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Enzyme 1
[top]
|
| Enzyme 1 ID |
5865 |
| Enzyme 1 Name |
Ubiquitin-conjugating enzyme E2 E3 |
| Enzyme 1 Synonyms |
- UbcH9
- Ubiquitin carrier protein E3
- Ubiquitin-conjugating enzyme E2-23 kDa
- Ubiquitin-protein ligase E3
|
| Enzyme 1 Gene Name |
UBE2E3 |
| Enzyme 1 Protein Sequence |
>Ubiquitin-conjugating enzyme E2 E3
MSSDRQRSDDESPSTSSGSSDADQRDPAAPEPEEQEERKPSATQQKKNTKLSSKTTAKLS
TSAKRIQKELAEITLDPPPNCSAGPKGDNIYEWRSTILGPPGSVYEGGVFFLDITFSSDY
PFKPPKVTFRTRIYHCNINSQGVICLDILKDNWSPALTISKVLLSICSLLTDCNPADPLV
GSIATQYLTNRAEHDRIARQWTKRYAT
|
| Enzyme 1 Number of Residues |
207 |
| Enzyme 1 Molecular Weight |
22912.3 |
| Enzyme 1 Theoretical pI |
7.25 |
| Enzyme 1 GO Classification |
| Function |
- acid-amino acid ligase activity
- catalytic activity
- ligase activity
- ligase activity, forming carbon-nitrogen bonds
- small conjugating protein ligase activity
|
| Process |
- biological regulation
- macromolecule metabolic process
- macromolecule modification
- metabolic process
- post-translational protein modification
- protein modification process
- regulation of biological process
- regulation of macromolecule metabolic process
- regulation of metabolic process
- regulation of protein metabolic process
|
| Component |
| — |
|
| Enzyme 1 General Function |
Involved in acid-amino acid ligase activity |
| Enzyme 1 Specific Function |
Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys- 11'- and 'Lys-48'-, as well as 'Lys-63'-linked polyubiquitination. Participates in the regulation of transepithelial sodium transport in renal cells. May be involved in cell growth arrest |
| Enzyme 1 Pathways |
- Ubiquitin mediated proteolysis (map04120
)
|
| Enzyme 1 Reactions |
- ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine [RN:R03876]
|
| Enzyme 1 Pfam Domain Function |
|
| Enzyme 1 Signals |
|
| Enzyme 1 Transmembrane Regions |
|
| Enzyme 1 Essentiality |
Not Available |
| Enzyme 1 GenBank ID Protein |
Not Available |
| Enzyme 1 UniProtKB/Swiss-Prot ID |
Q969T4  |
| Enzyme 1 UniProtKB/Swiss-Prot Entry Name |
UB2E3_HUMAN  |
| Enzyme 1 PDB ID |
1Y6L  |
| Enzyme 1 PDB File |
Show |
| Enzyme 1 3D Structure |
|
| Enzyme 1 Cellular Location |
Not Available |
| Enzyme 1 Gene Sequence |
>624 bp
ATGTCCAGTGATAGGCAAAGGTCCGATGATGAGAGCCCCAGCACCAGCAGTGGCAGTTCA
GATGCGGACCAGCGAGACCCAGCCGCTCCAGAGCCTGAAGAACAAGAGGAAAGAAAACCT
TCTGCCACCCAGCAGAAGAAAAACACCAAACTCTCTAGCAAAACCACTGCTAAGTTATCC
ACTAGTGCTAAAAGAATTCAGAAGGAGCTAGCTGAAATAACCCTTGATCCTCCTCCTAAT
TGCAGTGCTGGGCCTAAAGGAGATAACATTTATGAATGGAGATCAACTATACTTGGTCCA
CCGGGTTCTGTATATGAAGGTGGTGTGTTTTTTCTGGATATCACATTTTCATCAGATTAT
CCATTTAAGCCACCAAAGGTTACTTTCCGCACCAGAATCTATCACTGCAACATCAACAGT
CAGGGAGTCATCTGTCTGGACATCCTTAAAGACAACTGGAGTCCCGCTTTGACTATTTCA
AAGGTTTTGCTGTCTATTTGTTCCCTTTTGACAGACTGCAACCCTGCGGATCCTCTGGTT
GGAAGCATAGCCACTCAGTATTTGACCAACAGAGCAGAACACGACAGGATAGCCAGACAG
TGGACCAAGAGATACGCAACATAA
|
| Enzyme 1 GenBank Gene ID |
AB017644  |
| Enzyme 1 GeneCard ID |
UBE2E3  |
| Enzyme 1 GenAtlas ID |
UBE2E3  |
| Enzyme 1 HGNC ID |
HGNC:12479  |
| Enzyme 1 Chromosome Location |
2 |
| Enzyme 1 Locus |
2q32.1 |
| Enzyme 1 SNPs |
SNPJam Report  |
| Enzyme 1 General References |
- Ito K, Kato S, Matsuda Y, Kimura M, Okano Y: cDNA cloning, characterization, and chromosome mapping of UBE2E3 (alias UbcH9), encoding an N-terminally extended human ubiquitin-conjugating enzyme. Cytogenet Cell Genet. 1999;84(1-2):99-104. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK: Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434(7034):724-31. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Plafker SM, Plafker KS, Weissman AM, Macara IG: Ubiquitin charging of human class III ubiquitin-conjugating enzymes triggers their nuclear import. J Cell Biol. 2004 Nov 22;167(4):649-59. Epub 2004 Nov 15. [PubMed
]
- Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP: Large-scale characterization of HeLa cell nuclear phosphoproteins. Proc Natl Acad Sci U S A. 2004 Aug 17;101(33):12130-5. Epub 2004 Aug 9. [PubMed
]
- Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. Anal Chem. 2009 Jun 1;81(11):4493-501. [PubMed
]
- David Y, Ziv T, Admon A, Navon A: The E2 ubiquitin-conjugating enzymes direct polyubiquitination to preferred lysines. J Biol Chem. 2010 Mar 19;285(12):8595-604. Epub 2010 Jan 8. [PubMed
]
|
| Enzyme 1 Metabolite References |
Not Available |
|
Enzyme 2
[top]
|
| Enzyme 2 ID |
5991 |
| Enzyme 2 Name |
Corticosteroid 11-beta-dehydrogenase isozyme 2 |
| Enzyme 2 Synonyms |
- 11-beta-hydroxysteroid dehydrogenase type 2
- 11-DH2
- 11-beta-HSD2
- NAD-dependent 11-beta-hydroxysteroid dehydrogenase
|
| Enzyme 2 Gene Name |
HSD11B2 |
| Enzyme 2 Protein Sequence |
>Corticosteroid 11-beta-dehydrogenase isozyme 2
MERWPWPSGGAWLLVAARALLQLLRSDLRLGRPLLAALALLAALDWLCQRLLPPPAALAV
LAAAGWIALSRLARPQRLPVATRAVLITGCDSGFGKETAKKLDSMGFTVLATVLELNSPG
AIELRTCCSPRLRLLQMDLTKPGDISRVLEFTKAHTTSTGLWGLVNNAGHNEVVADAELS
PVATFRSCMEVNFFGALELTKGLLPLLRSSRGRIVTVGSPAGDMPYPCLGAYGTSKAAVA
LLMDTFSCELLPWGVKVSIIQPGCFKTESVRNVGQWEKRKQLLLANLPQELLQAYGKDYI
EHLHGQFLHSLRLAMSDLTPVVDAITDALLAARPRRRYYPGQGLGLMYFIHYYLPEGLRR
RFLQAFFISHCLPRALQPGQPGTTPPQDAAQDPNLSPGPSPAVAR
|
| Enzyme 2 Number of Residues |
405 |
| Enzyme 2 Molecular Weight |
44126.1 |
| Enzyme 2 Theoretical pI |
9.58 |
| Enzyme 2 GO Classification |
| Function |
- binding
- catalytic activity
- oxidoreductase activity
|
| Process |
- metabolic process
- oxidation reduction
|
| Component |
| — |
|
| Enzyme 2 General Function |
Involved in oxidoreductase activity |
| Enzyme 2 Specific Function |
Catalyzes the conversion of cortisol to the inactive metabolite cortisone. Modulates intracellular glucocorticoid levels, thus protecting the nonselective mineralocorticoid receptor from occupation by glucocorticoids |
| Enzyme 2 Pathways |
Not Available |
| Enzyme 2 Reactions |
Not Available |
| Enzyme 2 Pfam Domain Function |
|
| Enzyme 2 Signals |
|
| Enzyme 2 Transmembrane Regions |
|
| Enzyme 2 Essentiality |
Not Available |
| Enzyme 2 GenBank ID Protein |
119392083  |
| Enzyme 2 UniProtKB/Swiss-Prot ID |
P80365  |
| Enzyme 2 UniProtKB/Swiss-Prot Entry Name |
DHI2_HUMAN  |
| Enzyme 2 PDB ID |
Not Available |
| Enzyme 2 Cellular Location |
Not Available |
| Enzyme 2 Gene Sequence |
>1218 bp
ATGGAGCGCTGGCCTTGGCCGTCGGGCGGCGCCTGGCTGCTCGTGGCTGCCCGCGCGCTG
CTGCAGCTGCTGCGCTCAGACCTGCGTCTGGGCCGCCCGCTGCTGGCGGCGCTGGCGCTG
CTGGCCGCGCTCGACTGGCTGTGCCAGCGCCTGCTGCCCCCGCCGGCCGCACTCGCCGTG
CTGGCCGCCGCCGGCTGGATCGCGTTGTCCCGCCTGGCGCGCCCGCAGCGCCTGCCGGTG
GCCACTCGCGCGGTGCTCATCACCGGCTGTGACTCTGGTTTTGGCAAGGAGACGGCCAAG
AAACTGGACTCCATGGGCTTCACGGTGCTGGCCACCGTATTGGAGTTGAACAGCCCCGGT
GCCATCGAGCTGCGTACCTGCTGCTCCCCTCGCCTAAGGCTGCTGCAGATGGACCTGACC
AAACCAGGAGACATTAGCCGCGTGCTAGAGTTCACCAAGGCCCACACCACCAGCACCGGC
CTGTGGGGCCTCGTCAACAACGCAGGCCACAATGAAGTAGTTGCTGATGCGGAGCTGTCT
CCAGTGGCCACTTTCCGTAGCTGCATGGAGGTGAATTTCTTTGGCGCGCTCGAGCTGACC
AAGGGCCTCCTGCCCCTGCTGCGCAGCTCAAGGGGCCGCATCGTGACTGTGGGGAGCCCA
GCGGGGGACATGCCATATCCGTGCTTGGGGGCCTATGGAACCTCCAAAGCGGCCGTGGCG
CTACTCATGGACACATTCAGCTGTGAACTCCTTCCCTGGGGGGTCAAGGTCAGCATCATC
CAGCCTGGCTGCTTCAAGACAGAGTCAGTGAGAAACGTGGGTCAGTGGGAAAAGCGCAAG
CAATTGCTGCTGGCCAACCTGCCTCAAGAGCTGCTGCAGGCCTACGGCAAGGACTACATC
GAGCACTTGCATGGGCAGTTCCTGCACTCGCTACGCCTGGCCATGTCCGACCTCACCCCA
GTTGTAGATGCCATCACAGATGCGCTGCTGGCAGCTCGGCCCCGCCGCCGCTATTACCCC
GGCCAGGGCCTGGGGCTCATGTACTTCATCCACTACTACCTGCCTGAAGGCCTGCGGCGC
CGCTTCCTGCAGGCCTTCTTCATCAGTCACTGTCTGCCTCGAGCACTGCAGCCTGGCCAG
CCTGGCACTACCCCACCACAGGACGCAGCCCAGGACCCAAACCTGAGCCCCGGCCCTTCC
CCAGCAGTGGCTCGGTGA
|
| Enzyme 2 GenBank Gene ID |
NM_000196.3  |
| Enzyme 2 GeneCard ID |
HSD11B2  |
| Enzyme 2 GenAtlas ID |
HSD11B2  |
| Enzyme 2 HGNC ID |
HGNC:5209  |
| Enzyme 2 Chromosome Location |
1 |
| Enzyme 2 Locus |
16q22 |
| Enzyme 2 SNPs |
SNPJam Report  |
| Enzyme 2 General References |
- Albiston AL, Obeyesekere VR, Smith RE, Krozowski ZS: Cloning and tissue distribution of the human 11 beta-hydroxysteroid dehydrogenase type 2 enzyme. Mol Cell Endocrinol. 1994 Nov;105(2):R11-7. [PubMed
]
- Agarwal AK, Rogerson FM, Mune T, White PC: Gene structure and chromosomal localization of the human HSD11K gene encoding the kidney (type 2) isozyme of 11 beta-hydroxysteroid dehydrogenase. Genomics. 1995 Sep 1;29(1):195-9. [PubMed
]
- Brown RW, Chapman KE, Kotelevtsev Y, Yau JL, Lindsay RS, Brett L, Leckie C, Murad P, Lyons V, Mullins JJ, Edwards CR, Seckl JR: Cloning and production of antisera to human placental 11 beta-hydroxysteroid dehydrogenase type 2. Biochem J. 1996 Feb 1;313 ( Pt 3):1007-17. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Brown RW, Chapman KE, Murad P, Edwards CR, Seckl JR: Purification of 11 beta-hydroxysteroid dehydrogenase type 2 from human placenta utilizing a novel affinity labelling technique. Biochem J. 1996 Feb 1;313 ( Pt 3):997-1005. [PubMed
]
- Wilson RC, Harbison MD, Krozowski ZS, Funder JW, Shackleton CH, Hanauske-Abel HM, Wei JQ, Hertecant J, Moran A, Neiberger RE, et al.: Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess. J Clin Endocrinol Metab. 1995 Nov;80(11):3145-50. [PubMed
]
- Stewart PM, Wallace AM, Valentino R, Burt D, Shackleton CH, Edwards CR: Mineralocorticoid activity of liquorice: 11-beta-hydroxysteroid dehydrogenase deficiency comes of age. Lancet. 1987 Oct 10;2(8563):821-4. [PubMed
]
- Odermatt A, Arnold P, Frey FJ: The intracellular localization of the mineralocorticoid receptor is regulated by 11beta-hydroxysteroid dehydrogenase type 2. J Biol Chem. 2001 Jul 27;276(30):28484-92. Epub 2001 May 11. [PubMed
]
- Wilson RC, Krozowski ZS, Li K, Obeyesekere VR, Razzaghy-Azar M, Harbison MD, Wei JQ, Shackleton CH, Funder JW, New MI: A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess. J Clin Endocrinol Metab. 1995 Jul;80(7):2263-6. [PubMed
]
- Mune T, Rogerson FM, Nikkila H, Agarwal AK, White PC: Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase. Nat Genet. 1995 Aug;10(4):394-9. [PubMed
]
- Kitanaka S, Katsumata N, Tanae A, Hibi I, Takeyama K, Fuse H, Kato S, Tanaka T: A new compound heterozygous mutation in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. J Clin Endocrinol Metab. 1997 Dec;82(12):4054-8. [PubMed
]
- Li A, Tedde R, Krozowski ZS, Pala A, Li KX, Shackleton CH, Mantero F, Palermo M, Stewart PM: Molecular basis for hypertension in the "type II variant" of apparent mineralocorticoid excess. Am J Hum Genet. 1998 Aug;63(2):370-9. [PubMed
]
- Dave-Sharma S, Wilson RC, Harbison MD, Newfield R, Azar MR, Krozowski ZS, Funder JW, Shackleton CH, Bradlow HL, Wei JQ, Hertecant J, Moran A, Neiberger RE, Balfe JW, Fattah A, Daneman D, Akkurt HI, De Santis C, New MI: Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess. J Clin Endocrinol Metab. 1998 Jul;83(7):2244-54. [PubMed
]
- Rogoff D, Smolenicka Z, Bergada I, Vallejo G, Barontini M, Heinrich JJ, Ferrari P: The codon 213 of the 11beta-hydroxysteroid dehydrogenase type 2 gene is a hot spot for mutations in apparent mineralocorticoid excess. J Clin Endocrinol Metab. 1998 Dec;83(12):4391-3. [PubMed
]
- Wilson RC, Dave-Sharma S, Wei JQ, Obeyesekere VR, Li K, Ferrari P, Krozowski ZS, Shackleton CH, Bradlow L, Wiens T, New MI: A genetic defect resulting in mild low-renin hypertension. Proc Natl Acad Sci U S A. 1998 Aug 18;95(17):10200-5. [PubMed
]
- Morineau G, Marc JM, Boudi A, Galons H, Gourmelen M, Corvol P, Pascoe L, Fiet J: Genetic, biochemical, and clinical studies of patients with A328V or R213C mutations in 11betaHSD2 causing apparent mineralocorticoid excess. Hypertension. 1999 Sep;34(3):435-41. [PubMed
]
- Nunez BS, Rogerson FM, Mune T, Igarashi Y, Nakagawa Y, Phillipov G, Moudgil A, Travis LB, Palermo M, Shackleton C, White PC: Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess. Hypertension. 1999 Oct;34(4 Pt 1):638-42. [PubMed
]
- Odermatt A, Dick B, Arnold P, Zaehner T, Plueschke V, Deregibus MN, Repetto H, Frey BM, Frey FJ, Ferrari P: A mutation in the cofactor-binding domain of 11beta-hydroxysteroid dehydrogenase type 2 associated with mineralocorticoid hypertension. J Clin Endocrinol Metab. 2001 Mar;86(3):1247-52. [PubMed
]
|
| Enzyme 2 Metabolite References |
Not Available |
|
Enzyme 3
[top]
|
| Enzyme 3 ID |
6420 |
| Enzyme 3 Name |
Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 |
| Enzyme 3 Synonyms |
- Brain cyclic nucleotide-gated channel 1
- BCNG-1
|
| Enzyme 3 Gene Name |
HCN1 |
| Enzyme 3 Protein Sequence |
>Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1
MEGGGKPNSSSNSRDDGNSVFPAKASATGAGPAAAEKRLGTPPGGGGAGAKEHGNSVCFK
VDGGGGGGGGGGGGEEPAGGFEDAEGPRRQYGFMQRQFTSMLQPGVNKFSLRMFGSQKAV
EKEQERVKTAGFWIIHPYSDFRFYWDLIMLIMMVGNLVIIPVGITFFTEQTTTPWIIFNV
ASDTVFLLDLIMNFRTGTVNEDSSEIILDPKVIKMNYLKSWFVVDFISSIPVDYIFLIVE
KGMDSEVYKTARALRIVRFTKILSLLRLLRLSRLIRYIHQWEEIFHMTYDLASAVVRIFN
LIGMMLLLCHWDGCLQFLVPLLQDFPPDCWVSLNEMVNDSWGKQYSYALFKAMSHMLCIG
YGAQAPVSMSDLWITMLSMIVGATCYAMFVGHATALIQSLDSSRRQYQEKYKQVEQYMSF
HKLPADMRQKIHDYYEHRYQGKIFDEENILNELNDPLREEIVNFNCRKLVATMPLFANAD
PNFVTAMLSKLRFEVFQPGDYIIREGAVGKKMYFIQHGVAGVITKSSKEMKLTDGSYFGE
ICLLTKGRRTASVRADTYCRLYSLSVDNFNEVLEEYPMMRRAFETVAIDRLDRIGKKNSI
LLQKFQKDLNTGVFNNQENEILKQIVKHDREMVQAIAPINYPQMTTLNSTSSTTTPTSRM
RTQSPPVYTATSLSHSNLHSPSPSTQTPQPSAILSPCSYTTAVCSPPVQSPLAARTFHYA
SPTASQLSLMQQQPQQQVQQSQPPQTQPQQPSPQPQTPGSSTPKNEVHKSTQALHNTNLT
REVRPLSASQPSLPHEVSTLISRPHPTVGESLASIPQPVTAVPGTGLQAGGRSTVPQRVT
LFRQMSSGAIPPNRGVPPAPPPPAAALPRESSSVLNTDPDAEKPRFASNL
|
| Enzyme 3 Number of Residues |
890 |
| Enzyme 3 Molecular Weight |
98795.3 |
| Enzyme 3 Theoretical pI |
8.54 |
| Enzyme 3 GO Classification |
| Function |
- cation channel activity
- ion channel activity
- ion transmembrane transporter activity
- potassium channel activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
- voltage-gated potassium channel activity
|
| Process |
- cation transport
- establishment of localization
- ion transport
- monovalent inorganic cation transport
- potassium ion transport
- transmembrane transport
- transport
|
| Component |
|
|
| Enzyme 3 General Function |
Involved in ion channel activity |
| Enzyme 3 Specific Function |
Hyperpolarization-activated ion channel exhibiting weak selectivity for potassium over sodium ions. Contributes to the native pacemaker currents in heart (If) and in neurons (Ih). Activated by cAMP, and at 10-100 times higher concentrations, also by cGMP. May mediate responses to sour stimuli |
| Enzyme 3 Pathways |
Not Available |
| Enzyme 3 Reactions |
Not Available |
| Enzyme 3 Pfam Domain Function |
|
| Enzyme 3 Signals |
|
| Enzyme 3 Transmembrane Regions |
- 147-167
174-194
220-240
249-269
301-321
372-392
|
| Enzyme 3 Essentiality |
Not Available |
| Enzyme 3 GenBank ID Protein |
116325989  |
| Enzyme 3 UniProtKB/Swiss-Prot ID |
O60741  |
| Enzyme 3 UniProtKB/Swiss-Prot Entry Name |
HCN1_HUMAN  |
| Enzyme 3 PDB ID |
1Q3E  |
| Enzyme 3 PDB File |
Show |
| Enzyme 3 3D Structure |
|
| Enzyme 3 Cellular Location |
Not Available |
| Enzyme 3 Gene Sequence |
>2673 bp
ATGGAAGGAGGCGGCAAGCCCAACTCTTCGTCTAACAGCCGGGACGATGGCAACAGCGTC
TTCCCCGCCAAGGCGTCCGCGACGGGCGCGGGGCCGGCCGCGGCCGAGAAGCGCCTGGGC
ACCCCGCCGGGGGGCGGCGGGGCCGGCGCGAAGGAGCACGGCAACTCCGTGTGCTTCAAG
GTGGACGGCGGTGGCGGCGGTGGCGGCGGCGGCGGCGGCGGCGAGGAGCCGGCGGGGGGC
TTCGAAGACGCCGAGGGGCCCCGGCGGCAGTACGGCTTCATGCAGAGGCAGTTCACCTCC
ATGCTGCAGCCCGGGGTCAACAAATTCTCCCTCCGCATGTTTGGGAGCCAGAAGGCGGTG
GAAAAGGAGCAGGAAAGGGTTAAAACTGCAGGCTTCTGGATTATCCACCCTTACAGTGAT
TTCAGGTTTTACTGGGATTTAATAATGCTTATAATGATGGTTGGAAATCTAGTCATCATA
CCAGTTGGAATCACATTCTTTACAGAGCAAACAACAACACCATGGATTATTTTCAATGTG
GCATCAGATACAGTTTTCCTATTGGACCTGATCATGAATTTTAGGACTGGGACTGTCAAT
GAAGACAGTTCTGAAATCATCCTGGACCCCAAAGTGATCAAGATGAATTATTTAAAAAGC
TGGTTTGTGGTTGACTTCATCTCATCCATCCCAGTGGATTATATCTTTCTTATTGTAGAA
AAAGGAATGGATTCTGAAGTTTACAAGACAGCCAGGGCACTTCGCATTGTGAGGTTTACA
AAAATTCTCAGTCTCTTGCGTTTATTACGACTTTCAAGGTTAATTAGATACATACATCAA
TGGGAAGAGATATTCCACATGACATATGATCTCGCCAGTGCAGTGGTGAGAATTTTTAAT
CTCATCGGCATGATGCTGCTCCTGTGCCACTGGGATGGTTGTCTTCAGTTCTTAGTACCA
CTACTGCAGGACTTCCCACCAGATTGCTGGGTGTCTTTAAATGAAATGGTTAATGATTCT
TGGGGAAAGCAGTATTCATACGCACTCTTCAAAGCTATGAGTCACATGCTGTGCATTGGG
TATGGAGCCCAAGCCCCAGTCAGCATGTCTGACCTCTGGATTACCATGCTGAGCATGATC
GTCGGGGCCACCTGCTATGCCATGTTTGTCGGCCATGCCACCGCTTTAATCCAGTCTCTG
GATTCTTCGAGGCGGCAGTATCAAGAGAAGTATAAGCAAGTGGAACAATACATGTCATTC
CATAAGTTACCAGCTGATATGCGTCAGAAGATACATGATTACTATGAACACAGATACCAA
GGCAAAATCTTTGATGAGGAAAATATTCTCAATGAACTCAATGATCCTCTGAGAGAGGAG
ATAGTCAACTTCAACTGTCGGAAACTGGTGGCTACAATGCCTTTATTTGCTAATGCGGAT
CCTAATTTTGTGACTGCCATGCTGAGCAAGTTGAGATTTGAGGTGTTTCAACCTGGAGAT
TATATCATACGAGAAGGAGCCGTGGGTAAAAAAATGTATTTCATTCAACACGGTGTTGCT
GGTGTCATTACAAAATCCAGTAAAGAAATGAAGCTGACAGATGGCTCTTACTTTGGAGAG
ATTTGCCTGCTGACCAAAGGACGTCGTACTGCCAGTGTTCGAGCTGATACATATTGTCGT
CTTTACTCACTTTCCGTGGACAATTTCAACGAGGTCCTGGAGGAATATCCAATGATGAGG
AGAGCCTTTGAGACAGTTGCCATTGACCGACTAGATCGAATAGGAAAGAAAAATTCAATT
CTTCTGCAAAAGTTCCAGAAGGATCTGAACACTGGTGTTTTCAACAATCAGGAGAACGAA
ATCCTCAAGCAGATTGTGAAACATGACAGGGAGATGGTGCAGGCAATCGCTCCCATCAAT
TATCCTCAAATGACAACCCTGAATTCCACATCGTCTACTACGACCCCGACCTCCCGCATG
AGGACACAATCTCCACCGGTGTACACAGCGACCAGCCTGTCTCACAGCAACCTGCACTCC
CCCAGTCCCAGCACACAGACCCCCCAGCCATCAGCCATCCTGTCACCCTGCTCCTACACC
ACCGCGGTCTGCAGCCCTCCTGTACAGAGCCCTCTGGCCGCTCGAACTTTCCACTATGCC
TCCCCCACCGCCTCCCAGCTGTCACTCATGCAACAGCAGCCGCAGCAGCAGGTACAGCAG
TCCCAGCCGCCGCAGACTCAGCCACAGCAGCCGTCCCCGCAGCCACAGACACCTGGCAGC
TCCACGCCGAAAAATGAAGTGCACAAGAGCACGCAGGCGCTTCACAACACCAACCTGACC
CGGGAAGTCAGGCCACTCTCCGCCTCGCAGCCCTCGCTGCCCCATGAGGTGTCCACTCTG
ATTTCCAGACCTCATCCCACTGTGGGCGAGTCCCTGGCCTCCATCCCTCAACCCGTGACG
GCGGTCCCCGGAACGGGCCTTCAGGCAGGGGGCAGGAGCACTGTCCCGCAGCGCGTCACC
CTCTTCCGACAGATGTCGTCGGGAGCCATCCCCCCGAACCGAGGAGTCCCTCCAGCACCC
CCTCCACCAGCAGCTGCTCTTCCAAGAGAATCTTCCTCAGTCTTAAACACAGACCCAGAC
GCAGAAAAGCCACGATTTGCTTCAAATTTATGA
|
| Enzyme 3 GenBank Gene ID |
NM_021072.2  |
| Enzyme 3 GeneCard ID |
HCN1  |
| Enzyme 3 GenAtlas ID |
HCN1  |
| Enzyme 3 HGNC ID |
HGNC:4845  |
| Enzyme 3 Chromosome Location |
5 |
| Enzyme 3 Locus |
5p12 |
| Enzyme 3 SNPs |
SNPJam Report  |
| Enzyme 3 General References |
- Schmutz J, Martin J, Terry A, Couronne O, Grimwood J, Lowry S, Gordon LA, Scott D, Xie G, Huang W, Hellsten U, Tran-Gyamfi M, She X, Prabhakar S, Aerts A, Altherr M, Bajorek E, Black S, Branscomb E, Caoile C, Challacombe JF, Chan YM, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Glavina T, Gomez M, Gonzales E, Goodstein D, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Lopez F, Lou Y, Martinez D, Medina C, Morgan J, Nandkeshwar R, Noonan JP, Pitluck S, Pollard M, Predki P, Priest J, Ramirez L, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wheeler J, Wu K, Yang J, Dickson M, Cheng JF, Eichler EE, Olsen A, Pennacchio LA, Rokhsar DS, Richardson P, Lucas SM, Myers RM, Rubin EM: The DNA sequence and comparative analysis of human chromosome 5. Nature. 2004 Sep 16;431(7006):268-74. [PubMed
]
- Santoro B, Liu DT, Yao H, Bartsch D, Kandel ER, Siegelbaum SA, Tibbs GR: Identification of a gene encoding a hyperpolarization-activated pacemaker channel of brain. Cell. 1998 May 29;93(5):717-29. [PubMed
]
|
| Enzyme 3 Metabolite References |
Not Available |
|
Enzyme 4
[top]
|
| Enzyme 4 ID |
6495 |
| Enzyme 4 Name |
Sodium/potassium-transporting ATPase subunit beta-3 |
| Enzyme 4 Synonyms |
- Sodium/potassium-dependent ATPase subunit beta-3
- ATPB-3
- CD298 antigen
|
| Enzyme 4 Gene Name |
ATP1B3 |
| Enzyme 4 Protein Sequence |
>Sodium/potassium-transporting ATPase subunit beta-3
MTKNEKKSLNQSLAEWKLFIYNPTTGEFLGRTAKSWGLILLFYLVFYGFLAALFSFTMWV
MLQTLNDEVPKYRDQIPSPGLMVFPKPVTALEYTFSRSDPTSYAGYIEDLKKFLKPYTLE
EQKNLTVCPDGALFEQKGPVYVACQFPISLLQACSGMNDPDFGYSQGNPCILVKMNRIIG
LKPEGVPRIDCVSKNEDIPNVAVYPHNGMIDLKYFPYYGKKLHVGYLQPLVAVQVSFAPN
NTGKEVTVECKIDGSANLKSQDDRDKFLGRVMFKITARA
|
| Enzyme 4 Number of Residues |
279 |
| Enzyme 4 Molecular Weight |
31512.3 |
| Enzyme 4 Theoretical pI |
8.52 |
| Enzyme 4 GO Classification |
| Function |
- cation transmembrane transporter activity
- inorganic cation transmembrane transporter activity
- ion transmembrane transporter activity
- monovalent inorganic cation transmembrane transporter activity
- potassium ion transmembrane transporter activity
- potassium-transporting ATPase activity
- sodium:potassium-exchanging ATPase activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- ATP biosynthetic process
- cation transport
- cellular nitrogen compound metabolic process
- establishment of localization
- ion transport
- metabolic process
- monovalent inorganic cation transport
- nitrogen compound metabolic process
- nucleobase, nucleoside and nucleotide metabolic process
- nucleobase, nucleoside, nucleotide and nucleic acid metabolic process
- nucleoside phosphate metabolic process
- nucleotide metabolic process
- potassium ion transport
- purine nucleoside triphosphate biosynthetic process
- purine nucleotide biosynthetic process
- purine nucleotide metabolic process
- purine ribonucleoside triphosphate biosynthetic process
- sodium ion transport
- transport
|
| Component |
|
|
| Enzyme 4 General Function |
Involved in sodium:potassium-exchanging ATPase activity |
| Enzyme 4 Specific Function |
This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The exact function of the beta-3 subunit is not known |
| Enzyme 4 Pathways |
Not Available |
| Enzyme 4 Reactions |
Not Available |
| Enzyme 4 Pfam Domain Function |
|
| Enzyme 4 Signals |
|
| Enzyme 4 Transmembrane Regions |
|
| Enzyme 4 Essentiality |
Not Available |
| Enzyme 4 GenBank ID Protein |
Not Available |
| Enzyme 4 UniProtKB/Swiss-Prot ID |
P54709  |
| Enzyme 4 UniProtKB/Swiss-Prot Entry Name |
AT1B3_HUMAN  |
| Enzyme 4 PDB ID |
Not Available |
| Enzyme 4 Cellular Location |
Not Available |
| Enzyme 4 Gene Sequence |
>840 bp
ATGACGAAGAACGAGAAGAAGTCCCTCAACCAGAGCCTGGCCGAGTGGAAGCTCTTCATC
TACAACCCGACCACCGGAGAATTCCTGGGGCGCACCGCCAAGAGCTGGGGTTTGATCTTG
CTCTTCTACCTAGTTTTTTATGGGTTCCTGGCTGCACTCTTCTCATTCACGATGTGGGTT
ATGCTTCAGACTCTCAACGATGAGGTTCCAAAATACCGTGACCAGATTCCTAGCCCAGGA
CTCATGGTTTTTCCAAAACCAGTGACCGCATTGGAATATACATTCAGTAGGTCTGATCCA
ACTTCGTATGCAGGGTACATTGAAGACCTTAAGAAGTTTCTAAAACCATATACTTTAGAA
GAACAGAAGAACCTCACAGTCTGTCCTGATGGAGCACTTTTTGAACAGAAGGGTCCAGTT
TATGTTGCATGTCAGTTTCCTATTTCATTACTTCAAGCATGCAGTGGTATGAATGATCCT
GATTTTGGCTATTCTCAAGGAAACCCTTGTATTCTTGTGAAAATGAACAGAATAATTGGA
TTAAAGCCTGAAGGAGTGCCAAGGATAGATTGTGTTTCAAAGAATGAAGATATACCAAAT
GTAGCAGTTTATCCTCATAATGGAATGATAGACTTAAAATATTTCCCATATTATGGGAAA
AAACTGCATGTTGGGTATCTACAGCCATTGGTTGCTGTTCAGGTCAGCTTTGCTCCTAAC
AACACTGGGAAAGAAGTAACAGTTGAGTGCAAGATTGATGGATCAGCCAACCTAAAAAGT
CAGGATGATCGTGACAAGTTTTTGGGACGAGTTATGTTCAAAATCACAGCACGTGCATAG
|
| Enzyme 4 GenBank Gene ID |
U51478  |
| Enzyme 4 GeneCard ID |
ATP1B3  |
| Enzyme 4 GenAtlas ID |
ATP1B3  |
| Enzyme 4 HGNC ID |
HGNC:806  |
| Enzyme 4 Chromosome Location |
3 |
| Enzyme 4 Locus |
3q23 |
| Enzyme 4 SNPs |
SNPJam Report  |
| Enzyme 4 General References |
- Malik N, Canfield VA, Beckers MC, Gros P, Levenson R: Identification of the mammalian Na,K-ATPase 3 subunit. J Biol Chem. 1996 Sep 13;271(37):22754-8. [PubMed
]
- Malik N, Canfield V, Sanchez-Watts G, Watts AG, Scherer S, Beatty BG, Gros P, Levenson R: Structural organization and chromosomal localization of the human Na,K-ATPase beta 3 subunit gene and pseudogene. Mamm Genome. 1998 Feb;9(2):136-43. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Zhang H, Li XJ, Martin DB, Aebersold R: Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry. Nat Biotechnol. 2003 Jun;21(6):660-6. Epub 2003 May 18. [PubMed
]
- Chi A, Valencia JC, Hu ZZ, Watabe H, Yamaguchi H, Mangini NJ, Huang H, Canfield VA, Cheng KC, Yang F, Abe R, Yamagishi S, Shabanowitz J, Hearing VJ, Wu C, Appella E, Hunt DF: Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. J Proteome Res. 2006 Nov;5(11):3135-44. [PubMed
]
|
| Enzyme 4 Metabolite References |
Not Available |
|
Enzyme 5
[top]
|
| Enzyme 5 ID |
6520 |
| Enzyme 5 Name |
Sodium/potassium-transporting ATPase subunit beta-2 |
| Enzyme 5 Synonyms |
- Sodium/potassium-dependent ATPase subunit beta-2
|
| Enzyme 5 Gene Name |
ATP1B2 |
| Enzyme 5 Protein Sequence |
>Sodium/potassium-transporting ATPase subunit beta-2
MVIQKEKKSCGQVVEEWKEFVWNPRTHQFMGRTGTSWAFILLFYLVFYGFLTAMFTLTMW
VMLQTVSDHTPKYQDRLATPGLMIRPKTENLDVIVNVSDTESWDQHVQKLNKFLEPYNDS
IQAQKNDVCRPGRYYEQPDNGVLNYPKRACQFNRTQLGNCSGIGDSTHYGYSTGQPCVFI
KMNRVINFYAGANQSMNVTCAGKRDEDAENLGNFVMFPANGNIDLMYFPYYGKKFHVNYT
QPLVAVKFLNVTPNVEVNVECRINAANIATDDERDKFAGRVAFKLRINKT
|
| Enzyme 5 Number of Residues |
290 |
| Enzyme 5 Molecular Weight |
33366.9 |
| Enzyme 5 Theoretical pI |
8.44 |
| Enzyme 5 GO Classification |
| Function |
- cation transmembrane transporter activity
- inorganic cation transmembrane transporter activity
- ion transmembrane transporter activity
- monovalent inorganic cation transmembrane transporter activity
- potassium ion transmembrane transporter activity
- potassium-transporting ATPase activity
- sodium:potassium-exchanging ATPase activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- ATP biosynthetic process
- cation transport
- cellular nitrogen compound metabolic process
- establishment of localization
- ion transport
- metabolic process
- monovalent inorganic cation transport
- nitrogen compound metabolic process
- nucleobase, nucleoside and nucleotide metabolic process
- nucleobase, nucleoside, nucleotide and nucleic acid metabolic process
- nucleoside phosphate metabolic process
- nucleotide metabolic process
- potassium ion transport
- purine nucleoside triphosphate biosynthetic process
- purine nucleotide biosynthetic process
- purine nucleotide metabolic process
- purine ribonucleoside triphosphate biosynthetic process
- sodium ion transport
- transport
|
| Component |
|
|
| Enzyme 5 General Function |
Involved in sodium:potassium-exchanging ATPase activity |
| Enzyme 5 Specific Function |
This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The exact function of the beta-2 subunit is not known |
| Enzyme 5 Pathways |
Not Available |
| Enzyme 5 Reactions |
Not Available |
| Enzyme 5 Pfam Domain Function |
|
| Enzyme 5 Signals |
|
| Enzyme 5 Transmembrane Regions |
|
| Enzyme 5 Essentiality |
Not Available |
| Enzyme 5 GenBank ID Protein |
179245  |
| Enzyme 5 UniProtKB/Swiss-Prot ID |
P14415  |
| Enzyme 5 UniProtKB/Swiss-Prot Entry Name |
AT1B2_HUMAN  |
| Enzyme 5 PDB ID |
Not Available |
| Enzyme 5 Cellular Location |
Not Available |
| Enzyme 5 Gene Sequence |
>873 bp
ATGGTCATCCAGAAAGAGAAGAAGAGCTGCGGGCAGGTGGTTGAGGAGTGGAAGGAGTTC
GTGTGGAACCCGAGGACGCACCAGTTTATGGGCCGCACCGGGACCAGCTGGGCCTTTATC
CTCCTCTTCTACCTCGTTTTTTATGGGTTCCCCACCGCCATGTTCACCCTCACCATGTGG
GTGATGCTGCAGACTGTCTCCGACCATACCCCCAAGTACCAGGACCGACTGGCCACACCG
GGCTTGATGATTCGCCCCAAGACTGAGAACCTTGATGTCATTGTCAATGTCAGTGACACT
GAAAGCTGGGACCAGCATGTTCAGAAGCTCAACAAGTTCTTGGAGCCTTACAACGACTCT
ATGCAAGCCCAAAAGAATGATGTCTGCCGCCCTGGGCGCTATTACGAACAGCCAGATAAT
GGAGTCCTCAACTACCCCAAACTGGCCTGCCAATTCAACCGGACCCAGCTGGGCAACTGC
TCCGGCATTGGGGACTCCACCCACTATGGTTACAGCACTGGGCAGCCCTGTGTCTTCATC
AAGATGAACCGGGTCATCAACTTCTATGCAGGAGCAAACCAGAGCATGAATGTTACCTGT
GCTGGGAAGCGAGATGAAGATGCTGAGAATCTCGGCAACTTCGTCATGTTCCCCGCCAAC
GGCAACATCGACCTCATGTACTTCCCCTACTATGGCAAAAAGTTCCACGTGAACTACACA
CAGCCCCTGGTGGCTGTGAAGTTCCTGAATGTGACCCCCAACGTGGAGGTGAATGTAGAA
TGTCGCATCAACGCCGCCAACATCGCCACAGACGATGAGCGAGACAAGTTCGCCGGCCGC
GTGGCCTTCAAACTCCGCATCAACAAAACCTGA
|
| Enzyme 5 GenBank Gene ID |
M81181  |
| Enzyme 5 GeneCard ID |
ATP1B2  |
| Enzyme 5 GenAtlas ID |
ATP1B2  |
| Enzyme 5 HGNC ID |
HGNC:805  |
| Enzyme 5 Chromosome Location |
1 |
| Enzyme 5 Locus |
17p13.1 |
| Enzyme 5 SNPs |
SNPJam Report  |
| Enzyme 5 General References |
- Martin-Vasallo P, Dackowski W, Emanuel JR, Levenson R: Identification of a putative isoform of the Na,K-ATPase beta subunit. Primary structure and tissue-specific expression. J Biol Chem. 1989 Mar 15;264(8):4613-8. [PubMed
]
- Hernando N, Martin-Vasallo P, Ghosh S, Ghosh PK, Swaroop A, Coca-Prados M: Nucleotide sequence of a cDNA for the beta 2 subunit isoform of Na+,K(+)-ATPase from human retina. Biochim Biophys Acta. 1994 Jan 3;1189(1):109-11. [PubMed
]
- Ruiz A, Bhat SP, Bok D: Expression and synthesis of the Na,K-ATPase beta 2 subunit in human retinal pigment epithelium. Gene. 1996 Oct 17;176(1-2):237-42. [PubMed
]
- Avila J, Alvarez de la Rosa D, Gonzalez-Martinez LM, Lecuona E, Martin-Vasallo P: Structure and expression of the human Na,K-ATPase beta 2-subunit gene. Gene. 1998 Feb 27;208(2):221-7. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. J Proteome Res. 2009 Feb;8(2):651-61. [PubMed
]
|
| Enzyme 5 Metabolite References |
Not Available |
|
Enzyme 6
[top]
|
| Enzyme 6 ID |
6524 |
| Enzyme 6 Name |
Sodium/potassium-transporting ATPase subunit beta-1 |
| Enzyme 6 Synonyms |
- Sodium/potassium-dependent ATPase subunit beta-1
|
| Enzyme 6 Gene Name |
ATP1B1 |
| Enzyme 6 Protein Sequence |
>Sodium/potassium-transporting ATPase subunit beta-1
MARGKAKEEGSWKKFIWNSEKKEFLGRTGGSWFKILLFYVIFYGCLAGIFIGTIQVMLLT
ISEFKPTYQDRVAPPGLTQIPQIQKTEISFRPNDPKSYEAYVLNIVRFLEKYKDSAQRDD
MIFEDCGDVPSEPKERGDFNHERGERKVCRFKLEWLGNCSGLNDETYGYKEGKPCIIIKL
NRVLGFKPKPPKNESLETYPVMKYNPNVLPVQCTGKRDEDKDKVGNVEYFGLGNSPGFPL
QYYPYYGKLLQPKYLQPLLAVQFTNLTMDTEIRIECKAYGENIGYSEKDRFQGRFDVKIE
VKS
|
| Enzyme 6 Number of Residues |
303 |
| Enzyme 6 Molecular Weight |
35061.1 |
| Enzyme 6 Theoretical pI |
8.73 |
| Enzyme 6 GO Classification |
| Function |
- cation transmembrane transporter activity
- inorganic cation transmembrane transporter activity
- ion transmembrane transporter activity
- monovalent inorganic cation transmembrane transporter activity
- potassium ion transmembrane transporter activity
- potassium-transporting ATPase activity
- sodium:potassium-exchanging ATPase activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- ATP biosynthetic process
- cation transport
- cellular nitrogen compound metabolic process
- establishment of localization
- ion transport
- metabolic process
- monovalent inorganic cation transport
- nitrogen compound metabolic process
- nucleobase, nucleoside and nucleotide metabolic process
- nucleobase, nucleoside, nucleotide and nucleic acid metabolic process
- nucleoside phosphate metabolic process
- nucleotide metabolic process
- potassium ion transport
- purine nucleoside triphosphate biosynthetic process
- purine nucleotide biosynthetic process
- purine nucleotide metabolic process
- purine ribonucleoside triphosphate biosynthetic process
- sodium ion transport
- transport
|
| Component |
|
|
| Enzyme 6 General Function |
Involved in sodium:potassium-exchanging ATPase activity |
| Enzyme 6 Specific Function |
This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane |
| Enzyme 6 Pathways |
Not Available |
| Enzyme 6 Reactions |
Not Available |
| Enzyme 6 Pfam Domain Function |
|
| Enzyme 6 Signals |
|
| Enzyme 6 Transmembrane Regions |
|
| Enzyme 6 Essentiality |
Not Available |
| Enzyme 6 GenBank ID Protein |
28933  |
| Enzyme 6 UniProtKB/Swiss-Prot ID |
P05026  |
| Enzyme 6 UniProtKB/Swiss-Prot Entry Name |
AT1B1_HUMAN  |
| Enzyme 6 PDB ID |
Not Available |
| Enzyme 6 Cellular Location |
Not Available |
| Enzyme 6 Gene Sequence |
>912 bp
ATGGCCCGCGGGAAAGCCAAGGAGGAGGGCAGCTGGAAGAAATTCATCTGGAACTCAGAG
AAGAAGGAGTTTCTGGGCAGGACCGGTGGCAGTTGGTTTAAGATCCTTCTATTCTACGTA
ATATTTTATGGCTGCCTGGCTGGCATCTTCATCGGAACCATCCAAGTGATGCTGCTCACC
ATCAGTGAATTTAAGCCCACATATCAGGACCGAGTGGCCCCGCCAGGATTAACACAGATT
CCTCAGATCCAGAAGACTGAAATTTCCTTTCGTCCTAATGATCCCAAGAGCTATGAGGCA
TATGTACTGAACATAGTTAGGTTCCTGGAAAAGTACAAAGATTCAGCCCAGAGGGATGAC
ATGATTTTTGAAGATTGTGGCGATGTGCCCAGTGAACCGAAAGAACGAGGAGACTTTAAT
CATGAACGAGGAGAGCGAAAGGTCTGCAGATTCAAGCTTGAATGGCTGGGAAATTGCTCT
GGATTAAATGATGAAACTTATGGCTACAAAGAGGGCAAACCGTGCATTATTATAAAGCTC
AACCGAGTTCTAGGCTTCAAACCTAAGCCTCCCAAGAATGAGTCCTTGGAGACTTACCCA
GTGATGAAGTATAACCCAAATGTCCTTCCCGTTCAGTGCACTGGCAAGCGAGATGAAGAT
AAGGATAAAGTTGGAAATGTGGAGTATTTTGGACTGGGCAACTCCCCTGGTTTTCCTCTG
CAGTATTATCCGTACTATGGCAAACTCCTGCAGCCCAAATACCTGCAGCCCCTGCTGGCC
GTACAGTTCACCAATCTTACCATGGACACTGAAATTCGCATAGAGTGTAAGGCGTACGGT
GAGAACATTGGGTACAGTGAGAAAGACCGTTTTCAGGGACGTTTTGATGTAAAAATTGAA
GTTAAGAGCTGA
|
| Enzyme 6 GenBank Gene ID |
X03747  |
| Enzyme 6 GeneCard ID |
ATP1B1  |
| Enzyme 6 GenAtlas ID |
ATP1B1  |
| Enzyme 6 HGNC ID |
HGNC:804  |
| Enzyme 6 Chromosome Location |
1 |
| Enzyme 6 Locus |
1q24 |
| Enzyme 6 SNPs |
SNPJam Report  |
| Enzyme 6 General References |
- Kawakami K, Nojima H, Ohta T, Nagano K: Molecular cloning and sequence analysis of human Na,K-ATPase beta-subunit. Nucleic Acids Res. 1986 Apr 11;14(7):2833-44. [PubMed
]
- Lane LK, Shull MM, Whitmer KR, Lingrel JB: Characterization of two genes for the human Na,K-ATPase beta subunit. Genomics. 1989 Oct;5(3):445-53. [PubMed
]
- Ruiz A, Bhat SP, Bok D: Characterization and quantification of full-length and truncated Na,K-ATPase alpha 1 and beta 1 RNA transcripts expressed in human retinal pigment epithelium. Gene. 1995 Apr 3;155(2):179-84. [PubMed
]
- Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C, Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K, Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C, Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G, Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V, Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M, Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J, French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM, Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD, Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S, Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S, Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K, Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G, Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL, Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z, Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R, Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S, Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD, Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF, Pandian RD, Porter KM, Prigmore E: The DNA sequence and biological annotation of human chromosome 1. Nature. 2006 May 18;441(7091):315-21. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Ushkaryov YuA, Monastyrskaya GS, Broude NE, Nikiforova NN, Bessarab DA, Orlova MYu, Petrukhin KE, Modyanov NN, Sverdlov ED: Human Na+,K+-ATPase genes. Beta-subunit gene family contains at least one gene and one pseudogene. FEBS Lett. 1989 Nov 6;257(2):439-42. [PubMed
]
- Zhang H, Li XJ, Martin DB, Aebersold R: Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry. Nat Biotechnol. 2003 Jun;21(6):660-6. Epub 2003 May 18. [PubMed
]
- Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. J Proteome Res. 2009 Feb;8(2):651-61. [PubMed
]
- Wollscheid B, Bausch-Fluck D, Henderson C, O'Brien R, Bibel M, Schiess R, Aebersold R, Watts JD: Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins. Nat Biotechnol. 2009 Apr;27(4):378-86. Epub 2009 Apr 6. [PubMed
]
|
| Enzyme 6 Metabolite References |
Not Available |
|
Enzyme 7
[top]
|
| Enzyme 7 ID |
6554 |
| Enzyme 7 Name |
Serine/threonine-protein kinase Sgk1 |
| Enzyme 7 Synonyms |
- Serum/glucocorticoid-regulated kinase 1
|
| Enzyme 7 Gene Name |
SGK1 |
| Enzyme 7 Protein Sequence |
>Serine/threonine-protein kinase Sgk1
MTVKTEAAKGTLTYSRMRGMVAILIAFMKQRRMGLNDFIQKIANNSYACKHPEVQSILKI
SQPQEPELMNANPSPPPSPSQQINLGPSSNPHAKPSDFHFLKVIGKGSFGKVLLARHKAE
EVFYAVKVLQKKAILKKKEEKHIMSERNVLLKNVKHPFLVGLHFSFQTADKLYFVLDYIN
GGELFYHLQRERCFLEPRARFYAAEIASALGYLHSLNIVYRDLKPENILLDSQGHIVLTD
FGLCKENIEHNSTTSTFCGTPEYLAPEVLHKQPYDRTVDWWCLGAVLYEMLYGLPPFYSR
NTAEMYDNILNKPLQLKPNITNSARHLLEGLLQKDRTKRLGAKDDFMEIKSHVFFSLINW
DDLINKKITPPFNPNVSGPNDLRHFDPEFTEEPVPNSIGKSPDSVLVTASVKEAAEAFLG
FSYAPPTDSFL
|
| Enzyme 7 Number of Residues |
431 |
| Enzyme 7 Molecular Weight |
48942.0 |
| Enzyme 7 Theoretical pI |
8.81 |
| Enzyme 7 GO Classification |
| Function |
- ATP binding
- adenyl nucleotide binding
- adenyl ribonucleotide binding
- binding
- catalytic activity
- kinase activity
- nucleoside binding
- protein kinase activity
- protein serine/threonine kinase activity
- purine nucleoside binding
- transferase activity
- transferase activity, transferring phosphorus-containing groups
|
| Process |
- cellular metabolic process
- metabolic process
- phosphate metabolic process
- phosphorus metabolic process
- phosphorylation
- protein amino acid phosphorylation
|
| Component |
| — |
|
| Enzyme 7 General Function |
Involved in protein serine/threonine kinase activity |
| Enzyme 7 Specific Function |
Protein kinase that plays an important role in cellular stress response. Activates certain potassium, sodium, and chloride channels, suggesting an involvement in the regulation of processes such as cell survival, neuronal excitability and renal sodium excretion. Sustained high levels and activity may contribute to conditions such as hypertension and diabetic nephropathy. Mediates cell survival signals, phosphorylates and negatively regulates pro-apoptotic FOXO3A. Phosphorylates NEDD4L, which leads to its inactivation and to the subsequent activation of various channels and transporters such as ENaC, KCNA3/Kv1.3 or EAAT1. Isoform 2 exhibited a greater effect on cell plasma membrane expression of ENaC and Na(+) transport than isoform 1 |
| Enzyme 7 Pathways |
Not Available |
| Enzyme 7 Reactions |
- ATP + a protein = ADP + a phosphoprotein [RN:R00162]
|
| Enzyme 7 Pfam Domain Function |
|
| Enzyme 7 Signals |
|
| Enzyme 7 Transmembrane Regions |
|
| Enzyme 7 Essentiality |
Not Available |
| Enzyme 7 GenBank ID Protein |
1834511  |
| Enzyme 7 UniProtKB/Swiss-Prot ID |
O00141  |
| Enzyme 7 UniProtKB/Swiss-Prot Entry Name |
SGK1_HUMAN  |
| Enzyme 7 PDB ID |
Not Available |
| Enzyme 7 Cellular Location |
Not Available |
| Enzyme 7 Gene Sequence |
>1296 bp
ATGACGGTGAAAACTGAGGCTGCTAAGGGCACCCTCACTTACTCCAGGATGAGGGGCATG
GTGGCAATTCTCATCGCTTTCATGAAGCAGAGGAGGATGGGTCTGAACGACTTTATTCAG
AAGATTGCCAATAACTCCTATGCATGCAAACACCCTGAAGTTCAGTCCATCTTGAAGATC
TCCCAACCTCAGGAGCCTGAGCTTATGAATGCCAACCCTTCTCCTCCACCAAGTCCTTCT
CAGCAAATCAACCTTGGCCCGTCGTCCAATCCTCATGCTAAACCATCTGACTTTCACTTC
TTGAAAGTGATCGGAAAGGGCAGTTTTGGAAAGGTTCTTCTAGCAAGACACAAGGCAGAA
GAAGTGTTCTATGCAGTCAAAGTTTTACAGAAGAAAGCAATCCTGAAAAAGAAAGAGGAG
AAGCATATTATGTCGGAGCGGAATGTTCTGTTGAAGAATGTGAAGCACCCTTTCCTGGTG
GGCCTTCACTTCTCTTTCCAGACTGCTGACAAATTGTACTTTGTCCTAGACTACATTAAT
GGTGGAGAGTTGTTCTACCATCTCCAGAGGGAACGCTGCTTCCTGGAACCACGGGCTCGT
TTCTATGCTGCTGAAATAGCCAGTGCCTTGGGCTACCTGCATTCACTGAACATCGTTTAT
AGAGACTTAAAACCAGAGAATATTTTGCTAGATTCACAGGGACACATTGTCCTTACTGAT
TTCGGACTCTGCAAGGAGAACATTGAACACAACAGCACAACATCCACCTTCTGTGGCACG
CCGGAGTATCTCGCACCTGAGGTGCTTCATAAGCAGCCTTATGACAGGACTGTGGACTGG
TGGTGCCTGGGAGCTGTCTTGTATGAGATGCTGTATGGCCTGCCGCCTTTTTATAGCCGA
AACACAGCTGAAATGTACGACAACATTCTGAACAAGCCTCTCCAGCTGAAACCAAATATT
ACAAATTCCGCAAGACACCTCCTGGAGGGCCTCCTGCAGAAGGACAGGACAAAGCGGCTC
GGGGCCAAGGATGACTTCATGGAGATTAAGAGTCATGTCTTCTTCTCCTTAATTAACTGG
GATGATCTCATTAATAAGAAGATTACTCCCCCTTTTAACCCAAATGTGAGTGGGCCCAAC
GAGCTACGGCACTTTGACCCCGAGTTTACCGAAGAGCCTGTCCCCAACTCCATTGGCAAG
TCCCCTGACAGCGTCCTCGTCACAGCCAGCGTCAAGGAAGCTGCCGAGGCTTTCCTAGGC
TTTTCCTATGCGCCTCCCACGGACTCTTTCCTCTGA
|
| Enzyme 7 GenBank Gene ID |
Y10032  |
| Enzyme 7 GeneCard ID |
SGK1  |
| Enzyme 7 GenAtlas ID |
SGK1  |
| Enzyme 7 HGNC ID |
HGNC:10810  |
| Enzyme 7 Chromosome Location |
6 |
| Enzyme 7 Locus |
6q23 |
| Enzyme 7 SNPs |
SNPJam Report  |
| Enzyme 7 General References |
- Waldegger S, Barth P, Raber G, Lang F: Cloning and characterization of a putative human serine/threonine protein kinase transcriptionally modified during anisotonic and isotonic alterations of cell volume. Proc Natl Acad Sci U S A. 1997 Apr 29;94(9):4440-5. [PubMed
]
- Waldegger S, Erdel M, Nagl UO, Barth P, Raber G, Steuer S, Utermann G, Paulmichl M, Lang F: Genomic organization and chromosomal localization of the human SGK protein kinase gene. Genomics. 1998 Jul 15;51(2):299-302. [PubMed
]
- Raikwar NS, Snyder PM, Thomas CP: An evolutionarily conserved N-terminal Sgk1 variant with enhanced stability and improved function. Am J Physiol Renal Physiol. 2008 Nov;295(5):F1440-8. Epub 2008 Aug 27. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L, Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J, Beck S: The DNA sequence and analysis of human chromosome 6. Nature. 2003 Oct 23;425(6960):805-11. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Kobayashi T, Deak M, Morrice N, Cohen P: Characterization of the structure and regulation of two novel isoforms of serum- and glucocorticoid-induced protein kinase. Biochem J. 1999 Nov 15;344 Pt 1:189-97. [PubMed
]
- Kobayashi T, Cohen P: Activation of serum- and glucocorticoid-regulated protein kinase by agonists that activate phosphatidylinositide 3-kinase is mediated by 3-phosphoinositide-dependent protein kinase-1 (PDK1) and PDK2. Biochem J. 1999 Apr 15;339 ( Pt 2):319-28. [PubMed
]
- Lang F, Klingel K, Wagner CA, Stegen C, Warntges S, Friedrich B, Lanzendorfer M, Melzig J, Moschen I, Steuer S, Waldegger S, Sauter M, Paulmichl M, Gerke V, Risler T, Gamba G, Capasso G, Kandolf R, Hebert SC, Massry SG, Broer S: Deranged transcriptional regulation of cell-volume-sensitive kinase hSGK in diabetic nephropathy. Proc Natl Acad Sci U S A. 2000 Jul 5;97(14):8157-62. [PubMed
]
- Brunet A, Park J, Tran H, Hu LS, Hemmings BA, Greenberg ME: Protein kinase SGK mediates survival signals by phosphorylating the forkhead transcription factor FKHRL1 (FOXO3a). Mol Cell Biol. 2001 Feb;21(3):952-65. [PubMed
]
- Snyder PM, Olson DR, Thomas BC: Serum and glucocorticoid-regulated kinase modulates Nedd4-2-mediated inhibition of the epithelial Na+ channel. J Biol Chem. 2002 Jan 4;277(1):5-8. Epub 2001 Nov 5. [PubMed
]
- Gamper N, Fillon S, Feng Y, Friedrich B, Lang PA, Henke G, Huber SM, Kobayashi T, Cohen P, Lang F: K+ channel activation by all three isoforms of serum- and glucocorticoid-dependent protein kinase SGK. Pflugers Arch. 2002 Oct;445(1):60-6. Epub 2002 Aug 28. [PubMed
]
- Boehmer C, Henke G, Schniepp R, Palmada M, Rothstein JD, Broer S, Lang F: Regulation of the glutamate transporter EAAT1 by the ubiquitin ligase Nedd4-2 and the serum and glucocorticoid-inducible kinase isoforms SGK1/3 and protein kinase B. J Neurochem. 2003 Sep;86(5):1181-8. [PubMed
]
- Maiyar AC, Leong ML, Firestone GL: Importin-alpha mediates the regulated nuclear targeting of serum- and glucocorticoid-inducible protein kinase (Sgk) by recognition of a nuclear localization signal in the kinase central domain. Mol Biol Cell. 2003 Mar;14(3):1221-39. [PubMed
]
- Henke G, Maier G, Wallisch S, Boehmer C, Lang F: Regulation of the voltage gated K+ channel Kv1.3 by the ubiquitin ligase Nedd4-2 and the serum and glucocorticoid inducible kinase SGK1. J Cell Physiol. 2004 May;199(2):194-9. [PubMed
]
- Zhou R, Snyder PM: Nedd4-2 phosphorylation induces serum and glucocorticoid-regulated kinase (SGK) ubiquitination and degradation. J Biol Chem. 2005 Feb 11;280(6):4518-23. Epub 2004 Dec 2. [PubMed
]
- Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. Mol Cell. 2008 Aug 8;31(3):438-48. [PubMed
]
- Arteaga MF, Coric T, Straub C, Canessa CM: A brain-specific SGK1 splice isoform regulates expression of ASIC1 in neurons. Proc Natl Acad Sci U S A. 2008 Mar 18;105(11):4459-64. Epub 2008 Mar 11. [PubMed
]
- Oppermann FS, Gnad F, Olsen JV, Hornberger R, Greff Z, Keri G, Mann M, Daub H: Large-scale proteomics analysis of the human kinome. Mol Cell Proteomics. 2009 Jul;8(7):1751-64. Epub 2009 Apr 15. [PubMed
]
- Greenman C, Stephens P, Smith R, Dalgliesh GL, Hunter C, Bignell G, Davies H, Teague J, Butler A, Stevens C, Edkins S, O'Meara S, Vastrik I, Schmidt EE, Avis T, Barthorpe S, Bhamra G, Buck G, Choudhury B, Clements J, Cole J, Dicks E, Forbes S, Gray K, Halliday K, Harrison R, Hills K, Hinton J, Jenkinson A, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Tofts C, Varian J, Webb T, West S, Widaa S, Yates A, Cahill DP, Louis DN, Goldstraw P, Nicholson AG, Brasseur F, Looijenga L, Weber BL, Chiew YE, DeFazio A, Greaves MF, Green AR, Campbell P, Birney E, Easton DF, Chenevix-Trench G, Tan MH, Khoo SK, Teh BT, Yuen ST, Leung SY, Wooster R, Futreal PA, Stratton MR: Patterns of somatic mutation in human cancer genomes. Nature. 2007 Mar 8;446(7132):153-8. [PubMed
]
|
| Enzyme 7 Metabolite References |
Not Available |
|
Enzyme 8
[top]
|
| Enzyme 8 ID |
6606 |
| Enzyme 8 Name |
Protein ATP1B4 |
| Enzyme 8 Synonyms |
- X,K-ATPase subunit beta-m
- X/potassium-transporting ATPase subunit beta-m
|
| Enzyme 8 Gene Name |
ATP1B4 |
| Enzyme 8 Protein Sequence |
>Protein ATP1B4
MRRQLRSRRAPSFPYSYRYRLDDPDEANQNYLADEEEEAEEEARVTVVPKSEEEEEEEEK
EEEEEEEKEEEEGQGQPTGNAWWQKLQIMSEYLWDPERRMFLARTGQSWSLILLIYFFFY
ASLAAVITLCMYTLFLTISPYIPTFTERVKPPGVMIRPFAHSLNFNFNVSEPDTWQHYVI
SLNGFLQGYNDSLQEEMNVDCPPGQYFIQDGNEDEDKKACQFKRSFLKNCSGLEDPTFGY
STGQPCILLKMNRIVGFRPELGDPVKVSCKVQRGDENDIRSISYYPESASFDLRYYPYYG
KLTHVNYTSPLVAMHFTDVVKNQAVPVQCQLKGKGVINDVINDRFVGRVIFTLNIET
|
| Enzyme 8 Number of Residues |
357 |
| Enzyme 8 Molecular Weight |
41597.4 |
| Enzyme 8 Theoretical pI |
4.40 |
| Enzyme 8 GO Classification |
| Function |
- cation transmembrane transporter activity
- inorganic cation transmembrane transporter activity
- ion transmembrane transporter activity
- monovalent inorganic cation transmembrane transporter activity
- potassium ion transmembrane transporter activity
- potassium-transporting ATPase activity
- sodium:potassium-exchanging ATPase activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- ATP biosynthetic process
- cation transport
- cellular nitrogen compound metabolic process
- establishment of localization
- ion transport
- metabolic process
- monovalent inorganic cation transport
- nitrogen compound metabolic process
- nucleobase, nucleoside and nucleotide metabolic process
- nucleobase, nucleoside, nucleotide and nucleic acid metabolic process
- nucleoside phosphate metabolic process
- nucleotide metabolic process
- potassium ion transport
- purine nucleoside triphosphate biosynthetic process
- purine nucleotide biosynthetic process
- purine nucleotide metabolic process
- purine ribonucleoside triphosphate biosynthetic process
- sodium ion transport
- transport
|
| Component |
|
|
| Enzyme 8 General Function |
Involved in sodium:potassium-exchanging ATPase activity |
| Enzyme 8 Specific Function |
May act as a transcriptional coregulator during muscle development through its interaction with SNW1. Has lost its ancestral function as a Na,K-ATPase beta-subunit |
| Enzyme 8 Pathways |
Not Available |
| Enzyme 8 Reactions |
Not Available |
| Enzyme 8 Pfam Domain Function |
|
| Enzyme 8 Signals |
|
| Enzyme 8 Transmembrane Regions |
|
| Enzyme 8 Essentiality |
Not Available |
| Enzyme 8 GenBank ID Protein |
5733590  |
| Enzyme 8 UniProtKB/Swiss-Prot ID |
Q9UN42  |
| Enzyme 8 UniProtKB/Swiss-Prot Entry Name |
AT1B4_HUMAN  |
| Enzyme 8 PDB ID |
Not Available |
| Enzyme 8 Cellular Location |
Not Available |
| Enzyme 8 Gene Sequence |
>1074 bp
ATGAGAAGGCAACTCCGGTCCAGAAGGGCTCCATCCTTTCCTTACAGTTATCGCTACAGA
CTCGATGATCCGGATGAAGCGAACCAGAACTACTTAGCAGATGAAGAGGAGGAAGCAGAA
GAAGAGGCTCGGGTGACGGTGGTGCCCAAATCGGAGGAGGAGGAAGAAGAGGAGGAGAAA
GAAGAGGAGGAAGAGGAGGAAAAGGAGGAGGAAGAGGGTCAAGGTCAGCCAACAGGCAAT
GCCTGGTGGCAGAAATTGCAGATCATGAGTGAATACCTGTGGGATCCAGAGAGAAGGATG
TTTCTGGCCCGAACAGGTCAGAGTTGGAGCCTGATCTTACTCATTTACTTCTTCTTCTAT
GCCTCCTTGGCTGCTGTGATCACCCTCTGCATGTACACACTATTTCTGACCATCAGTCCC
TATATACCAACCTTCACGGAGCGGGTAAAGCCTCCTGGAGTTATGATCAGACCCTTCGCC
CATAGCCTTAACTTCAACTTCAACGTTTCTGAACCCGACACTTGGCAGCATTATGTGATT
AGCCTAAATGGCTTTCTCCAGGGTTATAATGACAGTCTTCAAGAGGAAATGAATGTAGAT
TGTCCCCCGGGGCAGTACTTCATCCAAGATGGCAATGAGGATGAGGACAAGAAGGCCTGC
CAATTTAAGCGCTCCTTCCTAAAGAACTGCTCTGGTCTGGAGGACCCAACTTTTGGATAC
TCTACTGGACAGCCCTGCATCCTTCTAAAGATGAACCGGATTGTAGGCTTTCGTCCTGAG
CTTGGAGATCCTGTGAAGGTTTCCTGCAAAGTTCAGAGAGGTGATGAAAATGACATCCGA
TCCATCAGTTACTACCCAGAGTCGGCTTCTTTTGACCTCCGCTACTACCCTTACTACGGC
AAACTGACTCACGTTAACTACACATCCCCCTTGGTGGCAATGCACTTTACAGACGTGGTG
AAGAACCAAGCAGTGCCTGTGCAGTGCCAACTGAAGGGCAAAGGCGTCATAAATGATGTC
ATCAATGATCGTTTTGTGGGCAGGGTAATCTTTACCCTGAACATAGAAACTTAA
|
| Enzyme 8 GenBank Gene ID |
AF158383  |
| Enzyme 8 GeneCard ID |
ATP1B4  |
| Enzyme 8 GenAtlas ID |
ATP1B4  |
| Enzyme 8 HGNC ID |
HGNC:808  |
| Enzyme 8 Chromosome Location |
Not Available |
| Enzyme 8 Locus |
Not Available |
| Enzyme 8 SNPs |
SNPJam Report  |
| Enzyme 8 General References |
- Pestov NB, Adams G, Shakhparonov MI, Modyanov NN: Identification of a novel gene of the X,K-ATPase beta-subunit family that is predominantly expressed in skeletal and heart muscles. FEBS Lett. 1999 Aug 6;456(2):243-8. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Zhao H, Pestov NB, Korneenko TV, Shakhparonov MI, Modyanov NN: Accumulation of beta (m), a structural member of X,K-ATPase beta-subunit family, in nuclear envelopes of perinatal myocytes. Am J Physiol Cell Physiol. 2004 Apr;286(4):C757-67. Epub 2003 Dec 3. [PubMed
]
- Pestov NB, Ahmad N, Korneenko TV, Zhao H, Radkov R, Schaer D, Roy S, Bibert S, Geering K, Modyanov NN: Evolution of Na,K-ATPase beta m-subunit into a coregulator of transcription in placental mammals. Proc Natl Acad Sci U S A. 2007 Jul 3;104(27):11215-20. Epub 2007 Jun 25. [PubMed
]
|
| Enzyme 8 Metabolite References |
Not Available |
|
Enzyme 9
[top]
|
| Enzyme 9 ID |
6683 |
| Enzyme 9 Name |
Sodium/potassium-transporting ATPase subunit alpha-1 |
| Enzyme 9 Synonyms |
- Na(+)/K(+) ATPase alpha-1 subunit
- Sodium pump subunit alpha-1
|
| Enzyme 9 Gene Name |
ATP1A1 |
| Enzyme 9 Protein Sequence |
>Sodium/potassium-transporting ATPase subunit alpha-1
MGKGVGRDKYEPAAVSEQGDKKGKKGKKDRDMDELKKEVSMDDHKLSLDELHRKYGTDLS
RGLTSARAAEILARDGPNALTPPPTTPEWIKFCRQLFGGFSMLLWIGAILCFLAYSIQAA
TEEEPQNDNLYLGVVLSAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIRNGEKMSI
NAEEVVVGDLVEVKGGDRIPADLRIISANGCKVDNSSLTGESEPQTRSPDFTNENPLETR
NIAFFSTNCVEGTARGIVVYTGDRTVMGRIATLASGLEGGQTPIAAEIEHFIHIITGVAV
FLGVSFFILSLILEYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKN
LEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADTTENQSGVSFDKTSATWLA
LSRIAGLCNRAVFQANQENLPILKRAVAGDASESALLKCIELCCGSVKEMRERYAKIVEI
PFNSTNKYQLSIHKNPNTSEPQHLLVMKGAPERILDRCSSILLHGKEQPLDEELKDAFQN
AYLELGGLGERVLGFCHLFLPDEQFPEGFQFDTDDVNFPIDNLCFVGLISMIDPPRAAVP
DAVGKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDA
KACVVHGSDLKDMTSEQLDDILKYHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVN
DSPALKKADIGVAMGIAGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTL
TSNIPEITPFLIFIIANIPLPLGTVTILCIDLGTDMVPAISLAYEQAESDIMKRQPRNPK
TDKLVNERLISMAYGQIGMIQALGGFFTYFVILAENGFLPIHLLGLRVDWDDRWINDVED
SYGQQWTYEQRKIVEFTCHTAFFVSIVVVQWADLVICKTRRNSVFQQGMKNKILIFGLFE
ETALAAFLSYCPGMGVALRMYPLKPTWWFCAFPYSLLIFVYDEVRKLIIRRRPGGWVEKE
TYY
|
| Enzyme 9 Number of Residues |
1023 |
| Enzyme 9 Molecular Weight |
112895.0 |
| Enzyme 9 Theoretical pI |
5.15 |
| Enzyme 9 GO Classification |
| Function |
- ATP binding
- ATPase activity, coupled to transmembrane movement of ions
- ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism
- adenyl nucleotide binding
- adenyl ribonucleotide binding
- binding
- catalytic activity
- cation transmembrane transporter activity
- hydrolase activity
- hydrolase activity, acting on acid anhydrides
- hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances
- inorganic cation transmembrane transporter activity
- ion transmembrane transporter activity
- monovalent inorganic cation transmembrane transporter activity
- nucleoside binding
- purine nucleoside binding
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- ATP biosynthetic process
- cation transport
- cellular nitrogen compound metabolic process
- establishment of localization
- ion transport
- metabolic process
- monovalent inorganic cation transport
- nitrogen compound metabolic process
- nucleobase, nucleoside and nucleotide metabolic process
- nucleobase, nucleoside, nucleotide and nucleic acid metabolic process
- nucleoside phosphate metabolic process
- nucleotide metabolic process
- purine nucleoside triphosphate biosynthetic process
- purine nucleotide biosynthetic process
- purine nucleotide metabolic process
- purine ribonucleoside triphosphate biosynthetic process
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 9 General Function |
Involved in ATP binding |
| Enzyme 9 Specific Function |
This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients |
| Enzyme 9 Pathways |
Not Available |
| Enzyme 9 Reactions |
- ATP + H2O + Na+in + K+out = ADP + phosphate + Na+out + K+in [RN:R00086]
|
| Enzyme 9 Pfam Domain Function |
|
| Enzyme 9 Signals |
|
| Enzyme 9 Transmembrane Regions |
- 88-108
132-152
289-308
321-338
773-792
803-823
844-866
919-938
952-970
986-1006
|
| Enzyme 9 Essentiality |
Not Available |
| Enzyme 9 GenBank ID Protein |
Not Available |
| Enzyme 9 UniProtKB/Swiss-Prot ID |
P05023  |
| Enzyme 9 UniProtKB/Swiss-Prot Entry Name |
AT1A1_HUMAN  |
| Enzyme 9 PDB ID |
1MO8  |
| Enzyme 9 PDB File |
Show |
| Enzyme 9 3D Structure |
|
| Enzyme 9 Cellular Location |
Not Available |
| Enzyme 9 Gene Sequence |
>3072 bp
ATGGGGAAGGGGGTTGGACGTGATAAGTATGAGCCTGCAGCTGTTTCAGAACAAGGTGAT
AAAAAGGGCAAAAAGGGCAAAAAAGACAGGGACATGGATGAACTGAAGAAAGAAGTTTCT
ATGGATGATCATAAACTTAGCCTTGATGAACTTCATCGTAAATATGGAACAGACTTGAGC
CGGGGATTAACATCTGCTCGTGCAGCTGAGATCCTGGCGCGAGATGGTCCCAACGCCCTC
ACTCCCCCTCCCACTACTCCTGAATGGATCAAGTTTTGTCGGCAGCTCTTTGGGGGGTTC
TCAATGTTACTGTGGATTGGAGCGATTCTTTGTTTCTTGGCTTATAGCATCCAAGCTGCT
ACAGAAGAGGAACCTCAAAACGATAATCTGTACCTGGGTGTGGTGCTATCAGCCGTTGTA
ATCATAACTGGTTGCTTCTCCTACTATCAAGAAGCTAAAAGTTCAAAGATCATGGAATCC
TTCAAAAACATGGTCCCTCAGCAAGCCCTTGTGATTCGAAATGGTGAGAAAATGAGCATA
AATGCGGAGGAAGTTGTGGTTGGGGATCTGGTGGAAGTAAAAGGAGGAGACCGAATTCCT
GCTGACCTCAGAATCATATCTGCAAATGGCTGCAAGGTGGATAACTCCTCGCTCACTGGT
GAATCAGAACCCCAGACTAGGTCTCCAGATTTCACAAATGAAAACCCCCTGGAGACGAGG
AACATTGCCTTCTTTTCAACAAATTGTGTTGAAGGCACCGCACGTGGTATTGTTGTCTAC
ACTGGGGATCGCACTGTGATGGGAAGAATTGCCACACTTGCTTCTGGGCTGGAAGGAGGC
CAGACCCCCATTGCTGCAGAAATTGAACATTTTATCCACATCATCACGGGTGTGGCTGTG
TTCCTGGGTGTGTCTTTCTTCATCCTTTCTCTCATCCTTGAGTACACCTGGCTTGAGGCT
GTCATCTTCCTCATCGGTATCATCGTAGCCAATGTGCCGGAAGGTTTGCTGGCCACTGTC
ACGGTCTGTCTGACACTTACTGCCAAACGCATGGCAAGGAAAAACTGCTTAGTGAAGAAC
TTAGAAGCTGTGGAGACCTTGGGGTCCACGTCCACCATCTGCTCTGATAAAACTGGAACT
CTGACTCAGAACCGGATGACAGTGGCCCACATGTGGTTTGACAATCAAATCCATGAAGCT
GATACGACAGAGAATCAGAGTGGTGTCTCTTTTGACAAGACTTCAGCTACCTGGCTTGCT
CTGTCCAGAATTGCAGGTCTTTGTAACAGGGCAGTGTTTCAGGCTAACCAGGAAAACCTA
CCTATTCTTAAGCGGGCAGTTGCAGGAGATGCCTCTGAGTCAGCACTCTTAAAGTGCATA
GAGCTGTGCTGTGGTTCCGTGAAGGAGATGAGAGAAAGATACGCCAAAATCGTCGAGATA
CCCTTCAACTCCACCAACAAGTACCAGTTGTCTATTCATAAGAACCCCAACACATCGGAG
CCCCAACACCTGTTGGTGATGAAGGGCGCCCCAGAAAGGATCCTAGACCGTTGCAGCTCT
ATCCTCCTCCACGGCAAGGAGCAGCCCCTGGATGAGGAGCTGAAAGACGCCTTTCAGAAC
GCCTATTTGGAGCTGGGGGGCCTCGGAGAACGAGTCCTAGGTTTCTGCCACCTCTTTCTG
CCAGATGAACAGTTTCCTGAAGGGTTCCAGTTTGACACTGACGATGTGAATTTCCCTATC
GATAATCTGTGCTTTGTTGGGCTCATCTCCATGATTGACCCTCCACGGGCGGCCGTTCCT
GATGCCGTGGGCAAATGTCGAAGTGCTGGAATTAAGGTCATCATGGTCACAGGAGACCAT
CCAATCACAGCTAAAGCTATTGCCAAAGGTGTGGGCATCATCTCAGAAGGCAATGAGACC
GTGGAAGACATTGCTGCCCGCCTCAACATCCCAGTCAGCCAGGTGAACCCCAGGGATGCC
AAGGCCTGCGTAGTACACGGCAGTGATCTAAAGGACATGACCTCCGAGCAGCTGGATGAC
ATTTTGAAGTACCACACTGAGATAGTGTTTGCCAGGACCTCCCCTCAGCAGAAGCTCATC
ATTGTGGAAGGCTGCCAAAGACAGGGTGCTATCGTGGCTGTGACTGGTGACGGTGTGAAT
GACTCTCCAGCTTTGAAGAAAGCAGACATTGGGGTTGCTATGGGGATTGCTGGCTCAGAT
GTGTCCAAGCAAGCTGCTGACATGATTCTTCTGGATGACAACTTTGCCTCAATTGTGACT
GGAGTAGAGGAAGGTCGTCTGATCTTTGATAACTTGAAGAAATCCATTGCTTATACCTTA
ACCAGTAACATTCCCGAGATCACCCCGTTCCTGATATTTATTATTGCAAACATTCCACTA
CCACTGGGGACTGTCACCATCCTCTGCATTGACTTGGGCACTGACATGGTTCCTGCCATC
TCCCTGGCTTATGAGCAGGCTGAGAGTGACATCATGAAGAGACAGCCCAGAAATCCCAAA
ACAGACAAACTTGTGAATGAGCGGCTGATCAGCATGGCCTATGGGCAGATTGGAATGATC
CAGGCCCTGGGAGGCTTCTTTACTTACTTTGTGATTCTGGCTGAGAACGGCTTCCTCCCA
ATTCACCTGTTGGGCCTCCGAGTGGACTGGGATGACCGCTGGATCAACGATGTGGAAGAC
AGCTACGGGCAGCAGTGGACCTATGAGCAGAGGAAAATCGTGGAGTTCACCTGCCACACA
GCCTTCTTCGTCAGTATCGTGGTGGTGCAGTGGGCCGACTTGGTCATCTGTAAGACCAGG
AGGAATTCGGTCTTCCAGCAGGGGATGAAGAACAAGATCTTGATATTTGGCCTCTTTGAA
GAGACAGCCCTGGCTGCTTTCCTTTCCTACTGCCCTGGAATGGGTGTTGCTCTTAGGATG
TATCCCCTCAAACCTACCTGGTGGTTCTGTGCCTTCCCCTACTCTCTTCTCATCTTCGTA
TATGACGAAGTCAGAAAACTCATCATCAGGCGACGCCCTGGCGGCTGGGTGGAGAAGGAA
ACCTACTATTAG
|
| Enzyme 9 GenBank Gene ID |
D00099  |
| Enzyme 9 GeneCard ID |
ATP1A1  |
| Enzyme 9 GenAtlas ID |
ATP1A1  |
| Enzyme 9 HGNC ID |
HGNC:799  |
| Enzyme 9 Chromosome Location |
1 |
| Enzyme 9 Locus |
1p21 |
| Enzyme 9 SNPs |
SNPJam Report  |
| Enzyme 9 General References |
- Kawakami K, Ohta T, Nojima H, Nagano K: Primary structure of the alpha-subunit of human Na,K-ATPase deduced from cDNA sequence. J Biochem (Tokyo). 1986 Aug;100(2):389-97. [PubMed
]
- Ruiz A, Bhat SP, Bok D: Characterization and quantification of full-length and truncated Na,K-ATPase alpha 1 and beta 1 RNA transcripts expressed in human retinal pigment epithelium. Gene. 1995 Apr 3;155(2):179-84. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C, Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K, Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C, Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G, Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V, Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M, Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J, French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM, Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD, Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S, Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S, Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K, Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G, Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL, Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z, Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R, Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S, Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD, Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF, Pandian RD, Porter KM, Prigmore E: The DNA sequence and biological annotation of human chromosome 1. Nature. 2006 May 18;441(7091):315-21. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Shull MM, Pugh DG, Lingrel JB: The human Na, K-ATPase alpha 1 gene: characterization of the 5'-flanking region and identification of a restriction fragment length polymorphism. Genomics. 1990 Mar;6(3):451-60. [PubMed
]
- Shull MM, Lingrel JB: Multiple genes encode the human Na+,K+-ATPase catalytic subunit. Proc Natl Acad Sci U S A. 1987 Jun;84(12):4039-43. [PubMed
]
- Chehab FF, Kan YW, Law ML, Hartz J, Kao FT, Blostein R: Human placental Na+,K+-ATPase alpha subunit: cDNA cloning, tissue expression, DNA polymorphism, and chromosomal localization. Proc Natl Acad Sci U S A. 1987 Nov;84(22):7901-5. [PubMed
]
- Chicz RM, Urban RG, Lane WS, Gorga JC, Stern LJ, Vignali DA, Strominger JL: Predominant naturally processed peptides bound to HLA-DR1 are derived from MHC-related molecules and are heterogeneous in size. Nature. 1992 Aug 27;358(6389):764-8. [PubMed
]
- Sverdlov ED, Monastyrskaya GS, Broude NE, Ushkaryov YuA, Allikmets RL, Melkov AM, Smirnov YuV, Malyshev IV, Dulobova IE, Petrukhin KE, et al.: The family of human Na+,K+-ATPase genes. No less than five genes and/or pseudogenes related to the alpha-subunit. FEBS Lett. 1987 Jun 15;217(2):275-8. [PubMed
]
- Hillman RT, Green RE, Brenner SE: An unappreciated role for RNA surveillance. Genome Biol. 2004;5(2):R8. Epub 2004 Feb 2. [PubMed
]
- Chi A, Valencia JC, Hu ZZ, Watabe H, Yamaguchi H, Mangini NJ, Huang H, Canfield VA, Cheng KC, Yang F, Abe R, Yamagishi S, Shabanowitz J, Hearing VJ, Wu C, Appella E, Hunt DF: Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. J Proteome Res. 2006 Nov;5(11):3135-44. [PubMed
]
- Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, Nardone J, Lee K, Reeves C, Li Y, Hu Y, Tan Z, Stokes M, Sullivan L, Mitchell J, Wetzel R, Macneill J, Ren JM, Yuan J, Bakalarski CE, Villen J, Kornhauser JM, Smith B, Li D, Zhou X, Gygi SP, Gu TL, Polakiewicz RD, Rush J, Comb MJ: Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer. Cell. 2007 Dec 14;131(6):1190-203. [PubMed
]
- Wolf-Yadlin A, Hautaniemi S, Lauffenburger DA, White FM: Multiple reaction monitoring for robust quantitative proteomic analysis of cellular signaling networks. Proc Natl Acad Sci U S A. 2007 Apr 3;104(14):5860-5. Epub 2007 Mar 26. [PubMed
]
- Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. Anal Chem. 2009 Jun 1;81(11):4493-501. [PubMed
]
- Heibeck TH, Ding SJ, Opresko LK, Zhao R, Schepmoes AA, Yang F, Tolmachev AV, Monroe ME, Camp DG 2nd, Smith RD, Wiley HS, Qian WJ: An extensive survey of tyrosine phosphorylation revealing new sites in human mammary epithelial cells. J Proteome Res. 2009 Aug;8(8):3852-61. [PubMed
]
- Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. Sci Signal. 2009 Aug 18;2(84):ra46. [PubMed
]
|
| Enzyme 9 Metabolite References |
Not Available |
|
Enzyme 10
[top]
|
| Enzyme 10 ID |
6712 |
| Enzyme 10 Name |
Sodium/potassium-transporting ATPase subunit alpha-3 |
| Enzyme 10 Synonyms |
- Na(+)/K(+) ATPase alpha-3 subunit
- Na(+)/K(+) ATPase alpha(III) subunit
- Sodium pump subunit alpha-3
|
| Enzyme 10 Gene Name |
ATP1A3 |
| Enzyme 10 Protein Sequence |
>Sodium/potassium-transporting ATPase subunit alpha-3
MGDKKDDKDSPKKNKGKERRDLDDLKKEVAMTEHKMSVEEVCRKYNTDCVQGLTHSKAQE
ILARDGPNALTPPPTTPEWVKFCRQLFGGFSILLWIGAILCFLAYGIQAGTEDDPSGDNL
YLGIVLAAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIREGEKMQVNAEEVVVGDL
VEIKGGDRVPADLRIISAHGCKVDNSSLTGESEPQTRSPDCTHDNPLETRNITFFSTNCV
EGTARGVVVATGDRTVMGRIATLASGLEVGKTPIAIEIEHFIQLITGVAVFLGVSFFILS
LILGYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGST
STICSDKTGTLTQNRMTVAHMWFDNQIHEADTTEDQSGTSFDKSSHTWVALSHIAGLCNR
AVFKGGQDNIPVLKRDVAGDASESALLKCIELSSGSVKLMRERNKKVAEIPFNSTNKYQL
SIHETEDPNDNRYLLVMKGAPERILDRCSTILLQGKEQPLDEEMKEAFQNAYLELGGLGE
RVLGFCHYYLPEEQFPKGFAFDCDDVNFTTDNLCFVGLMSMIDPPRAAVPDAVGKCRSAG
IKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDAKACVIHGTDL
KDFTSEQIDEILQNHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADI
GVAMGIAGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPF
LLFIMANIPLPLGTITILCIDLGTDMVPAISLAYEAAESDIMKRQPRNPRTDKLVNERLI
SMAYGQIGMIQALGGFFSYFVILAENGFLPGNLVGIRLNWDDRTVNDLEDSYGQQWTYEQ
RKVVEFTCHTAFFVSIVVVQWADLIICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSY
CPGMDVALRMYPLKPSWWFCAFPYSFLIFVYDEIRKLILRRNPGGWVEKETYY
|
| Enzyme 10 Number of Residues |
1013 |
| Enzyme 10 Molecular Weight |
111747.5 |
| Enzyme 10 Theoretical pI |
5.02 |
| Enzyme 10 GO Classification |
| Function |
- ATP binding
- ATPase activity, coupled to transmembrane movement of ions
- ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism
- adenyl nucleotide binding
- adenyl ribonucleotide binding
- binding
- catalytic activity
- cation transmembrane transporter activity
- hydrolase activity
- hydrolase activity, acting on acid anhydrides
- hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances
- inorganic cation transmembrane transporter activity
- ion transmembrane transporter activity
- monovalent inorganic cation transmembrane transporter activity
- nucleoside binding
- purine nucleoside binding
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- ATP biosynthetic process
- cation transport
- cellular nitrogen compound metabolic process
- establishment of localization
- ion transport
- metabolic process
- monovalent inorganic cation transport
- nitrogen compound metabolic process
- nucleobase, nucleoside and nucleotide metabolic process
- nucleobase, nucleoside, nucleotide and nucleic acid metabolic process
- nucleoside phosphate metabolic process
- nucleotide metabolic process
- purine nucleoside triphosphate biosynthetic process
- purine nucleotide biosynthetic process
- purine nucleotide metabolic process
- purine ribonucleoside triphosphate biosynthetic process
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 10 General Function |
Involved in ATP binding |
| Enzyme 10 Specific Function |
This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients |
| Enzyme 10 Pathways |
Not Available |
| Enzyme 10 Reactions |
- ATP + H2O + Na+in + K+out = ADP + phosphate + Na+out + K+in [RN:R00086]
|
| Enzyme 10 Pfam Domain Function |
|
| Enzyme 10 Signals |
|
| Enzyme 10 Transmembrane Regions |
- 78-98
122-142
279-298
311-328
763-782
793-813
834-856
909-928
942-960
976-996
|
| Enzyme 10 Essentiality |
Not Available |
| Enzyme 10 GenBank ID Protein |
14424520  |
| Enzyme 10 UniProtKB/Swiss-Prot ID |
P13637  |
| Enzyme 10 UniProtKB/Swiss-Prot Entry Name |
AT1A3_HUMAN  |
| Enzyme 10 PDB ID |
Not Available |
| Enzyme 10 Cellular Location |
Not Available |
| Enzyme 10 Gene Sequence |
>3042 bp
ATGGGGGACAAGAAAGATGACAAGGACTCACCCAAGAAGAACAAGGGCAAGGAGCGCCGG
GACCTGGATGACCTCAAGAAGGAGGTGGCTATGACAGAGCACAAGATGTCAGTGGAAGAG
GTCTGCCGGAAATACAACACAGACTGTGTGCAGGGTTTGACCCACAGCAAAGCCCAGGAG
ATCCTGGCCCGGGATGGGCCTAACGCACTCACGCCACCGCCTACCACCCCAGAGTGGGTC
AAGTTTTGCCGGCAGCTCTTCGGGGGCTTCTCCATCCTGCTGTGGATCGGGGCTATCCTC
TGCTTCCTGGCCTACGGTATCCAGGCGGGCACCGAGGACGACCCCTCTGGTGACAACCTG
TACCTGGGCATCGTGCTGGCGGCCGTGGTGATCATCACTGGCTGCTTCTCCTACTACCAG
GAGGCCAAGAGCTCCAAGATCATGGAGTCCTTCAAGAACATGGTGCCCCAGCAAGCCCTG
GTGATCCGGGAAGGTGAGAAGATGCAGGTGAACGCTGAGGAGGTGGTGGTCGGGGACCTG
GTGGAGATCAAGGGTGGAGACCGAGTGCCAGCTGACCTGCGGATCATCTCAGCCCACGGC
TGCAAGGTGGACAACTCCTCCCTGACTGGCGAATCCGAGCCCCAGACTCGCTCTCCCGAC
TGCACGCACGACAACCCCTTGGAGACTCGGAACATCACCTTCTTTTCCACCAACTGTGTG
GAAGGCACGGCTCGGGGCGTGGTGGTGGCCACGGGCGACCGCACTGTCATGGGCCGTATC
GCCACCCTGGCATCAGGGCTGGAGGTGGGCAAGACGCCCATCGCCATCGAGATTGAGCAC
TTCATCCAGCTCATCACCGGCGTGGCTGTCTTCCTGGGTGTCTCCTTCTTCATCCTCTCC
CTCATTCTCGGATACACCTGGCTTGAGGCTGTCATCTTCCTCATCGGCATCATCGTGGCC
AATGTCCCAGAGGGTCTGCTGGCCACTGTCACTGTGTGTCTGACGCTGACCGCCAAGCGC
ATGGCCCGGAAGAACTGCCTGGTGAAGAACCTGGAGGCTGTAGAAACCCTGGGCTCCACG
TCCACCATCTGCTCAGATAAGACAGGGACCCTCACTCAGAACCGCATGACAGTCGCCCAC
ATGTGGTTTGACAACCAGATCCACGAGGCTGACACCACTGAGGACCAGTCAGGGACCTCA
TTTGACAAGAGTTCGCACACCTGGGTGGCCCTGTCTCACATCGCTGGGCTCTGCAATCGC
GCTGTCTTCAAGGGTGGTCAGGACAACATCCCTGTGCTCAAGAGGGATGTGGCTGGGGAT
GCGTCTGAGTCTGCCCTGCTCAAGTGCATCGAGCTGTCCTCTGGCTCCGTGAAGCTGATG
CGTGAACGCAACAAGAAAGTGGCTGAGATTCCCTTCAATTCCACCAACAAATACCAGCTC
TCCATCCATGAGACCGAGGACCCCAACGACAACCGATACCTGCTGGTGATGAAGGGTGCC
CCCGAGCGCATCCTGGACCGCTGCTCCACCATCCTGCTACAGGGCAAGGAGCAGCCTCTG
GACGAGGAAATGAAGGAGGCCTTCCAGAATGCCTACCTTGAGCTCGGTGGCCTGGGCGAG
CGCGTGCTTGGTTTCTGCCATTATTACCTGCCCGAGGAGCAGTTCCCCAAGGGCTTTGCC
TTCGACTGTGATGACGTGAACTTCACCACGGACAACCTCTGCTTTGTGGGCCTCATGTCC
ATGATCGACCCACCCCGGGCAGCCGTCCCTGACGCGGTGGGCAAGTGTCGCAGCGCAGGC
ATCAAGGTCATCATGGTCACCGGCGATCACCCCATCACGGCCAAGGCCATTGCCAAGGGT
GTGGGCATCATCTCTGAGGGCAACGAGACTGTGGAGGACATCGCCGCCCGGCTCAACATT
CCCGTCAGCCAGGTTAACCCCCGGGATGCCAAGGCCTGCGTGATCCACGGCACCGACCTC
AAGGACTTCACCTCCGAGCAAATCGACGAGATCCTGCAGAATCACACCGAGATCGTCTTC
GCCCGCACATCCCCCCAGCAGAAGCTCATCATTGTGGAGGGCTGTCAGAGACAGGGTGCA
ATTGTGGCTGTGACCGGGGATGGTGTGAACGACTCCCCCGCTCTGAAGAAGGCCGACATT
GGGGTGGCCATGGGCATCGCTGGCTCTGACGTCTCCAAGCAGGCAGCTGACATGATCCTG
CTGGACGACAACTTTGCCTCCATCGTCACAGGGGTGGAGGAGGGCCGCCTGATCTTCGAC
AACCTAAAGAAGTCCATTGCCTACACCCTGACCAGCAATATCCCGGAGATCACGCCCTTC
CTGCTGTTCATCATGGCCAACATCCCGCTGCCCCTGGGCACCATCACCATCCTCTGCATC
GATCTGGGCACTGACATGGTCCCTGCCATCTCACTGGCGTACGAGGCTGCCGAAAGCGAC
ATCATGAAGAGACAGCCCAGGAACCCGCGGACGGACAAATTGGTCAATGAGAGACTCATC
AGCATGGCCTACGGGCAGATTGGAATGATCCAGGCTCTCGGTGGCTTCTTCTCTTACTTT
GTGATCCTGGCAGAAAATGGCTTCTTGCCCGGCAACCTGGTGGGCATCCGGCTGAACTGG
GATGACCGCACCGTCAATGACCTGGAAGACAGTTACGGGCAGCAGTGGACATACGAGCAG
AGGAAGGTGGTGGAGTTCACCTGCCACACGGCCTTCTTTGTGAGCATCGTTGTCGTCCAG
TGGGCCGATCTGATCATCTGCAAGACCCGGAGGAACTCGGTCTTCCAGCAGGGCATGAAG
AACAAGATCCTGATCTTCGGGCTGTTTGAGGAGACGGCCCTGGCTGCCTTCCTGTCCTAC
TGCCCCGGCATGGACGTGGCCCTGCGCATGTACCCTCTCAAGCCCAGCTGGTGGTTCTGT
GCCTTCCCCTACAGTTTCCTCATCTTCGTCTACGACGAAATCCGCAAACTCATCCTGCGC
AGGAACCCAGGGGGTTGGGTGGAGAAGGAAACCTACTACTGA
|
| Enzyme 10 GenBank Gene ID |
BC009282  |
| Enzyme 10 GeneCard ID |
ATP1A3  |
| Enzyme 10 GenAtlas ID |
ATP1A3  |
| Enzyme 10 HGNC ID |
HGNC:801  |
| Enzyme 10 Chromosome Location |
1 |
| Enzyme 10 Locus |
19q13.31 |
| Enzyme 10 SNPs |
SNPJam Report  |
| Enzyme 10 General References |
- Ovchinnikov YuA, Monastyrskaya GS, Broude NE, Ushkaryov YuA, Melkov AM, Smirnov YuV, Malyshev IV, Allikmets RL, Kostina MB, Dulubova IE, et al.: Family of human Na+, K+-ATPase genes. Structure of the gene for the catalytic subunit (alpha III-form) and its relationship with structural features of the protein. FEBS Lett. 1988 Jun 6;233(1):87-94. [PubMed
]
- Sverdlov ED, Monastyrskaia GS, Broude NE, Ushkarev IuA, Melkov AM: [The family of human Na+,K+-ATPase genes. Structure of the gene for isozyme alphaII] Dokl Akad Nauk SSSR. 1987;297(6):1488-94. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Ovchinnikov YuA, Monastyrskaya GS, Broude NE, Allikmets RL, Ushkaryov YuA, Melkov AM, Smirnov YuV, Malyshev IV, Dulubova IE, Petrukhin KE, et al.: The family of human Na+,K+-ATPase genes. A partial nucleotide sequence related to the alpha-subunit. FEBS Lett. 1987 Mar 9;213(1):73-80. [PubMed
]
- Sverdlov ED, Monastyrskaya GS, Broude NE, Ushkaryov YuA, Allikmets RL, Melkov AM, Smirnov YuV, Malyshev IV, Dulobova IE, Petrukhin KE, et al.: The family of human Na+,K+-ATPase genes. No less than five genes and/or pseudogenes related to the alpha-subunit. FEBS Lett. 1987 Jun 15;217(2):275-8. [PubMed
]
- de Carvalho Aguiar P, Sweadner KJ, Penniston JT, Zaremba J, Liu L, Caton M, Linazasoro G, Borg M, Tijssen MA, Bressman SB, Dobyns WB, Brashear A, Ozelius LJ: Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron. 2004 Jul 22;43(2):169-75. [PubMed
]
|
| Enzyme 10 Metabolite References |
Not Available |
|
Enzyme 11
[top]
|
| Enzyme 11 ID |
6830 |
| Enzyme 11 Name |
Sodium/potassium-transporting ATPase subunit alpha-2 |
| Enzyme 11 Synonyms |
- Na(+)/K(+) ATPase alpha-2 subunit
- Sodium pump subunit alpha-2
|
| Enzyme 11 Gene Name |
ATP1A2 |
| Enzyme 11 Protein Sequence |
>Sodium/potassium-transporting ATPase subunit alpha-2
MGRGAGREYSPAATTAENGGGKKKQKEKELDELKKEVAMDDHKLSLDELGRKYQVDLSKG
LTNQRAQDVLARDGPNALTPPPTTPEWVKFCRQLFGGFSILLWIGAILCFLAYGIQAAME
DEPSNDNLYLGVVLAAVVIVTGCFSYYQEAKSSKIMDSFKNMVPQQALVIREGEKMQINA
EEVVVGDLVEVKGGDRVPADLRIISSHGCKVDNSSLTGESEPQTRSPEFTHENPLETRNI
CFFSTNCVEGTARGIVIATGDRTVMGRIATLASGLEVGRTPIAMEIEHFIQLITGVAVFL
GVSFFVLSLILGYSWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLE
AVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADTTEDQSGATFDKRSPTWTALS
RIAGLCNRAVFKAGQENISVSKRDTAGDASESALLKCIELSCGSVRKMRDRNPKVAEIPF
NSTNKYQLSIHEREDSPQSHVLVMKGAPERILDRCSTILVQGKEIPLDKEMQDAFQNAYM
ELGGLGERVLGFCQLNLPSGKFPRGFKFDTDELNFPTEKLCFVGLMSMIDPPRAAVPDAV
GKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPMSQVNPREAKAC
VVHGSDLKDMTSEQLDEILKNHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSP
ALKKADIGIAMGISGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSN
IPEITPFLLFIIANIPLPLGTVTILCIDLGTDMVPAISLAYEAAESDIMKRQPRNSQTDK
LVNERLISMAYGQIGMIQALGGFFTYFVILAENGFLPSRLLGIRLDWDDRTMNDLEDSYG
QEWTYEQRKVVEFTCHTAFFASIVVVQWADLIICKTRRNSVFQQGMKNKILIFGLLEETA
LAAFLSYCPGMGVALRMYPLKVTWWFCAFPYSLLIFIYDEVRKLILRRYPGGWVEKETYY
|
| Enzyme 11 Number of Residues |
1020 |
| Enzyme 11 Molecular Weight |
112264.4 |
| Enzyme 11 Theoretical pI |
5.33 |
| Enzyme 11 GO Classification |
| Function |
- ATP binding
- ATPase activity, coupled to transmembrane movement of ions
- ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism
- adenyl nucleotide binding
- adenyl ribonucleotide binding
- binding
- catalytic activity
- cation transmembrane transporter activity
- hydrolase activity
- hydrolase activity, acting on acid anhydrides
- hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances
- inorganic cation transmembrane transporter activity
- ion transmembrane transporter activity
- monovalent inorganic cation transmembrane transporter activity
- nucleoside binding
- purine nucleoside binding
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- ATP biosynthetic process
- cation transport
- cellular nitrogen compound metabolic process
- establishment of localization
- ion transport
- metabolic process
- monovalent inorganic cation transport
- nitrogen compound metabolic process
- nucleobase, nucleoside and nucleotide metabolic process
- nucleobase, nucleoside, nucleotide and nucleic acid metabolic process
- nucleoside phosphate metabolic process
- nucleotide metabolic process
- purine nucleoside triphosphate biosynthetic process
- purine nucleotide biosynthetic process
- purine nucleotide metabolic process
- purine ribonucleoside triphosphate biosynthetic process
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 11 General Function |
Involved in ATP binding |
| Enzyme 11 Specific Function |
This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium, providing the energy for active transport of various nutrients |
| Enzyme 11 Pathways |
Not Available |
| Enzyme 11 Reactions |
- ATP + H2O + Na+in + K+out = ADP + phosphate + Na+out + K+in [RN:R00086]
|
| Enzyme 11 Pfam Domain Function |
|
| Enzyme 11 Signals |
|
| Enzyme 11 Transmembrane Regions |
- 86-106
130-150
287-306
319-336
770-789
800-820
841-863
916-935
949-967
983-1003
|
| Enzyme 11 Essentiality |
Not Available |
| Enzyme 11 GenBank ID Protein |
4502271  |
| Enzyme 11 UniProtKB/Swiss-Prot ID |
P50993  |
| Enzyme 11 UniProtKB/Swiss-Prot Entry Name |
AT1A2_HUMAN  |
| Enzyme 11 PDB ID |
1Q3I  |
| Enzyme 11 PDB File |
Show |
| Enzyme 11 3D Structure |
|
| Enzyme 11 Cellular Location |
Not Available |
| Enzyme 11 Gene Sequence |
>3063 bp
ATGGGCCGTGGGGCTGGCCGTGAGTACTCACCTGCCGCCACCACGGCAGAGAATGGGGGC
GGCAAGAAGAAACAGAAGGAGAAGGAACTGGATGAGCTGAAGAAGGAGGTGGCAATGGAT
GACCACAAGCTGTCCTTGGATGAGCTGGGCCGCAAATACCAAGTGGACCTGTCCAAGGGC
CTCACCAACCAGCGGGCTCAGGACGTTCTGGCTCGAGATGGGCCCAACGCCCTCACACCA
CCTCCCACAACCCCTGAGTGGGTCAAGTTCTGCCGTCAGCTTTTCGGGGGGTTCTCCATC
CTGCTGTGGATTGGGGCTATCCTCTGCTTCCTGGCCTACGGCATCCAGGCTGCCATGGAG
GATGAACCATCCAACGACAATCTATATCTGGGTGTGGTGCTGGCAGCTGTGGTCATTGTC
ACTGGCTGCTTCTCCTACTACCAGGAGGCCAAGAGCTCCAAGATCATGGATTCCTTCAAG
AACATGGTACCTCAGCAAGCCCTTGTGATCCGGGAGGGAGAGAAGATGCAGATCAACGCA
GAGGAAGTGGTGGTGGGAGACCTGGTGGAGGTGAAGGGTGGAGACCGCGTCCCTGCTGAC
CTCCGGATCATCTCTTCTCATGGCTGTAAGGTGGATAACTCATCCTTAACAGGAGAGTCG
GAGCCCCAGACCCGCTCCCCCGAGTTCACCCATGAGAACCCCCTGGAGACCCGCAATATC
TGTTTCTTCTCCACCAACTGTGTTGAAGGCACTGCCAGGGGCATTGTGATTGCCACAGGA
GACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACA
CCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGTCGCTGTATTCCTG
GGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATC
TTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTG
TGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAG
GCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACC
CAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACC
ACCGAAGATCAGTCTGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCT
CGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTG
TCTAAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTC
TCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTC
AACTCTACCAACAAGTACCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCAC
GTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTG
CAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATG
GAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGATTCTGTCAACTGAATCTGCCATCTGGA
AAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTT
TGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTG
GGCAAGTGCCGAAGCGCAGGCATCAAGGTGATCATGGTAACCGGGGATCACCCTATCACA
GCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGAC
ATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGAGAAGCCAAGGCATGC
GTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAG
AACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAG
GGATGTCAGAGGCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCT
GCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAG
CAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAG
GAGGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAAC
ATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGC
ACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTCCCTGCCATCTCCTTGGCC
TATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAG
CTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGGATGATCCAGGCACTG
GGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTA
CTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGA
CAGGAGTGGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTT
GCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCA
GTCTTCCAGCAGGGCATGAAGAACAAGATCCTGATTTTTGGGCTCCTGGAGGAGACGGCG
TTGGCTGCCTTTCTCTCTTACTGCCCAGGCATGGGTGTAGCCCTCCGCATGTACCCGCTC
AAAGTCACCTGGTGGTTCTGCGCCTTCCCCTACAGCCTCCTCATCTTCATCTATGATGAG
GTCCGAAAGCTCATCCTGCGGCGGTATCCTGGTGGCTGGGTGGAGAAGGAGACATACTAC
TGA
|
| Enzyme 11 GenBank Gene ID |
NM_000702.3  |
| Enzyme 11 GeneCard ID |
ATP1A2  |
| Enzyme 11 GenAtlas ID |
ATP1A2  |
| Enzyme 11 HGNC ID |
HGNC:800  |
| Enzyme 11 Chromosome Location |
1 |
| Enzyme 11 Locus |
1q21-q23 |
| Enzyme 11 SNPs |
SNPJam Report  |
| Enzyme 11 General References |
- Shull MM, Pugh DG, Lingrel JB: Characterization of the human Na,K-ATPase alpha 2 gene and identification of intragenic restriction fragment length polymorphisms. J Biol Chem. 1989 Oct 15;264(29):17532-43. [PubMed
]
- Nagase T, Ishikawa K, Suyama M, Kikuno R, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O: Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 1998 Oct 30;5(5):277-86. [PubMed
]
- Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C, Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K, Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C, Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G, Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V, Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M, Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J, French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM, Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD, Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S, Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S, Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K, Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G, Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL, Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z, Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R, Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S, Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD, Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF, Pandian RD, Porter KM, Prigmore E: The DNA sequence and biological annotation of human chromosome 1. Nature. 2006 May 18;441(7091):315-21. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Shull MM, Lingrel JB: Multiple genes encode the human Na+,K+-ATPase catalytic subunit. Proc Natl Acad Sci U S A. 1987 Jun;84(12):4039-43. [PubMed
]
- Sverdlov ED, Monastyrskaya GS, Broude NE, Ushkaryov YuA, Allikmets RL, Melkov AM, Smirnov YuV, Malyshev IV, Dulobova IE, Petrukhin KE, et al.: The family of human Na+,K+-ATPase genes. No less than five genes and/or pseudogenes related to the alpha-subunit. FEBS Lett. 1987 Jun 15;217(2):275-8. [PubMed
]
- Sverdlov ED, Bessarab DA, Malyshev IV, Petrukhin KE, Smirnov YuV, Ushkaryov YuA, Monastyrskaya GS, Broude NE, Modyanov NN: Family of human Na+,K+-ATPase genes. Structure of the putative regulatory region of the alpha+-gene. FEBS Lett. 1989 Feb 27;244(2):481-3. [PubMed
]
- Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. Epub 2008 Jul 31. [PubMed
]
- Vanmolkot KR, Kors EE, Hottenga JJ, Terwindt GM, Haan J, Hoefnagels WA, Black DF, Sandkuijl LA, Frants RR, Ferrari MD, van den Maagdenberg AM: Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. Ann Neurol. 2003 Sep;54(3):360-6. [PubMed
]
- De Fusco M, Marconi R, Silvestri L, Atorino L, Rampoldi L, Morgante L, Ballabio A, Aridon P, Casari G: Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. Nat Genet. 2003 Feb;33(2):192-6. Epub 2003 Jan 21. [PubMed
]
- Swoboda KJ, Kanavakis E, Xaidara A, Johnson JE, Leppert MF, Schlesinger-Massart MB, Ptacek LJ, Silver K, Youroukos S: Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation. Ann Neurol. 2004 Jun;55(6):884-7. [PubMed
]
|
| Enzyme 11 Metabolite References |
Not Available |
|
Enzyme 12
[top]
|
| Enzyme 12 ID |
6935 |
| Enzyme 12 Name |
Solute carrier family 22 member 5 |
| Enzyme 12 Synonyms |
- High-affinity sodium-dependent carnitine cotransporter
- Organic cation/carnitine transporter 2
|
| Enzyme 12 Gene Name |
SLC22A5 |
| Enzyme 12 Protein Sequence |
>Solute carrier family 22 member 5
MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSS
AWRNHTVPLRLRDGREVPHSCRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFS
QDVYLSTIVTEWNLVCEDDWKAPLTISLFFVGVLLGSFISGQLSDRFGRKNVLFVTMGMQ
TGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFVLGTEILGKSVRIIFSTLGVCIFYA
FGYMVLPLFAYFIRDWRMLLVALTMPGVLCVALWWFIPESPRWLISQGRFEEAEVIIRKA
AKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLRTWNIRMVTIMSIMLWMTISVGYFG
LSLDTPNLHGDIFVNCFLSAMVEVPAYVLAWLLLQYLPRRYSMATALFLGGSVLLFMQLV
PPDLYYLATVLVMVGKFGVTAAFSMVYVYTAELYPTVVRNMGVGVSSTASRLGSILSPYF
VYLGAYDRFLPYILMGSLTILTAILTLFLPESFGTPLPDTIDQMLRVKGMKHRKTPSHTR
MLKDGQERPTILKSTAF
|
| Enzyme 12 Number of Residues |
557 |
| Enzyme 12 Molecular Weight |
62751.1 |
| Enzyme 12 Theoretical pI |
8.04 |
| Enzyme 12 GO Classification |
| Function |
- ion transmembrane transporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- ion transport
- transmembrane transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 12 General Function |
Involved in ion transmembrane transporter activity |
| Enzyme 12 Specific Function |
Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is 11.3 |
| Enzyme 12 Pathways |
Not Available |
| Enzyme 12 Reactions |
Not Available |
| Enzyme 12 Pfam Domain Function |
|
| Enzyme 12 Signals |
|
| Enzyme 12 Transmembrane Regions |
- 21-41
143-163
173-193
198-218
233-253
258-278
342-362
374-394
407-427
431-451
463-483
489-509
|
| Enzyme 12 Essentiality |
Not Available |
| Enzyme 12 GenBank ID Protein |
Not Available |
| Enzyme 12 UniProtKB/Swiss-Prot ID |
O76082  |
| Enzyme 12 UniProtKB/Swiss-Prot Entry Name |
S22A5_HUMAN  |
| Enzyme 12 PDB ID |
Not Available |
| Enzyme 12 Cellular Location |
Not Available |
| Enzyme 12 Gene Sequence |
>1674 bp
ATGCGGGACTACGACGAGGTGACCGCCTTCCTGGGCGAGTGGGGGCCCTTCCAGCGCCTC
ATCTTCTTCCTGCTCAGCGCCAGCATCATCCCCAATGGCTTCACCGGCCTGTCCTCCGTG
TTCCTGATAGCGACCCCGGAGCACCGCTGCCGGGTGCCGGACGCCGCGAACCTGAGCAGC
GCCTGGCGCAACCACACTGTCCCACTGCGGCTGCGGGACGGCCGCGAGGTGCCCCACAGC
TGCCGCCGCTACCGGCTCGCCACCATCGCCAACTTCTCGGCGCTCGGGCTGGAGCCGGGG
CGCGACGTGGACCTGGGGCAGCTGGAGCAGGAGAGCTGTCTGGATGGCTGGGAGTTCAGT
CAGGACGTCTACCTGTCCACCATTGTGACCGAGTGGAACCTGGTGTGTGAGGACGACTGG
AAGGCCCCACTCACAATCTCCTTGTTCTTCGTGGGTGTGCTGTTGGGCTCCTTCATTTCA
GGGCAGCTGTCAGACAGGTTTGGCCGGAAGAATGTGCTGTTCGTGACCATGGGCATGCAG
ACAGGCTTCAGCTTCCTGCAGATCTTCTCGAAGAATTTTGAGATGTTTGTCGTGCTGTTT
GTCCTTGTAGGCATGGGCCAGATCTCCAACTATGTGGCAGCATTTGTCCTGGGGACAGAA
ATTCTTGGCAAGTCAGTTCGTATAATATTCTCTACGTTAGGAGTGTGCATATTTTATGCA
TTTGGCTACATGGTGCTGCCACTGTTTGCTTACTTCATCCGAGACTGGCGGATGCTGCTG
GTGGCGCTGACGATGCCGGGGGTGCTGTGCGTGGCACTCTGGTGGTTCATCCCTGAGTCC
CCCCGATGGCTCATCTCTCAGGGACGATTTGAAGAGGCAGAGGTGATCATCCGCAAGGCT
GCCAAAGCCAATGGGATTGTTGTGCCTTCCACTATCTTTGACCCGAGTGAGTTACAAGAC
CTAAGTTCCAAGAAGCAACAGTCCCACAACATTCTGGATCTGCTTCGAACCTGGAATATC
CGGATGGTCACCATCATGTCCATAATGCTGTGGATGACCATATCAGTGGGCTATTTTGGG
CTTTCGCTTGATACTCCTAACTTGCATGGGGACATCTTTGTGAACTGCTTCCTTTCAGCG
ATGGTTGAAGTCCCAGCATATGTGTTGGCCTGGCTGCTGCTGCAATATTTGCCCCGGCGC
TATTCCATGGCCACTGCCCTCTTCCTGGGTGGCAGTGTCCTTCTCTTCATGCAGCTGGTA
CCCCCAGACTTGTATTATTTGGCTACAGTCCTGGTGATGGTGGGCAAGTTTGGAGTCACG
GCTGCCTTTTCCATGGTCTACGTGTACACAGCCGAGCTGTATCCCACAGTGGTGAGAAAC
ATGGGTGTGGGAGTCAGCTCCACAGCATCCCGCCTGGGCAGCATCCTGTCTCCCTACTTC
GTTTACCTTGGTGCCTACGACCGCTTCCTGCCCTACATTCTCATGGGAAGTCTGACCATC
CTGACAGCCATCCTCACCTTGTTTCTCCCAGAGAGCTTCGGTACCCCACTCCCAGACACC
ATTGACCAGATGCTAAGAGTCAAAGGAATGAAACACAGAAAAACTCCAAGTCACACAAGG
ATGTTAAAAGATGGTCAAGAAAGGCCCACAATCCTTAAAAGCACAGCCTTCTAA
|
| Enzyme 12 GenBank Gene ID |
AF057164  |
| Enzyme 12 GeneCard ID |
SLC22A5  |
| Enzyme 12 GenAtlas ID |
SLC22A5  |
| Enzyme 12 HGNC ID |
HGNC:10969  |
| Enzyme 12 Chromosome Location |
5 |
| Enzyme 12 Locus |
5q31 |
| Enzyme 12 SNPs |
SNPJam Report  |
| Enzyme 12 General References |
- Wu X, Prasad PD, Leibach FH, Ganapathy V: cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family. Biochem Biophys Res Commun. 1998 May 29;246(3):589-95. [PubMed
]
- Tamai I, Ohashi R, Nezu J, Yabuuchi H, Oku A, Shimane M, Sai Y, Tsuji A: Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2. J Biol Chem. 1998 Aug 7;273(32):20378-82. [PubMed
]
- Nezu J, Tamai I, Oku A, Ohashi R, Yabuuchi H, Hashimoto N, Nikaido H, Sai Y, Koizumi A, Shoji Y, Takada G, Matsuishi T, Yoshino M, Kato H, Ohura T, Tsujimoto G, Hayakawa J, Shimane M, Tsuji A: Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. Nat Genet. 1999 Jan;21(1):91-4. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Wu X, Huang W, Prasad PD, Seth P, Rajan DP, Leibach FH, Chen J, Conway SJ, Ganapathy V: Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter. J Pharmacol Exp Ther. 1999 Sep;290(3):1482-92. [PubMed
]
- Wollscheid B, Bausch-Fluck D, Henderson C, O'Brien R, Bibel M, Schiess R, Aebersold R, Watts JD: Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins. Nat Biotechnol. 2009 Apr;27(4):378-86. Epub 2009 Apr 6. [PubMed
]
- Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. Sci Signal. 2009 Aug 18;2(84):ra46. [PubMed
]
- Burwinkel B, Kreuder J, Schweitzer S, Vorgerd M, Gempel K, Gerbitz KD, Kilimann MW: Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality. Biochem Biophys Res Commun. 1999 Aug 2;261(2):484-7. [PubMed
]
- Vaz FM, Scholte HR, Ruiter J, Hussaarts-Odijk LM, Pereira RR, Schweitzer S, de Klerk JB, Waterham HR, Wanders RJ: Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency. Hum Genet. 1999 Jul-Aug;105(1-2):157-61. [PubMed
]
- Tang NL, Ganapathy V, Wu X, Hui J, Seth P, Yuen PM, Wanders RJ, Fok TF, Hjelm NM: Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency. Hum Mol Genet. 1999 Apr;8(4):655-60. [PubMed
]
- Koizumi A, Nozaki J, Ohura T, Kayo T, Wada Y, Nezu J, Ohashi R, Tamai I, Shoji Y, Takada G, Kibira S, Matsuishi T, Tsuji A: Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency. Hum Mol Genet. 1999 Nov;8(12):2247-54. [PubMed
]
- Seth P, Wu X, Huang W, Leibach FH, Ganapathy V: Mutations in novel organic cation transporter (OCTN2), an organic cation/carnitine transporter, with differential effects on the organic cation transport function and the carnitine transport function. J Biol Chem. 1999 Nov 19;274(47):33388-92. [PubMed
]
- Mayatepek E, Nezu J, Tamai I, Oku A, Katsura M, Shimane M, Tsuji A: Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency. Hum Mutat. 2000 Jan;15(1):118. [PubMed
]
- Wang Y, Kelly MA, Cowan TM, Longo N: A missense mutation in the OCTN2 gene associated with residual carnitine transport activity. Hum Mutat. 2000;15(3):238-45. [PubMed
]
- Urban TJ, Gallagher RC, Brown C, Castro RA, Lagpacan LL, Brett CM, Taylor TR, Carlson EJ, Ferrin TE, Burchard EG, Packman S, Giacomini KM: Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5). Mol Pharmacol. 2006 Nov;70(5):1602-11. Epub 2006 Aug 24. [PubMed
]
|
| Enzyme 12 Metabolite References |
Not Available |
|
Enzyme 13
[top]
|
| Enzyme 13 ID |
7119 |
| Enzyme 13 Name |
Beta-1-syntrophin |
| Enzyme 13 Synonyms |
- 59 kDa dystrophin-associated protein A1 basic component 1
- DAPA1B
- BSYN2
- Syntrophin-2
- Tax interaction protein 43
- TIP-43
|
| Enzyme 13 Gene Name |
SNTB1 |
| Enzyme 13 Protein Sequence |
>Beta-1-syntrophin
MAVAAAAAAAGPAGAGGGRAQRSGLLEVLVRDRWHKVLVNLSEDALVLSSEEGAAAYNGI
GTATNGSFCRGAGAGHPGAGGAQPPDSPAGVRTAFTDLPEQVPESISNQKRGVKVLKQEL
GGLGISIKGGKENKMPILISKIFKGLAADQTQALYVGDAILSVNGADLRDATHDEAVQAL
KRAGKEVLLEVKYMREATPYVKKGSPVSEIGWETPPPESPRLGGSTSDPPSSQSFSFHRD
RKSIPLKMCYVTRSMALADPENRQLEIHSPDAKHTVILRSKDSATAQAWFSAIHSNVNDL
LTRVIAEVREQLGKTGIAGSREIRHLGWLAEKVPGESKKQWKPALVVLTEKDLLIYDSMP
RRKEAWFSPVHTYPLLATRLVHSGPGKGSPQAGVDLSFATRTGTRQGIETHLFRAETSRD
LSHWTRSIVQGCHNSAELIAEISTACTYKNQECRLTIHYENGFSITTEPQEGAFPKTIIQ
SPYEKLKMSSDDGIRMLYLDFGGKDGEIQLDLHSCPKPIVFIIHSFLSAKITRLGLVA
|
| Enzyme 13 Number of Residues |
538 |
| Enzyme 13 Molecular Weight |
58060.6 |
| Enzyme 13 Theoretical pI |
8.91 |
| Enzyme 13 GO Classification |
| Function |
|
| Process |
| — |
| Component |
| — |
|
| Enzyme 13 General Function |
Involved in actin binding |
| Enzyme 13 Specific Function |
Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex |
| Enzyme 13 Pathways |
Not Available |
| Enzyme 13 Reactions |
Not Available |
| Enzyme 13 Pfam Domain Function |
|
| Enzyme 13 Signals |
|
| Enzyme 13 Transmembrane Regions |
|
| Enzyme 13 Essentiality |
Not Available |
| Enzyme 13 GenBank ID Protein |
11321640  |
| Enzyme 13 UniProtKB/Swiss-Prot ID |
Q13884  |
| Enzyme 13 UniProtKB/Swiss-Prot Entry Name |
SNTB1_HUMAN  |
| Enzyme 13 PDB ID |
Not Available |
| Enzyme 13 Cellular Location |
Not Available |
| Enzyme 13 Gene Sequence |
>1617 bp
ATGGCGGTAGCGGCGGCGGCGGCGGCGGCTGGGCCGGCTGGCGCGGGAGGCGGCCGGGCG
CAGCGGAGCGGGCTGCTGGAAGTTTTGGTGCGGGATCGCTGGCACAAAGTTCTGGTGAAC
TTGAGCGAGGACGCCCTGGTTCTGAGCAGCGAGGAGGGCGCTGCGGCGTACAACGGCATC
GGGACCGCCACCAATGGCTCGTTCTGCAGGGGCGCCGGGGCTGGGCACCCGGGCGCGGGC
GGCGCGCAGCCCCCGGACTCGCCCGCCGGGGTCCGCACCGCTTTCACCGACCTGCCCGAG
CAGGTGCCCGAGTCCATCTCGAACCAGAAGCGTGGCGTGAAGGTGCTGAAGCAGGAGCTG
GGCGGGCTGGGGATCAGCATCAAGGGGGGCAAGGAGAACAAGATGCCCATCCTCATCAGC
AAGATCTTCAAGGGGCTGGCGGCGGACCAGACCCAAGCCCTGTACGTGGGCGACGCCATC
CTGTCCGTGAACGGAGCCGACCTGCGGGACGCCACCCACGACGAGGCGGTGCAGGCGTTG
AAGCGCGCGGGCAAGGAAGTGCTGCTGGAAGTGAAGTACATGCGAGAAGCCACGCCCTAT
GTGAAGAAAGGATCCCCAGTATCCGAGATTGGGTGGGAAACACCTCCGCCTGAATCCCCT
CGGTTAGGGGGCAGCACCTCAGACCCCCCGTCATCGCAGTCCTTCTCCTTCCACAGAGAC
CGGAAAAGCATCCCCCTCAAAATGTGCTACGTCACTCGGAGTATGGCCTTGGCCGACCCT
GAGAACAGGCAGCTTGAAATCCACTCTCCAGATGCTAAGCACACGGTGATCCTAAGGAGC
AAGGACTCAGCCACGGCCCAGGCATGGTTCAGTGCCATCCATTCCAACGTTAATGACCTG
CTGACCCGAGTGATTGCTGAGGTCAGAGAGCAGCTGGGGAAAACAGGCATTGCTGGGAGC
CGAGAGATTAGGCATCTTGGCTGGCTTGCAGAAAAGGTGCCAGGGGAGAGCAAGAAACAG
TGGAAACCAGCCCTGGTTGTGCTGACTGAGAAAGACCTTTTAATCTATGACAGCATGCCA
CGGAGGAAGGAAGCCTGGTTCAGCCCAGTTCACACATACCCTCTTCTTGCCACCAGGCTG
GTCCATTCAGGTCCAGGAAAGGGATCACCCCAGGCTGGTGTGGATCTGTCCTTTGCAACG
CGAACTGGTACCAGGCAAGGGATTGAAACACATCTCTTCAGAGCAGAGACCAGCAGGGAC
CTCTCCCACTGGACAAGGAGCATAGTACAGGGTTGCCACAATTCTGCTGAACTCATTGCT
GAAATCAGCACTGCTTGCACCTACAAAAACCAGGAGTGCCGTTTGACCATACATTATGAG
AATGGATTTTCTATTACCACTGAACCACAGGAGGGTGCCTTTCCCAAGACCATCATACAG
TCTCCTTATGAAAAGCTCAAAATGTCTTCAGATGATGGAATCAGGATGCTGTATTTAGAT
TTTGGAGGCAAAGATGGAGAGATTCAACTGGACCTTCATTCCTGCCCCAAGCCAATTGTT
TTCATCATTCATTCCTTCCTGTCAGCTAAGATTACAAGACTGGGCTTGGTGGCCTGA
|
| Enzyme 13 GenBank Gene ID |
NM_021021.3  |
| Enzyme 13 GeneCard ID |
SNTB1  |
| Enzyme 13 GenAtlas ID |
Not Available |
| Enzyme 13 HGNC ID |
Not Available |
| Enzyme 13 Chromosome Location |
8 |
| Enzyme 13 Locus |
8q23-q24 |
| Enzyme 13 SNPs |
SNPJam Report  |
| Enzyme 13 General References |
- Ahn AH, Yoshida M, Anderson MS, Feener CA, Selig S, Hagiwara Y, Ozawa E, Kunkel LM: Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24. Proc Natl Acad Sci U S A. 1994 May 10;91(10):4446-50. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J: Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. Nat Biotechnol. 2003 May;21(5):566-9. Epub 2003 Mar 31. [PubMed
]
- Rousset R, Fabre S, Desbois C, Bantignies F, Jalinot P: The C-terminus of the HTLV-1 Tax oncoprotein mediates interaction with the PDZ domain of cellular proteins. Oncogene. 1998 Feb 5;16(5):643-54. [PubMed
]
- Ahn AH, Kunkel LM: Syntrophin binds to an alternatively spliced exon of dystrophin. J Cell Biol. 1995 Feb;128(3):363-71. [PubMed
]
- Zahedi RP, Lewandrowski U, Wiesner J, Wortelkamp S, Moebius J, Schutz C, Walter U, Gambaryan S, Sickmann A: Phosphoproteome of resting human platelets. J Proteome Res. 2008 Feb;7(2):526-34. Epub 2007 Dec 19. [PubMed
]
- Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. Sci Signal. 2009 Aug 18;2(84):ra46. [PubMed
]
|
| Enzyme 13 Metabolite References |
Not Available |
|
Enzyme 14
[top]
|
| Enzyme 14 ID |
7166 |
| Enzyme 14 Name |
Phosphate-regulating neutral endopeptidase |
| Enzyme 14 Synonyms |
- Metalloendopeptidase homolog PEX
- Vitamin D-resistant hypophosphatemic rickets protein
- X-linked hypophosphatemia protein
- HYP
|
| Enzyme 14 Gene Name |
PHEX |
| Enzyme 14 Protein Sequence |
>Phosphate-regulating neutral endopeptidase
MEAETGSSVETGKKANRGTRIALVVFVGGTLVLGTILFLVSQGLLSLQAKQEYCLKPECI
EAAAAILSKVNLSVDPCDNFFRFACDGWISNNPIPEDMPSYGVYPWLRHNVDLKLKELLE
KSISRRRDTEAIQKAKILYSSCMNEKAIEKADAKPLLHILRHSPFRWPVLESNIGPEGVW
SERKFSLLQTLATFRGQYSNSVFIRLYVSPDDKASNEHILKLDQATLSLAVREDYLDNST
EAKSYRDALYKFMVDTAVLLGANSSRAEHDMKSVLRLEIKIAEIMIPHENRTSEAMYNKM
NISELSAMIPQFDWLGYIKKVIDTRLYPHLKDISPSENVVVRVPQYFKDLFRILGSERKK
TIANYLVWRMVYSRIPNLSRRFQYRWLEFSRVIQGTTTLLPQWDKCVNFIESALPYVVGK
MFVDVYFQEDKKEMMEELVEGVRWAFIDMLEKENEWMDAGTKRKAKEKARAVLAKVGYPE
FIMNDTHVNEDLKAIKFSEADYFGNVLQTRKYLAQSDFFWLRKAVPKTEWFTNPTTVNAF
YSASTNQIRFPAGELQKPFFWGTEYPRSLSYGAIGVIVGHEFTHGFDNNGRKYDKNGNLD
PWWSTESEEKFKEKTKCMINQYSNYYWKKAGLNVKGKRTLGENIADNGGLREAFRAYRKW
INDRRQGLEEPLLPGITFTNNQLFFLSYAHVRCNSYRPEAAREQVQIGAHSPPQFRVNGA
ISNFEEFQKAFNCPPNSTMNRGMDSCRLW
|
| Enzyme 14 Number of Residues |
749 |
| Enzyme 14 Molecular Weight |
86473.2 |
| Enzyme 14 Theoretical pI |
9.05 |
| Enzyme 14 GO Classification |
| Function |
- catalytic activity
- endopeptidase activity
- hydrolase activity
- metalloendopeptidase activity
- metallopeptidase activity
- peptidase activity
- peptidase activity, acting on L-amino acid peptides
|
| Process |
- macromolecule metabolic process
- metabolic process
- protein metabolic process
- proteolysis
|
| Component |
| — |
|
| Enzyme 14 General Function |
Involved in metalloendopeptidase activity |
| Enzyme 14 Specific Function |
Probably involved in bone and dentin mineralization and renal phosphate reabsorption |
| Enzyme 14 Pathways |
Not Available |
| Enzyme 14 Reactions |
Not Available |
| Enzyme 14 Pfam Domain Function |
|
| Enzyme 14 Signals |
|
| Enzyme 14 Transmembrane Regions |
|
| Enzyme 14 Essentiality |
Not Available |
| Enzyme 14 GenBank ID Protein |
Not Available |
| Enzyme 14 UniProtKB/Swiss-Prot ID |
P78562  |
| Enzyme 14 UniProtKB/Swiss-Prot Entry Name |
PHEX_HUMAN  |
| Enzyme 14 PDB ID |
Not Available |
| Enzyme 14 Cellular Location |
Not Available |
| Enzyme 14 Gene Sequence |
>2250 bp
ATGGAAGCAGAAACAGGGAGCAGCGTGGAGACTGGAAAGAAGGCCAACAGAGGCACTCGA
ATTGCCCTGGTCGTGTTTGTCGGTGGCACCCTAGTTCTGGGCACGATCCTCTTTCTAGTG
AGTCAAGGTCTCTTAAGTCTCCAAGCTAAACAGGAGTACTGCCTGAAGCCAGAATGCATC
GAAGCGGCTGCTGCCATCTTAAGTAAAGTAAATCTGTCTGTGGATCCTTGTGATAATTTC
TTCCGGTTCGCTTGTGATGGCTGGATAAGCAATAATCCAATTCCCGAAGATATGCCAAGC
TATGGGGTTTATCCTTGGCTGAGACATAATGTTGACCTCAAGTTGAAGGAACTTTTGGAG
AAATCAATCAGTAGAAGGCGGGACACCGAAGCCATACAGAAAGCCAAAATCCTTTATTCA
TCCTGCATGAATGAGAAAGCGATTGAAAAAGCAGATGCCAAGCCACTGCTACACATCCTA
CGGCATTCACCTTTCCGCTGGCCCGTGCTTGAATCTAATATTGGCCCTGAAGGGGTTTGG
TCAGAGAGAAAGTTCAGCCTTCTGCAGACACTTGCAACGTTTCGTGGTCAATACAGCAAT
TCTGTGTTCATCCGTTTGTATGTGTCCCCTGATGACAAAGCATCCAATGAACATATCTTG
AAGCTGGACCAAGCAACACTCTCCCTGGCCGTGAGGGAAGACTACCTTGATAACAGTACA
GAAGCCAAGTCTTATCGGGATGCCCTTTACAAGTTCATGGTGGATACTGCCGTGCTTTTA
GGAGCTAACAGTTCCAGAGCAGAGCATGACATGAAGTCAGTGCTCAGATTGGAAATTAAG
ATAGCTGAGATAATGATTCCACATGAAAACCGAACCAGCGAGGCCATGTACAACAAAATG
AACATTTCTGAACTGAGTGCTATGATTCCCCAGTTCGACTGGCTGGGCTACATCAAGAAG
GTCATTGACACCAGACTCTACCCCCATCTGAAAGACATCAGCCCCTCCGAGAATGTGGTG
GTCCGCGTCCCGCAGTACTTTAAAGATTTGTTTAGGATATTAGGGTCTGAGAGAAAGAAG
ACCATTGCCAACTATTTGGTGTGGAGAATGGTTTATTCCAGAATTCCAAACCTTAGCAGG
CGCTTTCAGTATAGATGGCTGGAATTCTCAAGGGTAATCCAGGGGACCACAACTTTGCTG
CCTCAATGGGACAAATGTGTAAACTTTATTGAAAGTGCCCTCCCTTATGTTGTTGGAAAG
ATGTTTGTAGATGTGTACTTCCAGGAAGATAAGAAGGAAATGATGGAGGAATTGGTTGAG
GGCGTTCGCTGGGCCTTTATTGACATGCTAGAGAAAGAAAATGAGTGGATGGATGCAGGA
ACGAAAAGGAAAGCCAAAGAAAAGGCGAGAGCTGTTTTGGCAAAAGTTGGCTATCCAGAG
TTTATAATGAATGATACTCATGTTAATGAAGACCTCAAAGCTATCAAGTTTTCAGAAGCC
GACTACTTTGGCAACGTCCTACAAACTCGCAAGTATTTAGCACAGTCTGATTTCTTCTGG
CTAAGAAAAGCCGTTCCAAAAACAGAGTGGTTTACAAATCCGACGACTGTCAATGCCTTC
TACAGTGCATCCACCAACCAGATCCGATTTCCAGCAGGAGAGCTCCAGAAGCCTTTCTTT
TGGGGAACAGAATATCCTCGATCTCTGAGTTATGGTGCTATAGGAGTAATTGTCGGACAT
GAATTTACACATGGATTTGATAATAATGGTAGAAAATATGATAAAAATGGAAACCTGGAT
CCTTGGTGGTCTACTGAATCAGAAGAAAAGTTTAAGGAAAAAACAAAATGCATGATTAAC
CAGTATAGCAACTATTATTGGAAGAAAGCTGGCTTAAATGTCAAGGGGAAGAGGACCCTG
GGAGAAAATATTGCTGATAATGGAGGCCTGCGGGAAGCTTTTAGGGCTTACAGGAAATGG
ATAAATGACAGAAGGCAGGGACTTGAGGAGCCTCTTCTACCAGGCATCACATTCACCAAC
AACCAGCTCTTCTTCCTGAGTTATGCTCATGTGAGGTGCAATTCCTACAGACCAGAAGCT
GCCCGAGAACAAGTCCAAATTGGTGCTCACAGTCCCCCTCAGTTTAGGGTCAATGGTGCA
ATTAGTAACTTTGAAGAATTCCAGAAAGCTTTTAACTGTCCACCCAATTCCACGATGAAC
AGAGGCATGGACTCCTGCCGACTCTGGTAG
|
| Enzyme 14 GenBank Gene ID |
U75645  |
| Enzyme 14 GeneCard ID |
PHEX  |
| Enzyme 14 GenAtlas ID |
PHEX  |
| Enzyme 14 HGNC ID |
HGNC:8918  |
| Enzyme 14 Chromosome Location |
Not Available |
| Enzyme 14 Locus |
Not Available |
| Enzyme 14 SNPs |
SNPJam Report  |
| Enzyme 14 General References |
- Francis F, Strom TM, Hennig S, Boddrich A, Lorenz B, Brandau O, Mohnike KL, Cagnoli M, Steffens C, Klages S, Borzym K, Pohl T, Oudet C, Econs MJ, Rowe PS, Reinhardt R, Meitinger T, Lehrach H: Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets. Genome Res. 1997 Jun;7(6):573-85. [PubMed
]
- Beck L, Soumounou Y, Martel J, Krishnamurthy G, Gauthier C, Goodyer CG, Tenenhouse HS: Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic mice. J Clin Invest. 1997 Mar 15;99(6):1200-9. [PubMed
]
- Guo R, Quarles LD: Cloning and sequencing of human PEX from a bone cDNA library: evidence for its developmental stage-specific regulation in osteoblasts. J Bone Miner Res. 1997 Jul;12(7):1009-17. [PubMed
]
- Grieff M, Mumm S, Waeltz P, Mazzarella R, Whyte MP, Thakker RV, Schlessinger D: Expression and cloning of the human X-linked hypophosphatemia gene cDNA. Biochem Biophys Res Commun. 1997 Feb 24;231(3):635-9. [PubMed
]
- Holm IA, Huang X, Kunkel LM: Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. Am J Hum Genet. 1997 Apr;60(4):790-7. [PubMed
]
- Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T, Gibbs RA, Beck S, Rogers J, Bentley DR: The DNA sequence of the human X chromosome. Nature. 2005 Mar 17;434(7031):325-37. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium. Nat Genet. 1995 Oct;11(2):130-6. [PubMed
]
- Rowe PS, Oudet CL, Francis F, Sinding C, Pannetier S, Econs MJ, Strom TM, Meitinger T, Garabedian M, David A, Macher MA, Questiaux E, Popowska E, Pronicka E, Read AP, Mokrzycki A, Glorieux FH, Drezner MK, Hanauer A, Lehrach H, Goulding JN, O'Riordan JL: Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP). Hum Mol Genet. 1997 Apr;6(4):539-49. [PubMed
]
- Econs MJ, Friedman NE, Rowe PS, Speer MC, Francis F, Strom TM, Oudet C, Smith JA, Ninomiya JT, Lee BE, Bergen H: A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets. J Clin Endocrinol Metab. 1998 Oct;83(10):3459-62. [PubMed
]
- Dixon PH, Christie PT, Wooding C, Trump D, Grieff M, Holm I, Gertner JM, Schmidtke J, Shah B, Shaw N, Smith C, Tau C, Schlessinger D, Whyte MP, Thakker RV: Mutational analysis of PHEX gene in X-linked hypophosphatemia. J Clin Endocrinol Metab. 1998 Oct;83(10):3615-23. [PubMed
]
- Filisetti D, Ostermann G, von Bredow M, Strom T, Filler G, Ehrich J, Pannetier S, Garnier JM, Rowe P, Francis F, Julienne A, Hanauer A, Econs MJ, Oudet C: Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues. Eur J Hum Genet. 1999 Jul;7(5):615-9. [PubMed
]
- Tyynismaa H, Kaitila I, Nanto-Salonen K, Ala-Houhala M, Alitalo T: Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. Hum Mutat. 2000 Apr;15(4):383-4. [PubMed
]
- Sato K, Tajima T, Nakae J, Adachi M, Asakura Y, Tachibana K, Suwa S, Katsumata N, Tanaka T, Hayashi Y, Abe S, Murashita M, Okuhara K, Shinohara N, Fujieda K: Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. Pediatr Res. 2000 Oct;48(4):536-40. [PubMed
]
|
| Enzyme 14 Metabolite References |
Not Available |
|
Enzyme 15
[top]
|
| Enzyme 15 ID |
7172 |
| Enzyme 15 Name |
Neutral and basic amino acid transport protein rBAT |
| Enzyme 15 Synonyms |
- NBAT
- B(0,+)-type amino acid transport protein
- D2h
|
| Enzyme 15 Gene Name |
SLC3A1 |
| Enzyme 15 Protein Sequence |
>Neutral and basic amino acid transport protein rBAT
MAEDKSKRDSIEMSMKGCQTNNGFVHNEDILEQTPDPGSSTDNLKHSTRGILGSQEPDFK
GVQPYAGMPKEVLFQFSGQARYRIPREILFWLTVASVLVLIAATIAIIALSPKCLDWWQE
GPMYQIYPRSFKDSNKDGNGDLKGIQDKLDYITALNIKTVWITSFYKSSLKDFRYGVEDF
REVDPIFGTMEDFENLVAAIHDKGLKLIIDFIPNHTSDKHIWFQLSRTRTGKYTDYYIWH
DCTHENGKTIPPNNWLSVYGNSSWHFDEVRNQCYFHQFMKEQPDLNFRNPDVQEEIKEIL
RFWLTKGVDGFSLDAVKFLLEAKHLRDEIQVNKTQIPDTVTQYSELYHDFTTTQVGMHDI
VRSFRQTMDQYSTEPGRYRFMGTEAYAESIDRTVMYYGLPFIQEADFPFNNYLSMLDTVS
GNSVYEVITSWMENMPEGKWPNWMIGGPDSSRLTSRLGNQYVNVMNMLLFTLPGTPITYY
GEEIGMGNIVAANLNESYDINTLRSKSPMQWDNSSNAGFSEASNTWLPTNSDYHTVNVDV
QKTQPRSALKLYQDLSLLHANELLLNRGWFCHLRNDSHYVVYTRELDGIDRIFIVVLNFG
ESTLLNLHNMISGLPAKMRIRLSTNSADKGSKVDTSGIFLDKGEGLIFEHNTKNLLHRQT
AFRDRCFVSNRACYSSVLNILYTSC
|
| Enzyme 15 Number of Residues |
685 |
| Enzyme 15 Molecular Weight |
78851.4 |
| Enzyme 15 Theoretical pI |
5.81 |
| Enzyme 15 GO Classification |
| Function |
- binding
- catalytic activity
- cation binding
- ion binding
|
| Process |
- carbohydrate metabolic process
- metabolic process
- primary metabolic process
|
| Component |
| — |
|
| Enzyme 15 General Function |
Involved in catalytic activity |
| Enzyme 15 Specific Function |
Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system B(0,+)-like activity). May function as an activator of SLC7A9 and be involved in the high-affinity reabsorption of cystine in the kidney tubule |
| Enzyme 15 Pathways |
Not Available |
| Enzyme 15 Reactions |
Not Available |
| Enzyme 15 Pfam Domain Function |
|
| Enzyme 15 Signals |
|
| Enzyme 15 Transmembrane Regions |
|
| Enzyme 15 Essentiality |
Not Available |
| Enzyme 15 GenBank ID Protein |
10863046  |
| Enzyme 15 UniProtKB/Swiss-Prot ID |
Q07837  |
| Enzyme 15 UniProtKB/Swiss-Prot Entry Name |
SLC31_HUMAN  |
| Enzyme 15 PDB ID |
Not Available |
| Enzyme 15 Cellular Location |
Not Available |
| Enzyme 15 Gene Sequence |
>2058 bp
ATGGCTGAAGATAAAAGCAAGAGAGACTCCATCGAGATGAGTATGAAGGGATGCCAGACA
AACAACGGGTTTGTCCATAATGAAGACATTCTGGAGCAGACCCCGGATCCAGGCAGCTCA
ACAGACAACCTGAAGCACAGCACCAGGGGCATCCTTGGCTCCCAGGAGCCCGACTTCAAG
GGCGTCCAGCCCTATGCGGGGATGCCCAAGGAGGTGCTGTTCCAGTTCTCTGGCCAGGCC
CGCTACCGCATACCTCGGGAGATCCTCTTCTGGCTCACAGTGGCTTCTGTGCTGGTGCTC
ATCGCGGCCACCATAGCCATCATTGCCCTCTCTCCAAAGTGCCTAGACTGGTGGCAGGAG
GGGCCCATGTACCAGATCTACCCAAGGTCTTTCAAGGACAGTAACAAGGATGGGAACGGA
GATCTGAAAGGTATTCAAGATAAACTGGACTACATCACAGCTTTAAATATAAAAACTGTT
TGGATTACTTCATTTTATAAATCGTCCCTTAAAGATTTCAGATATGGTGTTGAAGATTTC
CGGGAAGTTGATCCCATTTTTGGAACGATGGAAGATTTTGAGAATCTGGTTGCAGCCATA
CATGATAAAGGTTTAAAATTAATCATCGATTTCATACCAAACCACACGAGTGATAAACAT
ATTTGGTTTCAATTGAGTCGGACACGGACAGGAAAATATACTGATTATTATATCTGGCAT
GACTGTACCCATGAAAATGGCAAAACCATTCCACCCAACAACTGGTTAAGTGTGTATGGA
AACTCCAGTTGGCACTTTGACGAAGTGCGAAACCAATGTTATTTTCATCAGTTTATGAAA
GAGCAACCTGATTTAAATTTCCGCAATCCTGATGTTCAAGAAGAAATAAAAGAAATTTTA
CGGTTCTGGCTCACAAAGGGTGTTGATGGTTTTAGTTTGGATGCTGTTAAATTCCTCCTA
GAAGCAAAGCACCTGAGAGATGAGATCCAAGTAAATAAGACCCAAATCCCGGACACGGTC
ACACAATACTCGGAGCTGTACCATGACTTCACCACCACGCAGGTGGGAATGCACGACATT
GTCCGCAGCTTCCGGCAGACCATGGACCAATACAGCACGGAGCCCGGCAGATACAGGTTC
ATGGGGACTGAAGCCTATGCAGAGAGTATTGACAGGACCGTGATGTACTATGGATTGCCA
TTTATCCAAGAAGCTGATTTTCCCTTCAACAATTACCTCAGCATGCTAGACACTGTTTCT
GGGAACAGCGTGTATGAGGTTATCACATCCTGGATGGAAAACATGCCAGAAGGAAAATGG
CCTAACTGGATGATTGGTGGACCAGACAGTTCACGGCTGACTTCGCGTTTGGGGAATCAG
TATGTCAACGTGATGAACATGCTTCTTTTCACACTCCCTGGAACTCCTATAACTTACTAT
GGAGAAGAAATTGGAATGGGAAATATTGTAGCCGCAAATCTCAATGAAAGCTATGATATT
AATACCCTTCGCTCAAAGTCACCAATGCAGTGGGACAATAGTTCAAATGCTGGTTTTTCT
GAAGCTAGTAACACCTGGTTACCTACCAATTCAGATTACCACACTGTGAATGTTGATGTC
CAAAAGACTCAGCCCAGATCGGCTTTGAAGTTATATCAAGATTTAAGTCTACTTCATGCC
AATGAGCTACTCCTCAACAGGGGCTGGTTTTGCCATTTGAGGAATGACAGCCACTATGTT
GTGTACACAAGAGAGCTGGATGGCATCGACAGAATCTTTATCGTGGTTCTGAATTTTGGA
GAATCAACACTGTTAAATCTACATAATATGATTTCGGGCCTTCCCGCTAAAATAAGAATA
AGGTTAAGTACCAATTCTGCCGACAAAGGCAGTAAAGTTGATACAAGTGGCATTTTTCTG
GACAAGGGAGAGGGACTCATCTTTGAACACAACACGAAGAATCTCCTTCATCGCCAAACA
GCTTTCAGAGATAGATGCTTTGTTTCCAATCGAGCATGCTATTCCAGTGTACTGAACATA
CTGTATACCTCGTGTTAG
|
| Enzyme 15 GenBank Gene ID |
AB033549  |
| Enzyme 15 GeneCard ID |
SLC3A1  |
| Enzyme 15 GenAtlas ID |
SLC3A1  |
| Enzyme 15 HGNC ID |
HGNC:11025  |
| Enzyme 15 Chromosome Location |
2 |
| Enzyme 15 Locus |
2p16.3 |
| Enzyme 15 SNPs |
SNPJam Report  |
| Enzyme 15 General References |
- Lee WS, Wells RG, Sabbag RV, Mohandas TK, Hediger MA: Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport. J Clin Invest. 1993 May;91(5):1959-63. [PubMed
]
- Bertran J, Werner A, Chillaron J, Nunes V, Biber J, Testar X, Zorzano A, Estivill X, Murer H, Palacin M: Expression cloning of a human renal cDNA that induces high affinity transport of L-cystine shared with dibasic amino acids in Xenopus oocytes. J Biol Chem. 1993 Jul 15;268(20):14842-9. [PubMed
]
- Miyamoto K, Segawa H, Tatsumi S, Katai K, Yamamoto H, Taketani Y, Haga H, Morita K, Takeda E: Effects of truncation of the COOH-terminal region of a Na+-independent neutral and basic amino acid transporter on amino acid transport in Xenopus oocytes. J Biol Chem. 1996 Jul 12;271(28):16758-63. [PubMed
]
- Endsley JK, Phillips JA 3rd, Hruska KA, Denneberg T, Carlson J, George AL Jr: Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria. Kidney Int. 1997 Jun;51(6):1893-9. [PubMed
]
- Mizoguchi K, Cha SH, Chairoungdua A, Kim DK, Shigeta Y, Matsuo H, Fukushima J, Awa Y, Akakura K, Goya T, Ito H, Endou H, Kanai Y: Human cystinuria-related transporter: localization and functional characterization. Kidney Int. 2001 May;59(5):1821-33. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK: Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434(7034):724-31. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Pfeiffer R, Loffing J, Rossier G, Bauch C, Meier C, Eggermann T, Loffing-Cueni D, Kuhn LC, Verrey F: Luminal heterodimeric amino acid transporter defective in cystinuria. Mol Biol Cell. 1999 Dec;10(12):4135-47. [PubMed
]
- Calonge MJ, Volpini V, Bisceglia L, Rousaud F, de Sanctis L, Beccia E, Zelante L, Testar X, Zorzano A, Estivill X, et al.: Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria. Proc Natl Acad Sci U S A. 1995 Oct 10;92(21):9667-71. [PubMed
]
- Jaeken J, Martens K, Francois I, Eyskens F, Lecointre C, Derua R, Meulemans S, Slootstra JW, Waelkens E, de Zegher F, Creemers JW, Matthijs G: Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome. Am J Hum Genet. 2006 Jan;78(1):38-51. Epub 2005 Nov 23. [PubMed
]
- Calonge MJ, Gasparini P, Chillaron J, Chillon M, Gallucci M, Rousaud F, Zelante L, Testar X, Dallapiccola B, Di Silverio F, et al.: Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nat Genet. 1994 Apr;6(4):420-5. [PubMed
]
- Pras E, Raben N, Golomb E, Arber N, Aksentijevich I, Schapiro JM, Harel D, Katz G, Liberman U, Pras M, et al.: Mutations in the SLC3A1 transporter gene in cystinuria. Am J Hum Genet. 1995 Jun;56(6):1297-303. [PubMed
]
- Gasparini P, Calonge MJ, Bisceglia L, Purroy J, Dianzani I, Notarangelo A, Rousaud F, Gallucci M, Testar X, Ponzone A, et al.: Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity. Am J Hum Genet. 1995 Oct;57(4):781-8. [PubMed
]
- Miyamoto K, Katai K, Tatsumi S, Sone K, Segawa H, Yamamoto H, Taketani Y, Takada K, Morita K, Kanayama H, et al.: Mutations of the basic amino acid transporter gene associated with cystinuria. Biochem J. 1995 Sep 15;310 ( Pt 3):951-5. [PubMed
]
- Harnevik L, Fjellstedt E, Molbaek A, Tiselius HG, Denneberg T, Soderkvist P: Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients. Hum Mutat. 2001 Dec;18(6):516-25. [PubMed
]
- Botzenhart E, Vester U, Schmidt C, Hesse A, Halber M, Wagner C, Lang F, Hoyer P, Zerres K, Eggermann T: Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes. Kidney Int. 2002 Oct;62(4):1136-42. [PubMed
]
|
| Enzyme 15 Metabolite References |
Not Available |
|
Enzyme 16
[top]
|
| Enzyme 16 ID |
7176 |
| Enzyme 16 Name |
B(0,+)-type amino acid transporter 1 |
| Enzyme 16 Synonyms |
- B(0,+)AT
- Glycoprotein-associated amino acid transporter b0,+AT1
- Solute carrier family 7 member 9
|
| Enzyme 16 Gene Name |
SLC7A9 |
| Enzyme 16 Protein Sequence |
>B(0,+)-type amino acid transporter 1
MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNTE
AVGPCLIIWAACGVLATLGALCFAELGTMITKSGGEYPYLMEAYGPIPAYLFSWASLIVI
KPTSFAIICLSFSEYVCAPFYVGCKPPQIVVKCLAAAAILFISTVNSLSVRLGSYVQNIF
TAAKLVIVAIIIISGLVLLAQGNTKNFDNSFEGAQLSVGAISLAFYNGLWAYDGWNQLNY
ITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYP
ASWIVPLFVAFSTIGAANGTCFTAGRLIYVAGREGHMLKVLSYISVRRLTPAPAIIFYGI
IATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTRKELERPIKVPVVIPVLMTLI
SVFLVLAPIISKPTWEYLYCVLFILSGLLFYFLFVHYKFGWAQKISKPITMHLQMLMEVV
PPEEDPE
|
| Enzyme 16 Number of Residues |
487 |
| Enzyme 16 Molecular Weight |
53480.8 |
| Enzyme 16 Theoretical pI |
8.21 |
| Enzyme 16 GO Classification |
| Function |
- active transmembrane transporter activity
- amine transmembrane transporter activity
- amino acid transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- amine transport
- amino acid transport
- establishment of localization
- transmembrane transport
- transport
|
| Component |
|
|
| Enzyme 16 General Function |
Involved in transport |
| Enzyme 16 Specific Function |
Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high- affinity reabsorption of cystine in the kidney tubule |
| Enzyme 16 Pathways |
Not Available |
| Enzyme 16 Reactions |
Not Available |
| Enzyme 16 Pfam Domain Function |
|
| Enzyme 16 Signals |
|
| Enzyme 16 Transmembrane Regions |
- 30-50
61-81
100-120
149-169
179-199
211-231
252-272
297-317
349-369
375-395
410-430
435-455
|
| Enzyme 16 Essentiality |
Not Available |
| Enzyme 16 GenBank ID Protein |
5916108  |
| Enzyme 16 UniProtKB/Swiss-Prot ID |
P82251  |
| Enzyme 16 UniProtKB/Swiss-Prot Entry Name |
BAT1_HUMAN  |
| Enzyme 16 PDB ID |
Not Available |
| Enzyme 16 Cellular Location |
Not Available |
| Enzyme 16 Gene Sequence |
>1464 bp
ATGGGGGATACTGGCCTGAGAAAGCGGAGAGAGGATGAGAAGTCGATCCAGAGCCAAGAG
CCTAAGACCACCAGTCTCCAAAAGGAGCTGGGCCTCATCAGTGGCATCTCCATCATCGTG
GGCACCATCATTGGCTCTGGGATCTTCGTTTCCCCCAAGTCTGTGCTCAGCAACACGGAA
GCTGTGGGGCCCTGCCTCATCATATGGGCGGCTTGCGGGGTCCTCGCGACGCTGGGTGCC
CTGTGCTTTGCGGAGCTTGGCACAATGATCACCAAGTCAGGGGGAGAGTATCCCTACCTG
ATGGAGGCCTACGGGCCCATCCCCGCCTACCTCTTCTCCTGGGCCAGCCTGATCGTCATT
AAGCCCACGTCCTTCGCCATCATCTGCCTCAGCTTCTCCGAGTATGTGTGTGCGCCCTTC
TATGTGGGCTGCAAGCCTCCTCAAATCGTTGTGAAATGCCTGGCCGCCGCCGCCATCTTG
TTCATCTCGACAGTGAACTCACTGAGCGTGCGGCTGGGAAGCTACGTCCAGAACATCTTC
ACCGCGGCCAAGCTGGTGATCGTGGCCATCATCATCATCAGCGGGCTGGTGCTCCTGGCC
CAAGGAAACACAAAGAATTTTGATAATTCTTTCGAGGGCGCCCAGCTGTCTGTGGGAGCC
ATCAGCCTGGCGTTTTACAATGGACTCTGGGCCTATGATGGATGGAATCAACTCAATTAC
ATCACAGAAGAACTTAGAAACCCTTACAGAAACCTGCCTTTGGCCATTATCATCGGGATC
CCCCTGGTGACGGCGTGCTACATCCTCATGAACGTGTCCTACTTCACCGTGATGACTGCC
ACCGAACTCCTGCAGTCCCAGGCGGTGGCTGTGACATTTGGTGACCGTGTTCTCTATCCT
GCTTCTTGGATCGTTCCACTTTTTGTGGCATTTTCAACCATCGGTGCTGCTAACGGGACC
TGCTTCACAGCGGGCAGACTCATTTACGTGGCGGGCCGGGAGGGTCACATGCTCAAAGTG
CTTTCTTACATCAGCGTCAGGCGCCTCACTCCAGCCCCCGCCATCATCTTTTATGGTATC
ATAGCAACGATTTATATCATCCCTGGTGACATAAACTCGTTAGTCAATTATTTCAGCTTT
GCTGCATGGCTGTTTTATGGCCTGACGATTCTAGGACTCATCGTGATGAGATTTACAAGG
AAAGAGCTGGAAAGGCCTATCAAGGTGCCCGTAGTCATTCCCGTCTTGATGACACTCATC
TCTGTGTTTTTGGTTCTGGCTCCAATCATCAGCAAGCCCACCTGGGAGTACCTCTACTGT
GTGCTGTTTATATTAAGCGGCCTTTTATTTTACTTCCTGTTTGTCCACTACAAGTTTGGA
TGGGCTCAGAAAATCTCAAAGCCGATTACCATGCACCTTCAGATGCTAATGGAAGTGGTC
CCACCGGAGGAAGACCCTGAGTAA
|
| Enzyme 16 GenBank Gene ID |
AF141289  |
| Enzyme 16 GeneCard ID |
SLC7A9  |
| Enzyme 16 GenAtlas ID |
SLC7A9  |
| Enzyme 16 HGNC ID |
HGNC:11067  |
| Enzyme 16 Chromosome Location |
1 |
| Enzyme 16 Locus |
19q13.1 |
| Enzyme 16 SNPs |
SNPJam Report  |
| Enzyme 16 General References |
- Feliubadalo L, Font M, Purroy J, Rousaud F, Estivill X, Nunes V, Golomb E, Centola M, Aksentijevich I, Kreiss Y, Goldman B, Pras M, Kastner DL, Pras E, Gasparini P, Bisceglia L, Beccia E, Gallucci M, de Sanctis L, Ponzone A, Rizzoni GF, Zelante L, Bassi MT, George AL Jr, Manzoni M, De Grandi A, Riboni M, Endsley JK, Ballabio A, Borsani G, Reig N, Fernandez E, Estevez R, Pineda M, Torrents D, Camps M, Lloberas J, Zorzano A, Palacin M: Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. Nat Genet. 1999 Sep;23(1):52-7. [PubMed
]
- Pfeiffer R, Loffing J, Rossier G, Bauch C, Meier C, Eggermann T, Loffing-Cueni D, Kuhn LC, Verrey F: Luminal heterodimeric amino acid transporter defective in cystinuria. Mol Biol Cell. 1999 Dec;10(12):4135-47. [PubMed
]
- Mizoguchi K, Cha SH, Chairoungdua A, Kim DK, Shigeta Y, Matsuo H, Fukushima J, Awa Y, Akakura K, Goya T, Ito H, Endou H, Kanai Y: Human cystinuria-related transporter: localization and functional characterization. Kidney Int. 2001 May;59(5):1821-33. [PubMed
]
- Leclerc D, Boutros M, Suh D, Wu Q, Palacin M, Ellis JR, Goodyer P, Rozen R: SLC7A9 mutations in all three cystinuria subtypes. Kidney Int. 2002 Nov;62(5):1550-9. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Font MA, Feliubadalo L, Estivill X, Nunes V, Golomb E, Kreiss Y, Pras E, Bisceglia L, d'Adamo AP, Zelante L, Gasparini P, Bassi MT, George AL Jr, Manzoni M, Riboni M, Ballabio A, Borsani G, Reig N, Fernandez E, Zorzano A, Bertran J, Palacin M: Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. Hum Mol Genet. 2001 Feb 15;10(4):305-16. [PubMed
]
- Botzenhart E, Vester U, Schmidt C, Hesse A, Halber M, Wagner C, Lang F, Hoyer P, Zerres K, Eggermann T: Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes. Kidney Int. 2002 Oct;62(4):1136-42. [PubMed
]
- Harnevik L, Fjellstedt E, Molbaek A, Denneberg T, Soderkvist P: Mutation analysis of SLC7A9 in cystinuria patients in Sweden. Genet Test. 2003 Spring;7(1):13-20. [PubMed
]
|
| Enzyme 16 Metabolite References |
Not Available |
|
Enzyme 17
[top]
|
| Enzyme 17 ID |
7215 |
| Enzyme 17 Name |
Sodium/nucleoside cotransporter 1 |
| Enzyme 17 Synonyms |
- Concentrative nucleoside transporter 1
- CNT 1
- hCNT1
- Na(+)/nucleoside cotransporter 1
- Sodium-coupled nucleoside transporter 1
- Solute carrier family 28 member 1
|
| Enzyme 17 Gene Name |
SLC28A1 |
| Enzyme 17 Protein Sequence |
>Sodium/nucleoside cotransporter 1
MENDPSRRRESISLTPVAKGLENMGADFLESLEEGQLPRSDLSPAEIRSSWSEAAPKPFS
RWRNLQPALRARSFCREHMQLFRWIGTGLLCTGLSAFLLVACLLDFQRALALFVLTCVVL
TFLGHRLLKRLLGPKLRRFLKPQGHPRLLLWFKRGLALAAFLGLVLWLSLDTSQRPEQLV
SFAGICVFVALLFACSKHHCAVSWRAVSWGLGLQFVLGLLVIRTEPGFIAFEWLGEQIRI
FLSYTKAGSSFVFGEALVKDVFAFQVLPIIVFFSCVISVLYHVGLMQWVILKIAWLMQVT
MGTTATETLSVAGNIFVSQTEAPLLIRPYLADMTLSEVHVVMTGGYATIAGSLLGAYISF
GIDATSLIAASVMAAPCALALSKLVYPEVEESKFRREEGVKLTYGDAQNLIEAASTGAAI
SVKVVANIAANLIAFLAVLDFINAALSWLGDMVDIQGLSFQLICSYILRPVAFLMGVAWE
DCPVVAELLGIKLFLNEFVAYQDLSKYKQRRLAGAEEWVGDRKQWISVRAEVLTTFALCG
FANFSSIGIMLGGLTSMVPQRKSDFSQIVLRALFTGACVSLVNACMAGILYMPRGAEVDC
MSLLNTTLSSSSFEIYQCCREAFQSVNPEFSPEALDNCCRFYNHTICAQ
|
| Enzyme 17 Number of Residues |
649 |
| Enzyme 17 Molecular Weight |
71583.2 |
| Enzyme 17 Theoretical pI |
7.64 |
| Enzyme 17 GO Classification |
| Function |
- binding
- nucleobase, nucleoside, nucleotide and nucleic acid transmembrane transporter activity
- nucleoside binding
- nucleoside transmembrane transporter activity
- nucleoside:sodium symporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- transport
|
| Component |
|
|
| Enzyme 17 General Function |
Involved in nucleoside:sodium symporter activity |
| Enzyme 17 Specific Function |
Sodium-dependent and pyrimidine-selective. Exhibits the transport characteristics of the nucleoside transport system cit or N2 subtype (N2/cit) (selective for pyrimidine nucleosides and adenosine). It also transports the antiviral pyrimidine nucleoside analogs 3'-azido-3'-deoxythymidine (AZT) and 2',3'-dideoxycytidine (ddC). It may be involved in the intestinal absorption and renal handling of pyrimidine nucleoside analogs used to treat acquired immunodeficiency syndrome (AIDS). It has the following selective inhibition:adenosine, thymidine, cytidine, uridine >> guanosine, inosine |
| Enzyme 17 Pathways |
Not Available |
| Enzyme 17 Reactions |
Not Available |
| Enzyme 17 Pfam Domain Function |
|
| Enzyme 17 Signals |
|
| Enzyme 17 Transmembrane Regions |
- 85-105
109-128
153-171
177-197
205-225
261-281
361-381
428-448
532-552
572-592
|
| Enzyme 17 Essentiality |
Not Available |
| Enzyme 17 GenBank ID Protein |
42542381  |
| Enzyme 17 UniProtKB/Swiss-Prot ID |
O00337  |
| Enzyme 17 UniProtKB/Swiss-Prot Entry Name |
S28A1_HUMAN  |
| Enzyme 17 PDB ID |
Not Available |
| Enzyme 17 Cellular Location |
Not Available |
| Enzyme 17 Gene Sequence |
>1950 bp
ATGGAGAACGACCCCTCGAGACGAAGAGAGTCCATCTCTCTCACACCTGTGGCCAAGGGT
CTGGAGAACATGGGGGCTGATTTCTTGGAAAGCCTGGAGGAAGGCCAGCTCCCTAGGAGT
GACTTGAGCCCCGCAGAGATCAGGAGCAGCTGGAGCGAGGCGGCGCCGAAGCCCTTCTCC
AGATGGAGGAACCTGCAGCCAGCCCTGAGAGCCAGAAGCTTCTGCAGGGAGCACATGCAG
CTGTTTCGATGGATCGGCACAGGCCTGCTCTGCACTGGGCTCTCTGCCTTCCTGCTGGTG
GCCTGCCTCCTGGATTTCCAGAGGGCCCTGGCTCTGTTTGTCCTCACCTGTGTGGTCCTC
ACCTTCCTGGGCCACCGCCTGCTGAAACGGCTTCTGGGGCCAAAGCTGAGGAGGTTTCTC
AAGCCTCAGGGCCATCCCCGCCTGCTGCTCTGGTTTAAGAGGGGTCTAGCTCTTGCTGCT
TTCCTGGGCCTGGTCCTGTGGCTGTCTCTGGACACCTCCCAGCGGCCTGAGCAACTGGTG
TCCTTCGCAGGAATCTGCGTGTTCGTCGCTCTCCTCTTTGCCTGCTCAAAGCATCATTGC
GCAGTGTCCTGGAGGGCCGTGTCTTGGGGACTTGGACTGCAGTTTGTACTTGGACTCCTC
GTCATCAGAACAGAACCAGGATTCATTGCGTTCGAGTGGCTGGGCGAGCAGATCCGGATC
TTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGAT
GTCTTTGCCTTTCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTC
TACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGATTGCCTGGCTGATGCAAGTCACC
ATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGACC
GAGGCTCCATTACTGATCCGGCCCTACTTGGCAGACATGACACTCTCTGAAGTCCACGTT
GTCATGACCGGAGGTTACGCCACCATTGCTGGCAGCCTGCTGGGTGCCTACATCTCCTTT
GGGATCGATGCCACCTCGTTGATTGCAGCCTCTGTGATGGCTGCCCCTTGTGCCTTGGCC
CTCTCCAAGCTGGTCTACCCGGAGGTGGAGGAGTCCAAGTTTAGGAGGGAGGAAGGAGTG
AAACTGACCTATGGAGATGCTCAGAACCTCATAGAAGCAGCCAGCACTGGGGCCGCCATC
TCCGTGAAGGTGGTCGCCAACATCGCTGCCAACCTGATTGCGTTCCTGGCTGTGCTGGAC
TTTATCAATGCTGCCCTCTCCTGGCTGGGAGACATGGTGGACATCCAGGGGCTCAGCTTC
CAGCTCATCTGCTCCTACATCCTGCGGCCTGTAGCCTTCTTGATGGGTGTGGCGTGGGAG
GACTGCCCAGTGGTAGCTGAGCTGCTGGGGATCAAGCTGTTTCTGAACGAGTTTGTGGCC
TATCAAGACCTCTCCAAGTACAAGCAACGCCGCCTGGCAGGGGCCGAGGAGTGGGTCGGC
GACAGGAAGCAGTGGATCTCCGTCAGAGCTGAAGTCCTCACGACGTTTGCCCTCTGTGGA
TTTGCCAATTTCAGCTCCATTGGGATCATGCTGGGAGGCTTGACCTCCATGGTCCCCCAA
CGGAAGAGCGACTTCTCCCAGATAGTGCTCCGGGCGCTCTTCACGGGAGCCTGTGTGTCC
CTGGTGAACGCCTGTATGGCAGGGATCCTCTACATGCCCAGGGGGGCTGAAGTTGACTGC
ATGTCCCTCTTGAACACGACCCTCAGCAGCAGTAGCTTTGAGATTTACCAGTGCTGCCGT
GAGGCCTTCCAGAGCGTCAATCCAGAGTTCAGCCCAGAGGCCCTGGACAACTGCTGTCGG
TTTTACAACCACACGATCTGTGCACAGTGA
|
| Enzyme 17 GenBank Gene ID |
NM_004213.3  |
| Enzyme 17 GeneCard ID |
SLC28A1  |
| Enzyme 17 GenAtlas ID |
SLC28A1  |
| Enzyme 17 HGNC ID |
HGNC:11001  |
| Enzyme 17 Chromosome Location |
1 |
| Enzyme 17 Locus |
15q25.3 |
| Enzyme 17 SNPs |
SNPJam Report  |
| Enzyme 17 General References |
- Ritzel MW, Yao SY, Huang MY, Elliott JF, Cass CE, Young JD: Molecular cloning and functional expression of cDNAs encoding a human Na+-nucleoside cotransporter (hCNT1). Am J Physiol. 1997 Feb;272(2 Pt 1):C707-14. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Zody MC, Garber M, Sharpe T, Young SK, Rowen L, O'Neill K, Whittaker CA, Kamal M, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Kodira CD, Madan A, Qin S, Yang X, Abbasi N, Abouelleil A, Arachchi HM, Baradarani L, Birditt B, Bloom S, Bloom T, Borowsky ML, Burke J, Butler J, Cook A, DeArellano K, DeCaprio D, Dorris L 3rd, Dors M, Eichler EE, Engels R, Fahey J, Fleetwood P, Friedman C, Gearin G, Hall JL, Hensley G, Johnson E, Jones C, Kamat A, Kaur A, Locke DP, Madan A, Munson G, Jaffe DB, Lui A, Macdonald P, Mauceli E, Naylor JW, Nesbitt R, Nicol R, O'Leary SB, Ratcliffe A, Rounsley S, She X, Sneddon KM, Stewart S, Sougnez C, Stone SM, Topham K, Vincent D, Wang S, Zimmer AR, Birren BW, Hood L, Lander ES, Nusbaum C: Analysis of the DNA sequence and duplication history of human chromosome 15. Nature. 2006 Mar 30;440(7084):671-5. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Loewen SK, Ng AM, Yao SY, Cass CE, Baldwin SA, Young JD: Identification of amino acid residues responsible for the pyrimidine and purine nucleoside specificities of human concentrative Na(+) nucleoside cotransporters hCNT1 and hCNT2. J Biol Chem. 1999 Aug 27;274(35):24475-84. [PubMed
]
|
| Enzyme 17 Metabolite References |
Not Available |
|
Enzyme 18
[top]
|
| Enzyme 18 ID |
7373 |
| Enzyme 18 Name |
Neutral amino acid transporter B(0) |
| Enzyme 18 Synonyms |
- ATB(0)
- Baboon M7 virus receptor
- RD114/simian type D retrovirus receptor
- Sodium-dependent neutral amino acid transporter type 2
- Solute carrier family 1 member 5
|
| Enzyme 18 Gene Name |
SLC1A5 |
| Enzyme 18 Protein Sequence |
>Neutral amino acid transporter B(0)
MVADPPRDSKGLAAAEPTANGGLALASIEDQGAAAGGYCGSRDQVRRCLRANLLVLLTVV
AVVAGVALGLGVSGAGGALALGPERLSAFVFPGELLLRLLRMIILPLVVCSLIGGAASLD
PGALGRLGAWALLFFLVTTLLASALGVGLALALQPGAASAAINASVGAAGSAENAPSKEV
LDSFLDLARNIFPSNLVSAAFRSYSTTYEERNITGTRVKVPVGQEVEGMNILGLVVFAIV
FGVALRKLGPEGELLIRFFNSFNEATMVLVSWIMWYAPVGIMFLVAGKIVEMEDVGLLFA
RLGKYILCCLLGHAIHGLLVLPLIYFLFTRKNPYRFLWGIVTPLATAFGTSSSSATLPLM
MKCVEENNGVAKHISRFILPIGATVNMDGAALFQCVAAVFIAQLSQQSLDFVKIITILVT
ATASSVGAAGIPAGGVLTLAIILEAVNLPVDHISLILAVDWLVDRSCTVLNVEGDALGAG
LLQNYVDRTESRSTEPELIQVKSELPLDPLPVPTEEGNPLLKHYRGPAGDATVASEKESV
M
|
| Enzyme 18 Number of Residues |
541 |
| Enzyme 18 Molecular Weight |
56597.6 |
| Enzyme 18 Theoretical pI |
5.14 |
| Enzyme 18 GO Classification |
| Function |
- carboxylic acid transmembrane transporter activity
- dicarboxylic acid transmembrane transporter activity
- organic acid transmembrane transporter activity
- sodium:dicarboxylate symporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- carboxylic acid transport
- dicarboxylic acid transport
- establishment of localization
- organic acid transport
- transport
|
| Component |
|
|
| Enzyme 18 General Function |
Involved in sodium:dicarboxylate symporter activity |
| Enzyme 18 Specific Function |
Has a broad substrate specificity, a preference for zwitterionic amino acids, and a sodium-dependence. It accepts as substrates all neutral amino acids, including glutamine, asparagine, and branched-chain and aromatic amino acids, and excludes methylated amino acids, anionic amino acids, and cationic amino acids. Act as a cell surface receptor for feline endogenous virus RD114, baboon M7 endogenous virus and type D simian retroviruses |
| Enzyme 18 Pathways |
Not Available |
| Enzyme 18 Reactions |
Not Available |
| Enzyme 18 Pfam Domain Function |
|
| Enzyme 18 Signals |
|
| Enzyme 18 Transmembrane Regions |
- 53-73
99-119
133-153
225-245
266-286
306-326
336-356
377-397
399-419
426-446
|
| Enzyme 18 Essentiality |
Not Available |
| Enzyme 18 GenBank ID Protein |
4191556  |
| Enzyme 18 UniProtKB/Swiss-Prot ID |
Q15758  |
| Enzyme 18 UniProtKB/Swiss-Prot Entry Name |
AAAT_HUMAN  |
| Enzyme 18 PDB ID |
Not Available |
| Enzyme 18 Cellular Location |
Not Available |
| Enzyme 18 Gene Sequence |
>1626 bp
ATGGTGGCCGATCCTCCTCGAGACTCCAAGGGGCTCGCAGCGGCGGAGCCCACCGCCAAC
GGGGGCCTGGCGCTGGCCTCCATCGAGGACCAAGGCGCGGCAGCAGGCGGCTACTGCGGT
TCCCGGGACCAGGTGCGCCGCTGCCTTCGAGCCAACCTGCTTGTGCTGCTGACAGTGGTG
GCCGTGGTGGCCGGCGTGGCGCTGGGACTGGGGGTGTCGGGGGCCGGGGGTGCGCTGGCG
TTGGGCCCGGAGCGCTTGAGCGCCTTCGTCTTCCCGGGCGAGCTGCTGCTGCGTCTGCTG
CGGATGATCATCTTGCCGCTGGTGGTGTGCAGCTTGATAGGCGGCGCCGCCAGCCTGGAC
CCCGGCGCGCTCGGCCGTCTGGGCGCCTGGGCGCTGCTCTTTTTCCTGGTCACCACGCTG
CTGGCGTCGGCGCTCGGAGTGGGCTTGGCGCTGGCTCTGCAGCCGGGCGCCGCCTCCGCC
GCCATCAACGCCTCCGTGGGAGCCGCGGGCAGTGCCGAAAATGCCCCCAGCAAGGAGGTG
CTCGATTCGTTCCTGGATCTTGCGAGAAATATCTTCCCTTCCAACCTGGTGTCAGCAGCC
TTTCGCTCATACTCTACCACCTATGAAGAGAGGAATATCACCGGAACCAGGGTGAAGGTG
CCCGTGGGGCAGGAGGTGGAGGGGATGAACATCCTGGGCTTGGTAGTGTTTGCCATCGTC
TTTGGTGTGGCGCTGCGGAAGCTGGGGCCTGAAGGGGAGCTGCTTATCCGCTTCTTCAAC
TCCTTCAATGAGGCCACCATGGTTCTGGTCTCCTGGATCATGTGGTACGCCCCTGTGGGC
ATCATGTTCCTGGTGGCTGGCAAGATCGTGGAGATGGAGGATGTGGGTTTACTCTTTGCC
CGCCTTGGCAAGTACATTCTGTGCTGCCTGCTGGGTCACGCCATCCATGGGCTCCTGGTA
CTGCCCCTCATCTACTTCCTCTTCACCCGCAAAAACCCCTACCGCTTCCTGTGGGGCATC
GTGACGCCGCTGGCCACTGCCTTTGGGACCTCTTCCAGTTCCGCCACGCTGCCGCTGATG
ATGAAGTGCGTGGAGGAGAATAATGGCGTGGCCAAGCACATCAGCCGTTTCATCCTGCCC
ATCGGCGCCACCGTCAACATGGACGGTGCCGCGCTCTTCCAGTGCGTGGCCGCAGTGTTC
ATTGCACAGCTCAGCCAGCAGTCCTTGGACTTCGTAAAGATCATCACCATCCTGGTCACG
GCCACAGCGTCCAGCGTGGGGGCAGCGGGCATCCCTGCTGGAGGTGTCCTCACTCTGGCC
ATCATCCTCGAAGCAGTCAACCTCCCGGTCGACCATGTCTCCTTGATCCTGGCTGTGGGC
TGGCTAGCCGACCGGTCCTGTACCGTCCTCAATGTAGAAGGTGACGCTCTGGGGGCAGGA
CTCCTCCAAAATTACGTGGACCGTACGGAGTCGAGAAGCACAGAGCCTGAGTTGATACAA
GTGAAGAGTGAGCTGCCCCTGGGTCCGCTGCCAGTCCCCACTGAGGAAGGAAACCCCCTC
CTCAAACACTATCGGGGGCCCGCAGGGGATGCCACGGTCGCCTCTGAGAAGGAATCAGTC
ATGTAA
|
| Enzyme 18 GenBank Gene ID |
AF102826  |
| Enzyme 18 GeneCard ID |
SLC1A5  |
| Enzyme 18 GenAtlas ID |
SLC1A5  |
| Enzyme 18 HGNC ID |
HGNC:10943  |
| Enzyme 18 Chromosome Location |
1 |
| Enzyme 18 Locus |
19q13.3 |
| Enzyme 18 SNPs |
SNPJam Report  |
| Enzyme 18 General References |
- Kekuda R, Prasad PD, Fei YJ, Torres-Zamorano V, Sinha S, Yang-Feng TL, Leibach FH, Ganapathy V: Cloning of the sodium-dependent, broad-scope, neutral amino acid transporter Bo from a human placental choriocarcinoma cell line. J Biol Chem. 1996 Aug 2;271(31):18657-61. [PubMed
]
- Rasko JE, Battini JL, Gottschalk RJ, Mazo I, Miller AD: The RD114/simian type D retrovirus receptor is a neutral amino acid transporter. Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2129-34. [PubMed
]
- Tailor CS, Nouri A, Zhao Y, Takeuchi Y, Kabat D: A sodium-dependent neutral-amino-acid transporter mediates infections of feline and baboon endogenous retroviruses and simian type D retroviruses. J Virol. 1999 May;73(5):4470-4. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Tailor CS, Marin M, Nouri A, Kavanaugh MP, Kabat D: Truncated forms of the dual function human ASCT2 neutral amino acid transporter/retroviral receptor are translationally initiated at multiple alternative CUG and GUG codons. J Biol Chem. 2001 Jul 20;276(29):27221-30. Epub 2001 May 11. [PubMed
]
- Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. Cell. 2006 Nov 3;127(3):635-48. [PubMed
]
- Chi A, Valencia JC, Hu ZZ, Watabe H, Yamaguchi H, Mangini NJ, Huang H, Canfield VA, Cheng KC, Yang F, Abe R, Yamagishi S, Shabanowitz J, Hearing VJ, Wu C, Appella E, Hunt DF: Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. J Proteome Res. 2006 Nov;5(11):3135-44. [PubMed
]
- Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. Epub 2008 Jul 31. [PubMed
]
- Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. Anal Chem. 2009 Jun 1;81(11):4493-501. [PubMed
]
- Wollscheid B, Bausch-Fluck D, Henderson C, O'Brien R, Bibel M, Schiess R, Aebersold R, Watts JD: Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins. Nat Biotechnol. 2009 Apr;27(4):378-86. Epub 2009 Apr 6. [PubMed
]
- Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. Sci Signal. 2009 Aug 18;2(84):ra46. [PubMed
]
|
| Enzyme 18 Metabolite References |
Not Available |
|
Enzyme 19
[top]
|
| Enzyme 19 ID |
7412 |
| Enzyme 19 Name |
Tenascin-R |
| Enzyme 19 Synonyms |
- TN-R
- Janusin
- Restrictin
|
| Enzyme 19 Gene Name |
TNR |
| Enzyme 19 Protein Sequence |
>Tenascin-R
MGADGETVVLKNMLIGVNLILLGSMIKPSECQLEVTTERVQRQSVEEEGGIANYNTSSKE
QPVVFNHVYNINVPLDNLCSSGLEASAEQEVSAEDETLAEYMGQTSDHESQVTFTHRINF
PKKACPCASSAQVLQELLSRIEMLEREVSVLRDQCNANCCQESAATGQLDYIPHCSGHGN
FSFESCGCICNEGWFGKNCSEPYCPLGCSSRGVCVDGQCICDSEYSGDDCSELRCPTDCS
SRGLCVDGECVCEEPYTGEDCRELRCPGDCSGKGRCANGTCLCEEGYVGEDCGQRQCLNA
CSGRGQCEEGLCVCEEGYQGPDCSAVAPPEDLRVAGISDRSIELEWDGPMAVTEYVISYQ
PTALGGLQLQQRVPGDWSGVTITELEPGLTYNISVYAVISNILSLPITAKVATHLSTPQG
LQFKTITETTVEVQWEPFSFSFDGWEISFIPKNNEGGVIAQVPSDVTSFNQTGLKPGEEY
IVNVVALKEQARSPPTSASVSTVIDGPTQILVRDVSDTVAFVEWIPPRAKVDFILLKYGL
VGGEGGRTTFRLQPPLSQYSVQALRPGSRYEVSVSAVRGTNESDSATTQFTTEIDAPKNL
RVGSRTATSLDLEWDNSEAEVQEYKVVYSTLAGEQYHEVLVPRGIGPTTRATLTDLVPGT
EYGVGISAVMNSQQSVPATMNARTELDSPRDLMVTASSETSISLIWTKASGPIDHYRITF
TPSSGIASEVTVPKDRTSYTLTDLEPGAEYIISVTAERGRQQSLESTVDAFTGFRPISHL
HFSHVTSSSVNITWSDPSPPADRLILNYSPRDEEEEMMEVSLDATKRHAVLMGLQPATEY
IVNLVAVHGTVTSEPIVGSITTGIDPPKDITISNVTKDSVMVSWSPPVASFDYYRVSYRP
TQVGRLDSSVVPNTVTEFTITRLNPATEYEISLNSVRGREESERICTLVHTAMDNPVDLI
ATNITPTEALLQWKAPVGEVENYVIVLTHFAVAGETILVDGVSEEFRLVDLLPSTHYTAT
MYATNGPLTSGTISTNFSTLLDPPANLTASEVTRQSALISWQPPRAEIENYVLTYKSTDG
SRKELIVDAEDTWIRLEGLLENTDYTVLLQAAQDTTWSSITSTAFTTGGRVFPHPQDCAQ
HLMNGDTLSGVYPIFLNGELSQKLQVYCDMTTDGGGWIVFQRRQNGQTDFFRKWADYRVG
FGNVEDEFWLGLDNIHRITSQGRYELRVDMRDGQEAAFASYDRFSVEDSRNLYKLRIGSY
NGTAGDSLSYHQGRPFSTEDRDNDVAVTNCAMSYKGAWWYKNCHRTNLNGKYGESRHSQG
INWYHWKGHEFSIPFVEMKMRPYNHRLMAGRKRQSLQF
|
| Enzyme 19 Number of Residues |
1358 |
| Enzyme 19 Molecular Weight |
149546.7 |
| Enzyme 19 Theoretical pI |
4.44 |
| Enzyme 19 GO Classification |
| Function |
- binding
- protein binding
- receptor binding
|
| Process |
- biological regulation
- regulation of biological process
- regulation of cellular process
- signal transduction
|
| Component |
| — |
|
| Enzyme 19 General Function |
Involved in receptor binding |
| Enzyme 19 Specific Function |
Neural extracellular matrix (ECM) protein involved in interactions with different cells and matrix components. These interactions can influence cellular behavior by either evoking a stable adhesion and differentiation, or repulsion and inhibition of neurite growth. Binding to cell surface gangliosides inhibits RGD-dependent integrin-mediated cell adhesion and results in an inhibition of PTK2 (FAK) phosphorylation and cell detachment. Binding to membrane surface sulfatides results in a oligodendrocyte adhesion and differentiation. Interaction with CNTN1 induces a repulsion of neurons and an inhibition of neurite outgrowth. Interacts with SCN2B may play a crucial role in clustering and regulation of activity of sodium channels at nodes of Ranvier. TNR-linked chondroitin sulfate glycosaminoglycans are involved in the interaction with FN1 and mediate inhibition of cell adhesion and neurite outgrowth. The highly regulated addition of sulfated carbohydrate structure may modulate the adhesive properties of TNR over the course of development and during synapse maintenance |
| Enzyme 19 Pathways |
Not Available |
| Enzyme 19 Reactions |
Not Available |
| Enzyme 19 Pfam Domain Function |
|
| Enzyme 19 Signals |
|
| Enzyme 19 Transmembrane Regions |
|
| Enzyme 19 Essentiality |
Not Available |
| Enzyme 19 GenBank ID Protein |
1617316  |
| Enzyme 19 UniProtKB/Swiss-Prot ID |
Q92752  |
| Enzyme 19 UniProtKB/Swiss-Prot Entry Name |
TENR_HUMAN  |
| Enzyme 19 PDB ID |
1TDQ  |
| Enzyme 19 PDB File |
Show |
| Enzyme 19 3D Structure |
|
| Enzyme 19 Cellular Location |
Not Available |
| Enzyme 19 Gene Sequence |
>4077 bp
ATGGGGGCAGATGGGGAAACAGTGGTTCTGAAGAACATGCTCATTGGCGTCAACCTGATC
CTTCTGGGCTCCATGATCAAGCCTTCAGAGTGTCAGCTGGAGGTCACCACAGAAAGGGTC
CAGAGACAGTCAGTGGAGGAGGAGGGAGGCATTGCCAACTACAACACGTCCAGCAAAGAG
CAGCCTGTGGTCTTCAACCACGTGTACAACATTAACGTGCCCTTGGACAACCTCTGCTCC
TCAGGGCTAGAGGCCTCTGCTGAGCAGGAGGTGAGTGCAGAAGACGAGACTCTGGCAGAG
TACATGGGCCAGACCTCAGACCACGAGAGCCAGGTTACCTTTACACACAGGATCAACTTC
CCCAAAAAGGCCTGTCCATGTGCCAGTTCAGCCCAGGTGCTGCAGGAGCTGCTGAGCCGG
ATCGAGATGCTGGAGAGGGAGGTGTCGGTGCTGCGAGACCAGTGCAACGCCAACTGCTGC
CAAGAAAGTGCTGCCACAGGACAACTGGACTATATCCCTCACTGCAGCGGCCACGGCAAC
TTTAGCTTTGAGTCCTGTGGCTGCATCTGCAACGAAGGCTGGTTTGGCAAGAATTGCTCG
GAGCCCTACTGCCCGCTGGGTTGCTCCAGCCGGGGGGTGTGTGTGGATGGCCAGTGCATC
TGTGACAGCGAGTACAGCGGGGATGACTGTTCCGAACTCCGGTGCCCAACAGACTGCAGC
TCCCGGGGGCTCTGCGTGGACGGTGAGTGTGTCTGTGAAGAGCCCTACACTGGCGAGGAC
TGCAGGGAACTGAGGTGCCCTGGGGACTGTTCGGGGAAGGGGAGATGTGCCAACGGTACC
TGTTTATGCGAGGAGGGCTACGTTGGTGAGGACTGCGGCCAGCGGCAGTGTCTGAATGCC
TGCAGTGGGCGAGGACAATGTGAGGAGGGGCTCTGCGTCTGTGAAGAGGGCTACCAGGGC
CCTGACTGCTCAGCAGTTGCCCCTCCAGAGGACTTGCGAGTGGCTGGTATCAGCGACAGG
TCCATTGAGCTGGAATGGGACGGGCCGATGGCAGTGACGGAATATGTGATCTCTTACCAG
CCGACGGCCCTGGGGGGCCTCCAGCTCCAGCAGCGGGTGCCTGGAGATTGGAGTGGTGTC
ACCATCACGGAGCTGGAGCCAGGTCTCACCTACAACATCAGCGTCTACGCTGTCATTAGC
AACATCCTCAGCCTTCCCATCACTGCCAAGGTGGCCACCCATCTCTCCACTCCTCAAGGG
CTACAATTTAAGACGATCACAGAGACCACCGTGGAGGTGCAGTGGGAGCCCTTCTCATTT
TCCTTCGATGGGTGGGAAATCAGCTTCATTCCAAAGAACAATGAAGGGGGAGTGATTGCT
CAGGTCCCCAGCGATGTTACGTCCTTTAACCAGACAGGACTAAAGCCTGGGGAGGAATAC
ATTGTCAATGTGGTGGCTCTGAAAGAACAGGCCCGCAGCCCCCCTACCTCGGCCAGCGTC
TCCACAGTCATTGACGGCCCCACGCAGATCCTGGTTCGCGATGTCTCGGACACCGTGGCT
TTTGTGGAGTGGATTCCCCCTCGAGCCAAAGTCGATTTCATTCTTTTGAAATATGGCCTG
GTGGGCGGGGAAGGTGGGAGGACCACCTTCCGGCTGCAGCCTCCCCTGAGCCAATACTCA
GTGCAGGCCCTGCGGCCTGGCTCCCGATACGAGGTGTCAGTCAGTGCCGTCCGAGGGACC
AACGAGAGCGATTCTGCCACCACTCAGTTCACAACAGAGATCGATGCCCCCAAGAACTTG
CGAGTTGGTTCTCGCACAGCAACCAGCCTTGACCTCGAGTGGGATAACAGTGAAGCCGAA
GTTCAGGAGTACAAGGTTGTGTACATCACCCTGGCGGGTGAGCAATATCATGAGGTACTG
GTCCCCAGGGGCATTGGTCCAACCACCAGGGCCACCCTGACAGATCTGGTACCTGGCACT
GAGTATGGAGTTGGAATATCTGCCGTCATGAACTCACAGCAAAGCGTGCCAGCCACCATG
AATGCCAGGACTGAACTTGACAGTCCCCGAGACCTCATGGTGACAGCCTCCTCGGAGACC
TCCATCTCCCTCATCTGGACCAAGGCCAGTGGCCCCATTGACCACTACCGAATTACCTTT
ACCCCATCCTCTGGGATTGCCTCAGAAGTCACCGTACCCAAGGACAGGACCTCATACACA
CTAACAGATCTAGAGCCTGGGGCAGAGTACATCATTTCCGTCACTGCTGAGAGGGGTCGG
CAGCAGAGCTTGGAGTCCACTGTGGATGCTTTCACAGGCTTCCGTCCCATCTCTCATCTG
CACTTTTCTCATGTGACCTCCTCCAGTGTGAACATCACTTGGAGTGATCCATCTCCCCCA
GCAGACAGACTCATTCTTAACTACAGCCCCAGGGATGAGGAGGAAGAGATGATGGAGGTC
TCCCTGGATGCCACCAAGAGGCATGCTGTCCTGATGGGCCTGCAACCAGCCACAGAGTAT
ATTGTGAACCTTGTGGCTGTCCATGGCACAGTGACCTCTGAGCCCATTGTGGGCTCCATC
ACCACAGGAATTGATCCCCCAAAAGACATCACAATTAGCAATGTGACCAAGGACTCAGTG
ATGGTCTCCTGGAGCCCTCCTGTTGCATCTTTCGATTACTACCGAGTATCATATCGACCC
ACCCAAGTGGGACGACTAGACAGCTCAGTGGTGCCCAACACTGTGACAGAATTCACCATC
ACCAGACTGAACCCAGCTACCGAATACGAAATCAGCCTCAACAGCGTGCGGGGCAGGGAG
GAAAGCGAGCGCATCTGTACTCTTGTGCACACAGCCATGGACAACCCTGTGGATCTGATT
GCTACCAATATCACTCCAACAGAAGCCCTGCTGCAGTGGAAGGCACCAGTGGGTGAGGTG
GAGAACTACGTCATTGTTCTTACACACTTTGCAGTCGCTGGAGAGACCATCCTTGTTGAC
GGAGTCAGTGAGGAATTTCGGCTTGTTGACCTGCTTCCTAGCACCCACTATACTGCCACC
ATGTATGCCACCAATGGACCTCTCACCAGTGGCACCATCAGCACCAACTTTTCTACTCTC
CTGGACCCTCCGGCAAACCTGACAGCCAGTGAAGTCACCAGACAAAGTGCCCTGATCTCC
TGGCAGCCTCCCAGGGCAGAGATTGAAAATTATGTCTTGACCTACAAATCCACCGACGGA
AGCCGCAAGGAGCTGATTGTGGATGCAGAAGACACCTGGATTCGACTGGAGGGCCTGTTG
GAGAACACAGACTACACGGTGCTCCTGCAGGCAGCACAGGACACCACGTGGAGCAGCATC
ACCTCCACCGCTTTCACCACAGGAGGCCGGGTGTTCCCTCATCCCCAAGACTGTGCCCAG
CATTTGATGAATGGAGACACTTTGAGTGGGGTTTACCCCATCTTCCTCAATGGGGAGCTG
AGCCAGAAATTACAAGTGTACTGTGATATGACCACCGACGGGGGCGGCTGGATTGTATTC
CAGAGGCGGCAGAATGGCCAAACTGATTTTTTCCGGAAATGGGCTGATTACCGTGTTGGC
TTCGGGAACGTGGAGGATGAGTTCTGGCTGGGGCTGGACAATATACACAGGATCACATCC
CAGGGCCGCTATGAGCTGCGCGTGGACATGCGGGATGGCCAGGAGGCCGCCTTCGCCTCC
TACGACAGGTTCTCTGTCGAGGACAGCAGAAACCTGTACAAACTCCGCATAGGAAGCTAC
AACGGCACTGCGGGGGACTCCCTCAGCTATCATCAAGGACGCCCTTTCTCCACAGAGGAT
AGAGACAATGATGTTGCAGTGACTAACTGTGCCATGTCGTACAAGGGAGCATGGTGGTAT
AAGAACTGCCACCGGACCAACCTCAATGGGAAGTACGGGGAGTCCAGGCACAGTCAGGGC
ATCAACTGGTACCATTGGAAAGGCCATGAGTTCTCCATCCCCTTTGTGGAAATGAAGATG
CGCCCCTACAACCACCGTCTCATGGCAGGGAGAAAACGGCAGTCCTTACAGTTCTGA
|
| Enzyme 19 GenBank Gene ID |
X98085  |
| Enzyme 19 GeneCard ID |
TNR  |
| Enzyme 19 GenAtlas ID |
TNR  |
| Enzyme 19 HGNC ID |
HGNC:11953  |
| Enzyme 19 Chromosome Location |
1 |
| Enzyme 19 Locus |
1q24 |
| Enzyme 19 SNPs |
SNPJam Report  |
| Enzyme 19 General References |
- Carnemolla B, Leprini A, Borsi L, Querze G, Urbini S, Zardi L: Human tenascin-R. Complete primary structure, pre-mRNA alternative splicing and gene localization on chromosome 1q23-q24. J Biol Chem. 1996 Apr 5;271(14):8157-60. [PubMed
]
- Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C, Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K, Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C, Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G, Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V, Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M, Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J, French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM, Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD, Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S, Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S, Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K, Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G, Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL, Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z, Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R, Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S, Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD, Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF, Pandian RD, Porter KM, Prigmore E: The DNA sequence and biological annotation of human chromosome 1. Nature. 2006 May 18;441(7091):315-21. [PubMed
]
- Nilsson J, Ruetschi U, Halim A, Hesse C, Carlsohn E, Brinkmalm G, Larson G: Enrichment of glycopeptides for glycan structure and attachment site identification. Nat Methods. 2009 Nov;6(11):809-11. Epub 2009 Oct 18. [PubMed
]
|
| Enzyme 19 Metabolite References |
Not Available |
|
Enzyme 20
[top]
|
| Enzyme 20 ID |
7437 |
| Enzyme 20 Name |
Transient receptor potential cation channel subfamily M member 2 |
| Enzyme 20 Synonyms |
- Estrogen-responsive element-associated gene 1 protein
- Long transient receptor potential channel 2
- LTrpC-2
- LTrpC2
- Transient receptor potential channel 7
- TrpC7
|
| Enzyme 20 Gene Name |
TRPM2 |
| Enzyme 20 Protein Sequence |
>Transient receptor potential cation channel subfamily M member 2
MEPSALRKAGSEQEEGFEGLPRRVTDLGMVSNLRRSNSSLFKSWRLQCPFGNNDKQESLS
SWIPENIKKKECVYFVESSKLSDAGKVVCQCGYTHEQHLEEATKPHTFQGTQWDPKKHVQ
EMPTDAFGDIVFTGLSQKVKKYVRVSQDTPSSVIYHLMTQHWGLDVPNLLISVTGGAKNF
NMKPRLKSIFRRGLVKVAQTTGAWIITGGSHTGVMKQVGEAVRDFSLSSSYKEGELITIG
VATWGTVHRREGLIHPTGSFPAEYILDEDGQGNLTCLDSNHSHFILVDDGTHGQYGVEIP
LRTRLEKFISEQTKERGGVAIKIPIVCVVLEGGPGTLHTIDNATTNGTPCVVVEGSGRVA
DVIAQVANLPVSDITISLIQQKLSVFFQEMFETFTESRIVEWTKKIQDIVRRRQLLTVFR
EGKDGQQDVDVAILQALLKASRSQDHFGHENWDHQLKLAVAWNRVDIARSEIFMDEWQWK
PSDLHPTMTAALISNKPEFVKLFLENGVQLKEFVTWDTLLYLYENLDPSCLFHSKLQKVL
VEDPERPACAPAAPRLQMHHVAQVLRELLGDFTQPLYPRPRHNDRLRLLLPVPHVKLNVQ
GVSLRSLYKRSSGHVTFTMDPIRDLLIWAIVQNRRELAGIIWAQSQDCIAAALACSKILK
ELSKEEEDTDSSEEMLALAEEYEHRAIGVFTECYRKDEERAQKLLTRVSEAWGKTTCLQL
ALEAKDMKFVSHGGIQAFLTKVWWGQLSVDNGLWRVTLCMLAFPLLLTGLISFREKRLQD
VGTPAARARAFFTAPVVVFHLNILSYFAFLCLFAYVLMVDFQPVPSWCECAIYLWLFSLV
CEEMRQLFYDPDECGLMKKAALYFSDFWNKLDVGAILLFVAGLTCRLIPATLYPGRVILS
LDFILFCLRLMHIFTISKTLGPKIIIVKRMMKDVFFFLFLLAVWVVSFGVAKQAILIHNE
RRVDWLFRGAVYHSYLTIFGQIPGYIDGVNFNPEHCSPNGTDPYKPKCPESDATQQRPAF
PEWLTVLLLCLYLLFTNILLLNLLIAMFNYTFQQVQEHTDQIWKFQRHDLIEEYHGRPAA
PPPFILLSHLQLFIKRVVLKTPAKRHKQLKNKLEKNEEAALLSWEIYLKENYLQNRQFQQ
KQRPEQKIEDISNKVDAMVDLLDLDPLKRSGSMEQRLASLEEQVAQTAQALHWIVRTLRA
SGFSSEADVPTLASQKAAEEPDAEPGGRKKTEEPGDSYHVNARHLLYPNCPVTRFPVPNE
KVPWETEFLIYDPPFYTAERKDAAAMDPMGDTLEPLSTIQYNVVDGLRDRRSFHGPYTVQ
AGLPLNPMGRTGLRGRGSLSCFGPNHTLYPMVTRWRRNEDGAICRKSIKKMLEVLVVKLP
LSEHWALPGGSREPGEMLPRKLKRILRQEHWPSFENLLKCGMEVYKGYMDDPRNTDNAWI
ETVAVSVHFQDQNDVELNRLNSNLHACDSGASIRWQVVDRRIPLYANHKTLLQKAAAEFG
AHY
|
| Enzyme 20 Number of Residues |
1503 |
| Enzyme 20 Molecular Weight |
171196.8 |
| Enzyme 20 Theoretical pI |
7.53 |
| Enzyme 20 GO Classification |
| Function |
- catalytic activity
- hydrolase activity
- ion channel activity
- ion transmembrane transporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- ion transport
- transmembrane transport
- transport
|
| Component |
|
|
| Enzyme 20 General Function |
Involved in ion channel activity |
| Enzyme 20 Specific Function |
Nonselective, voltage-independent cation channel mediating sodium and calcium ion influx in response to oxidative stress. Extracellular calcium passes through the channel and acts from the intracellular side as a positive regulator in channel activation. Activated by ADP-ribose, nicotinamide adenine dinucleotide (NAD(+)), reactive nitrogen species and arachidonic acid. Inactivated by intracellular ATP. Confers susceptibility to cell death following oxidative stress. Isoform 2 does not seem to be regulated by ADPR. Has ADP-ribose pyrophosphatase activity |
| Enzyme 20 Pathways |
|
| Enzyme 20 Reactions |
- ADP-ribose + H2O = AMP + D-ribose 5-phosphate [RN:R01054]
|
| Enzyme 20 Pfam Domain Function |
|
| Enzyme 20 Signals |
|
| Enzyme 20 Transmembrane Regions |
- 753-773
796-816
873-893
897-917
937-957
1026-1046
|
| Enzyme 20 Essentiality |
Not Available |
| Enzyme 20 GenBank ID Protein |
3928756  |
| Enzyme 20 UniProtKB/Swiss-Prot ID |
O94759  |
| Enzyme 20 UniProtKB/Swiss-Prot Entry Name |
TRPM2_HUMAN  |
| Enzyme 20 PDB ID |
Not Available |
| Enzyme 20 Cellular Location |
Not Available |
| Enzyme 20 Gene Sequence |
>4512 bp
ATGGAGCCCTCAGCCCTGAGGAAAGCTGGCTCGGAGCAGGAGGAGGGCTTTGAGGGGCTG
CCCAGAAGGGTCACTGACCTGGGGATGGTCTCCAATCTCCGGCGCAGCAACAGCAGCCTC
TTCAAGAGCTGGAGGCTACAGTGCCCCTTCGGCAACAATGACAAGCAAGAAAGCCTCAGT
TCGTGGATTCCTGAAAACATCAAGAAGAAAGAATGCGTGTATTTTGTGGAAAGTTCCAAA
CTGTCTGATGCTGGGAAGGTGGTGTGTCAGTGTGGCTACACGCATGAGCAGCACTTGGAG
GAGGCTACCAAGCCCCACACCTTCCAGGGCACACAGTGGGACCCAAAGAAACATGTCCAG
GAGATGCCAACCGATGCCTTTGGCGACATCGTCTTCACGGGCCTGAGCCAGAAGGTGAAA
AAGTACGTCCGAGTCTCCCAGGACACGCCCTCCAGCGTGATCTACCACCTCATGACCCAG
CACTGGGGGCTGGACGTCCCCAATCTCTTGATCTCGGTGACCGGGGGGGCCAAGAACTTC
AACATGAAGCCGCGGCTGAAGAGCATTTTCCGCAGAGGCCTGGTCAAGGTGGCTCAGACC
ACAGGGGCCTGGATCATCACAGGGGGGTCCCACACCGGCGTCATGAAGCAGGTAGGCGAG
GCGGTGCGGGACTTCAGCCTGAGCAGCAGCTACAAGGAAGGCGAGCTCATCACCATCGGA
GTCGCCACCTGGGGCACTGTCCACCGCCGCGAGGGCCTGATCCATCCCACGGGCAGCTTC
CCCGCCGAGTACATACTGGATGAGGATGGCCAAGGGAACCTGACCTGCCTAGACAGCAAC
CACTCTCACTTCATCCTCGTGGACGACGGGACCCACGGCCAGTACGGGGTGGAGATTCCT
CTGAGGACCAGGCTGGAGAAGTTCATATCGGAGCAGACCAAGGAAAGAGGAGGTGTGGCC
ATCAAGATCCCCATCGTGTGCGTGGTGCTGGAGGGCGGCCCGGGCACGTTGCACACCATC
GACAACGCCACCACCAACGGCACCCCCTGTGTGGTTGTGGAGGGCTCGGGCCGCGTGGCC
GACGTCATTGCCCAGGTGGCCAACCTGCCTGTCTCGGACATCACTATCTCCCTGATCCAG
CAGAAACTGAGCGTGTTCTTCCAGGAGATGTTTGAGACCTTCACGGAAAGCAGGATTGTC
GAGTGGACCAAAAAGATCCAAGATATTGTCCGGAGGCGGCAGCTGCTGACTGTCTTCCGG
GAAGGCAAGGATGGTCAGCAGGACGTGGATGTGGCCATCTTGCAGGCCTTGCTGAAAGCC
TCACGGAGCCAAGACCACTTTGGCCACGAGAACTGGGACCACCAGCTGAAACTGGCAGTG
GCATGGAATCGCGTGGACATTGCCCGCAGTGAGATCTTCATGGATGAGTGGCAGTGGAAG
CCTTCAGATCTGCACCCCACGATGACAGCTGCACTCATCTCCAACAAGCCTGAGTTTGTG
AAGCTCTTCCTGGAAAACGGGGTGCAGCTGAAGGAGTTTGTCACCTGGGACACCTTGCTC
TACCTGTACGAGAACCTGGACCCCTCCTGCCTGTTCCACAGCAAGCTGCAAAAGGTGCTG
GTGGAGGATCCCGAGCGCCCGGCTTGCGCGCCCGCGGCGCCCCGCCTGCAGATGCACCAC
GTGGCCCAGGTGCTGCGGGAGCTGCTGGGGGACTTCACGCAGCCGCTTTATCCCCGGCCC
CGGCACAACGACCGGCTGCGGCTCCTGCTGCCCGTTCCCCACGTCAAGCTCAACGTGCAG
GGAGTGAGCCTCCGGTCCCTCTACAAGCGTTCCTCAGGCCATGTGACCTTCACCATGGAC
CCCATCCGTGACCTTCTCATTTGGGCCATTGTCCAGAACCGTCGGGAGCTGGCAGGAATC
ATCTGGGCTCAGAGCCAGGACTGCATCGCAGCGGCCTTGGCCTGCAGCAAGATCCTGAAG
GAACTGTCCAAGGAGGAGGAGGACACGGACAGCTCGGAGGAGATGCTGGCGCTGGCGGAG
GAGTATGAGCACAGAGCCATCGGGGTCTTCACCGAGTGCTACCGGAAGGACGAAGAGAGA
GCCCAGAAACTGCTCACCCGCGTGTCCGAGGCCTGGGGGAAGACCACCTGCCTGCAGCTC
GCCCTGGAGGCCAAGGACATGAAGTTTGTGTCTCACGGGGGCATCCAGGCCTTCCTGACC
AAGGTGTGGTGGGGCCAGCTCTCCGTGGACAATGGGCTGTGGCGTGTGACCCTGTGCATG
CTGGCCTTCCCGCTGCTCCTCACCGGCCTCATCTCCTTCAGGGAGAAGAGGCTGCAGGAT
GTGGGCACCCCCGCGGCCCGCGCCCGTGCCTTCTTCACCGCACCCGTGGTGGTCTTCCAC
CTGAACATCCTCTCCTACTTCGCCTTCCTCTGCCTGTTCGCCTACGTGCTCATGGTGGAC
TTCCAGCCTGTGCCCTCCTGGTGCGAGTGTGCCATCTACCTCTGGCTCTTCTCCTTGGTG
TGCGAGGAGATGCGGCAGCTCTTCTATGACCCTGACGAGTGCGGGCTGATGAAGAAGGCA
GCCTTGTACTTCAGTGACTTCTGGAATAAGCTGGACGTCGGCGCAATCTTGCTCTTCGTG
GCAGGGCTGACCTGCAGGCTCATCCCGGCGACGCTGTACCCCGGGCGCGTCATCCTCTCT
CTGGACTTCATCCTGTTCTGCCTCCGGCTCATGCACATTTTTACCATCAGTAAGACGCTG
GGGCCCAAGATCATCATTGTGAAGCGGATGATGAAGGACGTCTTCTTCTTCCTCTTCCTG
CTGGCTGTGTGGGTGGTGTCCTTCGGGGTGGCCAAGCAGGCCATCCTCATCCACAACGAG
CGCCGGGTGGACTGGCTGTTCCGAGGGGCCGTCTACCACTCCTACCTCACCATCTTCGGG
CAGATCCCGGGCTACATCGACGGTGTGAACTTCAACCCGGAGCACTGCAGCCCCAATGGC
ACCGACCCCTACAAGCCTAAGTGCCCCGAGAGCGACGCGACGCAGCAGAGGCCGGCCTTC
CCTGAGTGGCTGACGGTCCTCCTACTCTGCCTCTACCTGCTCTTCACCAACATCCTGCTG
CTCAACCTCCTCATCGCCATGTTCAACTACACCTTCCAGCAGGTGCAGGAGCACACGGAC
CAGATTTGGAAGTTCCAGCGCCATGACCTGATCGAGGAGTACCACGGCCGCCCCGCCGCG
CCGCCCCCCTTCATCCTCCTCAGCCACCTGCAGCTCTTCATCAAGAGGGTGGTCCTGAAG
ACTCCGGCCAAGAGGCACAAGCAGCTCAAGAACAAGCTGGAGAAGAACGAGGAGGCGGCC
CTGCTATCCTGGGAGATCTACCTGAAGGAGAACTACCTCCAGAACCGACAGTTCCAGCAA
AAGCAGCGGCCCGAGCAGAAGATCGAGGACATCAGCAATAAGGTTGACGCCATGGTGGAC
CTGCTGGACCTGGACCCACTGAAGAGGTCGGGCTCCATGGAGCAGAGGTTGGCCTCCCTG
GAGGAGCAGGTGGCCCAGACAGCCCGAGCCCTGCACTGGATCGTGAGGACGCTGCGGGCC
AGCGGCTTCAGCTCGGAGGCGGACGTCCCCACTCTGGCCTCCCAGAAGGCCGCGGAGGAG
CCGGATGCTGAGCCGGGAGGCAGGAAGAAGACGGAGGAGCCGGGCGACAGCTACCACGTG
AATGCCCGGCACCTCCTCTACCCCAACTGCCCTGTCACGCGCTTCCCCGTGCCCAACGAG
AAGGTGCCCTGGGAGACGGAGTTCCTGATCTATGACCCACCCTTTTACACGGCAGAGAGG
AAGGACGCGGCCGCCATGGACCCCATGGGAGACACCCTGGAGCCACTGTCCACGATCCAG
TACAACGTGGTGGATGGCCTGAGGGACCGCCGGAGCTTCCACGGGCCGTACACAGTGCAG
GCCGGGTTGCCCCTGAACCCCATGGGCCGCACAGGACTGCGTGGGCGCGGGAGCCTCAGC
TGCTTCGGACCCAACCACACGCTGTACCCCATGGTCACGCGGTGGAGGCGGAACGAGGAT
GGAGCCATCTGCAGGAAGAGCATAAAGAAGATGCTGGAAGTGCTGGTGGTGAAGCTCCCT
CTCTCCGAGCACTGGGCCCTGCCTGGGGGCTCCCGGGAGCCAGGGGAGATGCTACCTCGG
AAGCTGAAGCGGATCCTCCGGCAGGAGCACTGGCCGTCTTTTGAAAACTTGCTGAAGTGC
GGCATGGAGGTGTACAAAGGCTACATGGATGACCCGAGGAACACGGACAATGCCTGGATC
GAGACGGTGGCCGTCAGCGTCCACTTCCAGGACCAGAATGACGTGGAGCTGAACAGGCTG
AACTCTAACCTGCACGCCTGCGACTCGGGGGCCTCCATCCGATGGCAGGTGGTGGACAGG
CGCATCCCACTCTATGCGAACCACAAGACCCTCCTCCAGAAGGCAGCCGCTGAGTTCGGG
GCTCACTACTGA
|
| Enzyme 20 GenBank Gene ID |
AB001535  |
| Enzyme 20 GeneCard ID |
TRPM2  |
| Enzyme 20 GenAtlas ID |
TRPM2  |
| Enzyme 20 HGNC ID |
HGNC:12339  |
| Enzyme 20 Chromosome Location |
2 |
| Enzyme 20 Locus |
21q22.3 |
| Enzyme 20 SNPs |
SNPJam Report  |
| Enzyme 20 General References |
- Nagamine K, Kudoh J, Minoshima S, Kawasaki K, Asakawa S, Ito F, Shimizu N: Molecular cloning of a novel putative Ca2+ channel protein (TRPC7) highly expressed in brain. Genomics. 1998 Nov 15;54(1):124-31. [PubMed
]
- Wehage E, Eisfeld J, Heiner I, Jungling E, Zitt C, Luckhoff A: Activation of the cation channel long transient receptor potential channel 2 (LTRPC2) by hydrogen peroxide. A splice variant reveals a mode of activation independent of ADP-ribose. J Biol Chem. 2002 Jun 28;277(26):23150-6. Epub 2002 Apr 17. [PubMed
]
- Zhang W, Chu X, Tong Q, Cheung JY, Conrad K, Masker K, Miller BA: A novel TRPM2 isoform inhibits calcium influx and susceptibility to cell death. J Biol Chem. 2003 May 2;278(18):16222-9. Epub 2003 Feb 19. [PubMed
]
- Uemura T, Kudoh J, Noda S, Kanba S, Shimizu N: Characterization of human and mouse TRPM2 genes: identification of a novel N-terminal truncated protein specifically expressed in human striatum. Biochem Biophys Res Commun. 2005 Mar 25;328(4):1232-43. [PubMed
]
- Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS, Toyoda A, Ishii K, Totoki Y, Choi DK, Groner Y, Soeda E, Ohki M, Takagi T, Sakaki Y, Taudien S, Blechschmidt K, Polley A, Menzel U, Delabar J, Kumpf K, Lehmann R, Patterson D, Reichwald K, Rump A, Schillhabel M, Schudy A, Zimmermann W, Rosenthal A, Kudoh J, Schibuya K, Kawasaki K, Asakawa S, Shintani A, Sasaki T, Nagamine K, Mitsuyama S, Antonarakis SE, Minoshima S, Shimizu N, Nordsiek G, Hornischer K, Brant P, Scharfe M, Schon O, Desario A, Reichelt J, Kauer G, Blocker H, Ramser J, Beck A, Klages S, Hennig S, Riesselmann L, Dagand E, Haaf T, Wehrmeyer S, Borzym K, Gardiner K, Nizetic D, Francis F, Lehrach H, Reinhardt R, Yaspo ML: The DNA sequence of human chromosome 21. Nature. 2000 May 18;405(6784):311-9. [PubMed
]
- Perraud AL, Fleig A, Dunn CA, Bagley LA, Launay P, Schmitz C, Stokes AJ, Zhu Q, Bessman MJ, Penner R, Kinet JP, Scharenberg AM: ADP-ribose gating of the calcium-permeable LTRPC2 channel revealed by Nudix motif homology. Nature. 2001 May 31;411(6837):595-9. [PubMed
]
- Sano Y, Inamura K, Miyake A, Mochizuki S, Yokoi H, Matsushime H, Furuichi K: Immunocyte Ca2+ influx system mediated by LTRPC2. Science. 2001 Aug 17;293(5533):1327-30. [PubMed
]
- Hara Y, Wakamori M, Ishii M, Maeno E, Nishida M, Yoshida T, Yamada H, Shimizu S, Mori E, Kudoh J, Shimizu N, Kurose H, Okada Y, Imoto K, Mori Y: LTRPC2 Ca2+-permeable channel activated by changes in redox status confers susceptibility to cell death. Mol Cell. 2002 Jan;9(1):163-73. [PubMed
]
- Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M: Lysine acetylation targets protein complexes and co-regulates major cellular functions. Science. 2009 Aug 14;325(5942):834-40. Epub 2009 Jul 16. [PubMed
]
|
| Enzyme 20 Metabolite References |
Not Available |
|
Enzyme 21
[top]
|
| Enzyme 21 ID |
7522 |
| Enzyme 21 Name |
Sodium/nucleoside cotransporter 2 |
| Enzyme 21 Synonyms |
- Concentrative nucleoside transporter 2
- CNT 2
- hCNT2
- Na(+)/nucleoside cotransporter 2
- Sodium-coupled nucleoside transporter 2
- Sodium/purine nucleoside co-transporter
- SPNT
- Solute carrier family 28 member 2
|
| Enzyme 21 Gene Name |
SLC28A2 |
| Enzyme 21 Protein Sequence |
>Sodium/nucleoside cotransporter 2
MEKASGRQSIALSTVETGTVNPGLELMEKEVEPEGSKRTDAQGHSLGDGLGPSTYQRRSR
WPFSKARSFCKTHASLFKKILLGLLCLAYAAYLLAACILNFQRALALFVITCLVIFVLVH
SFLKKLLGKKLTRCLKPFENSRLRLWTKWVFAGVSLVGLILWLALDTAQRPEQLIPFAGI
CMFILILFACSKHHSAVSWRTVFSGLGLQFVFGILVIRTDLGYTVFQWLGEQVQIFLNYT
VAGSSFVFGDTLVKDVFAFQALPIIIFFGCVVSILYYLGLVQWVVQKVAWFLQITMGTTA
TETLAVAGNIFVGMTEAPLLIRPYLGDMTLSEIHAVMTGGFATISGTVLGAFIAFGVDAS
SLISASVMAAPCALASSKLAYPEVEESKFKSEEGVKLPRGKERNVLEAASNGAVDAIGLA
TNVAANLIAFLAVLAFINAALSWLGELVDIQGLTFQVICSYLLRPMVFMMGVEWTDCPMV
AEMVGIKFFINEFVAYQQLSQYKNKRLSGMEEWIEGEKQWISVRAEIITTFSLCGFANLS
SIGITLGGLTSIVPHRKSDLSKVVVRALFTGACVSLISACMAGILYVPRGAEADCVSFPN
TSFTNRTYETYMCCRGLFQSTSLNGTNPPSFSGPWEDKEFSAMALTNCCGFYNNTVCA
|
| Enzyme 21 Number of Residues |
658 |
| Enzyme 21 Molecular Weight |
71925.6 |
| Enzyme 21 Theoretical pI |
8.00 |
| Enzyme 21 GO Classification |
| Function |
- binding
- nucleobase, nucleoside, nucleotide and nucleic acid transmembrane transporter activity
- nucleoside binding
- nucleoside transmembrane transporter activity
- nucleoside:sodium symporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- transport
|
| Component |
|
|
| Enzyme 21 General Function |
Involved in nucleoside:sodium symporter activity |
| Enzyme 21 Specific Function |
Sodium-dependent and purine-selective transporter. Exhibits the transport characteristics of the nucleoside transport system cif or N1 subtype (N1/cif) (selective for purine nucleosides and uridine). Plays a critical role in specific uptake and salvage of purine nucleosides in kidney and other tissues |
| Enzyme 21 Pathways |
Not Available |
| Enzyme 21 Reactions |
Not Available |
| Enzyme 21 Pfam Domain Function |
|
| Enzyme 21 Signals |
|
| Enzyme 21 Transmembrane Regions |
- 80-100
104-123
148-166
172-192
200-220
233-253
260-280
295-314
336-355
362-381
423-443
454-474
529-549
567-587
|
| Enzyme 21 Essentiality |
Not Available |
| Enzyme 21 GenBank ID Protein |
2665908  |
| Enzyme 21 UniProtKB/Swiss-Prot ID |
O43868  |
| Enzyme 21 UniProtKB/Swiss-Prot Entry Name |
S28A2_HUMAN  |
| Enzyme 21 PDB ID |
Not Available |
| Enzyme 21 Cellular Location |
Not Available |
| Enzyme 21 Gene Sequence |
>1977 bp
ATGGAGAAAGCAAGTGGAAGACAGTCCATTGCTCTGTCCACAGTGGAGACTGGCACAGTG
AACCCGGGGCTGGAGCTCATGGAAAAAGAAGTAGAGCCTGAGGGAAGCAAGAGGACTGAC
GCACAAGGACACAGCCTGGGGGATGGACTGGGCCCTTCCACTTACCAGAGGAGGAGTCGG
TGGCCTTTCAGCAAAGCAAGAAGTTTCTGCAAAACACACGCCAGCTTGTTCAAGAAGATC
CTGTTGGGCCTGTTGTGTTTGGCCTATGCTGCCTATCTCCTGGCAGCTTGCATCTTGAAT
TTCCAGAGGGCACTGGCCTTGTTTGTCATCACCTGCTTGGTGATCTTTGTCCTGGTTCAC
TCGTTTTTGAAAAAGCTCCTGGGCAAAAAATTAACAAGATGTCTGAAGCCCTTTGAAAAC
TCCCGCCTGAGGCTTTGGACGAAATGGGTGTTTGCAGGAGTCTCCTTGGTTGGCCTTATA
CTGTGGTTGGCTTTAGACACAGCCCAAAGGCCAGAGCAGCTGATCCCCTTTGCAGGAATC
TGCATGTTCATCCTTATCCTCTTTGCCTGCTCCAAACACCACAGCGCAGTGTCCTGGAGG
ACAGTGTTTTCGGGCCTAGGTCTTCAATTTGTCTTTGGGATCTTGGTCATCAGAACTGAT
CTTGGATATACTGTATTTCAGTGGCTGGGAGAGCAGGTCCAGATTTTCCTGAACTACACT
GTGGCCGGCTCCAGTTTTGTCTTTGGGGATACACTGGTCAAGGATGTCTTTGCTTTTCAG
GCCTTACCAATCATCATTTTCTTTGGATGTGTGGTGTCCATTCTCTACTACCTGGGCCTT
GTGCAATGGGTAGTTCAGAAGGTCGCCTGGTTTTTACAAATCACTATGGGCACCACTGCT
ACAGAGACCCTGGCTGTGGCAGGAAACATCTTTGTGGGTATGACAGAGGCACCTCTGCTC
ATCCGTCCCTACCTTGGGGACATGACACTCTCTGAAATCCATGCGGTGATGACTGGAGGG
TTTGCCACCATTTCTGGCACTGTGCTGGGAGCCTTCATAGCCTTTGGGGTTGATGCATCA
TCCCTGATTTCTGCCTCTGTGATGGCCGCCCCTTGTGCTCTCGCCTCATCAAAGCTAGCG
TATCCGGAAGTGGAGGAGTCCAAGTTCAAGAGTGAGGAGGGGGTAAAGCTGCCCCGTGGG
AAGGAGAGGAATGTCCTGGAAGCTGCCAGCAACGGAGCCGTAGATGCCATAGGCCTTGCT
ACTAATGTAGCAGCCAACCTGATTGCCTTTTTGGCTGTGTTGGCCTTCATCAATGCTGCC
CTCTCCTGGCTGGGGGAATTGGTGGACATACAGGGGCTCACTTTCCAGGTCATCTGCTCC
TATCTCCTAAGGCCCATGGTTTTCATGATGGGTGTAGAATGGACAGACTGTCCAATGGTG
GCTGAGATGGTGGGAATCAAGTTCTTCATAAATGAATTTGTTGCTTATCAGCAACTGTCT
CAATACAAGAACAAACGTCTCTCTGGAATGGAGGAGTGGATTGAGGGAGAGAAACAGTGG
ATTTCTGTGAGAGCTGAAATCATTACAACATTTTCACTCTGTGGATTTGCCAATCTTAGT
TCCATAGGAATCACACTTGGAGGCTTGACATCAATAGTACCTCACCGGAAGAGTGACTTG
TCCAAGGTTGTGGTCAGGGCCCTCTTCACAGGGGCCTGTGTATCCCTTATCAGTGCCTGT
ATGGCAGGAATCCTCTATGTCCCCAGGGGAGCTGAAGCTGACTGTGTCTCCTTCCCAAAC
ACAAGTTTCACCAATAGAACCTATGAGACCTACATGTGCTGCAGAGGGCTCTTTCAGAGT
ACTTCTCTGAATGGCACCAACCCTCCTTCTTTTTCTGGTCCCTGGGAAGATAAGGAGTTC
AGTGCTATGGCCCTTACTAACTGCTGTGGATTCTACAACAATACCGTCTGTGCCTGA
|
| Enzyme 21 GenBank Gene ID |
AF036109  |
| Enzyme 21 GeneCard ID |
SLC28A2  |
| Enzyme 21 GenAtlas ID |
SLC28A2  |
| Enzyme 21 HGNC ID |
HGNC:11002  |
| Enzyme 21 Chromosome Location |
1 |
| Enzyme 21 Locus |
15q15 |
| Enzyme 21 SNPs |
SNPJam Report  |
| Enzyme 21 General References |
- Wang J, Su SF, Dresser MJ, Schaner ME, Washington CB, Giacomini KM: Na(+)-dependent purine nucleoside transporter from human kidney: cloning and functional characterization. Am J Physiol. 1997 Dec;273(6 Pt 2):F1058-65. [PubMed
]
- Ritzel MW, Yao SY, Ng AM, Mackey JR, Cass CE, Young JD: Molecular cloning, functional expression and chromosomal localization of a cDNA encoding a human Na+/nucleoside cotransporter (hCNT2) selective for purine nucleosides and uridine. Mol Membr Biol. 1998 Oct-Dec;15(4):203-11. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Loewen SK, Ng AM, Yao SY, Cass CE, Baldwin SA, Young JD: Identification of amino acid residues responsible for the pyrimidine and purine nucleoside specificities of human concentrative Na(+) nucleoside cotransporters hCNT1 and hCNT2. J Biol Chem. 1999 Aug 27;274(35):24475-84. [PubMed
]
- Owen RP, Gray JH, Taylor TR, Carlson EJ, Huang CC, Kawamoto M, Johns SJ, Stryke D, Ferrin TE, Giacomini KM: Genetic analysis and functional characterization of polymorphisms in the human concentrative nucleoside transporter, CNT2. Pharmacogenet Genomics. 2005 Feb;15(2):83-90. [PubMed
]
- Li L, Tan CM, Koo SH, Chong KT, Lee EJ: Identification and functional analysis of variants in the human concentrative nucleoside transporter 2, hCNT2 (SLC28A2) in Chinese, Malays and Indians. Pharmacogenet Genomics. 2007 Sep;17(9):783-6. [PubMed
]
|
| Enzyme 21 Metabolite References |
Not Available |
|
Enzyme 22
[top]
|
| Enzyme 22 ID |
7637 |
| Enzyme 22 Name |
Sodium-dependent noradrenaline transporter |
| Enzyme 22 Synonyms |
- Norepinephrine transporter
- NET
- Solute carrier family 6 member 2
|
| Enzyme 22 Gene Name |
SLC6A2 |
| Enzyme 22 Protein Sequence |
>Sodium-dependent noradrenaline transporter
MLLARMNPQVQPENNGADTGPEQPLRARKTAELLVVKERNGVQCLLAPRDGDAQPRETWG
KKIDFLLSVVGFAVDLANVWRFPYLCYKNGGGAFLIPYTLFLIIAGMPLFYMELALGQYN
REGAATVWKICPFFKGVGYAVILIALYVGFYYNVIIAWSLYYLFSSFTLNLPWTDCGHTW
NSPNCTDPKLLNGSVLGNHTKYSKYKFTPAAEFYERGVLHLHESSGIHDIGLPQWQLLLC
LMVVVIVLYFSLWKGVKTSGKVVWITATLPYFVLFVLLVHGVTLPGASNGINAYLHIDFY
RLKEATVWIDAATQIFFSLGAGFGVLIAFASYNKFDNNCYRDALLTSSINCITSFVSGFA
IFSILGYMAHEHKVNIEDVATEGAGLVFILYPEAISTLSGSTFWAVVFFVMLLALGLDSS
MGGMEAVITGLADDFQVLKRHRKLFTFGVTFSTFLLALFCITKGGIYVLTLLDTFAAGTS
ILFAVLMEAIGVSWFYGVDRFSNDIQQMMGFRPGLYWRLCWKFVSPAFLLFVVVVSIINF
KPLTYDDYIFPPWANWVGWGIALSSMVLVPIYVIYKFLSTQGSLWERLAYGITPENEHHL
VAQRDIRQFQLQHWLAI
|
| Enzyme 22 Number of Residues |
617 |
| Enzyme 22 Molecular Weight |
69331.4 |
| Enzyme 22 Theoretical pI |
7.53 |
| Enzyme 22 GO Classification |
| Function |
- neurotransmitter transporter activity
- neurotransmitter:sodium symporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- neurotransmitter transport
- transport
|
| Component |
- cell part
- integral to membrane
- integral to plasma membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 22 General Function |
Involved in neurotransmitter:sodium symporter activity |
| Enzyme 22 Specific Function |
Amine transporter. Terminates the action of noradrenaline by its high affinity sodium-dependent reuptake into presynaptic terminals |
| Enzyme 22 Pathways |
Not Available |
| Enzyme 22 Reactions |
Not Available |
| Enzyme 22 Pfam Domain Function |
|
| Enzyme 22 Signals |
|
| Enzyme 22 Transmembrane Regions |
- 65-85
93-112
136-156
235-253
262-279
315-332
344-365
398-417
444-462
478-498
519-538
557-575
|
| Enzyme 22 Essentiality |
Not Available |
| Enzyme 22 GenBank ID Protein |
Not Available |
| Enzyme 22 UniProtKB/Swiss-Prot ID |
P23975  |
| Enzyme 22 UniProtKB/Swiss-Prot Entry Name |
SC6A2_HUMAN  |
| Enzyme 22 PDB ID |
Not Available |
| Enzyme 22 Cellular Location |
Not Available |
| Enzyme 22 Gene Sequence |
>1854 bp
ATGCTTCTGGCGCGGATGAACCCGCAGGTGCAGCCCGAGAACAACGGGGCGGACACGGGT
CCAGAGCAGCCCCTTCGGGCGCGCAAAACTGCGGAGCTGCTGGTGGTGAAGGAGCGCAAC
GGCGTCCAGTGCCTGCTGGCGCCCCGCGACGGCGACGCGCAGCCCCGGGAGACCTGGGGC
AAGAAGATCGACTTCCTGCTGTCCGTAGTCGGCTTCGCAGTGGACCTGGCCAACGTGTGG
CGCTTCCCCTACCTCTGCTACAAGAACGGCGGCGGTGCCTTCTTGATCCCGTACACACTG
TTCCTTATCATCGCGGGGATGCCCCTGTTCTACATGGAGCTGGCTCTGGGACAGTACAAC
CGGGAGGGGGCTGCCACCGTTTGGAAAATCTGCCCATTCTTCAAAGGCGTTGGCTATGCT
GTCATCCTGATCGCCCTGTACGTTGGCTTCTACTACAACGTCATCATCGCCTGGTCACTC
TACTACCTCTTCTCCTCCTTCACCCTCAACCTGCCCTGGACCGACTGTGGCCACACCTGG
AACAGCCCCAACTGTACCGACCCCAAGCTCCTCAATGGCTCCGTGCTTGGCAACCACACC
AAGTACTCCAAGTACAAGTTCACGCCGGCAGCCGAGTTTTATGAGCGTGGTGTCCTGCAC
CTTCACGAGAGCAGCGGGATTCATGACATCGGCCTGCCCCAGTGGCAGCTCTTGCTCTGT
CTGATGGTCGTCGTCATCGTCTTGTATTTTAGCCTCTGGAAAGGGGTGAAGACATCAGGA
AAGGTGGTGTGGATCACAGCCACGCTGCCTTACTTCGTGCTGTTCGTGCTCCTGGTCCAT
GGCGTCACGCTGCCCGGAGCCTCCAATGGCATCAATGCCTACCTGCACATCGACTTCTAC
CGCTTGAAAGAGGCCACGGTATGGATTGATGCCGCAACTCAGATATTTTTTTCCTTGGGG
GCTGGATTTGGAGTATTGATTGCATTTGCCAGTTACAACAAATTTGACAACAACTGTTAC
AGGGATGCCCTGCTGACCAGCAGCATCAACTGTATCACCAGCTTCGTCTCTGGGTTCGCC
ATCTTCTCCATCCTTGGTTACATGGCCCATGAACACAAGGTCAACATTGAGGATGTGGCC
ACAGAAGGAGCTGGCCTAGTGTTCATCCTGTATCCAGAGGCCATTTCTACCCTGTCTGGA
TCTACATTCTGGGCTGTTGTGTTTTTCGTCATGCTCCTGGCGCTGGGCCTTGACAGCTCA
ATGGGAGGCATGGAGGCTGTCATCACGGGCCTGGCAGATGACTTCCAGGTCCTGAAGCGA
CACCGGAAACTCTTCACATTTGGCGTCACCTTCAGCACTTTCCTTCTCGCCCTGTTCTGC
ATAACCAAGGGTGGAATTTACGTCTTGACCCTCCTGGACACCTTTGCTGCGGGCACCTCC
ATCCTTTTTGCTGTCCTCATGGAAGCCATCGGAGTTTCCTGGTTTTATGGAGTGGACAGG
TTCAGCAACGACATCCAGCAGATGATGGGGTTCAGGCCGGGTCTATACTGGAGACTGTGC
TGGAAGTTCGTCAGTCCTGCCTTCCTCCTGTTCGTGGTTGTGGTCAGCATCATCAACTTC
AAGCCACTCACCTACGACGACTACATCTTCCCGCCCTGGGCCAACTGGGTGGGGTGGGGC
ATCGCCCTGTCCTCCATGGTCCTGGTGCCCATCTACGTCATCTATAAGTTCCTCAGCACG
CAGGGCTCTCTTTGGGAGAGACTGGCCTATGGCATCACGCCAGAGAACGAGCACCACCTG
GTGGCTCAGAGGGACATCAGACAGTTCCAGTTGCAACACTGGCTGGCCATCTGA
|
| Enzyme 22 GenBank Gene ID |
M65105  |
| Enzyme 22 GeneCard ID |
SLC6A2  |
| Enzyme 22 GenAtlas ID |
SLC6A2  |
| Enzyme 22 HGNC ID |
HGNC:11048  |
| Enzyme 22 Chromosome Location |
1 |
| Enzyme 22 Locus |
16q12.2 |
| Enzyme 22 SNPs |
SNPJam Report  |
| Enzyme 22 General References |
- Pacholczyk T, Blakely RD, Amara SG: Expression cloning of a cocaine- and antidepressant-sensitive human noradrenaline transporter. Nature. 1991 Mar 28;350(6316):350-4. [PubMed
]
- Porzgen P, Bonisch H, Bruss M: Molecular cloning and organization of the coding region of the human norepinephrine transporter gene. Biochem Biophys Res Commun. 1995 Oct 24;215(3):1145-50. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Torres GE, Yao WD, Mohn AR, Quan H, Kim KM, Levey AI, Staudinger J, Caron MG: Functional interaction between monoamine plasma membrane transporters and the synaptic PDZ domain-containing protein PICK1. Neuron. 2001 Apr;30(1):121-34. [PubMed
]
- Shannon JR, Flattem NL, Jordan J, Jacob G, Black BK, Biaggioni I, Blakely RD, Robertson D: Orthostatic intolerance and tachycardia associated with norepinephrine-transporter deficiency. N Engl J Med. 2000 Feb 24;342(8):541-9. [PubMed
]
|
| Enzyme 22 Metabolite References |
Not Available |
|
Enzyme 23
[top]
|
| Enzyme 23 ID |
7649 |
| Enzyme 23 Name |
Sodium-dependent serotonin transporter |
| Enzyme 23 Synonyms |
- 5HT transporter
- 5HTT
- Solute carrier family 6 member 4
|
| Enzyme 23 Gene Name |
SLC6A4 |
| Enzyme 23 Protein Sequence |
>Sodium-dependent serotonin transporter
METTPLNSQKQLSACEDGEDCQENGVLQKVVPTPGDKVESGQISNGYSAVPSPGAGDDTR
HSIPATTTTLVAELHQGERETWGKKVDFLLSVIGYAVDLGNVWRFPYICYQNGGGAFLLP
YTIMAIFGGIPLFYMELALGQYHRNGCISIWRKICPIFKGIGYAICIIAFYIASYYNTIM
AWALYYLISSFTDQLPWTSCKNSWNTGNCTNYFSEDNITWTLHSTSPAEEFYTRHVLQIH
RSKGLQDLGGISWQLALCIMLIFTVIYFSIWKGVKTSGKVVWVTATFPYIILSVLLVRGA
TLPGAWRGVLFYLKPNWQKLLETGVWIDAAAQIFFSLGPGFGVLLAFASYNKFNNNCYQD
ALVTSVVNCMTSFVSGFVIFTVLGYMAEMRNEDVSEVAKDAGPSLLFITYAEAIANMPAS
TFFAIIFFLMLITLGLDSTFAGLEGVITAVLDEFPHVWAKRRERFVLAVVITCFFGSLVT
LTFGGAYVVKLLEEYATGPAVLTVALIEAVAVSWFYGITQFCRDVKEMLGFSPGWFWRIC
WVAISPLFLLFIICSFLMSPPQLRLFQYNYPYWSIILGYCIGTSSFICIPTYIAYRLIIT
PGTFKERIIKSITPETPTEIPCGDIRLNAV
|
| Enzyme 23 Number of Residues |
630 |
| Enzyme 23 Molecular Weight |
70324.2 |
| Enzyme 23 Theoretical pI |
6.17 |
| Enzyme 23 GO Classification |
| Function |
- neurotransmitter transporter activity
- neurotransmitter:sodium symporter activity
- serotonin:sodium symporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- neurotransmitter transport
- transport
|
| Component |
- cell part
- integral to membrane
- integral to plasma membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 23 General Function |
Involved in neurotransmitter:sodium symporter activity |
| Enzyme 23 Specific Function |
Serotonin transporter whose primary function in the central nervous system involves the regulation of serotonergic signaling via transport of serotonin molecules from the synaptic cleft back into the pre-synaptic terminal for re-utilization. Plays a key role in mediating regulation of the availability of serotonin to other receptors of serotonergic systems. Terminates the action of serotonin and recycles it in a sodium-dependent manner |
| Enzyme 23 Pathways |
Not Available |
| Enzyme 23 Reactions |
Not Available |
| Enzyme 23 Pfam Domain Function |
|
| Enzyme 23 Signals |
|
| Enzyme 23 Transmembrane Regions |
- 88-108
116-135
160-180
253-271
280-297
333-350
362-383
417-436
464-482
498-518
539-558
577-595
|
| Enzyme 23 Essentiality |
Not Available |
| Enzyme 23 GenBank ID Protein |
36433  |
| Enzyme 23 UniProtKB/Swiss-Prot ID |
P31645  |
| Enzyme 23 UniProtKB/Swiss-Prot Entry Name |
SC6A4_HUMAN  |
| Enzyme 23 PDB ID |
Not Available |
| Enzyme 23 Cellular Location |
Not Available |
| Enzyme 23 Gene Sequence |
>1893 bp
ATGGAGACGACGCCCTTGAATTCTCAGAAGCAGCTATCAGCGTGTGAAGATGGAGAAGAT
TGTCAGGAAAACGGAGTTCTACAGAAGGTTGTTCCCACCCCAGGGGACAAAGTGGAGTCC
GGGCAAATATCCAATGGGTACTCAGCAGTTCCAAGTCCTGGTGCGGGAGATGACACACGG
CACTCTATCCCAGCGACCACCACCACCCTAGTGGCTGAGCTTCATCAAGGGGAACGGGAG
ACCTGGGGCAAGAAGGTGGATTTCCTTCTCTCAGTGATTGGCTATGCTGTGGACCTGGGC
AATGTCTGGCGCTTCCCCTACATATGTTACCAGAATGGAGGGGGGGCATTCCTCCTCCCC
TACACCATCATGGCCATTTTTGGGGGAATCCCGCTCTTTTACATGGAGCTCGCACTGGGA
CAGTACCACCGAAATGGATGCATTTCAATATGGAGGAAAATCTGCCCGATTTTCAAAGGG
ATTGGTTATGCCATCTGCATCATTGCCTTTTACATTGCTTCCTACTACAACACCATCATG
GCCTGGGCGCTATACTACCTCATCTCCTCCTTCACGGACCAGCTGCCCTGGACCAGCTGC
AAGAACTCCTGGAACACTGGCAACTGCACCAATTACTTCTCCGAGGACAACATCACCTGG
ACCCTCCATTCCACGTCCCCTGCTGAAGAATTTTACACGCGCCACGTCCTGCAGATCCAC
CGGTCTAAGGGGCTCCAGGACCTGGGGGGCATCAGCTGGCAGCTGGCCCTCTGCATCATG
CTGATCTTCACTGTTATCTACTTCAGCATCTGGAAAGGCGTCAAGACCTCTGGCAAGGTG
GTGTGGGTGACAGCCACCTTCCCTTATATCATCCTTTCTGTCCTGCTGGTGAGGGGTGCC
ACCCTCCCTGGAGCCTGGAGGGGTGTTCTCTTCTACTTGAAACCCAATTGGCAGAAACTC
CTGGAGACAGGGGTGTGGATAGATGCAGCCGCTCAGATCTTCTTCTCTCTTGGTCCGGGC
TTTGGGGTCCTGCTGGCTTTTGCTAGCTACAACAAGTTCAACAACAACTGCTACCAAGAT
GCCCTGGTGACCAGCGTGGTGAACTGCATGACGAGCTTCGTTTCGGGATTTGTCATCTTC
ACAGTGCTCGGTTACATGGCTGAGATGAGGAATGAAGATGTGTCTGAGGTGGCCAAAGAC
GCAGGTCCCAGCCTCCTCTTCATCACGTATGCAGAAGCGATAGCCAACATGCCAGCGTCC
ACTTTCTTTGCCATCATCTTCTTTCTGATGTTAATCACGCTGGGCTTGGACAGCACGTTT
GCAGGCTTGGAGGGGGTGATCACGGCTGTGCTGGATGAGTTCCCACACGTCTGGGCCAAG
CGCCGGGAGCGGTTCGTGCTCGCCGTGGTCATCACCTGCTTCTTTGGATCCCTGGTCACC
CTGACTTTTGGAGGGGCCTACGTGGTGAAGCTGCTGGAGGAGTATGCCACGGGGCCCGCA
GTGCTCACTGTCGCGCTGATCGAAGCAGTCGCTGTGTCTTGGTTCTATGGCATCACTCAG
TTCTGCAGGGACGTGAAGGAAATGCTCGGCTTCAGCCCGGGGTGGTTCTGGAGGATCTGC
TGGGTGGCCATCAGCCCTCTGTTTCTCCTGTTCATCATTTGCAGTTTTCTGATGAGCCCG
CCACAACTACGACTTTTCCAATATAATTATCCTTACTGGAGTATCATCTTGGGTTACTGC
ATAGGAACCTCATCTTTCATTTGCATCCCCACATATATAGCTTATCGGTTGATCATCACT
CCAGGGACATTTAAAGAGCGTATTATTAAAAGTATTACCCCGGAGACACCAACAGAAATT
CCTTGTGGGGACATCCGCTTGAATGCTGTGTAA
|
| Enzyme 23 GenBank Gene ID |
X70697  |
| Enzyme 23 GeneCard ID |
SLC6A4  |
| Enzyme 23 GenAtlas ID |
SLC6A4  |
| Enzyme 23 HGNC ID |
HGNC:11050  |
| Enzyme 23 Chromosome Location |
1 |
| Enzyme 23 Locus |
17q11.2 |
| Enzyme 23 SNPs |
SNPJam Report  |
| Enzyme 23 General References |
- Lesch KP, Wolozin BL, Estler HC, Murphy DL, Riederer P: Isolation of a cDNA encoding the human brain serotonin transporter. J Neural Transm Gen Sect. 1993;91(1):67-72. [PubMed
]
- Ramamoorthy S, Bauman AL, Moore KR, Han H, Yang-Feng T, Chang AS, Ganapathy V, Blakely RD: Antidepressant- and cocaine-sensitive human serotonin transporter: molecular cloning, expression, and chromosomal localization. Proc Natl Acad Sci U S A. 1993 Mar 15;90(6):2542-6. [PubMed
]
- Lesch KP, Wolozin BL, Murphy DL, Reiderer P: Primary structure of the human platelet serotonin uptake site: identity with the brain serotonin transporter. J Neurochem. 1993 Jun;60(6):2319-22. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Carneiro AM, Blakely RD: Serotonin-, protein kinase C-, and Hic-5-associated redistribution of the platelet serotonin transporter. J Biol Chem. 2006 Aug 25;281(34):24769-80. Epub 2006 Jun 27. [PubMed
]
- Muller HK, Wiborg O, Haase J: Subcellular redistribution of the serotonin transporter by secretory carrier membrane protein 2. J Biol Chem. 2006 Sep 29;281(39):28901-9. Epub 2006 Jul 26. [PubMed
]
- Brenner B, Harney JT, Ahmed BA, Jeffus BC, Unal R, Mehta JL, Kilic F: Plasma serotonin levels and the platelet serotonin transporter. J Neurochem. 2007 Jul;102(1):206-15. Epub 2007 May 15. [PubMed
]
- Ahmed BA, Jeffus BC, Bukhari SI, Harney JT, Unal R, Lupashin VV, van der Sluijs P, Kilic F: Serotonin transamidates Rab4 and facilitates its binding to the C terminus of serotonin transporter. J Biol Chem. 2008 Apr 4;283(14):9388-98. Epub 2008 Jan 28. [PubMed
]
- Ahmed BA, Bukhari IA, Jeffus BC, Harney JT, Thyparambil S, Ziu E, Fraer M, Rusch NJ, Zimniak P, Lupashin V, Tang D, Kilic F: The cellular distribution of serotonin transporter is impeded on serotonin-altered vimentin network. PLoS One. 2009;4(3):e4730. Epub 2009 Mar 9. [PubMed
]
- Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES: Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet. 1999 Jul;22(3):231-8. [PubMed
]
- Ozaki N, Goldman D, Kaye WH, Plotnicov K, Greenberg BD, Lappalainen J, Rudnick G, Murphy DL: Serotonin transporter missense mutation associated with a complex neuropsychiatric phenotype. Mol Psychiatry. 2003 Nov;8(11):933-6. [PubMed
]
- Kilic F, Murphy DL, Rudnick G: A human serotonin transporter mutation causes constitutive activation of transport activity. Mol Pharmacol. 2003 Aug;64(2):440-6. [PubMed
]
- Caspi A, Sugden K, Moffitt TE, Taylor A, Craig IW, Harrington H, McClay J, Mill J, Martin J, Braithwaite A, Poulton R: Influence of life stress on depression: moderation by a polymorphism in the 5-HTT gene. Science. 2003 Jul 18;301(5631):386-9. [PubMed
]
- Feinn R, Nellissery M, Kranzler HR: Meta-analysis of the association of a functional serotonin transporter promoter polymorphism with alcohol dependence. Am J Med Genet B Neuropsychiatr Genet. 2005 Feb 5;133B(1):79-84. [PubMed
]
|
| Enzyme 23 Metabolite References |
Not Available |
|
Enzyme 24
[top]
|
| Enzyme 24 ID |
7717 |
| Enzyme 24 Name |
Transient receptor potential cation channel subfamily M member 8 |
| Enzyme 24 Synonyms |
- Long transient receptor potential channel 6
- LTrpC-6
- LTrpC6
- Transient receptor potential p8
- Trp-p8
|
| Enzyme 24 Gene Name |
TRPM8 |
| Enzyme 24 Protein Sequence |
>Transient receptor potential cation channel subfamily M member 8
MSFRAARLSMRNRRNDTLDSTRTLYSSASRSTDLSYSESDLVNFIQANFKKRECVFFTKD
SKATENVCKCGYAQSQHMEGTQINQSEKWNYKKHTKEFPTDAFGDIQFETLGKKGKYIRL
SCDTDAEILYELLTQHWHLKTPNLVISVTGGAKNFALKPRMRKIFSRLIYIAQSKGAWIL
TGGTHYGLMKYIGEVVRDNTISRSSEENIVAIGIAAWGMVSNRDTLIRNCDAEGYFLAQY
LMDDFTRDPLYILDNNHTHLLLVDNGCHGHPTVEAKLRNQLEKYISERTIQDSNYGGKIP
IVCFAQGGGKETLKAINTSIKNKIPCVVVEGSGQIADVIASLVEVEDALTSSAVKEKLVR
FLPRTVSRLPEEETESWIKWLKEILECSHLLTVIKMEEAGDEIVSNAISYALYKAFSTSE
QDKDNWNGQLKLLLEWNQLDLANDEIFTNDRRWESADLQEVMFTALIKDRPKFVRLFLEN
GLNLRKFLTHDVLTELFSNHFSTLVYRNLQIAKNSYNDALLTFVWKLVANFRRGFRKEDR
NGRDEMDIELHDVSPITRHPLQALFIWAILQNKKELSKVIWEQTRGCTLAALGASKLLKT
LAKVKNDINAAGESEELANEYETRAVELFTECYSSDEDLAEQLLVYSCEAWGGSNCLELA
VEATDQHFIAQPGVQNFLSKQWYGEISRDTKNWKIILCLFIIPLVGCGFVSFRKKPVDKH
KKLLWYYVAFFTSPFVVFSWNVVFYIAFLLLFAYVLLMDFHSVPHPPELVLYSLVFVLFC
DEVRQWYVNGVNYFTDLWNVMDTLGLFYFIAGIVFRLHSSNKSSLYSGRVIFCLDYIIFT
LRLIHIFTVSRNLGPKIIMLQRMLIDVFFFLFLFAVWMVAFGVARQGILRQNEQRWRWIF
RSVIYEPYLAMFGQVPSDVDGTTYDFAHCTFTGNESKPLCVELDEHNLPRFPEWITIPLV
CIYMLSTNILLVNLLVAMFGYTVGTVQENNDQVWKFQRYFLVQEYCSRLNIPFPFIVFAY
FYMVVKKCFKCCCKEKNMESSVCCFKNEDNETLAWEGVMKENYLVKINTKANDTSEEMRH
RFRQLDTKLNDLKGLLKEIANKIK
|
| Enzyme 24 Number of Residues |
1104 |
| Enzyme 24 Molecular Weight |
127684.0 |
| Enzyme 24 Theoretical pI |
7.25 |
| Enzyme 24 GO Classification |
| Function |
- ion channel activity
- ion transmembrane transporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- ion transport
- transmembrane transport
- transport
|
| Component |
|
|
| Enzyme 24 General Function |
Involved in ion channel activity |
| Enzyme 24 Specific Function |
Receptor-activated non-selective cation channel involved in detection of sensations such as coolness, by being activated by cold temperature below 25 degrees Celsius. Activated by icilin, eucalyptol, menthol, cold and modulation of intracellular pH. Involved in menthol sensation. Permeable for monovalent cations sodium, potassium, and cesium and divalent cation calcium. Temperature sensing is tightly linked to voltage-dependent gating. Activated upon depolarization, changes in temperature resulting in graded shifts of its voltage-dependent activation curves. The chemical agonists menthol functions as a gating modifier, shifting activation curves towards physiological membrane potentials. Temperature sensitivity arises from a tenfold difference in the activation energies associated with voltage-dependent opening and closing |
| Enzyme 24 Pathways |
Not Available |
| Enzyme 24 Reactions |
Not Available |
| Enzyme 24 Pfam Domain Function |
|
| Enzyme 24 Signals |
|
| Enzyme 24 Transmembrane Regions |
- 692-712
735-755
760-780
795-815
830-850
959-979
|
| Enzyme 24 Essentiality |
Not Available |
| Enzyme 24 GenBank ID Protein |
20147036  |
| Enzyme 24 UniProtKB/Swiss-Prot ID |
Q7Z2W7  |
| Enzyme 24 UniProtKB/Swiss-Prot Entry Name |
TRPM8_HUMAN  |
| Enzyme 24 PDB ID |
Not Available |
| Enzyme 24 Cellular Location |
Not Available |
| Enzyme 24 Gene Sequence |
>3315 bp
ATGTCCTTTCGGGCAGCCAGGCTCAGCATGAGGAACAGAAGGAATGACACTCTGGACAGC
ACCCGGACCCTGTACTCCAGCGCGTCTCGGAGCACAGACTTGTCTTACAGTGAAAGCGAC
TTGGTGAATTTTATTCAAGCAAATTTTAAGAAACGAGAATGTGTCTTCTTTATCAAAGAT
TCCAAGGCCACGGAGAATGTGTGCAAGTGTGGCTATGCCCAGAGCCAGCACATGGAAGGC
ACCCAGATCAACCAAAGTGAGAAATGGAACTACAAGAAACACACCAAGGAATTTCCTACC
GACGCCTTTGGGGATATTCAGTTTGAGACACTGGGGAAGAAAGGGAAGTATATACGTCTG
TCCTGCGACACGGACGCGGAAATCCTTTACGAGCTGCTGACCCAGCACTGGCACCTGAAA
ACACCCAACCTGGTCATTTCTGTGACCGGGGGCGCCAAGAACTTCGCCCTGAAGCCGCGC
ATGCGCAAGATCTTCAGCCGGCTCATCTACATCGCGCAGTCCAAAGGTGCTTGGATTCTC
ACGGGAGGCACCCATTATGGCCTGATGAAGTACATCGGGGAGGTGGTGAGAGATAACACC
ATCAGCAGGAGTTCAGAGGAGAATATTGTGGCCATTGGCATAGCAGCTTGGGGCATGGTC
TCCAACCGGGACACCCTCATCAGGAATTGCGATGCTGAGGGCTATTTTTTAGCCCAGTAC
CTTATGGATGACTTCACAAGAGATCCACTGTATATCCTGGACAACAACCACACACATTTG
CTGCTCGTGGACAATGGCTGTCATGGACATCCCACTGTCGAAGCAAAGCTCCGGAATCAG
CTAGAGAAGTATATCTCTGAGCGCACTATTCAAGATTCCAACTATGGTGGCAAGATCCCC
ATTGTGTGTTTTGCCCAAGGAGGTGGAAAAGAGACTTTGAAAGCCATCAATACCTCCATC
AAAAATAAAATTCCTTGTGTGGTGGTGGAAGGCTCGGGCCAGATCGCTGATGTGATCGCT
AGCCTGGTGGAGGTGGAGGATGCCCTGACATCTTCTGCCGTCAAGGAGAAGCTGGTGCGC
TTTTTACCCCGCACGGTGTCCCGGCTGCCTGAGGAGGAGACTGAGAGTTGGATCAAATGG
CTCAAAGAAATTCTCGAATGTTCTCACCTATTAACAGTTATTAAAATGGAAGAAGCTGGG
GATGAAATTGTGAGCAATGCCATCTCCTACGCTCTATACAAAGCCTTCAGCACCAGTGAG
CAAGACAAGGATAACTGGAATGGGCAGCTGAAGCTTCTGCTGGAGTGGAACCAGCTGGAC
TTAGCCAATGATGAGATTTTCACCAATGACCGCCGATGGGAGTCTGCTGACCTTCAAGAA
GTCATGTTTACGGCTCTCATAAAGGACAGACCCAAGTTTGTCCGCCTCTTTCTGGAGAAT
GGCTTGAACCTACGGAAGTTTCTCACCCATGATGTCCTCACTGAACTCTTCTCCAACCAC
TTCAGCACGCTTGTGTACCGGAATCTGCAGATCGCCAAGAATTCCTATAATGATGCCCTC
CTCACGTTTGTCTGGAAACTGGTTGCGAACTTCCGAAGAGGCTTCCGGAAGGAAGACAGA
AATGGCCGGGACGAGATGGACATAGAACTCCACGACGTGTCTCCTATTACTCGGCACCCC
CTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATT
TGGGAGCAGACCAGGGGCTGCACTCTGGCAGCCCTGGGAGCCAGCAAGCTTCTGAAGACT
CTGGCCAAAGTGAAGAACGACATCAATGCTGCTGGGGAGTCCGAGGAGCTGGCTAATGAG
TACGAGACCCGGGCTGTTGAGCTGTTCACTGAGTGTTACAGCAGCGATGAAGACTTGGCA
GAACAGCTGCTGGTCTATTCCTGTGAAGCTTGGGGTGGAAGCAACTGTCTGGAGCTGGCG
GTGGAGGCCACAGACCAGCATTTCATCGCCCAGCCTGGGGTCCAGAATTTTCTTTCTAAG
CAATGGTATGGAGAGATTTCCCGAGACACCAAGAACTGGAAGATTATCCTGTGTCTGTTT
ATTATACCCTTGGTGGGCTGTGGCTTTGTATCATTTAGGAAGAAACCTGTCGACAAGCAC
AAGAAGCTGCTTTGGTACTATGTGGCGTTCTTCACCTCCCCCTTCGTGGTCTTCTCCTGG
AATGTGGTCTTCTACATCGCCTTCCTCCTGCTGTTTGCCTACGTGCTGCTCATGGATTTC
CATTCGGTGCCACACCCCCCCGAGCTGGTCCTGTACTCGCTGGTCTTTGTCCTCTTCTGT
GATGAAGTGAGACAGTGGTACGTAAATGGGGTGAATTATTTTACTGACCTGTGGAATGTG
ATGGACACGCTGGGGCTTTTTTACTTCATAGCAGGAATTGTATTTCGGCTCCACTCTTCT
AATAAAAGCTCTTTGTATTCTGGACGAGTCATTTTCTGTCTGGACTACATTATTTTCACT
CTAAGATTGATCCACATTTTTACTGTAAGCAGAAACTTAGGACCCAAGATTATAATGCTG
CAGAGGATGCTGATCGATGTGTTCTTCTTCCTGTTCCTCTTTGCGGTGTGGATGGTGGCC
TTTGGCGTGGCCAGGCAAGGGATCCTTAGGCAGAATGAGCAGCGCTGGAGGTGGATATTC
CGTTCGGTCATCTACGAGCCCTACCTGGCCATGTTCGGCCAGGTGCCCAGTGACGTGGAT
GGTACCACGTATGACTTTGCCCACTGCACCTTCACTGGGAATGAGTCCAAGCCACTGTGT
GTGGAGCTGGATGAGCACAACCTGCCCCGGTTCCCCGAGTGGATCACCATCCCCCTGGTG
TGCATCTACATGTTATCCACCAACATCCTGCTGGTCAACCTGCTGGTCGCCATGTTTGGC
TACACGGTGGGCACCGTCCAGGAGAACAATGACCAGGTCTGGAAGTTCCAGAGGTACTTC
CTGGTGCAGGAGTACTGCAGCCGCCTCAATATCCCCTTCCCCTTCATCGTCTTCGCTTAC
TTCTACATGGTGGTGAAGAAGTGCTTCAAGTGTTGCTGCAAGGAGAAAAACATGGAGTCT
TCTGTCTGCTGTTTCAAAAATGAAGACAATGAGACTCTGGCATGGGAGGGTGTCATGAAG
GAAAACTACCTTGTCAAGATCAACACAAAAGCCAACGACACCTCAGAGGAAATGAGGCAT
CGATTTAGACAACTGGATACAAAGCTTAATGATCTCAAGGGTCTTCTGAAAGAGATTGCT
AATAAAATCAAATAA
|
| Enzyme 24 GenBank Gene ID |
AY090109  |
| Enzyme 24 GeneCard ID |
TRPM8  |
| Enzyme 24 GenAtlas ID |
TRPM8  |
| Enzyme 24 HGNC ID |
HGNC:17961  |
| Enzyme 24 Chromosome Location |
2 |
| Enzyme 24 Locus |
2q37.1 |
| Enzyme 24 SNPs |
SNPJam Report  |
| Enzyme 24 General References |
- Tsavaler L, Shapero MH, Morkowski S, Laus R: Trp-p8, a novel prostate-specific gene, is up-regulated in prostate cancer and other malignancies and shares high homology with transient receptor potential calcium channel proteins. Cancer Res. 2001 May 1;61(9):3760-9. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Kiessling A, Fussel S, Schmitz M, Stevanovic S, Meye A, Weigle B, Klenk U, Wirth MP, Rieber EP: Identification of an HLA-A*0201-restricted T-cell epitope derived from the prostate cancer-associated protein trp-p8. Prostate. 2003 Sep 1;56(4):270-9. [PubMed
]
- Voets T, Droogmans G, Wissenbach U, Janssens A, Flockerzi V, Nilius B: The principle of temperature-dependent gating in cold- and heat-sensitive TRP channels. Nature. 2004 Aug 12;430(7001):748-54. [PubMed
]
|
| Enzyme 24 Metabolite References |
Not Available |
|
Enzyme 25
[top]
|
| Enzyme 25 ID |
7752 |
| Enzyme 25 Name |
Amiloride-sensitive sodium channel subunit alpha |
| Enzyme 25 Synonyms |
- Alpha-NaCH
- Epithelial Na(+) channel subunit alpha
- Alpha-ENaC
- ENaCA
- Nonvoltage-gated sodium channel 1 subunit alpha
- SCNEA
|
| Enzyme 25 Gene Name |
SCNN1A |
| Enzyme 25 Protein Sequence |
>Amiloride-sensitive sodium channel subunit alpha
MEGNKLEEQDSSPPQSTPGLMKGNKREEQGLGPEPAAPQQPTAEEEALIEFHRSYRELFE
FFCNNTTIHGAIRLVCSQHNRMKTAFWAVLWLCTFGMMYWQFGLLFGEYFSYPVSLNINL
NSDKLVFPAVTICTLNPYRYPEIKEELEELDRITEQTLFDLYKYSSFTTLVAGSRSRRDL
RGTLPHPLQRLRVPPPPHGARRARSVASSLRDNNPQVDWKDWKIGFQLCNQNKSDCFYQT
YSSGVDAVREWYRFHYINILSRLPETLPSLEEDTLGNFIFACRFNQVSCNQANYSHFHHP
MYGNCYTFNDKNNSNLWMSSMPGINNGLSLMLRAEQNDFIPLLSTVTGARVMVHGQDEPA
FMDDGGFNLRPGVETSISMRKETLDRLGGDYGDCTKNGSDVPVENLYPSKYTQQVCIHSC
FQESMIKECGCAYIFYPRPQNVEYCDYRKHSSWGYCYYKLQVDFSSDHLGCFTKCRKPCS
VTSYQLSAGYSRWPSVTSQEWVFQMLSRQNNYTVNNKRNGVAKVNIFFKELNYKTNSESP
SVTMVTLLSNLGSQWSLWFGSSVLSVVEMAELVFDLLVIMFLMLLRRFRSRYWSPGRGGR
GAQEVASTLASSPPSHFCPHPMSLSLSQPGPAPSPALTAPPPAYATLGPRPSPGGSAGAS
SSTCPLGGP
|
| Enzyme 25 Number of Residues |
669 |
| Enzyme 25 Molecular Weight |
75703.1 |
| Enzyme 25 Theoretical pI |
7.54 |
| Enzyme 25 GO Classification |
| Function |
- amiloride-sensitive sodium channel activity
- cation channel activity
- ion channel activity
- ion transmembrane transporter activity
- sodium channel activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- cation transport
- establishment of localization
- ion transport
- monovalent inorganic cation transport
- sodium ion transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 25 General Function |
Involved in ligand-gated sodium channel activity |
| Enzyme 25 Specific Function |
Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception |
| Enzyme 25 Pathways |
Not Available |
| Enzyme 25 Reactions |
Not Available |
| Enzyme 25 Pfam Domain Function |
|
| Enzyme 25 Signals |
|
| Enzyme 25 Transmembrane Regions |
|
| Enzyme 25 Essentiality |
Not Available |
| Enzyme 25 GenBank ID Protein |
452650  |
| Enzyme 25 UniProtKB/Swiss-Prot ID |
P37088  |
| Enzyme 25 UniProtKB/Swiss-Prot Entry Name |
SCNNA_HUMAN  |
| Enzyme 25 PDB ID |
Not Available |
| Enzyme 25 Cellular Location |
Not Available |
| Enzyme 25 Gene Sequence |
>2010 bp
ATGGAGGGGAACAAGCTGGAGGAGCAGGACTCTAGCCCTCCACAGTCCACTCCAGGGCTC
ATGAAGGGGAACAAGCGTGAGGAGCAGGGGCTGGGCCCCGAACCTGCGGCGCCCCAGCAG
CCCACGGCGGAGGAGGAGGCCCTGATCGAGTTCCACCGCTCCTACCGAGAGCTCTTCGAG
TTCTTCTGCAACAACACCACCATCCACGGCGCCATCCGCCTGGTGTGCTCCCAGCACAAC
CGCATGAAGACGGCCTTCTGGGCAGTGCTGTGGCTCTGCACCTTTGGCATGATGTACTGG
CAATTCGGCCTGCTTTTCGGAGAGTACTTCAGCTACCCCGTCAGCCTCAACATCAACCTC
AACTCGGACAAGCTCGTCTTCCCCGCAGTGACCATCTGCACCCTCAATCCCTACAGGTAC
CCGGAAATTAAAGAGGAGCTGGAGGAGCTGGACCGCATCACAGAGCAGACGCTCTTTGAC
CTGTACAAATACAGCTCCTTCACCACTCTCGTGGCCGGCTCCCGCAGCCGTCGCGACCTG
CGGGGGACTCTGCCGCACCCCTTGCAGCGCCTGAGGGTCCCGCCCCCGCCTCACGGGGCC
CGTCGAGCCCGTAGCGTGGCCTCCAGCTTGCGGGACAACAACCCCCAGGTGGACTGGAAG
GACTGGAAGATCGGCTTCCAGCTGTGCAACCAGAACAAATCGGACTGCTTCTACCAGACA
TACTCATCAGGGGTGGATGCGGTGAGGGAGTGGTACCGCTTCCACTACATCAACATCCTG
TCGAGGCTGCCAGAGACTCTGCCATCCCTGGAGGAGGACACGCTGGGCAACTTCATCTTC
GCCTGCCGCTTCAACCAGGTCTCCTGCAACCAGGCGAATTACTCTCACTTCCACCACCCG
ATGTATGGAAACTGCTATACTTTCAATGACAAGAACAACTCCAACCTCTGGATGTCTTCC
ATGCCTGGAATCAACAACGGTCTGTCCCTGATGCTGCGCGCAGAGCAGAATGACTTCATT
CCCCTGCTGTCCACAGTGACTGGGGCCCGGGTAATGGTGCACGGGCAGGATGAACCTGCC
TTTATGGATGATGGTGGCTTTAACTTGCGGCCTGGCGTGGAGACCTCCATCAGCATGAGG
AAGGAAACCCTGGACAGACTTGGGGGCGATTATGGCGACTGCACCAAGAATGGCAGTGAT
GTTCCTGTTGAGAACCTTTACCCTTCAAAGTACACACAGCAGGTGTGTATTCACTCCTGC
TTCCAGGAGAGCATGATCAAGGAGTGTGGCTGTGCCTACATCTTCTATCCGCGGCCCCAG
AACGTGGAGTACTGTGACTACAGAAAGCACAGTTCCTGGGGGTACTGCTACTATAAGCTC
CAGGTTGACTTCTCCTCAGACCACCTGGGCTGTTTCACCAAGTGCCGGAAGCCATGCAGC
GTGACCAGCTACCAGCTCTCTGCTGGTTACTCACGATGGCCCTCGGTGACATCCCAGGAA
TGGGTCTTCCAGATGCTATCGCGACAGAACAATTACACCGTCAACAACAAGAGAAATGGA
GTGGCCAAAGTCAACATCTTCTTCAAGGAGCTGAACTACAAAACCAATTCTGAGTCTCCC
TCTGTCACGATGGTCACCCTCCTGTCCAACCTGGGCAGCCAGTGGAGCCTGTGGTTCGGC
TCCTCGGTGTTGTCTGTGGTGGAGATGGCTGAGCTCGTCTTTGACCTGCTGGTCATCATG
TTCCTCATGCTGCTCCGAAGGTTCCGAAGCCGATACTGGTCTCCAGGCCGAGGGGGCAGG
GGTGCTCAGGAGGTAGCCTCCACCCTGGCATCCTCCCCTCCTTCCCACTTCTGCCCCCAC
CCCATGTCTCTGTCCTTGTCCCAGCCAGGCCCTGCTCCCTCTCCAGCCTTGACAGCCCCT
CCCCCTGCCTATGCCACCCTGGGCCCCCGCCCATCTCCAGGGGGCTCTGCAGGGGCCAGT
TCCTCCACCTGTCCTCTGGGGGGGCCCTGA
|
| Enzyme 25 GenBank Gene ID |
X76180  |
| Enzyme 25 GeneCard ID |
SCNN1A  |
| Enzyme 25 GenAtlas ID |
SCNN1A  |
| Enzyme 25 HGNC ID |
HGNC:10599  |
| Enzyme 25 Chromosome Location |
1 |
| Enzyme 25 Locus |
12p13 |
| Enzyme 25 SNPs |
SNPJam Report  |
| Enzyme 25 General References |
- Voilley N, Lingueglia E, Champigny G, Mattei MG, Waldmann R, Lazdunski M, Barbry P: The lung amiloride-sensitive Na+ channel: biophysical properties, pharmacology, ontogenesis, and molecular cloning. Proc Natl Acad Sci U S A. 1994 Jan 4;91(1):247-51. [PubMed
]
- McDonald FJ, Snyder PM, McCray PB Jr, Welsh MJ: Cloning, expression, and tissue distribution of a human amiloride-sensitive Na+ channel. Am J Physiol. 1994 Jun;266(6 Pt 1):L728-34. [PubMed
]
- Ludwig M, Bolkenius U, Wickert L, Marynen P, Bidlingmaier F: Structural organisation of the gene encoding the alpha-subunit of the human amiloride-sensitive epithelial sodium channel. Hum Genet. 1998 May;102(5):576-81. [PubMed
]
- Chow YH, Wang Y, Plumb J, O'Brodovich H, Hu J: Hormonal regulation and genomic organization of the human amiloride-sensitive epithelial sodium channel alpha subunit gene. Pediatr Res. 1999 Aug;46(2):208-14. [PubMed
]
- Bangel N, Dahlhoff C, Sobczak K, Weber WM, Kusche-Vihrog K: Upregulated expression of ENaC in human CF nasal epithelium. J Cyst Fibros. 2008 May;7(3):197-205. Epub 2007 Sep 4. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Thomas CP, Auerbach S, Stokes JB, Volk KA: 5' heterogeneity in epithelial sodium channel alpha-subunit mRNA leads to distinct NH2-terminal variant proteins. Am J Physiol. 1998 May;274(5 Pt 1):C1312-23. [PubMed
]
- Mick VE, Itani OA, Loftus RW, Husted RF, Schmidt TJ, Thomas CP: The alpha-subunit of the epithelial sodium channel is an aldosterone-induced transcript in mammalian collecting ducts, and this transcriptional response is mediated via distinct cis-elements in the 5'-flanking region of the gene. Mol Endocrinol. 2001 Apr;15(4):575-88. [PubMed
]
- Tucker JK, Tamba K, Lee YJ, Shen LL, Warnock DG, Oh Y: Cloning and functional studies of splice variants of the alpha-subunit of the amiloride-sensitive Na+ channel. Am J Physiol. 1998 Apr;274(4 Pt 1):C1081-9. [PubMed
]
- Pirozzi G, McConnell SJ, Uveges AJ, Carter JM, Sparks AB, Kay BK, Fowlkes DM: Identification of novel human WW domain-containing proteins by cloning of ligand targets. J Biol Chem. 1997 Jun 6;272(23):14611-6. [PubMed
]
- Harvey KF, Dinudom A, Cook DI, Kumar S: The Nedd4-like protein KIAA0439 is a potential regulator of the epithelial sodium channel. J Biol Chem. 2001 Mar 16;276(11):8597-601. Epub 2001 Jan 17. [PubMed
]
- McDonald FJ, Western AH, McNeil JD, Thomas BC, Olson DR, Snyder PM: Ubiquitin-protein ligase WWP2 binds to and downregulates the epithelial Na(+) channel. Am J Physiol Renal Physiol. 2002 Sep;283(3):F431-6. [PubMed
]
- Ambrosius WT, Bloem LJ, Zhou L, Rebhun JF, Snyder PM, Wagner MA, Guo C, Pratt JH: Genetic variants in the epithelial sodium channel in relation to aldosterone and potassium excretion and risk for hypertension. Hypertension. 1999 Oct;34(4 Pt 1):631-7. [PubMed
]
- Snyder PM, Olson DR, Thomas BC: Serum and glucocorticoid-regulated kinase modulates Nedd4-2-mediated inhibition of the epithelial Na+ channel. J Biol Chem. 2002 Jan 4;277(1):5-8. Epub 2001 Nov 5. [PubMed
]
- Arai K, Zachman K, Shibasaki T, Chrousos GP: Polymorphisms of amiloride-sensitive sodium channel subunits in five sporadic cases of pseudohypoaldosteronism: do they have pathologic potential? J Clin Endocrinol Metab. 1999 Jul;84(7):2434-7. [PubMed
]
- Schaedel C, Marthinsen L, Kristoffersson AC, Kornfalt R, Nilsson KO, Orlenius B, Holmberg L: Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel. J Pediatr. 1999 Dec;135(6):739-45. [PubMed
]
- Saxena A, Hanukoglu I, Saxena D, Thompson RJ, Gardiner RM, Hanukoglu A: Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel alpha-, beta-, and gamma-subunit genes. J Clin Endocrinol Metab. 2002 Jul;87(7):3344-50. [PubMed
]
- Hsieh K, Lalouschek W, Schillinger M, Endler G, Reisinger M, Janisiw M, Lang W, Cheng S, Wagner O, Mannhalter C: Impact of alphaENaC polymorphisms on the risk of ischemic cerebrovascular events: a multicenter case-control study. Clin Chem. 2005 Jun;51(6):952-6. Epub 2005 Feb 25. [PubMed
]
- Edelheit O, Hanukoglu I, Gizewska M, Kandemir N, Tenenbaum-Rakover Y, Yurdakok M, Zajaczek S, Hanukoglu A: Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism. Clin Endocrinol (Oxf). 2005 May;62(5):547-53. [PubMed
]
- Sheridan MB, Fong P, Groman JD, Conrad C, Flume P, Diaz R, Harris C, Knowles M, Cutting GR: Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. Hum Mol Genet. 2005 Nov 15;14(22):3493-8. Epub 2005 Oct 5. [PubMed
]
- Azad AK, Rauh R, Vermeulen F, Jaspers M, Korbmacher J, Boissier B, Bassinet L, Fichou Y, des Georges M, Stanke F, De Boeck K, Dupont L, Balascakova M, Hjelte L, Lebecque P, Radojkovic D, Castellani C, Schwartz M, Stuhrmann M, Schwarz M, Skalicka V, de Monestrol I, Girodon E, Ferec C, Claustres M, Tummler B, Cassiman JJ, Korbmacher C, Cuppens H: Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease. Hum Mutat. 2009 Jul;30(7):1093-103. [PubMed
]
|
| Enzyme 25 Metabolite References |
Not Available |
|
Enzyme 26
[top]
|
| Enzyme 26 ID |
7764 |
| Enzyme 26 Name |
Sodium- and chloride-dependent GABA transporter 3 |
| Enzyme 26 Synonyms |
- GAT-3
- Solute carrier family 6 member 11
|
| Enzyme 26 Gene Name |
SLC6A11 |
| Enzyme 26 Protein Sequence |
>Sodium- and chloride-dependent GABA transporter 3
MTAEKALPLGNGKAAEEARESEAPGGGCSSGGAAPARHPRVKRDKAVHERGHWNNKVEFV
LSVAGEIIGLGNVWRFPYLCYKNGGGAFLIPYVVFFICCGIPVFFLETALGQFTSEGGIT
CWRKVCPLFEGIGYATQVIEAHLNVYYIIILAWAIFYLSNCFTTELPWATCGHEWNTENC
VEFQKLNVSNYSHVSLQNATSPVMEFWEHRVLAISDGIEHIGNLRWELALCLLAAWTICY
FCIWKGTKSTGKVVYVTATFPYIMLLILLIRGVTLPGASEGIKFYLYPDLSRLSDPQVWV
DAGTQIFFSYAICLGCLTALGSYNNYNNNCYRDCIMLCCLNSGTSFVAGFAIFSVLGFMA
YEQGVPIAEVAESGPGLAFIAYPKAVTMMPLSPLWATLFFMMLIFLGLDSQFVCVESLVT
AVVDMYPKVFRRGYRRELLILALSVISYFLGLVMLTEGGMYIFQLFDSYAASGMCLLFVA
IFECICIGWVYGSNRFYDNIEDMIGYRPPSLIKWCWMIMTPGICAGIFIFFLIKYKPLKY
NNIYTYPAWGYGIGWLMALSSMLCIPLWICITVWKTEGTLPEKLQKLTTPSTDLKMRGKL
GVSPRMVTVNDCDAKLKSDGTIAAITEKETHF
|
| Enzyme 26 Number of Residues |
632 |
| Enzyme 26 Molecular Weight |
70605.1 |
| Enzyme 26 Theoretical pI |
6.89 |
| Enzyme 26 GO Classification |
| Function |
- gamma-aminobutyric acid:sodium symporter activity
- neurotransmitter transporter activity
- neurotransmitter:sodium symporter activity
- organic acid transmembrane transporter activity
- organic acid:sodium symporter activity
- sodium:amino acid symporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- neurotransmitter transport
- transport
|
| Component |
- cell part
- integral to membrane
- integral to plasma membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 26 General Function |
Involved in neurotransmitter:sodium symporter activity |
| Enzyme 26 Specific Function |
Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals |
| Enzyme 26 Pathways |
Not Available |
| Enzyme 26 Reactions |
Not Available |
| Enzyme 26 Pfam Domain Function |
|
| Enzyme 26 Signals |
|
| Enzyme 26 Transmembrane Regions |
- 59-79
87-106
131-151
226-244
253-270
306-323
335-356
389-408
438-456
473-493
514-533
553-571
|
| Enzyme 26 Essentiality |
Not Available |
| Enzyme 26 GenBank ID Protein |
189053427  |
| Enzyme 26 UniProtKB/Swiss-Prot ID |
P48066  |
| Enzyme 26 UniProtKB/Swiss-Prot Entry Name |
S6A11_HUMAN  |
| Enzyme 26 PDB ID |
Not Available |
| Enzyme 26 Cellular Location |
Not Available |
| Enzyme 26 Gene Sequence |
>1899 bp
ATGACGGCGGAGAAGGCGCTGCCCCTGGGCAATGGGAAGGCTGCTGAGGAGGCGCGGGAG
TCCGAGGCGCCGGGTGGCGGCTGCAGCAGCGGGGGCGCGGCGCCCGCGCGCCACCCGCGC
GTCAAGCGCGACAAGGCGGTCCACGAGCGCGGCCACTGGAACAACAAGGTGGAGTTCGTG
CTGAGCGTGGCCGGGGAGATCATTGGGCTGGGCAACGTGTGGCGCTTCCCCTACCTGTGC
TACAAGAACGGAGGAGGGGCATTCCTGATTCCCTACGTGGTGTTTTTTATTTGCTGTGGA
ATTCCTGTTTTTTTCCTGGAGACAGCTCTGGGGCAGTTCACAAGTGAAGGTGGCATTACG
TGTTGGAGGAAAGTTTGCCCTTTATTTGAAGGCATTGGCTATGCAACACAGGTGATTGAG
GCCCATCTGAATGTGTACTACATCATCATCCTGGCATGGGCCATTTTTTACCTGAGCAAC
TGCTTCACTACTGAGCTACCCTGGGCTACCTGTGGGCATGAGTGGAACACAGAGAATTGT
GTGGAGTTCCAGAAACTGAATGTGAGCAACTACAGCCATGTGTCTCTGCAGAATGCCACC
TCCCCTGTCATGGAGTTTTGGGAGCACCGGGTCCTGGCCATCTCTGACGGGATCGAGCAC
ATCGGGAACCTTCGCTGGGAGCTGGCCTTGTGTCTCTTGGCAGCCTGGACCATCTGTTAC
TTCTGTATCTGGAAGGGGACCAAGTCTACAGGAAAGGTTGTATACGTGACTGCGACATTC
CCCTACATCATGCTGCTGATCCTCCTGATACGAGGGGTCACGTTGCCCGGGGCCTCAGAG
GGCATCAAGCTCTACTTGTACCCTGACCTCTCCCGGCTCTCCGACCCCCAGGTCTGGGTA
GATGCTGGAACGCAGATCTTTTTCTCCTATGCCATTTGCCTGGGCTGTCTGACCGCTCTG
GGAAGTTATAACAATTATAACAACAACTGCTACAGGGACTGCATCATGCTCTGTTGCCTG
AACAGCGGCACCAGCTTCGTGGCTGGGTTTGCCATCTTCTCAGTCCTGGGTTTTATGGCG
TACGAGCAGGGGGTACCCATTGCTGAGGTGGCAGAGTCAGGCCCCGGCCTGGCCTTTATT
GCATACCCCAAGGCGGTCACCATGATGCCTCTCTCCCCGCTGTGGGCCACCTTGTTCTTC
ATGATGCTCATCTTCCTGGGCCTGGACAGCCAGTTTGTGTGTGTGGAAAGCCTGGTGACC
GCCGTGGTGGACATGTACCCCAAGGTTTTCCGGAGGGGTTACCGGCGGGAGCTGCTCATC
CTAGCCTTGTCTGTTATCTCCTATTTTCTGGGCCTCGTGATGTTAACAGAGGGTGGCATG
TACATCTTCCAGCTCTTTGACTCCTATGCCGCCAGTGGGATGTGCCTTCTCTTCGTGGCC
ATCTTTGAGTGCATCTGCATCGGCTGGGTGTATGGAAGCAACCGGTTCTATGATAACATT
GAAGACATGATTGGCTACCGGCCACCGTCGCTCATTAAGTGGTGCTGGATGATCATGACC
CCTGGGATCTGCGCGGGGATCTTCATCTTCTTCTTGATCAAGTACAAGCCACTCAAGTAC
AACAACATCTACACCTACCCAGCCTGGGGCTATGGCATTGGCTGGCTCATGGCCCTGTCC
TCCATGCTCTGCATCCCGCTCTGGATCTGCATCACAGTGTGGAAGACGGAGGGGACACTG
CCCGAGAAACTCCAGAAGTTGACGACCCCCAGCACAGATCTGAAAATGCGGGGCAAGCTT
GGGGTGAGCCCACGGATGGTGACAGTTAATGACTGTGATGCCAAACTCAAGAGTGACGGG
ACCATCGCAGCCATCACAGAGAAGGAGACGCACTTCTGA
|
| Enzyme 26 GenBank Gene ID |
AK312719  |
| Enzyme 26 GeneCard ID |
SLC6A11  |
| Enzyme 26 GenAtlas ID |
SLC6A11  |
| Enzyme 26 HGNC ID |
HGNC:11044  |
| Enzyme 26 Chromosome Location |
3 |
| Enzyme 26 Locus |
3p25.3 |
| Enzyme 26 SNPs |
SNPJam Report  |
| Enzyme 26 General References |
- Borden LA, Dhar TG, Smith KE, Branchek TA, Gluchowski C, Weinshank RL: Cloning of the human homologue of the GABA transporter GAT-3 and identification of a novel inhibitor with selectivity for this site. Receptors Channels. 1994;2(3):207-13. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
|
| Enzyme 26 Metabolite References |
Not Available |
|
Enzyme 27
[top]
|
| Enzyme 27 ID |
7822 |
| Enzyme 27 Name |
P3 protein |
| Enzyme 27 Synonyms |
- Solute carrier family 10 member 3
|
| Enzyme 27 Gene Name |
SLC10A3 |
| Enzyme 27 Protein Sequence |
>P3 protein
MVLMQDKGSSQQWPGLGGEGGGTGPLSMLRAALLLISLPWGAQGTASTSLSTAGGHTVPP
TGGRYLSIGDGSVMEFEFPEDSEGIIVISSQYPGQANRTAPGPMLRVTSLDTEVLTIKNV
SAITWGGGGGFVVSIHSGLAGLAPLHIQLVDAHEAPPTLIEERRDFCIKVSPAEDTPATL
SADLAHFSENPILYLLLPLIFVNKCSFGCKVELEVLKGLMQSPQPMLLGLLGQFLVMPLY
AFLMAKVFMLPKALALGLIITCSSPGGGGSYLFSLLLGGDVTLAISMTFLSTVAATGFLP
LSSAIYSRLLSIHETLHVPISKILGTLLFIAIPIAVGVLIKSKLPKFSQLLLQVVKPFSF
VLLLGGLFLAYRMGVFILAGIRLPIVLVGITVPLVGLLVGYCLATCLKLPVAQRRTVSIE
VGVQNSLLALAMLQLSLRRLQADYASQAPFIVALSGTSEMLALVIGHFIYSSLFPVP
|
| Enzyme 27 Number of Residues |
477 |
| Enzyme 27 Molecular Weight |
50332.2 |
| Enzyme 27 Theoretical pI |
7.86 |
| Enzyme 27 GO Classification |
| Function |
- bile acid:sodium symporter activity
- organic acid transmembrane transporter activity
- organic acid:sodium symporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- anion transport
- cation transport
- establishment of localization
- ion transport
- monovalent inorganic cation transport
- organic anion transport
- sodium ion transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 27 General Function |
Involved in bile acid:sodium symporter activity |
| Enzyme 27 Specific Function |
The ubiquitous expression and the conservation of the sequence in distant animal species suggest that the gene codes for a protein with housekeeping functions |
| Enzyme 27 Pathways |
Not Available |
| Enzyme 27 Reactions |
Not Available |
| Enzyme 27 Pfam Domain Function |
|
| Enzyme 27 Signals |
|
| Enzyme 27 Transmembrane Regions |
- 225-245
253-273
281-301
320-340
361-381
383-403
417-437
450-470
|
| Enzyme 27 Essentiality |
Not Available |
| Enzyme 27 GenBank ID Protein |
150171072  |
| Enzyme 27 UniProtKB/Swiss-Prot ID |
P09131  |
| Enzyme 27 UniProtKB/Swiss-Prot Entry Name |
P3_HUMAN  |
| Enzyme 27 PDB ID |
Not Available |
| Enzyme 27 Cellular Location |
Not Available |
| Enzyme 27 Gene Sequence |
>1434 bp
ATGGTGTTAATGCAGGACAAGGGCAGCTCTCAGCAGTGGCCTGGTCTGGGGGGCGAGGGT
GGTGGCACAGGTCCCTTAAGCATGCTCAGAGCTGCCCTGCTGCTCATCAGCCTGCCATGG
GGGGCCCAAGGGACAGCCAGCACCAGCCTCAGCACTGCTGGGGGTCACACCGTGCCACCG
ACTGGGGGCCGCTACTTGAGCATTGGAGATGGCTCTGTGATGGAGTTTGAGTTTCCTGAG
GACAGTGAGGGCATCATCGTGATCTCCAGCCAGTACCCAGGCCAGGCCAACAGGACGGCG
CCTGGCCCCATGCTCAGGGTCACCTCCCTGGACACAGAGGTGCTGACCATCAAGAACGTG
AGTGCTATAACCTGGGGAGGCGGGGGTGGCTTTGTGGTGAGCATCCACTCAGGCCTGGCT
GGGCTGGCCCCACTCCACATCCAGCTCGTGGACGCCCATGAGGCCCCGCCCACACTGATT
GAGGAGCGGAGAGACTTCTGCATCAAGGTCTCACCTGCTGAAGACACGCCTGCCACCCTC
AGCGCCGACCTGGCCCACTTCTCGGAAAACCCAATCCTCTACCTGCTCCTGCCTCTTATC
TTTGTCAACAAGTGTTCGTTTGGGTGCAAAGTGGAACTCGAGGTTCTGAAGGGGCTCATG
CAGAGCCCCCAGCCCATGCTGCTGGGCCTCCTGGGCCAGTTTCTGGTCATGCCCTTGTAC
GCTTTCCTCATGGCCAAGGTCTTCATGCTGCCCAAGGCCCTGGCTCTGGGCCTCATCATC
ACCTGCTCGTCGCCTGGCGGCGGGGGGAGCTACCTCTTCAGCCTCCTTCTTGGAGGGGAC
GTCACCCTGGCCATCTCCATGACTTTCCTCTCTACGGTGGCTGCCACTGGCTTCTTGCCT
CTGTCTTCGGCCATCTACAGCCGCCTGCTCAGCATCCATGAGACGCTCCACGTGCCCATC
TCCAAGATCCTGGGGACCCTGCTGTTCATTGCCATCCCCATAGCCGTGGGCGTGCTGATC
AAGTCCAAGCTCCCCAAGTTCTCCCAGCTGCTGCTGCAGGTCGTCAAGCCCTTCAGCTTT
GTGCTCCTCCTGGGCGGCCTCTTCCTGGCCTATCGCATGGGGGTCTTCATCCTGGCAGGC
ATCCGGCTACCCATCGTACTGGTGGGTATCACGGTGCCCCTGGTTGGCCTGTTGGTGGGC
TACTGCCTAGCCACGTGTCTGAAGCTGCCAGTGGCCCAGCGGCGGACGGTCAGCATTGAG
GTAGGGGTGCAGAACAGCCTGCTGGCCTTGGCCATGCTGCAGCTATCCCTCCGCCGCCTT
CAAGCTGACTATGCCTCCCAGGCCCCCTTCATTGTGGCGCTGAGCGGCACCTCCGAGATG
CTGGCCTTGGTCATTGGCCACTTCATCTACAGCAGCCTGTTCCCAGTTCCCTGA
|
| Enzyme 27 GenBank Gene ID |
BX664739  |
| Enzyme 27 GeneCard ID |
SLC10A3  |
| Enzyme 27 GenAtlas ID |
SLC10A3  |
| Enzyme 27 HGNC ID |
HGNC:22979  |
| Enzyme 27 Chromosome Location |
Not Available |
| Enzyme 27 Locus |
Not Available |
| Enzyme 27 SNPs |
SNPJam Report  |
| Enzyme 27 General References |
- Alcalay M, Toniolo D: CpG islands of the X chromosome are gene associated. Nucleic Acids Res. 1988 Oct 25;16(20):9527-43. [PubMed
]
- Chen EY, Zollo M, Mazzarella R, Ciccodicola A, Chen CN, Zuo L, Heiner C, Burough F, Repetto M, Schlessinger D, D'Urso M: Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci. Hum Mol Genet. 1996 May;5(5):659-68. [PubMed
]
- Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T, Gibbs RA, Beck S, Rogers J, Bentley DR: The DNA sequence of the human X chromosome. Nature. 2005 Mar 17;434(7031):325-37. [PubMed
]
|
| Enzyme 27 Metabolite References |
Not Available |
|
Enzyme 28
[top]
|
| Enzyme 28 ID |
7854 |
| Enzyme 28 Name |
Equilibrative nucleoside transporter 1 |
| Enzyme 28 Synonyms |
- Equilibrative nitrobenzylmercaptopurine riboside-sensitive nucleoside transporter
- Equilibrative NBMPR-sensitive nucleoside transporter
- Nucleoside transporter, es-type
- Solute carrier family 29 member 1
|
| Enzyme 28 Gene Name |
SLC29A1 |
| Enzyme 28 Protein Sequence |
>Equilibrative nucleoside transporter 1
MTTSHQPQDRYKAVWLIFFMLGLGTLLPWNFFMTATQYFTNRLDMSQNVSLVTAELSKDA
QASAAPAAPLPERNSLSAIFNNVMTLCAMLPLLLFTYLNSFLHQRIPQSVRILGSLVAIL
LVFLITAILVKVQLDALPFFVITMIKIVLINSFGAILQGSLFGLAGLLPASYTAPIMSGQ
GLAGFFASVAMICAIASGSELSESAFGYFITACAVIILTIICYLGLPRLEFYRYYQQLKL
EGPGEQETKLDLISKGEEPRAGKEESGVSVSNSQPTNESHSIKAILKNISVLAFSVCFIF
TITIGMFPAVTVEVKSSIAGSSTWERYFIPVSCFLTFNIFDWLGRSLTAVFMWPGKDSRW
LPSLVLARLVFVPLLLLCNIKPRRYLTVVFEHDAWFIFFMAAFAFSNGYLASLCMCFGPK
KVKPAEAETAGAIMAFFLCLGLALGAVFSFLFRAIV
|
| Enzyme 28 Number of Residues |
456 |
| Enzyme 28 Molecular Weight |
50218.8 |
| Enzyme 28 Theoretical pI |
8.39 |
| Enzyme 28 GO Classification |
| Function |
- nucleobase, nucleoside, nucleotide and nucleic acid transmembrane transporter activity
- nucleoside transmembrane transporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- transport
|
| Component |
|
|
| Enzyme 28 General Function |
Involved in nucleoside transmembrane transporter activity |
| Enzyme 28 Specific Function |
Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). It is sensitive (ES) to low concentrations of the inhibitor nitrobenzylmercaptopurine riboside (NBMPR) and is sodium-independent. It has a higher affinity for adenosine. Inhibited by dipyridamole and dilazep (anticancer chemotherapeutics drugs) |
| Enzyme 28 Pathways |
Not Available |
| Enzyme 28 Reactions |
Not Available |
| Enzyme 28 Pfam Domain Function |
|
| Enzyme 28 Signals |
|
| Enzyme 28 Transmembrane Regions |
- 13-29
83-107
112-130
139-157
175-199
207-227
292-311
324-342
360-378
394-413
432-452
|
| Enzyme 28 Essentiality |
Not Available |
| Enzyme 28 GenBank ID Protein |
Not Available |
| Enzyme 28 UniProtKB/Swiss-Prot ID |
Q99808  |
| Enzyme 28 UniProtKB/Swiss-Prot Entry Name |
S29A1_HUMAN  |
| Enzyme 28 PDB ID |
Not Available |
| Enzyme 28 Cellular Location |
Not Available |
| Enzyme 28 Gene Sequence |
>1371 bp
ATGACAACCAGTCACCAGCCTCAGGACAGATACAAAGCTGTCTGGCTTATCTTCTTCATG
CTGGGTCTGGGAACGCTGCTCCCGTGGAATTTTTTCATGACGGCCACTCAGTATTTCACA
AACCGCCTGGACATGTCCCAGAATGTGTCCTTGGTCACTGCTGAACTGAGCAAGGACGCC
CAGGCGTCAGCCGCCCCTGCAGCACCCTTGCCTGAGCGGAACTCTCTCAGTGCCATCTTC
AACAATGTCATGACCCTATGTGCCATGCTGCCCCTGCTGTTATTCACCTACCTCAACTCC
TTCCTGCATCAGAGGATCCCCCAGTCCGTACGGATCCTGGGCAGCCTGGTGGCCATCCTG
CTGGTGTTTCTGATCACTGCCATCCTGGTGAAGGTGCAGCTGGATGCTCTGCCCTTCTTT
GTCATCACCATGATCAAGATCGTGCTCATTAATTCATTTGGTGCCATCCTGCAGGGCAGC
CTGTTTGGTCTGGCTGGCCTTCTGCCTGCCAGCTACACGGCCCCCATCATGAGTGGCCAG
GGCCTAGCAGGCTTCTTTGCCTCCGTGGCCATGATCTGCGCTATTGCCAGTGGCTCGGAA
CTATCAGAAAGTGCCTTCGGCTACTTTATCACAGCCTGTGCTGTTATCATTTTGACCATC
ATCTGTTACCTGGGCCTGCCCCGCCTGGAATTCTACCGCTACTACCAGCAGCTCAAGCTT
GAAGGACCCGGGGAGCAGGAGACCAAGTTGGACCTCATTAGCAAAGGAGAGGAGCCAAGA
GCAGGCAAAGAGGAATCTGGAGTTTCAGTCTCCAACTCTCAGCCCACCAATGAAAGCCAC
TCTATCAAAGCCATCCTGAAAAATATCTCAGTCCTGGCTTTCTCTGTCTGCTTCATCTTC
ACTATCACCATTGGGATGTTTCCAGCCGTGACTGTTGAGGTCAAGTCCAGCATCGCAGGC
AGCAGCACCTGGGAACGTTACTTCATTCCTGTGTCCTGTTTCTTGACTTTCAATATCTTT
GACTGGTTGGGCCGGAGCCTCACAGCTGTATTCATGTGGCCTGGGAAGGACAGCCGCTGG
CTGCCAAGCCTGGTGCTGGCCCGGCTGGTGTTTGTGCCACTGCTGCTGCTGTGCAACATT
AAGCCCCGCCGCTACCTGACTGTGGTCTTCGAGCACGATGCCTGGTTCATCTTCTTCATG
GCTGCCTTTGCCTTCTCCAACGGCTACCTCGCCAGCCTCTGCATGTGCTTCGGGCCCAAG
AAAGTGAAGCCAGCTGAGGCAGAGACCGCAGGAGCCATCATGGCCTTCTTCCTGTGTCTG
GGTCTGGCACTGGGGGCTGTTTTCTCCTTCCTGTTCCGGGCAATTGTGTGA
|
| Enzyme 28 GenBank Gene ID |
U81375  |
| Enzyme 28 GeneCard ID |
SLC29A1  |
| Enzyme 28 GenAtlas ID |
SLC29A1  |
| Enzyme 28 HGNC ID |
HGNC:11003  |
| Enzyme 28 Chromosome Location |
6 |
| Enzyme 28 Locus |
6p21.1 |
| Enzyme 28 SNPs |
SNPJam Report  |
| Enzyme 28 General References |
- Griffiths M, Beaumont N, Yao SY, Sundaram M, Boumah CE, Davies A, Kwong FY, Coe I, Cass CE, Young JD, Baldwin SA: Cloning of a human nucleoside transporter implicated in the cellular uptake of adenosine and chemotherapeutic drugs. Nat Med. 1997 Jan;3(1):89-93. [PubMed
]
- Lum PY, Ngo LY, Bakken AH, Unadkat JD: Human intestinal es nucleoside transporter: molecular characterization and nucleoside inhibitory profiles. Cancer Chemother Pharmacol. 2000;45(4):273-8. [PubMed
]
- Sankar N, Machado J, Abdulla P, Hilliker AJ, Coe IR: Comparative genomic analysis of equilibrative nucleoside transporters suggests conserved protein structure despite limited sequence identity. Nucleic Acids Res. 2002 Oct 15;30(20):4339-50. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L, Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J, Beck S: The DNA sequence and analysis of human chromosome 6. Nature. 2003 Oct 23;425(6960):805-11. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. Epub 2008 Jul 31. [PubMed
]
- Wollscheid B, Bausch-Fluck D, Henderson C, O'Brien R, Bibel M, Schiess R, Aebersold R, Watts JD: Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins. Nat Biotechnol. 2009 Apr;27(4):378-86. Epub 2009 Apr 6. [PubMed
]
- Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE: The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314(5797):268-74. Epub 2006 Sep 7. [PubMed
]
|
| Enzyme 28 Metabolite References |
Not Available |
|
Enzyme 29
[top]
|
| Enzyme 29 ID |
7869 |
| Enzyme 29 Name |
High affinity choline transporter 1 |
| Enzyme 29 Synonyms |
- Hemicholinium-3-sensitive choline transporter
- CHT
- Solute carrier family 5 member 7
|
| Enzyme 29 Gene Name |
SLC5A7 |
| Enzyme 29 Protein Sequence |
>High affinity choline transporter 1
MAFHVEGLIAIIVFYLLILLVGIWAAWRTKNSGSAEERSEAIIVGGRDIGLLVGGFTMTA
TWVGGGYINGTAEAVYVPGYGLAWAQAPIGYSLSLILGGLFFAKPMRSKGYVTMLDPFQQ
IYGKRMGGLLFIPALMGEMFWAAAIFSALGATISVIIDVDMHISVIISALIATLYTLVGG
LYSVAYTDVVQLFCIFVGLWISVPFALSHPAVADIGFTAVHAKYQKPWLGTVDSSEVYSW
LDSFLLLMLGGIPWQAYFQRVLSSSSATYAQVLSFLAAFGCLVMAIPAILIGAIGASTDW
NQTAYGLPDPKTTEEADMILPIVLQYLCPVYISFFGLGAVSAAVMSSADSSILSASSMFA
RNIYQLSFRQNASDKEIVWVMRITVFVFGASATAMALLTKTVYGLWYLSSDLVYIVIFPQ
LLCVLFVKGTNTYGAVAGYVSGLFLRITGGEPYLYLQPLIFYPGYYPDDNGIYNQKFPFK
TLAMVTSFLTNICISYLAKYLFESGTLPPKLDVFDAVVARHSEENMDKTILVKNENIKLD
ELALVKPRQSMTLSSTFTNKEAFLDVDSSPEGSGTEDNLQ
|
| Enzyme 29 Number of Residues |
580 |
| Enzyme 29 Molecular Weight |
63203.0 |
| Enzyme 29 Theoretical pI |
4.77 |
| Enzyme 29 GO Classification |
| Function |
|
| Process |
- establishment of localization
- transmembrane transport
- transport
|
| Component |
|
|
| Enzyme 29 General Function |
Involved in transporter activity |
| Enzyme 29 Specific Function |
Imports choline from the extracellular space to the neuron with high affinity. Choline uptake is the rate-limiting step in acetylcholine synthesis. Sodium ion- and chloride ion- dependent |
| Enzyme 29 Pathways |
Not Available |
| Enzyme 29 Reactions |
Not Available |
| Enzyme 29 Pfam Domain Function |
|
| Enzyme 29 Signals |
|
| Enzyme 29 Transmembrane Regions |
- 7-27
49-69
82-102
126-146
165-185
192-212
238-258
275-295
318-338
377-397
407-427
436-456
|
| Enzyme 29 Essentiality |
Not Available |
| Enzyme 29 GenBank ID Protein |
10998442  |
| Enzyme 29 UniProtKB/Swiss-Prot ID |
Q9GZV3  |
| Enzyme 29 UniProtKB/Swiss-Prot Entry Name |
SC5A7_HUMAN  |
| Enzyme 29 PDB ID |
Not Available |
| Enzyme 29 Cellular Location |
Not Available |
| Enzyme 29 Gene Sequence |
>1743 bp
ATGGCTTTCCATGTGGAAGGACTGATAGCTATCATCGTGTTCTACCTTCTAATTTTGCTG
GTTGGAATATGGGCTGCCTGGAGAACCAAAAACAGTGGCAGCGCAGAAGAGCGCAGCGAA
GCCATCATAGTTGGTGGCCGAGATATTGGTTTATTGGTTGGTGGATTTACCATGACAGCT
ACCTGGGTCGGAGGAGGGTATATCAATGGCACAGCTGAAGCAGTTTATGTACCAGGTTAT
GGCCTAGCTTGGGCTCAGGCACCAATTGGATATTCTCTTAGTCTGATTTTAGGTGGCCTG
TTCTTTGCAAAACCTATGCGTTCAAAGGGGTATGTGACCATGTTAGACCCGTTTCAGCAA
ATCTATGGAAAACGCATGGGCGGACTCCTGTTTATTCCTGCACTGATGGGAGAAATGTTC
TGGGCTGCAGCAATTTTCTCTGCTTTGGGAGCCACCATCAGCGTGATCATCGATGTGGAT
ATGCACATTTCTGTCATCATCTCTGCACTCATTGCCACTCTGTACACACTGGTGGGAGGG
CTCTATTCTGTGGCCTACACTGATGTCGTTCAGCTCTTTTGCATTTTTGTAGGGCTGTGG
ATCAGCGTCCCCTTTGCATTGTCACATCCTGCAGTCGCAGACATCGGGTTCACTGCTGTG
CATGCCAAATACCAAAAGCCGTGGCTGGGAACTGTTGACTCATCTGAAGTCTACTCTTGG
CTTGATAGTTTTCTGTTGTTGATGCTGGGTGGAATCCCATGGCAAGCATACTTTCAGAGG
GTTCTCTCTTCTTCCTCAGCCACCTATGCTCAAGTGCTGTCCTTCCTGGCAGCTTTCGGG
TGCCTGGTGATGGCCATCCCAGCCATACTCATTGGGGCCATTGGAGCATCAACAGACTGG
AACCAGACTGCATATGGGCTTCCAGATCCCAAGACTACAGAAGAGGCAGACATGATTTTA
CCAATTGTTCTGCAGTATCTCTGCCCTGTGTATATTTCTTTCTTTGGTCTTGGTGCAGTT
TCTGCTGCTGTTATGTCATCAGCAGATTCTTCCATCTTGTCAGCAAGTTCCATGTTTGCA
CGGAACATCTACCAGCTTTCCTTCAGACAAAATGCTTCGGACAAAGAAATCGTTTGGGTT
ATGCGAATCACAGTGTTTGTGTTTGGAGCATCTGCAACAGCCATGGCCTTGCTGACGAAA
ACTGTGTATGGGCTCTGGTACCTCAGTTCTGACCTTGTTTACATCGTTATCTTCCCCCAG
CTGCTTTGTGTACTCTTTGTTAAGGGAACCAACACCTATGGGGCCGTGGCAGGTTATGTT
TCTGGCCTCTTCCTGAGAATAACTGGAGGGGAGCCATATCTGTATCTTCAGCCCTTGATC
TTCTACCCTGGCTATTACCCTGATGATAATGGTATATATAATCAGAAATTTCCATTTAAA
ACACTTGCCATGGTTACATCATTCTTAACCAACATTTGCATCTCCTATCTAGCCAAGTAT
CTATTTGAAAGTGGAACCTTGCCACCTAAATTAGATGTATTTGATGCTGTTGTTGCAAGA
CACAGTGAAGAAAACATGGATAAGACAATTCTTGTCAAAAATGAAAATATTAAATTAGAT
GAACTTGCACTTGTGAAGCCACGACAGAGCATGACCCTCAGCTCAACTTTCACCAATAAA
GAGGCCTTCCTTGATGTTGATTCCAGTCCAGAAGGGTCTGGGACTGAAGATAATTTACAG
TGA
|
| Enzyme 29 GenBank Gene ID |
AF276871  |
| Enzyme 29 GeneCard ID |
SLC5A7  |
| Enzyme 29 GenAtlas ID |
SLC5A7  |
| Enzyme 29 HGNC ID |
HGNC:14025  |
| Enzyme 29 Chromosome Location |
2 |
| Enzyme 29 Locus |
2q12 |
| Enzyme 29 SNPs |
SNPJam Report  |
| Enzyme 29 General References |
- Apparsundaram S, Ferguson SM, George AL Jr, Blakely RD: Molecular cloning of a human, hemicholinium-3-sensitive choline transporter. Biochem Biophys Res Commun. 2000 Oct 5;276(3):862-7. [PubMed
]
- Okuda T, Haga T: Functional characterization of the human high-affinity choline transporter. FEBS Lett. 2000 Nov 3;484(2):92-7. [PubMed
]
- Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK: Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434(7034):724-31. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Okuda T, Okamura M, Kaitsuka C, Haga T, Gurwitz D: Single nucleotide polymorphism of the human high affinity choline transporter alters transport rate. J Biol Chem. 2002 Nov 22;277(47):45315-22. Epub 2002 Sep 16. [PubMed
]
|
| Enzyme 29 Metabolite References |
Not Available |
|
Enzyme 30
[top]
|
| Enzyme 30 ID |
7884 |
| Enzyme 30 Name |
Large neutral amino acids transporter small subunit 2 |
| Enzyme 30 Synonyms |
- L-type amino acid transporter 2
- hLAT2
- Solute carrier family 7 member 8
|
| Enzyme 30 Gene Name |
SLC7A8 |
| Enzyme 30 Protein Sequence |
>Large neutral amino acids transporter small subunit 2
MEEGARHRNNTEKKHPGGGESDASPEAGSGGGGVALKKEIGLVSACGIIVGNIIGSGIFV
SPKGVLENAGSVGLALIVWIVTGFITVVGALCYAELGVTIPKSGGDYSYVKDIFGGLAGF
LRLWIAVLVIYPTNQAVIALTFSNYVLQPLFPTCFPPESGLRLLAAICLLLLTWVNCSSV
RWATRVQDIFTAGKLLALALIIIMGIVQICKGEYFWLEPKNAFENFQEPDIGLVALAFLQ
GSFAYGGWNFLNYVTEELVDPYKNLPRAIFISIPLVTFVYVFANVAYVTAMSPQELLASN
AVAVTFGEKLLGVMAWIMPISVALSTFGGVNGSLFTSSRLFFAGAREGHLPSVLAMIHVK
RCTPIPALLFTCISTLLMLVTSDMYTLINYVGFINYLFYGVTVAGQIVLRWKKPDIPRPI
KINLLFPIIYLLFWAFLLVFSLWSEPVVCGIGLAIMLTGVPVYFLGVYWQHKPKCFSDFI
ELLTLVSQKMCVVVYPEVERGSGTEEANEDMEEQQQPMYQPTPTKDKDVAGQPQP
|
| Enzyme 30 Number of Residues |
535 |
| Enzyme 30 Molecular Weight |
58381.1 |
| Enzyme 30 Theoretical pI |
5.75 |
| Enzyme 30 GO Classification |
| Function |
- active transmembrane transporter activity
- amine transmembrane transporter activity
- amino acid transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- amine transport
- amino acid transport
- establishment of localization
- transmembrane transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 30 General Function |
Involved in transport |
| Enzyme 30 Specific Function |
Sodium-independent, high-affinity transport of small and large neutral amino acids such as alanine, serine, threonine, cysteine, phenylalanine, tyrosine, leucine, arginine and tryptophan, when associated with SLC3A2/4F2hc. Acts as an amino acid exchanger. Has higher affinity for L-phenylalanine than LAT1 but lower affinity for glutamine and serine. L-alanine is transported at physiological concentrations. Plays a role in basolateral (re)absorption of neutral amino acids. Involved in the uptake of methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes, and hence plays a role in metal ion homeostasis and toxicity. Involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L-nitrosocysteine (L-CNSO) across the transmembrane. Plays an essential role in the reabsorption of neutral amino acids from the epithelial cells to the bloodstream in the kidney |
| Enzyme 30 Pathways |
Not Available |
| Enzyme 30 Reactions |
Not Available |
| Enzyme 30 Pfam Domain Function |
|
| Enzyme 30 Signals |
|
| Enzyme 30 Transmembrane Regions |
- 40-60
72-92
113-133
155-175
189-209
231-251
268-288
310-330
362-382
388-408
424-444
447-467
|
| Enzyme 30 Essentiality |
Not Available |
| Enzyme 30 GenBank ID Protein |
12597192  |
| Enzyme 30 UniProtKB/Swiss-Prot ID |
Q9UHI5  |
| Enzyme 30 UniProtKB/Swiss-Prot Entry Name |
LAT2_HUMAN  |
| Enzyme 30 PDB ID |
Not Available |
| Enzyme 30 Cellular Location |
Not Available |
| Enzyme 30 Gene Sequence |
>1608 bp
ATGGAAGAAGGAGCCAGGCACCGAAACAACACCGAAAAGAAACACCCAGGTGGGGGCGAG
TCGGACGCCAGCCCCGAGGCTGGTTCCGGAGGGGGCGGAGTAGCCCTGAAGAAAGAGATC
GGATTGGTCAGTGCCTGTGGTATCATCGTAGGGAACATCATCGGCTCTGGAATCTTTGTC
TCGCCAAAGGGAGTGCTGGAGAATGCTGGTTCTGTGGGCCTTGCTCTCATCGTCTGGATT
GTGACGGGCTTCATCACAGTTGTGGGAGCCCTCTGCTATGCTGAACTCGGGGTCACCATC
CCCAAATCTGGAGGTGACTACTCCTATGTCAAGGACATCTTCGGAGGACTGGCTGGGTTC
CTGAGGCTGTGGATTGCTGTGCTGGTGATCTACCCCACCAACCAGGCTGTCATCGCCCTC
ACCTTCTCCAACTACGTGCTGCAGCCGCTCTTCCCCACCTGCTTCCCCCCAGAGTCTGGC
CTTCGGCTCCTGGCTGCCATCTGCTTATTGCTCCTCACATGGGTCAACTGTTCCAGTGTG
CGGTGGGCCACCCGGGTTCAAGACATCTTCACAGCTGGGAAGCTCCTGGCCTTGGCCCTG
ATTATCATCATGGGGATTGTACAGATATGCAAAGGAGAGTACTTCTGGCTGGAGCCAAAG
AATGCATTTGAGAATTTCCAGGAACCTGACATCGGCCTCGTCGCACTGGCTTTCCTTCAG
GGCTCCTTTGCCTATGGAGGCTGGAACTTTCTGAATTACGTGACTGAGGAGCTTGTTGAT
CCCTACAAGAACCTTCCCAGAGCCATCTTCATCTCCATCCCACTGGTCACATTTGTGTAT
GTCTTTGCCAATGTCGCTTATGTCACTGCAATGTCCCCCCAGGAGCTGCTGGCATCCAAC
GCCGTCGCTGTGACTTTTGGAGAGAAGCTCCTAGGAGTCATGGCCTGGATCATGCCCATT
TCTGTTGCCCTGTCCACATTTGGAGGAGTTAATGGGTCTCTCTTCACCTCCTCTCGGCTG
TTCTTCGCTGGAGCCCGAGAGGGCCACCTTCCCAGTGTGTTGGCCATGATCCACGTGAAG
CGCTGCACCCCAATCCCAGCCCTGCTCTTCACATGCATCTCCACCCTGCTGATGCTGGTC
ACCAGCGACATGTACACACTCATCAACTACGTGGGCTTCATCAACTACCTCTTCTATGGG
GTCACGGTTGCTGGACAGATAGTCCTTCGCTGGAAGAAGCCTGATATCCCCCGCCCCATC
AAGATCAACCTGCTGTTCCCCATCATCTACTTGCTGTTCTGGGCCTTCCTGCTGGTCTTC
AGCCTGTGGTCAGAGCCGGTGGTGTGTGGCATTGGCCTGGCCATCATGCTGACAGGAGTG
CCTGTCTATTTCCTGGGTGTTTACTGGCAACACAAGCCCAAGTGTTTCAGTGACTTCATT
GAGCTGCTAACCCTGGTGAGCCAGAAGATGTGTGTGGTCGTGTACCCCGAGGTGGAGCGG
GGCTCAGGGACAGAGGAGGCTAATGAGGACATGGAGGAGCAGCAGCAGCCCATGTACCAA
CCCACTCCCACGAAGGACAAGGACGTGGCGGGGCAGCCCCAGCCCTGA
|
| Enzyme 30 GenBank Gene ID |
AB037669  |
| Enzyme 30 GeneCard ID |
SLC7A8  |
| Enzyme 30 GenAtlas ID |
SLC7A8  |
| Enzyme 30 HGNC ID |
HGNC:11066  |
| Enzyme 30 Chromosome Location |
1 |
| Enzyme 30 Locus |
14q11.2 |
| Enzyme 30 SNPs |
SNPJam Report  |
| Enzyme 30 General References |
- Pineda M, Fernandez E, Torrents D, Estevez R, Lopez C, Camps M, Lloberas J, Zorzano A, Palacin M: Identification of a membrane protein, LAT-2, that Co-expresses with 4F2 heavy chain, an L-type amino acid transport activity with broad specificity for small and large zwitterionic amino acids. J Biol Chem. 1999 Jul 9;274(28):19738-44. [PubMed
]
- Rossier G, Meier C, Bauch C, Summa V, Sordat B, Verrey F, Kuhn LC: LAT2, a new basolateral 4F2hc/CD98-associated amino acid transporter of kidney and intestine. J Biol Chem. 1999 Dec 3;274(49):34948-54. [PubMed
]
- Borsani G, Bassi MT, Sperandeo MP, De Grandi A, Buoninconti A, Riboni M, Manzoni M, Incerti B, Pepe A, Andria G, Ballabio A, Sebastio G: SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. Nat Genet. 1999 Mar;21(3):297-301. [PubMed
]
- Park SY, Kim JK, Kim IJ, Choi BK, Jung KY, Lee S, Park KJ, Chairoungdua A, Kanai Y, Endou H, Kim DK: Reabsorption of neutral amino acids mediated by amino acid transporter LAT2 and TAT1 in the basolateral membrane of proximal tubule. Arch Pharm Res. 2005 Apr;28(4):421-32. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Broer A, Friedrich B, Wagner CA, Fillon S, Ganapathy V, Lang F, Broer S: Association of 4F2hc with light chains LAT1, LAT2 or y+LAT2 requires different domains. Biochem J. 2001 May 1;355(Pt 3):725-31. [PubMed
]
- Simmons-Willis TA, Koh AS, Clarkson TW, Ballatori N: Transport of a neurotoxicant by molecular mimicry: the methylmercury-L-cysteine complex is a substrate for human L-type large neutral amino acid transporter (LAT) 1 and LAT2. Biochem J. 2002 Oct 1;367(Pt 1):239-46. [PubMed
]
- Liu X, Charrier L, Gewirtz A, Sitaraman S, Merlin D: CD98 and intracellular adhesion molecule I regulate the activity of amino acid transporter LAT-2 in polarized intestinal epithelia. J Biol Chem. 2003 Jun 27;278(26):23672-7. Epub 2003 Apr 25. [PubMed
]
- Gandhi MD, Pal D, Mitra AK: Identification and functional characterization of a Na(+)-independent large neutral amino acid transporter (LAT2) on ARPE-19 cells. Int J Pharm. 2004 May 4;275(1-2):189-200. [PubMed
]
- Fraga S, Pinho MJ, Soares-da-Silva P: Expression of LAT1 and LAT2 amino acid transporters in human and rat intestinal epithelial cells. Amino Acids. 2005 Nov;29(3):229-33. Epub 2005 Jul 20. [PubMed
]
- Li S, Whorton AR: Identification of stereoselective transporters for S-nitroso-L-cysteine: role of LAT1 and LAT2 in biological activity of S-nitrosothiols. J Biol Chem. 2005 May 20;280(20):20102-10. Epub 2005 Mar 15. [PubMed
]
|
| Enzyme 30 Metabolite References |
Not Available |
|
Enzyme 31
[top]
|
| Enzyme 31 ID |
7892 |
| Enzyme 31 Name |
Sodium- and chloride-dependent glycine transporter 1 |
| Enzyme 31 Synonyms |
- GlyT-1
- GlyT1
- Solute carrier family 6 member 9
|
| Enzyme 31 Gene Name |
SLC6A9 |
| Enzyme 31 Protein Sequence |
>Sodium- and chloride-dependent glycine transporter 1
MSGGDTRAAIARPRMAAAHGPVAPSSPEQVTLLPVQRSFFLPPFSGATPSTSLAESVLKV
WHGAYNSGLLPQLMAQHSLAMAQNGAVPSEATKRDQNLKRGNWGNQIEFVLTSVGYAVGL
GNVWRFPYLCYRNGGGAFMFPYFIMLIFCGIPLFFMELSFGQFASQGCLGVWRISPMFKG
VGYGMMVVSTYIGIYYNVVICIAFYYFFSSMTHVLPWAYCNNPWNTHDCAGVLDASNLTN
GSRPAALPSNLSHLLNHSLQRTSPSEEYWRLYVLKLSDDIGNFGEVRLPLLGCLGVSWLV
VFLCLIRGVKSSGKVVYFTATFPYVVLTILFVRGVTLEGAFDGIMYYLTPQWDKILEAKV
WGDAASQIFYSLGCAWGGLITMASYNKFHNNCYRDSVIISITNCATSVYAGFVIFSILGF
MANHLGVDVSRVADHGPGLAFVAYPEALTLLPISPLWSLLFFFMLILLGLGTQFCLLETL
VTAIVDEVGNEWILQKKTYVTLGVAVAGFLLGIPLTSQAGIYWLLLMDNYAASFSLVVIS
CIMCVAIMYIYGHRNYFQDIQMMLGFPPPLFFQICWRFVSPAIIFFILVFTVIQYQPITY
NHYQYPGWAVAIGFLMALSSVLCIPLYAMFRLCRTDGDTLLQRLKNATKPSRDWGPALLE
HRTGRYAPTIAPSPEDGFEVQPLHPDKAQIPIVGSNGSSRLQDSRI
|
| Enzyme 31 Number of Residues |
706 |
| Enzyme 31 Molecular Weight |
78259.6 |
| Enzyme 31 Theoretical pI |
7.98 |
| Enzyme 31 GO Classification |
| Function |
- neurotransmitter transporter activity
- neurotransmitter:sodium symporter activity
- organic acid transmembrane transporter activity
- organic acid:sodium symporter activity
- sodium:amino acid symporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- neurotransmitter transport
- transport
|
| Component |
- cell part
- integral to membrane
- integral to plasma membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 31 General Function |
Involved in neurotransmitter:sodium symporter activity |
| Enzyme 31 Specific Function |
Terminates the action of glycine by its high affinity sodium-dependent reuptake into presynaptic terminals. May play a role in regulation of glycine levels in NMDA receptor-mediated neurotransmission |
| Enzyme 31 Pathways |
Not Available |
| Enzyme 31 Reactions |
Not Available |
| Enzyme 31 Pfam Domain Function |
|
| Enzyme 31 Signals |
|
| Enzyme 31 Transmembrane Regions |
- 109-129
136-156
188-208
286-306
315-335
360-380
407-427
450-470
506-526
530-550
570-590
610-630
|
| Enzyme 31 Essentiality |
Not Available |
| Enzyme 31 GenBank ID Protein |
67782315  |
| Enzyme 31 UniProtKB/Swiss-Prot ID |
P48067  |
| Enzyme 31 UniProtKB/Swiss-Prot Entry Name |
SC6A9_HUMAN  |
| Enzyme 31 PDB ID |
Not Available |
| Enzyme 31 Cellular Location |
Not Available |
| Enzyme 31 Gene Sequence |
>2121 bp
ATGAGCGGCGGAGACACGCGGGCTGCGATCGCTCGCCCCAGGATGGCCGCGGCTCATGGA
CCTGTGGCCCCCTCTTCCCCAGAACAGGTGACGCTTCTCCCTGTTCAGAGATCCTTCTTC
CTGCCACCCTTTTCTGGAGCCACTCCCTCTACTTCCCTAGCAGAGTCTGTCCTCAAAGTC
TGGCATGGGGCCTACAACTCTGGTCTCCTTCCCCAACTCATGGCCCAGCACTCCCTAGCC
ATGGCCCAGAATGGTGCTGTGCCCAGCGAGGCCACCAAGAGGGACCAGAACCTCAAACGG
GGCAACTGGGGCAACCAGATCGAGTTTGTACTGACGAGCGTGGGCTATGCCGTGGGCCTG
GGCAATGTCTGGCGCTTCCCATACCTCTGCTATCGCAACGGGGGAGGCGCCTTCATGTTC
CCCTACTTCATCATGCTCATCTTCTGCGGGATCCCCCTCTTCTTCATGGAGCTCTCCTTC
GGCCAGTTTGCAAGCCAGGGGTGCCTGGGGGTCTGGAGGATCAGCCCCATGTTCAAAGGA
GTGGGCTATGGTATGATGGTGGTGTCCACCTACATCGGCATCTACTACAATGTGGTCATC
TGCATCGCCTTCTACTACTTCTTCTCGTCCATGACGCACGTGCTGCCCTGGGCCTACTGC
AATAACCCCTGGAACACGCATGACTGCGCCGGTGTACTGGACGCCTCCAACCTCACCAAT
GGCTCTCGGCCAGCCGCCTTGCCCAGCAACCTCTCCCACCTGCTCAACCACAGCCTCCAG
AGGACCAGCCCCAGCGAGGAGTACTGGAGGCTGTACGTGCTGAAGCTGTCAGATGACATT
GGGAACTTTGGGGAGGTGCGGCTGCCCCTCCTTGGCTGCCTCGGTGTCTCCTGGTTGGTC
GTCTTCCTCTGCCTCATCCGAGGGGTCAAGTCTTCAGGGAAAGTGGTGTACTTCACGGCC
ACGTTCCCCTACGTGGTGCTGACCATTCTGTTTGTCCGCGGAGTGACCCTGGAGGGAGCC
TTTGACGGCATCATGTACTACCTAACCCCGCAGTGGGACAAGATCCTGGAGGCCAAGGTG
TGGGGTGATGCTGCCTCCCAGATCTTCTACTCACTGGGCTGCGCGTGGGGAGGCCTCATC
ACCATGGCTTCCTACAACAAGTTCCACAATAACTGTTACCGGGACAGTGTCATCATCAGC
ATCACCAACTGTGCCACCAGCGTCTATGCTGGCTTCGTCATCTTCTCCATCCTCGGCTTC
ATGGCCAATCACCTGGGCGTGGATGTGTCCCGTGTGGCAGACCACGGCCCTGGCCTGGCC
TTCGTGGCTTACCCCGAGGCCCTCACACTACTTCCCATCTCCCCGCTGTGGTCTCTGCTC
TTCTTCTTCATGCTTATCCTGCTGGGGCTGGGCACTCAGTTCTGCCTCCTGGAGACGCTG
GTCACAGCCATTGTGGATGAGGTGGGGAATGAGTGGATCCTGCAGAAAAAGACCTATGTG
ACCTTGGGCGTGGCTGTGGCTGGCTTCCTGCTGGGCATCCCCCTCACCAGCCAGGCAGGC
ATCTATTGGCTGCTGCTGATGGACAACTATGCGGCCAGCTTCTCCTTGGTGGTCATCTCC
TGCATCATGTGTGTGGCCATCATGTACATCTACGGGCACCGGAACTACTTCCAGGACATC
CAGATGATGCTGGGATTCCCACCACCCCTCTTCTTTCAGATCTGCTGGCGCTTCGTCTCT
CCCGCCATCATCTTCTTTATTCTAGTTTTCACTGTGATCCAGTACCAGCCGATCACCTAC
AACCACTACCAGTACCCAGGCTGGGCCGTGGCCATTGGCTTCCTCATGGCTCTGTCCTCC
GTCCTCTGCATCCCCCTCTACGCCATGTTCCGGCTCTGCCGCACAGACGGGGACACCCTC
CTCCAGCGTTTGAAAAATGCCACAAAGCCAAGCAGAGACTGGGGCCCTGCCCTCCTGGAG
CACCGGACAGGGCGCTACGCCCCCACCATAGCCCCCTCTCCTGAGGACGGCTTCGAGGTC
CAGCCACTGCACCCGGACAAGGCGCAGATCCCCATTGTGGGCAGTAATGGCTCCAGCCGC
CTCCAGGACTCCCGGATATGA
|
| Enzyme 31 GenBank Gene ID |
NM_201649.2  |
| Enzyme 31 GeneCard ID |
SLC6A9  |
| Enzyme 31 GenAtlas ID |
SLC6A9  |
| Enzyme 31 HGNC ID |
HGNC:11056  |
| Enzyme 31 Chromosome Location |
1 |
| Enzyme 31 Locus |
1p33 |
| Enzyme 31 SNPs |
SNPJam Report  |
| Enzyme 31 General References |
- Kim KM, Kingsmore SF, Han H, Yang-Feng TL, Godinot N, Seldin MF, Caron MG, Giros B: Cloning of the human glycine transporter type 1: molecular and pharmacological characterization of novel isoform variants and chromosomal localization of the gene in the human and mouse genomes. Mol Pharmacol. 1994 Apr;45(4):608-17. [PubMed
]
- Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C, Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K, Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C, Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G, Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V, Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M, Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J, French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM, Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD, Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S, Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S, Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K, Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G, Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL, Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z, Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R, Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S, Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD, Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF, Pandian RD, Porter KM, Prigmore E: The DNA sequence and biological annotation of human chromosome 1. Nature. 2006 May 18;441(7091):315-21. [PubMed
]
|
| Enzyme 31 Metabolite References |
Not Available |
|
Enzyme 32
[top]
|
| Enzyme 32 ID |
7930 |
| Enzyme 32 Name |
Solute carrier family 13 member 3 |
| Enzyme 32 Synonyms |
- Na(+)/dicarboxylate cotransporter 3
- NaDC-3
- hNaDC3
- Sodium-dependent high-affinity dicarboxylate transporter 2
|
| Enzyme 32 Gene Name |
SLC13A3 |
| Enzyme 32 Protein Sequence |
>Solute carrier family 13 member 3
MAALAAAAKKVWSARRLLVLLFTPLALLPVVFALPPKEGRCLFVILLMAVYWCTEALPLS
VTALLPIVLFPFMGILPSNKVCPQYFLDTNFLFLSGLIMASAIEEWNLHRRIALKILMLV
GVQPARLILGMMVTTSFLSMWLSNTASTAMMLPIANAILKSLFGQKEVRKDPSQESEENT
AAVRRNGLHTVPTEMQFLASTEAKDHPGETEVPLDLPADSRKEDEYRRNIWKGFLISIPY
SASIGGTATLTGTAPNLILLGQLKSFFPQCDVVNFGSWFIFAFPLMLLFLLAGWLWISFL
YGGLSFRGWRKNKSEIRTNAEDRARAVIREEYQNLGPIKFAEQAVFILFCMFAILLFTRD
PKFIPGWASLFNPGFLSDAVTGVAIVTILFFFPSQRPSLKWWFDFKAPNTETEPLLTWKK
AQETVPWNIILLLGGGFAMAKGCEESGLSVWIGGQLHPLENVPPALAVLLITVVIAFFTE
FASNTATIIIFLPVLAELAIRLRVHPLYLMIPGTVGCSFAFMLPVSTPPNSIAFASGHLL
VKDMVRTGLLMNLMGVLLLSLAMNTWAQTIFQLGTFPDWADMYSVNVTALPPTLANDTFR
TL
|
| Enzyme 32 Number of Residues |
602 |
| Enzyme 32 Molecular Weight |
66840.4 |
| Enzyme 32 Theoretical pI |
8.47 |
| Enzyme 32 GO Classification |
| Function |
|
| Process |
- cation transport
- establishment of localization
- ion transport
- monovalent inorganic cation transport
- sodium ion transport
- transmembrane transport
- transport
|
| Component |
|
|
| Enzyme 32 General Function |
Involved in transporter activity |
| Enzyme 32 Specific Function |
High-affinity sodium-dicarboxylate cotransporter that accepts a range of substrates with 4-5 carbon atoms. The stoichiometry is probably 3 Na(+) for 1 divalent succinate |
| Enzyme 32 Pathways |
Not Available |
| Enzyme 32 Reactions |
Not Available |
| Enzyme 32 Pfam Domain Function |
|
| Enzyme 32 Signals |
|
| Enzyme 32 Transmembrane Regions |
- 17-37
56-76
83-103
139-159
230-250
279-299
337-357
373-393
462-482
506-526
547-567
|
| Enzyme 32 Essentiality |
Not Available |
| Enzyme 32 GenBank ID Protein |
8132324  |
| Enzyme 32 UniProtKB/Swiss-Prot ID |
Q8WWT9  |
| Enzyme 32 UniProtKB/Swiss-Prot Entry Name |
S13A3_HUMAN  |
| Enzyme 32 PDB ID |
Not Available |
| Enzyme 32 Cellular Location |
Not Available |
| Enzyme 32 Gene Sequence |
>1809 bp
ATGGCGGCGCTGGCAGCAGCGGCCAAGAAGGTGTGGAGCGCGCGGCGGCTGCTGGTGCTG
CTGTTCACGCCGCTCGCGCTGCTGCCGGTGGTCTTCGCCCTCCCGCCCAAGGAAGGCCGC
TGCTTGTTTGTCATCCTGCTCATGGCGGTGTACTGGTGCACGGAGGCCCTGCCGCTCTCA
GTGACGGCGCTGCTGCCCATCGTCCTCTTCCCCTTCATGGGCATCTTGCCCTCCAACAAG
GTCTGCCCCCAGTACTTCCTCGACACCAACTTCCTCTTCCTCAGTGGGCTGATCATGGCC
AGCGCCATTGAGGAGTGGAACCTGCACCGGCGAATCGCCCTCAAGATCCTGATGCTTGTT
GGAGTCCAGCCGGCCAGGCTCATCCTGGGGATGATGGTGACCACCTCGTTCTTGTCCATG
TGGCTGAGCAACACCGCCTCCACTGCCATGATGCTTCCAATTGCCAATGCCATCCTGAAA
AGTCTCTTTGGCCAGAAGGAGGTTCGAAAGGACCCCAGCCAGGAGAGTGAAGAGAACACA
GCTGCTGTGCGGAGAAACGGCTACACACTGTGCCCACGGAGATGCAGTTTCTCGCCAAGC
ACAGAAGCCAAAGACCACCCTGGGGAGACAGAGGTTCCACTGGATCTGCCGGCTGACTCC
AGGAAGGAGGATGAATATCGTCGGAACATCTGGAAGGGCTTCCTCATCTCCATCCCCTAC
TCAGCCAGTATTGGGGGCACAGCCACACTCACGGGCACAGCCCCTAACCTCATCCTGCTT
GGCCAGCTCAAGAGTTTCTTTCCGCAGTGTGACGTGGTGAATTTCGGCTCCTGGTTCATT
TTCGCCTTCCCTCTTATGCTGTTGTTCCTGTTGGCAGGCTGGCTCTGGATCTCCTTCCTG
TACGGGGGACTGAGCTTCAGGGGCTGGAGGAAGAATAAATCTGAGATAAGAACCAATGCA
GAAGATAGGGCTCGAGCTGTAATTCGGGAAGAATACCAGAACCTGGGGCCCATCAAGTTT
GCCGAACAGGCTGTTTTCATCCTTTTCTGCATGTTTGCCATCCTCCTCTTCACCCGGGAC
CCGAAGTTCATCCCTGGCTGGGCCAGCCTCTTCAATCCTGGGTTTCTTTCTGATGCTGTC
ACCGGCGTGGCTATTGTCACCATCTTGTTCTTCTTCCCGTCCCAAAGGCCCTCTCTCAAG
TGGTGGTTTGACTTCAAAGCTCCCAACACAGAGACAGAGCCCTTGCTGACCTGGAAGAAG
GCCCAGGAGACAGTGCCCTGGAACATCATCCTTCTCCTGGGAGGGGGCTTCGCCATGGCC
AAAGGCTGTGAGGAATCGGGGCTGTCTGTATGGATTGGTGGGCAGCTGCACCCCCTGGAG
AATGTGCCCCCCGCCCTGGCTGTGCTGCTCATCACTGTGGTCATCGCCTTCTTCACTGAG
TTTGCCAGCAACACGGCGACCATCATCATCTTCCTGCCGGTCCTGGCAGAGCTGGCCATC
CGCCTGAGAGTGCACCCCCTGTATCTGATGATTCCGGGCACAGTCGGCTGCTCCTTTGCC
TTCATGCTCCCGGTCTCAACGCCCCCCAACTCCATCGCCTTCGCCTCTGGACACTTGCTG
GTCAAAGACATGGTGCGGACAGGCCTCCTGATGAACCTGATGGGTGTCCTGCTGCTCAGT
TTGGCTATGAATACCTGGGCACAGACCATCTTCCAGCTGGGCACCTTCCCGGACTGGGCT
GATATGTACTCGGTCAATGTCACAGCATTGCCACCCACCTTGGCCAATGACACATTTCGG
ACCCTCTGA
|
| Enzyme 32 GenBank Gene ID |
AF154121  |
| Enzyme 32 GeneCard ID |
SLC13A3  |
| Enzyme 32 GenAtlas ID |
SLC13A3  |
| Enzyme 32 HGNC ID |
HGNC:14430  |
| Enzyme 32 Chromosome Location |
2 |
| Enzyme 32 Locus |
20q12-q13.1 |
| Enzyme 32 SNPs |
SNPJam Report  |
| Enzyme 32 General References |
- Wang H, Fei YJ, Kekuda R, Yang-Feng TL, Devoe LD, Leibach FH, Prasad PD, Ganapathy V: Structure, function, and genomic organization of human Na(+)-dependent high-affinity dicarboxylate transporter. Am J Physiol Cell Physiol. 2000 May;278(5):C1019-30. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M, Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE, Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C, Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A, Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA, Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S, Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K, Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A, Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM, Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ, Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE, Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C, Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L, Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA, Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S, Rogers J: The DNA sequence and comparative analysis of human chromosome 20. Nature. 2001 Dec 20-27;414(6866):865-71. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Bechtel S, Rosenfelder H, Duda A, Schmidt CP, Ernst U, Wellenreuther R, Mehrle A, Schuster C, Bahr A, Blocker H, Heubner D, Hoerlein A, Michel G, Wedler H, Kohrer K, Ottenwalder B, Poustka A, Wiemann S, Schupp I: The full-ORF clone resource of the German cDNA Consortium. BMC Genomics. 2007 Oct 31;8:399. [PubMed
]
|
| Enzyme 32 Metabolite References |
Not Available |
|
Enzyme 33
[top]
|
| Enzyme 33 ID |
7933 |
| Enzyme 33 Name |
Solute carrier family 22 member 4 |
| Enzyme 33 Synonyms |
- Ergothioneine transporter
- ET transporter
- Organic cation/carnitine transporter 1
|
| Enzyme 33 Gene Name |
SLC22A4 |
| Enzyme 33 Protein Sequence |
>Solute carrier family 22 member 4
MRDYDEVIAFLGEWGPFQRLIFFLLSASIIPNGFNGMSVVFLAGTPEHRCRVPDAANLSS
AWRNNSVPLRLRDGREVPHSCSRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFS
QDVYLSTVVTEWNLVCEDNWKVPLTTSLFFVGVLLGSFVSGQLSDRFGRKNVLFATMAVQ
TGFSFLQIFSISWEMFTVLFVIVGMGQISNYVVAFILGTEILGKSVRIIFSTLGVCTFFA
VGYMLLPLFAYFIRDWRMLLLALTVPGVLCVPLWWFIPESPRWLISQRRFREAEDIIQKA
AKMNNIAVPAVIFDSVEELNPLKQQKAFILDLFRTRNIAIMTIMSLLLWMLTSVGYFALS
LDAPNLHGDAYLNCFLSALIEIPAYITAWLLLRTLPRRYIIAAVLFWGGGVLLFIQLVPV
DYYFLSIGLVMLGKFGITSAFSMLYVFTAELYPTLVRNMAVGVTSTASRVGSIIAPYFVY
LGAYNRMLPYIVMGSLTVLIGILTLFFPESLGMTLPETLEQMQKVKWFRSGKKTRDSMET
EENPKVLITAF
|
| Enzyme 33 Number of Residues |
551 |
| Enzyme 33 Molecular Weight |
62154.5 |
| Enzyme 33 Theoretical pI |
7.27 |
| Enzyme 33 GO Classification |
| Function |
- ion transmembrane transporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- ion transport
- transmembrane transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 33 General Function |
Involved in ion transmembrane transporter activity |
| Enzyme 33 Specific Function |
Sodium-ion dependent, low affinity carnitine transporter. Probably transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Relative uptake activity ratio of carnitine to TEA is 1.78. A key substrate of this transporter seems to be ergothioneine (ET) |
| Enzyme 33 Pathways |
Not Available |
| Enzyme 33 Reactions |
Not Available |
| Enzyme 33 Pfam Domain Function |
|
| Enzyme 33 Signals |
|
| Enzyme 33 Transmembrane Regions |
- 21-41
142-162
172-192
198-218
233-253
258-278
338-358
372-392
400-420
427-447
461-481
487-507
|
| Enzyme 33 Essentiality |
Not Available |
| Enzyme 33 GenBank ID Protein |
2605501  |
| Enzyme 33 UniProtKB/Swiss-Prot ID |
Q9H015  |
| Enzyme 33 UniProtKB/Swiss-Prot Entry Name |
S22A4_HUMAN  |
| Enzyme 33 PDB ID |
Not Available |
| Enzyme 33 Cellular Location |
Not Available |
| Enzyme 33 Gene Sequence |
>1656 bp
ATGCGGGACTACGACGAGGTGATCGCCTTCCTGGGCGAGTGGGGGCCCTTCCAGCGCCTC
ATCTTCTTCCTGCTCAGCGCCAGCATCATCCCCAATGGCTTCAATGGTATGTCAGTCGTG
TTCCTGGCGGGGACCCCGGAGCACCGCTGTCGAGTGCCGGACGCCGCGAACCTGAGCAGC
GCCTGGCGCAACAACAGTGTCCCGCTGCGGCTGCGGGACGGCCGCGAGGTGCCCCACAGC
TGCAGCCGCTACCGGCTCGCCACCATCGCCAACTTCTCGGCGCTCGGGCTGGAGCCGGGG
CGCGACGTGGACCTGGGGCAGCTGGAGCAGGAGAGCTGCCTGGATGGCTGGGAGTTCAGC
CAGGACGTCTACCTGTCCACCGTCGTGACCGAGTGGAATCTGGTGTGTGAGGACAACTGG
AAGGTGCCCCTCACCACCTCCCTGTTCTTCGTAGGCGTGCTCCTCGGCTCCTTCGTGTCC
GGGCAGCTGTCAGACAGGTTTGGCAGGAAGAACGTTCTCTTCGCAACCATGGCTGTACAG
ACTGGCTTCAGCTTCCTGCAGATTTTCTCCATCAGCTGGGAGATGTTCACTGTGTTATTT
GTCATCGTGGGCATGGGCCAGATCTCCAACTATGTGGTAGCCTTCATACTAGGAACAGAA
ATTCTTGGCAAGTCAGTTCGTATTATATTCTCTACATTAGGAGTGTGCACATTTTTTGCA
GTTGGCTATATGCTGCTGCCACTGTTTGCTTACTTCATCAGAGACTGGCGGATGCTGCTG
CTGGCGCTGACGGTGCCGGGAGTGCTGTGTGTCCCGCTGTGGTGGTTCATTCCTGAATCT
CCCCGATGGCTGATATCCCAGAGAAGATTTAGAGAGGCTGAAGATATCATCCAAAAAGCT
GCAAAAATGAACAACACAGCTGTACCAGCAGTGATATTTGATTCTGTGGAGGAGCTAAAT
CCCCTGAAGCAGCAGAAAGCTTTCATTCTGGACCTGTTCAGGACTCGGAATATTGCCATA
ATGACCATTATGTCTTTGCTGCTATGGATGCTGACCTCAGTGGGTTACTTTGCTCTGTCT
CTGGATGCTCCTAATTTACATGGAGATGCCTACCTGAACTGTTTCCTCTCTGCCTTGATT
GAAATTCCAGCTTACATTACAGCCTGGCTGCTATTGCGAACGCTGCCCAGGCGTTATATC
ATAGCTGCAGTACTGTTCTGGGGAGGAGGTGTGCTTCTCTTCATTCAACTGGTACCTGTG
GATTATTACTTCTTATCCATTGGTCTGGTCATGCTGGGAAAATTTGGGATCACCTCTGCT
TTCTCCATGCTGTATGTCTTCACTGCTGAGCTCTACCCAACCCTGGTCAGGAACATGGCG
GTGGGGGTCACATCCACGGCCTCCAGAGTGGGCAGCATCATTGCCCCCTACTTTGTTTAC
CTCGGTGCTTACAACAGAATGCTGCCCTACATCGTCATGGGTAGTCTGACTGTCCTGATT
GGAATCTTCACCCTTTTTTTCCCTGAAAGTTTGGGAATGACTCTTCCAGAAACCTTAGAG
CAGATGCAGAAAGTGAAATGGTTCAGATCTGGGAAAAAAACAAGAGACTCAATGGAGACA
GAAGAAAATCCCAAGGTTCTAATAACTGCATTCTGA
|
| Enzyme 33 GenBank Gene ID |
AB007448  |
| Enzyme 33 GeneCard ID |
SLC22A4  |
| Enzyme 33 GenAtlas ID |
SLC22A4  |
| Enzyme 33 HGNC ID |
HGNC:10968  |
| Enzyme 33 Chromosome Location |
5 |
| Enzyme 33 Locus |
5q31.1 |
| Enzyme 33 SNPs |
SNPJam Report  |
| Enzyme 33 General References |
- Tamai I, Yabuuchi H, Nezu J, Sai Y, Oku A, Shimane M, Tsuji A: Cloning and characterization of a novel human pH-dependent organic cation transporter, OCTN1. FEBS Lett. 1997 Dec 8;419(1):107-11. [PubMed
]
- Grundemann D, Harlfinger S, Golz S, Geerts A, Lazar A, Berkels R, Jung N, Rubbert A, Schomig E: Discovery of the ergothioneine transporter. Proc Natl Acad Sci U S A. 2005 Apr 5;102(14):5256-61. Epub 2005 Mar 28. [PubMed
]
- Schmutz J, Martin J, Terry A, Couronne O, Grimwood J, Lowry S, Gordon LA, Scott D, Xie G, Huang W, Hellsten U, Tran-Gyamfi M, She X, Prabhakar S, Aerts A, Altherr M, Bajorek E, Black S, Branscomb E, Caoile C, Challacombe JF, Chan YM, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Glavina T, Gomez M, Gonzales E, Goodstein D, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Lopez F, Lou Y, Martinez D, Medina C, Morgan J, Nandkeshwar R, Noonan JP, Pitluck S, Pollard M, Predki P, Priest J, Ramirez L, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wheeler J, Wu K, Yang J, Dickson M, Cheng JF, Eichler EE, Olsen A, Pennacchio LA, Rokhsar DS, Richardson P, Lucas SM, Myers RM, Rubin EM: The DNA sequence and comparative analysis of human chromosome 5. Nature. 2004 Sep 16;431(7006):268-74. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Yabuuchi H, Tamai I, Nezu J, Sakamoto K, Oku A, Shimane M, Sai Y, Tsuji A: Novel membrane transporter OCTN1 mediates multispecific, bidirectional, and pH-dependent transport of organic cations. J Pharmacol Exp Ther. 1999 May;289(2):768-73. [PubMed
]
- Tokuhiro S, Yamada R, Chang X, Suzuki A, Kochi Y, Sawada T, Suzuki M, Nagasaki M, Ohtsuki M, Ono M, Furukawa H, Nagashima M, Yoshino S, Mabuchi A, Sekine A, Saito S, Takahashi A, Tsunoda T, Nakamura Y, Yamamoto K: An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis. Nat Genet. 2003 Dec;35(4):341-8. Epub 2003 Nov 9. [PubMed
]
- Saito S, Iida A, Sekine A, Ogawa C, Kawauchi S, Higuchi S, Nakamura Y: Catalog of 238 variations among six human genes encoding solute carriers ( hSLCs) in the Japanese population. J Hum Genet. 2002;47(11):576-84. [PubMed
]
- Kawasaki Y, Kato Y, Sai Y, Tsuji A: Functional characterization of human organic cation transporter OCTN1 single nucleotide polymorphisms in the Japanese population. J Pharm Sci. 2004 Dec;93(12):2920-6. [PubMed
]
- Peltekova VD, Wintle RF, Rubin LA, Amos CI, Huang Q, Gu X, Newman B, Van Oene M, Cescon D, Greenberg G, Griffiths AM, St George-Hyslop PH, Siminovitch KA: Functional variants of OCTN cation transporter genes are associated with Crohn disease. Nat Genet. 2004 May;36(5):471-5. Epub 2004 Apr 11. [PubMed
]
|
| Enzyme 33 Metabolite References |
Not Available |
|
Enzyme 34
[top]
|
| Enzyme 34 ID |
7956 |
| Enzyme 34 Name |
Ileal sodium/bile acid cotransporter |
| Enzyme 34 Synonyms |
- Apical sodium-dependent bile acid transporter
- ASBT
- Ileal Na(+)/bile acid cotransporter
- Ileal sodium-dependent bile acid transporter
- IBAT
- ISBT
- Na(+)-dependent ileal bile acid transporter
- Sodium/taurocholate cotransporting polypeptide, ileal
- Solute carrier family 10 member 2
|
| Enzyme 34 Gene Name |
SLC10A2 |
| Enzyme 34 Protein Sequence |
>Ileal sodium/bile acid cotransporter
MNDPNSCVDNATVCSGASCVVPESNFNNILSVVLSTVLTILLALVMFSMGCNVEIKKFLG
HIKRPWGICVGFLCQFGIMPLTGFILSVAFDILPLQAVVVLIIGCCPGGTASNILAYWVD
GDMDLSVSMTTCSTLLALGMMPLCLLIYTKMWVDSGSIVIPYDNIGTSLVALVVPVSIGM
FVNHKWPQKAKIILKIGSIAGAILIVLIAVVGGILYQSAWIIAPKLWIIGTIFPVAGYSL
GFLLARIAGLPWYRCRTVAFETGMQNTQLCSTIVQLSFTPEELNVVFTFPLIYSIFQLAF
AAIFLGFYVAYKKCHGKNKAEIPESKENGTEPESSFYKANGGFQPDEK
|
| Enzyme 34 Number of Residues |
348 |
| Enzyme 34 Molecular Weight |
37697.4 |
| Enzyme 34 Theoretical pI |
7.13 |
| Enzyme 34 GO Classification |
| Function |
- bile acid:sodium symporter activity
- organic acid transmembrane transporter activity
- organic acid:sodium symporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- anion transport
- cation transport
- establishment of localization
- ion transport
- monovalent inorganic cation transport
- organic anion transport
- sodium ion transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 34 General Function |
Involved in bile acid:sodium symporter activity |
| Enzyme 34 Specific Function |
Plays a critical role in the sodium-dependent reabsorption of bile acids from the lumen of the small intestine. Plays a key role in cholesterol metabolism |
| Enzyme 34 Pathways |
Not Available |
| Enzyme 34 Reactions |
Not Available |
| Enzyme 34 Pfam Domain Function |
|
| Enzyme 34 Signals |
|
| Enzyme 34 Transmembrane Regions |
- 29-49
83-103
127-147
158-178
196-216
225-245
285-305
|
| Enzyme 34 Essentiality |
Not Available |
| Enzyme 34 GenBank ID Protein |
Not Available |
| Enzyme 34 UniProtKB/Swiss-Prot ID |
Q12908  |
| Enzyme 34 UniProtKB/Swiss-Prot Entry Name |
NTCP2_HUMAN  |
| Enzyme 34 PDB ID |
Not Available |
| Enzyme 34 Cellular Location |
Not Available |
| Enzyme 34 Gene Sequence |
>1047 bp
ATGAATGATCCGAACAGCTGTGTGGACAATGCAACAGTTTGCTCTGGTGCATCCTGTGTG
GTACCTGAGAGCAATTTCAATAACATCCTAAGTGTGGTCCTAAGTACGGTGCTGACCATC
CTGTTGGCCTTGGTGATGTTCTCCATGGGATGCAACGTGGAAATCAAGAAATTTCTAGGG
CACATAAAGCGGCCGTGGGGCATTTGTGTTGGCTTCCTCTGTCAGTTTGGAATCATGCCC
CTCACAGGATTCATCCTGTCGGTGGCCTTTGACATCCTCCCGCTCCAGGCCGTAGTGGTG
CTCATTATAGGATGCTGCCCTGGAGGAACTGCCTCCAATATCTTGGCCTATTGGGTCGAT
GGCGACATGGACCTGAGCGTCAGCATGACCACATGCTCCACACTGCTTGCCCTCGGAATG
ATGCCGCTGTGCCTCCTTATCTATACCAAAATGTGGGTCGACTCTGGGAGCATCGTAATT
CCCTATGATAACATAGGTACATCTCTGGTTGCTCTCGTTGTTCCTGTTTCCATTGGAATG
TTTGTTAATCACAAATGGCCCCAAAAAGCAAAGATCATACTTAAAATTGGGTCCATCGCG
GGCGCCATCCTCATTGTGCTCATAGCTGTGGTTGGAGGAATATTGTACCAAAGCGCCTGG
ATCATTGCTCCCAAACTGTGGATTATAGGAACAATATTTCCTGTGGCGGGTTACTCCCTG
GGGTTTCTTCTGGCTAGAATTGCTGGTCTACCCTGGTACAGGTGCCGAACGGTTGCTTTT
GAAACGGGGATGCAGAACACGCAGCTATGTTCCACCATCGTTCAGCTCTCCTTCACTCCT
GAGGAGCTCAATGTCGTATTCACCTTCCCGCTCATCTACAGCATTTTCCAGCTCGCCTTT
GCCGCAATATTCTTAGGATTTTATGTGGCATACAAGAAATGTCATGGAAAAAACAAGGCA
GAAATTCCAGAGAGCAAAGAAAATGGAACGGAGCCAGAGTCATCGTTTTATAAGGCAAAT
GGAGGATTTCAACCTGACGAAAAGTAG
|
| Enzyme 34 GenBank Gene ID |
U10417  |
| Enzyme 34 GeneCard ID |
SLC10A2  |
| Enzyme 34 GenAtlas ID |
SLC10A2  |
| Enzyme 34 HGNC ID |
HGNC:10906  |
| Enzyme 34 Chromosome Location |
1 |
| Enzyme 34 Locus |
13q33 |
| Enzyme 34 SNPs |
SNPJam Report  |
| Enzyme 34 General References |
- Wong MH, Oelkers P, Dawson PA: Identification of a mutation in the ileal sodium-dependent bile acid transporter gene that abolishes transport activity. J Biol Chem. 1995 Nov 10;270(45):27228-34. [PubMed
]
- Oelkers P, Kirby LC, Heubi JE, Dawson PA: Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2). J Clin Invest. 1997 Apr 15;99(8):1880-7. [PubMed
]
- Chumakov I, Blumenfeld M, Guerassimenko O, Cavarec L, Palicio M, Abderrahim H, Bougueleret L, Barry C, Tanaka H, La Rosa P, Puech A, Tahri N, Cohen-Akenine A, Delabrosse S, Lissarrague S, Picard FP, Maurice K, Essioux L, Millasseau P, Grel P, Debailleul V, Simon AM, Caterina D, Dufaure I, Malekzadeh K, Belova M, Luan JJ, Bouillot M, Sambucy JL, Primas G, Saumier M, Boubkiri N, Martin-Saumier S, Nasroune M, Peixoto H, Delaye A, Pinchot V, Bastucci M, Guillou S, Chevillon M, Sainz-Fuertes R, Meguenni S, Aurich-Costa J, Cherif D, Gimalac A, Van Duijn C, Gauvreau D, Ouellette G, Fortier I, Raelson J, Sherbatich T, Riazanskaia N, Rogaev E, Raeymaekers P, Aerssens J, Konings F, Luyten W, Macciardi F, Sham PC, Straub RE, Weinberger DR, Cohen N, Cohen D: Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia. Proc Natl Acad Sci U S A. 2002 Oct 15;99(21):13675-80. Epub 2002 Oct 3. [PubMed
]
- Dunham A, Matthews LH, Burton J, Ashurst JL, Howe KL, Ashcroft KJ, Beare DM, Burford DC, Hunt SE, Griffiths-Jones S, Jones MC, Keenan SJ, Oliver K, Scott CE, Ainscough R, Almeida JP, Ambrose KD, Andrews DT, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Bannerjee R, Barlow KF, Bates K, Beasley H, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burrill W, Carder C, Carter NP, Chapman JC, Clamp ME, Clark SY, Clarke G, Clee CM, Clegg SC, Cobley V, Collins JE, Corby N, Coville GJ, Deloukas P, Dhami P, Dunham I, Dunn M, Earthrowl ME, Ellington AG, Faulkner L, Frankish AG, Frankland J, French L, Garner P, Garnett J, Gilbert JG, Gilson CJ, Ghori J, Grafham DV, Gribble SM, Griffiths C, Hall RE, Hammond S, Harley JL, Hart EA, Heath PD, Howden PJ, Huckle EJ, Hunt PJ, Hunt AR, Johnson C, Johnson D, Kay M, Kimberley AM, King A, Laird GK, Langford CJ, Lawlor S, Leongamornlert DA, Lloyd DM, Lloyd C, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, McLaren SJ, McMurray A, Milne S, Moore MJ, Nickerson T, Palmer SA, Pearce AV, Peck AI, Pelan S, Phillimore B, Porter KM, Rice CM, Searle S, Sehra HK, Shownkeen R, Skuce CD, Smith M, Steward CA, Sycamore N, Tester J, Thomas DW, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Wilming L, Wray PW, Wright MW, Young L, Coulson A, Durbin R, Hubbard T, Sulston JE, Beck S, Bentley DR, Rogers J, Ross MT: The DNA sequence and analysis of human chromosome 13. Nature. 2004 Apr 1;428(6982):522-8. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Zhang EY, Phelps MA, Banerjee A, Khantwal CM, Chang C, Helsper F, Swaan PW: Topology scanning and putative three-dimensional structure of the extracellular binding domains of the apical sodium-dependent bile acid transporter (SLC10A2). Biochemistry. 2004 Sep 14;43(36):11380-92. [PubMed
]
- Love MW, Craddock AL, Angelin B, Brunzell JD, Duane WC, Dawson PA: Analysis of the ileal bile acid transporter gene, SLC10A2, in subjects with familial hypertriglyceridemia. Arterioscler Thromb Vasc Biol. 2001 Dec;21(12):2039-45. [PubMed
]
- Montagnani M, Love MW, Rossel P, Dawson PA, Qvist P: Absence of dysfunctional ileal sodium-bile acid cotransporter gene mutations in patients with adult-onset idiopathic bile acid malabsorption. Scand J Gastroenterol. 2001 Oct;36(10):1077-80. [PubMed
]
|
| Enzyme 34 Metabolite References |
Not Available |
|
Enzyme 35
[top]
|
| Enzyme 35 ID |
8040 |
| Enzyme 35 Name |
Low affinity sodium-glucose cotransporter |
| Enzyme 35 Synonyms |
- Sodium/glucose cotransporter 3
- Na(+)/glucose cotransporter 3
- Solute carrier family 5 member 4
|
| Enzyme 35 Gene Name |
SLC5A4 |
| Enzyme 35 Protein Sequence |
>Low affinity sodium-glucose cotransporter
MASTVSPSTIAETPEPPPLSDHIRNAADISVIVIYFLVVMAVGLWAMLKTNRGTIGGFFL
AGRDMAWWPMGASLFASNIGSNHYVGLAGTGAASGVATVTFEWTSSVMLLILGWIFVPIY
IKSGVMTMPEYLKKRFGGERLQVYLSILSLFICVVLLISADIFAGAIFIKLALGLDLYLA
IFILLAMTAVYTTTGGLASVIYTDTLQTIIMLIGSFILMGFAFNEVGGYESFTEKYVNAT
PSVVEGDNLTISASCYTPRADSFHIFRDAVTGDIPWPGIIFGMPITALWYWCTNQVIVQR
CLCGKDMSHVKAACIMCAYLKLLPMFLMVMPGMISRILYTDMVACVVPSECVKHCGVDVG
CTNYAYPTMVLELMPQGLRGLMLSVMLASLMSSLTSIFNSASTLFTIDLYTKMRKQASEK
ELLIAGRIFVLLLTVVSIVWVPLVQVSQNGQLIHYTESISSYLGPPIAAVFVLAIFCKRV
NEQGAFWGLMVGLAMGLIRMITEFAYGTGSCLAPSNCPKIICGVHYLYFSIVLFFGSMLV
TLGISLLTKPIPDVHLYRLCWVLRNSTEERIDIDAEEKSQEETDDGVEEDYPEKSRGCLK
KAYDLFCGLQKGPKLTKEEEEALSKKLTDTSERPSWRTIVNINAILLLAVVVFIHGYYA
|
| Enzyme 35 Number of Residues |
659 |
| Enzyme 35 Molecular Weight |
72454.8 |
| Enzyme 35 Theoretical pI |
6.06 |
| Enzyme 35 GO Classification |
| Function |
|
| Process |
- establishment of localization
- transmembrane transport
- transport
|
| Component |
|
|
| Enzyme 35 General Function |
Involved in transporter activity |
| Enzyme 35 Specific Function |
Sodium-dependent glucose transporter |
| Enzyme 35 Pathways |
Not Available |
| Enzyme 35 Reactions |
Not Available |
| Enzyme 35 Pfam Domain Function |
|
| Enzyme 35 Signals |
|
| Enzyme 35 Transmembrane Regions |
- 29-47
65-85
106-126
172-191
209-229
271-291
315-334
424-443
456-476
527-547
638-658
|
| Enzyme 35 Essentiality |
Not Available |
| Enzyme 35 GenBank ID Protein |
7263938  |
| Enzyme 35 UniProtKB/Swiss-Prot ID |
Q9NY91  |
| Enzyme 35 UniProtKB/Swiss-Prot Entry Name |
SC5A4_HUMAN  |
| Enzyme 35 PDB ID |
Not Available |
| Enzyme 35 Cellular Location |
Not Available |
| Enzyme 35 Gene Sequence |
>1980 bp
ATGGCCAGTACGGTTAGCCCCAGCACCATAGCTGAGACCCCAGAGCCACCTCCATTGTCT
GACCACATCCGAAATGCTGCTGACATCTCAGTCATTGTCATCTATTTTCTGGTGGTGATG
GCTGTTGGGCTGTGGGCGATGCTGAAGACCAACCGAGGTACTATAGGAGGCTTCTTCCTC
GCTGGTCGTGATATGGCCTGGTGGCCGATGGGCGCCTCTCTCTTTGCCAGTAACATCGGC
AGCAACCACTATGTGGGGCTGGCTGGGACAGGAGCAGCTTCAGGAGTCGCCACCGTAACA
TTTGAATGGACTTCCTCAGTAATGTTGCTGATTCTTGGGTGGATCTTTGTCCCTATCTAC
ATCAAGTCGGGGGTGATGACCATGCCGGAATATCTCAAGAAGCGGTTTGGTGGGGAGCGA
CTCCAGGTCTACCTCTCCATCCTCTCCCTCTTCATCTGTGTGGTTTTGTTAATTTCTGCA
GACATATTTGCTGGAGCCATATTCATCAAGCTGGCCTTGGGATTGGACCTTTACCTGGCA
ATCTTCATCCTCTTGGCTATGACTGCTGTTTACACCACCACTGGGGGCTTGGCCTCGGTG
ATTTACACAGACACCCTCCAGACCATCATCATGCTGATTGGCTCTTTTATTCTCATGGGG
TTTGCATTTAACGAAGTTGGAGGTTATGAGAGCTTTACCGAGAAGTACGTGAATGCCACC
CCATCCGTAGTCGAGGGGGACAACTTGACAATCAGTGCCAGTTGCTACACACCTCGGGCG
GACTCCTTCCATATCTTCCGAGATGCTGTGACTGGGGACATTCCATGGCCAGGAATTATA
TTTGGAATGCCCATTACAGCTTTGTGGTACTGGTGCACAAATCAGGTCATTGTGCAGCGC
TGCCTGTGTGGCAAGGACATGTCTCACGTGAAGGCCGCTTGCATTATGTGTGCTTACCTG
AAGCTGCTGCCCATGTTCCTCATGGTGATGCCGGGGATGATCAGCCGCATCCTGTACACA
GATATGGTAGCATGTGTGGTACCTTCTGAATGCGTGAAACACTGTGGCGTTGATGTTGGC
TGCACCAACTACGCATACCCCACGATGGTGCTGGAACTGATGCCCCAAGGACTGCGAGGC
CTGATGCTTTCGGTCATGCTGGCCTCTCTCATGAGCTCCCTGACCTCCATCTTCAACAGC
GCCAGCACCCTCTTCACCATTGACCTCTACACCAAGATGCGGAAGCAAGCGTCGGAGAAA
GAGCTCCTGATAGCTGGACGGATATTTGTTCTTCTATTAACTGTTGTGAGCATTGTGTGG
GTCCCACTGGTACAAGTTTCTCAAAATGGACAACTAATCCATTACACAGAATCAATTTCT
AGCTACCTTGGGCCTCCAATTGCAGCTGTCTTTGTGCTTGCCATCTTCTGTAAAAGAGTC
AATGAACAGGGAGCATTCTGGGGTCTAATGGTTGGACTTGCAATGGGCCTCATTCGTATG
ATAACAGAGTTTGCTTATGGAACAGGGAGTTGCTTGGCTCCCAGTAACTGTCCCAAGATT
ATCTGTGGAGTGCACTATCTGTACTTTTCCATCGTTCTCTTTTTTGGGTCCATGCTGGTC
ACCCTGGGAATTTCCCTCTTAACAAAACCCATTCCTGATGTACATCTGTACCGCCTGTGC
TGGGTTCTTCGGAACAGTACAGAGGAGCGAATCGATATAGATGCAGAAGAGAAAAGTCAG
GAAGAAACAGATGATGGTGTTGAAGAAGATTATCCTGAGAAATCACGTGGATGCCTCAAG
AAAGCTTATGACTTGTTCTGCGGTTTGCAGAAGGGACCCAAGCTAACCAAGGAGGAGGAG
GAAGCCTTGAGCAAGAAGCTCACAGACACGTCTGAGAGGCCCTCGTGGAGGACAATAGTG
AACATCAACGCCATCCTCCTCCTGGCTGTGGTGGTCTTTATTCACGGCTACTATGCCTGA
|
| Enzyme 35 GenBank Gene ID |
AJ133127  |
| Enzyme 35 GeneCard ID |
SLC5A4  |
| Enzyme 35 GenAtlas ID |
SLC5A4  |
| Enzyme 35 HGNC ID |
HGNC:11039  |
| Enzyme 35 Chromosome Location |
2 |
| Enzyme 35 Locus |
22q12.2-q12.3 |
| Enzyme 35 SNPs |
SNPJam Report  |
| Enzyme 35 General References |
- Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP, et al.: The DNA sequence of human chromosome 22. Nature. 1999 Dec 2;402(6761):489-95. [PubMed
]
|
| Enzyme 35 Metabolite References |
Not Available |
|
Enzyme 36
[top]
|
| Enzyme 36 ID |
8046 |
| Enzyme 36 Name |
Sodium-dependent dopamine transporter |
| Enzyme 36 Synonyms |
- DA transporter
- DAT
- Solute carrier family 6 member 3
|
| Enzyme 36 Gene Name |
SLC6A3 |
| Enzyme 36 Protein Sequence |
>Sodium-dependent dopamine transporter
MSKSKCSVGLMSSVVAPAKEPNAVGPKEVELILVKEQNGVQLTSSTLTNPRQSPVEAQDR
ETWGKKIDFLLSVIGFAVDLANVWRFPYLCYKNGGGAFLVPYLLFMVIAGMPLFYMELAL
GQFNREGAAGVWKICPILKGVGFTVILISLYVGFFYNVIIAWALHYLFSSFTTELPWIHC
NNSWNSPNCSDAHPGDSSGDSSGLNDTFGTTPAAEYFERGVLHLHQSHGIDDLGPPRWQL
TACLVLVIVLLYFSLWKGVKTSGKVVWITATMPYVVLTALLLRGVTLPGAIDGIRAYLSV
DFYRLCEASVWIDAATQVCFSLGVGFGVLIAFSSYNKFTNNCYRDAIVTTSINSLTSFSS
GFVVFSFLGYMAQKHSVPIGDVAKDGPGLIFIIYPEAIATLPLSSAWAVVFFIMLLTLGI
DSAMGGMESVITGLIDEFQLLHRHRELFTLFIVLATFLLSLFCVTNGGIYVFTLLDHFAA
GTSILFGVLIEAIGVAWFYGVGQFSDDIQQMTGQRPSLYWRLCWKLVSPCFLLFVVVVSI
VTFRPPHYGAYIFPDWANALGWVIATSSMAMVPIYAAYKFCSLPGSFREKLAYAIAPEKD
RELVDRGEVRQFTLRHWLKV
|
| Enzyme 36 Number of Residues |
620 |
| Enzyme 36 Molecular Weight |
68494.3 |
| Enzyme 36 Theoretical pI |
6.92 |
| Enzyme 36 GO Classification |
| Function |
- dopamine:sodium symporter activity
- neurotransmitter transporter activity
- neurotransmitter:sodium symporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- neurotransmitter transport
- transport
|
| Component |
- cell part
- integral to membrane
- integral to plasma membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 36 General Function |
Involved in neurotransmitter:sodium symporter activity |
| Enzyme 36 Specific Function |
Amine transporter. Terminates the action of dopamine by its high affinity sodium-dependent reuptake into presynaptic terminals |
| Enzyme 36 Pathways |
Not Available |
| Enzyme 36 Reactions |
Not Available |
| Enzyme 36 Pfam Domain Function |
|
| Enzyme 36 Signals |
|
| Enzyme 36 Transmembrane Regions |
- 69-89
96-116
140-160
238-256
265-282
318-335
347-368
401-420
447-465
481-501
522-541
560-578
|
| Enzyme 36 Essentiality |
Not Available |
| Enzyme 36 GenBank ID Protein |
181656  |
| Enzyme 36 UniProtKB/Swiss-Prot ID |
Q01959  |
| Enzyme 36 UniProtKB/Swiss-Prot Entry Name |
SC6A3_HUMAN  |
| Enzyme 36 PDB ID |
Not Available |
| Enzyme 36 Cellular Location |
Not Available |
| Enzyme 36 Gene Sequence |
>1863 bp
ATGAGTAAGAGCAAATGCTCCGTGGGACTCATGTCTTCCGTGGTGGCCCCGGCTAAGGAG
CCCAATGCCGTGGGCCCGAAGGAGGTGGAGCTCATCCTTGTCAAGGAGCAGAACGGAGTG
CAGCTCACCAGCTCCACCCTCACCAACCCGCGGCAGAGCCCCGTGGAGGCCCAGGATCGG
GAGACCTGGGGCAAGAAGATCGACTTTCTCCTGTCCGTCATTGGCTTTGCTGTGGACCTG
GCCAACGTCTGGCGGTTCCCCTACCTGTGCTACAAAAATGGTGGCGGTGCCTTCCTGGTC
CCCTACCTGCTCTTCATGGTCATTGCTGGGATGCCACTTTTCTACATGGAGCTGGCCCTC
GGCCAGTTCAACAGGGAAGGGGCCGCTGGTGTCTGGAAGATCTGCCCCATACTGAAAGGT
GTGGGCTTCACGGTCATCCTCATCTCACTGTATGTCGGCTTCTTCTACAACGTCATCATC
GCCTGGGCGCTGCACTATCTCTTCTCCTCCTTCACCACGGAGCTCCCCTGGATCCACTGC
AACAACTCCTGGAACAGCCCCAACTGCTCGGATGCCCATCCTGGTGACTCCAGTGGAGAC
AGCTCGGGCCTCAACGACACTTTTGGGACCACACCTGCTGCCGAGTACTTTGAACGTGGC
GTGCTGCACCTCCACCAGAGCCATGGCATCGACGACCTGGGGCCTCCGCGGTGGCAGCTC
ACAGCCTGCCTGGTGCTGGTCATCGTGCTGCTCTACTTCAGCCTCTGGAAGGGCGTGAAG
ACCTCAGGGAAGGTGGTATGGATCACAGCCACCATGCCATACGTGGTCCTCACTGCCCTG
CTCCTGCGTGGGGTCACCCTCCCTGGAGCCATAGACGGCATCAGAGCATACCTGAGCGTT
GACTTCTACCGGCTCTGCGAGGCGTCTGTTTGGATTGACGCGGCCACCCAGGTGTGCTTC
TCCCTGGGCGTGGGGTTCGGGGTGCTGATCGCCTTCTCCAGCTACAACAAGTTCACCAAC
AACTGCTACAGGGACGCGATTGTCACCACCTCCATCAACTCCCTGACGAGCTTCTCCTCC
GGCTTCGTCGTCTTCTCCTTCCTGGGGTACATGGCACAGAAGCACAGTGTGCCCATCGGG
GACGTGGCCAAGGACGGGCCAGGGCTGATCTTCATCATCTACCCGGAAGCCATCGCCACG
CTCCCTCTGTCCTCAGCCTGGGCCGTGGTCTTCTTCATCATGCTGCTCACCCTGGGTATC
GACAGCGCCATGGGTGGTATGGAGTCAGTGATCACCGGGCTCATCGATGAGTTCCAGCTG
CTGCACAGACACCGTGAGCTCTTCACGCTCTTCATCGTCCTGGCGACCTTCCTCCTGTCC
CTGTTCTGCGTCACCAACGGTGGCATCTACGTCTTCACGCTCCTGGACCATTTTGCAGCC
GGCACGTCCATCCTCTTTGGAGTGCTCATCGAAGCCATCGGAGTGGCCTGGTTCTATGGT
GTTGGGCAGTTCAGCGACGACATCCAGCAGATGACCGGGCAGCGGCCCAGCCTGTACTGG
CGGCTGTGCTGGAAGCTGGTCAGCCCCTGCTTTCTCCTGTTCGTGGTCGTGGTCAGCATT
GTGACCTTCAGACCCCCCCACTACGGAGCCTACATCTTCCCCGACTGGGCCAACGCGCTG
GGCTGGGTCATCGCCACATCCTCCATGGCCATGGTGCCCATCTATGCGGCCTACAAGTTC
TGCAGCCTGCCTGGGTCCTTTCGAGAGAAACTGGCCTACGCCATTGCACCCGAGAAGGAC
CGTGAGCTGGTGGACAGAGGGGAGGTGCGCCAGTTCACGCTCCGCCACTGGCTCAAGGTG
TAG
|
| Enzyme 36 GenBank Gene ID |
M95167  |
| Enzyme 36 GeneCard ID |
SLC6A3  |
| Enzyme 36 GenAtlas ID |
SLC6A3  |
| Enzyme 36 HGNC ID |
HGNC:11049  |
| Enzyme 36 Chromosome Location |
5 |
| Enzyme 36 Locus |
5p15.3 |
| Enzyme 36 SNPs |
SNPJam Report  |
| Enzyme 36 General References |
- Vandenbergh DJ, Persico AM, Uhl GR: A human dopamine transporter cDNA predicts reduced glycosylation, displays a novel repetitive element and provides racially-dimorphic TaqI RFLPs. Brain Res Mol Brain Res. 1992 Sep;15(1-2):161-6. [PubMed
]
- Giros B, el Mestikawy S, Godinot N, Zheng K, Han H, Yang-Feng T, Caron MG: Cloning, pharmacological characterization, and chromosome assignment of the human dopamine transporter. Mol Pharmacol. 1992 Sep;42(3):383-90. [PubMed
]
- Pristupa ZB, Wilson JM, Hoffman BJ, Kish SJ, Niznik HB: Pharmacological heterogeneity of the cloned and native human dopamine transporter: disassociation of [3H]WIN 35,428 and [3H]GBR 12,935 binding. Mol Pharmacol. 1994 Jan;45(1):125-35. [PubMed
]
- Kawarai T, Kawakami H, Yamamura Y, Nakamura S: Structure and organization of the gene encoding human dopamine transporter. Gene. 1997 Aug 11;195(1):11-8. [PubMed
]
- Vandenbergh DJ, Thompson MD, Cook EH, Bendahhou E, Nguyen T, Krasowski MD, Zarrabian D, Comings D, Sellers EM, Tyndale RF, George SR, O'Dowd BF, Uhl GR: Human dopamine transporter gene: coding region conservation among normal, Tourette's disorder, alcohol dependence and attention-deficit hyperactivity disorder populations. Mol Psychiatry. 2000 May;5(3):283-92. [PubMed
]
- Greenwood TA, Alexander M, Keck PE, McElroy S, Sadovnick AD, Remick RA, Kelsoe JR: Evidence for linkage disequilibrium between the dopamine transporter and bipolar disorder. Am J Med Genet. 2001 Mar 8;105(2):145-51. [PubMed
]
- Donovan DM, Vandenbergh DJ, Perry MP, Bird GS, Ingersoll R, Nanthakumar E, Uhl GR: Human and mouse dopamine transporter genes: conservation of 5'-flanking sequence elements and gene structures. Brain Res Mol Brain Res. 1995 Jun;30(2):327-35. [PubMed
]
- Bannon MJ, Poosch MS, Xia Y, Goebel DJ, Cassin B, Kapatos G: Dopamine transporter mRNA content in human substantia nigra decreases precipitously with age. Proc Natl Acad Sci U S A. 1992 Aug 1;89(15):7095-9. [PubMed
]
- Torres GE, Yao WD, Mohn AR, Quan H, Kim KM, Levey AI, Staudinger J, Caron MG: Functional interaction between monoamine plasma membrane transporters and the synaptic PDZ domain-containing protein PICK1. Neuron. 2001 Apr;30(1):121-34. [PubMed
]
- Carneiro AM, Ingram SL, Beaulieu JM, Sweeney A, Amara SG, Thomas SM, Caron MG, Torres GE: The multiple LIM domain-containing adaptor protein Hic-5 synaptically colocalizes and interacts with the dopamine transporter. J Neurosci. 2002 Aug 15;22(16):7045-54. [PubMed
]
- Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES: Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet. 1999 Jul;22(3):231-8. [PubMed
]
- Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE: The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314(5797):268-74. Epub 2006 Sep 7. [PubMed
]
|
| Enzyme 36 Metabolite References |
Not Available |
|
Enzyme 37
[top]
|
| Enzyme 37 ID |
8049 |
| Enzyme 37 Name |
Sodium/bile acid cotransporter |
| Enzyme 37 Synonyms |
- Cell growth-inhibiting gene 29 protein
- Na(+)/bile acid cotransporter
- Na(+)/taurocholate transport protein
- Sodium/taurocholate cotransporting polypeptide
- Solute carrier family 10 member 1
|
| Enzyme 37 Gene Name |
SLC10A1 |
| Enzyme 37 Protein Sequence |
>Sodium/bile acid cotransporter
MEAHNASAPFNFTLPPNFGKRPTDLALSVILVFMLFFIMLSLGCTMEFSKIKAHLWKPKG
LAIALVAQYGIMPLTAFVLGKVFRLKNIEALAILVCGCSPGGNLSNVFSLAMKGDMNLSI
VMTTCSTFCALGMMPLLLYIYSRGIYDGDLKDKVPYKGIVISLVLVLIPCTIGIVLKSKR
PQYMRYVIKGGMIIILLCSVAVTVLSAINVGKSIMFAMTPLLIATSSLMPFIGFLLGYVL
SALFCLNGRCRRTVSMETGCQNVQLCSTILNVAFPPEVIGPLFFFPLLYMIFQLGEGLLL
IAIFWCYEKFKTPKDKTKMIYTAATTEETIPGALGNGTYKGEDCSPCTA
|
| Enzyme 37 Number of Residues |
349 |
| Enzyme 37 Molecular Weight |
38118.6 |
| Enzyme 37 Theoretical pI |
8.94 |
| Enzyme 37 GO Classification |
| Function |
- bile acid:sodium symporter activity
- organic acid transmembrane transporter activity
- organic acid:sodium symporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- anion transport
- cation transport
- establishment of localization
- ion transport
- monovalent inorganic cation transport
- organic anion transport
- sodium ion transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 37 General Function |
Involved in bile acid:sodium symporter activity |
| Enzyme 37 Specific Function |
The hepatic sodium/bile acid uptake system exhibits broad substrate specificity and transports various non-bile acid organic compounds as well. It is strictly dependent on the extracellular presence of sodium |
| Enzyme 37 Pathways |
Not Available |
| Enzyme 37 Reactions |
Not Available |
| Enzyme 37 Pfam Domain Function |
|
| Enzyme 37 Signals |
|
| Enzyme 37 Transmembrane Regions |
- 25-45
60-80
91-111
120-140
156-176
191-211
220-240
283-303
|
| Enzyme 37 Essentiality |
Not Available |
| Enzyme 37 GenBank ID Protein |
Not Available |
| Enzyme 37 UniProtKB/Swiss-Prot ID |
Q14973  |
| Enzyme 37 UniProtKB/Swiss-Prot Entry Name |
NTCP_HUMAN  |
| Enzyme 37 PDB ID |
Not Available |
| Enzyme 37 Cellular Location |
Not Available |
| Enzyme 37 Gene Sequence |
>1050 bp
ATGGAGGCCCACAACGCGTCTGCCCCATTCAACTTCACCCTGCCACCCAACTTTGGCAAG
CGCCCCACAGACCTGGCACTGAGCGTCATCCTGGTGTTCATGTTGTTCTTCATCATGCTC
TCGCTGGGCTGCACCATGGAGTTCAGCAAGATCAAGGCTCACTTATGGAAGCCTAAAGGG
CTGGCCATCGCCCTGGTGGCACAGTATGGCATCATGCCCCTCACGGCCTTTGTGCTGGGC
AAGGTCTTCCGGCTGAAGAACATTGAGGCACTGGCCATCTTGGTCTGTGGCTGCTCACCT
GGAGGGAACCTGTCCAATGTCTTCAGTCTGGCCATGAAGGGGGACATGAACCTCAGCATT
GTGATGACCACCTGCTCCACCTTCTGTGCCCTTGGCATGATGCCTCTCCTCCTGTACATC
TACTCCAGGGGGATCTATGATGGGGACCTGAAGGACAAGGTGCCCTATAAAGGCATCGTG
ATATCACTGGTCCTGGTTCTCATTCCTTGCACCATAGGGATCGTCCTCAAATCCAAACGG
CCACAATACATGCGCTATGTCATCAAGGGAGGGATGATCATCATTCTCTTGTGCAGTGTG
GCCGTCACAGTTCTCTCTGCCATCAATGTGGGGAAGAGCATCATGTTTGCCATGACACCA
CTCTTGATTGCCACCTCCTCCCTGATGCCTTTTATTGGCTTTCTGCTGGGTTATGTTCTC
TCTGCTCTCTTCTGCCTCAATGGACGGTGCAGACGCACTGTCAGCATGGAGACTGGATGC
CAAAATGTCCAACTCTGTTCCACCATCCTCAATGTGGCCTTTCCACCTGAAGTCATTGGA
CCACTTTTCTTCTTTCCCCTCCTCTACATGATTTTCCAGCTTGGAGAAGGGCTTCTCCTC
ATTGCCATATTTTGGTGCTATGAGAAATTCAAGACTCCCAAGGATAAAACAAAAATGATC
TACACAGCTGCCACAACTGAAGAAACAATTCCAGGAGCTCTGGGAAATGGCACCTACAAA
GGGGAGGACTGCTCCCCTTGCACAGCCTAG
|
| Enzyme 37 GenBank Gene ID |
L21893  |
| Enzyme 37 GeneCard ID |
SLC10A1  |
| Enzyme 37 GenAtlas ID |
SLC10A1  |
| Enzyme 37 HGNC ID |
HGNC:10905  |
| Enzyme 37 Chromosome Location |
1 |
| Enzyme 37 Locus |
14q24.1 |
| Enzyme 37 SNPs |
SNPJam Report  |
| Enzyme 37 General References |
- Hagenbuch B, Meier PJ: Molecular cloning, chromosomal localization, and functional characterization of a human liver Na+/bile acid cotransporter. J Clin Invest. 1994 Mar;93(3):1326-31. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
|
| Enzyme 37 Metabolite References |
Not Available |
|
Enzyme 38
[top]
|
| Enzyme 38 ID |
8054 |
| Enzyme 38 Name |
Sodium/hydrogen exchanger 1 |
| Enzyme 38 Synonyms |
- APNH
- Na(+)/H(+) antiporter, amiloride-sensitive
- Na(+)/H(+) exchanger 1
- NHE-1
- Solute carrier family 9 member 1
|
| Enzyme 38 Gene Name |
SLC9A1 |
| Enzyme 38 Protein Sequence |
>Sodium/hydrogen exchanger 1
MVLRSGICGLSPHRIFPSLLVVVALVGLLPVLRSHGLQLSPTASTIRSSEPPRERSIGDV
TTAPPEVTPESRPVNHSVTDHGMKPRKAFPVLGIDYTHVRTPFEISLWILLACLMKIGFH
VIPTISSIVPESCLLIVVGLLVGGLIKGVGETPPFLQSDVFFLFLLPPIILDAGYFLPLR
QFTENLGTILIFAVVGTLWNAFFLGGLMYAVCLVGGEQINNIGLLDNLLFGSIISAVDPV
AVLAVFEEIHINELLHILVFGESLLNDAVTVVLYHLFEEFANYEHVGIVDIFLGFLSFFV
VALGGVLVGVVYGVIAAFTSRFTSHIRVIEPLFVFLYSYMAYLSAELFHLSGIMALIASG
VVMRPYVEANISHKSHTTIKYFLKMWSSVSETLIFIFLGVSTVAGSHHWNWTFVISTLLF
CLIARVLGVLGLTWFINKFRIVKLTPKDQFIIAYGGLRGAIAFSLGYLLDKKHFPMCDLF
LTAIITVIFFTVFVQGMTIRPLVDLLAVKKKQETKRSINEEIHTQFLDHLLTGIEDICGH
YGHHHWKDKLNRFNKKYVKKCLIAGERSKEPQLIAFYHKMEMKQAIELVESGGMGKIPSA
VSTVSMQNIHPKSLPSERILPALSKDKEEEIRKILRNNLQKTRQRLRSYNRHTLVADPYE
EAWNQMLLRRQKARQLEQKINNYLTVPAHKLDSPTMSRARIGSDPLAYEPKEDLPVITID
PASPQSPESVDLVNEELKGKVLGLSRDPAKVAEEDEDDDGGIMMRSKETSSPGTDDVFTP
APSDSPSSQRIQRCLSDPGPHPEPGEGEPFFPKGQ
|
| Enzyme 38 Number of Residues |
815 |
| Enzyme 38 Molecular Weight |
90762.1 |
| Enzyme 38 Theoretical pI |
7.22 |
| Enzyme 38 GO Classification |
| Function |
- cation transmembrane transporter activity
- hydrogen ion transmembrane transporter activity
- inorganic cation transmembrane transporter activity
- ion transmembrane transporter activity
- monovalent cation:hydrogen antiporter activity
- monovalent inorganic cation transmembrane transporter activity
- sodium:hydrogen antiporter activity
- solute:cation antiporter activity
- solute:hydrogen antiporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- biological regulation
- cation homeostasis
- cation transport
- chemical homeostasis
- establishment of localization
- homeostatic process
- ion homeostasis
- ion transport
- monovalent inorganic cation homeostasis
- monovalent inorganic cation transport
- regulation of biological quality
- regulation of pH
- sodium ion transport
- transmembrane transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane part
|
|
| Enzyme 38 General Function |
Involved in solute:hydrogen antiporter activity |
| Enzyme 38 Specific Function |
Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction |
| Enzyme 38 Pathways |
Not Available |
| Enzyme 38 Reactions |
Not Available |
| Enzyme 38 Pfam Domain Function |
|
| Enzyme 38 Signals |
|
| Enzyme 38 Transmembrane Regions |
- 13-33
106-127
130-149
155-174
192-211
228-247
257-276
295-315
339-358
411-430
449-470
480-499
|
| Enzyme 38 Essentiality |
Not Available |
| Enzyme 38 GenBank ID Protein |
Not Available |
| Enzyme 38 UniProtKB/Swiss-Prot ID |
P19634  |
| Enzyme 38 UniProtKB/Swiss-Prot Entry Name |
SL9A1_HUMAN  |
| Enzyme 38 PDB ID |
1Y4E  |
| Enzyme 38 PDB File |
Show |
| Enzyme 38 3D Structure |
|
| Enzyme 38 Cellular Location |
Not Available |
| Enzyme 38 Gene Sequence |
>2448 bp
ATGGTTCTGCGGTCTGGCATCTGTGGCCTCTCTCCACATCGGATCTTCCCTTCCTTACTC
GTGGTGGTTGCTTTGGTGGGGCTGCTGCCTGTTCTCAGGAGCCATGGCCTCCAGCTCAGC
CCAACTGCCAGCACCATTCGAAGCTCAGAGCCACCACGAGAACGCTCGATTGGGGATGTC
ACCACCGCTCCACCGGAGGTCACCCCAGAGAGCCGCCCTGTTAATCATTCCGTCACTGAT
CATGGCATGAAGCCGCGCAAGGCCTTTCCAGTCCTGGGCATCGACTACACACACGTGCGC
ACCCCCTTCGAGATCTCCCTCTGGATCCTTCTGGCCTGCCTCATGAAGATAGGTTTCCAT
GTGATCCCCACTATCTCAAGCATCGTCCCGGAGAGCTGCCTGCTGATCGTGGTGGGGCTG
CTGGTGGGGGGCCTGATCAAGGGTGTAGGCGAGACACCCCCCTTCCTGCAGTCCGACGTC
TTCTTCCTCTTCCTGCTGCCGCCCATCATCCTGGATGCGGGCTACTTCCTGCCACTGCGG
CAGTTCACAGAAAACCTGGGCACCATCCTGATCTTTGCCGTGGTGGGCACGCTGTGGAAC
GCCTTCTTCCTGGGCGGCCTCATGTACGCCGTGTGCCTGGTGGGCGGTGAGCAGATCAAC
AACATCGGCCTCCTGGACAACCTGCTCTTCGGCAGCATCATCTCGGCCGTGGACCCCGTG
GCGGTTCTGGCTGTCTTTGAGGAAATTCACATCAATGAGCTGCTGCACATCCTTGTTTTT
GGGGAGTCCTTGCTCAATGACGCCGTCACTGTGGTCCTGTATCACCTCTTTGAGGAGTTT
GCCAACTACGAACACGTGGGCATCGTGGACATCTTCCTCGGCTTCCTGAGCTTCTTCGTG
GTGGCCCTGGGCGGGGTGCTTGTGGGCGTGGTCTACGGGGTCATCGCAGCCTTCACCTCC
CGATTTACCTCCCACATCCGGGTCATCGAGCCGCTCTTCGTCTTCCTCTACAGCTACATG
GCCTACTTGTCAGCCGAGCTCTTCCACCTGTCAGGCATCATGGCGCTCATAGCCTCAGGA
GTGGTGATGCGCCCCTATGTGGAGGCCAACATCTCCCACAAGTCCCACACCACCATCAAA
TACTTCCTGAAGATGTGGAGCAGCGTCAGCGAGACCCTCATCTTCATCTTCCTCGGCGTC
TCCACGGTGGCCGGCTCCCACCACTGGAACTGGACCTTCGTCATCAGCACCCTGCTCTTC
TGCCTCATCGCCCGCGTGCTGGGGGTGCTGGGCCTGACCTGGTTCATCAACAAGTTCCGT
ATCGTGAAGCTGACCCCCAAGGACCAGTTCATCATCGCCTATGGGGGCCTGCGAGGGGCC
ATCGCCTTCTCTCTGGGCTACCTCCTGGACAAGAAGCACTTCCCCATGTGTGACCTGTTC
CTCACTGCCATCATCACTGTCATCTTCTTCACCGTCTTTGTGCAGGGCATGACCATTCGG
CCCCTGGTAGACCTGTTGGCTGTGAAGAAAAAGCAAGAGACGAAGCGCTCCATCAACGAA
GAGATCCACACACAGTTCCTGGACCACCTTCTGACAGGCATCGAAGACATCTGTGGCCAC
TACGGTCACCACCACTGGAAGGACAAGCTCAACCGGTTTAATAAGAAATATGTGAAGAAG
TGTCTGATAGCTGGCGAGCGCTCCAAGGAGCCCCAGCTCATTGCCTTCTACCACAAGATG
GAGATGAAGCAGGCCATCGAGCTGGTGGAGAGCGGGGGCATGGGCAAGATCCCCTCTGCC
GTCTCCACCGTCTCCATGCAGAACATCCACCCCAAGTCCCTGCCTTCCGAGCGCATCCTG
CCAGCACTGTCCAAGGACAAGGAGGAGGAGATCCGCAAAATCCTGAGGAACAACTTGCAG
AAGACCAGGCAGCGGCTGCGGTCCTACAACAGACACACGCTGGTGGCAGACCCCTACGAG
GAAGCCTGGAACCAGATGCTGCTCCGGAGGCAGAAGGCCCGGCAGCTGGAGCAGAAGATC
AACAACTACCTGACGGTGCCAGCCCACAAGCTGGACTCACCCACCATGTCTCGGGCCCGC
ATCGGCTCAGACCCACTGGCCTATGAGCCGAAGGAGGACCTGCCTGTCATCACCATCGAC
CCGGCTTCCCCGCAGTCACCCGAGTCTGTGGACCTGGTGAATGAGGAGCTGAAGGGCAAA
GTCTTAGGGTTGAGCCGGGATCCTGCAAAGGTGGCTGAGGAGGACGAGGACGACGATGGG
GGCATCATGATGCGGAGCAAGGAGACTTCGTCCCCAGGAACCGACGATGTCTTCACCCCC
GCGCCCAGTGACAGCCCCAGCTCCCAGAGGATACAGCGCTGCCTCAGTGACCCAGGCCCA
CACCCTGAGCCTGGGGAGGGAGAACCGTTCTTCCCCAAGGGGCAGTAA
|
| Enzyme 38 GenBank Gene ID |
S68616  |
| Enzyme 38 GeneCard ID |
SLC9A1  |
| Enzyme 38 GenAtlas ID |
SLC9A1  |
| Enzyme 38 HGNC ID |
HGNC:11071  |
| Enzyme 38 Chromosome Location |
1 |
| Enzyme 38 Locus |
1p36.1-p35 |
| Enzyme 38 SNPs |
SNPJam Report  |
| Enzyme 38 General References |
- Sardet C, Franchi A, Pouyssegur J: Molecular cloning, primary structure, and expression of the human growth factor-activatable Na+/H+ antiporter. Cell. 1989 Jan 27;56(2):271-80. [PubMed
]
- Sardet C, Counillon L, Franchi A, Pouyssegur J: Growth factors induce phosphorylation of the Na+/H+ antiporter, glycoprotein of 110 kD. Science. 1990 Feb 9;247(4943):723-6. [PubMed
]
- Tse CM, Ma AI, Yang VW, Watson AJ, Levine S, Montrose MH, Potter J, Sardet C, Pouyssegur J, Donowitz M: Molecular cloning and expression of a cDNA encoding the rabbit ileal villus cell basolateral membrane Na+/H+ exchanger. EMBO J. 1991 Aug;10(8):1957-67. [PubMed
]
- Fliegel L, Dyck JR, Wang H, Fong C, Haworth RS: Cloning and analysis of the human myocardial Na+/H+ exchanger. Mol Cell Biochem. 1993 Aug 25;125(2):137-43. [PubMed
]
- Garden OA, Musk P, Worthington-White DA, Dewey MJ, Rich IN: Silent polymorphisms within the coding region of human sodium/hydrogen exchanger isoform-1 cDNA in peripheral blood mononuclear cells of leukemia patients: A comparison with healthy controls. Cancer Genet Cytogenet. 2000 Jul 1;120(1):37-43. [PubMed
]
- Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C, Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K, Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C, Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G, Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V, Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M, Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J, French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM, Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD, Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S, Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S, Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K, Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G, Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL, Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z, Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R, Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S, Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD, Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF, Pandian RD, Porter KM, Prigmore E: The DNA sequence and biological annotation of human chromosome 1. Nature. 2006 May 18;441(7091):315-21. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Counillon L, Pouyssegur J, Reithmeier RA: The Na+/H+ exchanger NHE-1 possesses N- and O-linked glycosylation restricted to the first N-terminal extracellular domain. Biochemistry. 1994 Aug 30;33(34):10463-9. [PubMed
]
- Shrode LD, Gan BS, D'Souza SJ, Orlowski J, Grinstein S: Topological analysis of NHE1, the ubiquitous Na+/H+ exchanger using chymotryptic cleavage. Am J Physiol. 1998 Aug;275(2 Pt 1):C431-9. [PubMed
]
- Wakabayashi S, Pang T, Su X, Shigekawa M: A novel topology model of the human Na(+)/H(+) exchanger isoform 1. J Biol Chem. 2000 Mar 17;275(11):7942-9. [PubMed
]
- Mailander J, Muller-Esterl W, Dedio J: Human homolog of mouse tescalcin associates with Na(+)/H(+) exchanger type-1. FEBS Lett. 2001 Nov 2;507(3):331-5. [PubMed
]
- Pang T, Su X, Wakabayashi S, Shigekawa M: Calcineurin homologous protein as an essential cofactor for Na+/H+ exchangers. J Biol Chem. 2001 May 18;276(20):17367-72. Epub 2001 Feb 28. [PubMed
]
- Pang T, Wakabayashi S, Shigekawa M: Expression of calcineurin B homologous protein 2 protects serum deprivation-induced cell death by serum-independent activation of Na+/H+ exchanger. J Biol Chem. 2002 Nov 15;277(46):43771-7. Epub 2002 Sep 10. [PubMed
]
- Li X, Liu Y, Kay CM, Muller-Esterl W, Fliegel L: The Na+/H+ exchanger cytoplasmic tail: structure, function, and interactions with tescalcin. Biochemistry. 2003 Jun 24;42(24):7448-56. [PubMed
]
- Slepkov ER, Chow S, Lemieux MJ, Fliegel L: Proline residues in transmembrane segment IV are critical for activity, expression and targeting of the Na+/H+ exchanger isoform 1. Biochem J. 2004 Apr 1;379(Pt 1):31-8. [PubMed
]
- Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. Science. 2007 May 25;316(5828):1160-6. [PubMed
]
- Zahedi RP, Lewandrowski U, Wiesner J, Wortelkamp S, Moebius J, Schutz C, Walter U, Gambaryan S, Sickmann A: Phosphoproteome of resting human platelets. J Proteome Res. 2008 Feb;7(2):526-34. Epub 2007 Dec 19. [PubMed
]
- Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. Epub 2008 Jul 31. [PubMed
]
- Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. Sci Signal. 2009 Aug 18;2(84):ra46. [PubMed
]
- Slepkov ER, Rainey JK, Li X, Liu Y, Cheng FJ, Lindhout DA, Sykes BD, Fliegel L: Structural and functional characterization of transmembrane segment IV of the NHE1 isoform of the Na+/H+ exchanger. J Biol Chem. 2005 May 6;280(18):17863-72. Epub 2005 Jan 26. [PubMed
]
- Ammar YB, Takeda S, Hisamitsu T, Mori H, Wakabayashi S: Crystal structure of CHP2 complexed with NHE1-cytosolic region and an implication for pH regulation. EMBO J. 2006 Jun 7;25(11):2315-25. Epub 2006 May 18. [PubMed
]
- Mishima M, Wakabayashi S, Kojima C: Solution structure of the cytoplasmic region of Na+/H+ exchanger 1 complexed with essential cofactor calcineurin B homologous protein 1. J Biol Chem. 2007 Jan 26;282(4):2741-51. Epub 2006 Oct 18. [PubMed
]
|
| Enzyme 38 Metabolite References |
Not Available |
|
Enzyme 39
[top]
|
| Enzyme 39 ID |
8117 |
| Enzyme 39 Name |
Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 |
| Enzyme 39 Synonyms |
- Brain cyclic nucleotide-gated channel 2
- BCNG-2
|
| Enzyme 39 Gene Name |
HCN2 |
| Enzyme 39 Protein Sequence |
>Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2
MDARGGGGRPGESPGATPAPGPPPPPPPAPPQQQPPPPPPPAPPPGPGPAPPQHPPRAEA
LPPEAADEGGPRGRLRSRDSSCGRPGTPGAASTAKGSPNGECGRGEPQCSPAGPEGPARG
PKVSFSCRGAASGPAPGPGPAEEAGSEEAGPAGEPRGSQASFMQRQFGALLQPGVNKFSL
RMFGSQKAVEREQERVKSAGAWIIHPYSDFRFYWDFTMLLFMVGNLIIIPVGITFFKDET
TAPWIVFNVVSDTFFLMDLVLNFRTGIVIEDNTEIILDPEKIKKKYLRTWFVVDFVSSIP
VDYIFLIVEKGIDSEVYKTARALRIVRFTKILSLLRLLRLSRLIRYIHQWEEIFHMTYDL
ASAVMRICNLISMMLLLCHWDGCLQFLVPMLQDFPRNCWVSINGMVNHSWSELYSFALFK
AMSHMLCIGYGRQAPESMTDIWLTMLSMIVGATCYAMFIGHATALIQSLDSSRRQYQEKY
KQVEQYMSFHKLPADFRQKIHDYYEHRYQGKMFDEDSILGELNGPLREEIVNFNCRKLVA
SMPLFANADPNFVTAMLTKLKFEVFQPGDYIIREGTIGKKMYFIQHGVVSVLTKGNKEMK
LSDGSYFGEICLLTRGRRTASVRADTYCRLYSLSVDNFNEVLEEYPMMRRAFETVAIDRL
DRIGKKNSILLHKVQHDLNSGVFNNQENAIIQEIVKYDREMVQQAELGQRVGLFPPPPPP
PQVTSAIATLQQAAAMSFCPQVARPLVGPLALGSPRLVRRPPPGPAPAAASPGPPPPASP
PGAPASPRAPRTSPYGGLPAAPLAGPALPARRLSRASRPLSASQPSLPHGAPGPAASTRP
ASSSTPRLGPTPAARAAAPSPDRRDSASPGAAGGLDPQDSARSRLSSNL
|
| Enzyme 39 Number of Residues |
889 |
| Enzyme 39 Molecular Weight |
96949.4 |
| Enzyme 39 Theoretical pI |
9.21 |
| Enzyme 39 GO Classification |
| Function |
- cation channel activity
- ion channel activity
- ion transmembrane transporter activity
- potassium channel activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
- voltage-gated potassium channel activity
|
| Process |
- cation transport
- establishment of localization
- ion transport
- monovalent inorganic cation transport
- potassium ion transport
- transmembrane transport
- transport
|
| Component |
|
|
| Enzyme 39 General Function |
Involved in ion channel activity |
| Enzyme 39 Specific Function |
Hyperpolarization-activated ion channel exhibiting weak selectivity for potassium over sodium ions. Contributes to the native pacemaker currents in heart (If) and in neurons (Ih). Produces a large instantaneous current. Activated by cAMP. Modulated by intracellular chloride ions and pH; acidic pH shifts the activation to more negative voltages |
| Enzyme 39 Pathways |
Not Available |
| Enzyme 39 Reactions |
Not Available |
| Enzyme 39 Pfam Domain Function |
|
| Enzyme 39 Signals |
|
| Enzyme 39 Transmembrane Regions |
- 216-236
241-261
289-309
318-338
370-390
441-461
|
| Enzyme 39 Essentiality |
Not Available |
| Enzyme 39 GenBank ID Protein |
4996894  |
| Enzyme 39 UniProtKB/Swiss-Prot ID |
Q9UL51  |
| Enzyme 39 UniProtKB/Swiss-Prot Entry Name |
HCN2_HUMAN  |
| Enzyme 39 PDB ID |
1Q3E  |
| Enzyme 39 PDB File |
Show |
| Enzyme 39 3D Structure |
|
| Enzyme 39 Cellular Location |
Not Available |
| Enzyme 39 Gene Sequence |
>2670 bp
ATGGACGCGCGCGGGGGCGGCGGGCGGCCCGGGGAGAGCCCGGGCGCGAGCCCCACGACC
GGGCCGCCGCCGCCGCCGCCCCCGCGCCCCCCCAAACAGCAGCCGCCGCCGCCGCCGCCG
CCCGCGCCCCCCCCGGGCCCCGGGCCCGCGCCCCCCCAGCACCCGCCCCGGGCCGAGGCG
TTGCCCCCGGAGGCGGCGGATGAGGGCGGCCCGCGGGGCCGGCTCCGCAGCCGCGACAGC
TCGTGCGGCCGCCCCGGCACCCCGGGCGCGGCGAGCACGGCCAAGGGCAGCCCGAACGGC
GAGTGCGGGCGCGGCGAGCCGCAGTGCAGCCCCGCGGGGCCCGAGGGCCCGGCGCGGGGG
CCCAAGGTGTCGTTCTCGTGCCGCGGGGCGGCCTCGGGGCCCGCGCCGGGGCCGGGGCCG
GCGGAGGAGGCGGGCAGCGAGGAGGCGGGCCCGGCGGGGGAGCCGCGCGGCAGCCAGGCC
AGCTTCATGCAGCGCCAGTTCGGCGCGCTCCTGCAGCCGGGCGTCAACAAGTTCTCGCTG
CGGATGTTCGGCAGCCAGAAGGCCGTGGAGCGCGAGCAGGAGCGCGTCAAGTCGGCGGGG
GCCTGGATCATCCACCCGTACAGCGACTTCAGGTTCTACTGGGACTTCACCATGCTGCTG
TTCATGGTGGGAAACCTCATCATCATCCCAGTGGGCATCACCTTCTTCAAGGATGAGACC
ACTGCCCCGTGGATCGTGTTCAACGTGGTCTCGGACACCTTCTTCCTCATGGACCTGGTG
TTGAACTTCCGCACCGGCATTGTGATCGAGGACAACACGGAGATCATCCTGGACCCCGAG
AAGATCAAGAAGAAGTATCTGCGCACGTGGTTCGTGGTGGACTTCGTGTCCTCCATCCCC
GTGGACTACATCTTCCTTATCGTGGAGAAGGGCATTGACTCCGAGGTCTACAAGACGGCA
CGCGCCCTGCGCATCGTGCGCTTCACCAAGATCCTCAGCCTCCTGCGGCTGCTGCGCCTC
TCACGCCTGATCCGCTACATCCATCAGTGGGAGGAGATCTTCCACATGACCTATGACCTG
GCCAGCGCGGTGATGAGGATCTGCAATCTCATCAGCATGATGCTGCTGCTCTGCCACTGG
GACGGCTGCCTGCAGTTCCTGGTGCCTATGCTGCAGGACTTCCCGCGCAACTGCTGGGTG
TCCATCAATGGCATGGTGAACCACTCGTGGAGTGAACTGTACTCCTTCGCACTCTTCAAG
GCCATGAGCCACATGCTGTGCATCGGGTACGGCCGGCAGGCGCCCGAGAGCATGACGGAC
ATCTGGCTGACCATGCTCAGCATGATTGTGGGTGCCACCTGCTACGCCATGTTCATCGGC
CACGCCACTGCCCTCATCCAGTCGCTGGACTCCTCGCGGCGCCAGTACCAGGAGAAGTAC
AAGCAGGTGGAGCAGTACATGTCCTTCCACAAGCTGCCAGCTGACTTCCGCCAGAAGATC
CACGACTACTATGAGCACCGTTACCAGGGCAAGATGTTTGACGAGGACAGCATCCTGGGC
GAGCTCAACGGGCCCCTGCGGGAGGAGATCGTCAACTTCAACTGCCGGAAGCTGGTGGCC
TCCATGCCGCTGTTCGCCAACGCCGACCCCAACTTCGTCACGGCCATGCTGACCAAGCTC
AAGTTCGAGGTCTTCCAGCCGGGTGACTACATCATCCGCGAAGGCACCATCGGGAAGAAG
ATGTACTTCATCCAGCACGGCGTGGTCAGCGTGCTCACTAAGGGCAACAAGGAGATGAAG
CTGTCCGATGGCTCCTACTTCGGGGAGATCTGCCTGCTCACCCGGGGCCGCCGCACGGCG
AGCGTGCGGGCTGACACCTACTGCCGCCTCTATTCGCTGAGCGTGGACAACTTCAACGAG
GTGCTGGAGGAGTACCCCATGATGCGGCGCGCCTTCGAGACGGTGGCCATCGACCGCCTG
GACCGCATCGGCAAGAAGAATTCCATCCTCCTGCACAAGGTGCAGCATGACCTCAACTCG
GGCGTATTCAACAACCAGGAGAACGCCATCATCCAGGAGATCGTCAAGTACGACCGCGAG
ATGGTGCAGCAGGCCGAGCTGGGTCAGCGCGTGGGCCTCTTCCCGCCGCCGCCGCCGCCG
CCGCAGGTCACCTCGGCCATCGCCACGCTGCAGCAGGCGGCGGCCATGAGCTTCTGCCCG
CAGGTGGCGCGGCCGCTCGTGGGGCCGCTGGCGCTCGGCTCGCCGCGCCTCGTGCGCCGC
CCGCCCCCGGGGCCCGCACCTGCCGCCGCCTCACCCGGGCCCCCGCCCCCCGCCAGCCCC
CCGGGCGCGCCCGCCAGCCCCCGGGCACCGCGGACCTCGCCCTACGGCGGCCTGCCCGCC
GCCCCCCTTGCTGGGCCCGCCCTGCCCGCGCGCCGCCTGAGCCGCGCGTCGCGCCCACTG
TCCGCCTCGCAGCCCTCGCTGCCTCACGGCGCCCCCGGCCCCGCGGCCTCCACACGCCCG
GCCAGCAGCTCCACACCGCGCTTGGGGCCCACGCCCGCTGCCCGGGCCGCCGCGCCCAGC
CCGGACCGCAGGGACTCGGCCTCACCCGGCGCCGCCGGCGGCCTGGACCCCCAGGACTCC
GCGCGCTCGCGCCTCTCGTCCAACTTGTGA
|
| Enzyme 39 GenBank Gene ID |
AF065164  |
| Enzyme 39 GeneCard ID |
HCN2  |
| Enzyme 39 GenAtlas ID |
HCN2  |
| Enzyme 39 HGNC ID |
HGNC:4846  |
| Enzyme 39 Chromosome Location |
1 |
| Enzyme 39 Locus |
19p13.3 |
| Enzyme 39 SNPs |
SNPJam Report  |
| Enzyme 39 General References |
- Vaccari T, Moroni A, Rocchi M, Gorza L, Bianchi ME, Beltrame M, DiFrancesco D: The human gene coding for HCN2, a pacemaker channel of the heart. Biochim Biophys Acta. 1999 Sep 3;1446(3):419-25. [PubMed
]
- Ludwig A, Zong X, Stieber J, Hullin R, Hofmann F, Biel M: Two pacemaker channels from human heart with profoundly different activation kinetics. EMBO J. 1999 May 4;18(9):2323-9. [PubMed
]
- Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J, Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel S, Carrano A, Caoile C, Chan YM, Christensen M, Cleland CA, Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M, Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V, Leem SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S, Pollard M, Popkie AP, Predki P, Quan G, Ramirez L, Rash S, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D, Slezak T, Solovyev V, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS, DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM, Lucas SM: The DNA sequence and biology of human chromosome 19. Nature. 2004 Apr 1;428(6982):529-35. [PubMed
]
- Santoro B, Liu DT, Yao H, Bartsch D, Kandel ER, Siegelbaum SA, Tibbs GR: Identification of a gene encoding a hyperpolarization-activated pacemaker channel of brain. Cell. 1998 May 29;93(5):717-29. [PubMed
]
|
| Enzyme 39 Metabolite References |
Not Available |
|
Enzyme 40
[top]
|
| Enzyme 40 ID |
8120 |
| Enzyme 40 Name |
Sodium-dependent multivitamin transporter |
| Enzyme 40 Synonyms |
- Na(+)-dependent multivitamin transporter
- Solute carrier family 5 member 6
|
| Enzyme 40 Gene Name |
SLC5A6 |
| Enzyme 40 Protein Sequence |
>Sodium-dependent multivitamin transporter
MSVGVSTSAPLSPTSGTSVGMSTFSIMDYVVFVLLLVLSLAIGLYHACRGWGRHTVGELL
MADRKMGCLPVALSLLATFQSAVAILGVPSEIYRFGTQYWFLGCCYFLGLLIPAHIFIPV
FYRLHLTSAYEYLELRFNKTVRVCGTVTFIFQMVIYMGVVLYAPSLALNAVTGFDLWLSV
LALGIVCTVYTALGGLKAVIWTDVFQTLVMFLGQLAVIIVGSAKVGGLGRVWAVASQHGR
ISGFELDPDPFVRHTFWTLAFGGVFMMLSLYGVNQAQVQRYLSSRTEKAAVLSCYAVFPF
QQVSLCVGCLIGLVMFAYYQEYPMSIQQAQAAPDQFVLYFVMDLLKGLPGLPGLFIACLF
SGSLSTISSAFNSLATVTMEDLIRPWFPEFSEARAIMLSRGLAFGYGLLCLGMAYISSQM
GPVLQAAISIFGMVGGPLLGLFCLGMFFPCANPPGAVVGLLAGLVMAFWIGIGSIVTSMG
SSMPPSPSNGSSFSLPTNLTVATVTTLMPLTTFSKPTGLQRFYSLSYLWYSAHNSTTVIV
VGLIVSLLTGRMRGRSLNPATIYPVLPKLLSLLPLSCQKRLHCRSYGQDHLDTGLFPEKP
RNGVLGDSRDKEAMALDGTAYQGSSSTCILQETSL
|
| Enzyme 40 Number of Residues |
635 |
| Enzyme 40 Molecular Weight |
68641.3 |
| Enzyme 40 Theoretical pI |
8.32 |
| Enzyme 40 GO Classification |
| Function |
|
| Process |
- establishment of localization
- transmembrane transport
- transport
|
| Component |
|
|
| Enzyme 40 General Function |
Involved in transporter activity |
| Enzyme 40 Specific Function |
Transports pantothenate, biotin and lipoate in the presence of sodium |
| Enzyme 40 Pathways |
Not Available |
| Enzyme 40 Reactions |
Not Available |
| Enzyme 40 Pfam Domain Function |
|
| Enzyme 40 Signals |
|
| Enzyme 40 Transmembrane Regions |
- 24-44
68-88
101-121
143-163
176-196
199-219
256-276
297-317
336-356
396-416
428-448
456-476
528-548
|
| Enzyme 40 Essentiality |
Not Available |
| Enzyme 40 GenBank ID Protein |
62702246  |
| Enzyme 40 UniProtKB/Swiss-Prot ID |
Q9Y289  |
| Enzyme 40 UniProtKB/Swiss-Prot Entry Name |
SC5A6_HUMAN  |
| Enzyme 40 PDB ID |
Not Available |
| Enzyme 40 Cellular Location |
Not Available |
| Enzyme 40 Gene Sequence |
>1908 bp
ATGAGTGTAGGGGTGAGCACCTCAGCCCCTCTTTCCCCAACCTCGGGCACAAGCGTGGGC
ATGTCTACCTTCTCCATCATGGACTATGTGGTGTTCGTCCTGCTGCTGGTTCTCTCTCTT
GCCATTGGGCTCTACCATGCTTGTCGTGGCTGGGGCCGGCATACTGTTGGTGAGCTGCTG
ATGGCGGACCGCAAAATGGGCTGCCTTCCGGTGGCACTGTCCCTGCTGGCCACCTTCCAG
TCAGCCGTGGCCATCCTGGGTGTGCCGTCAGAGATCTACCGATTTGGGACCCAATATTGG
TTCCTGGGCTGCTGCTACTTTCTGGGGCTGCTGATACCTGCACACATCTTCATCCCCGTT
TTCTACCGCCTGCATCTCACCAGTGCCTATGAGTACCTGGAGCTTCGATTCAATAAAACT
GTGCGAGTGTGTGGAACTGTGACCTTCATCTTTCAGATGGTGATCTACATGGGAGTTGTG
CTCTATGCTCCGTCATTGGCTCTCAATGCAGTGACTGGCTTTGATCTGTGGCTGTCCGTG
CTGGCCCTGGGCATTGTCTGTACCGTCTATACAGCTCTGGGTGGGCTGAAGGCCGTCATC
TGGACAGATGTGTTCCAGACACTGGTCATGTTCCTCGGGCAGCTGGCAGTTATCATTGTG
GGGTCAGCCAAGGTGGGCGGCTTGGGGCGTGTGTGGGCCGTGGCTTCCCAGCACGGCCGC
ATCTCTGGGTTTGAGCTGGATCCAGACCCCTTTGTGCGGCACACCTTCTGGACCTTGGCC
TTCGGGGGTGTCTTCATGATGCTCTCCTTATACGGGGTGAACCAGGCTCAGGTGCAGCGG
TACCTCAGTTCCCGCACGGAGAAGGCTGCTGTGCTCTCCTGTTATGCAGTGTTCCCCTTC
CAGCAGGTGTCCCTCTGCGTGGGCTGCCTCATTGGCCTGGTCATGTTCGCGTATTACCAG
GAGTATCCCATGAGCATTCAGCAGGCTCAGGCAGCCCCAGACCAGTTCGTCCTGTACTTT
GTGATGGATCTCCTGAAGGGCCTGCCAGGCCTGCCAGGGCTCTTCATTGCCTGCCTCTTC
AGCGGCTCTCTCAGCACTATATCCTCTGCTTTTAATTCATTGGCAACTGTTACGATGGAA
GACCTGATTCGACCTTGGTTCCCTGAGTTCTCTGAAGCCCGGGCCATCATGCTTTCCAGA
GGCCTTGCCTTTGGCTATGGGCTGCTTTGTCTAGGAATGGCCTATATTTCCTCCCAGATG
GGACCTGTGCTGCAGGCAGCAATCAGCATCTTTGGCATGGTTGGGGGACCGCTGCTGGGA
CTCTTCTGCCTTGGAATGTTCTTTCCATGTGCTAACCCTCCTGGTGCTGTTGTGGGCCTG
TTGGCTGGGCTCGTCATGGCCTTCTGGATTGGCATCGGGAGCATCGTGACCAGCATGGGC
TCCAGCATGCCACCCTCTCCCTCTAATGGGTCCAGCTTCTCCCTGCCCACCAATCTAACC
GTTGCCACTGTGACCACACTGATGCCCTTGACTACCTTCTCCAAGCCCACAGGGCTGCAG
CGGTTCTATTCCTTGTCTTACTTATGGTACAGTGCTCACAACTCCACCACAGTGATTGTG
GTGGGCCTGATTGTCAGTCTACTCACTGGGAGAATGCGAGGCCGGTCCCTGAACCCTGCA
ACCATTTACCCAGTGTTGCCAAAGCTCCTGTCCCTCCTTCCGTTGTCCTGTCAGAAGCGG
CTCCACTGCAGGAGCTACGGCCAGGACCACCTCGACACTGGCCTGTTTCCTGAGAAGCCG
AGGAATGGTGTGCTGGGGGACAGCAGAGACAAGGAGGCCATGGCCCTGGATGGCACAGCC
TATCAGGGGAGCAGCTCCACCTGCATCCTCCAGGAGACCTCCCTGTGA
|
| Enzyme 40 GenBank Gene ID |
AC013403  |
| Enzyme 40 GeneCard ID |
SLC5A6  |
| Enzyme 40 GenAtlas ID |
SLC5A6  |
| Enzyme 40 HGNC ID |
HGNC:11041  |
| Enzyme 40 Chromosome Location |
2 |
| Enzyme 40 Locus |
2p23 |
| Enzyme 40 SNPs |
SNPJam Report  |
| Enzyme 40 General References |
- Wang H, Huang W, Fei YJ, Xia H, Yang-Feng TL, Leibach FH, Devoe LD, Ganapathy V, Prasad PD: Human placental Na+-dependent multivitamin transporter. Cloning, functional expression, gene structure, and chromosomal localization. J Biol Chem. 1999 May 21;274(21):14875-83. [PubMed
]
- Prasad PD, Wang H, Huang W, Fei YJ, Leibach FH, Devoe LD, Ganapathy V: Molecular and functional characterization of the intestinal Na+-dependent multivitamin transporter. Arch Biochem Biophys. 1999 Jun 1;366(1):95-106. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK: Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434(7034):724-31. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
|
| Enzyme 40 Metabolite References |
Not Available |
|
Enzyme 41
[top]
|
| Enzyme 41 ID |
8123 |
| Enzyme 41 Name |
Renin |
| Enzyme 41 Synonyms |
- Angiotensinogenase
|
| Enzyme 41 Gene Name |
REN |
| Enzyme 41 Protein Sequence |
>Renin
MDGWRRMPRWGLLLLLWGSCTFGLPTDTTTFKRIFLKRMPSIRESLKERGVDMARLGPEW
SQPMKRLTLGNTTSSVILTNYMDTQYYGEIGIGTPPQTFKVVFDTGSSNVWVPSSKCSRL
YTACVYHKLFDASDSSSYKHNGTELTLRYSTGTVSGFLSQDIITVGGITVTQMFGEVTEM
PALPFMLAEFDGVVGMGFIEQAIGRVTPIFDNIISQGVLKEDVFSFYYNRDSENSQSLGG
QIVLGGSDPQHYEGNFHYINLIKTGVWQIQMKGVSVGSSTLLCEDGCLALVDTGASYISG
STSSIEKLMEALGAKKRLFDYVVKCNEGPTLPDISFHLGGKEYTLTSADYVFQESYSSKK
LCTLAIHAMDIPPPTGPTWALGATFIRKFYTEFDRRNNRIGFALAR
|
| Enzyme 41 Number of Residues |
406 |
| Enzyme 41 Molecular Weight |
45057.1 |
| Enzyme 41 Theoretical pI |
7.07 |
| Enzyme 41 GO Classification |
| Function |
- aspartic-type endopeptidase activity
- catalytic activity
- endopeptidase activity
- hydrolase activity
- peptidase activity
- peptidase activity, acting on L-amino acid peptides
|
| Process |
- macromolecule metabolic process
- metabolic process
- protein metabolic process
- proteolysis
|
| Component |
| — |
|
| Enzyme 41 General Function |
Involved in aspartic-type endopeptidase activity |
| Enzyme 41 Specific Function |
Renin is a highly specific endopeptidase, whose only known function is to generate angiotensin I from angiotensinogen in the plasma, initiating a cascade of reactions that produce an elevation of blood pressure and increased sodium retention by the kidney |
| Enzyme 41 Pathways |
Not Available |
| Enzyme 41 Reactions |
- Cleavage of Leu! bond in angiotensinogen to generate angiotensin I
|
| Enzyme 41 Pfam Domain Function |
|
| Enzyme 41 Signals |
|
| Enzyme 41 Transmembrane Regions |
|
| Enzyme 41 Essentiality |
Not Available |
| Enzyme 41 GenBank ID Protein |
49168484  |
| Enzyme 41 UniProtKB/Swiss-Prot ID |
P00797  |
| Enzyme 41 UniProtKB/Swiss-Prot Entry Name |
RENI_HUMAN  |
| Enzyme 41 PDB ID |
1BBS  |
| Enzyme 41 PDB File |
Show |
| Enzyme 41 3D Structure |
|
| Enzyme 41 Cellular Location |
Not Available |
| Enzyme 41 Gene Sequence |
>1221 bp
ATGGATGGATGGAGAAGGATGCCTCGCTGGGGACTGCTGCTGCTGCTCTGGGGCTCCTGT
ACCTTTGGTCTCCCGACAGACACCACCACCTTTAAACGGATCTTCCTCAAGAGAATGCCC
TCAATCCGAGAAAGCCTGAAGGAACGAGGTGTGGACATGGCCAGGCTTGGTCCCGAGTGG
AGCCAACCCATGAAGAGGCTGACCCTTGGCAACACCACCTCCTCCGTGATCCTCACCAAC
TACATGGACACCCAGTACTATGGCGAGATTGGCATCGGCACCCCACCCCAGACCTTCAAA
GTCGTCTTTGACACTGGTTCGTCCAATGTTTGGGTGCCCTCCTCCAAGTGCAGCCGTCTC
TACACTGCCTGTGTGTATCACAAGCTCTTCGATGCTTCGGATTCCTCCAGCTACAAGCAC
AATGGAACAGAACTCACCCTCCGCTATTCAACAGGGACAGTCAGTGGCTTTCTCAGCCAG
GACATCATCACCGTGGGTGGAATCACGGTGACACAGATGTTTGGAGAGGTCACGGAGATG
CCCGCCTTACCCTTCATGCTGGCCGAGTTTGATGGGGTTGTGGGCATGGGCTTCATTGAA
CAGGCCATTGGCAGGGTCACCCCTATCTTCGACAACATCATCTCCCAAGGGGTGCTAAAA
GAGGACGTCTTCTCTTTCTACTACAACAGAGATTCCGAGAATTCCCAATCGCTGGGAGGA
CAGATTGTGCTGGGAGGCAGCGACCCCCAGCATTACGAAGGGAATTTCCACTATATCAAC
CTCATCAAGACTGGTGTCTGGCAGATTCAAATGAAGGGGGTGTCTGTGGGGTCATCCACC
TTGCTCTGTGAAGACGGCTGCCTGGCATTGGTAGACACCGGTGCATCCTACATCTCAGGT
TCTACCAGCTCCATAGAGAAGCTCATGGAGGCCTTGGGAGCCAAGAAGAGGCTGTTTGAT
TATGTCGTGAAGTGTAACGAGGGCCCTACACTCCCCGACATCTCTTTCCACCTGGGAGGC
AAAGAATACACGCTCACCAGCGCGGACTATGTATTTCAGGAATCCTACAGTAGTAAAAAG
CTGTGCACACTGGCCATCCACGCCATGGATATCCCGCCACCCACTGGACCCACCTGGGCC
CTGGGGGCCACCTTCATCCGAAAGTTCTACACAGAGTTTGATCGGCGTAACAACCGCATT
GGCTTCGCCTTGGCCCGCTGA
|
| Enzyme 41 GenBank Gene ID |
CR536498  |
| Enzyme 41 GeneCard ID |
REN  |
| Enzyme 41 GenAtlas ID |
REN  |
| Enzyme 41 HGNC ID |
HGNC:9958  |
| Enzyme 41 Chromosome Location |
1 |
| Enzyme 41 Locus |
1q32 |
| Enzyme 41 SNPs |
SNPJam Report  |
| Enzyme 41 General References |
- Imai T, Miyazaki H, Hirose S, Hori H, Hayashi T, Kageyama R, Ohkubo H, Nakanishi S, Murakami K: Cloning and sequence analysis of cDNA for human renin precursor. Proc Natl Acad Sci U S A. 1983 Dec;80(24):7405-9. [PubMed
]
- Morris BJ: New possibilities for intracellular renin and inactive renin now that the structure of the human renin gene has been elucidated. Clin Sci (Lond). 1986 Oct;71(4):345-55. [PubMed
]
- Hardman JA, Hort YJ, Catanzaro DF, Tellam JT, Baxter JD, Morris BJ, Shine J: Primary structure of the human renin gene. DNA. 1984 Dec;3(6):457-68. [PubMed
]
- Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C, Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K, Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C, Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G, Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V, Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M, Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J, French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM, Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD, Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S, Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S, Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K, Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G, Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL, Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z, Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R, Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S, Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD, Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF, Pandian RD, Porter KM, Prigmore E: The DNA sequence and biological annotation of human chromosome 1. Nature. 2006 May 18;441(7091):315-21. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Soubrier F, Panthier JJ, Corvol P, Rougeon F: Molecular cloning and nucleotide sequence of a human renin cDNA fragment. Nucleic Acids Res. 1983 Oct 25;11(20):7181-90. [PubMed
]
- Fukamizu A, Nishi K, Nishimatsu S, Miyazaki H, Hirose S, Murakami K: Human renin gene of renin-secreting tumor. Gene. 1986;49(1):139-45. [PubMed
]
- Burt DW, Nakamura N, Kelley P, Dzau VJ: Identification of negative and positive regulatory elements in the human renin gene. J Biol Chem. 1989 May 5;264(13):7357-62. [PubMed
]
- Soubrier F, Panthier JJ, Houot AM, Rougeon F, Corvol P: Segmental homology between the promoter region of the human renin gene and the mouse ren1 and ren2 promoter regions. Gene. 1986;41(1):85-92. [PubMed
]
- Ishizuka Y, Shoda A, Yoshida S, Kawamura Y, Haraguchi K, Murakami K: Isolation and characterization of recombinant human prorenin in Chinese hamster ovary cells. J Biochem (Tokyo). 1991 Jan;109(1):30-5. [PubMed
]
- Nguyen G, Delarue F, Burckle C, Bouzhir L, Giller T, Sraer JD: Pivotal role of the renin/prorenin receptor in angiotensin II production and cellular responses to renin. J Clin Invest. 2002 Jun;109(11):1417-27. [PubMed
]
- Sielecki AR, Hayakawa K, Fujinaga M, Murphy ME, Fraser M, Muir AK, Carilli CT, Lewicki JA, Baxter JD, James MN: Structure of recombinant human renin, a target for cardiovascular-active drugs, at 2.5 A resolution. Science. 1989 Mar 10;243(4896):1346-51. [PubMed
]
- Dhanaraj V, Dealwis CG, Frazao C, Badasso M, Sibanda BL, Tickle IJ, Cooper JB, Driessen HP, Newman M, Aguilar C, et al.: X-ray analyses of peptide-inhibitor complexes define the structural basis of specificity for human and mouse renins. Nature. 1992 Jun 11;357(6378):466-72. [PubMed
]
- Gribouval O, Gonzales M, Neuhaus T, Aziza J, Bieth E, Laurent N, Bouton JM, Feuillet F, Makni S, Ben Amar H, Laube G, Delezoide AL, Bouvier R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC: Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. Nat Genet. 2005 Sep;37(9):964-8. Epub 2005 Aug 14. [PubMed
]
|
| Enzyme 41 Metabolite References |
Not Available |
|
Enzyme 42
[top]
|
| Enzyme 42 ID |
8137 |
| Enzyme 42 Name |
Mineralocorticoid receptor |
| Enzyme 42 Synonyms |
- MR
- Nuclear receptor subfamily 3 group C member 2
|
| Enzyme 42 Gene Name |
NR3C2 |
| Enzyme 42 Protein Sequence |
>Mineralocorticoid receptor
METKGYHSLPEGLDMERRWGQVSQAVERSSLGPTERTDENNYMEIVNVSCVSGAIPNNST
QGSSKEKQELLPCLQQDNNRPGILTSDIKTELESKELSATVAESMGLYMDSVRDADYSYE
QQNQQGSMSPAKIYQNVEQLVKFYKGNGHRPSTLSCVNTPLRSFMSDSGSSVNGGVMRAI
VKSPIMCHEKSPSVCSPLNMTSSVCSPAGINSVSSTTASFGSFPVHSPITQGTPLTCSPN
AENRGSRSHSPAHASNVGSPLSSPLSSMKSSISSPPSHCSVKSPVSSPNNVTLRSSVSSP
ANINNSRCSVSSPSNTNNRSTLSSPAASTVGSICSPVNNAFSYTASGTSAGSSTLRDVVP
SPDTQEKGAQEVPFPKTEEVESAISNGVTGQLNIVQYIKPEPDGAFSSSCLGGNSKINSD
SSFSVPIKQESTKHSCSGTSFKGNPTVNPFPFMDGSYFSFMDDKDYYSLSGILGPPVPGF
DGNCEGSGFPVGIKQEPDDGSYYPEASIPSSAIVGVNSGGQSFHYRIGAQGTISLSRSAR
DQSFQHLSSFPPVNTLVESWKSHGDLSSRRSDGYPVLEYIPENVSSSTLRSVSTGSSRPS
KICLVCGDEASGCHYGVVTCGSCKVFFKRAVEGQHNYLCAGRNDCIIDKIRRKNCPACRL
QKCLQAGMNLGARKSKKLGKLKGIHEEQPQQQQPPPPPPPPQSPEEGTTYIAPAKEPSVN
TALVPQLSTISRALTPSPVMVLENIEPEIVYAGYDSSKPDTAENLLSTLNRLAGKQMIQV
VKWAKVLPGFKNLPLEDQITLIQYSWMCLSSFALSWRSYKHTNSQFLYFAPDLVFNEEKM
HQSAMYELCQGMHQISLQFVRLQLTFEEYTIMKVLLLLSTIPKDGLKSQAAFEEMRTNYI
KELRKMVTKCPNNSGQSWQRFYQLTKLLDSMHDLVSDLLEFCFYTFRESHALKVEFPAML
VEIISDQLPKVESGNAKPLYFHRK
|
| Enzyme 42 Number of Residues |
984 |
| Enzyme 42 Molecular Weight |
107066.6 |
| Enzyme 42 Theoretical pI |
7.42 |
| Enzyme 42 GO Classification |
| Function |
- DNA binding
- binding
- cation binding
- ion binding
- ligand-dependent nuclear receptor activity
- metal ion binding
- molecular transducer activity
- nucleic acid binding
- receptor activity
- sequence-specific DNA binding
- sequence-specific DNA binding transcription factor activity
- signal transducer activity
- steroid hormone receptor activity
- transition metal ion binding
- zinc ion binding
|
| Process |
- biological regulation
- regulation of biological process
- regulation of gene expression
- regulation of macromolecule metabolic process
- regulation of metabolic process
- regulation of transcription
- regulation of transcription, DNA-dependent
|
| Component |
- intracellular membrane-bounded organelle
- membrane-bounded organelle
- nucleus
- organelle
|
|
| Enzyme 42 General Function |
Involved in sequence-specific DNA binding transcription factor activity |
| Enzyme 42 Specific Function |
Receptor for both mineralocorticoids (MC) such as aldosterone and glucocorticoids (GC) such as corticosterone or cortisol. Binds to mineralocorticoid response elements (MRE) and transactivates target genes. The effect of MC is to increase ion and water transport and thus raise extracellular fluid volume and blood pressure and lower potassium levels |
| Enzyme 42 Pathways |
Not Available |
| Enzyme 42 Reactions |
Not Available |
| Enzyme 42 Pfam Domain Function |
|
| Enzyme 42 Signals |
|
| Enzyme 42 Transmembrane Regions |
|
| Enzyme 42 Essentiality |
Not Available |
| Enzyme 42 GenBank ID Protein |
Not Available |
| Enzyme 42 UniProtKB/Swiss-Prot ID |
P08235  |
| Enzyme 42 UniProtKB/Swiss-Prot Entry Name |
MCR_HUMAN  |
| Enzyme 42 PDB ID |
Not Available |
| Enzyme 42 Cellular Location |
Not Available |
| Enzyme 42 Gene Sequence |
>2955 bp
ATGGAGACCAAAGGCTACCACAGTCTCCCTGAAGGTCTAGATATGGAAAGACGGTGGGGT
CAAGTTTCTCAGGCTGTGGAGCGTTCTTCCCTGGGACCTACAGAGAGGACCGATGAGAAT
AACTACATGGAGATTGTCAACGTAAGCTGTGTTTCCGGTGCTATTCCAAACAACAGTACT
CAAGGAAGCAGCAAAGAAAAACAAGAACTACTCCCTTGCCTTCAGCAAGACAATAATCGG
CCTGGGATTTTAACATCTGATATTAAAACTGAGCTGGAATCTAAGGAACTTTCAGCAACT
GTAGCTGAGTCCATGGGTTTATATATGGATTCTGTAAGAGATGCTGACTATTCCTATGAG
CAGCAGAACCAACAAGGAAGCATGAGTCCAGCTAAGATTTATCAGAATGTTGAACAGCTG
GTGAAATTTTACAAAGGAAATGGCCATCGTCCTTCCACTCTAAGTTGTGTGAACACGCCC
TTGAGATCATTTATGTCTGACTCTGGGAGCTCCGTGAATGGTGGCGTCATGCGCGCCATT
GTTAAAAGCCCTATCATGTGTCATGAGAAAAGCCCGTCTGTTTGCAGCCCTCTGAACATG
ACATCTTCGGTTTGCAGCCCTGCTGGAATCAACTCTGTGTCCTCCACCACAGCCAGCTTT
GGCAGTTTTCCAGTGCACAGCCCAATCACCCAGGGAACTCCTCTGACATGCTCCCCTAAT
GCTGAAAATCGAGGCTCCAGGTCGCACAGCCCTGCACATGCTAGCAATGTGGGCTCTCCT
CTCTCAAGTCCGTTAAGTAGCATGAAATCCTCAATTTCCAGCCCTCCAAGTCACTGCAGT
GTAAAATCTCCAGTCTCCAGTCCCAATAATGTCACTCTGAGATCCTCTGTGTCTAGCCCT
GCAAATATTAACAACTCAAGGTGCTCTGTTTCCAGCCCTTCGAACACTAATAACAGATCC
ACGCTTTCCAGTCCGGCAGCCAGTACTGTGGGATCTATCTGTAGCCCTGTAAACAATGCC
TTCAGCTACACTGCTTCTGGCACCTCTGCTGGATCCAGTACATTGCGGGATGTGGTTCCC
AGTCCAGACACGCAGGAGAAAGGTGCTCAAGAGGTCCCTTTTCCTAAGACTGAGGAAGTA
GAGAGTGCCATCTCAAATGGTGTGACTGGCCAGCTTAATATTGTCCAGTACATAAAACCA
GAACCAGATGGAGCTTTTAGCAGCTCATGTCTAGGAGGAAATAGCAAAATAAATTCGGAT
TCTTCATTCTCAGTACCAATAAAGCAAGAATCAACCAAGCATTCATGTTCAGGCACCTCT
TTTAAAGGGAATCCAACAGTAAACCCGTTTCCATTTATGGATGGCTCGTATTTTTCCTTT
ATGGATGATAAAGACTATTATTCCCTATCAGGAATTTTAGGACCACCTGTGCCCGGCTTT
GATGGTAACTGTGAAGGCAGCGGATTCCCAGTGGGTATTAAACAAGAACCAGATGACGGG
AGCTATTACCCAGAGGCCAGCATCCCTTCCTCTGCTATTGTTGGGGTGAATTCAGGTGGA
CAGTCCTTCCACTACAGGATTGGTGCTCAAGGTACAATATCTTTATCACGATCGGCTAGA
GACCAATCTTTCCAACACCTGAGTTCCTTTCCTCCTGTCAATACTTTAGTGGAGTCATGG
AAATCACACGGCGACCTGTCGTCTAGAAGAAGTGATGGGTATCCGGTCTTAGAATACATT
CCAGAAAATGTATCAAGCTCTACTTTACGAAGTGTTTCTACTGGATCTTCAAGACCTTCA
AAAATATGTTTGGTGTGTGGGGATGAGGCTTCAGGATGCCATTATGGGGTAGTCACCTGT
GGCAGCTGCAAAGTTTTCTTCAAAAGAGCAGTGGAAGGGCAACACAACTATTTATGTGCT
GGAAGAAATGATTGCATCATTGATAAGATTCGACGAAAGAATTGTCCTGCTTGCAGACTT
CAGAAATGTCTTCAAGCTGGAATGAATTTAGGAGCACGAAAGTCAAAGAAGTTGGGAAAG
TTAAAAGGGATTCACGAGGAGCAGCCACAGCAGCAGCAGCCCCCACCCCCACCCCCACCC
CCGCAAAGCCCAGAGGAAGGGACAACGTACATCGCTCCTGCAAAAGAACCCTCGGTCAAC
ACAGCACTGGTTCCTCAGCTCTCCACAATCTCACGAGCGCTCACACCTTCCCCCGTTATG
GTCCTTGAAAACATTGAACCTGAAATTGTATATGCAGGCTATGACAGCTCAAAACCAGAT
ACAGCCGAAAATCTGCTCTCCACGCTCAACCGCTTAGCAGGCAAACAGATGATCCAAGTC
GTGAAGTGGGCAAAGGTACTTCCAGGATTTAAAAACTTGCCTCTTGAGGACCAAATTACC
CTAATCCAGTATTCTTGGATGTGTCTATCATCATTTGCCTTGAGCTGGAGATCGTACAAA
CATACGAACAGCCAATTTCTCTATTTTGCACCAGACCTAGTCTTTAATGAAGAGAAGATG
CATCAGTCTGCCATGTATGAACTATGCCAGGGGATGCACCAAATCAGCCTTCAGTTCGTT
CGACTGCAGCTCACCTTTGAAGAATACACCATCATGAAAGTTTTGCTGCTACTAAGCACA
ATTCCAAAGGATGGCCTCAAAAGCCAGGCTGCATTTGAAGAAATGAGGACAAATTACATC
AAAGAACTGAGGAAGATGGTAACTAAGTGTCCCAACAATTCTGGGCAGAGCTGGCAGAGG
TTCTACCAACTGACCAAGCTGCTGGACTCCATGCATGACCTGGTGAGCGACCTGCTGGAA
TTCTGCTTCTACACCTTCCGAGAGTCCCATGCGCTGAAGGTAGAGTTCCCCGCAATGCTG
GTGGAGATCATCAGCGACCAGCTGCCCAAGGTGGAGTCGGGGAACGCCAAGCCGCTCTAC
TTCCACCGGAAGTGA
|
| Enzyme 42 GenBank Gene ID |
M16801  |
| Enzyme 42 GeneCard ID |
NR3C2  |
| Enzyme 42 GenAtlas ID |
NR3C2  |
| Enzyme 42 HGNC ID |
HGNC:7979  |
| Enzyme 42 Chromosome Location |
4 |
| Enzyme 42 Locus |
4q31.1 |
| Enzyme 42 SNPs |
SNPJam Report  |
| Enzyme 42 General References |
- Arriza JL, Weinberger C, Cerelli G, Glaser TM, Handelin BL, Housman DE, Evans RM: Cloning of human mineralocorticoid receptor complementary DNA: structural and functional kinship with the glucocorticoid receptor. Science. 1987 Jul 17;237(4812):268-75. [PubMed
]
- Zennaro MC, Souque A, Viengchareun S, Poisson E, Lombes M: A new human MR splice variant is a ligand-independent transactivator modulating corticosteroid action. Mol Endocrinol. 2001 Sep;15(9):1586-98. [PubMed
]
- Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK: Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434(7034):724-31. [PubMed
]
- Geller DS, Rodriguez-Soriano J, Vallo Boado A, Schifter S, Bayer M, Chang SS, Lifton RP: Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat Genet. 1998 Jul;19(3):279-81. [PubMed
]
- Alnemri ES, Maksymowych AB, Robertson NM, Litwack G: Overexpression and characterization of the human mineralocorticoid receptor. J Biol Chem. 1991 Sep 25;266(27):18072-81. [PubMed
]
- Bloem LJ, Guo C, Pratt JH: Identification of a splice variant of the rat and human mineralocorticoid receptor genes. J Steroid Biochem Mol Biol. 1995 Nov;55(2):159-62. [PubMed
]
- Zennaro MC, Farman N, Bonvalet JP, Lombes M: Tissue-specific expression of alpha and beta messenger ribonucleic acid isoforms of the human mineralocorticoid receptor in normal and pathological states. J Clin Endocrinol Metab. 1997 May;82(5):1345-52. [PubMed
]
- Bruner KL, Derfoul A, Robertson NM, Guerriero G, Fernandes-Alnemri T, Alnemri ES, Litwack G: The unliganded mineralocorticoid receptor is associated with heat shock proteins 70 and 90 and the immunophilin FKBP-52. Recept Signal Transduct. 1997;7(2):85-98. [PubMed
]
- Lupo B, Mesnier D, Auzou G: Cysteines 849 and 942 of human mineralocorticoid receptor are crucial for steroid binding. Biochemistry. 1998 Sep 1;37(35):12153-9. [PubMed
]
- Hellal-Levy C, Fagart J, Souque A, Rafestin-Oblin ME: Mechanistic aspects of mineralocorticoid receptor activation. Kidney Int. 2000 Apr;57(4):1250-5. [PubMed
]
- Hellal-Levy C, Fagart J, Souque A, Wurtz JM, Moras D, Rafestin-Oblin ME: Crucial role of the H11-H12 loop in stabilizing the active conformation of the human mineralocorticoid receptor. Mol Endocrinol. 2000 Aug;14(8):1210-21. [PubMed
]
- Odermatt A, Arnold P, Frey FJ: The intracellular localization of the mineralocorticoid receptor is regulated by 11beta-hydroxysteroid dehydrogenase type 2. J Biol Chem. 2001 Jul 27;276(30):28484-92. Epub 2001 May 11. [PubMed
]
- Bledsoe RK, Madauss KP, Holt JA, Apolito CJ, Lambert MH, Pearce KH, Stanley TB, Stewart EL, Trump RP, Willson TM, Williams SP: A ligand-mediated hydrogen bond network required for the activation of the mineralocorticoid receptor. J Biol Chem. 2005 Sep 2;280(35):31283-93. Epub 2005 Jun 20. [PubMed
]
- Li Y, Suino K, Daugherty J, Xu HE: Structural and biochemical mechanisms for the specificity of hormone binding and coactivator assembly by mineralocorticoid receptor. Mol Cell. 2005 Aug 5;19(3):367-80. [PubMed
]
- Fagart J, Huyet J, Pinon GM, Rochel M, Mayer C, Rafestin-Oblin ME: Crystal structure of a mutant mineralocorticoid receptor responsible for hypertension. Nat Struct Mol Biol. 2005 Jun;12(6):554-5. Epub 2005 May 22. [PubMed
]
- Halushka MK, Fan JB, Bentley K, Hsie L, Shen N, Weder A, Cooper R, Lipshutz R, Chakravarti A: Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nat Genet. 1999 Jul;22(3):239-47. [PubMed
]
- Tajima T, Kitagawa H, Yokoya S, Tachibana K, Adachi M, Nakae J, Suwa S, Katoh S, Fujieda K: A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1. J Clin Endocrinol Metab. 2000 Dec;85(12):4690-4. [PubMed
]
- Geller DS, Farhi A, Pinkerton N, Fradley M, Moritz M, Spitzer A, Meinke G, Tsai FT, Sigler PB, Lifton RP: Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy. Science. 2000 Jul 7;289(5476):119-23. [PubMed
]
- Arai K, Nakagomi Y, Iketani M, Shimura Y, Amemiya S, Ohyama K, Shibasaki T: Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism. Hum Genet. 2003 Jan;112(1):91-7. Epub 2002 Oct 25. [PubMed
]
- Sartorato P, Lapeyraque AL, Armanini D, Kuhnle U, Khaldi Y, Salomon R, Abadie V, Di Battista E, Naselli A, Racine A, Bosio M, Caprio M, Poulet-Young V, Chabrolle JP, Niaudet P, De Gennes C, Lecornec MH, Poisson E, Fusco AM, Loli P, Lombes M, Zennaro MC: Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism. J Clin Endocrinol Metab. 2003 Jun;88(6):2508-17. [PubMed
]
- Riepe FG, Finkeldei J, de Sanctis L, Einaudi S, Testa A, Karges B, Peter M, Viemann M, Grotzinger J, Sippell WG, Fejes-Toth G, Krone N: Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. J Clin Endocrinol Metab. 2006 Nov;91(11):4552-61. Epub 2006 Sep 5. [PubMed
]
- Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE: The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314(5797):268-74. Epub 2006 Sep 7. [PubMed
]
- Pujo L, Fagart J, Gary F, Papadimitriou DT, Claes A, Jeunemaitre X, Zennaro MC: Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. Hum Mutat. 2007 Jan;28(1):33-40. [PubMed
]
|
| Enzyme 42 Metabolite References |
Not Available |
|
Enzyme 43
[top]
|
| Enzyme 43 ID |
8156 |
| Enzyme 43 Name |
Equilibrative nucleoside transporter 4 |
| Enzyme 43 Synonyms |
- hENT4
- Plasma membrane monoamine transporter
- Solute carrier family 29 member 4
|
| Enzyme 43 Gene Name |
SLC29A4 |
| Enzyme 43 Protein Sequence |
>Equilibrative nucleoside transporter 4
MGSVGSQRLEEPSVAGTPDPGVVMSFTFDSHQLEEAAEAAQGQGLRARGVPAFTDTTLDE
PVPDDRYHAIYFAMLLAGVGFLLPYNSFITDVDYLHHKYPGTSIVFDMSLTYILVALAAV
LLNNVLVERLTLHTRITAGYLLALGPLLFISICDVWLQLFSRDQAYAINLAAVGTVAFGC
TVQQSSFYGYTGMLPKRYTQGVMTGESTAGVMISLSRILTKLLLPDERASTLIFFLVSVA
LELLCFLLHLLVRRSRFVLFYTTRPRDSHRGRPGLGRGYGYRVHHDVVAGDVHFEHPAPA
LAPNESPKDSPAHEVTGSGGAYMRFDVPRPRVQRSWPTFRALLLHRYVVARVIWADMLSI
AVTYFITLCLFPGLESEIRHCILGEWLPILIMAVFNLSDFVGKILAALPVDWRGTHLLAC
SCLRVVFIPLFILCVYPSGMPALRHPAWPCIFSLLMGISNGYFGSVPMILAAGKVSPKQR
ELAGNTMTVSYMSGLTLGSAVAYCTYSLTRDAHGSCLHASTANGSILAGL
|
| Enzyme 43 Number of Residues |
530 |
| Enzyme 43 Molecular Weight |
58058.0 |
| Enzyme 43 Theoretical pI |
7.76 |
| Enzyme 43 GO Classification |
| Function |
- nucleobase, nucleoside, nucleotide and nucleic acid transmembrane transporter activity
- nucleoside transmembrane transporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- transport
|
| Component |
|
|
| Enzyme 43 General Function |
Involved in nucleoside transmembrane transporter activity |
| Enzyme 43 Specific Function |
Functions as a polyspecific organic cation transporter, efficiently transporting many organic cations such as monoamine neurotransmitters 1-methyl-4-phenylpyridinium and biogenic amines including serotonin, dopamine, norepinephrine and epinephrine. May play a role in regulating central nervous system homeostasis of monoamine neurotransmitters. May be involved in luminal transport of organic cations in the kidney and seems to use luminal proton gradient to drive organic cation reabsorption. Does not seem to transport nucleoside and nucleoside analogs such as uridine, cytidine, thymidine, adenosine, inosine, guanosine, and azidothymidine. In (PubMed:16873718) adenosine is efficiently transported but in a fashion highly sensitive to extracellular pH, with maximal activity in the pH range 5.5 to 6.5. Glu-206 is essential for the cation selectivity and may function as the charge sensor for cationic substrates. Transport is chloride and sodium-independent but appears to be sensitive to changes in membrane potential. Weakly inhibited by the classical inhibitors of equilibrative nucleoside transport, dipyridamole, dilazep, and nitrobenzylthioinosine. May play a role in the regulation of extracellular adenosine concentrations in cardiac tissues, in particular during ischemia |
| Enzyme 43 Pathways |
Not Available |
| Enzyme 43 Reactions |
Not Available |
| Enzyme 43 Pfam Domain Function |
|
| Enzyme 43 Signals |
|
| Enzyme 43 Transmembrane Regions |
- 69-89
102-122
140-160
167-187
232-252
352-372
382-402
417-437
451-471
487-509
|
| Enzyme 43 Essentiality |
Not Available |
| Enzyme 43 GenBank ID Protein |
100913034  |
| Enzyme 43 UniProtKB/Swiss-Prot ID |
Q7RTT9  |
| Enzyme 43 UniProtKB/Swiss-Prot Entry Name |
S29A4_HUMAN  |
| Enzyme 43 PDB ID |
Not Available |
| Enzyme 43 Cellular Location |
Not Available |
| Enzyme 43 Gene Sequence |
>1593 bp
ATGGGCTCCGTGGGGAGCCAGCGCCTTGAGGAGCCCAGCGTGGCAGGCACACCAGACCCG
GGCGTAGTGATGAGCTTCACCTTCGACAGTCACCAGCTGGAGGAGGCGGCGGAGGCGGCT
CAGGGCCAGGGCCTTAGGGCCAGGGGCGTCCCAGCTTTCACGGATACTACATTGGACGAG
CCAGTGCCCGATGACCGTTATCACGCCATCTACTTTGCGATGCTGCTGGCTGGCGTGGGC
TTCCTGCTGCCATACAACAGCTTCATCACGGACGTGGACTACCTGCATCACAAGTACCCA
GGGACCTCCATCGTGTTTGACATGAGCCTCACCTACATCTTGGTGGCACTGGCAGCTGTC
CTCCTGAACAACGTCCTGGTGGAGAGACTGACCCTGCACACCAGGATCACCGCAGGCTAC
CTCTTAGCCTTGGGCCCTCTCCTTTTTATCAGCATCTGCGACGTGTGGCTGCAGCTCTTC
TCTCGGGACCAGGCCTACGCCATCAACCTGGCCGCTGTGGGCACCGTGGCCTTCGGCTGC
ACAGTGCAGCAATCCAGCTTCTACGGGTACACGGGGATGCTGCCCAAGCGGTACACGCAG
GGGGTGATGACCGGGGAGAGCACGGCGGGCGTGATGATCTCTCTGAGCCGCATCCTCACG
AAGCTGCTGCTGCCCGACGAGCGCGCCAGCACGCTCATCTTCTTCCTGGTGTCGGTGGCG
CTGGAGCTGCTGTGTTTCCTGCTGCACCTGTTAGTGCGGCGCAGCCGCTTCGTGCTCTTC
TATACCACACGGCCGCGTGACAGCCACCGGGGCAGGCCAGGCCTGGGCAGGGGCTATGGC
TACCGCGTGCACCACGACGTTGTCGCCGGGGACGTCCACTTCGAGCACCCAGCCCCGGCC
CTGGCCCCCAACGAGTCCCCAAAGGACAGCCCAGCCCACGAGGTGACCGGCAGCGGCGGG
GCCTACATGCGCTTTGATGTGCCGCGGCCAAGGGTCCAGCGCAGCTGGCCCACCTTCAGA
GCCCTGTTACTGCACCGCTACGTGGTGGCGCGGGTGATCTGGGCCGACATGCTCTCCATC
GCCGTGACCTACTTCATCACGCTGTGCCTGTTCCCCGGCCTCGAGTCTGAGATCCGCCAC
TGCATCCTGGGCGAGTGGCTGCCCATCCTCATCATGGCTGTGTTCAACCTGTCAGACTTC
GTGGGCAAGATCCTGGCAGCCCTGCCCGTGGACTGGCGGGGCACCCACCTGCTGGCCTGC
TCCTGCCTGCGTGTGGTCTTCATCCCCCTCTTCATCCTGTGCGTCTACCCCAGCGGCATG
CCCGCCCTCCGTCACCCCGCCTGGCCCTGCATCTTCTCACTGCTCATGGGCATCAGCAAC
GGCTACTTCGGCAGCGTGCCCATGATCCTGGCGGCAGGCAAAGTGAGCCCCAAGCAGCGG
GAGCTGGCAGGGAACACCATGACCGTGTCCTACATGTCAGGGCTGACGCTGGGGTCCGCC
GTGGCCTACTGCACCTACAGCCTCACCCGCGACGCTCACGGCAGCTGCCTGCACGCCTCC
ACCGCCAATGGTTCCATCCTCGCAGGCCTCTGA
|
| Enzyme 43 GenBank Gene ID |
NM_001040661.1  |
| Enzyme 43 GeneCard ID |
SLC29A4  |
| Enzyme 43 GenAtlas ID |
SLC29A4  |
| Enzyme 43 HGNC ID |
HGNC:23097  |
| Enzyme 43 Chromosome Location |
7 |
| Enzyme 43 Locus |
7p22.1 |
| Enzyme 43 SNPs |
SNPJam Report  |
| Enzyme 43 General References |
- Engel K, Zhou M, Wang J: Identification and characterization of a novel monoamine transporter in the human brain. J Biol Chem. 2004 Nov 26;279(48):50042-9. Epub 2004 Sep 23. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Acimovic Y, Coe IR: Molecular evolution of the equilibrative nucleoside transporter family: identification of novel family members in prokaryotes and eukaryotes. Mol Biol Evol. 2002 Dec;19(12):2199-210. [PubMed
]
- Barnes K, Dobrzynski H, Foppolo S, Beal PR, Ismat F, Scullion ER, Sun L, Tellez J, Ritzel MW, Claycomb WC, Cass CE, Young JD, Billeter-Clark R, Boyett MR, Baldwin SA: Distribution and functional characterization of equilibrative nucleoside transporter-4, a novel cardiac adenosine transporter activated at acidic pH. Circ Res. 2006 Sep 1;99(5):510-9. Epub 2006 Jul 27. [PubMed
]
- Xia L, Engel K, Zhou M, Wang J: Membrane localization and pH-dependent transport of a newly cloned organic cation transporter (PMAT) in kidney cells. Am J Physiol Renal Physiol. 2007 Feb;292(2):F682-90. Epub 2006 Oct 3. [PubMed
]
- Zhou M, Xia L, Engel K, Wang J: Molecular determinants of substrate selectivity of a novel organic cation transporter (PMAT) in the SLC29 family. J Biol Chem. 2007 Feb 2;282(5):3188-95. Epub 2006 Nov 22. [PubMed
]
- Bottalico B, Noskova V, Pilka R, Larsson I, Domanski H, Casslen B, Hansson SR: The organic cation transporters (OCT1, OCT2, EMT) and the plasma membrane monoamine transporter (PMAT) show differential distribution and cyclic expression pattern in human endometrium and early pregnancy decidua. Mol Reprod Dev. 2007 Oct;74(10):1303-11. [PubMed
]
|
| Enzyme 43 Metabolite References |
Not Available |
|
Enzyme 44
[top]
|
| Enzyme 44 ID |
8198 |
| Enzyme 44 Name |
Sodium- and chloride-dependent betaine transporter |
| Enzyme 44 Synonyms |
- BGT-1
- Na(+)/Cl(-) betaine/GABA transporter
- Solute carrier family 6 member 12
|
| Enzyme 44 Gene Name |
SLC6A12 |
| Enzyme 44 Protein Sequence |
>Sodium- and chloride-dependent betaine transporter
MDGKVAVQECGPPAVSWVPEEGEKLDQEDEDQVKDRGQWTNKMEFVLSVAGEIIGLGNVW
RFPYLCYKNGGGAFFIPYFIFFFVCGIPVFFLEVALGQYTSQGSVTAWRKICPLFQGIGL
ASVVIESYLNVYYIIILAWALFYLFSSFTSELPWTTCNNFWNTEHCTDFLNHSGAGTVTP
FENFTSPVMEFWERRVLGITSGIHDLGSLRWELALCLLLAWVICYFCIWKGVKSTGKVVY
FTATFPYLMLVILLIRGVTLPGAYQGIIYYLKPDLFRLKDPQVWMDAGTQIFFSFAICQG
CLTALGSYNKYHNNCYKDCIALCFLNSATSFVAGFVVFSILGFMSQEQGVPISEVAESGP
GLAFIAFPKAVTMMPLSQLWSCLFFIMLIFLGLDSQFVCVECLVTASIDMFPRQLRKSGR
RELLILTIAVMCYLIGLFLVTEGGMYIFQLFDYYASSGICLLFLSLFEVVCISWVYGADR
FYDNIEDMIGYRPWPLVKISWLFLTPGLCLATFLFSLSKYTPLKYNNVYVYPPWGYSIGW
FLALSSMVCVPLFVVITLLKTRGPFRKRLRQLITPDSSLPQPKQHPCLDGSAGRNFGPSP
TREGLIAGEKETHL
|
| Enzyme 44 Number of Residues |
614 |
| Enzyme 44 Molecular Weight |
69367.7 |
| Enzyme 44 Theoretical pI |
6.25 |
| Enzyme 44 GO Classification |
| Function |
- gamma-aminobutyric acid:sodium symporter activity
- neurotransmitter transporter activity
- neurotransmitter:sodium symporter activity
- organic acid transmembrane transporter activity
- organic acid:sodium symporter activity
- sodium:amino acid symporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- neurotransmitter transport
- transport
|
| Component |
- cell part
- integral to membrane
- integral to plasma membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 44 General Function |
Involved in gamma-aminobutyric acid:sodium symporter ac |
| Enzyme 44 Specific Function |
Transports betaine and GABA. May have a role in regulation of GABAergic transmission in the brain through the reuptake of GABA into presynaptic terminals, as well as in osmotic regulation |
| Enzyme 44 Pathways |
Not Available |
| Enzyme 44 Reactions |
Not Available |
| Enzyme 44 Pfam Domain Function |
|
| Enzyme 44 Signals |
|
| Enzyme 44 Transmembrane Regions |
- 45-65
73-92
117-137
211-229
238-255
291-308
320-341
374-393
423-441
458-478
499-518
538-556
|
| Enzyme 44 Essentiality |
Not Available |
| Enzyme 44 GenBank ID Protein |
171184406  |
| Enzyme 44 UniProtKB/Swiss-Prot ID |
P48065  |
| Enzyme 44 UniProtKB/Swiss-Prot Entry Name |
S6A12_HUMAN  |
| Enzyme 44 PDB ID |
Not Available |
| Enzyme 44 Cellular Location |
Not Available |
| Enzyme 44 Gene Sequence |
>1845 bp
ATGGACGGGAAGGTGGCAGTGCAAGAGTGTGGGCCTCCTGCAGTCTCCTGGGTCCCCGAG
GAGGGAGAGAAGTTGGACCAGGAAGACGAGGACCAGGTGAAGGATCGGGGCCAATGGACC
AACAAGATGGAGTTTGTGCTGTCAGTGGCCGGGGAGATCATTGGGCTGGGCAATGTCTGG
AGGTTTCCCTATCTCTGCTACAAAAACGGAGGTGGAGCCTTCTTCATCCCCTACTTCATC
TTCTTCTTTGTCTGCGGCATCCCGGTGTTCTTCCTGGAGGTGGCGTTGGGCCAATACACC
AGCCAAGGGAGTGTCACAGCCTGGAGGAAGATCTGCCCCCTCTTCCAGGGCATTGGTCTG
GCATCTGTGGTCATCGAGTCATATTTGAATGTCTACTACATCATCATCCTTGCCTGGGCT
CTCTTCTACCTGTTCAGCTCCTTCACTTCTGAGCTGCCCTGGACGACCTGCAACAACTTT
TGGAACACAGAGCATTGCACGGACTTTCTGAACCACTCAGGAGCCGGCACAGTGACCCCA
TTTGAGAATTTTACCTCACCTGTCATGGAATTCTGGGAGAGACGAGTTCTGGGCATCACC
TCGGGCATCCATGACCTGGGCTCCCTGCGCTGGGAGCTGGCCCTGTGCCTCCTGCTCGCC
TGGGTCATCTGCTATTTCTGCATCTGGAAGGGGGTCAAGTCCACAGGCAAGGTGGTTTAT
TTCACAGCCACGTTTCCGTACCTGATGCTTGTCATTTTGCTGATCAGAGGTGTCACCCTT
CCCGGAGCCTACCAGGGCATCATCTACTACTTGAAGCCAGATTTGTTCCGCCTCAAGGAC
CCTCAGGTGTGGATGGATGCGGGCACCCAGATCTTCTTCTCCTTTGCCATCTGCCAGGGG
TGCCTGACAGCCCTGGGCAGCTACAACAAGTATCACAACAACTGCTACAAGGACTGCATC
GCCCTCTGCTTCCTGAACAGTGCCACCAGCTTTGTGGCTGGGTTTGTTGTCTTCTCCATC
CTGGGCTTCATGTCCCAAGAGCAAGGGGTGCCCATTTCTGAAGTGGCCGAGTCAGGTCCT
GGGCTGGCCTTCATCGCCTTCCCCAAGGCTGTGACTATGATGCCCTTATCCCAGCTGTGG
TCCTGCCTGTTCTTTATCATGCTCATATTCCTAGGGCTGGACAGCCAGTTTGTCTGTGTG
GAGTGCCTGGTGACAGCCTCCATAGACATGTTCCCCAGGCAGCTCCGGAAGAGCGGGCGG
CGCGAGCTCCTCATCCTCACCATCGCCGTCATGTGCTACCTGATAGGGCTTTTCCTGGTC
ACCGAGGGCGGGATGTACATCTTCCAGCTGTTTGACTACTATGCTTCCAGTGGCATATGC
CTGCTGTTCCTGTCATTGTTTGAAGTGGTCTGCATAAGCTGGGTGTATGGGGCGGACCGT
TTCTATGACAACATTGAGGACATGATTGGCTACCGGCCATGGCCCCTGGTGAAGATCTCC
TGGCTCTTCCTGACCCCTGGACTTTGCCTGGCCACTTTCCTCTTCTCCTTGAGCAAGTAC
ACCCCCCTCAAGTACAACAACGTCTATGTGTACCCGCCCTGGGGATACTCCATTGGCTGG
TTCCTGGCTCTGTCCTCCATGGTCTGTGTCCCACTCTTCGTCGTCATCACCCTCCTGAAG
ACTCGGGGTCCTTTCAGGAAGCGTCTGCGTCAGCTCATCACCCCTGACTCCAGTCTGCCA
CAGCCCAAGCAACATCCCTGCTTGGATGGCAGTGCTGGCCGGAACTTTGGGCCCTCCCCA
ACAAGGGAAGGACTGATAGCCGGGGAGAAGGAGACCCATTTGTAG
|
| Enzyme 44 GenBank Gene ID |
NM_001122847.1  |
| Enzyme 44 GeneCard ID |
SLC6A12  |
| Enzyme 44 GenAtlas ID |
Not Available |
| Enzyme 44 HGNC ID |
Not Available |
| Enzyme 44 Chromosome Location |
1 |
| Enzyme 44 Locus |
12p13 |
| Enzyme 44 SNPs |
SNPJam Report  |
| Enzyme 44 General References |
- Rasola A, Galietta LJ, Barone V, Romeo G, Bagnasco S: Molecular cloning and functional characterization of a GABA/betaine transporter from human kidney. FEBS Lett. 1995 Oct 16;373(3):229-33. [PubMed
]
- Borden LA, Smith KE, Gustafson EL, Branchek TA, Weinshank RL: Cloning and expression of a betaine/GABA transporter from human brain. J Neurochem. 1995 Mar;64(3):977-84. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Scherer SE, Muzny DM, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes AC, Hernandez J, Hodgson AV, Hume J, Jackson A, Khan ZM, Kovar-Smith C, Lewis LR, Lozado RJ, Metzker ML, Milosavljevic A, Miner GR, Montgomery KT, Morgan MB, Nazareth LV, Scott G, Sodergren E, Song XZ, Steffen D, Lovering RC, Wheeler DA, Worley KC, Yuan Y, Zhang Z, Adams CQ, Ansari-Lari MA, Ayele M, Brown MJ, Chen G, Chen Z, Clerc-Blankenburg KP, Davis C, Delgado O, Dinh HH, Draper H, Gonzalez-Garay ML, Havlak P, Jackson LR, Jacob LS, Kelly SH, Li L, Li Z, Liu J, Liu W, Lu J, Maheshwari M, Nguyen BV, Okwuonu GO, Pasternak S, Perez LM, Plopper FJ, Santibanez J, Shen H, Tabor PE, Verduzco D, Waldron L, Wang Q, Williams GA, Zhang J, Zhou J, Allen CC, Amin AG, Anyalebechi V, Bailey M, Barbaria JA, Bimage KE, Bryant NP, Burch PE, Burkett CE, Burrell KL, Calderon E, Cardenas V, Carter K, Casias K, Cavazos I, Cavazos SR, Ceasar H, Chacko J, Chan SN, Chavez D, Christopoulos C, Chu J, Cockrell R, Cox CD, Dang M, Dathorne SR, David R, Davis CM, Davy-Carroll L, Deshazo DR, Donlin JE, D'Souza L, Eaves KA, Egan A, Emery-Cohen AJ, Escotto M, Flagg N, Forbes LD, Gabisi AM, Garza M, Hamilton C, Henderson N, Hernandez O, Hines S, Hogues ME, Huang M, Idlebird DG, Johnson R, Jolivet A, Jones S, Kagan R, King LM, Leal B, Lebow H, Lee S, LeVan JM, Lewis LC, London P, Lorensuhewa LM, Loulseged H, Lovett DA, Lucier A, Lucier RL, Ma J, Madu RC, Mapua P, Martindale AD, Martinez E, Massey E, Mawhiney S, Meador MG, Mendez S, Mercado C, Mercado IC, Merritt CE, Miner ZL, Minja E, Mitchell T, Mohabbat F, Mohabbat K, Montgomery B, Moore N, Morris S, Munidasa M, Ngo RN, Nguyen NB, Nickerson E, Nwaokelemeh OO, Nwokenkwo S, Obregon M, Oguh M, Oragunye N, Oviedo RJ, Parish BJ, Parker DN, Parrish J, Parks KL, Paul HA, Payton BA, Perez A, Perrin W, Pickens A, Primus EL, Pu LL, Puazo M, Quiles MM, Quiroz JB, Rabata D, Reeves K, Ruiz SJ, Shao H, Sisson I, Sonaike T, Sorelle RP, Sutton AE, Svatek AF, Svetz LA, Tamerisa KS, Taylor TR, Teague B, Thomas N, Thorn RD, Trejos ZY, Trevino BK, Ukegbu ON, Urban JB, Vasquez LI, Vera VA, Villasana DM, Wang L, Ward-Moore S, Warren JT, Wei X, White F, Williamson AL, Wleczyk R, Wooden HS, Wooden SH, Yen J, Yoon L, Yoon V, Zorrilla SE, Nelson D, Kucherlapati R, Weinstock G, Gibbs RA: The finished DNA sequence of human chromosome 12. Nature. 2006 Mar 16;440(7082):346-51. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
|
| Enzyme 44 Metabolite References |
Not Available |
|
Enzyme 45
[top]
|
| Enzyme 45 ID |
8262 |
| Enzyme 45 Name |
Sodium/myo-inositol cotransporter |
| Enzyme 45 Synonyms |
- Na(+)/myo-inositol cotransporter
- Solute carrier family 5 member 3
|
| Enzyme 45 Gene Name |
SLC5A3 |
| Enzyme 45 Protein Sequence |
>Sodium/myo-inositol cotransporter
MRAVLDTADIAIVALYFILVMCIGFFAMWKSNRSTVSGYFLAGRSMTWVTIGASLFVSNI
GSEHFIGLAGSGAASGFAVGAWEFNALLLLQLLGWVFIPIYIRSGVYTMPEYLSKRFGGH
RIQVYFAALSLILYIFTKLSVDLYSGALFIQESLGWNLYVSVILLIGMTALLTVTGGLVA
VIYTDTLQALLMIIGALTLMIISIMEIGGFEEVKRRYMLASPDVTSILLTYNLSNTNSCN
VSPKKEALKMLRNPTDEDVPWPGFILGQTPASVWYWCADQVIVQRVLAAKNIAHAKGSTL
MAGFLKLLPMFIIVVPGMISRILFTDDIACINPEHCMLVCGSRAGCSNIAYPRLVMKLVP
VGLRGLMMAVMIAALMSDLDSIFNSASTIFTLDVYKLIRKSASSRELMIVGRIFVAFMVV
ISIAWVPIIVEMQGGQMYLYIQEVADYLTPPVAALFLLAIFWKRCNEQGAFYGGMAGFVL
GAVRLILAFAYRAPECDQPDNRPGFIKDIHYMYVATGLFWVTGLITVIVSLLTPPPTKEQ
IRTTTFWSKKNLVVKENCSPKEEPYQMQEKSILRCSENNETINHIIPNGKSEDSIKGLQP
EDVNLLVTCREEGNPVASLGHSEAETPVDAYSNGQAALMGEKERKKETDDGGRYWKFIDW
FCGFKSKSLSKRSLRDLMEEEAVCLQMLEETRQVKVILNIGLFAVCSLGIFMFVYFSL
|
| Enzyme 45 Number of Residues |
718 |
| Enzyme 45 Molecular Weight |
79693.1 |
| Enzyme 45 Theoretical pI |
7.30 |
| Enzyme 45 GO Classification |
| Function |
|
| Process |
- establishment of localization
- transmembrane transport
- transport
|
| Component |
|
|
| Enzyme 45 General Function |
Involved in transporter activity |
| Enzyme 45 Specific Function |
Prevents intracellular accumulation of high concentrations of myo-inositol (an osmolyte) that result in impairment of cellular function |
| Enzyme 45 Pathways |
Not Available |
| Enzyme 45 Reactions |
Not Available |
| Enzyme 45 Pfam Domain Function |
|
| Enzyme 45 Signals |
|
| Enzyme 45 Transmembrane Regions |
- 10-29
39-57
87-110
124-144
158-183
187-205
304-324
354-376
407-430
444-462
511-532
696-716
|
| Enzyme 45 Essentiality |
Not Available |
| Enzyme 45 GenBank ID Protein |
2739094  |
| Enzyme 45 UniProtKB/Swiss-Prot ID |
P53794  |
| Enzyme 45 UniProtKB/Swiss-Prot Entry Name |
SC5A3_HUMAN  |
| Enzyme 45 PDB ID |
Not Available |
| Enzyme 45 Cellular Location |
Not Available |
| Enzyme 45 Gene Sequence |
>2157 bp
ATGAGAGCTGTACTGGACACAGCAGACATTGCCATAGTGGCCCTGTATTTTATCCTGGTC
ATGTGCATTGGTTTTTTTGCCATGTGGAAATCTAATAGAAGCACCGTGAGTGGATACTTC
CTGGCGGGGCGCTCTATGACCTGGGTAACAATTGGTGCCTCTCTGTTTGTGAGCAATATT
GGGAGTGAGCACTTCATTGGGCTGGCAGGATCTGGAGCTGCAAGTGGATTTGCAGTGGGC
GCATGGGAATTCAATGCCTTACTGCTTTTACAACTTCTGGGATGGGTTTTCATCCCAATT
TACATCCGGTCAGGGGTATATACCATGCCTGAATACTTGTCCAAGCGATTTGGTGGCCAT
AGGATTCAGGTCTATTTTGCAGCCTTGTCTCTGATTCTCTATATTTTCACCAAGCTCTCG
GTGGATCTGTATTCGGGTGCCCTTTTTATCCAGGAGTCTTTGGGTTGGAATCTTTATGTG
TCTGTCATCCTGCTCATTGGCATGACTGCTTTGCTGACTGTCACCGGAGGCCTTGTTGCA
GTGATCTACACAGACACTCTGCAGGCTCTGCTCATGATCATTGGGGCACTTACACTTATG
ATTATTAGCATAATGGAGATTGGCGGGTTTGAGGAAGTTAAGAGAAGGTACATGTTGGCC
TCACCCGATGTCACTTCCATCTTATTGACATACAACCTTTCCAACACAAATTCTTGTAAT
GTCTCCCCTAAGAAAGAAGCCCTGAAAATGCTGCGGAATCCAACAGATGAAGATGTTCCT
TGGCCTGGATTCATTCTTGGGCAGACCCCAGCTTCAGTATGGTACTGGTGTGCTGACCAA
GTCATCGTGCAGAGGGTCCTTGCAGCCAAAAACATTGCTCATGCCAAAGGCTCTACTCTT
ATGGCTGGCTTCTTAAAGCTCCTGCCAATGTTTATCATAGTTGTCCCAGGAATGATTTCC
AGGATACTGTTTACTGATGATATAGCTTGCATCAACCCAGAGCACTGCATGCTGGTGTGT
GGAAGCAGAGCTGGTTGCTCCAATATTGCTTACCCACGCCTGGTGATGAAGCTGGTTCCT
GTGGGCCTTCGGGGTTTAATGATGGCAGTGATGATTGCAGCTCTGATGAGTGACTTAGAC
TCTATCTTTAACAGTGCCAGTACCATATTCACCCTCGATGTGTACAAACTTATCCGCAAG
AGCGCAAGCTCCCGGGAGTTAATGATTGTGGGGAGGATATTTGTGGCATTTATGGTGGTG
ATCAGCATAGCATGGGTGCCAATCATCGTGGAGATGCAAGGAGGCCAGATGTACCTTTAC
ATTCAGGAGGTAGCAGATTACCTGACACCCCCAGTGGCAGCCTTGTTCCTGCTGGCAATT
TTCTGGAAGCGCTGCAATGAACAAGGGGCTTTCTATGGTGGAATGGCTGGCTTTGTTCTT
GGAGCAGTCCGTTTGATACTGGCCTTTGCCTACCGTGCCCCAGAATGTGACCAACCTGAT
AATAGGCCGGGCTTCATCAAAGACATCCATTATATGTATGTGGCCACAGGATTGTTTTGG
GTCACGGGACTCATTACTGTAATTGTGAGCCTTCTCACACCACCTCCCACAAAGGAACAG
ATTCGAACCACCACCTTTTGGTCTAAGAAGAACCTGGTGGTGAAGGAGAACTGCTCCCCA
AAAGAGGAACCATACCAAATGCAAGAAAAGAGCATTCTGAGATGCAGTGAGAATAATGAG
ACCATCAACCACATCATTCCCAACGGGAAATCTGAAGACAGCATTAAGGGCCTTCAGCCT
GAAGATGTTAATCTGTTGGTAACCTGCAGAGAGGAGGGCAACCCAGTGGCATCCTTAGGT
CATTCAGAGGCAGAAACACCAGTTGACGCTTACTCCAATGGGCAAGCAGCTCTCATGGGT
GAGAAAGAGAGAAAGAAAGAAACGGATGATGGAGGTCGGTACTGGAAGTTCATAGACTGG
TTTTGTGGCTTTAAAAGTAAGAGCCTCAGCAAGAGGAGTCTCAGAGACCTGATGGAAGAG
GAGGCTGTTTGTTTACAGATGCTAGAAGAGACTCGGCAAGTTAAAGTAATACTAAATATT
GGACTTTTTGCTGTGTGTTCACTTGGAATTTTCATGTTTGTTTATTTCTCCTTATGA
|
| Enzyme 45 GenBank Gene ID |
AF027153  |
| Enzyme 45 GeneCard ID |
SLC5A3  |
| Enzyme 45 GenAtlas ID |
SLC5A3  |
| Enzyme 45 HGNC ID |
HGNC:11038  |
| Enzyme 45 Chromosome Location |
2 |
| Enzyme 45 Locus |
21q22.12 |
| Enzyme 45 SNPs |
SNPJam Report  |
| Enzyme 45 General References |
- Berry GT, Mallee JJ, Kwon HM, Rim JS, Mulla WR, Muenke M, Spinner NB: The human osmoregulatory Na+/myo-inositol cotransporter gene (SLC5A3): molecular cloning and localization to chromosome 21. Genomics. 1995 Jan 20;25(2):507-13. [PubMed
]
- Mallee JJ, Atta MG, Lorica V, Rim JS, Kwon HM, Lucente AD, Wang Y, Berry GT: The structural organization of the human Na+/myo-inositol cotransporter (SLC5A3) gene and characterization of the promoter. Genomics. 1997 Dec 15;46(3):459-65. [PubMed
]
- Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS, Toyoda A, Ishii K, Totoki Y, Choi DK, Groner Y, Soeda E, Ohki M, Takagi T, Sakaki Y, Taudien S, Blechschmidt K, Polley A, Menzel U, Delabar J, Kumpf K, Lehmann R, Patterson D, Reichwald K, Rump A, Schillhabel M, Schudy A, Zimmermann W, Rosenthal A, Kudoh J, Schibuya K, Kawasaki K, Asakawa S, Shintani A, Sasaki T, Nagamine K, Mitsuyama S, Antonarakis SE, Minoshima S, Shimizu N, Nordsiek G, Hornischer K, Brant P, Scharfe M, Schon O, Desario A, Reichelt J, Kauer G, Blocker H, Ramser J, Beck A, Klages S, Hennig S, Riesselmann L, Dagand E, Haaf T, Wehrmeyer S, Borzym K, Gardiner K, Nizetic D, Francis F, Lehrach H, Reinhardt R, Yaspo ML: The DNA sequence of human chromosome 21. Nature. 2000 May 18;405(6784):311-9. [PubMed
]
|
| Enzyme 45 Metabolite References |
Not Available |
|
Enzyme 46
[top]
|
| Enzyme 46 ID |
8303 |
| Enzyme 46 Name |
Sialin |
| Enzyme 46 Synonyms |
- Membrane glycoprotein HP59
- Sodium/sialic acid cotransporter
- AST
- Solute carrier family 17 member 5
|
| Enzyme 46 Gene Name |
SLC17A5 |
| Enzyme 46 Protein Sequence |
>Sialin
MRSPVRDLARNDGEESTDRTPLLPGAPRAEAAPVCCSARYNLAILAFFGFFIVYALRVNL
SVALVDMVDSNTTLEDNRTSKACPEHSAPIKVHHNQTGKKYQWDAETQGWILGSFFYGYI
ITQIPGGYVASKIGGKMLLGFGILGTAVLTLFTPIAADLGVGPLIVLRALEGLGEGVTFP
AMHAMWSSWAPPLERSKLLSISYAGAQLGTVISLPLSGIICYYMNWTYVFYFFGTIGIFW
FLLWIWLVSDTPQKHKRISHYEKEYILSSLRNQLSSQKSVPWVPILKSLPLWAIVVAHFS
YNWTFYTLLTLLPTYMKEILRFNVQENGFLSSLPYLGSWLCMILSGQAADNLRAKWNFST
LCVRRIFSLIGMIGPAVFLVAAGFIGCDYSLAVAFLTISTTLGGFCSSGFSINHLDIAPS
YAGILLGITNTFATIPGMVGPVIAKSLTPDNTVGEWQTVFYIAAAINVFGAIFFTLFAKG
EVQNWALNDHHGHRH
|
| Enzyme 46 Number of Residues |
495 |
| Enzyme 46 Molecular Weight |
54639.0 |
| Enzyme 46 Theoretical pI |
8.36 |
| Enzyme 46 GO Classification |
| Function |
| — |
| Process |
- establishment of localization
- transmembrane transport
- transport
|
| Component |
| — |
|
| Enzyme 46 General Function |
Involved in transmembrane transport |
| Enzyme 46 Specific Function |
Primary solute translocator for anionic substances; particularly it is a free sialic acid transporter in the lysosomes (Probable) |
| Enzyme 46 Pathways |
Not Available |
| Enzyme 46 Reactions |
Not Available |
| Enzyme 46 Pfam Domain Function |
|
| Enzyme 46 Signals |
|
| Enzyme 46 Transmembrane Regions |
- 42-62
110-130
137-157
159-179
201-221
228-248
280-300
329-349
366-386
392-412
424-444
458-478
|
| Enzyme 46 Essentiality |
Not Available |
| Enzyme 46 GenBank ID Protein |
6912666  |
| Enzyme 46 UniProtKB/Swiss-Prot ID |
Q9NRA2  |
| Enzyme 46 UniProtKB/Swiss-Prot Entry Name |
S17A5_HUMAN  |
| Enzyme 46 PDB ID |
Not Available |
| Enzyme 46 Cellular Location |
Not Available |
| Enzyme 46 Gene Sequence |
>1488 bp
ATGAGGTCTCCGGTTCGAGACCTGGCCCGGAACGATGGCGAGGAGAGCACGGACCGCACG
CCTCTTCTACCGGGCGCCCCACGGGCCGAAGCCGCTCCAGTGTGCTGCTCTGCTCGTTAC
AACTTAGCAATTTTGGCCTTTTTTGGTTTCTTCATTGTGTATGCATTACGTGTGAATCTG
AGTGTTGCGTTAGTGGATATGGTAGATTCAAATACAACTTTAGAAGATAATAGAACTTCC
AAGGCGTGTCCAGAGCATTCTGCTCCCATAAAAGTTCATCATAATCAAACGGGTAAGAAG
TACCAATGGGATGCAGAAACTCAAGGATGGATTCTCGGTTCCTTTTTTTATGGCTACATC
ATCACACAGATTCCTGGAGGATATGTTGCCAGCAAAATAGGGGGGAAAATGCTGCTAGGA
TTTGGGATCCTTGGCACTGCTGTCCTCACCCTGTTCACTCCCATTGCTGCAGATTTAGGA
GTTGGACCACTCATTGTACTCAGAGCACTAGAAGGACTAGGAGAGGGTGTTACATTTCCA
GCCATGCATGCCATGTGGTCTTCTTGGGCTCCCCCTCTTGAAAGAAGCAAACTTCTTAGC
ATTTCATATGCAGGAGCACAGCTTGGGACAGTAATTTCTCTTCCTCTTTCTGGAATAATT
TGCTACTATATGAATTGGACTTATGTCTTCTACTTTTTTGGTACTATTGGAATATTTTGG
TTTCTTTTGTGGATCTGGTTAGTTAGTGACACACCACAAAAACACAAGAGAATTTCCCAT
TATGAAAAGGAATACATTCTTTCATCATTAAGAAATCAGCTTTCTTCACAGAAGTCAGTG
CCGTGGGTACCCATTTTAAAATCCCTGCCACTTTGGGCTATCGTAGTTGCACACTTTTCT
TACAACTGGACTTTTTATACTTTATTGACATTATTGCCTACTTATATGAAGGAGATCCTA
AGGTTCAATGTTCAAGAGAATGGGTTTTTATCTTCATTGCCTTATTTAGGCTCTTGGTTA
TGTATGATCCTGTCTGGTCAAGCTGCTGACAATTTAAGGGCAAAATGGAATTTTTCAACT
TTATGTGTTCGCAGAATTTTTAGCCTTATAGGAATGATTGGACCTGCAGTATTCCTGGTA
GCTGCTGGCTTCATTGGCTGTGATTATTCTTTGGCCGTTGCTTTCCTAACTATATCAACA
ACACTGGGAGGCTTTTGCTCTTCTGGATTTAGCATCAACCATCTGGATATTGCTCCTTCG
TATGCTGGTATCCTCCTGGGCATCACAAATACATTTGCCACTATTCCAGGAATGGTTGGG
CCCGTCATTGCTAAAAGTCTGACCCCTGATAACACTGTTGGAGAATGGCAAACCGTGTTC
TATATTGCTGCTGCTATTAATGTTTTTGGTGCCATTTTCTTTACACTATTCGCCAAAGGT
GAAGTACAAAACTGGGCTCTCAATGATCACCATGGACACAGACACTGA
|
| Enzyme 46 GenBank Gene ID |
NM_012434.4  |
| Enzyme 46 GeneCard ID |
SLC17A5  |
| Enzyme 46 GenAtlas ID |
SLC17A5  |
| Enzyme 46 HGNC ID |
HGNC:10933  |
| Enzyme 46 Chromosome Location |
6 |
| Enzyme 46 Locus |
6q14-q15 |
| Enzyme 46 SNPs |
SNPJam Report  |
| Enzyme 46 General References |
- Fu C, Bardhan S, Cetateanu ND, Wamil BD, Wang Y, Yan HP, Shi E, Carter C, Venkov C, Yakes FM, Page DL, Lloyd RS, Mernaugh RL, Hellerqvist CG: Identification of a novel membrane protein, HP59, with therapeutic potential as a target of tumor angiogenesis. Clin Cancer Res. 2001 Dec;7(12):4182-94. [PubMed
]
- Verheijen FW, Verbeek E, Aula N, Beerens CE, Havelaar AC, Joosse M, Peltonen L, Aula P, Galjaard H, van der Spek PJ, Mancini GM: A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. Nat Genet. 1999 Dec;23(4):462-5. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L, Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J, Beck S: The DNA sequence and analysis of human chromosome 6. Nature. 2003 Oct 23;425(6960):805-11. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Schroder B, Wrocklage C, Pan C, Jager R, Kosters B, Schafer H, Elsasser HP, Mann M, Hasilik A: Integral and associated lysosomal membrane proteins. Traffic. 2007 Dec;8(12):1676-86. Epub 2007 Sep 26. [PubMed
]
- Aula N, Salomaki P, Timonen R, Verheijen F, Mancini G, Mansson JE, Aula P, Peltonen L: The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation. Am J Hum Genet. 2000 Oct;67(4):832-40. Epub 2000 Aug 17. [PubMed
]
- Martin RA, Slaugh R, Natowicz M, Pearlman K, Orvisky E, Krasnewich D, Kleta R, Huizing M, Gahl WA: Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs. Am J Med Genet A. 2003 Jul 1;120(1):23-7. [PubMed
]
|
| Enzyme 46 Metabolite References |
Not Available |
|
Enzyme 47
[top]
|
| Enzyme 47 ID |
8317 |
| Enzyme 47 Name |
Solute carrier family 22 member 16 |
| Enzyme 47 Synonyms |
- Carnitine transporter 2
- CT2
- Fly-like putative transporter 2
- FLIPT2
- Flipt 2
- Organic cation transporter OKB1
- Organic cation/carnitine transporter 6
|
| Enzyme 47 Gene Name |
SLC22A16 |
| Enzyme 47 Protein Sequence |
>Solute carrier family 22 member 16
MGSRHFEGIYDHVGHFGRFQRVLYFICAFQNISCGIHYLASVFMGVTPHHVCRPPGNVSQ
VVFHNHSNWSLEDTGALLSSGQKDYVTVQLQNGEIWELSRCSRNKRENTSSLGYEYTGSK
KEFPCVDGYIYDQNTWKSTAVTQWNLVCDRKWLAMLIQPLFMFGVLLGSVTFGYFSDRLG
RRVVLWATSSSMFLFGIAAAFAVDYYTFMAARFFLAMVASGYLVVGFVYVMEFIGMKSRT
WASVHLHSFFAVGTLLVALTGYLVRTWWLYQMILSTVTVPFILCCWVLPETPFWLLSEGR
YEEAQKIVDIMAKWNRASSCKLSELLSLDLQGPVSNSPTEVQKHNLSYLFYNWSITKRTL
TVWLIWFTGSLGFYSFSLNSVNLGGNEYLNLFLLGVVEIPAYTFVCIAMDKVGRRTVLAY
SLFCSALACGVVMVIPQKHYILGVVTAMVGKFAIGAAFGLIYLYTAELYPTIVRSLAVGS
GSMVCRLASILAPFSVDLSSIWIFIPQLFVGTMALLSGVLTLKLPETLGKRLATTWEEAA
KLESENESKSSKLLLTTNNSGLEKTEAITPRDSGLGE
|
| Enzyme 47 Number of Residues |
577 |
| Enzyme 47 Molecular Weight |
64613.6 |
| Enzyme 47 Theoretical pI |
8.23 |
| Enzyme 47 GO Classification |
| Function |
|
| Process |
- establishment of localization
- transmembrane transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane part
|
|
| Enzyme 47 General Function |
Involved in transporter activity |
| Enzyme 47 Specific Function |
High affinity carnitine transporter; the uptake is partially sodium-ion dependent. Thought to mediate the L-carnitine secretion mechanism from testis epididymal epithelium into the lumen which is involved in the maturation of spermatozoa. Also transports organic cations such as tetraethylammonium (TEA) and doxorubicin. The uptake of TEA is inhibited by various organic cations. The uptake of doxorubicin is sodium-independent |
| Enzyme 47 Pathways |
Not Available |
| Enzyme 47 Reactions |
Not Available |
| Enzyme 47 Pfam Domain Function |
|
| Enzyme 47 Signals |
|
| Enzyme 47 Transmembrane Regions |
- 23-43
152-172
183-203
214-234
244-264
268-288
359-379
389-409
416-436
441-461
476-496
501-521
|
| Enzyme 47 Essentiality |
Not Available |
| Enzyme 47 GenBank ID Protein |
31542327  |
| Enzyme 47 UniProtKB/Swiss-Prot ID |
Q86VW1  |
| Enzyme 47 UniProtKB/Swiss-Prot Entry Name |
S22AG_HUMAN  |
| Enzyme 47 PDB ID |
Not Available |
| Enzyme 47 Cellular Location |
Not Available |
| Enzyme 47 Gene Sequence |
>1734 bp
ATGGGGTCCCGCCACTTCGAGGGGATTTATGACCACGTGGGGCACTTCGGCAGATTCCAG
AGAGTCCTCTATTTCATATGTGCCTTCCAGAACATCTCTTGTGGTATTCACTACTTGGCT
TCTGTGTTCATGGGAGTCACCCCTCATCATGTCTGCAGGCCCCCAGGCAATGTGAGTCAG
GTTGTTTTCCATAATCACTCTAATTGGAGTTTGGAGGACACCGGGGCCCTGTTGTCTTCA
GGCCAGAAAGATTATGTTACGGTGCAGTTGCAGAATGGTGAGATCTGGGAGCTCTCAAGG
TGTAGCAGGAATAAGAGGGAGAACACATCGAGTTTGGGCTATGAATACACTGGCAGTAAG
AAAGAGTTTCCTTGTGTGGATGGCTACATATATGACCAGAACACATGGAAAAGCACTGCG
GTGACCCAGTGGAACCTGGTCTGTGACCGAAAATGGCTTGCAATGCTGATCCAGCCCCTA
TTTATGTTTGGAGTCCTACTGGGATCGGTGACTTTTGGCTACTTTTCTGACAGGCTAGGA
CGCCGGGTGGTCTTGTGGGCCACAAGCAGTAGCATGTTTTTGTTTGGAATAGCAGCGGCG
TTTGCAGTTGATTATTACACCTTCATGGCTGCTCGCTTTTTTCTTGCCATGGTTGCAAGT
GGCTATCTTGTGGTGGGGTTTGTCTATGTGATGGAATTCATTGGCATGAAGTCTCGGACA
TGGGCGTCTGTCCATTTGCATTCCTTTTTTGCAGTTGGAACCCTGCTGGTGGCTTTGACA
GGATACTTGGTCAGGACCTGGTGGCTTTACCAGATGATCCTCTCCACAGTGACTGTCCCC
TTTATCCTGTGCTGTTGGGTGCTCCCAGAGACACCTTTTTGGCTTCTCTCAGAGGGACGA
TATGAAGAAGCACAAAAAATAGTTGACATCATGGCCAAGTGGAACAGGGCAAGCTCCTGT
AAACTGTCAGAACTTTTATCACTGGACCTACAAGGTCCTGTTAGTAATAGCCCCACTGAA
GTTCAGAAGCACAACCTATCATATCTGTTTTATAACTGGAGCATTACGAAAAGGACACTT
ACCGTTTGGCTAATCTGGTTCACTGGAAGTTTGGGATTCTACTCGTTTTCCTTGAATTCT
GTTAACTTAGGAGGCAATGAATACTTAAACCTCTTCCTCCTGGGTGTAGTGGAAATTCCC
GCCTACACCTTCGTGTGCATCGCCATGGACAAGGTCGGGAGGAGAACAGTCCTGGCCTAC
TCTCTTTTCTGCAGTGCACTGGCCTGTGGTGTCGTTATGGTGATCCCCCAGAAACATTAT
ATTTTGGGTGTGGTGACAGCTATGGTTGGAAAATTTGCCATCGGGGCAGCATTTGGCCTC
ATTTATCTTTATACAGCTGAGCTGTATCCAACCATTGTAAGATCGCTGGCTGTGGGAAGC
GGCAGCATGGTGTGTCGCCTGGCCAGCATCCTGGCGCCGTTCTCTGTGGACCTCAGCAGC
ATTTGGATCTTCATACCACAGTTGTTTGTTGGGACTATGGCCCTCCTGAGTGGAGTGTTA
ACACTAAAGCTTCCAGAAACCCTTGGGAAACGGCTAGCAACTACTTGGGAGGAGGCTGCA
AAACTGGAGTCAGAGAATGAAAGCAAGTCAAGCAAATTACTTCTCACAACTAATAATAGT
GGGCTGGAAAAAACGGAAGCGATTACCCCCAGGGATTCTGGTCTTGGTGAATAA
|
| Enzyme 47 GenBank Gene ID |
NM_033125.2  |
| Enzyme 47 GeneCard ID |
SLC22A16  |
| Enzyme 47 GenAtlas ID |
SLC22A16  |
| Enzyme 47 HGNC ID |
HGNC:20302  |
| Enzyme 47 Chromosome Location |
6 |
| Enzyme 47 Locus |
6q22.1|6q21-q22.1 |
| Enzyme 47 SNPs |
SNPJam Report  |
| Enzyme 47 General References |
- Eraly SA, Nigam SK: Novel human cDNAs homologous to Drosophila Orct and mammalian carnitine transporters. Biochem Biophys Res Commun. 2002 Oct 11;297(5):1159-66. [PubMed
]
- Gong S, Lu X, Xu Y, Swiderski CF, Jordan CT, Moscow JA: Identification of OCT6 as a novel organic cation transporter preferentially expressed in hematopoietic cells and leukemias. Exp Hematol. 2002 Oct;30(10):1162-9. [PubMed
]
- Enomoto A, Wempe MF, Tsuchida H, Shin HJ, Cha SH, Anzai N, Goto A, Sakamoto A, Niwa T, Kanai Y, Anders MW, Endou H: Molecular identification of a novel carnitine transporter specific to human testis. Insights into the mechanism of carnitine recognition. J Biol Chem. 2002 Sep 27;277(39):36262-71. Epub 2002 Jun 27. [PubMed
]
- Okabe M, Unno M, Harigae H, Kaku M, Okitsu Y, Sasaki T, Mizoi T, Shiiba K, Takanaga H, Terasaki T, Matsuno S, Sasaki I, Ito S, Abe T: Characterization of the organic cation transporter SLC22A16: a doxorubicin importer. Biochem Biophys Res Commun. 2005 Aug 5;333(3):754-62. [PubMed
]
- Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L, Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J, Beck S: The DNA sequence and analysis of human chromosome 6. Nature. 2003 Oct 23;425(6960):805-11. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Sato N, Ito K, Onogawa T, Akahira J, Unno M, Abe T, Niikura H, Yaegashi N: Expression of organic cation transporter SLC22A16 in human endometria. Int J Gynecol Pathol. 2007 Jan;26(1):53-60. [PubMed
]
- Ota K, Ito K, Akahira J, Sato N, Onogawa T, Moriya T, Unno M, Abe T, Niikura H, Takano T, Yaegashi N: Expression of organic cation transporter SLC22A16 in human epithelial ovarian cancer: a possible role of the adriamycin importer. Int J Gynecol Pathol. 2007 Jul;26(3):334-40. [PubMed
]
|
| Enzyme 47 Metabolite References |
Not Available |
|
Enzyme 48
[top]
|
| Enzyme 48 ID |
8319 |
| Enzyme 48 Name |
Sodium- and chloride-dependent GABA transporter 1 |
| Enzyme 48 Synonyms |
- GAT-1
- Solute carrier family 6 member 1
|
| Enzyme 48 Gene Name |
SLC6A1 |
| Enzyme 48 Protein Sequence |
>Sodium- and chloride-dependent GABA transporter 1
MATNGSKVADGQISTEVSEAPVANDKPKTLVVKVQKKAADLPDRDTWKGRFDFLMSCVGY
AIGLGNVWRFPYLCGKNGGGAFLIPYFLTLIFAGVPLFLLECSLGQYTSIGGLGVWKLAP
MFKGVGLAAAVLSFWLNIYYIVIISWAIYYLYNSFTTTLPWKQCDNPWNTDRCFSNYSMV
NTTNMTSAVVEFWERNMHQMTDGLDKPGQIRWPLAITLAIAWILVYFCIWKGVGWTGKVV
YFSATYPYIMLIILFFRGVTLPGAKEGILFYITPNFRKLSDSEVWLDAATQIFFSYGLGL
GSLIALGSYNSFHNNVYRDSIIVCCINSCTSMFAGFVIFSIVGFMAHVTKRSIADVAASG
PGLAFLAYPEAVTQLPISPLWAILFFSMLLMLGIDSQFCTVEGFITALVDEYPRLLRNRR
ELFIAAVCIISYLIGLSNITQGGIYVFKLFDYYSASGMSLLFLVFFECVSISWFYGVNRF
YDNIQEMVGSRPCIWWKLCWSFFTPIIVAGVFIFSAVQMTPLTMGNYVFPKWGQGVGWLM
ALSSMVLIPGYMAYMFLTLKGSLKQRIQVMVQPSEDIVRPENGPEQPQAGSSTSKEAYI
|
| Enzyme 48 Number of Residues |
599 |
| Enzyme 48 Molecular Weight |
67073.0 |
| Enzyme 48 Theoretical pI |
8.16 |
| Enzyme 48 GO Classification |
| Function |
- gamma-aminobutyric acid:sodium symporter activity
- neurotransmitter transporter activity
- neurotransmitter:sodium symporter activity
- organic acid transmembrane transporter activity
- organic acid:sodium symporter activity
- sodium:amino acid symporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- neurotransmitter transport
- transport
|
| Component |
- cell part
- integral to membrane
- integral to plasma membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 48 General Function |
Involved in neurotransmitter:sodium symporter activity |
| Enzyme 48 Specific Function |
Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals |
| Enzyme 48 Pathways |
Not Available |
| Enzyme 48 Reactions |
Not Available |
| Enzyme 48 Pfam Domain Function |
|
| Enzyme 48 Signals |
|
| Enzyme 48 Transmembrane Regions |
- 53-73
81-100
124-144
212-230
239-256
292-309
321-342
375-394
422-440
457-477
498-517
536-554
|
| Enzyme 48 Essentiality |
Not Available |
| Enzyme 48 GenBank ID Protein |
31658  |
| Enzyme 48 UniProtKB/Swiss-Prot ID |
P30531  |
| Enzyme 48 UniProtKB/Swiss-Prot Entry Name |
SC6A1_HUMAN  |
| Enzyme 48 PDB ID |
Not Available |
| Enzyme 48 Cellular Location |
Not Available |
| Enzyme 48 Gene Sequence |
>1800 bp
ATGGCGACCAACGGCAGCAAGGTGGCCGACGGGCAGATCTCCACCGAGGTCAGCGAGGCC
CCTGTGGCCAATGACAAGCCCAAAACCTTGGTGGTCAAGGTGCAGAAGAAGGCGGCAGAC
CTCCCCGACCGGGACACGTGGAAGGGCCGCTTCGACTTCCTCATGTCCTGTGTGGGCTAT
GCCATCGGCCTGGGCAACGTCTGGAGGTTCCCCTATCTCTGCGGGAAAAATGGTGGGGGA
GCCTTCCTGATCCCCTATTTCCTGACACTCATCTTTGCGGGGGTCCCACTCTTCCTGCTG
GAGTGCTCCCTGGGCCAGTACACCTCCATCGGGGGGCTAGGGGTATGGAAGCTGGCTCCT
ATGTTCAAGGGCGTGGGCCTTGCGGCTGCTGTGCTATCATTCTGGCTGAACATCTACTAC
ATCGTCATCATCTCCTGGGCCATTTACTACCTGTACAACTCCTTCACCACGACACTGCCG
TGGAAACAGTGCGACAACCCCTGGAACACAGACCGCTGCTTCTCCAACTACAGCATGGTC
AACACTACCAACATGACCAGCGCTGTGGTGGAGTTCTGGGAGCGCAACATGCATCAGATG
ACGGACGGGCTGGATAAGCCAGGTCAGATCCGCTGGCCACTGGCCATCACGCTGGCCATC
GCCTGGATCCTTGTGTATTTCTGTATCTGGAAGGGTGTTGGCTGGACTGGAAAGGTGGTC
TACTTTTCAGCCACATACCCCTACATCATGCTGATCATCCTGTTCTTCCGTGGAGTGACG
CTGCCCGGGGCCAAGGAGGGCATCCTCTTCTACATCACACCCAACTTCCGCAAGCTGTCT
GACTCCGAGGTGTGGCTGGATGCGGCAACCCAGATCTTCTTCTCATACGGGCTGGGCCTG
GGGTCCCTGATCGCTCTCGGGAGCTACAACTCTTTCCACAACAATGTCTACAGGGACTCC
ATCATCGTCTGCTGCATCAATTCGTGCACCAGCATGTTCGCAGGATTCGTCATCTTCTCC
ATCGTGGGCTTCATGGCCCATGTCACCAAGAGGTCCATTGCTGATGTGGCCGCCTCAGGC
CCCGGGCTGGCGTTCCTGGCATACCCAGAGGCGGTGACCCAGCTGCCTATCTCCCCACTC
TGGGCCATCCTCTTCTTCTCCATGCTGTTGATGCTGGGCATTGACAGCCAGTTCTGCACT
GTGGAGGGCTTCATCACAGCCCTGGTGGATGAGTACCCCAGGCTCCTCCGCAACCGCAGA
GAGCTCTTCATTGCTGCTGTCTGCATCATCTCCTACCTGATCGGTCTCTCTAACATCACT
CAGGGGGGTATTTATGTCTTCAAACTCTTTGACTACTACTCTGCCAGTGGCATGAGCCTG
CTGTTCCTCGTGTTCTTTGAATGTGTCTCTATTTCCTGGTTTTACGGTGTCAACCGATTC
TATGACAATATCCAAGAGATGGTTGGATCCAGGCCCTGCATCTGGTGGAAACTCTGCTGG
TCTTTCTTCACACCAATCATTGTGGCGGGCGTGTTCATTTTCAGTGCTGTGCAGATGACG
CCACTCACCATGGGAAACTATGTTTTCCCCAAGTGGGGCCAGGGTGTGGGCTGGCTGATG
GCTCTGTCTTCCATGGTCCTCATCCCCGGGTACATGGCCTACATGTTCCTCGCCCTAAAG
GGCTCCCTGAAGCAGCGCATCCAAGTCATGGTCCAGCCCAGCGAAGACACTGTTCGCCCA
GAGAATGGTCCTGAGCACGCCCAGGCGGGCAGCTCCACCAGCAAGGAGGCCTACATCTAG
|
| Enzyme 48 GenBank Gene ID |
X54673  |
| Enzyme 48 GeneCard ID |
SLC6A1  |
| Enzyme 48 GenAtlas ID |
SLC6A1  |
| Enzyme 48 HGNC ID |
HGNC:11042  |
| Enzyme 48 Chromosome Location |
3 |
| Enzyme 48 Locus |
3p25-p24 |
| Enzyme 48 SNPs |
SNPJam Report  |
| Enzyme 48 General References |
- Nelson H, Mandiyan S, Nelson N: Cloning of the human brain GABA transporter. FEBS Lett. 1990 Aug 20;269(1):181-4. [PubMed
]
- Muzny DM, Scherer SE, Kaul R, Wang J, Yu J, Sudbrak R, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes AC, Hernandez J, Hodgson AV, Hume J, Jackson A, Khan ZM, Kovar-Smith C, Lewis LR, Lozado RJ, Metzker ML, Milosavljevic A, Miner GR, Morgan MB, Nazareth LV, Scott G, Sodergren E, Song XZ, Steffen D, Wei S, Wheeler DA, Wright MW, Worley KC, Yuan Y, Zhang Z, Adams CQ, Ansari-Lari MA, Ayele M, Brown MJ, Chen G, Chen Z, Clendenning J, Clerc-Blankenburg KP, Chen R, Chen Z, Davis C, Delgado O, Dinh HH, Dong W, Draper H, Ernst S, Fu G, Gonzalez-Garay ML, Garcia DK, Gillett W, Gu J, Hao B, Haugen E, Havlak P, He X, Hennig S, Hu S, Huang W, Jackson LR, Jacob LS, Kelly SH, Kube M, Levy R, Li Z, Liu B, Liu J, Liu W, Lu J, Maheshwari M, Nguyen BV, Okwuonu GO, Palmeiri A, Pasternak S, Perez LM, Phelps KA, Plopper FJ, Qiang B, Raymond C, Rodriguez R, Saenphimmachak C, Santibanez J, Shen H, Shen Y, Subramanian S, Tabor PE, Verduzco D, Waldron L, Wang J, Wang J, Wang Q, Williams GA, Wong GK, Yao Z, Zhang J, Zhang X, Zhao G, Zhou J, Zhou Y, Nelson D, Lehrach H, Reinhardt R, Naylor SL, Yang H, Olson M, Weinstock G, Gibbs RA: The DNA sequence, annotation and analysis of human chromosome 3. Nature. 2006 Apr 27;440(7088):1194-8. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
|
| Enzyme 48 Metabolite References |
Not Available |
|
Enzyme 49
[top]
|
| Enzyme 49 ID |
8324 |
| Enzyme 49 Name |
Sodium/hydrogen exchanger 3 |
| Enzyme 49 Synonyms |
- Na(+)/H(+) exchanger 3
- NHE-3
- Solute carrier family 9 member 3
|
| Enzyme 49 Gene Name |
SLC9A3 |
| Enzyme 49 Protein Sequence |
>Sodium/hydrogen exchanger 3
MWGLGARGPDRGLLLALALGGLARAGGVEVEPGGAHGESGGFQVVTFEWAHVQDPYVIAL
WILVASLAKIGFHLSHKVTSVVPESALLIVLGLVLGGIVWAADHIASFTLTPTVFFFYLL
PPIVLDAGYFMPNRLFFGNLGTILLYAVVGTVWNAATTGLSLYGVFLSGLMGDLQIGLLD
FLLFGSLMAAVDPVAVLAVFEEVHVNEVLFIIVFGESLLNDAVTVVLYNVFESFVALGGD
NVTGVDCVKGIVSFFVVSLGGTLVGVVFAFLLSLVTRFTKHVRIIEPGFVFIISYLSYLT
SEMLSLSAILAITFCGICCQKYVKANISEQSATTVRYTMKMLASSAETIIFMFLGISAVN
PFIWTWNTAFVLLTLVFISVYRAIGVVLQTWLLNRYRMVQLEPIDQVVLSYGGLRGAVAF
ALVVLLDGDKVKEKNLFVSTTIIVVFFTVIFQGLTIKPLVQWLKVKRSEHREPRLNEKLH
GRAFDHILSAIEDISGQIGHNYLRDKWSHFDRKFLSRVLMRRSAQKSRDRILNVFHELNL
KDAISYVAEGERRGSLAFIRSPSTDNVVNVDFTPRSSTVEASVSYLLRENVSAVCLDMQS
LEQRRRSIRDAEDMVTHHTLQQYLYKPRQEYKHLYSRHELTPTEDEKQDREIFHRTMRKR
LESFKSTKLGLNQNKKAAKLYKRERAQKRRNSSIPNGKLPMESPAQNFTIKEKDLELSDT
EEPPNYDEEMSGGIEFLASVTKDTASDSPAGIDNPVFSPDEALDRSLLARLPPWLSPGET
VVPSQRARTQIPYSPGTFCRLMPFRLSSKSVDSFLQADGPEERPPAALPESTHM
|
| Enzyme 49 Number of Residues |
834 |
| Enzyme 49 Molecular Weight |
92853.7 |
| Enzyme 49 Theoretical pI |
7.51 |
| Enzyme 49 GO Classification |
| Function |
- cation transmembrane transporter activity
- hydrogen ion transmembrane transporter activity
- inorganic cation transmembrane transporter activity
- ion transmembrane transporter activity
- monovalent cation:hydrogen antiporter activity
- monovalent inorganic cation transmembrane transporter activity
- sodium:hydrogen antiporter activity
- solute:cation antiporter activity
- solute:hydrogen antiporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- biological regulation
- cation homeostasis
- cation transport
- chemical homeostasis
- establishment of localization
- homeostatic process
- ion homeostasis
- ion transport
- monovalent inorganic cation homeostasis
- monovalent inorganic cation transport
- regulation of biological quality
- regulation of pH
- sodium ion transport
- transmembrane transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane part
|
|
| Enzyme 49 General Function |
Involved in solute:hydrogen antiporter activity |
| Enzyme 49 Specific Function |
Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction |
| Enzyme 49 Pathways |
Not Available |
| Enzyme 49 Reactions |
Not Available |
| Enzyme 49 Pfam Domain Function |
|
| Enzyme 49 Signals |
|
| Enzyme 49 Transmembrane Regions |
- 80-99
113-133
140-160
181-202
211-232
253-274
291-309
341-362
370-390
436-456
|
| Enzyme 49 Essentiality |
Not Available |
| Enzyme 49 GenBank ID Protein |
194239733  |
| Enzyme 49 UniProtKB/Swiss-Prot ID |
P48764  |
| Enzyme 49 UniProtKB/Swiss-Prot Entry Name |
SL9A3_HUMAN  |
| Enzyme 49 PDB ID |
Not Available |
| Enzyme 49 Cellular Location |
Not Available |
| Enzyme 49 Gene Sequence |
>2505 bp
ATGTGGGGACTCGGGGCCCGGGGCCCCGACCGGGGGCTGCTGCTGGCGCTGGCGCTGGGC
GGGCTGGCGCGGGCCGGGGGCGTCGAGGTGGAGCCCGGCGGCGCGCACGGCGAGAGCGGG
GGCTTCCAGGTGGTCACCTTCGAGTGGGCCCACGTGCAGGATCCCTACGTCATCGCGCTC
TGGATCCTCGTGGCCAGCTTGGCCAAGATCGGGTTCCACCTGTCCCACAAGGTCACCAGC
GTGGTTCCCGAGAGCGCCCTGCTCATCGTGCTGGGCCTGGTGCTGGGCGGCATCGTCTGG
GCGGCCGACCACATCGCGTCCTTCACACTGACGCCCACCGTCTTCTTCTTCTACCTGCTG
CCCCCCATCGTGCTGGACGCCGGCTACTTCATGCCCAACCGCCTCTTCTTCGGCAACCTG
GGGACCATCCTGTTGTACGCCGTCGTGGGTACCGTGTGGAACGCGGCCACCACCGGGCTG
TCCCTCTACGGCGTCTTCCTCAGTGGGCTCATGGGCGACCTGCAGATTGGGCTGCTGGAC
TTCCTCCTGTTTGGCAGCCTCATGGCGGCTGTGGACCCGGTGGCCGTCCTGGCCGTGTTT
GAGGAGGTCCATGTCAACGAGGTCCTGTTCATCATCGTCTTCGGGGAGTCGCTGCTGAAC
GACGCAGTCACCGTGGTTCTGTACAATGTGTTTGAATCTTTCGTGGCGCTGGGAGGTGAC
AACGTGACTGGCGTGGACTGCGTGAAGGGCATAGTGTCCTTCTTCGTGGTGAGCCTGGGG
GGCACGCTGGTGGGGGTGGTCTTCGCCTTCCTGCTGTCGCTGGTGACGCGCTTCACCAAG
CATGTGCGTATCATCGAGCCCGGCTTCGTGTTCATCATCTCCTACCTGTCCTACCTGACG
TCCGAGATGCTGTCGCTGTCGGCCATCCTCGCCATCACCTTCTGTGGCATCTGCTGTCAG
AAGTATGTGAAGGCCAACATCTCGGAGCAGTCGGCCACCACCGTGCGCTACACCATGAAG
ATGCTGGCCAGCAGCGCCGAGACCATCATCTTCATGTTCCTGGGTATCTCGGCCGTGAAC
CCGTTCATCTGGACCTGGAACACGGCCTTCGTGCTCCTGACGCTGGTCTTCATCTCCGTG
TACCGGGCCATCGGTGTGGTCCTGCAGACCTGGCTTCTGAACCGCTACCGCATGGTGCAG
CTGGAGCCCATTGACCAGGTGGTCCTGTCCTACGGGGGCCTGCGCGGGGCCGTGGCCTTT
GCCCTGGTGGTGCTTCTGGATGGAGACAAGGTCAAGGAGAAGAACCTGTTCGTCAGCACC
ACCATCATCGTAGTGTTCTTCACCGTCATCTTCCAGGGCCTGACCATCAAGCCTCTGGTG
CAGTGGCTGAAGGTGAAGAGGAGCGAGCACCGGGAACCTCGGCTCAACGAGAAGCTGCAC
GGGCGCGCTTTCGACCACATCCTCTCGGCCATCGAGGACATATCCGGACAGATCGGGCAC
AATTATCTCAGAGACAAGTGGTCCCACTTCGACAGGAAGTTCCTCAGCAGGGTCCTCATG
AGACGGTCGGCCCAGAAGTCTCGAGACCGGATCCTGAATGTCTTCCACGAGCTGAACCTG
AAGGATGCCATCAGCTACGTGGCTGAGGGAGAGCGCCGCGGGTCCCTGGCCTTCATCCGC
TCCCCCAGCACCGACAACGTGGTCAACGTGGACTTCACGCCACGATCGTCCACCGTGGAG
GCCTCTGTCTCCTACCTCCTGAGAGAAAATGTCAGCGCTGTCTGCCTGGACATGCAGTCT
CTGGAGCAGCGACGGCGGAGCATCCGGGACGCGGAGGACATGGTCACGCACCACACGCTA
CAGCAGTACCTGTACAAGCCGCGGCAGGAGTACAAGCATCTGTACAGCCGACACGAGCTC
ACGCCCACGGAGGACGAGAAACAGGACCGGGAAATCTTCCACAGGACCATGCGGAAGCGC
CTGGAGTCCTTCAAGTCGACCAAGCTGGGGCTCAACCAGAACAAGAAGGCGGCCAAGCTG
TACAAGCGGGAGCGTGCCCAGAAGCGGAGAAACAGCAGCATCCCCAATGGGAAGCTGCCC
ATGGAGAGCCCTGCGCAGAATTTCACCATCAAGGAGAAAGACTTGGAACTTTCAGACACC
GAGGAGCCCCCCAACTATGATGAGGAGATGAGTGGGGGGATCGAGTTCCTGGCTAGTGTC
ACCAAGGACACAGCGTCCGACTCCCCTGCAGGAATTGACAACCCTGTGTTTTCTCCGGAC
GAGGCCCTGGACCGCAGCCTCCTGGCCAGGCTGCCGCCCTGGCTGTCTCCCGGGGAGACG
GTGGTCCCCTCGCAGAGGGCCCGCACGCAGATTCCCTACTCTCCCGGCACCTTCTGCCGC
CTGATGCCCTTCCGCCTCAGCAGCAAGTCCGTGGACTCCTTCCTGCAGGCAGACGGCCCC
GAGGAGCGGCCCCCCGCCGCCCTCCCCGAGTCCACACACATGTGA
|
| Enzyme 49 GenBank Gene ID |
NM_004174.2  |
| Enzyme 49 GeneCard ID |
SLC9A3  |
| Enzyme 49 GenAtlas ID |
SLC9A3  |
| Enzyme 49 HGNC ID |
HGNC:11073  |
| Enzyme 49 Chromosome Location |
5 |
| Enzyme 49 Locus |
5p15.3 |
| Enzyme 49 SNPs |
SNPJam Report  |
| Enzyme 49 General References |
- Brant SR, Yun CH, Donowitz M, Tse CM: Cloning, tissue distribution, and functional analysis of the human Na+/N+ exchanger isoform, NHE3. Am J Physiol. 1995 Jul;269(1 Pt 1):C198-206. [PubMed
]
- Schmutz J, Martin J, Terry A, Couronne O, Grimwood J, Lowry S, Gordon LA, Scott D, Xie G, Huang W, Hellsten U, Tran-Gyamfi M, She X, Prabhakar S, Aerts A, Altherr M, Bajorek E, Black S, Branscomb E, Caoile C, Challacombe JF, Chan YM, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Glavina T, Gomez M, Gonzales E, Goodstein D, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Lopez F, Lou Y, Martinez D, Medina C, Morgan J, Nandkeshwar R, Noonan JP, Pitluck S, Pollard M, Predki P, Priest J, Ramirez L, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wheeler J, Wu K, Yang J, Dickson M, Cheng JF, Eichler EE, Olsen A, Pennacchio LA, Rokhsar DS, Richardson P, Lucas SM, Myers RM, Rubin EM: The DNA sequence and comparative analysis of human chromosome 5. Nature. 2004 Sep 16;431(7006):268-74. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Zachos NC, Hodson C, Kovbasnjuk O, Li X, Thelin WR, Cha B, Milgram S, Donowitz M: Elevated intracellular calcium stimulates NHE3 activity by an IKEPP (NHERF4) dependent mechanism. Cell Physiol Biochem. 2008;22(5-6):693-704. Epub 2008 Dec 9. [PubMed
]
|
| Enzyme 49 Metabolite References |
Not Available |
|
Enzyme 50
[top]
|
| Enzyme 50 ID |
8367 |
| Enzyme 50 Name |
Sodium/iodide cotransporter |
| Enzyme 50 Synonyms |
- Na(+)/I(-) cotransporter
- Sodium-iodide symporter
- Na(+)/I(-) symporter
- Solute carrier family 5 member 5
|
| Enzyme 50 Gene Name |
SLC5A5 |
| Enzyme 50 Protein Sequence |
>Sodium/iodide cotransporter
MEAVETGERPTFGAWDYGVFALMLLVSTGIGLWVGLARGGQRSAEDFFTGGRRLAALPVG
LSLSASFMSAVQVLGVPSEAYRYGLKFLWMCLGQLLNSVLTALLFMPVFYRLGLTSTYEY
LEMRFSRAVRLCGTLQYIVATMLYTGIVIYAPALILNQVTGLDIWASLLSTGIICTFYTA
VGGMKAVVWTDVFQVVVMLSGFWVVLARGVMLVGGPRQVLTLAQNHSRINLMDFNPDPRS
RYTFWTFVVGGTLVWLSMYGVNQAQVQRYVACRTEKQAKLALLINQVGLFLIVSSAACCG
IVMFVFYTDCDPLLLGRISAPDQYMPLLVLDIFEDLPGVPGLFLACAYSGTLSTASTSIN
AMAAVTVEDLIKPRLRSLAPRKLVIISKGLSLIYGSACLTVAALSSLLGGGVLQGSFTVM
GVISGPLLGAFILGMFLPACNTPGVLAGLGAGLALSLWVALGATLYPPSEQTMRVLPSSA
ARCVALSVNASGLLDPALLPANDSSRAPSSGMDASRPALADSFYAISYLYYGALGTLTTV
LCGALISCLTGPTKRSTLAPGLLWWDLARQTASVAPKEEVAILDDNLVKGPEELPTGNKK
PPGFLPTNEDRLFFLGQKELEGAGSWTPCVGHDGGRDQQETNL
|
| Enzyme 50 Number of Residues |
643 |
| Enzyme 50 Molecular Weight |
68665.6 |
| Enzyme 50 Theoretical pI |
7.43 |
| Enzyme 50 GO Classification |
| Function |
|
| Process |
- establishment of localization
- transmembrane transport
- transport
|
| Component |
|
|
| Enzyme 50 General Function |
Involved in transporter activity |
| Enzyme 50 Specific Function |
Mediates iodide uptake in the thyroid gland |
| Enzyme 50 Pathways |
Not Available |
| Enzyme 50 Reactions |
Not Available |
| Enzyme 50 Pfam Domain Function |
|
| Enzyme 50 Signals |
|
| Enzyme 50 Transmembrane Regions |
- 17-37
54-74
89-109
137-157
164-184
187-207
242-262
287-307
327-347
392-412
417-437
445-465
526-546
|
| Enzyme 50 Essentiality |
Not Available |
| Enzyme 50 GenBank ID Protein |
Not Available |
| Enzyme 50 UniProtKB/Swiss-Prot ID |
Q92911  |
| Enzyme 50 UniProtKB/Swiss-Prot Entry Name |
SC5A5_HUMAN  |
| Enzyme 50 PDB ID |
Not Available |
| Enzyme 50 Cellular Location |
Not Available |
| Enzyme 50 Gene Sequence |
>1932 bp
ATGGAGGCCGTGGAGACCGGGGAACGGCCCACCTTCGGAGCCTGGGACTACGGGGTCTTT
GCCCTCATGCTCCTGGTGTCCACTGGCATCGGGCTGTGGGTCGGGCTGGCTCGGGGCGGG
CAGCGCAGCGCTGAGGACTTCTTCACCGGGGGCCGGCGCCTGGCGGCCCTGCCCGTGGGC
CTGTCGCTGTCTGCCAGCTTCATGTCGGCCGTGCAGGTGCTGGGCGTGCCGTCGGAGGCC
TATCGCTATGGCCTCAAGTTCCTCTGGATGTGCCTGGGCCAGCTTCTGAACTCGGTCCTC
ACCGCCCTGCTCTTCATGCCCGTCTTCTACCGCCTGGGCCTCACCAGCACCTACGAGTAC
CTGGAGATGCGCTTCAGCCGCGCAGTGCGGCTCTGCGGGACTTTGCAGTACATTGTAGCC
ACGATGCTGTACACCGGCATCGTAATCTACGCACCGGCCCTCATCCTGAACCAAGTGACC
GGGCTGGACATCTGGGCGTCGCTCCTGTCCACCGGAATTATCTGCACCTTCTACACGGCT
GTGGGCGGCATGAAGGCTGTGGTCTGGACTGATGTGTTCCAGGTCGTGGTGATGCTAAGT
GGCTTCTGGGTTGTCCTGGCACGCGGTGTCATGCTTGTGGGCGGGCCCCGCCAGGTGCTC
ACGCTGGCCCAGAACCACTCCCGGATCAACCTCATGGACTTTAACCCTGACCCGAGGAGC
CGCTATACATTCTGGACTTTTGTGGTGGGTGGCACGTTGGTGTGGCTCTCCATGTATGGC
GTGAACCAGGCGCAGGTGCAGCGCTACGTGGCTTGCCGCACAGAGAAGCAGGCCAAGCTG
GCCCTGCTCATCAACCAGGTCGGCCTGTTCCTGATCGTGTCCAGCGCTGCCTGCTGTGGC
ATCGTCATGTTTGTGTTCTACACTGACTGCGACCCTCTCCTCCTGGGGCGCATCTCTGCC
CCAGACCAGTACATGCCTCTGCTGGTGCTGGACATCTTCGAAGATCTGCCTGGAGTCCCC
GGGCTTTTCCTGGCCTGTGCTTACAGTGGCACCCTCAGCACAGCATCCACCAGCATCAAT
GCTATGGCTGCAGTCACTGTAGAAGACCTCATCAAACCTCGGCTGCGGAGCCTGGCACCC
AGGAAACTCGTGATTATCTCCAAGGGGCTCTCACTCATCTACGGATCGGCCTGTCTCACC
GTGGCAGCCCTGTCCTCACTGCTCGGAGGAGGTGTCCTTCAGGGCTCCTTCACCGTCATG
GGAGTCATCAGCGGCCCCCTGCTGGGAGCCTTCATCTTGGGAATGTTCCTGCCGGCCTGC
AACACACCGGGCGTCCTCGCGGGACTAGGCGCGGGCTTGGCGCTGTCGCTGTGGGTGGCC
TTGGGCGCCACGCTGTACCCACCCAGCGAGCAGACCATGAGGGTCCTGCCATCGTCGGCT
GCCCGCTGCGTGGCTCTCTCAGTCAACGCCTCTGGCCTCCTGGACCCGGCTCTCCTCCCT
GCTAACGACTCCAGCAGGGCCCCCAGCTCAGGAATGGACGCCAGCCGACCCGCCTTAGCT
GACAGCTTCTATGCCATCTCCTATCTCTATTACGGTGCCCTGGGCACGCTGACCACTGTG
CTGTGCGGAGCCCTCATCAGCTGCCTGACAGGCCCCACCAAGCGCAGCACCCTGGCCCCG
GGATTGTTGTGGTGGGACCTCGCACGGCAGACAGCATCAGTGGCCCCCAAGGAAGAAGTG
GCCATCCTGGATGACAACTTGGTCAAGGGTCCTGAAGAACTCCCCACTGGAAACAAGAAG
CCCCCTGGCTTCCTGCCCACCAATGAGGATCGTCTGTTTTTCTTGGGGCAGAAGGAGCTG
GAGGGGGCTGGCTCTTGGACCCCCTGTGTTGGACATGATGGTGGTCGAGACCAGCAGGAG
ACAAACCTCTGA
|
| Enzyme 50 GenBank Gene ID |
U66088  |
| Enzyme 50 GeneCard ID |
SLC5A5  |
| Enzyme 50 GenAtlas ID |
SLC5A5  |
| Enzyme 50 HGNC ID |
HGNC:11040  |
| Enzyme 50 Chromosome Location |
1 |
| Enzyme 50 Locus |
19p13.2-p12 |
| Enzyme 50 SNPs |
SNPJam Report  |
| Enzyme 50 General References |
- Smanik PA, Liu Q, Furminger TL, Ryu K, Xing S, Mazzaferri EL, Jhiang SM: Cloning of the human sodium lodide symporter. Biochem Biophys Res Commun. 1996 Sep 13;226(2):339-45. [PubMed
]
- Saito T, Endo T, Kawaguchi A, Ikeda M, Nakazato M, Kogai T, Onaya T: Increased expression of the Na+/I- symporter in cultured human thyroid cells exposed to thyrotropin and in Graves' thyroid tissue. J Clin Endocrinol Metab. 1997 Oct;82(10):3331-6. [PubMed
]
- Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J, Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel S, Carrano A, Caoile C, Chan YM, Christensen M, Cleland CA, Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M, Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V, Leem SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S, Pollard M, Popkie AP, Predki P, Quan G, Ramirez L, Rash S, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D, Slezak T, Solovyev V, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS, DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM, Lucas SM: The DNA sequence and biology of human chromosome 19. Nature. 2004 Apr 1;428(6982):529-35. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Fujiwara H, Tatsumi K, Miki K, Harada T, Miyai K, Takai S, Amino N: Congenital hypothyroidism caused by a mutation in the Na+/I- symporter. Nat Genet. 1997 Jun;16(2):124-5. [PubMed
]
- Kosugi S, Inoue S, Matsuda A, Jhiang SM: Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients. J Clin Endocrinol Metab. 1998 Sep;83(9):3373-6. [PubMed
]
- Pohlenz J, Rosenthal IM, Weiss RE, Jhiang SM, Burant C, Refetoff S: Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site. J Clin Invest. 1998 Mar 1;101(5):1028-35. [PubMed
]
- Kosugi S, Bhayana S, Dean HJ: A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect. J Clin Endocrinol Metab. 1999 Sep;84(9):3248-53. [PubMed
]
|
| Enzyme 50 Metabolite References |
Not Available |
|
Enzyme 51
[top]
|
| Enzyme 51 ID |
8380 |
| Enzyme 51 Name |
Sodium- and chloride-dependent creatine transporter 1 |
| Enzyme 51 Synonyms |
- CT1
- Creatine transporter 1
- Solute carrier family 6 member 8
|
| Enzyme 51 Gene Name |
SLC6A8 |
| Enzyme 51 Protein Sequence |
>Sodium- and chloride-dependent creatine transporter 1
MAKKSAENGIYSVSGDEKKGPLIAPGPDGAPAKGDGPVGLGTPGGRLAVPPRETWTRQMD
FIMSCVGFAVGLGNVWRFPYLCYKNGGGVFLIPYVLIALVGGIPIFFLEISLGQFMKAGS
INVWNICPLFKGLGYASMVIVFYCNTYYIMVLAWGFYYLVKSFTTTLPWATCGHTWNTPD
CVEIFRHEDCANASLANLTCDQLADRRSPVIEFWENKVLRLSGGLEVPGALNWEVTLCLL
ACWVLVYFCVWKGVKSTGKIVYFTATFPYVVLVVLLVRGVLLPGALDGIIYYLKPDWSKL
GSPQVWIDAGTQIFFSYAIGLGALTALGSYNRFNNNCYKDAIILALINSGTSFFAGFVVF
SILGFMAAEQGVHISKVAESGPGLAFIAYPRAVTLMPVAPLWAALFFFMLLLLGLDSQFV
GVEGFITGLLDLLPASYYFRFQREISVALCCALCFVIDLSMVTDGGMYVFQLFDYYSASG
TTLLWQAFWECVVVAWVYGADRFMDDIACMIGYRPCPWMKWCWSFFTPLVCMGIFIFNVV
YYEPLVYNNTYVYPWWGEAMGWAFALSSMLCVPLHLLGCLLRAKGTMAERWQHLTQPIWG
LHHLEYRAQDADVRGLTTLTPVSESSKVVVVESVM
|
| Enzyme 51 Number of Residues |
635 |
| Enzyme 51 Molecular Weight |
70522.2 |
| Enzyme 51 Theoretical pI |
6.38 |
| Enzyme 51 GO Classification |
| Function |
- cofactor transporter activity
- creatine transporter activity
- creatine:sodium symporter activity
- neurotransmitter transporter activity
- neurotransmitter:sodium symporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- neurotransmitter transport
- transport
|
| Component |
- cell part
- integral to membrane
- integral to plasma membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 51 General Function |
Involved in neurotransmitter:sodium symporter activity |
| Enzyme 51 Specific Function |
Required for the uptake of creatine in muscles and brain |
| Enzyme 51 Pathways |
Not Available |
| Enzyme 51 Reactions |
Not Available |
| Enzyme 51 Pfam Domain Function |
|
| Enzyme 51 Signals |
|
| Enzyme 51 Transmembrane Regions |
- 61-81
88-108
139-159
231-251
270-290
305-325
342-362
395-415
445-465
480-500
521-541
561-581
|
| Enzyme 51 Essentiality |
Not Available |
| Enzyme 51 GenBank ID Protein |
15214460  |
| Enzyme 51 UniProtKB/Swiss-Prot ID |
P48029  |
| Enzyme 51 UniProtKB/Swiss-Prot Entry Name |
SC6A8_HUMAN  |
| Enzyme 51 PDB ID |
Not Available |
| Enzyme 51 Cellular Location |
Not Available |
| Enzyme 51 Gene Sequence |
>1908 bp
ATGGCGAAGAAGAGCGCCGAGAACGGCATCTATAGCGTGTCCGGCGACGAGAAGAAGGGC
CCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTG
GGGACACCCGGCGGCCGCCTGGCCGTGCCGCCGCGCGAGACCTGGACGCGCCAGATGGAC
TTCATCATGTCGTGCGTGGGCTTCGCCGTGGGCTTGGGCAACGTGTGGCGCTTCCCCTAC
CTGTGCTACAAGAACGGCGGAGGTGTGTTCCTTATTCCCTACGTCCTGATCGCCCTGGTT
GGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGC
ATCAATGTCTGGAACATCTGTCCCCTGTTCAAAGGCCTGGGCTACGCCTCCATGGTGATC
GTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTC
AAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGAC
TGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGT
GACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGAACAAAGTCTTGAGG
CTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTG
GCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGATC
GTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTG
CTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTG
GGGTCCCCTCAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGC
CTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGGAC
GCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTC
TCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCA
GGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCA
CTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGTTTGTA
GGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGT
TTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCC
ATGGTGACTGATGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGC
ACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGAGCT
GACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAA
TGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGGCATCTTCATCTTCAACGTTGTG
TACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATG
GGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTC
CTCAGGGCCAAGGGCACCATGGCTGAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGC
CTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACC
CCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGA
|
| Enzyme 51 GenBank Gene ID |
BC012355  |
| Enzyme 51 GeneCard ID |
SLC6A8  |
| Enzyme 51 GenAtlas ID |
SLC6A8  |
| Enzyme 51 HGNC ID |
HGNC:11055  |
| Enzyme 51 Chromosome Location |
Not Available |
| Enzyme 51 Locus |
Not Available |
| Enzyme 51 SNPs |
SNPJam Report  |
| Enzyme 51 General References |
- Nash SR, Giros B, Kingsmore SF, Rochelle JM, Suter ST, Gregor P, Seldin MF, Caron MG: Cloning, pharmacological characterization, and genomic localization of the human creatine transporter. Receptors Channels. 1994;2(2):165-74. [PubMed
]
- Sora I, Richman J, Santoro G, Wei H, Wang Y, Vanderah T, Horvath R, Nguyen M, Waite S, Roeske WR, et al.: The cloning and expression of a human creatine transporter. Biochem Biophys Res Commun. 1994 Oct 14;204(1):419-27. [PubMed
]
- Sandoval N, Bauer D, Brenner V, Coy JF, Drescher B, Kioschis P, Korn B, Nyakatura G, Poustka A, Reichwald K, Rosenthal A, Platzer M: The genomic organization of a human creatine transporter (CRTR) gene located in Xq28. Genomics. 1996 Jul 15;35(2):383-5. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. Mol Cell. 2008 Aug 8;31(3):438-48. [PubMed
]
- Hahn KA, Salomons GS, Tackels-Horne D, Wood TC, Taylor HA, Schroer RJ, Lubs HA, Jakobs C, Olson RL, Holden KR, Stevenson RE, Schwartz CE: X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. Am J Hum Genet. 2002 May;70(5):1349-56. Epub 2002 Mar 15. [PubMed
]
- Bizzi A, Bugiani M, Salomons GS, Hunneman DH, Moroni I, Estienne M, Danesi U, Jakobs C, Uziel G: X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. Ann Neurol. 2002 Aug;52(2):227-31. [PubMed
]
- Rosenberg EH, Almeida LS, Kleefstra T, deGrauw RS, Yntema HG, Bahi N, Moraine C, Ropers HH, Fryns JP, deGrauw TJ, Jakobs C, Salomons GS: High prevalence of SLC6A8 deficiency in X-linked mental retardation. Am J Hum Genet. 2004 Jul;75(1):97-105. Epub 2004 May 20. [PubMed
]
|
| Enzyme 51 Metabolite References |
Not Available |
|
Enzyme 52
[top]
|
| Enzyme 52 ID |
8385 |
| Enzyme 52 Name |
Solute carrier family 12 member 2 |
| Enzyme 52 Synonyms |
- Basolateral Na-K-Cl symporter
- Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1
|
| Enzyme 52 Gene Name |
SLC12A2 |
| Enzyme 52 Protein Sequence |
>Solute carrier family 12 member 2
MEPRPTAPSSGAPGLAGVGETPSAAALAAARVELPGTAVPSVPEDAAPASRDGGGVRDEG
PAAAGDGLGRPLGPTPSQSRFQVDLVSENAGRAAAAAAAAAAAAAAAGAGAGAKQTPADG
EASGESEPAKGSEEAKGRFRVNFVDPAASSSAEDSLSDAAGVGVDGPNVSFQNGGDTVLS
EGSSLHSGGGGGSGHHQHYYYDTHTNTYYLRTFGHNTMDAVPRIDHYRHTAAQLGEKLLR
PSLAELHDELEKEPFEDGFANGEESTPTRDAVVTYTAESKGVVKFGWIKGVLVRCMLNIW
GVMLFIRLSWIVGQAGIGLSVLVIMMATVVTTITGLSTSAIATNGFVRGGGAYYLISRSL
GPEFGGAIGLIFAFANAVAVAMYVVGFAETVVELLKEHSILMIDEINDIRIIGAITVVIL
LGISVAGMEWEAKAQIVLLVILLLAIGDFVIGTFIPLESKKPKGFFGYKSEIFNENFGPD
FREEETFFSVFAIFFPAATGILAGANISGDLADPQSAIPKGTLLAILITTLVYVGIAVSV
GSCVVRDATGNVNDTIVTELTNCTSAACKLNFDFSSCESSPCSYGLMNNFQVMSMVSGFT
PLISAGIFSATLSSALASLVSAPKIFQALCKDNIYPAFQMFAKGYGKNNEPLRGYILTFL
IALGFILIAELNVIAPIISNFFLASYALINFSVFHASLAKSPGWRPAFKYYNMWISLLGA
ILCCIVMFVINWWAALLTYVIVLGLYIYVTYKKPDVNWGSSTQALTYLNALQHSIRLSGV
EDHVKNFRPQCLVMTGAPNSRPALLHLVHDFTKNVGLMICGHVHMGPRRQAMKEMSIDQA
KYQRWLIKNKMKAFYAPVHADDLREGAQYLMQAAGLGRMKPNTLVLGFKKDWLQADMRDV
DMYINLFHDAFDIQYGVVVIRLKEGLDISHLQGQEELLSSQEKSPGTKDVVVSVEYSKKS
DLDTSKPLSEKPITHKVEEEDGKTATQPLLKKESKGPIVPLNVADQKLLEASTQFQKKQG
KNTIDVWWLFDDGGLTLLIPYLLTTKKKWKDCKIRVFIGGKINRIDHDRRAMATLLSKFR
IDFSDIMVLGDINTKPKKENIIAFEEIIEPYRLHEDDKEQDIADKMKEDEPWRITDNELE
LYKTKTYRQIRLNELLKEHSSTANIIVMSLPVARKGAVSSALYMAWLEALSKDLPPILLV
RGNHQSVLTFYS
|
| Enzyme 52 Number of Residues |
1212 |
| Enzyme 52 Molecular Weight |
131445.8 |
| Enzyme 52 Theoretical pI |
6.36 |
| Enzyme 52 GO Classification |
| Function |
- anion transmembrane transporter activity
- anion:cation symporter activity
- cation:chloride symporter activity
- ion transmembrane transporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- anion transport
- cation transport
- chloride transport
- establishment of localization
- inorganic anion transport
- ion transport
- monovalent inorganic cation transport
- sodium ion transport
- transmembrane transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 52 General Function |
Involved in transport |
| Enzyme 52 Specific Function |
Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume |
| Enzyme 52 Pathways |
Not Available |
| Enzyme 52 Reactions |
Not Available |
| Enzyme 52 Pfam Domain Function |
|
| Enzyme 52 Signals |
|
| Enzyme 52 Transmembrane Regions |
- 93-113
286-306
310-330
367-387
411-431
436-456
487-507
521-541
592-612
658-678
679-699
725-745
|
| Enzyme 52 Essentiality |
Not Available |
| Enzyme 52 GenBank ID Protein |
Not Available |
| Enzyme 52 UniProtKB/Swiss-Prot ID |
P55011  |
| Enzyme 52 UniProtKB/Swiss-Prot Entry Name |
S12A2_HUMAN  |
| Enzyme 52 PDB ID |
Not Available |
| Enzyme 52 Cellular Location |
Not Available |
| Enzyme 52 Gene Sequence |
>3639 bp
ATGGAGCCGCGGCCCACGGCGCCCTCCTCCGGCGCCCCGGGACTGGCCGGGGTCGGGGAG
ACGCCGTCAGCCGCTGCGCTGGCCGCAGCCAGGGTGGAACTGCCCGGCACGGCTGTGCCC
TCGGTGCCGGAGGATGCTGCGCCCGCGAGCCGGGACGGCGGCGGGGTCCGCGATGAGGGC
CCCGCGGCGGCCGGGGACGGGCTGGGCAGACCCTTGGGGCCCACCCCGAGCCAGAGCCGT
TTCCAGGTGGACCTGGTTTCCGAGAACGCCGGGCGGGCCGCTGCTGCGGCGGCGGCGGCG
GCGGCGGCAGCGGCGGCGGCTGGTGCTGGGGCGGGGGCCAAGCAGACCCCCGCGGACGGG
GAAGCCAGCGGCGAGAGCGAGCCAGCTAAAGGCAGCGAGGAAGCCAAGGGCCGCTTCCGC
GTGAACTTCGTGGACCCAGCTGCCTCCTCGTCGGCTGAAGACAGCCTGTCAGATGCTGCC
GGGGTCGGAGTCGACGGGCCCAACGTGAGCTTCCAGAACGGCGGGGACACGGTGCTGAGC
GAGGGCAGCAGCCTGCACTCCGGCGGCGGCGGCGGCAGTGGGCACCACCAGCACTACTAT
TATGATACCCACACCAACACCTACTACCTGCGCACCTTCGGCCACAACACCATGGACGCT
GTGCCCAGGATCGATCACTACCGGCACACAGCCGCGCAGCTGGGCGAGAAGCTGCTCCGG
CCTAGCCTGGCGGAGCTCCACGACGAGCTGGAAAAGGAACCTTTTGAGGATGGCTTTGCA
AATGGGGAAGAAAGTACTCCAACCAGAGATGCTGTGGTCACGTATACTGCAGAAAGTAAA
GGAGTCGTGAAGTTTGGCTGGATCAAGGGTGTATTAGTACGTTGTATGTTAAACATTTGG
GGTGTGATGCTTTTCATTAGATTGTCATGGATTGTGGGTCAAGCTGGAATAGGTCTATCA
GTCCTTGTAATAATGATGGCCACTGTTGTGACAACTATCACAGGATTGTCTACTTCAGCA
ATAGCAACTAATGGATTTGTAAGAGGAGGAGGAGCATATTATTTAATATCTAGAAGTCTA
GGGCCAGAATTTGGTGGTGCAATTGGTCTAATCTTCGCCTTTGCCAACGCTGTTGCAGTT
GCTATGTATGTGGTTGGATTTGCAGAAACCGTGGTGGAGTTGCTTAAGGAACATTCCATA
CTTATGATAGATGAAATCAATGATATCCGAATTATTGGAGCCATTACAGTCGTGATTCTT
TTAGGTATCTCAGTAGCTGGAATGGAGTGGGAAGCAAAAGCTCAGATTGTTCTTTTGGTG
ATCCTACTTCTTGCTATTGGTGATTTCGTCATAGGAACATTTATCCCACTGGAGAGCAAG
AAGCCAAAAGGGTTTTTTGGTTATAAATCTGAAATATTTAATGAGAACTTTGGGCCCGAT
TTTCGAGAGGAAGAGACTTTCTTTTCTGTATTTGCCATCTTTTTTCCTGCTGCAACTGGT
ATTCTGGCTGGAGCAAATATCTCAGGTGATCTTGCAGATCCTCAGTCAGCCATACCCAAA
GGAACACTCCTAGCCATTTTAATTACTACATTGGTTTACGTAGGAATTGCAGTATCTGTA
GGTTCTTGTGTTGTTCGAGATGCCACTGGAAACGTTAATGACACTATCGTAACAGAGCTA
ACAAACTGTACTTCTGCAGCCTGCAAATTAAACTTTGATTTTTCATCTTGTGAAAGCAGT
CCTTGTTCCTATGGCCTAATGAACAACTTCCAGGTAATGAGTATGGTGTCAGGATTTACA
CCACTAATTTCTGCAGGTATATTTTCAGCCACTCTTTCTTCAGCATTAGCATCCCTAGTG
AGTGCTCCCAAAATATTTCAGGCTCTATGTAAGGACAACATCTACCCAGCTTTCCAGATG
TTTGCTAAAGGTTATGGGAAAAATAATGAACCTCTTCGTGGCTACATCTTAACATTCTTA
ATTGCACTTGGATTCATCTTAATTGCTGAACTGAATGTTATTGCACCAATTATCTCAAAC
TTCTTCCTTGCATCATATGCATTGATCAATTTTTCAGTATTCCATGCATCACTTGCAAAA
TCTCCAGGATGGCGTCCTGCATTCAAATACTACAACATGTGGATATCACTTCTTGGAGCA
ATTCTTTGTTGCATAGTAATGTTCGTCATTAACTGGTGGGCTGCATTGCTAACATATGTG
ATAGTCCTTGGGCTGTATATTTATGTTACCTACAAAAAACCAGATGTGAATTGGGGATCC
TCTACACAAGCCCTGACTTACCTGAATGCACTGCAGCATTCAATTCGTCTTTCTGGAGTG
GAAGACCACGTGAAAAACTTTAGGCCACAGTGTCTTGTTATGACAGGTGCTCCAAACTCA
CGTCCAGCTTTACTTCATCTTGTTCATGATTTCACAAAAAATGTTGGTTTGATGATCTGT
GGCCATGTACATATGGGTCCTCGAAGACAAGCCATGAAAGAGATGTCCATCGATCAAGCC
AAATATCAGCGATGGCTTATTAAGAACAAAATGAAGGCATTTTATGCTCCAGTACATGCA
GATGACTTGAGAGAAGGTGCACAGTATTTGATGCAGGCTGCTGGTCTTGGTCGTATGAAG
CCAAACACACTTGTCCTTGGATTTAAGAAAGATTGGTTGCAAGCAGATATGAGGGATGTG
GATATGTATATAAACTTATTTCATGATGCTTTTGACATACAATATGGAGTAGTGGTTATT
CGCCTAAAAGAAGGTCTGGATATATCTCATCTTCAAGGACAAGAAGAATTATTGTCATCA
CAAGAGAAATCTCCTGGCACCAAGGATGTGGTAGTAAGTGTGGAATATAGTAAAAAGTCC
GATTTAGATACTTCCAAACCACTCAGTGAAAAACCAATTACACACAAAGTTGAGGAAGAG
GATGGCAAGACTGCAACTCAACCACTGTTGAAAAAAGAATCCAAAGGCCCTATTGTGCCT
TTAAATGTAGCTGACCAAAAGCTTCTTGAAGCTAGTACACAGTTTCAGAAAAAACAAGGA
AAGAATACTATTGATGTCTGGTGGCTTTTTGATGATGGAGGTTTGACCTTATTGATACCT
TACCTTCTGACGACCAAGAAAAAATGGAAAGACTGTAAGATCAGAGTATTCATTGGTGGA
AAGATAAACAGAATAGACCATGACCGGAGAGCGATGGCTACTTTGCTTAGCAAGTTCCGG
ATAGACTTTTCTGATATCATGGTTCTAGGAGATATCAATACCAAACCAAAGAAAGAAAAT
ATTATAGCTTTTGAGGAAATCATTGAGCCATACAGACTTCATGAAGATGATAAAGAGCAA
GATATTGCAGATAAAATGAAAGAAGATGAACCATGGCGAATAACAGATAATGAGCTTGAA
CTTTATAAGACCAAGACATACCGGCAGATCAGGTTAAATGAGTTATTAAAGGAACATTCA
AGCACAGCTAATATTATTGTCATGAGTCTCCCAGTTGCACGAAAAGGTGCTGTGTCTAGT
GCTCTCTACATGGCATGGTTAGAAGCTCTATCTAAGGACCTACCACCAATCCTCCTAGTT
CGTGGGAATCATCAGAGTGTCCTTACCTTCTATTCATAA
|
| Enzyme 52 GenBank Gene ID |
U30246  |
| Enzyme 52 GeneCard ID |
SLC12A2  |
| Enzyme 52 GenAtlas ID |
SLC12A2  |
| Enzyme 52 HGNC ID |
HGNC:10911  |
| Enzyme 52 Chromosome Location |
5 |
| Enzyme 52 Locus |
5q23.3 |
| Enzyme 52 SNPs |
SNPJam Report  |
| Enzyme 52 General References |
- Payne JA, Xu JC, Haas M, Lytle CY, Ward D, Forbush B 3rd: Primary structure, functional expression, and chromosomal localization of the bumetanide-sensitive Na-K-Cl cotransporter in human colon. J Biol Chem. 1995 Jul 28;270(30):17977-85. [PubMed
]
- Vibat CR, Holland MJ, Kang JJ, Putney LK, O'Donnell ME: Quantitation of Na+-K+-2Cl- cotransport splice variants in human tissues using kinetic polymerase chain reaction. Anal Biochem. 2001 Nov 15;298(2):218-30. [PubMed
]
- Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. Science. 2007 May 25;316(5828):1160-6. [PubMed
]
- Cantin GT, Yi W, Lu B, Park SK, Xu T, Lee JD, Yates JR 3rd: Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis. J Proteome Res. 2008 Mar;7(3):1346-51. Epub 2008 Jan 26. [PubMed
]
- Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. Epub 2008 Jul 31. [PubMed
]
|
| Enzyme 52 Metabolite References |
Not Available |
|
Enzyme 53
[top]
|
| Enzyme 53 ID |
8394 |
| Enzyme 53 Name |
Sodium- and chloride-dependent taurine transporter |
| Enzyme 53 Synonyms |
- Solute carrier family 6 member 6
|
| Enzyme 53 Gene Name |
SLC6A6 |
| Enzyme 53 Protein Sequence |
>Sodium- and chloride-dependent taurine transporter
MATKEKLQCLKDFHKDILKPSPGKSPGTRPEDEAEGKPPQREKWSSKIDFVLSVAGGFVG
LGNVWRFPYLCYKNGGGAFLIPYFIFLFGSGLPVFFLEIIIGQYTSEGGITCWEKICPLF
SGIGYASVVIVSLLNVYYIVILAWATYYLFQSFQKELPWAHCNHSWNTPHCMEDTMRKNK
SVWITISSTNFTSPVIEFWERNVLSLSPGIDHPGSLKWDLALCLLLVWLVCFFCIWKGVR
STGKVVYFTATFPFAMLLVLLVRGLTLPGAGAGIKFYLYPDITRLEDPQVWIDAGTQIFF
SYAICLGAMTSLGSYNKYKYNSYRDCMLLGCLNSGTSFVSGFAIFSILGFMAQEQGVDIA
DVAESGPGLAFIAYPKAVTMMPLPTFWSILFFIMLLLLGLDSQFVEVEGQITSLVDLYPS
FLRKGYRREIFIAFVCSISYLLGLTMVTEGGMYVFQLFDYYAASGVCLLWVAFFECFVIA
WIYGGDNLYDGIEDMIGYRPGPWMKYSWAVITPVLCVGCFIFSLVKYVPLTYNKTYVYPN
WAIGLGWSLALSSMLCVPLVIVIRLCQTEGPFLVRVKYLLTPREPNRWAVEREGATPYNS
RTVMNGALVKPTHIIVETMM
|
| Enzyme 53 Number of Residues |
620 |
| Enzyme 53 Molecular Weight |
69829.4 |
| Enzyme 53 Theoretical pI |
7.43 |
| Enzyme 53 GO Classification |
| Function |
- neurotransmitter transporter activity
- neurotransmitter:sodium symporter activity
- taurine:sodium symporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- neurotransmitter transport
- transport
|
| Component |
- cell part
- integral to membrane
- integral to plasma membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 53 General Function |
Involved in neurotransmitter:sodium symporter activity |
| Enzyme 53 Specific Function |
Required for the uptake of taurine. Transports both taurine and beta-alanine which requires sodium ions. Chloride ions are necessary for optimal uptake |
| Enzyme 53 Pathways |
Not Available |
| Enzyme 53 Reactions |
Not Available |
| Enzyme 53 Pfam Domain Function |
|
| Enzyme 53 Signals |
|
| Enzyme 53 Transmembrane Regions |
- 50-70
78-97
122-142
218-236
245-262
298-315
327-348
381-400
430-448
465-485
506-525
545-563
|
| Enzyme 53 Essentiality |
Not Available |
| Enzyme 53 GenBank ID Protein |
197276623  |
| Enzyme 53 UniProtKB/Swiss-Prot ID |
P31641  |
| Enzyme 53 UniProtKB/Swiss-Prot Entry Name |
SC6A6_HUMAN  |
| Enzyme 53 PDB ID |
Not Available |
| Enzyme 53 Cellular Location |
Not Available |
| Enzyme 53 Gene Sequence |
>1863 bp
ATGGCCACCAAGGAGAAGCTGCAGTGTCTGAAAGATTTCCACAAGGACATCCTGAAGCCC
TCACCAGGGAAGAGCCCAGGCACGCGGCCTGAGGACGAGGCTGAGGGAAAACCTCCGCAG
AGGGAGAAGTGGTCTAGCAAGATCGACTTTGTGCTCTCTGTGGCTGGCGGCTTCGTGGGC
TTGGGCAACGTCTGGCGCTTCCCGTACCTCTGCTACAAGAATGGTGGAGGTGCGTTTCTC
ATACCGTATTTTATTTTCCTGTTTGGGAGCGGCCTGCCTGTGTTTTTCTTGGAGATCATC
ATAGGCCAGTACACCTCTGAAGGGGGCATCACCTGCTGGGAAAAGATCTGCCCCTTGTTC
TCTGGTATCGGCTATGCCTCCGTTGTAATTGTGTCCCTCCTGAATGTCTACTACATCGTC
ATCCTGGCCTGGGCCACATACTACCTGTTCCAGTCCTTCCAGAAGGAGCTGCCCTGGGCA
CACTGCAACCACAGCTGGAACACACCTCACTGCATGGAGGACACCATGCGCAAGAACAAG
AGTGTCTGGATCACCATCAGCTCCACCAACTTCACCTCCCCTGTCATCGAGTTCTGGGAG
CGCAACGTGCTGAGCTTGTCCCCTGGAATCGACCACCCAGGCTCTCTGAAATGGGACCTC
GCTCTCTGCCTTCTTTTAGTCTGGCTAGTGTGTTTCTTCTGCATCTGGAAGGGCGTCAGG
TCCACTGGGAAGGTCGTCTACTTCACAGCCACTTTTCCATTCGCCATGCTCCTGGTGCTG
CTGGTCCGAGGGCTGACGCTGCCGGGCGCGGGCGCAGGCATCAAGTTCTATCTGTATCCT
GACATCACCCGCCTTGAGGACCCACAGGTGTGGATTGACGCTGGGACTCAGATATTCTTC
TCTTATGCCATCTGCCTGGGGGCTATGACCTCGCTGGGGAGCTACAACAAGTACAAGTAT
AACTCGTACAGGGACTGTATGCTGCTGGGATGCCTGAACAGTGGTACCAGTTTTGTGTCT
GGCTTCGCAATTTTTTCCATCCTGGGCTTCATGGCACAAGAGCAAGGGGTGGACATTGCT
GATGTGGCTGAGTCAGGTCCTGGCCTGGCCTTCATTGCCTACCCAAAAGCTGTGACAATG
ATGCCGCTGCCCACATTTTGGTCCATTCTTTTTTTTATTATGCTTCTCTTGCTTGGACTG
GATAGCCAGTTTGTTGAAGTTGAAGGACAGATCACATCCTTGGTTGATCTTTACCCATCC
TTCCTAAGGAAGGGTTATCGTCGGGAAATCTTCATCGCCTTCGTGTGTAGCATCAGCTAC
CTGCTGGGGCTGACGATGGTGACGGAGGGTGGCATGTATGTGTTTCAGCTCTTTGACTAC
TATGCAGCTAGCGGTGTATGCCTTTTGTGGGTTGCATTCTTTGAATGTTTTGTTATTGCC
TGGATATATGGAGGTGATAACCTTTATGATGGTATTGAGGACATGATTGGCTATCGGCCC
GGGCCCTGGATGAAGTACAGCTGGGCTGTGATCACTCCAGTTCTCTGTGTTGGATGTTTC
ATCTTCTCGCTCGTCAAGTACGTACCCCTGACCTACAACAAAACATACGTGTACCCCAAC
TGGGCCATTGGGCTGGGCTGGAGCCTGGCCCTTTCCTCCATGCTCTGCGTTCCCTTGGTC
ATCGTCATCCGCCTCTGCCAGACTGAGGGGCCGTTCCTTGTGAGAGTCAAGTACCTGCTG
ACCCCAAGGGAACCCAACCGCTGGGCTGTGGAGCGCGAGGGAGCCACACCTTACAACTCT
CGCACCGTCATGAACGGCGCTCTCGTGAAACCGACCCACATCATTGTGGAGACCATGATG
TGA
|
| Enzyme 53 GenBank Gene ID |
NM_001134367.1  |
| Enzyme 53 GeneCard ID |
SLC6A6  |
| Enzyme 53 GenAtlas ID |
SLC6A6  |
| Enzyme 53 HGNC ID |
HGNC:11052  |
| Enzyme 53 Chromosome Location |
3 |
| Enzyme 53 Locus |
3p25-p24 |
| Enzyme 53 SNPs |
SNPJam Report  |
| Enzyme 53 General References |
- Jhiang SM, Fithian L, Smanik P, McGill J, Tong Q, Mazzaferri EL: Cloning of the human taurine transporter and characterization of taurine uptake in thyroid cells. FEBS Lett. 1993 Mar 1;318(2):139-44. [PubMed
]
- Ramamoorthy S, Leibach FH, Mahesh VB, Han H, Yang-Feng T, Blakely RD, Ganapathy V: Functional characterization and chromosomal localization of a cloned taurine transporter from human placenta. Biochem J. 1994 Jun 15;300 ( Pt 3):893-900. [PubMed
]
- Miyamoto Y, Liou GI, Sprinkle TJ: Isolation of a cDNA encoding a taurine transporter in the human retinal pigment epithelium. Curr Eye Res. 1996 Mar;15(3):345-9. [PubMed
]
- Wollscheid B, Bausch-Fluck D, Henderson C, O'Brien R, Bibel M, Schiess R, Aebersold R, Watts JD: Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins. Nat Biotechnol. 2009 Apr;27(4):378-86. Epub 2009 Apr 6. [PubMed
]
|
| Enzyme 53 Metabolite References |
Not Available |
|
Enzyme 54
[top]
|
| Enzyme 54 ID |
8410 |
| Enzyme 54 Name |
Sodium/glucose cotransporter 1 |
| Enzyme 54 Synonyms |
- Na(+)/glucose cotransporter 1
- High affinity sodium-glucose cotransporter
- Solute carrier family 5 member 1
|
| Enzyme 54 Gene Name |
SLC5A1 |
| Enzyme 54 Protein Sequence |
>Sodium/glucose cotransporter 1
MDSSTWSPKTTAVTRPVETHELIRNAADISIIVIYFVVVMAVGLWAMFSTNRGTVGGFFL
AGRSMVWWPIGASLFASNIGSGHFVGLAGTGAASGIAIGGFEWNALVLVVVLGWLFVPIY
IKAGVVTMPEYLRKRFGGQRIQVYLSLLSLLLYIFTKISADIFSGAIFINLALGLNLYLA
IFLLLAITALYTITGGLAAVIYTDTLQTVIMLVGSLILTGFAFHEVGGYDAFMEKYMKAI
PTIVSDGNTTFQEKCYTPRADSFHIFRDPLTGDLPWPGFIFGMSILTLWYWCTDQVIVQR
CLSAKNMSHVKGGCILCGYLKLMPMFIMVMPGMISRILYTEKIACVVPSECEKYCGTKVG
CTNIAYPTLVVELMPNGLRGLMLSVMLASLMSSLTSIFNSASTLFTMDIYAKVRKRASEK
ELMIAGRLFILVLIGISIAWVPIVQSAQSGQLFDYIQSITSYLGPPIAAVFLLAIFWKRV
NEPGAFWGLILGLLIGISRMITEFAYGTGSCMEPSNCPTIICGVHYLYFAIILFAISFIT
IVVISLLTKPIPDVHLYRLCWSLRNSKEERIDLDAEEENIQEGPKETIEIETQVPEKKKG
IFRRAYDLFCGLEQHGAPKMTEEEEKAMKMKMTDTSEKPLWRTVLNVNGIILVTVAVFCH
AYFA
|
| Enzyme 54 Number of Residues |
664 |
| Enzyme 54 Molecular Weight |
73497.3 |
| Enzyme 54 Theoretical pI |
7.74 |
| Enzyme 54 GO Classification |
| Function |
|
| Process |
- establishment of localization
- transmembrane transport
- transport
|
| Component |
|
|
| Enzyme 54 General Function |
Involved in transporter activity |
| Enzyme 54 Specific Function |
Actively transports glucose into cells by Na(+) cotransport with a Na(+) to glucose coupling ratio of 2:1. Efficient substrate transport in mammalian kidney is provided by the concerted action of a low affinity high capacity and a high affinity low capacity Na(+)/glucose cotransporter arranged in series along kidney proximal tubules |
| Enzyme 54 Pathways |
Not Available |
| Enzyme 54 Reactions |
Not Available |
| Enzyme 54 Pfam Domain Function |
|
| Enzyme 54 Signals |
|
| Enzyme 54 Transmembrane Regions |
- 29-49
65-85
106-126
143-163
179-201
209-229
278-298
314-334
381-401
424-444
456-476
485-505
527-547
644-664
|
| Enzyme 54 Essentiality |
Not Available |
| Enzyme 54 GenBank ID Protein |
189066539  |
| Enzyme 54 UniProtKB/Swiss-Prot ID |
P13866  |
| Enzyme 54 UniProtKB/Swiss-Prot Entry Name |
SC5A1_HUMAN  |
| Enzyme 54 PDB ID |
Not Available |
| Enzyme 54 Cellular Location |
Not Available |
| Enzyme 54 Gene Sequence |
>1995 bp
ATGGACAGTAGCACCTGGAGCCCCAAGACCACCGCGGTCACCCGGCCTGTTGAGACCCAC
GAGCTCATTCGCAATGCAGCCGATATCTCCATCATCGTTATCTACTTCGTGGTAGTGATG
GCCGTCGGACTGTGGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTG
GCAGGCCGAAGTATGGTGTGGTGGCCGATTGGAGCCTCCCTCTTTGCTAGTAACATTGGA
AGTGGCCACTTTGTGGGGCTGGCCGGGACTGGGGCAGCTTCAGGCATCGCCATTGGAGGC
TTTGAATGGAATGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTGTTTGTCCCCATCTAT
ATTAAGGCTGGGGTGGTGACAATGCCAGAGTACCTGAGGAAGCGGTTTGGAGGCCAGCGG
ATCCAGGTCTACCTTTCCCTTCTGTCCCTGCTGCTCTACATTTTCACCAAGATCTCGGCA
GACATCTTCTCGGGGGCCATATTCATCAATCTGGCCTTAGGCCTGAATCTGTATTTAGCC
ATCTTTCTCTTATTGGCAATCACTGCCCTTTACACAATTACAGGGGGCCTGGCGGCGGTG
ATTTACACGGACACCTTGCAGACGGTGATCATGCTGGTGGGGTCTTTAATCCTGACTGGG
TTTGCTTTTCACGAAGTGGGAGGCTATGACGCCTTCATGGAAAAGTACATGAAAGCCATT
CCAACCATAGTGTCTGATGGCAACACCACCTTTCAGGAAAAATGCTACACTCCAAGGGCC
GACTCCTTCCACATCTTCCGAGATCCCCTCACGGGAGACCTCCCATGGCCTGGGTTCATC
TTTGGGATGTCCATCCTTACCTTGTGGTACTGGTGCACAGATCAGGTCATTGTGCAGCGC
TGCCTCTCAGCCAAGAATATGTCTCACGTGAAGGGTGGCTGCATCCTGTGTGGGTATCTA
AAGCTGATGCCCATGTTCATCATGGTGATGCCAGGAATGATCAGCCGCATTCTGTACACA
GAAAAAATTGCCTGTGTCGTCCCTTCAGAATGTGAGAAATATTGCGGTACCAAGGTTGGC
TGTACCAACATCGCCTATCCAACCTTAGTGGTGGAGCTCATGCCCAATGGACTGCGAGGC
CTGATGCTATCAGTCATGCTGGCCTCCCTCATGAGCTCCCTGACCTCCATCTTCAACAGC
GCCAGCACCCTCTTCACCATGGACATCTACGCCAAGGTCCGCAAGAGAGCATCTGAGAAA
GAGCTCATGATTGCCGGAAGGTTGTTTATCCTGGTGCTGATTGGCATCAGCATCGCCTGG
GTGCCCATTGTGCAGTCAGCACAAAGTGGGCAACTCTTCGATTACATCCAGTCCATCACC
AGTTACTTGGGACCACCCATTGCGGCTGTCTTCCTGCTTGCTATTTTCTGGAAGAGAGTC
AATGAGCCAGGAGCCTTTTGGGGACTGATCCTAGGACTTCTGATTGGGATTTCACGTATG
ATTACTGAGTTTGCTTATGGAACCGGGAGCTGCATGGAGCCCAGCAACTGTCCCACGATT
ATCTGTGGGGTGCACTACTTGTACTTTGCCATTATCCTCTTCGCCATTTCTTTCATCACC
ATCGTGGTCATCTCCCTCCTCACCAAACCCATTCCGGATGTGCATCTCTACCGTCTGTGT
TGGAGCCTGCGCAACAGCAAAGAGGAGCGTATTGACCTGGATGCGGAAGAGGAGAACATC
CAAGAAGGCCCTAAGGAGACCATTGAAATAGAAACACAAGTTCCTGAGAAGAAAAAAGGA
ATCTTCAGGAGAGCCTATGACCTATTTTGTGGGCTAGAGCAGCACGGTGCACCCAAGATG
ACTGAGGAAGAGGAGAAAGCCATGAAGATGAAGATGACGGACACCTCTGAGAAGCCTTTG
TGGAGGACAGTGTTGAACGTCAATGGCATCATCCTGGTGACCGTGGCTGTCTTTTGCCAT
GCATATTTTGCCTGA
|
| Enzyme 54 GenBank Gene ID |
AK312948  |
| Enzyme 54 GeneCard ID |
SLC5A1  |
| Enzyme 54 GenAtlas ID |
SLC5A1  |
| Enzyme 54 HGNC ID |
HGNC:11036  |
| Enzyme 54 Chromosome Location |
2 |
| Enzyme 54 Locus |
22q13.1|22q12.3 |
| Enzyme 54 SNPs |
SNPJam Report  |
| Enzyme 54 General References |
- Hediger MA, Turk E, Wright EM: Homology of the human intestinal Na+/glucose and Escherichia coli Na+/proline cotransporters. Proc Natl Acad Sci U S A. 1989 Aug;86(15):5748-52. [PubMed
]
- Turk E, Martin MG, Wright EM: Structure of the human Na+/glucose cotransporter gene SGLT1. J Biol Chem. 1994 May 27;269(21):15204-9. [PubMed
]
- Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG, Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM, Dunham I: A genome annotation-driven approach to cloning the human ORFeome. Genome Biol. 2004;5(10):R84. Epub 2004 Sep 30. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP, et al.: The DNA sequence of human chromosome 22. Nature. 1999 Dec 2;402(6761):489-95. [PubMed
]
- Turk E, Kerner CJ, Lostao MP, Wright EM: Membrane topology of the human Na+/glucose cotransporter SGLT1. J Biol Chem. 1996 Jan 26;271(4):1925-34. [PubMed
]
- Turk E, Zabel B, Mundlos S, Dyer J, Wright EM: Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter. Nature. 1991 Mar 28;350(6316):354-6. [PubMed
]
- Lam JT, Martin MG, Turk E, Hirayama BA, Bosshard NU, Steinmann B, Wright EM: Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects. Biochim Biophys Acta. 1999 Feb 24;1453(2):297-303. [PubMed
]
- Kasahara M, Maeda M, Hayashi S, Mori Y, Abe T: A missense mutation in the Na(+)/glucose cotransporter gene SGLT1 in a patient with congenital glucose-galactose malabsorption: normal trafficking but inactivation of the mutant protein. Biochim Biophys Acta. 2001 May 31;1536(2-3):141-7. [PubMed
]
|
| Enzyme 54 Metabolite References |
Not Available |
|
Enzyme 55
[top]
|
| Enzyme 55 ID |
8440 |
| Enzyme 55 Name |
Amiloride-sensitive sodium channel subunit gamma |
| Enzyme 55 Synonyms |
- Epithelial Na(+) channel subunit gamma
- ENaCG
- Gamma-ENaC
- Gamma-NaCH
- Nonvoltage-gated sodium channel 1 subunit gamma
- SCNEG
|
| Enzyme 55 Gene Name |
SCNN1G |
| Enzyme 55 Protein Sequence |
>Amiloride-sensitive sodium channel subunit gamma
MAPGEKIKAKIKKNLPVTGPQAPTIKELMRWYCLNTNTHGCRRIVVSRGRLRRLLWIGFT
LTAVALILWQCALLVFSFYTVSVSIKVHFRKLDFPAVTICNINPYKYSTVRHLLADLEQE
TREALKSLYGFPESRKRREAESWNSVSEGKQPRFSHRIPLLIFDQDEKGKARDFFTGRKR
KVGGSIIHKASNVMHIESKQVVGFQLCSNDTSDCATYTFSSGINAIQEWYKLHYMNIMAQ
VPLEKKINMSYSAEELLVTCFFDGVSCDARNFTLFHHPMHGNCYTFNNRENETILSTSMG
GSEYGLQVILYINEEEYNPFLVSSTGAKVIIHRQDEYPFVEDVGTEIETAMVTSIGMHLT
ESFKLSEPYSQCTEDGSDVPIRNIYNAAYSLQICLHSCFQTKMVEKCGCAQYSQPLPPAA
NYCNYQQHPNWMYCYYQLHRAFVQEELGCQSVCKEACSFKEWTLTTSLAQWPSVVSEKWL
LPVLTWDQGRQVNKKLNKTDLAKLLIFYKDLNQRSIMESPANSIEMLLSNFGGQLGLWMS
CSVVCVIEIIEVFFIDFFSIIARRQWQKAKEWWAWKQAPPCPEAPRSPQGQDNPALDIDD
DLPTFNSALHLPPALGTQVPGTPPPKYNTLRLERAFSNQLTDTQMLDEL
|
| Enzyme 55 Number of Residues |
649 |
| Enzyme 55 Molecular Weight |
74269.6 |
| Enzyme 55 Theoretical pI |
7.54 |
| Enzyme 55 GO Classification |
| Function |
- amiloride-sensitive sodium channel activity
- cation channel activity
- ion channel activity
- ion transmembrane transporter activity
- sodium channel activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- cation transport
- establishment of localization
- ion transport
- monovalent inorganic cation transport
- sodium ion transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 55 General Function |
Involved in ligand-gated sodium channel activity |
| Enzyme 55 Specific Function |
Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception |
| Enzyme 55 Pathways |
Not Available |
| Enzyme 55 Reactions |
Not Available |
| Enzyme 55 Pfam Domain Function |
|
| Enzyme 55 Signals |
|
| Enzyme 55 Transmembrane Regions |
|
| Enzyme 55 Essentiality |
Not Available |
| Enzyme 55 GenBank ID Protein |
1004273  |
| Enzyme 55 UniProtKB/Swiss-Prot ID |
P51170  |
| Enzyme 55 UniProtKB/Swiss-Prot Entry Name |
SCNNG_HUMAN  |
| Enzyme 55 PDB ID |
Not Available |
| Enzyme 55 Cellular Location |
Not Available |
| Enzyme 55 Gene Sequence |
>1950 bp
ATGGCCCCCGGGGAGAAGATCAAAGCCAAAATCAAGAAGAATCTGCCCGTGACGGGCCCT
CAGGCGCCGACCATTAAAGAGCTGATGCGGTGGTACTGCCTCAACACCAACACCCATGGC
TGTCGCCGCATCGTGGTGTCCCGCGGCCGTCTGCGCCGCCTCCTCTGGATCGGGTTCACA
CTGACTGCCGTGGCCCTCATCCTCTGGCAGTGCGCCCTCCTCGTCTTCTCCTTCTATACT
GTCTCAGTTTCCATCAAAGTCCACTTCCGGAAGCTGGATTTTCCTGCAGTCACCATCTGC
AACATCAACCCCTACAAGTACAGCACCGTTCGCCACCTTCTAGCTGACTTGGAACAGGAG
ACCAGAGAGGCCCTGAAGTCCCTGTATGGCTTTCCAGAGTCCCGGAAGCGCCGAGAGGCG
GAGTCCTGGAACTCCGTCTCAGAGGGAAAGCAGCCTAGATTCTCCCACCGGATTCCGCTG
CTGATCTTTGATCAGGATGAGAAGGGCAAGGCCAGGGACTTCTTCACAGGGAGGAAGCGG
AAAGTCGGCGGTAGCATCATTCACAAGGCTTCAAATGTCATGCACATCGAGTCCAAGCAA
GTGGTGGGATTCCAACTGTGCTCAAATGACACCTCCGACTGTGCCACCTACACCTTCAGC
TCGGGAATCAATGCCATTCAGGAGTGGTATAAGCTACACTACATGAACATCATGGCACAG
GTGCCTCTGGAGAAGAAAATCAACATGAGCTATTCTGCTGAGGAGCTGCTGGTGACCTGC
TTCTTTGATGGAGTGTCCTGTGATGCCAGGAATTTCACGCTTTTCCACCACCCGATGCAT
GGGAATTGCTATACTTTCAACAACAGAGAAAATGAGACCATTCTCAGCACCTCCATGGGG
GGCAGCGAATATGGGCTGCAAGTCATTTTGTACATAAACGAAGAGGAATACAACCCATTC
CTCGTGTCCTCCACTGGAGCTAAGGTGATCATCCATCGGCAGGATGAGTATCCCTCCGTC
GAAGATGTGGGAACAGAGATTGAGACAACAATGGTCACCTCTATAGGAATGCACCTGACA
GAGTCCTTCAAGCTGAGTGAGCCCTCCAGTCAGTGCACGGAGGGCGGGAGTGACGTGCCA
ATCAGGAACATCTACAACGCTGCCTACTCGCTCCAGATCTGCCTTCATTCATGCTTCCAG
ACAAAGATGGTGGAGAAATGTGGGTGTGCCCAGTACAGCCAGCCTCTACCTCCTGCAGCC
AACTACTGCAACTACCAGCAGCACCCCAACTGGATGTATTGTTACTACCAACTGCATCGA
GCCTTTGTCCAGGAAGAGCTGGGCTGCCAGTCTGTGTGCAAGGAAGCCTGCCGCTTTAAA
GAGTGGACACTAACCACAAGCCTGGCACAATGGCCATCTGTGGTTTCGGAGAAGTGGTTG
CTGCCTGTTCTCACTTGGGACCAAGGCCGGCAAGTAAACAAAAAGCTCAACAAGACAGAC
TTGGCCAAACTCTTGATATTCTACAAAGACCTGAACCAGAGATCCATCATGGAGAGCCCA
GCCAACAGTATTGAGATGCTTCTGTCCAACTTCGGCGGTCAGCTGGGCCTGTGGATGAGC
TGCTCTGTTGTCTGCGTCATCGAGATCATCGAGGTCTTCTTCATTGACTTCTTCTCTATC
ATTGCCCGCCGCCAGTGGCAGAAAGCCAAGGAGTGGTGGGCCTGGAAACAGGCTCCCCCA
TGTCCAGAAGCTCCCCGTAGCCCACAGGGCCAGGACAATCCAGCCCTGGATATAGACGAT
GACCTACCCACTTTCAACTCTGCTTTGCACCTGCCTCCAGCCCTAGGAACCCAAGTGCCC
GGCACACCGCCCCCCAAATACAATACCTTGCGCTTGGAGAGGGCCTTTTCCAACCAGCTC
ACAGATACCCAGATGCTGGATGAGCTCTGA
|
| Enzyme 55 GenBank Gene ID |
X87160  |
| Enzyme 55 GeneCard ID |
SCNN1G  |
| Enzyme 55 GenAtlas ID |
SCNN1G  |
| Enzyme 55 HGNC ID |
HGNC:10602  |
| Enzyme 55 Chromosome Location |
1 |
| Enzyme 55 Locus |
16p12 |
| Enzyme 55 SNPs |
SNPJam Report  |
| Enzyme 55 General References |
- Voilley N, Bassilana F, Mignon C, Merscher S, Mattei MG, Carle GF, Lazdunski M, Barbry P: Cloning, chromosomal localization, and physical linkage of the beta and gamma subunits (SCNN1B and SCNN1G) of the human epithelial amiloride-sensitive sodium channel. Genomics. 1995 Aug 10;28(3):560-5. [PubMed
]
- McDonald FJ, Price MP, Snyder PM, Welsh MJ: Cloning and expression of the beta- and gamma-subunits of the human epithelial sodium channel. Am J Physiol. 1995 May;268(5 Pt 1):C1157-63. [PubMed
]
- Saxena A, Hanukoglu I, Saxena D, Thompson RJ, Gardiner RM, Hanukoglu A: Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel alpha-, beta-, and gamma-subunit genes. J Clin Endocrinol Metab. 2002 Jul;87(7):3344-50. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Thomas CP, Doggett NA, Fisher R, Stokes JB: Genomic organization and the 5' flanking region of the gamma subunit of the human amiloride-sensitive epithelial sodium channel. J Biol Chem. 1996 Oct 18;271(42):26062-6. [PubMed
]
- Hansson JH, Nelson-Williams C, Suzuki H, Schild L, Shimkets R, Lu Y, Canessa C, Iwasaki T, Rossier B, Lifton RP: Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. Nat Genet. 1995 Sep;11(1):76-82. [PubMed
]
- Pirozzi G, McConnell SJ, Uveges AJ, Carter JM, Sparks AB, Kay BK, Fowlkes DM: Identification of novel human WW domain-containing proteins by cloning of ligand targets. J Biol Chem. 1997 Jun 6;272(23):14611-6. [PubMed
]
- Harvey KF, Dinudom A, Cook DI, Kumar S: The Nedd4-like protein KIAA0439 is a potential regulator of the epithelial sodium channel. J Biol Chem. 2001 Mar 16;276(11):8597-601. Epub 2001 Jan 17. [PubMed
]
- McDonald FJ, Western AH, McNeil JD, Thomas BC, Olson DR, Snyder PM: Ubiquitin-protein ligase WWP2 binds to and downregulates the epithelial Na(+) channel. Am J Physiol Renal Physiol. 2002 Sep;283(3):F431-6. [PubMed
]
- Mutesa L, Azad AK, Verhaeghe C, Segers K, Vanbellinghen JF, Ngendahayo L, Rusingiza EK, Mutwa PR, Rulisa S, Koulischer L, Cassiman JJ, Cuppens H, Bours V: Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants. Chest. 2009 May;135(5):1233-42. Epub 2008 Nov 18. [PubMed
]
- Arai K, Zachman K, Shibasaki T, Chrousos GP: Polymorphisms of amiloride-sensitive sodium channel subunits in five sporadic cases of pseudohypoaldosteronism: do they have pathologic potential? J Clin Endocrinol Metab. 1999 Jul;84(7):2434-7. [PubMed
]
- Halushka MK, Fan JB, Bentley K, Hsie L, Shen N, Weder A, Cooper R, Lipshutz R, Chakravarti A: Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nat Genet. 1999 Jul;22(3):239-47. [PubMed
]
- Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE: The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314(5797):268-74. Epub 2006 Sep 7. [PubMed
]
- Fajac I, Viel M, Sublemontier S, Hubert D, Bienvenu T: Could a defective epithelial sodium channel lead to bronchiectasis. Respir Res. 2008 May 28;9:46. [PubMed
]
|
| Enzyme 55 Metabolite References |
Not Available |
|
Enzyme 56
[top]
|
| Enzyme 56 ID |
8461 |
| Enzyme 56 Name |
Steroidogenic factor 1 |
| Enzyme 56 Synonyms |
- SF-1
- STF-1
- Adrenal 4-binding protein
- Fushi tarazu factor homolog 1
- Nuclear receptor subfamily 5 group A member 1
- Steroid hormone receptor Ad4BP
|
| Enzyme 56 Gene Name |
NR5A1 |
| Enzyme 56 Protein Sequence |
>Steroidogenic factor 1
MDYSYDEDLDELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKHYTCTESQSCKIDKT
QRKRCPFCRFQKCLTVGMRLEAVRADRMRGGRNKFGPMYKRDRALKQQKKAQIRANGFKL
ETGPPMGVPPPPPPAPDYVLPPSLHGPEPKGLAAGPPAGPLGDFGAPALPMAVPGAHGPL
AGYLYPAFPGRAIKSEYPEPYASPPQPGLPYGYPEPFSGGPNVPELILQLLQLEPDEDQV
RARILGCLQEPTKSRPDQPAAFGLLCRMADQTFISIVDWARRCMVFKELEVADQMTLLQN
CWSELLVFDHIYRQVQHGKEGSILLVTGQEVELTTVATQAGSLLHSLVLRAQELVLQLLA
LQLDRQEFVCLKFIILFSLDLKFLNNHILVKDAQEKANAALLDYTLCHYPHCGDKFQQLL
LCLVEVRALSMQAKEYLYHKHLGNEMPRNNLLIEMLQAKQT
|
| Enzyme 56 Number of Residues |
461 |
| Enzyme 56 Molecular Weight |
51635.5 |
| Enzyme 56 Theoretical pI |
7.73 |
| Enzyme 56 GO Classification |
| Function |
- DNA binding
- binding
- cation binding
- ion binding
- ligand-dependent nuclear receptor activity
- metal ion binding
- molecular transducer activity
- nucleic acid binding
- receptor activity
- sequence-specific DNA binding
- sequence-specific DNA binding transcription factor activity
- signal transducer activity
- steroid hormone receptor activity
- transition metal ion binding
- zinc ion binding
|
| Process |
- biological regulation
- regulation of biological process
- regulation of gene expression
- regulation of macromolecule metabolic process
- regulation of metabolic process
- regulation of transcription
- regulation of transcription, DNA-dependent
|
| Component |
- intracellular membrane-bounded organelle
- membrane-bounded organelle
- nucleus
- organelle
|
|
| Enzyme 56 General Function |
Involved in sequence-specific DNA binding transcription factor activity |
| Enzyme 56 Specific Function |
Transcriptional activator. Seems to be essential for sexual differentiation and formation of the primary steroidogenic tissues. Binds to the Ad4 site found in the promoter region of steroidogenic P450 genes such as CYP11A, CYP11B and CYP21B. Also regulates the AMH/Muellerian inhibiting substance gene as well as the AHCH and STAR genes. 5'-YCAAGGYC-3' and 5'-RRAGGTCA-3' are the consensus sequences for the recognition by NR5A1. The SFPQ-NONO- NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional avtivity. Binds phosphatidylcholine. Binds phospholipids with a phosphatidylinositol (PI) headgroup, in particular PI(3,4)P2 and PI(3,4,5)P3 |
| Enzyme 56 Pathways |
Not Available |
| Enzyme 56 Reactions |
Not Available |
| Enzyme 56 Pfam Domain Function |
|
| Enzyme 56 Signals |
|
| Enzyme 56 Transmembrane Regions |
|
| Enzyme 56 Essentiality |
Not Available |
| Enzyme 56 GenBank ID Protein |
Not Available |
| Enzyme 56 UniProtKB/Swiss-Prot ID |
Q13285  |
| Enzyme 56 UniProtKB/Swiss-Prot Entry Name |
STF1_HUMAN  |
| Enzyme 56 PDB ID |
1YP0  |
| Enzyme 56 PDB File |
Show |
| Enzyme 56 3D Structure |
|
| Enzyme 56 Cellular Location |
Not Available |
| Enzyme 56 Gene Sequence |
>1386 bp
ATGGACTATTCGTACGACGAGGACCTGGACGAGCTGTGCCCCGTGTGCGGGGACAAGGTG
TCCGGCTACCACTACGGACTGCTCACGTGTGAGAGCTGCAAGGGCTTCTTCAAGCGCACG
GTGCAGAACAACAAGCACTACACGTGCACCGAGAGCCAGAGCTGCAAGATCGACAAGACG
CAGCGCAAGCGCTGTCCCTTCTGCCGCTTCCAGAAATGCCTGACGGTGGGGATGCGCCTG
GAAGCCGTGCGCGCTGACCGTATGAGGGGTGGCCGGAACAAGTTTGGGCCGATGTACAAG
CGGGACCGGGCCCTGAAACAGCAGAAGAAGGCACAGATTCGGGCCAATGGCTTCAAGCTG
GAGACAGGGCCCCCGATGGGGGTGCCCCCGCCGCCCCCTCCCGCACCGGACTACGTGCTG
CCTCCCAGCCTGCATGGGCCTGAGCCCAAGGGCCTGGCCGCCGGTCCACCTGCTGGGCCA
CTGGGCGACTTTGGGGCCCCAGCACTGCCCATGGCCGTGCCCGGTGCCCACGGGCCACTG
GCTGGCTACCTCTACCCTGCCTTTCCTGGCCGTGCCATCAAGTCTGAGTACCCGGAGCCT
TATGCCAGCCCCCCACAGCCTGGGCTGCCGTACGGCTACCCAGAGCCCTTCTCTGGAGGC
CCCAACGTGCCTGAGCTCATCCTGCAGCTGCTGCAGCTGGAGCCGGATGAGGACCAGGTG
CGGGCCCGCATCTTGGGCTGCCTGCAGGAGCCCACCAAAAGCCGCCCCGACCAGCCGGCG
GCCTTCGGCCTCCTGTGCAGAATGGCCGACCAGACCTTCATCTCCATCGTGGACTGGGCA
CGCAGGTGCATGGTCTTCAAGGAGCTGGAGGTGGCCGACCAGATGACGCTGCTGCAGAAC
TGCTGGAGCGAGCTGCTGGTGTTCGACCACATCTACCGCCAGGTCCAGCACGGCAAGGAG
GGCAGCATCCTGCTGGTCACCGGGCAGGAGGTGGAGCTGACCACAGTGGCCACCCAGGCG
GGCTCGCTGCTGCACAGCCTGGTGTTGCGGGCGCAGGAGCTGGTGCTGCAGCTGCTTGCG
CTGCAGCTGGACCGGCAGGAGTTTGTCTGCCTCAAGTTCATCATCCTCTTCAGCCTGGAT
TTGAAGTTCCTGAATAACCACATCCTGGTGAAAGACGCTCAGGAGAAGGCCAACGCCGCC
CTGCTTGACTACACCCTGTGCCACTACCCGCACTGCGGGGACAAATTCCAGCAGCTGCTG
CTGTGCCTGGTGGAGGTGCGGGCCCTGAGCATGCAGGCCAAGGAGTACCTGTACCACAAG
CACCTGGGCAACGAGATGCCCCGCAACAACCTGCTCATCGAAATGCTGCAAGCCAAGCAG
ACTTGA
|
| Enzyme 56 GenBank Gene ID |
U76388  |
| Enzyme 56 GeneCard ID |
NR5A1  |
| Enzyme 56 GenAtlas ID |
NR5A1  |
| Enzyme 56 HGNC ID |
HGNC:7983  |
| Enzyme 56 Chromosome Location |
9 |
| Enzyme 56 Locus |
9q33 |
| Enzyme 56 SNPs |
SNPJam Report  |
| Enzyme 56 General References |
- Oba K, Yanase T, Nomura M, Morohashi K, Takayanagi R, Nawata H: Structural characterization of human Ad4bp (SF-1) gene. Biochem Biophys Res Commun. 1996 Sep 4;226(1):261-7. [PubMed
]
- Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL, Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R, Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H, Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ, Bentley DR, Beck S, Rogers J, Dunham I: DNA sequence and analysis of human chromosome 9. Nature. 2004 May 27;429(6990):369-74. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Hammer GD, Krylova I, Zhang Y, Darimont BD, Simpson K, Weigel NL, Ingraham HA: Phosphorylation of the nuclear receptor SF-1 modulates cofactor recruitment: integration of hormone signaling in reproduction and stress. Mol Cell. 1999 Apr;3(4):521-6. [PubMed
]
- Jacob AL, Lund J, Martinez P, Hedin L: Acetylation of steroidogenic factor 1 protein regulates its transcriptional activity and recruits the coactivator GCN5. J Biol Chem. 2001 Oct 5;276(40):37659-64. Epub 2001 Jul 30. [PubMed
]
- Sewer MB, Nguyen VQ, Huang CJ, Tucker PW, Kagawa N, Waterman MR: Transcriptional activation of human CYP17 in H295R adrenocortical cells depends on complex formation among p54(nrb)/NonO, protein-associated splicing factor, and SF-1, a complex that also participates in repression of transcription. Endocrinology. 2002 Apr;143(4):1280-90. [PubMed
]
- Komatsu T, Mizusaki H, Mukai T, Ogawa H, Baba D, Shirakawa M, Hatakeyama S, Nakayama KI, Yamamoto H, Kikuchi A, Morohashi K: Small ubiquitin-like modifier 1 (SUMO-1) modification of the synergy control motif of Ad4 binding protein/steroidogenic factor 1 (Ad4BP/SF-1) regulates synergistic transcription between Ad4BP/SF-1 and Sox9. Mol Endocrinol. 2004 Oct;18(10):2451-62. Epub 2004 Jun 10. [PubMed
]
- Li D, Urs AN, Allegood J, Leon A, Merrill AH Jr, Sewer MB: Cyclic AMP-stimulated interaction between steroidogenic factor 1 and diacylglycerol kinase theta facilitates induction of CYP17. Mol Cell Biol. 2007 Oct;27(19):6669-85. Epub 2007 Jul 30. [PubMed
]
- Krylova IN, Sablin EP, Moore J, Xu RX, Waitt GM, MacKay JA, Juzumiene D, Bynum JM, Madauss K, Montana V, Lebedeva L, Suzawa M, Williams JD, Williams SP, Guy RK, Thornton JW, Fletterick RJ, Willson TM, Ingraham HA: Structural analyses reveal phosphatidyl inositols as ligands for the NR5 orphan receptors SF-1 and LRH-1. Cell. 2005 Feb 11;120(3):343-55. [PubMed
]
- Wang W, Zhang C, Marimuthu A, Krupka HI, Tabrizizad M, Shelloe R, Mehra U, Eng K, Nguyen H, Settachatgul C, Powell B, Milburn MV, West BL: The crystal structures of human steroidogenic factor-1 and liver receptor homologue-1. Proc Natl Acad Sci U S A. 2005 May 24;102(21):7505-10. Epub 2005 May 16. [PubMed
]
- Achermann JC, Ito M, Ito M, Hindmarsh PC, Jameson JL: A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nat Genet. 1999 Jun;22(2):125-6. [PubMed
]
- Biason-Lauber A, Schoenle EJ: Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency. Am J Hum Genet. 2000 Dec;67(6):1563-8. Epub 2000 Oct 18. [PubMed
]
- Achermann JC, Ozisik G, Ito M, Orun UA, Harmanci K, Gurakan B, Jameson JL: Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. J Clin Endocrinol Metab. 2002 Apr;87(4):1829-33. [PubMed
]
- Lin L, Philibert P, Ferraz-de-Souza B, Kelberman D, Homfray T, Albanese A, Molini V, Sebire NJ, Einaudi S, Conway GS, Hughes IA, Jameson JL, Sultan C, Dattani MT, Achermann JC: Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. J Clin Endocrinol Metab. 2007 Mar;92(3):991-9. Epub 2007 Jan 2. [PubMed
]
- Kohler B, Lin L, Ferraz-de-Souza B, Wieacker P, Heidemann P, Schroder V, Biebermann H, Schnabel D, Gruters A, Achermann JC: Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. Hum Mutat. 2008 Jan;29(1):59-64. [PubMed
]
- Lourenco D, Brauner R, Lin L, De Perdigo A, Weryha G, Muresan M, Boudjenah R, Guerra-Junior G, Maciel-Guerra AT, Achermann JC, McElreavey K, Bashamboo A: Mutations in NR5A1 associated with ovarian insufficiency. N Engl J Med. 2009 Mar 19;360(12):1200-10. Epub 2009 Feb 25. [PubMed
]
|
| Enzyme 56 Metabolite References |
Not Available |
|
Enzyme 57
[top]
|
| Enzyme 57 ID |
8471 |
| Enzyme 57 Name |
Cystine/glutamate transporter |
| Enzyme 57 Synonyms |
- Amino acid transport system xc-
- Calcium channel blocker resistance protein CCBR1
- Solute carrier family 7 member 11
- xCT
|
| Enzyme 57 Gene Name |
SLC7A11 |
| Enzyme 57 Protein Sequence |
>Cystine/glutamate transporter
MVRKPVVSTISKGGYLQGNVNGRLPSLGNKEPPGQEKVQLKRKVTLLRGVSIIIGTIIGA
GIFISPKGVLQNTGSVGMSLTIWTVCGVLSLFGALSYAELGTTIKKSGGHYTYILEVFGP
LPAFVRVWVELLIIRPAATAVISLAFGRYILEPFFIQCEIPELAIKLITAVGITVVMVLN
SMSVSWSARIQIFLTFCKLTAILIIIVPGVMQLIKGQTQNFKDAFSGRDSSITRLPLAFY
YGMYAYAGWFYLNFVTEEVENPEKTIPLAICISMAIVTIGYVLTNVAYFTTINAEELLLS
NAVAVTFSERLLGNFSLAVPIFVALSCFGSMNGGVFAVSRLFYVASREGHLPEILSMIHV
RKHTPLPAVIVLHPLTMIMLFSGDLDSLLNFLSFARWLFIGLAVAGLIYLRYKCPDMHRP
FKVPLFIPALFSFTCLFMVALSLYSDPFSTGIGFVITLTGVPAYYLFIIWDKKPRWFRIM
SEKITRTLQIILEVVPEEDKL
|
| Enzyme 57 Number of Residues |
501 |
| Enzyme 57 Molecular Weight |
55422.4 |
| Enzyme 57 Theoretical pI |
9.51 |
| Enzyme 57 GO Classification |
| Function |
- active transmembrane transporter activity
- amine transmembrane transporter activity
- amino acid transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- amine transport
- amino acid transport
- establishment of localization
- transmembrane transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 57 General Function |
Involved in transport |
| Enzyme 57 Specific Function |
Sodium-independent, high-affinity exchange of anionic amino acids with high specificity for anionic form of cystine and glutamate |
| Enzyme 57 Pathways |
Not Available |
| Enzyme 57 Reactions |
Not Available |
| Enzyme 57 Pfam Domain Function |
|
| Enzyme 57 Signals |
|
| Enzyme 57 Transmembrane Regions |
- 44-64
75-95
114-134
159-179
190-210
235-255
266-286
318-338
365-385
388-408
423-443
450-470
|
| Enzyme 57 Essentiality |
Not Available |
| Enzyme 57 GenBank ID Protein |
Not Available |
| Enzyme 57 UniProtKB/Swiss-Prot ID |
Q9UPY5  |
| Enzyme 57 UniProtKB/Swiss-Prot Entry Name |
XCT_HUMAN  |
| Enzyme 57 PDB ID |
Not Available |
| Enzyme 57 Cellular Location |
Not Available |
| Enzyme 57 Gene Sequence |
>1506 bp
ATGGTCAGAAAGCCTGTTGTGTCCACCATCTCCAAAGGAGGTTACCTGCAGGGAAATGTT
AACGGGAGGCTGCCTTCCCTGGGCAACAAGGAGCCACCTGGGCAGGAGAAAGTGCAGCTG
AAGAGGAAAGTCACTTTACTGAGGGGAGTCTCCATTATCATTGGCACCATCATTGGAGCA
GGAATCTTCATCTCTCCTAAGGGCGTGCTCCAGAACACGGGCAGCGTGGGCATGTCTCTG
ACCATCTGGACGGTGTGTGGGGTCCTGTCACTATTTGGAGCTTTGTCTTATGCTGAATTG
GGAACAACTATAAAGAAATCTGGAGGTCATTACACATATATTTTGGAAGTCTTTGGTCCA
TTACCAGCTTTTGTACGAGTCTGGGTGGAACTCCTCATAATACGCCCTGCAGCTACTGCT
GTGATATCCCTGGCATTTGGACGCTACATTCTGGAACCATTTTTTATTCAATGTGAAATC
CCTGAACTTGCGATCAAGCTCATTACAGCTGTGGGCATAACTGTAGTGATGGTCCTAAAT
AGCATGAGTGTCAGCTGGAGCGCCCGGATCCAGATTTTCTTAACCTTTTGCAAGCTCACA
GCAATTCTGATAATTATAGTCCCTGGAGTTATGCAGCTAATTAAAGGTCAAACGCAGAAC
TTTAAAGACGCGTTTTCAGGAAGAGATTCAAGTATTACGCGGTTGCCACTGGCTTTTTAT
TATGGAATGTATGCATATGCTGGCTGGTTTTACCTCAACTTTGTTACTGAAGAAGTAGAA
AACCCTGAAAAAACCATTCCCCTTGCAATATGTATATCCATGGCCATTGTCACCATTGGC
TATGTGCTGACAAATGTGGCCTACTTTACGACCATTAATGCTGAGGAGCTGCTGCTTTCA
AATGCAGTGGCAGTGACCTTTTCTGAGCGGCTACTGGGAAATTTCTCATTAGCAGTTCCG
ATCTTTGTTGCCCTCTCCTGCTTTGGCTCCATGAACGGTGGTGTGTTTGCTGTCTCCAGG
TTATTCTATGTTGCGTCTCGAGAGGGTCACCTTCCAGAAATCCTCTCCATGATTCATGTC
CGCAAGCACACTCCTCTACCAGCTGTTATTGTTTTGCACCCTTTGACAATGATAATGCTC
TTCTCTGGAGACCTCGACAGTCTTTTGAATTTCCTCAGTTTTGCCAGGTGGCTTTTTATT
GGGCTGGCAGTTGCTGGGCTGATTTATCTTCGATACAAATGCCCAGATATGCATCGTCCT
TTCAAGGTGCCACTGTTCATCCCAGCTTTGTTTTCCTTCACATGCCTCTTCATGGTTGCC
CTTTCCCTCTATTCGGACCCATTTAGTACAGGGATTGGCTTCGTCATCACTCTGACTGGA
GTCCCTGCGTATTATCTCTTTATTATATGGGACAAGAAACCCAGGTGGTTTAGAATAATG
TCAGAGAAAATAACCAGAACATTACAAATAATACTGGAAGTTGTACCAGAAGAAGATAAG
TTATGA
|
| Enzyme 57 GenBank Gene ID |
AB026891  |
| Enzyme 57 GeneCard ID |
SLC7A11  |
| Enzyme 57 GenAtlas ID |
SLC7A11  |
| Enzyme 57 HGNC ID |
HGNC:11059  |
| Enzyme 57 Chromosome Location |
4 |
| Enzyme 57 Locus |
4q28-q32 |
| Enzyme 57 SNPs |
SNPJam Report  |
| Enzyme 57 General References |
- Sato H, Tamba M, Kuriyama-Matsumura K, Okuno S, Bannai S: Molecular cloning and expression of human xCT, the light chain of amino acid transport system xc-. Antioxid Redox Signal. 2000 Winter;2(4):665-71. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Gasol E, Jimenez-Vidal M, Chillaron J, Zorzano A, Palacin M: Membrane topology of system xc- light subunit reveals a re-entrant loop with substrate-restricted accessibility. J Biol Chem. 2004 Jul 23;279(30):31228-36. Epub 2004 May 19. [PubMed
]
- Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. Cell. 2006 Nov 3;127(3):635-48. [PubMed
]
- Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. Mol Cell. 2008 Aug 8;31(3):438-48. [PubMed
]
- Oppermann FS, Gnad F, Olsen JV, Hornberger R, Greff Z, Keri G, Mann M, Daub H: Large-scale proteomics analysis of the human kinome. Mol Cell Proteomics. 2009 Jul;8(7):1751-64. Epub 2009 Apr 15. [PubMed
]
|
| Enzyme 57 Metabolite References |
Not Available |
|
Enzyme 58
[top]
|
| Enzyme 58 ID |
8479 |
| Enzyme 58 Name |
Asc-type amino acid transporter 1 |
| Enzyme 58 Synonyms |
- Asc-1
- Solute carrier family 7 member 10
|
| Enzyme 58 Gene Name |
SLC7A10 |
| Enzyme 58 Protein Sequence |
>Asc-type amino acid transporter 1
MAGHTQQPSGRGNPRPAPSPSPVPGTVPGASERVALKKEIGLLSACTIIIGNIIGSGIFI
SPKGVLEHSGSVGLALFVWVLGGGVTALGSLCYAELGVAIPKSGGDYAYVTEIFGGLAGF
LLLWSAVLIMYPTSLAVISMTFSNYVLQPVFPNCIPPTTASRVLSMACLMLLTWVNSSSV
RWATRIQDMFTGGKLLALSLIIGVGLLQIFQGHFEELRPSNAFAFWMTPSVGHLALAFLQ
GSFAFSGWNFLNYVTEEMVDARKNLPRAIFISIPLVTFVYTFTNIAYFTAMSPQELLSSN
AVAVTFGEKLLGYFSWVMPVSVALSTFGGINGYLFTYSRLCFSGAREGHLPSLLAMIHVR
HCTPIPALLVCCGATAVIMLVGDTYTLINYVSFINYLCYGVTILGLLLLRWRRPALHRPI
KVNLLIPVAYLVFWAFLLVFSFISEPMVCGVGVIIILTGVPIFFLGVFWRSKPKCVHRLT
ESMTHWGQELCFVVYPQDAPEEEENGPCPPSLLPATDKPSKPQ
|
| Enzyme 58 Number of Residues |
523 |
| Enzyme 58 Molecular Weight |
56797.4 |
| Enzyme 58 Theoretical pI |
8.24 |
| Enzyme 58 GO Classification |
| Function |
- active transmembrane transporter activity
- amine transmembrane transporter activity
- amino acid transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- amine transport
- amino acid transport
- establishment of localization
- transmembrane transport
- transport
|
| Component |
|
|
| Enzyme 58 General Function |
Amino acid transport and metabolism |
| Enzyme 58 Specific Function |
Sodium-independent, high affinity transport of small neutral D- and L-amino acids. May play a role in the modulation of glutamatergic transmission through mobilization of D-serine at the glutamatergic synapse |
| Enzyme 58 Pathways |
Not Available |
| Enzyme 58 Reactions |
Not Available |
| Enzyme 58 Pfam Domain Function |
|
| Enzyme 58 Signals |
|
| Enzyme 58 Transmembrane Regions |
- 40-60
72-92
113-133
268-288
310-330
362-382
388-408
424-444
448-468
|
| Enzyme 58 Essentiality |
Not Available |
| Enzyme 58 GenBank ID Protein |
9309293  |
| Enzyme 58 UniProtKB/Swiss-Prot ID |
Q9NS82  |
| Enzyme 58 UniProtKB/Swiss-Prot Entry Name |
AAA1_HUMAN  |
| Enzyme 58 PDB ID |
Not Available |
| Enzyme 58 Cellular Location |
Not Available |
| Enzyme 58 Gene Sequence |
>1572 bp
ATGGCCGGCCACACGCAGCAGCCGAGCGGGCGCGGGAACCCCAGGCCTGCGCCCTCGCCC
TCCCCAGTCCCAGGGACCGTCCCCGGCGCCTCGGAGCGGGTGGCGCTCAAGAAGGAGATC
GGGCTGCTGAGCGCCTGCACCATCATCATCGGGAACATCATCGGCTCGGGCATCTTCATC
TCGCCCAAGGGGGTCCTGGAGCACTCAGGCTCCGTGGGTCTGGCCCTGTTCGTCTGGGTC
CTGGGTGGGGGCGTGACGGCTCTGGGCTCCCTCTGCTATGCAGAGCTGGGAGTCGCCATC
CCCAAGTCTGGCGGGGACTACGCCTACGTCACAGAGATCTTCGGGGGCCTGGCTGGCTTT
CTGCTGCTCTGGAGCGCCGTCCTCATCATGTACCCCACCAGCCTTGCTGTCATCTCCATG
ACCTTCTCCAACTACGTGCTGCAGCCCGTGTTCCCCAACTGCATCCCCCCCACCACAGCC
TCCCGGGTGCTGTCCATGGCCTGCCTGATGCTCCTGACATGGGTGAACAGCTCCAGTGTG
CGCTGGGCCACGCGCATCCAGGACATGTTCACAGGCGGGAAGCTGCTGGCCTTGTCCCTC
ATCATCGGCGTGGGCCTTCTCCAGATCTTCCAAGGACACTTCGAGGAGCTGAGGCCCAGC
AATGCCTTTGCTTTCTGGATGACGCCCTCCGTGGGACACCTGGCCCTGGCCTTCCTCCAG
GGCTCCTTCGCCTTCAGTGGCTGGAACTTCCTCAACTATGTCACCGAGGAGATGGTTGAC
GCCCGAAAGAACCTACCTCGCGCCATCTTCATCTCCATCCCACTGGTGACCTTCGTGTAC
ACGTTCACCAACATTGCCTACTTCACGGCCATGTCCCCCCAGGAGCTGCTCTCCTCCAAT
GCGGTGGCTGTGACCTTCGGGGAGAAGCTGCTGGGCTACTTTTCTTGGGTCATGCCTGTC
TCCGTGGCTCTGTCAACCTTCGGAGGGATCAATGGTTACCTGTTCACCTACTCCAGGCTG
TGCTTCTCTGGAGCCCGCGAGGGGCACCTGCCCAGCCTGCTGGCCATGATCCACGTCAGA
CACTGCACCCCCATCCCCGCCCTCCTCGTCTGTTGCGGGGCCACAGCCGTCATCATGCTC
GTGGGCGACACGTACACGCTCATCAACTATGTGTCCTTCATCAACTACCTCTGCTACGGC
GTCACCATCCTGGGCCTGCTGCTGCTGCGCTGGAGGCGGCCTGCACTCCACAGGCCCATC
AAGGTGAACCTTCTCATCCCCGTGGCGTACTTGGTCTTCTGGGCCTTCCTGCTGGTCTTC
AGCTTCATCTCAGAGCCTATGGTCTGTGGGGTCGGCGTCATCATCATCCTTACGGGGGTG
CCCATTTTCTTTCTGGGAGTGTTCTGGAGAAGCAAACCAAAGTGTGTGCACAGACTCACA
GAGTCCATGACACACTGGGGCCAGGAGCTGTGTTTCGTGGTCTACCCCCAGGACGCCCCC
GAAGAGGAGGAGAATGGCCCCTGCCCACCCTCCCTGCTGCCTGCCACAGACAAGCCCTCG
AAGCCACAATGA
|
| Enzyme 58 GenBank Gene ID |
AB037670  |
| Enzyme 58 GeneCard ID |
SLC7A10  |
| Enzyme 58 GenAtlas ID |
Not Available |
| Enzyme 58 HGNC ID |
Not Available |
| Enzyme 58 Chromosome Location |
1 |
| Enzyme 58 Locus |
19q13.1 |
| Enzyme 58 SNPs |
SNPJam Report  |
| Enzyme 58 General References |
- Nakauchi J, Matsuo H, Kim DK, Goto A, Chairoungdua A, Cha SH, Inatomi J, Shiokawa Y, Yamaguchi K, Saito I, Endou H, Kanai Y: Cloning and characterization of a human brain Na(+)-independent transporter for small neutral amino acids that transports D-serine with high affinity. Neurosci Lett. 2000 Jun 30;287(3):231-5. [PubMed
]
- Leclerc D, Wu Q, Ellis JR, Goodyer P, Rozen R: Is the SLC7A10 gene on chromosome 19 a candidate locus for cystinuria? Mol Genet Metab. 2001 Aug;73(4):333-9. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
|
| Enzyme 58 Metabolite References |
Not Available |
|
Enzyme 59
[top]
|
| Enzyme 59 ID |
8480 |
| Enzyme 59 Name |
Sodium-dependent phosphate transport protein 4 |
| Enzyme 59 Synonyms |
- Na(+)/PI cotransporter 4
- Sodium/phosphate cotransporter 4
- Solute carrier family 17 member 3
|
| Enzyme 59 Gene Name |
SLC17A3 |
| Enzyme 59 Protein Sequence |
>Sodium-dependent phosphate transport protein 4
MATKTELSPTARESKNAQDMQVDETLIPRKVPSLCSARYGIALVLHFCNFTTIAQNVIMN
ITMVAMVNSTSPQSQLNDSSEVLPVDSFGGLSKAPKSLPAKSSILGGQFAIWEKWGPPQE
RSRLCSIALSGMLLGCFTAILIGGFISETLGWPFVFYIFGGVGCVCCLLWFVVIYDDPVS
YPWISTSEKEYIISSLKQQVGSSKQPLPIKAMLRSLPIWSICLGCFSHQWLVSTMVVYIP
TYISSVYHVNIRDNGLLSALPFIVAWVIGMVGGYLADFLLTKKFRLITVRKIATILGSLP
SSALIVSLPYLNSGYITATALLTLSCGLSTLCQSGIYINVLDIAPRYSSFLMGASRGFSS
IAPVIVPTVSGFLLSQDPEFGWRNVFFLLFAVNLLGLLFYLIFGEADVQEWAKERKLTRL
|
| Enzyme 59 Number of Residues |
420 |
| Enzyme 59 Molecular Weight |
46105.7 |
| Enzyme 59 Theoretical pI |
8.46 |
| Enzyme 59 GO Classification |
| Function |
| — |
| Process |
- establishment of localization
- transmembrane transport
- transport
|
| Component |
| — |
|
| Enzyme 59 General Function |
Involved in transmembrane transport |
| Enzyme 59 Specific Function |
May be involved in actively transporting phosphate into cells via Na(+) cotransport |
| Enzyme 59 Pathways |
Not Available |
| Enzyme 59 Reactions |
Not Available |
| Enzyme 59 Pfam Domain Function |
|
| Enzyme 59 Signals |
|
| Enzyme 59 Transmembrane Regions |
- 126-146
154-174
218-238
256-276
292-314
319-341
357-377
385-405
|
| Enzyme 59 Essentiality |
Not Available |
| Enzyme 59 GenBank ID Protein |
11225666  |
| Enzyme 59 UniProtKB/Swiss-Prot ID |
O00476  |
| Enzyme 59 UniProtKB/Swiss-Prot Entry Name |
NPT4_HUMAN  |
| Enzyme 59 PDB ID |
Not Available |
| Enzyme 59 Cellular Location |
Not Available |
| Enzyme 59 Gene Sequence |
>1263 bp
ATGGCCACCAAGACAGAGTTGAGTCCCACAGCAAGGGAGAGCAAGAACGCACAAGATATG
CAAGTGGATGAGACACTGATCCCCAGGAAAGTTCCAAGTTTATGTTCTGCTCGCTATGGA
ATAGCCCTCGTCTTACATTTCTGCAATTTCACAACGATAGCACAAAATGTCATCATGAAC
ATCACCATGGTAGCCATGGTCAACAGCACAAGCCCTCAATCCCAGCTCAATGATTCCTCT
GAGGTGCTGCCTGTTGACTCATTTGGTGGCCTAAGTAAAGCCCCAAAGAGTCTTCCTGCA
AAGTCCTCAATACTTGGGGGTCAGTTTGCAATTTGGGAAAAGTGGGGCCCTCCACAAGAA
CGAAGCAGACTCTGCAGCATTGCTTTATCAGGAATGTTACTGGGATGCTTTACTGCCATC
CTCATAGGTGGCTTCATTAGTGAAACCCTTGGGTGGCCCTTTGTCTTCTATATCTTTGGA
GGTGTTGGCTGTGTCTGCTGCCTTCTCTGGTTTGTTGTGATTTATGATGACCCCGTTTCC
TATCCATGGATAAGCACCTCAGAAAAAGAATACATCATATCCTCCTTGAAACAACAGGTC
GGGTCTTCTAAGCAGCCTCTTCCCATCAAAGCTATGCTCAGATCTCTACCCATTTGGTCC
ATATGTTTAGGCTGTTTCAGCCATCAATGGTTAGTTAGCACAATGGTTGTATACATACCA
ACTTACATCAGCTCTGTGTACCATGTTAACATCAGAGACAATGGACTTCTATCTGCCCTT
CCTTTTATTGTTGCCTGGGTCATAGGCATGGTGGGAGGCTATCTGGCAGATTTCCTTCTA
ACCAAAAAGTTTAGACTCATCACTGTGAGGAAAATTGCCACAATTTTAGGAAGTCTCCCC
TCTTCAGCACTCATTGTGTCTCTGCCTTACCTCAATTCCGGCTATATCACAGCAACTGCC
TTGCTGACGCTCTCTTGCGGATTAAGCACATTGTGTCAGTCAGGGATTTATATCAATGTC
TTAGATATTGCTCCAAGGTATTCCAGTTTTCTCATGGGAGCATCAAGAGGATTTTCGAGC
ATAGCACCTGTCATTGTACCCACTGTCAGTGGATTTCTTCTTAGTCAGGACCCTGAGTTT
GGGTGGAGGAATGTCTTCTTCTTGCTGTTTGCCGTTAACCTGTTAGGACTACTCTTCTAC
CTCATATTTGGAGAAGCAGATGTCCAAGAATGGGCTAAAGAGAGAAAACTCACTCGTTTA
TGA
|
| Enzyme 59 GenBank Gene ID |
AL138726  |
| Enzyme 59 GeneCard ID |
SLC17A3  |
| Enzyme 59 GenAtlas ID |
SLC17A3  |
| Enzyme 59 HGNC ID |
HGNC:10931  |
| Enzyme 59 Chromosome Location |
6 |
| Enzyme 59 Locus |
6p21.3 |
| Enzyme 59 SNPs |
SNPJam Report  |
| Enzyme 59 General References |
- Ruddy DA, Kronmal GS, Lee VK, Mintier GA, Quintana L, Domingo R Jr, Meyer NC, Irrinki A, McClelland EE, Fullan A, Mapa FA, Moore T, Thomas W, Loeb DB, Harmon C, Tsuchihashi Z, Wolff RK, Schatzman RC, Feder JN: A 1.1-Mb transcript map of the hereditary hemochromatosis locus. Genome Res. 1997 May;7(5):441-56. [PubMed
]
- Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L, Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J, Beck S: The DNA sequence and analysis of human chromosome 6. Nature. 2003 Oct 23;425(6960):805-11. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Melis D, Havelaar AC, Verbeek E, Smit GP, Benedetti A, Mancini GM, Verheijen F: NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic. J Inherit Metab Dis. 2004;27(6):725-33. [PubMed
]
|
| Enzyme 59 Metabolite References |
Not Available |
|
Enzyme 60
[top]
|
| Enzyme 60 ID |
8481 |
| Enzyme 60 Name |
Electrogenic sodium bicarbonate cotransporter 1 |
| Enzyme 60 Synonyms |
- Sodium bicarbonate cotransporter
- Na(+)/HCO3(-) cotransporter
- Solute carrier family 4 member 4
- kNBC1
|
| Enzyme 60 Gene Name |
SLC4A4 |
| Enzyme 60 Protein Sequence |
>Electrogenic sodium bicarbonate cotransporter 1
MEDEAVLDRGASFLKHVCDEEEVEGHHTIYIGVHVPKSYRRRRRHKRKTGHKEKKEKERI
SENYSDKSDIENADESSSSILKPLISPAAERIRFILGEEDDSPAPPQLFTELDELLAVDG
QEMEWKETARWIKFEEKVEQGGERWSKPHVATLSLHSLFELRTCMEKGSIMLDREASSLP
QLVEMIVDHQIETGLLKPELKDKVTYTLLRKHRHQTKKSNLRSLADIGKTVSSASRMFTN
PDNGSPAMTHRNLTSSSLNDISDKPEKDQLKNKFMKKLPRDAEASNVLVGEVDFLDTPFI
AFVRLQQAVMLGALTEVPVPTRFLFILLGPKGKAKSYHEIGRAIATLMSDEVFHDIAYKA
KDRHDLIAGIDEFLDEVIVLPPGEWDPAIRIEPPKSLPSSDKRKNMYSGGENVQMNGDTP
HDGGHGGGGHGDCEELQRTGRFCGGLIKDIKRKAPFFASDFYDALNIQALSAILFIYLAT
VTNAITFGGLLGDATDNMQGVLESFLGTAVSGAIFCLFAGQPLTILSSTGPVLVFERLLF
NFSKDNNFDYLEFRLWIGLWSAFLCLILVATDASFLVQYFTRFTEEGFSSLISFIFIYDA
FKKMIKLADYYPINSNFKVGYNTLFSCTCVPPDPANISISNDTTLAPEYLPTMSSTDMYH
NTTFDWAFLSKKECSKYGGNLVGNNCNFVPDITLMSFILFLGTYTSSMALKKFKTSPYFP
TTARKLISDFAIILSILIFCVIDALVGVDTPKLIVPSEFKPTSPNRGWFVPPFGENPWWV
CLAAAIPALLVTILIFMDQQITAVIVNRKEHKLKKGAGYHLDLFWVAILMVICSLMALPW
YVAATVISIAHIDSLKMETETSAPGEQPKFLGVREQRVTGTLVFILTGLSVFMAPILKFI
PMPVLYGVFLYMGVASLNGVQFMDRLKLLLMPLKHQPDFIYLRHVPLRRVHLFTFLQVLC
LALLWILKSTVAAIIFPVMILALVAVRKGMDYLFSQHDLSFLDDVIPEKDKKKKEDEKKK
KKKKGSLDSDNDDSDCPYSEKVPSIKIPMDIMEQQPFLSDSKPSDRERSPTFLERHTSC
|
| Enzyme 60 Number of Residues |
1079 |
| Enzyme 60 Molecular Weight |
121459.4 |
| Enzyme 60 Theoretical pI |
6.79 |
| Enzyme 60 GO Classification |
| Function |
- anion transmembrane transporter activity
- anion:anion antiporter activity
- inorganic anion exchanger activity
- ion transmembrane transporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- anion transport
- establishment of localization
- ion transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 60 General Function |
Involved in anion transport |
| Enzyme 60 Specific Function |
Electrogenic sodium/bicarbonate cotransporter with a Na(+):HCO3(-) stoichiometry varying from 1:2 to 1:3. May regulate bicarbonate influx/efflux at the basolateral membrane of cells and regulate intracellular pH |
| Enzyme 60 Pathways |
Not Available |
| Enzyme 60 Reactions |
Not Available |
| Enzyme 60 Pfam Domain Function |
|
| Enzyme 60 Signals |
|
| Enzyme 60 Transmembrane Regions |
- 469-488
505-526
555-580
692-710
726-748
778-797
823-847
882-901
950-967
971-986
|
| Enzyme 60 Essentiality |
Not Available |
| Enzyme 60 GenBank ID Protein |
148596928  |
| Enzyme 60 UniProtKB/Swiss-Prot ID |
Q9Y6R1  |
| Enzyme 60 UniProtKB/Swiss-Prot Entry Name |
S4A4_HUMAN  |
| Enzyme 60 PDB ID |
Not Available |
| Enzyme 60 Cellular Location |
Not Available |
| Enzyme 60 Gene Sequence |
>3240 bp
ATGGAGGATGAAGCTGTCCTGGACAGAGGGGCTTCCTTCCTCAAGCATGTGTGTGATGAA
GAAGAAGTAGAAGGCCACCATACCATTTACATCGGAGTCCATGTGCCGAAGAGTTACAGG
AGAAGGAGACGTCACAAGAGAAAGACAGGGCACAAAGAAAAGAAGGAAAAGGAGAGAATC
TCTGAGAACTACTCTGACAAATCAGATATTGAAAATGCTGATGAATCCAGCAGCAGCATC
CTAAAACCTCTCATCTCTCCTGCTGCAGAACGCATCCGATTCATCTTGGGAGAGGAGGAT
GACAGCCCAGCTCCCCCTCAGCTCTTCACGGAACTGGATGAGCTGCTGGCCGTGGATGGG
CAGGAGATGGAGTGGAAGGAAACAGCCAGGTGGATCAAGTTTGAAGAAAAAGTGGAACAG
GGTGGGGAAAGATGGAGCAAGCCCCATGTGGCCACATTGTCCCTTCATAGTTTATTTGAG
CTGAGGACATGTATGGAGAAAGGATCCATCATGCTTGATCGGGAGGCTTCTTCTCTCCCA
CAGTTGGTGGAGATGATTGTTGACCATCAGATTGAGACAGGCCTATTGAAACCTGAACTT
AAGGATAAGGTGACCTATACTTTGCTCCGGAAGCACCGGCATCAAACCAAGAAATCCAAC
CTTCGGTCCCTGGCTGACATTGGGAAGACAGTCTCCAGTGCAAGTAGGATGTTTACCAAC
CCTGATAATGGTAGCCCAGCCATGACCCATAGGAATCTGACTTCCTCCAGTCTGAATGAC
ATTTCTGATAAACCGGAGAAGGACCAGCTGAAGAATAAGTTCATGAAAAAATTGCCACGT
GATGCAGAAGCTTCCAACGTGCTTGTTGGGGAGGTTGACTTTTTGGATACTCCTTTCATT
GCCTTTGTTAGGCTACAGCAGGCTGTCATGCTGGGTGCCCTGACTGAAGTTCCTGTGCCC
ACAAGGTTCTTGTTCATTCTCTTAGGTCCTAAGGGGAAAGCCAAGTCCTACCACGAGATT
GGCAGAGCCATTGCCACCCTGATGTCTGATGAGGTGTTCCATGACATTGCTTATAAAGCA
AAAGACAGGCACGACCTGATTGCTGGTATTGATGAGTTCCTAGATGAAGTCATCGTCCTT
CCACCTGGGGAATGGGATCCAGCAATTAGGATAGAGCCTCCTAAGAGTCTTCCATCCTCT
GACAAAAGAAAGAATATGTACTCAGGTGGAGAGAATGTTCAGATGAATGGGGATACGCCC
CATGATGGAGGTCACGGAGGAGGAGGACATGGGGATTGTGAAGAATTGCAGCGAACTGGA
CGGTTCTGTGGTGGACTAATTAAAGACATAAAGAGGAAAGCGCCATTTTTTGCCAGTGAT
TTTTATGATGCTTTAAATATTCAAGCTCTTTCGGCAATTCTCTTCATTTATCTGGCAACT
GTAACTAATGCTATCACTTTTGGAGGACTGCTTGGGGATGCCACTGACAACATGCAGGGC
GTGTTGGAGAGTTTCCTGGGCACTGCTGTCTCTGGAGCCATCTTTTGCCTTTTTGCTGGT
CAACCACTCACTATTCTGAGCAGCACCGGACCTGTCCTAGTTTTTGAGAGGCTTCTATTT
AATTTCAGCAAGGACAATAATTTTGACTATTTGGAGTTTCGCCTTTGGATTGGCCTGTGG
TCCGCCTTCCTATGTCTCATTTTGGTAGCCACTGATGCCAGCTTCTTGGTTCAATACTTC
ACACGTTTCACGGAGGAGGGCTTTTCCTCTCTGATTAGCTTCATCTTTATCTATGATGCT
TTCAAGAAGATGATCAAGCTTGCAGATTACTACCCCATCAACTCCAACTTCAAAGTGGGC
TACAACACTCTCTTTTCCTGTACCTGTGTGCCACCTGACCCAGCTAATATCTCAATATCT
AATGACACCACACTGGCCCCAGAGTATTTGCCAACTATGTCTTCTACTGACATGTACCAT
AATACTACCTTTGACTGGGCATTTTTGTCGAAGAAGGAGTGTTCAAAATACGGAGGAAAC
CTCGTCGGGAACAACTGTAATTTTGTTCCTGATATCACACTCATGTCTTTTATCCTCTTC
TTGGGAACCTACACCTCTTCCATGGCTCTGAAAAAATTCAAAACTAGTCCTTATTTTCCA
ACCACAGCAAGAAAACTGATCAGTGATTTTGCCATTATCTTGTCCATTCTCATCTTTTGT
GTAATAGATGCCCTAGTAGGCGTGGACACCCCAAAACTAATTGTGCCAAGTGAGTTCAAG
CCAACAAGTCCAAACCGAGGTTGGTTCGTTCCACCGTTTGGAGAAAACCCCTGGTGGGTG
TGCCTTGCTGCTGCTATCCCGGCTTTGTTGGTCACTATACTGATTTTCATGGACCAACAA
ATTACAGCTGTGATTGTAAACAGGAAAGAACATAAACTCAAGAAAGGAGCAGGGTATCAC
TTGGATCTCTTTTGGGTGGCCATCCTCATGGTTATATGCTCCCTCATGGCTCTTCCGTGG
TATGTAGCTGCTACGGTCATCTCCATTGCTCACATCGACAGTTTGAAGATGGAGACAGAG
ACTTCTGCACCTGGAGAACAACCAAAGTTTCTAGGAGTGAGGGAACAAAGAGTCACTGGA
ACCCTTGTGTTTATTCTGACTGGTCTGTCAGTCTTTATGGCTCCCATCTTGAAGTTTATA
CCCATGCCTGTACTCTATGGTGTGTTCCTGTATATGGGAGTAGCATCCCTTAATGGTGTG
CAGTTCATGGATCGTCTGAAGCTGCTTCTGATGCCTCTGAAGCATCAGCCTGACTTCATC
TACCTGCGTCATGTTCCTCTGCGCAGAGTCCACCTGTTCACTTTCCTGCAGGTGTTGTGT
CTGGCCCTGCTTTGGATCCTCAAGTCAACGGTGGCTGCTATCATTTTTCCAGTAATGATC
TTGGCACTTGTAGCTGTCAGAAAAGGCATGGACTACCTCTTCTCCCAGCATGACCTCAGC
TTCCTGGATGATGTCATTCCAGAAAAGGACAAGAAAAAGAAGGAGGATGAGAAGAAAAAG
AAAAAGAAGAAGGGAAGTCTGGACAGTGACAATGATGATTCTGACTGCCCATACTCAGAA
AAAGTTCCAAGTATTAAAATTCCAATGGACATCATGGAACAGCAACCTTTCCTAAGCGAT
AGCAAACCTTCTGACAGAGAAAGATCACCAACATTCCTTGAACGCCACACATCATGCTGA
|
| Enzyme 60 GenBank Gene ID |
NM_001098484.2  |
| Enzyme 60 GeneCard ID |
SLC4A4  |
| Enzyme 60 GenAtlas ID |
SLC4A4  |
| Enzyme 60 HGNC ID |
HGNC:11030  |
| Enzyme 60 Chromosome Location |
4 |
| Enzyme 60 Locus |
4q21 |
| Enzyme 60 SNPs |
SNPJam Report  |
| Enzyme 60 General References |
- Burnham CE, Amlal H, Wang Z, Shull GE, Soleimani M: Cloning and functional expression of a human kidney Na+:HCO3- cotransporter. J Biol Chem. 1997 Aug 1;272(31):19111-4. [PubMed
]
- Abuladze N, Lee I, Newman D, Hwang J, Boorer K, Pushkin A, Kurtz I: Molecular cloning, chromosomal localization, tissue distribution, and functional expression of the human pancreatic sodium bicarbonate cotransporter. J Biol Chem. 1998 Jul 10;273(28):17689-95. [PubMed
]
- Choi I, Romero MF, Khandoudi N, Bril A, Boron WF: Cloning and characterization of a human electrogenic Na+-HCO-3 cotransporter isoform (hhNBC). Am J Physiol. 1999 Mar;276(3 Pt 1):C576-84. [PubMed
]
- Sun XC, Bonanno JA: Identification and cloning of the Na/HCO(3-) cotransporter (NBC) in human corneal endothelium. Exp Eye Res. 2003 Sep;77(3):287-95. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Gross E, Hawkins K, Pushkin A, Sassani P, Dukkipati R, Abuladze N, Hopfer U, Kurtz I: Phosphorylation of Ser(982) in the sodium bicarbonate cotransporter kNBC1 shifts the HCO(3)(-) : Na(+) stoichiometry from 3 : 1 to 2 : 1 in murine proximal tubule cells. J Physiol. 2001 Dec 15;537(Pt 3):659-65. [PubMed
]
- Park K, Hurley PT, Roussa E, Cooper GJ, Smith CP, Thevenod F, Steward MC, Case RM: Expression of a sodium bicarbonate cotransporter in human parotid salivary glands. Arch Oral Biol. 2002 Jan;47(1):1-9. [PubMed
]
- Gross E, Pushkin A, Abuladze N, Fedotoff O, Kurtz I: Regulation of the sodium bicarbonate cotransporter kNBC1 function: role of Asp(986), Asp(988) and kNBC1-carbonic anhydrase II binding. J Physiol. 2002 Nov 1;544(Pt 3):679-85. [PubMed
]
- Choi I, Hu L, Rojas JD, Schmitt BM, Boron WF: Role of glycosylation in the renal electrogenic Na+-HCO3- cotransporter (NBCe1). Am J Physiol Renal Physiol. 2003 Jun;284(6):F1199-206. Epub 2003 Feb 25. [PubMed
]
- Yamada H, Yamazaki S, Moriyama N, Hara C, Horita S, Enomoto Y, Kudo A, Kawakami H, Tanaka Y, Fujita T, Seki G: Localization of NBC-1 variants in human kidney and renal cell carcinoma. Biochem Biophys Res Commun. 2003 Oct 31;310(4):1213-8. [PubMed
]
- Tatishchev S, Abuladze N, Pushkin A, Newman D, Liu W, Weeks D, Sachs G, Kurtz I: Identification of membrane topography of the electrogenic sodium bicarbonate cotransporter pNBC1 by in vitro transcription/translation. Biochemistry. 2003 Jan 28;42(3):755-65. [PubMed
]
- Alvarez BV, Loiselle FB, Supuran CT, Schwartz GJ, Casey JR: Direct extracellular interaction between carbonic anhydrase IV and the human NBC1 sodium/bicarbonate co-transporter. Biochemistry. 2003 Oct 28;42(42):12321-9. [PubMed
]
- Gross E, Fedotoff O, Pushkin A, Abuladze N, Newman D, Kurtz I: Phosphorylation-induced modulation of pNBC1 function: distinct roles for the amino- and carboxy-termini. J Physiol. 2003 Jun 15;549(Pt 3):673-82. Epub 2003 May 2. [PubMed
]
- Kristensen JM, Kristensen M, Juel C: Expression of Na+/HCO3- co-transporter proteins (NBCs) in rat and human skeletal muscle. Acta Physiol Scand. 2004 Sep;182(1):69-76. [PubMed
]
- Li HC, Worrell RT, Matthews JB, Husseinzadeh H, Neumeier L, Petrovic S, Conforti L, Soleimani M: Identification of a carboxyl-terminal motif essential for the targeting of Na+-HCO-3 cotransporter NBC1 to the basolateral membrane. J Biol Chem. 2004 Oct 8;279(41):43190-7. Epub 2004 Jul 25. [PubMed
]
- Pushkin A, Abuladze N, Gross E, Newman D, Tatishchev S, Lee I, Fedotoff O, Bondar G, Azimov R, Ngyuen M, Kurtz I: Molecular mechanism of kNBC1-carbonic anhydrase II interaction in proximal tubule cells. J Physiol. 2004 Aug 15;559(Pt 1):55-65. Epub 2004 Jun 24. [PubMed
]
- Yang Z, Alvarez BV, Chakarova C, Jiang L, Karan G, Frederick JM, Zhao Y, Sauve Y, Li X, Zrenner E, Wissinger B, Hollander AI, Katz B, Baehr W, Cremers FP, Casey JR, Bhattacharya SS, Zhang K: Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. Hum Mol Genet. 2005 Jan 15;14(2):255-65. Epub 2004 Nov 24. [PubMed
]
- Abuladze N, Azimov R, Newman D, Sassani P, Liu W, Tatishchev S, Pushkin A, Kurtz I: Critical amino acid residues involved in the electrogenic sodium-bicarbonate cotransporter kNBC1-mediated transport. J Physiol. 2005 Jun 15;565(Pt 3):717-30. Epub 2005 Apr 7. [PubMed
]
- Igarashi T, Inatomi J, Sekine T, Cha SH, Kanai Y, Kunimi M, Tsukamoto K, Satoh H, Shimadzu M, Tozawa F, Mori T, Shiobara M, Seki G, Endou H: Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities. Nat Genet. 1999 Nov;23(3):264-6. [PubMed
]
- Dinour D, Chang MH, Satoh J, Smith BL, Angle N, Knecht A, Serban I, Holtzman EJ, Romero MF: A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects. J Biol Chem. 2004 Dec 10;279(50):52238-46. Epub 2004 Oct 7. [PubMed
]
- Li HC, Szigligeti P, Worrell RT, Matthews JB, Conforti L, Soleimani M: Missense mutations in Na+:HCO3- cotransporter NBC1 show abnormal trafficking in polarized kidney cells: a basis of proximal renal tubular acidosis. Am J Physiol Renal Physiol. 2005 Jul;289(1):F61-71. Epub 2005 Feb 15. [PubMed
]
- Horita S, Yamada H, Inatomi J, Moriyama N, Sekine T, Igarashi T, Endo Y, Dasouki M, Ekim M, Al-Gazali L, Shimadzu M, Seki G, Fujita T: Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities. J Am Soc Nephrol. 2005 Aug;16(8):2270-8. Epub 2005 Jun 1. [PubMed
]
|
| Enzyme 60 Metabolite References |
Not Available |
|
Enzyme 61
[top]
|
| Enzyme 61 ID |
8494 |
| Enzyme 61 Name |
Sodium-dependent phosphate transporter 2 |
| Enzyme 61 Synonyms |
- Gibbon ape leukemia virus receptor 2
- GLVR-2
- Phosphate transporter 2
- PiT-2
- Pit2
- hPit2
- Solute carrier family 20 member 2
|
| Enzyme 61 Gene Name |
SLC20A2 |
| Enzyme 61 Protein Sequence |
>Sodium-dependent phosphate transporter 2
MAMDEYLWMVILGFIIAFILAFSVGANDVANSFGTAVGSGVVTLRQACILASIFETTGSV
LLGAKVGETIRKGIIDVNLYNETVETLMAGEVSAMVGSAVWQLIASFLRLPISGTHCIVG
STIGFSLVAIGTKGVQWMELVKIVASWFISPLLSGFMSGLLFVLIRIFILKKEDPVPNGL
RALPVFYAATIAINVFSIMYTGAPVLGLVLPMWAIALISFGVALLFAFFVWLFVCPWMRR
KITGKLQKEGALSRVSDESLSKVQEAESPVFKELPGAKANDDSTIPLTGAAGETLGTSEG
TSAGSHPRAAYGRALSMTHGSVKSPISNGTFGFDGHTRSDGHVYHTVHKDSGLYKDLLHK
IHIDRGPEEKPAQESNYRLLRRNNSYTCYTAAICGLPVHATFRAADSSAPEDSEKLVGDT
VSYSKKRLRYDSYSSYCNAVAEAEIEAEEGGVEMKLASELADPDQPREDPAEEEKEEKDA
PEVHLLFHFLQVLTACFGSFAHGGNDVSNAIGPLVALWLIYKQGGVTQEAATPVWLLFYG
GVGICTGLWVWGRRVIQTMGKDLTPITPSSGFTIELASAFTVVIASNIGLPVSTTHCKVG
SVVAVGWIRSRKAVDWRLFRNIFVAWFVTVPVAGLFSAAVMALLMYGILPYV
|
| Enzyme 61 Number of Residues |
652 |
| Enzyme 61 Molecular Weight |
70391.8 |
| Enzyme 61 Theoretical pI |
6.51 |
| Enzyme 61 GO Classification |
| Function |
- anion transmembrane transporter activity
- inorganic anion transmembrane transporter activity
- inorganic phosphate transmembrane transporter activity
- ion transmembrane transporter activity
- phosphate transmembrane transporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- anion transport
- establishment of localization
- inorganic anion transport
- ion transport
- phosphate transport
- transport
|
| Component |
|
|
| Enzyme 61 General Function |
Involved in inorganic phosphate transmembrane transporter activity |
| Enzyme 61 Specific Function |
Sodium-phosphate symporter which seems to play a fundamental housekeeping role in phosphate transport by absorbing phosphate from interstitial fluid for normal cellular functions such as cellular metabolism, signal transduction, and nucleic acid and lipid synthesis. In vitro, sodium-dependent phosphate uptake is not siginificantly affected by acidic and alkaline conditions, however sodium-independent phosphate uptake occurs at acidic conditions. May play a role in extracellular matrix, cartilage and vascular calcification. Functions as a retroviral receptor and confers human cells susceptibility to infection to amphotropic murine leukemia virus (A-MuLV), 10A1 murine leukemia virus (10A1 MLV) and some feline leukemia virus subgroup B (FeLV-B) variants |
| Enzyme 61 Pathways |
Not Available |
| Enzyme 61 Reactions |
Not Available |
| Enzyme 61 Pfam Domain Function |
|
| Enzyme 61 Signals |
|
| Enzyme 61 Transmembrane Regions |
- 6-26
47-67
87-107
110-130
143-163
191-211
214-234
483-503
531-551
572-586
594-609
622-642
|
| Enzyme 61 Essentiality |
Not Available |
| Enzyme 61 GenBank ID Protein |
158255840  |
| Enzyme 61 UniProtKB/Swiss-Prot ID |
Q08357  |
| Enzyme 61 UniProtKB/Swiss-Prot Entry Name |
S20A2_HUMAN  |
| Enzyme 61 PDB ID |
Not Available |
| Enzyme 61 Cellular Location |
Not Available |
| Enzyme 61 Gene Sequence |
>1959 bp
ATGGCCATGGATGAGTATTTGTGGATGGTCATTTTGGGTTTCATCATAGCTTTCATCTTG
GCCTTTTCTGTTGGTGCAAACGATGTTGCCAACTCCTTTGGTACAGCCGTGGGCTCTGGT
GTGGTGACCTTGAGGCAGGCATGCATTTTAGCTTCAATATTTGAAACCACCGGCTCCGTG
TTACTAGGCGCCAAAGTAGGAGAAACCATTCGCAAAGGTATCATTGACGTGAACCTGTAC
AACGAGACGGTGGAGACTCTCATGGCTGGGGAAGTTAGTGCCATGGTTGGTTCCGCTGTG
TGGCAGCTGATTGCTTCCTTCCTGAGGCTTCCAATCTCAGGAACGCACTGCATTGTGGGT
TCTACTATAGGATTCTCACTGGTCGCAATCGGTACCAAAGGTGTGCAGTGGATGGAGCTT
GTCAAGATTGTTGCTTCTTGGTTTATATCTCCACTGTTGTCTGGTTTCATGTCTGGCCTG
CTGTTTGTACTCATCAGAATTTTCATCTTAAAAAAGGAAGACCCTGTTCCCAATGGCCTC
CGGGCACTCCCAGTATTCTATGCTGCTACCATAGCAATCAATGTCTTTTCCATCATGTAC
ACAGGAGCACCAGTGCTCGGCCTTGTTCTCCCCATGTGGGCCATAGCCCTCATTTCCTTT
GGTGTCGCCCTCCTGTTCGCTTTTTTTGTGTGGCTCTTCGTGTGTCCGTGGATGCGGAGG
AAAATAACAGGCAAATTACAAAAAGAAGGTGCTTTATCACGAGTATCTGACGAAAGCCTC
AGTAAGGTTCAGGAAGCAGAGTCCCCAGTATTTAAAGAGCTACCAGGTGCCAAGGCTAAT
GATGACAGCACCATCCCGCTCACGGGAGCAGCAGGGGAGACACTGGGGACCTCGGAAGGC
ACTTCTGCGGGCAGCCACCCTCGGGCTGCATACGGAAGAGCACTGTCCATGACCCATGGC
TCTGTGAAATCGCCCATCTCCAACGGCACCTTCGGCTTCGACGGCCACACCAGGAGCGAC
GGTCATGTGTACCACACCGTGCACAAAGACTCGGGGCTCTACAAAGATCTGCTGCACAAA
ATCCACATCGACAGGGGCCCCGAGGAGAAGCCAGCCCAGGAAAGCAACTACCGGCTGCTG
CGCCGAAACAACAGTTACACCTGCTACACCGCAGCCATTTGTGGGCTGCCAGTGCACGCC
ACCTTTCGAGCTGCGGACTCATCGGCCCCAGAGGACAGTGAGAAGCTGGTGGGCGACACC
GTGTCCTACTCCAAGAAGAGGCTGCGCTACGACAGCTACTCGAGCTACTGTAACGCGGTG
GCAGAGGCGGAGATCGAGGCGGAGGAGGGCGGCGTGGAGATGAAGCTGGCGTCGGAGCTG
GCCGACCCTGACCAGCCGCGAGAGGACCCTGCAGAGGAGGAGAAGGAGGAGAAGGACGCA
CCCGAGGTTCACCTCCTGTTCCATTTCCTGCAGGTCCTCACCGCCTGTTTCGGGTCCTTT
GCTCACGGCGGCAATGACGTGAGTAATGCCATCGGTCCCCTGGTAGCCTTGTGGCTGATT
TACAAACAAGGCGGGGTAACGCAAGAAGCAGCTACACCCGTCTGGCTGCTGTTTTATGGA
GGAGTTGGAATCTGCACAGGCCTCTGGGTCTGGGGGAGAAGAGTGATCCAGACCATGGGG
AAGGACCTCACTCCCATCACGCCGTCCAGCGGCTTCACGATCGAGCTGGCCTCAGCCTTC
ACAGTGGTGATCGCCTCCAACATCGGGCTTCCAGTCAGCACCACGCACTGTAAGGTGGGC
TCGGTGGTGGCCGTGGGCTGGATCCGCTCCCGCAAGGCTGTGGACTGGCGCCTCTTTCGG
AACATCTTCGTGGCCTGGTTCGTGACCGTCCCTGTGGCTGGGCTGTTCAGCGCTGCTGTC
ATGGCTCTTCTCATGTATGGGATCCTTCCATATGTGTGA
|
| Enzyme 61 GenBank Gene ID |
AK291202  |
| Enzyme 61 GeneCard ID |
SLC20A2  |
| Enzyme 61 GenAtlas ID |
SLC20A2  |
| Enzyme 61 HGNC ID |
HGNC:10947  |
| Enzyme 61 Chromosome Location |
8 |
| Enzyme 61 Locus |
8p12-p11 |
| Enzyme 61 SNPs |
SNPJam Report  |
| Enzyme 61 General References |
- van Zeijl M, Johann SV, Closs E, Cunningham J, Eddy R, Shows TB, O'Hara B: A human amphotropic retrovirus receptor is a second member of the gibbon ape leukemia virus receptor family. Proc Natl Acad Sci U S A. 1994 Feb 1;91(3):1168-72. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Salaun C, Rodrigues P, Heard JM: Transmembrane topology of PiT-2, a phosphate transporter-retrovirus receptor. J Virol. 2001 Jun;75(12):5584-92. [PubMed
]
- Chien ML, Foster JL, Douglas JL, Garcia JV: The amphotropic murine leukemia virus receptor gene encodes a 71-kilodalton protein that is induced by phosphate depletion. J Virol. 1997 Jun;71(6):4564-70. [PubMed
]
- Sugai J, Eiden M, Anderson MM, Van Hoeven N, Meiering CD, Overbaugh J: Identification of envelope determinants of feline leukemia virus subgroup B that permit infection and gene transfer to cells expressing human Pit1 or Pit2. J Virol. 2001 Aug;75(15):6841-9. [PubMed
]
- Bottger P, Pedersen L: Two highly conserved glutamate residues critical for type III sodium-dependent phosphate transport revealed by uncoupling transport function from retroviral receptor function. J Biol Chem. 2002 Nov 8;277(45):42741-7. Epub 2002 Aug 29. [PubMed
]
- Bottger P, Pedersen L: Evolutionary and experimental analyses of inorganic phosphate transporter PiT family reveals two related signature sequences harboring highly conserved aspartic acids critical for sodium-dependent phosphate transport function of human PiT2. FEBS J. 2005 Jun;272(12):3060-74. [PubMed
]
- Bottger P, Hede SE, Grunnet M, Hoyer B, Klaerke DA, Pedersen L: Characterization of transport mechanisms and determinants critical for Na+-dependent Pi symport of the PiT family paralogs human PiT1 and PiT2. Am J Physiol Cell Physiol. 2006 Dec;291(6):C1377-87. Epub 2006 Jun 21. [PubMed
]
- Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, Nardone J, Lee K, Reeves C, Li Y, Hu Y, Tan Z, Stokes M, Sullivan L, Mitchell J, Wetzel R, Macneill J, Ren JM, Yuan J, Bakalarski CE, Villen J, Kornhauser JM, Smith B, Li D, Zhou X, Gygi SP, Gu TL, Polakiewicz RD, Rush J, Comb MJ: Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer. Cell. 2007 Dec 14;131(6):1190-203. [PubMed
]
- Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. Anal Chem. 2009 Jun 1;81(11):4493-501. [PubMed
]
|
| Enzyme 61 Metabolite References |
Not Available |
|
Enzyme 62
[top]
|
| Enzyme 62 ID |
8503 |
| Enzyme 62 Name |
Large neutral amino acids transporter small subunit 3 |
| Enzyme 62 Synonyms |
- L-type amino acid transporter 3
- Prostate cancer overexpressed gene 1 protein
- Solute carrier family 43 member 1
|
| Enzyme 62 Gene Name |
SLC43A1 |
| Enzyme 62 Protein Sequence |
>Large neutral amino acids transporter small subunit 3
MAPTLQQAYRRRWWMACTAVLENLFFSAVLLGWGSLLIILKNEGFYSSTCPAESSTNTTQ
DEQRRWPGCDQQDEMLNLGFTIGSFVLSATTLPLGILMDRFGPRPVRLVGSACFTASCTL
MALASRDVEALSPLIFLALSLNGFGGICLTFTSLTLPNMFGNLRSTLMALMIGSYASSAI
TFPGIKLIYDAGVAFVVIMFTWSGLACLIFLNCTLNWPIEAFPAPEEVNYTKKIKLSGLA
LDHKVTGDLFYTHVTTMGQRLSQKAPSLEDGSDAFMSPQDVRGTSENLPERSVPLRKSLC
SPTFLWSLLTMGMTQLRIIFYMAAVNKMLEYLVTGGQEHETNEQQQKVAETVGFYSSVFG
AMQLLCLLTCPLIGYIMDWRIKDCVDAPTQGTVLGDARDGVATKSIRPRYCKIQKLTNAI
SAFTLTNLLLVGFGITCLINNLHLQFVTFVLHTIVRGFFHSACGSLYAAVFPSNHFGTLT
GLQSLISAVFALLQQPLFMAMVGPLKGEPFWVNLGLLLFSLLGFLLPSYLFYYRARLQQE
YAANGMGPLKVLSGSEVTA
|
| Enzyme 62 Number of Residues |
559 |
| Enzyme 62 Molecular Weight |
61476.2 |
| Enzyme 62 Theoretical pI |
7.73 |
| Enzyme 62 GO Classification |
| Function |
| — |
| Process |
- establishment of localization
- transmembrane transport
- transport
|
| Component |
| — |
|
| Enzyme 62 General Function |
Involved in transmembrane transport |
| Enzyme 62 Specific Function |
Sodium-independent, high affinity transport of large neutral amino acids. Has narrower substrate selectivity compared to SLC7A5 and SLC7A8 and mainly transports branched-chain amino acids and phenylalanine. Plays a role in the development of human prostate cancer, from prostatic intraepithelial neoplasia to invasive prostate cancer |
| Enzyme 62 Pathways |
Not Available |
| Enzyme 62 Reactions |
Not Available |
| Enzyme 62 Pfam Domain Function |
|
| Enzyme 62 Signals |
|
| Enzyme 62 Transmembrane Regions |
- 20-40
78-98
105-124
131-151
168-188
191-211
304-324
357-377
419-439
446-466
485-505
510-530
|
| Enzyme 62 Essentiality |
Not Available |
| Enzyme 62 GenBank ID Protein |
38015938  |
| Enzyme 62 UniProtKB/Swiss-Prot ID |
O75387  |
| Enzyme 62 UniProtKB/Swiss-Prot Entry Name |
LAT3_HUMAN  |
| Enzyme 62 PDB ID |
Not Available |
| Enzyme 62 Cellular Location |
Not Available |
| Enzyme 62 Gene Sequence |
>1680 bp
ATGGCCCCCACGCTGCAACAGGCGTACCGGAGGCGCTGGTGGATGGCCTGCACGGCTGTG
CTGGAGAACCTCTTCTTCTCTGCTGTACTCCTGGGCTGGGGCTCCCTGTTGATCATTCTG
AAGAACGAGGGCTTCTATTCCAGCACGTGCCCAGCTGAGAGCAGCACCAACACCACCCAG
GATGAGCAGCGCAGGTGGCCAGGCTGTGACCAGCAGGACGAGATGCTCAACCTGGGCTTC
ACCATTGGTTCCTTCGTGCTCAGCGCCACCACCCTGCCACTGGGGATCCTCATGGACCGC
TTTGGCCCCCGACCCGTGCGGCTGGTTGGCAGTGCCTGCTTCACTGCGTCCTGCACCCTC
ATGGCCCTGGCCTCCCGGGACGTGGAAGCTCTGTCTCCGTTGATATTCCTGGCGCTGTCC
CTGAATGGCTTTGGTGGCATCTGCCTAACGTTCACTTCACTCACGCTGCCCAACATGTTT
GGGAACCTGCGCTCCACGTTAATGGCCCTCATGATTGGCTCTTACGCCTCTTCTGCCATT
ACGTTCCCAGGAATCAAGCTGATCTACGATGCCGGTGTGGCCTTCGTGGTCATCATGTTC
ACCTGGTCTGGCCTGGCCTGCCTTATCTTTCTGAACTGCACCCTCAACTGGCCCATCGAA
GCCTTTCCTGCCCCTGAGGAAGTCAATTACACGAAGAAGATCAAGCTGAGTGGGCTGGCC
CTGGACCACAAGGTGACAGGTGACCTCTTCTACACCCATGTGACCACCATGGGCCAGAGG
CTCAGCCAGAAGGCCCCCAGCCTGGAGGACGGTTCGGATGCCTTCATGTCACCCCAGGAT
GTTCGGGGCACCTCAGAAAACCTTCCTGAGAGGTCTGTCCCCTTACGCAAGAGCCTCTGC
TCCCCCACTTTCCTGTGGAGCCTCCTCACCATGGGCATGACCCAGCTGCGGATCATCTTC
TACATGGCTGCTGTGAACAAGATGCTGGAGTACCTTGTGACTGGTGGCCAGGAGCATGAG
ACAAATGAACAGCAACAAAAGGTGGCAGAGACAGTTGGGTTCTACTCCTCCGTCTTCGGG
GCCATGCAGCTGTTGTGCCTTCTCACCTGCCCCCTCATTGGCTACATCATGGACTGGCGG
ATCAAGGACTGCGTGGACGCCCCAACTCAGGGCACTGTCCTCGGAGATGCCAGGGACGGG
GTTGCTACCAAATCCATCAGACCACGCTACTGCAAGATCCAAAAGCTCACCAATGCCATC
AGTGCCTTCACCCTGACCAACCTGCTGCTTGTGGGTTTTGGCATCACCTGTCTCATCAAC
AACTTACACCTCCAGTTTGTGACCTTTGTCCTGCACACCATTGTTCGAGGTTTCTTCCAC
TCAGCCTGTGGGAGTCTCTATGCTGCAGTGTTCCCATCCAACCACTTTGGGACGCTGACA
GGCCTGCAGTCCCTCATCAGTGCTGTGTTCGCCTTGCTTCAGCAGCCACTTTTCATGGCG
ATGGTGGGACCCCTGAAAGGAGAGCCCTTCTGGGTGAATCTGGGCCTCCTGCTATTCTCA
CTCCTGGGATTCCTGTTGCCTTCCTACCTCTTCTATTACCGTGCCCGGCTCCAGCAGGAG
TACGCCGCCAATGGGATGGGCCCACTGAAGGTGCTTAGCGGCTCTGAGGTGACCGCATAG
|
| Enzyme 62 GenBank Gene ID |
AB103033  |
| Enzyme 62 GeneCard ID |
SLC43A1  |
| Enzyme 62 GenAtlas ID |
SLC43A1  |
| Enzyme 62 HGNC ID |
HGNC:9225  |
| Enzyme 62 Chromosome Location |
1 |
| Enzyme 62 Locus |
11p11.2-p11.1 |
| Enzyme 62 SNPs |
SNPJam Report  |
| Enzyme 62 General References |
- Cole KA, Chuaqui RF, Katz K, Pack S, Zhuang Z, Cole CE, Lyne JC, Linehan WM, Liotta LA, Emmert-Buck MR: cDNA sequencing and analysis of POV1 (PB39): a novel gene up-regulated in prostate cancer. Genomics. 1998 Jul 15;51(2):282-7. [PubMed
]
- Babu E, Kanai Y, Chairoungdua A, Kim DK, Iribe Y, Tangtrongsup S, Jutabha P, Li Y, Ahmed N, Sakamoto S, Anzai N, Nagamori S, Endou H: Identification of a novel system L amino acid transporter structurally distinct from heterodimeric amino acid transporters. J Biol Chem. 2003 Oct 31;278(44):43838-45. Epub 2003 Aug 20. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Chuaqui RF, Englert CR, Strup SE, Vocke CD, Zhuang Z, Duray PH, Bostwick DG, Linehan WM, Liotta LA, Emmert-Buck MR: Identification of a novel transcript up-regulated in a clinically aggressive prostate carcinoma. Urology. 1997 Aug;50(2):302-7. [PubMed
]
- Skotheim RI, Monni O, Mousses S, Fossa SD, Kallioniemi OP, Lothe RA, Kallioniemi A: New insights into testicular germ cell tumorigenesis from gene expression profiling. Cancer Res. 2002 Apr 15;62(8):2359-64. [PubMed
]
|
| Enzyme 62 Metabolite References |
Not Available |
|
Enzyme 63
[top]
|
| Enzyme 63 ID |
8539 |
| Enzyme 63 Name |
Sodium-dependent phosphate transporter 1 |
| Enzyme 63 Synonyms |
- Gibbon ape leukemia virus receptor 1
- GLVR-1
- Leukemia virus receptor 1 homolog
- Phosphate transporter 1
- PiT-1
- Solute carrier family 20 member 1
|
| Enzyme 63 Gene Name |
SLC20A1 |
| Enzyme 63 Protein Sequence |
>Sodium-dependent phosphate transporter 1
MATLITSTTAATAASGPLVDYLWMLILGFIIAFVLAFSVGANDVANSFGTAVGSGVVTLK
QACILASIFETVGSVLLGAKVSETIRKGLIDVEMYNSTQGLLMAGSVSAMFGSAVWQLVA
SFLKLPISGTHCIVGATIGFSLVAKGQEGVKWSELIKIVMSWFVSPLLSGIMSGILFFLV
RAFILHKADPVPNGLRALPVFYACTVGINLFSIMYTGAPLLGFDKLPLWGTILISVGCAV
FCALIVWFFVCPRMKRKIEREIKCSPSESPLMEKKNSLKEDHEETKLSVGDIENKHPVSE
VGPATVPLQAVVEERTVSFKLGDLEEAPERERLPSVDLKEETSIDSTVNGAVQLPNGNLV
QFSQAVSNQINSSGHYQYHTVHKDSGLYKELLHKLHLAKVGDCMGDSGDKPLRRNNSYTS
YTMAICGMPLDSFRAKEGEQKGEEMEKLTWPNADSKKRIRMDSYTSYCNAVSDLHSASEI
DMSVKAEMGLGDRKGSNGSLEEWYDQDKPEVSLLFQFLQILTACFGSFAHGGNDVSNAIG
PLVALYLVYDTGDVSSKVATPIWLLLYGGVGICVGLWVWGRRVIQTMGKDLTPITPSSGF
SIELASALTVVIASNIGLPISTTHCKVGSVVSVGWLRSKKAVDWRLFRNIFMAWFVTVPI
SGVISAAIMAIFRYVILRM
|
| Enzyme 63 Number of Residues |
679 |
| Enzyme 63 Molecular Weight |
73699.0 |
| Enzyme 63 Theoretical pI |
7.08 |
| Enzyme 63 GO Classification |
| Function |
- anion transmembrane transporter activity
- inorganic anion transmembrane transporter activity
- inorganic phosphate transmembrane transporter activity
- ion transmembrane transporter activity
- phosphate transmembrane transporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- anion transport
- establishment of localization
- inorganic anion transport
- ion transport
- phosphate transport
- transport
|
| Component |
|
|
| Enzyme 63 General Function |
Involved in inorganic phosphate transmembrane transporter activity |
| Enzyme 63 Specific Function |
Sodium-phosphate symporter which plays a fundamental housekeeping role in phosphate transport, such as absorbing phosphate from interstitial fluid for normal cellular functions such as cellular metabolism, signal transduction, and nucleic acid and lipid synthesis. May play a role in extracellular matrix and cartilage calcification as well as in vascular calcification. May function as a retroviral receptor as it confers human cells susceptibility to infection to Gibbon Ape Leukemia Virus (GaLV), Simian sarcoma-associated virus (SSAV) and Feline leukemia virus subgroup B (FeLV-B) as well as 10A1 murine leukemia virus (10A1 MLV) |
| Enzyme 63 Pathways |
Not Available |
| Enzyme 63 Reactions |
Not Available |
| Enzyme 63 Pfam Domain Function |
|
| Enzyme 63 Signals |
|
| Enzyme 63 Transmembrane Regions |
- 21-41
62-82
100-120
158-178
203-223
230-250
511-531
558-578
600-620
650-670
|
| Enzyme 63 Essentiality |
Not Available |
| Enzyme 63 GenBank ID Protein |
62822373  |
| Enzyme 63 UniProtKB/Swiss-Prot ID |
Q8WUM9  |
| Enzyme 63 UniProtKB/Swiss-Prot Entry Name |
S20A1_HUMAN  |
| Enzyme 63 PDB ID |
Not Available |
| Enzyme 63 Cellular Location |
Not Available |
| Enzyme 63 Gene Sequence |
>2040 bp
ATGGCAACGCTGATTACCAGTACTACAGCTGCTACCGCCGCTTCTGGTCCTTTGGTGGAC
TACCTATGGATGCTCATCCTGGGCTTCATTATTGCATTTGTCTTGGCATTCTCCGTGGGA
GCCAATGATGTAGCAAATTCTTTTGGTACAGCTGTGGGCTCAGGTGTAGTGACCCTGAAG
CAAGCCTGCATCCTAGCTAGCATCTTTGAAACAGTGGGCTCTGTCTTACTGGGGGCCAAA
GTGAGCGAAACCATCCGGAAGGGCTTGATTGACGTGGAGATGTACAACTCGACTCAAGGG
CTGCTGATGGCCGGCTCAGTCAGTGCTATGTTTGGTTCTGCTGTGTGGCAACTCGTGGCT
TCGTTTTTGAAGCTCCCTATTTCTGGAACCCATTGTATTGTTGGTGCAACTATTGGTTTC
TCCCTCGTGGCAAAGGGGCAGGAGGGTGTCAAGTGGTCTGAACTGATAAAAATTGTGATG
TCTTGGTTCGTGTCCCCACTGCTTTCTGGAATTATGTCTGGAATTTTATTCTTCCTGGTT
CGTGCATTCATCCTCCATAAGGCAGATCCAGTTCCTAATGGTTTGCGAGCTTTGCCAGTT
TTCTATGCCTGCACAGTTGGAATAAACCTCTTTTCCATCATGTATACTGGAGCACCGTTG
CTGGGCTTTGACAAACTTCCTCTGTGGGGTACCATCCTCATCTCGGTGGGATGTGCAGTT
TTCTGTGCCCTTATCGTCTGGTTCTTTGTATGTCCCAGGATGAAGAGAAAAATTGAACGA
GAAATAAAGTGTAGTCCTTCTGAAAGCCCCTTAATGGAAAAAAAGAATAGCTTGAAAGAA
GACCATGAAGAAACAAAGTTGTCTGTTGGTGATATTGAAAACAAGCATCCTGTTTCTGAG
GTAGGGCCTGCCACTGTGCCCCTCCAGGCTGTGGTGGAGGAGAGAACAGTCTCATTCAAA
CTTGGAGATTTGGAGGAAGCTCCAGAGAGAGAGAGGCTTCCCAGCGTGGACTTGAAAGAG
GAAACCAGCATAGATAGCACCGTGAATGGTGCAGTGCAGTTGCCTAATGGGAACCTTGTC
CAGTTCAGTCAAGCCGTCAGCAACCAAATAAACTCCAGTGGCCACTACCAGTATCACACC
GTGCATAAGGATTCCGGCCTGTACAAAGAGCTACTCCATAAATTACATCTTGCCAAGGTG
GGAGATTGCATGGGAGACTCCGGTGACAAACCCTTAAGGCGCAATAATAGCTATACTTCC
TATACCATGGCAATATGTGGCATGCCTCTGGATTCATTCCGTGCCAAAGAAGGTGAACAG
AAGGGCGAAGAAATGGAGAAGCTGACATGGCCTAATGCAGACTCCAAGAAGCGAATTCGA
ATGGACAGTTACACCAGTTACTGCAATGCTGTGTCTGACCTTCACTCAGCATCTGAGATA
GACATGAGTGTCAAGGCAGAGATGGGTCTAGGTGACAGAAAAGGAAGTAATGGCTCTCTA
GAAGAATGGTATGACCAGGATAAGCCTGAAGTCTCTCTCCTCTTCCAGTTCCTGCAGATC
CTTACAGCCTGCTTTGGGTCATTCGCCCATGGTGGCAATGACGTAAGCAATGCCATTGGG
CCTCTGGTTGCTTTATATTTGGTTTATGACACAGGAGATGTTTCTTCAAAAGTGGCAACA
CCAATATGGCTTCTACTCTATGGTGGTGTTGGTATCTGTGTTGGTCTGTGGGTTTGGGGA
AGAAGAGTTATCCAGACCATGGGGAAGGATCTGACACCGATCACACCCTCTAGTGGCTTC
AGTATTGAACTGGCATCTGCCCTCACTGTGGTGATTGCATCAAATATTGGCCTTCCCATC
AGTACAACACATTGTAAAGTGGGCTCTGTTGTGTCTGTTGGCTGGCTCCGGTCCAAGAAG
GCTGTTGACTGGCGTCTCTTTCGTAACATTTTTATGGCCTGGTTTGTCACAGTCCCCATT
TCTGGAGTTATCAGTGCTGCCATCATGGCAATCTTCAGATATGTCATCCTCAGAATGTGA
|
| Enzyme 63 GenBank Gene ID |
AC079922  |
| Enzyme 63 GeneCard ID |
SLC20A1  |
| Enzyme 63 GenAtlas ID |
SLC20A1  |
| Enzyme 63 HGNC ID |
HGNC:10946  |
| Enzyme 63 Chromosome Location |
2 |
| Enzyme 63 Locus |
2q11-q14 |
| Enzyme 63 SNPs |
SNPJam Report  |
| Enzyme 63 General References |
- O'Hara B, Johann SV, Klinger HP, Blair DG, Rubinson H, Dunn KJ, Sass P, Vitek SM, Robins T: Characterization of a human gene conferring sensitivity to infection by gibbon ape leukemia virus. Cell Growth Differ. 1990 Mar;1(3):119-27. [PubMed
]
- Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK: Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434(7034):724-31. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Palmer G, Manen D, Bonjour JP, Caverzasio J: Characterization of the human Glvr-1 phosphate transporter/retrovirus receptor gene and promoter region. Gene. 1999 Jan 8;226(1):25-33. [PubMed
]
- Takeuchi Y, Vile RG, Simpson G, O'Hara B, Collins MK, Weiss RA: Feline leukemia virus subgroup B uses the same cell surface receptor as gibbon ape leukemia virus. J Virol. 1992 Feb;66(2):1219-22. [PubMed
]
- Johann SV, Gibbons JJ, O'Hara B: GLVR1, a receptor for gibbon ape leukemia virus, is homologous to a phosphate permease of Neurospora crassa and is expressed at high levels in the brain and thymus. J Virol. 1992 Mar;66(3):1635-40. [PubMed
]
- Johann SV, van Zeijl M, Cekleniak J, O'Hara B: Definition of a domain of GLVR1 which is necessary for infection by gibbon ape leukemia virus and which is highly polymorphic between species. J Virol. 1993 Nov;67(11):6733-6. [PubMed
]
- Olah Z, Lehel C, Anderson WB, Eiden MV, Wilson CA: The cellular receptor for gibbon ape leukemia virus is a novel high affinity sodium-dependent phosphate transporter. J Biol Chem. 1994 Oct 14;269(41):25426-31. [PubMed
]
- Miller DG, Miller AD: A family of retroviruses that utilize related phosphate transporters for cell entry. J Virol. 1994 Dec;68(12):8270-6. [PubMed
]
- Kavanaugh MP, Miller DG, Zhang W, Law W, Kozak SL, Kabat D, Miller AD: Cell-surface receptors for gibbon ape leukemia virus and amphotropic murine retrovirus are inducible sodium-dependent phosphate symporters. Proc Natl Acad Sci U S A. 1994 Jul 19;91(15):7071-5. [PubMed
]
- Jono S, McKee MD, Murry CE, Shioi A, Nishizawa Y, Mori K, Morii H, Giachelli CM: Phosphate regulation of vascular smooth muscle cell calcification. Circ Res. 2000 Sep 29;87(7):E10-7. [PubMed
]
- Farrell KB, Russ JL, Murthy RK, Eiden MV: Reassessing the role of region A in Pit1-mediated viral entry. J Virol. 2002 Aug;76(15):7683-93. [PubMed
]
- Cecil DL, Rose DM, Terkeltaub R, Liu-Bryan R: Role of interleukin-8 in PiT-1 expression and CXCR1-mediated inorganic phosphate uptake in chondrocytes. Arthritis Rheum. 2005 Jan;52(1):144-54. [PubMed
]
- Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. Epub 2008 Jul 31. [PubMed
]
- Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. Anal Chem. 2009 Jun 1;81(11):4493-501. [PubMed
]
|
| Enzyme 63 Metabolite References |
Not Available |
|
Enzyme 64
[top]
|
| Enzyme 64 ID |
8547 |
| Enzyme 64 Name |
Solute carrier family 13 member 1 |
| Enzyme 64 Synonyms |
- Renal sodium/sulfate cotransporter
- Na(+)/sulfate cotransporter
- hNaSi-1
|
| Enzyme 64 Gene Name |
SLC13A1 |
| Enzyme 64 Protein Sequence |
>Solute carrier family 13 member 1
MKFFSYILVYRRFLFVVFTVLVLLPLPIVLHTKEAECAYTLFVVATFWLTEALPLSVTAL
LPSLMLPMFGIMPSKKVASAYFKDFHLLLIGVICLATSIEKWNLHKRIALKMVMMVGVNP
AWLTLGFMSSTAFLSMWLSNTSTAAMVMPIAEAVVQQIINAEAEVEATQMTYFNGSTNHG
LEIDESVNGHEINERKEKTKPVPGYNNDTGKISSKVELEKNSGMRTKYRTKKGHVTRKLT
CLCIAYSSTIGGLTTITGTSTNLIFAEYFNTRYPDCRCLNFGSWFTFSFPAALIILLLSW
IWLQWLFLGFNFKEMFKCGKTKTVQQKACAEVIKQEYQKLGPIRYQEIVTLVLFIIMALL
WFSRDPGFVPGWSALFSEYPGFATDSTVALLIGLLFFLIPAKTLTKTTPTGEIVAFDYSP
LITWKEFQSFMPWDIAILVGGGFALADGCEESGLSKWIGNKLSPLGSLPAWLIILISSLM
VTSLTEVASNPATITLFLPILSPLAEAIHVNPLYILIPSTLCTSFAFLLPVANPPNAIVF
SYGHLKVIDMVKAGLGVNIVGVAVVMLGICTWIVPMFDLYTYPSWAPAMSNETMP
|
| Enzyme 64 Number of Residues |
595 |
| Enzyme 64 Molecular Weight |
66133.6 |
| Enzyme 64 Theoretical pI |
8.19 |
| Enzyme 64 GO Classification |
| Function |
|
| Process |
- cation transport
- establishment of localization
- ion transport
- monovalent inorganic cation transport
- sodium ion transport
- transmembrane transport
- transport
|
| Component |
|
|
| Enzyme 64 General Function |
Involved in transporter activity |
| Enzyme 64 Specific Function |
Sodium/sulfate cotransporter that mediates sulfate reabsorption in the kidney |
| Enzyme 64 Pathways |
Not Available |
| Enzyme 64 Reactions |
Not Available |
| Enzyme 64 Pfam Domain Function |
|
| Enzyme 64 Signals |
|
| Enzyme 64 Transmembrane Regions |
- 13-33
41-61
77-97
108-128
131-151
239-259
290-310
348-368
381-401
464-484
491-511
512-532
554-574
|
| Enzyme 64 Essentiality |
Not Available |
| Enzyme 64 GenBank ID Protein |
Not Available |
| Enzyme 64 UniProtKB/Swiss-Prot ID |
Q9BZW2  |
| Enzyme 64 UniProtKB/Swiss-Prot Entry Name |
S13A1_HUMAN  |
| Enzyme 64 PDB ID |
Not Available |
| Enzyme 64 Cellular Location |
Not Available |
| Enzyme 64 Gene Sequence |
>1788 bp
ATGAAATTCTTCAGTTACATTCTGGTTTATCGCCGATTTCTCTTCGTGGTTTTCACTGTG
TTGGTTTTACTACCTCTGCCCATCGTCCTCCACACCAAGGAAGCAGAATGTGCCTACACA
CTCTTTGTGGTCGCCACATTTTGGCTCACAGAAGCATTGCCTCTGTCGGTAACAGCTTTG
CTACCTAGTTTAATGTTACCCATGTTTGGGATCATGCCTTCTAAGAAGGTGGCATCTGCT
TATTTCAAGGATTTTCACTTACTGCTAATTGGAGTTATCTGTTTAGCAACATCCATAGAA
AAATGGAATTTGCACAAGAGAATTGCTCTGAAAATGGTGATGATGGTTGGTGTAAATCCT
GCATGGCTGACGCTGGGGTTCATGAGCAGCACTGCCTTTTTGTCTATGTGGCTCAGCAAC
ACCTCGACGGCTGCCATGGTGATGCCCATTGCGGAGGCTGTAGTGCAGCAGATCATCAAT
GCAGAAGCAGAGGTCGAGGCCACTCAGATGACTTACTTCAACGGATCAACCAACCACGGA
CTAGAAATTGATGAAAGTGTTAATGGACATGAAATAAATGAGAGGAAAGAGAAAACAAAA
CCAGTTCCAGGATACAATAATGATACAGGGAAAATTTCAAGCAAGGTGGAGTTGGAAAAG
AACTCAGGCATGAGAACCAAATATCGAACAAAGAAGGGCCACGTGACACGTAAACTTACG
TGTTTGTGCATTGCCTACTCTTCTACCATTGGTGGACTGACAACAATCACTGGTACCTCC
ACCAACTTGATCTTTGCAGAGTATTTCAATACACGCTATCCTGACTGTCGTTGCCTCAAC
TTTGGATCATGGTTTACGTTTTCCTTCCCAGCTGCCCTTATCATTCTACTCTTATCCTGG
ATCTGGCTTCAGTGGCTTTTCCTAGGATTCAATTTTAAGGAGATGTTCAAATGTGGCAAA
ACCAAAACAGTCCAACAAAAAGCTTGTGCTGAGGTGATTAAGCAAGAATACCAAAAGCTT
GGGCCAATAAGGTATCAAGAAATTGTGACCTTGGTCCTCTTCATTATAATGGCTCTGCTA
TGGTTTAGTCGAGACCCCGGATTTGTTCCTGGTTGGTCTGCACTTTTTTCAGAGTACCCT
GGTTTTGCTACAGATTCAACTGTTGCTTTACTTATAGGGCTGCTATTCTTTCTTATCCCA
GCTAAGACACTGACTAAAACTACACCTACAGGAGAAATTGTTGCTTTTGATTACTCTCCA
CTGATTACTTGGAAAGAATTCCAGTCATTCATGCCCTGGGATATAGCCATTCTTGTTGGT
GGAGGGTTTGCCCTGGCAGATGGTTGTGAGGAGTCTGGATTATCTAAGTGGATAGGAAAT
AAATTATCTCCTCTGGGTTCATTACCAGCATGGCTAATAATTCTGATATCTTCTTTGATG
GTGACATCTTTAACTGAGGTAGCCAGCAATCCAGCTACCATTACACTCTTTCTCCCAATA
TTATCTCCATTGGCCGAAGCCATTCATGTGAACCCTCTTTATATTCTGATACCTTCTACT
CTGTGTACTTCATTTGCATTCCTCCTACCAGTAGCAAATCCACCCAATGCTATTGTCTTT
TCATATGGTCATCTGAAAGTCATTGACATGGTTAAAGCTGGACTTGGTGTCAACATTGTT
GGTGTTGCTGTGGTTATGCTTGGCATATGTACTTGGATTGTACCCATGTTTGACCTCTAC
ACTTACCCTTCGTGGGCTCCTGCTATGAGTAATGAGACCATGCCATAA
|
| Enzyme 64 GenBank Gene ID |
AF260824  |
| Enzyme 64 GeneCard ID |
SLC13A1  |
| Enzyme 64 GenAtlas ID |
SLC13A1  |
| Enzyme 64 HGNC ID |
HGNC:10916  |
| Enzyme 64 Chromosome Location |
7 |
| Enzyme 64 Locus |
7q31-q32 |
| Enzyme 64 SNPs |
SNPJam Report  |
| Enzyme 64 General References |
- Lee A, Beck L, Markovich D: The human renal sodium sulfate cotransporter (SLC13A1; hNaSi-1) cDNA and gene: organization, chromosomal localization, and functional characterization. Genomics. 2000 Dec 15;70(3):354-63. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
|
| Enzyme 64 Metabolite References |
Not Available |
|
Enzyme 65
[top]
|
| Enzyme 65 ID |
8549 |
| Enzyme 65 Name |
Pendrin |
| Enzyme 65 Synonyms |
- Sodium-independent chloride/iodide transporter
- Solute carrier family 26 member 4
|
| Enzyme 65 Gene Name |
SLC26A4 |
| Enzyme 65 Protein Sequence |
>Pendrin
MAAPGGRSEPPQLPEYSCSYMVSRPVYSELAFQQQHERRLQERKTLRESLAKCCSCSRKR
AFGVLKTLVPILEWLPKYRVKEWLLSDVISGVSTGLVATLQGMAYALLAAVPVGYGLYSA
FFPILTYFIFGTSRHISVGPFPVVSLMVGSVVLSMAPDEHFLVSSSNGTVLNTTMIDTAA
RDTARVLIASALTLLVGIIQLIFGGLQIGFIVRYLADPLVGGFTTAAAFQVLVSQLKIVL
NVSTKNYNGVLSIIYTLVEIFQNIGDTNLADFTAGLLTIVVCMAVKELNDRFRHKIPVPI
PIEVIVTIIATAISYGANLEKNYNAGIVKSIPRGFLPPELPPVSLFSEMLAASFSIAVVA
YAIAVSVGKVYATKYDYTIDGNQEFIAFGISNIFSGFFSCFVATTALSRTAVQESTGGKT
QVAGIISAAIVMIAILALGKLLEPLQKSVLAAVVIANLKGMFMQLCDIPRLWRQNKIDAV
IWVFTCIVSIILGLDLGLLAGLIFGLLTVVLRVQFPSWNGLGSIPSTDIYKSTKNYKNIE
EPQGVKILRFSSPIFYGNVDGFKKCIKSTVGFDAIRVYNKRLKALRKIQKLIKSGQLRAT
KNGIISDAVSTNNAFEPDEDIEDLEELDIPTKEIEIQVDWNSELPVKVNVPKVPIHSLVL
DCGAISFLDVVGVRSLRVIVKEFQRIDVNVYFASLQDYVIEKLEQCGFFDDNIRKDTFFL
TVHDAILYLQNQVKSQEGQGSILETITLIQDCKDTLELIETELTEEELDVQDEAMRTLAS
|
| Enzyme 65 Number of Residues |
780 |
| Enzyme 65 Molecular Weight |
85722.2 |
| Enzyme 65 Theoretical pI |
6.29 |
| Enzyme 65 GO Classification |
| Function |
- anion transmembrane transporter activity
- inorganic anion transmembrane transporter activity
- ion transmembrane transporter activity
- secondary active sulfate transmembrane transporter activity
- substrate-specific transmembrane transporter activity
- sulfate transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- anion transport
- establishment of localization
- inorganic anion transport
- ion transport
- sulfate transport
- transmembrane transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 65 General Function |
Involved in secondary active sulfate transmembrane transporter activity |
| Enzyme 65 Specific Function |
Sodium-independent transporter of chloride and iodide |
| Enzyme 65 Pathways |
Not Available |
| Enzyme 65 Reactions |
Not Available |
| Enzyme 65 Pfam Domain Function |
|
| Enzyme 65 Signals |
|
| Enzyme 65 Transmembrane Regions |
- 110-130
136-156
192-212
264-284
296-316
345-365
385-405
422-442
449-469
487-507
653-673
|
| Enzyme 65 Essentiality |
Not Available |
| Enzyme 65 GenBank ID Protein |
4505697  |
| Enzyme 65 UniProtKB/Swiss-Prot ID |
O43511  |
| Enzyme 65 UniProtKB/Swiss-Prot Entry Name |
S26A4_HUMAN  |
| Enzyme 65 PDB ID |
Not Available |
| Enzyme 65 Cellular Location |
Not Available |
| Enzyme 65 Gene Sequence |
>2343 bp
ATGGCAGCGCCAGGCGGCAGGTCGGAGCCGCCGCAGCTCCCCGAGTACAGCTGCAGCTAC
ATGGTGTCGCGGCCGGTCTACAGCGAGCTCGCTTTCCAGCAACAGCACGAGCGGCGCCTG
CAGGAGCGCAAGACGCTGCGGGAGAGCCTGGCCAAGTGCTGCAGTTGTTCAAGAAAGAGA
GCCTTTGGTGTGCTAAAGACTCTTGTGCCCATCTTGGAGTGGCTCCCCAAATACCGAGTC
AAGGAATGGCTGCTTAGTGACGTCATTTCGGGAGTTAGTACTGGGCTAGTGGCCACGCTG
CAAGGGATGGCATATGCCCTACTAGCTGCAGTTCCTGTCGGATATGGTCTCTACTCTGCT
TTTTTCCCTATCCTGACATACTTTATCTTTGGAACATCAAGACATATCTCAGTTGGACCT
TTTCCAGTGGTGAGTTTAATGGTGGGATCTGTTGTTCTGAGCATGGCCCCCGACGAACAC
TTTCTCGTATCCAGCAGCAATGGAACTGTATTAAATACTACTATGATAGACACTGCAGCT
AGAGATACAGCTAGAGTCCTGATTGCCAGTGCCCTGACTCTGCTGGTTGGAATTATACAG
TTGATATTTGGTGGCTTGCAGATTGGATTCATAGTGAGGTACTTGGCAGATCCTTTGGTT
GGTGGCTTCACAACAGCTGCTGCCTTCCAAGTGCTGGTCTCACAGCTAAAGATTGTCCTC
AATGTTTCAACCAAAAACTACAATGGAGTTCTCTCTATTATCTATACGCTGGTTGAGATT
TTTCAAAATATTGGTGATACCAATCTTGCTGATTTCACTGCTGGATTGCTCACCATTGTC
GTCTGTATGGCAGTTAAGGAATTAAATGATCGGTTTAGACACAAAATCCCAGTCCCTATT
CCTATAGAAGTAATTGTGACGATAATTGCTACTGCCATTTCATATGGAGCCAACCTGGAA
AAAAATTACAATGCTGGCATTGTTAAATCCATCCCAAGGGGGTTTTTGCCTCCTGAACTT
CCACCTGTGAGCTTGTTCTCGGAGATGCTGGCTGCATCATTTTCCATCGCTGTGGTGGCT
TATGCTATTGCAGTGTCAGTAGGAAAAGTATATGCCACCAAGTATGATTACACCATCGAT
GGGAACCAGGAATTCATTGCCTTTGGGATCAGCAACATCTTCTCAGGATTCTTCTCTTGT
TTTGTGGCCACCACTGCTCTTTCCCGCACGGCCGTCCAGGAGAGCACTGGAGGAAAGACA
CAGGTTGCTGGCATCATCTCTGCTGCGATTGTGATGATCGCCATTCTTGCCCTGGGGAAG
CTTCTGGAACCCTTGCAGAAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGG
ATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTT
ATCTGGGTGTTTACGTGTATAGTGTCCATCATTCTGGGGCTGGATCTCGGTTTACTAGCT
GGCCTTATATTTGGACTGTTGACTGTGGTCCTGAGAGTTCAGTTTCCTTCTTGGAATGGC
CTTGGAAGCATCCCTAGCACAGATATCTACAAAAGTACCAAGAATTACAAAAACATTGAA
GAACCTCAAGGAGTGAAGATTCTTAGATTTTCCAGTCCTATTTTCTATGGCAATGTCGAT
GGTTTTAAAAAATGTATCAAGTCCACAGTTGGATTTGATGCCATTAGAGTATATAATAAG
AGGCTGAAAGCGCTGAGGAAAATACAGAAACTAATAAAAAGTGGACAATTAAGAGCAACA
AAGAATGGCATCATAAGTGATGCTGTTTCAACAAATAATGCTTTTGAGCCTGATGAGGAT
ATTGAAGATCTGGAGGAACTTGATATCCCAACCAAGGAAATAGAGATTCAAGTGGATTGG
AACTCTGAGCTTCCAGTCAAAGTGAACGTTCCCAAAGTGCCAATCCATAGCCTTGTGCTT
GACTGTGGAGCTATATCTTTCCTGGACGTTGTTGGAGTGAGATCACTGCGGGTGATTGTC
AAAGAATTCCAAAGAATTGATGTGAATGTGTATTTTGCATCACTTCAAGATTATGTGATA
GAAAAGCTGGAGCAATGCGGGTTCTTTGACGACAACATTAGAAAGGACACATTCTTTTTG
ACGGTCCATGATGCTATACTCTATCTACAGAACCAAGTGAAATCTCAAGAGGGTCAAGGT
TCCATTTTAGAAACGATCACTCTCATTCAGGATTGTAAAGATACCCTTGAATTAATAGAA
ACAGAGCTGACGGAAGAAGAACTTGATGTCCAGGATGAGGCTATGCGTACACTTGCATCC
TGA
|
| Enzyme 65 GenBank Gene ID |
NM_000441.1  |
| Enzyme 65 GeneCard ID |
SLC26A4  |
| Enzyme 65 GenAtlas ID |
SLC26A4  |
| Enzyme 65 HGNC ID |
HGNC:8818  |
| Enzyme 65 Chromosome Location |
7 |
| Enzyme 65 Locus |
7q31 |
| Enzyme 65 SNPs |
SNPJam Report  |
| Enzyme 65 General References |
- Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED: Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet. 1997 Dec;17(4):411-22. [PubMed
]
- Hillier LW, Fulton RS, Fulton LA, Graves TA, Pepin KH, Wagner-McPherson C, Layman D, Maas J, Jaeger S, Walker R, Wylie K, Sekhon M, Becker MC, O'Laughlin MD, Schaller ME, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Cordes M, Du H, Sun H, Edwards J, Bradshaw-Cordum H, Ali J, Andrews S, Isak A, Vanbrunt A, Nguyen C, Du F, Lamar B, Courtney L, Kalicki J, Ozersky P, Bielicki L, Scott K, Holmes A, Harkins R, Harris A, Strong CM, Hou S, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Leonard S, Rohlfing T, Rock SM, Tin-Wollam AM, Abbott A, Minx P, Maupin R, Strowmatt C, Latreille P, Miller N, Johnson D, Murray J, Woessner JP, Wendl MC, Yang SP, Schultz BR, Wallis JW, Spieth J, Bieri TA, Nelson JO, Berkowicz N, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Bedell JA, Mardis ER, Clifton SW, Chissoe SL, Marra MA, Raymond C, Haugen E, Gillett W, Zhou Y, James R, Phelps K, Iadanoto S, Bubb K, Simms E, Levy R, Clendenning J, Kaul R, Kent WJ, Furey TS, Baertsch RA, Brent MR, Keibler E, Flicek P, Bork P, Suyama M, Bailey JA, Portnoy ME, Torrents D, Chinwalla AT, Gish WR, Eddy SR, McPherson JD, Olson MV, Eichler EE, Green ED, Waterston RH, Wilson RK: The DNA sequence of human chromosome 7. Nature. 2003 Jul 10;424(6945):157-64. [PubMed
]
- Scott DA, Wang R, Kreman TM, Sheffield VC, Karniski LP: The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat Genet. 1999 Apr;21(4):440-3. [PubMed
]
- Van Hauwe P, Everett LA, Coucke P, Scott DA, Kraft ML, Ris-Stalpers C, Bolder C, Otten B, de Vijlder JJ, Dietrich NL, Ramesh A, Srisailapathy SC, Parving A, Cremers CW, Willems PJ, Smith RJ, Green ED, Van Camp G: Two frequent missense mutations in Pendred syndrome. Hum Mol Genet. 1998 Jul;7(7):1099-104. [PubMed
]
- Coyle B, Reardon W, Herbrick JA, Tsui LC, Gausden E, Lee J, Coffey R, Grueters A, Grossman4 A, Phelps PD, Luxon L, Kendall-Taylor P, Scherer SW, Trembath RC: Molecular analysis of the PDS gene in Pendred syndrome. Hum Mol Genet. 1998 Jul;7(7):1105-12. [PubMed
]
- Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER: A mutation in PDS causes non-syndromic recessive deafness. Nat Genet. 1998 Mar;18(3):215-7. [PubMed
]
- Usami S, Abe S, Weston MD, Shinkawa H, Van Camp G, Kimberling WJ: Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet. 1999 Feb;104(2):188-92. [PubMed
]
- Masmoudi S, Charfedine I, Hmani M, Grati M, Ghorbel AM, Elgaied-Boulila A, Drira M, Hardelin JP, Ayadi H: Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. Am J Med Genet. 2000 Jan 3;90(1):38-44. [PubMed
]
- Bogazzi F, Raggi F, Ultimieri F, Campomori A, Cosci C, Berrettini S, Neri E, La Rocca R, Ronca G, Martino E, Bartalena L: A novel mutation in the pendrin gene associated with Pendred's syndrome. Clin Endocrinol (Oxf). 2000 Mar;52(3):279-85. [PubMed
]
- Adato A, Raskin L, Petit C, Bonne-Tamir B: Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus. Eur J Hum Genet. 2000 Jun;8(6):437-42. [PubMed
]
- Reardon W, OMahoney CF, Trembath R, Jan H, Phelps PD: Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. QJM. 2000 Feb;93(2):99-104. [PubMed
]
- Gonzalez Trevino O, Karamanoglu Arseven O, Ceballos CJ, Vives VI, Ramirez RC, Gomez VV, Medeiros-Neto G, Kopp P: Clinical and molecular analysis of three Mexican families with Pendred's syndrome. Eur J Endocrinol. 2001 Jun;144(6):585-93. [PubMed
]
- Campbell C, Cucci RA, Prasad S, Green GE, Edeal JB, Galer CE, Karniski LP, Sheffield VC, Smith RJ: Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat. 2001 May;17(5):403-11. [PubMed
]
- Lopez-Bigas N, Melchionda S, de Cid R, Grifa A, Zelante L, Govea N, Arbones ML, Gasparini P, Estivill X: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. Hum Mutat. 2001 Dec;18(6):548. [PubMed
]
- Lopez-Bigas N, Melchionda S, de Cid R, Grifa A, Zelante L, Govea N, Arbones ML, Gasparini P, Estivill X: Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. Hum Mutat. 2002 Jul;20(1):77-8. [PubMed
]
- Taylor JP, Metcalfe RA, Watson PF, Weetman AP, Trembath RC: Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome. J Clin Endocrinol Metab. 2002 Apr;87(4):1778-84. [PubMed
]
- Fugazzola L, Cerutti N, Mannavola D, Crino A, Cassio A, Gasparoni P, Vannucchi G, Beck-Peccoz P: Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. Pediatr Res. 2002 Apr;51(4):479-84. [PubMed
]
- Tekin M, Akcayoz D, Comak E, Bogoclu G, Duman T, Fitoz S, Ilhan I, Akar N: Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey. Clin Genet. 2003 Oct;64(4):371-4. [PubMed
]
- Tsukamoto K, Suzuki H, Harada D, Namba A, Abe S, Usami S: Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. Eur J Hum Genet. 2003 Dec;11(12):916-22. [PubMed
]
- Borck G, Roth C, Martine U, Wildhardt G, Pohlenz J: Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation. J Clin Endocrinol Metab. 2003 Jun;88(6):2916-21. [PubMed
]
- Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Kim HN, Moon SK, Abe S, Tukamoto K, Riazuddin S, Kabra M, Erdenetungalag R, Radnaabazar J, Khan S, Pandya A, Usami SI, Nance WE, Wilcox ER, Riazuddin S, Griffith AJ: Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet. 2003 Apr;40(4):242-8. [PubMed
]
- Prasad S, Kolln KA, Cucci RA, Trembath RC, Van Camp G, Smith RJ: Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. Am J Med Genet A. 2004 Jan 1;124A(1):1-9. [PubMed
]
- Blons H, Feldmann D, Duval V, Messaz O, Denoyelle F, Loundon N, Sergout-Allaoui A, Houang M, Duriez F, Lacombe D, Delobel B, Leman J, Catros H, Journel H, Drouin-Garraud V, Obstoy MF, Toutain A, Oden S, Toublanc JE, Couderc R, Petit C, Garabedian EN, Marlin S: Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. Clin Genet. 2004 Oct;66(4):333-40. [PubMed
]
- Napiontek U, Borck G, Muller-Forell W, Pfarr N, Bohnert A, Keilmann A, Pohlenz J: Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene. J Clin Endocrinol Metab. 2004 Nov;89(11):5347-51. [PubMed
]
- Pryor SP, Madeo AC, Reynolds JC, Sarlis NJ, Arnos KS, Nance WE, Yang Y, Zalewski CK, Brewer CC, Butman JA, Griffith AJ: SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. J Med Genet. 2005 Feb;42(2):159-65. [PubMed
]
- Pfarr N, Borck G, Turk A, Napiontek U, Keilmann A, Muller-Forell W, Kopp P, Pohlenz J: Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes. J Clin Endocrinol Metab. 2006 Jul;91(7):2678-81. Epub 2006 May 9. [PubMed
]
- Choi BY, Stewart AK, Madeo AC, Pryor SP, Lenhard S, Kittles R, Eisenman D, Kim HJ, Niparko J, Thomsen J, Arnos KS, Nance WE, King KA, Zalewski CK, Brewer CC, Shawker T, Reynolds JC, Butman JA, Karniski LP, Alper SL, Griffith AJ: Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? Hum Mutat. 2009 Apr;30(4):599-608. [PubMed
]
|
| Enzyme 65 Metabolite References |
Not Available |
|
Enzyme 66
[top]
|
| Enzyme 66 ID |
8553 |
| Enzyme 66 Name |
Solute carrier family 12 member 1 |
| Enzyme 66 Synonyms |
- Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2
- Kidney-specific Na-K-Cl symporter
|
| Enzyme 66 Gene Name |
SLC12A1 |
| Enzyme 66 Protein Sequence |
>Solute carrier family 12 member 1
MSLNNSSNVFLDSVPSNTNRFQVSVINENHESSAAADDNTDPPHYEETSFGDEAQKRLRI
SFRPGNQECYDNFLQSGETAKTDASFHAYDSHTNTYYLQTFGHNTMDAVPKIEYYRNTGS
ISGPKVNRPSLLEIHEQLAKNVAVTPSSADRVANGDGIPGDEQAENKEDDQAGVVKFGWV
KGVLVRCMLNIWGVMLFIRLSWIVGEAGIGLGVLIILLSTMVTSITGLSTSAIATNGFVR
GGGAYYLISRSLGPEFGGSIGLIFAFANAVAVAMYVVGFAETVVDLLKESDSMMVDPTND
IRIIGSITVVILLGISVAGMEWEAKAQVILLVILLIAIANFFIGTVIPSNNEKKSRGFFN
YQASIFAENFGPRFTKGEGFFSVFAIFFPAATGILAGANISGDLEDPQDAIPRGTMLAIF
ITTVAYLGVAICVGACVVRDATGNMNDTIISGMNCNGSAACGLGYDFSRCRHEPCQYGLM
NNFQVMSMVSGFGPLITAGIFSATLSSALASLVSAPKVFQALCKDNIYKALQFFAKGYGK
NNEPLRGYILTFLIAMAFILIAELNTIAPIISNFFLASYALINFSCFHASYAKSPGWRPA
YGIYNMWVSLFGAVLCCAVMFVINWWAAVITYVIEFFLYVYVTCKKPDVNWGSSTQALSY
VSALDNALELTTVEDHVKNFRPQCIVLTGGPMTRPALLDITHAFTKNSGLCICCEVFVGP
RKLCVKEMNSGMAKKQAWLIKNKIKAFYAAVAADCFRDGVRSLLQASGLGRMKPNTLVIG
YKKNWRKAPLTEIENYVGIIHDAFDFEIGVVIVRISQGFDISQVLQVQEELERLEQERLA
LEATIKDNECEEESGGIRGLFKKAGKLNITKTTPKKDGSINTSQSMHVGEFNQKLVEAST
QFKKKQEKGTIDVWWLFDDGGLTLLIPYILTLRKKWKDCKLRIYVGGKINRIEEEKIVMA
SLLSKFRIKFADIHIIGDINIRPNKESWKVFEEMIEPYRLHESCKDLTTAEKLKRETPWK
ITDAELEAVKEKSYRQVRLNELLQEHSRAANLIVLSLPVARKGSISDLLYMAWLEILTKN
LPPVLLVRGNHKNVLTFYS
|
| Enzyme 66 Number of Residues |
1099 |
| Enzyme 66 Molecular Weight |
121449.1 |
| Enzyme 66 Theoretical pI |
7.41 |
| Enzyme 66 GO Classification |
| Function |
- anion transmembrane transporter activity
- anion:cation symporter activity
- cation:chloride symporter activity
- ion transmembrane transporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- anion transport
- cation transport
- chloride transport
- establishment of localization
- inorganic anion transport
- ion transport
- monovalent inorganic cation transport
- sodium ion transport
- transmembrane transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 66 General Function |
Involved in transport |
| Enzyme 66 Specific Function |
Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume |
| Enzyme 66 Pathways |
Not Available |
| Enzyme 66 Reactions |
Not Available |
| Enzyme 66 Pfam Domain Function |
|
| Enzyme 66 Signals |
|
| Enzyme 66 Transmembrane Regions |
- 178-198
202-222
260-280
303-323
328-348
380-400
418-438
485-505
551-571
572-592
610-630
793-813
|
| Enzyme 66 Essentiality |
Not Available |
| Enzyme 66 GenBank ID Protein |
134254459  |
| Enzyme 66 UniProtKB/Swiss-Prot ID |
Q13621  |
| Enzyme 66 UniProtKB/Swiss-Prot Entry Name |
S12A1_HUMAN  |
| Enzyme 66 PDB ID |
Not Available |
| Enzyme 66 Cellular Location |
Not Available |
| Enzyme 66 Gene Sequence |
>3300 bp
ATGTCACTGAACAACTCTTCCAATGTATTTCTGGATTCAGTGCCCAGTAATACCAATCGC
TTTCAAGTTAGTGTCATAAATGAGAACCATGAGAGCAGTGCAGCTGCAGATGACAATACT
GACCCACCACATTATGAAGAAACCTCTTTTGGGGATGAAGCTCAGAAAAGACTCAGAATC
AGCTTTAGGCCTGGGAATCAGGAGTGCTATGACAATTTCCTCCAAAGTGGAGAAACTGCT
AAAACAGATGCCAGTTTTCACGCTTATGATTCTCACACAAACACATACTATCTACAAACT
TTTGGCCACAACACCATGGATGCCGTTCCCAAGATAGAGTACTATCGTAACACCGGCAGC
ATCAGTGGGCCCAAGGTCAACCGACCCAGCCTGCTTGAGATTCACGAGCAACTCGCAAAG
AATGTGGCAGTCACCCCAAGTTCAGCTGACAGAGTTGCTAACGGTGATGGGATACCTGGA
GATGAACAAGCTGAAAATAAGGAAGATGATCAAGCTGGTGTTGTGAAGTTTGGATGGGTG
AAAGGTGTGCTGGTAAGATGCATGCTGAACATCTGGGGAGTCATGCTCTTCATTCGCCTC
TCCTGGATTGTTGGAGAAGCTGGAATTGGTCTTGGAGTTCTCATAATTCTTCTTTCCACC
ATGGTAACTTCTATTACTGGGTTGTCAACTTCTGCGATAGCAACTAACGGGTTTGTTCGT
GGAGGTGGGGCCTACTATCTTATTTCCAGAAGTTTAGGGCCCGAGTTCGGTGGGTCAATA
GGCCTGATCTTTGCTTTTGCTAATGCAGTGGCTGTTGCTATGTATGTGGTGGGATTTGCT
GAGACTGTAGTAGATCTTCTTAAGGAGAGTGATTCGATGATGGTGGATCCAACCAATGAC
ATCCGGATTATAGGCTCCATCACAGTGGTGATTCTTCTAGGAATTTCAGTAGCTGGAATG
GAATGGGAGGCAAAGGCCCAAGTCATTCTTCTGGTCATTCTTCTAATTGCTATTGCAAAC
TTCTTCATTGGAACTGTCATTCCATCCAACAATGAGAAAAAGTCCAGAGGTTTCTTTAAT
TACCAAGCATCAATATTTGCAGAAAACTTTGGGCCACGCTTCACAAAGGGTGAAGGCTTC
TTCTCTGTCTTTGCCATTTTTTTCCCAGCAGCTACTGGGATTCTTGCTGGTGCCAATATC
TCAGGAGATTTGGAGGATCCCCAAGATGCCATCCCCAGAGGAACCATGCTGGCCATTTTC
ATCACCACTGTTGCCTACTTAGGGGTTGCAATTTGTGTAGGGGCCTGTGTGGTCCGAGAT
GCCACCGGGAACATGAATGACACCATCATTTCTGGGATGAACTGCAATGGTTCAGCAGCA
TGTGGGTTGGGCTATGACTTCTCAAGATGTCGACATGAACCATGTCAGTACGGGCTGATG
AACAATTTCCAGGTCATGAGCATGGTATCAGGGTTCGGCCCCCTCATCACTGCGGGAATC
TTTTCTGCAACACTCTCCTCCGCCCTGGCCTCCCTTGTCAGCGCACCCAAAGTGTTCCAG
GCTCTGTGCAAGGACAACATCTACAAAGCCCTGCAGTTTTTTGCAAAGGGATATGGGAAA
AACAATGAACCCCTGAGAGGATATATTCTCACTTTTCTTATAGCCATGGCATTTATTCTT
ATTGCGGAACTGAACACCATTGCTCCCATCATCTCCAACTTTTTCCTGGCCTCATATGCA
CTTATTAATTTCTCCTGCTTCCATGCCTCTTATGCCAAATCTCCAGGATGGAGACCTGCG
TATGGAATTTACAACATGTGGGTATCTCTTTTTGGAGCTGTTTTGTGCTGTGCAGTCATG
TTTGTCATCAACTGGTGGGCAGCTGTCATCACCTATGTCATTGAATTCTTCCTTTACGTC
TATGTGACTTGTAAGAAGCCAGATGTGAACTGGGGCTCCTCCACACAGGCTCTTTCCTAC
GTGAGTGCTTTAGACAATGCTCTGGAATTAACCACAGTGGAAGACCACGTAAAAAACTTC
AGGCCCCAGTGCATTGTCTTAACAGGGGGACCCATGACAAGACCTGCTCTCCTGGACATA
ACTCACGCCTTTACCAAGAACAGTGGCCTTTGCATCTGCTGTGAAGTCTTTGTGGGACCG
CGCAAACTGTGTGTTAAGGAGATGAACAGTGGCATGGCGAAAAAACAGGCCTGGCTTATA
AAGAACAAAATCAAGGCTTTTTATGCTGCAGTGGCGGCAGACTGTTTCAGGGATGGTGTC
CGAAGTCTTCTTCAGGCCTCAGGCTTAGGAAGAATGAAACCAAACACTCTGGTGATTGGA
TATAAGAAAAACTGGAGGAAAGCTCCCTTGACAGAGATTGAGAACTACGTGGGAATCATA
CATGATGCATTTGATTTTGAGATTGGCGTGGTTATAGTCAGAATCAGCCAAGGATTTGAC
ATCTCTCAGGTTCTTCAGGTGCAAGAGGAATTAGAGAGATTAGAACAGGAGAGACTAGCA
TTGGAAGCGACTATCAAAGATAATGAGTGTGAAGAGGAAAGTGGAGGCATCCGAGGCTTG
TTTAAAAAAGCTGGCAAGTTGAACATTACTAAGACAACGCCTAAAAAAGATGGCAGCATT
AACACAAGCCAGTCGATGCATGTGGGAGAGTTCAACCAGAAACTGGTGGAAGCCAGCACT
CAATTTAAAAAGAAACAAGAAAAAGGCACAATTGATGTTTGGTGGTTGTTTGATGATGGA
GGGTTAACACTTCTTATCCCCTATATCTTAACTCTCAGAAAAAAATGGAAAGACTGTAAA
TTAAGAATCTATGTGGGAGGGAAGATCAACCGCATTGAAGAAGAAAAAATTGTAATGGCT
TCCCTTCTGAGCAAATTTAGGATAAAATTTGCAGACATCCATATCATCGGTGACATCAAC
ATTAGGCCAAACAAAGAGAGCTGGAAAGTCTTTGAAGAGATGATTGAACCATATCGTCTC
CATGAAAGCTGCAAAGATTTAACAACTGCTGAGAAATTAAAAAGAGAAACTCCGTGGAAA
ATTACAGATGCAGAACTGGAAGCAGTCAAGGAAAAGAGTTACCGCCAAGTTCGACTGAAT
GAACTCTTACAGGAGCACTCCAGAGCTGCTAATCTCATTGTCCTGAGCCTTCCCGTGGCA
AGAAAGGGATCCATATCGGATTTGTTGTATATGGCTTGGTTGGAAATCCTCACAAAGAAC
CTCCCACCTGTCTTACTAGTTAGAGGAAATCACAAAAATGTCTTGACATTTTACTCTTAA
|
| Enzyme 66 GenBank Gene ID |
NM_000338.2  |
| Enzyme 66 GeneCard ID |
SLC12A1  |
| Enzyme 66 GenAtlas ID |
SLC12A1  |
| Enzyme 66 HGNC ID |
HGNC:10910  |
| Enzyme 66 Chromosome Location |
1 |
| Enzyme 66 Locus |
15q15-q21.1 |
| Enzyme 66 SNPs |
SNPJam Report  |
| Enzyme 66 General References |
- Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP: Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet. 1996 Jun;13(2):183-8. [PubMed
]
- Zody MC, Garber M, Sharpe T, Young SK, Rowen L, O'Neill K, Whittaker CA, Kamal M, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Kodira CD, Madan A, Qin S, Yang X, Abbasi N, Abouelleil A, Arachchi HM, Baradarani L, Birditt B, Bloom S, Bloom T, Borowsky ML, Burke J, Butler J, Cook A, DeArellano K, DeCaprio D, Dorris L 3rd, Dors M, Eichler EE, Engels R, Fahey J, Fleetwood P, Friedman C, Gearin G, Hall JL, Hensley G, Johnson E, Jones C, Kamat A, Kaur A, Locke DP, Madan A, Munson G, Jaffe DB, Lui A, Macdonald P, Mauceli E, Naylor JW, Nesbitt R, Nicol R, O'Leary SB, Ratcliffe A, Rounsley S, She X, Sneddon KM, Stewart S, Sougnez C, Stone SM, Topham K, Vincent D, Wang S, Zimmer AR, Birren BW, Hood L, Lander ES, Nusbaum C: Analysis of the DNA sequence and duplication history of human chromosome 15. Nature. 2006 Mar 30;440(7084):671-5. [PubMed
]
|
| Enzyme 66 Metabolite References |
Not Available |
|
Enzyme 67
[top]
|
| Enzyme 67 ID |
8562 |
| Enzyme 67 Name |
Sodium-coupled neutral amino acid transporter 3 |
| Enzyme 67 Synonyms |
- N-system amino acid transporter 1
- Na(+)-coupled neutral amino acid transporter 3
- Solute carrier family 38 member 3
- System N amino acid transporter 1
|
| Enzyme 67 Gene Name |
SLC38A3 |
| Enzyme 67 Protein Sequence |
>Sodium-coupled neutral amino acid transporter 3
MEAPLQTEMVELVPNGKHSEGLLPVITPMAGNQRVEDPARSCMEGKSFLQKSPSKEPHFT
DFEGKTSFGMSVFNLSNAIMGSGILGLAYAMANTGIILFLFLLTAVALLSSYSIHLLLKS
SGVVGIRAYEQLGYRAFGTPGKLAAALAITLQNIGAMSSYLYIIKSELPLVIQTFLNLEE
KTSDWYMNGNYLVILVSVTIILPLALMRQLGYLGYSSGFSLSCMVFFLIAVIYKKFHVPC
PLPPNFNNTTGNFSHVEIVKEKVQLQVEPEASAFCTPSYFTLNSQTAYTIPIMAFAFVCH
PEVLPIYTELKDPSKKKMQHISNLSIAVMYIMYFLAALFGYLTFYNGVESELLHTYSKVD
PFDVLILCVRVAVLTAVTLTVPIVLFPVRRAIQQMLFPNQEFSWLRHVLIAVGLLTCINL
LVIFAPNILGIFGVIGATSAPFLIFIFPAIFYFRIMPTEKEPARSTPKILALCFAMLGFL
LMTMSLSFIIIDWASGTSRHGGNH
|
| Enzyme 67 Number of Residues |
504 |
| Enzyme 67 Molecular Weight |
55772.4 |
| Enzyme 67 Theoretical pI |
8.01 |
| Enzyme 67 GO Classification |
Not Available |
| Enzyme 67 General Function |
Amino acid transport and metabolism |
| Enzyme 67 Specific Function |
Sodium-dependent amino acid/proton antiporter. Mediates electrogenic cotransport of glutamine and sodium ions in exchange for protons. Also recognizes histidine, asparagine and alanine. May mediate amino acid transport in either direction under physiological conditions. May play a role in nitrogen metabolism and synaptic transmission |
| Enzyme 67 Pathways |
Not Available |
| Enzyme 67 Reactions |
Not Available |
| Enzyme 67 Pfam Domain Function |
|
| Enzyme 67 Signals |
|
| Enzyme 67 Transmembrane Regions |
- 83-103
106-126
144-164
187-207
213-233
324-344
366-386
408-428
431-451
471-491
|
| Enzyme 67 Essentiality |
Not Available |
| Enzyme 67 GenBank ID Protein |
5870893  |
| Enzyme 67 UniProtKB/Swiss-Prot ID |
Q99624  |
| Enzyme 67 UniProtKB/Swiss-Prot Entry Name |
S38A3_HUMAN  |
| Enzyme 67 PDB ID |
Not Available |
| Enzyme 67 Cellular Location |
Not Available |
| Enzyme 67 Gene Sequence |
>1515 bp
ATGGAGGCGCCTTTGCAGACAGAGATGGTGGAGCTGGTGCCCAATGGCAAACACTCAGAG
GGGCTGCTCCCGGTCATCACCCCCATGGCAGGCAACCAGAGGGTCGAGGACCCTGCACGG
AGCTGTATGGAGGGCAAGAGCTTCCTACAGAAAAGTCCCAGCAAGGAGCCACACTTCACT
GACTTCGAGGGGAAGACATCATTCGGGATGTCAGTGTTCAACCTCAGCAATGCCATCATG
GGCAGCGGCATCCTGGGACTCGCCTATGCCATGGCCAATACGGGCATTATCCTTTTCCTG
TTCCTGTTGACAGCTGTCGCCTTGCTCTCCAGCTACTCCATCCACCTGCTACTCAAGTCC
TCAGGGGTCGTGGGCATCCGTGCCTATGAGCAGCTGGGCTACCGTGCCTTTGGGACCCCA
GGAAAGCTGGCAGCAGCCCTGGCCATCACGCTCCAGAACATCGGAGCCATGTCCAGCTAC
CTGTACATCATCAAGTCTGAGCTGCCACTTGTCATACAGACCTTCCTGAACCTGGAGGAG
AAAACCTCGGACTGGTACATGAACGGGAACTACCTGGTAATCCTTGTCTCTGTCACCATC
ATTCTGCCCCTGGCACTGATGCGGCAGCTTGGCTACCTGGGCTACTCCAGCGGCTTCTCT
CTTAGCTGCATGGTGTTCTTCCTAATTGCAGTCATCTACAAAAAGTTCCACGTGCCCTGC
CCACTGCCCCCCAACTTCAACAACACCACAGGCAACTTCAGCCACGTGGAGATCGTGAAG
GAGAAGGTGCAGCTGCAGGTCGAGCCTGAGGCTTCAGCCTTCTGCACTCCCAGCTACTTC
ACGCTCAACTCACAGACAGCATACACCATCCCCATCATGGCCTTCGCCTTCGTCTGCCAC
CCCGAGGTGCTGCCCATCTATACTGAGCTCAAGGACCCCTCCAAGAAGAAGATGCAGCAC
ATCTCCAACCTGTCCATCGCTGTCATGTACATCATGTACTTCCTGGCTGCCCTCTTCGGC
TACCTCACCTTCTACAACGGGGTGGAGTCGGAGCTGCTGCACACCTACAGCAAGGTGGAC
CCGTTTGACGTCCTGATCCTGTGTGTGCGCGTGGCCGTGCTGACAGCAGTCACGCTCACA
GTGCCCATCGTTCTGTTCCCGGTGCGCCGCGCCATCCAGCAGATGCTGTTTCCAAACCAG
GAGTTCAGCTGGCTGCGGCATGTGCTTATTGCCGTTGGCCTGCTCACTTGTATCAACCTG
CTGGTCATCTTTGCCCCCAACATCCTGGGCATCTTTGGGGTCATCGGTGCCACATCTGCC
CCATTCCTCATCTTCATCTTCCCTGCCATCTTCTACTTCCGAATCATGCCCACGGAGAAG
GAGCCTGCAAGATCCACCCCCAAAATCCTGGCCCTGTGTTTTGCTATGCTTGGCTTCTTG
CTGATGACCATGAGCTTGAGCTTCATCATCATTGACTGGGCCTCAGGGACCAGCCGGCAT
GGAGGAAACCACTAG
|
| Enzyme 67 GenBank Gene ID |
NM_006841.4  |
| Enzyme 67 GeneCard ID |
SLC38A3  |
| Enzyme 67 GenAtlas ID |
SLC38A3  |
| Enzyme 67 HGNC ID |
HGNC:18044  |
| Enzyme 67 Chromosome Location |
3 |
| Enzyme 67 Locus |
3p21.3 |
| Enzyme 67 SNPs |
SNPJam Report  |
| Enzyme 67 General References |
- Fei YJ, Sugawara M, Nakanishi T, Huang W, Wang H, Prasad PD, Leibach FH, Ganapathy V: Primary structure, genomic organization, and functional and electrogenic characteristics of human system N 1, a Na+- and H+-coupled glutamine transporter. J Biol Chem. 2000 Aug 4;275(31):23707-17. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Bechtel S, Rosenfelder H, Duda A, Schmidt CP, Ernst U, Wellenreuther R, Mehrle A, Schuster C, Bahr A, Blocker H, Heubner D, Hoerlein A, Michel G, Wedler H, Kohrer K, Ottenwalder B, Poustka A, Wiemann S, Schupp I: The full-ORF clone resource of the German cDNA Consortium. BMC Genomics. 2007 Oct 31;8:399. [PubMed
]
- Muzny DM, Scherer SE, Kaul R, Wang J, Yu J, Sudbrak R, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes AC, Hernandez J, Hodgson AV, Hume J, Jackson A, Khan ZM, Kovar-Smith C, Lewis LR, Lozado RJ, Metzker ML, Milosavljevic A, Miner GR, Morgan MB, Nazareth LV, Scott G, Sodergren E, Song XZ, Steffen D, Wei S, Wheeler DA, Wright MW, Worley KC, Yuan Y, Zhang Z, Adams CQ, Ansari-Lari MA, Ayele M, Brown MJ, Chen G, Chen Z, Clendenning J, Clerc-Blankenburg KP, Chen R, Chen Z, Davis C, Delgado O, Dinh HH, Dong W, Draper H, Ernst S, Fu G, Gonzalez-Garay ML, Garcia DK, Gillett W, Gu J, Hao B, Haugen E, Havlak P, He X, Hennig S, Hu S, Huang W, Jackson LR, Jacob LS, Kelly SH, Kube M, Levy R, Li Z, Liu B, Liu J, Liu W, Lu J, Maheshwari M, Nguyen BV, Okwuonu GO, Palmeiri A, Pasternak S, Perez LM, Phelps KA, Plopper FJ, Qiang B, Raymond C, Rodriguez R, Saenphimmachak C, Santibanez J, Shen H, Shen Y, Subramanian S, Tabor PE, Verduzco D, Waldron L, Wang J, Wang J, Wang Q, Williams GA, Wong GK, Yao Z, Zhang J, Zhang X, Zhao G, Zhou J, Zhou Y, Nelson D, Lehrach H, Reinhardt R, Naylor SL, Yang H, Olson M, Weinstock G, Gibbs RA: The DNA sequence, annotation and analysis of human chromosome 3. Nature. 2006 Apr 27;440(7088):1194-8. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Lerman MI, Minna JD: The 630-kb lung cancer homozygous deletion region on human chromosome 3p21.3: identification and evaluation of the resident candidate tumor suppressor genes. The International Lung Cancer Chromosome 3p21.3 Tumor Suppressor Gene Consortium. Cancer Res. 2000 Nov 1;60(21):6116-33. [PubMed
]
|
| Enzyme 67 Metabolite References |
Not Available |
|
Enzyme 68
[top]
|
| Enzyme 68 ID |
8566 |
| Enzyme 68 Name |
Sodium-dependent phosphate transport protein 3 |
| Enzyme 68 Synonyms |
- Na(+)/PI cotransporter 3
- Sodium/phosphate cotransporter 3
- Solute carrier family 17 member 2
|
| Enzyme 68 Gene Name |
SLC17A2 |
| Enzyme 68 Protein Sequence |
>Sodium-dependent phosphate transport protein 3
MDGKPATRKGPDFCSLRYGLALIMHFSNFTMITQRVSLSIAIIAMVNTTQQQGLSNASTE
GPVADAFNNSSISIKEFDTKASVYQWSPETQGIIFSSINYGIILTLIPSGYLAGIFGAKK
MLGAGLLISSLLTLFTPLAADFGVILVIMVRTVQGMAQGMAWTGQFTIWAKWAPPLERSK
LTTIAGSGSAFGSFIILCVGGLISQALSWPFIFYIFGSTGCVCCLLWFTVIYDDPMHHPC
ISVREKEHILSSLAQQPSSPGRAVPIKAMVTCLPLWAIFLGFFSHFWLCTIILTYLPTYI
STLLHVNIRDSGVLSSLPFIAAASCTILGGQLADFLLSRNLLRLITVRKLFSSLGLLLPS
ICAVALPFVASSYVITIILLILIPGTSNLCDSGFIINTLDIAPRYASFLMGISRGFGLIA
GIISSTATGFLISQVGPVY
|
| Enzyme 68 Number of Residues |
439 |
| Enzyme 68 Molecular Weight |
47276.2 |
| Enzyme 68 Theoretical pI |
8.60 |
| Enzyme 68 GO Classification |
| Function |
| — |
| Process |
- establishment of localization
- transmembrane transport
- transport
|
| Component |
| — |
|
| Enzyme 68 General Function |
Involved in transmembrane transport |
| Enzyme 68 Specific Function |
May be involved in actively transporting phosphate into cells via Na(+) cotransport |
| Enzyme 68 Pathways |
Not Available |
| Enzyme 68 Reactions |
Not Available |
| Enzyme 68 Pfam Domain Function |
|
| Enzyme 68 Signals |
|
| Enzyme 68 Transmembrane Regions |
- 98-118
130-150
183-203
211-231
273-293
317-337
350-369
374-396
415-435
|
| Enzyme 68 Essentiality |
Not Available |
| Enzyme 68 GenBank ID Protein |
56204534  |
| Enzyme 68 UniProtKB/Swiss-Prot ID |
O00624  |
| Enzyme 68 UniProtKB/Swiss-Prot Entry Name |
NPT3_HUMAN  |
| Enzyme 68 PDB ID |
Not Available |
| Enzyme 68 Cellular Location |
Not Available |
| Enzyme 68 Gene Sequence |
>1320 bp
ATGGACGGGAAGCCTGCCACCAGGAAAGGTCCAGATTTCTGTTCATTACGCTATGGGCTG
GCTCTTATCATGCACTTCTCAAACTTCACCATGATAACGCAGCGTGTGAGTCTGAGCATT
GCGATCATCGCCATGGTGAACACCACTCAGCAGCAAGGTCTATCTAATGCCTCCACTGAG
GGGCCTGTTGCAGATGCCTTCAATAACTCCAGCATATCCATCAAGGAATTTGATACAAAG
GCCTCTGTGTATCAATGGAGCCCAGAAACTCAGGGTATCATCTTTAGCTCCATCAACTAT
GGGATAATACTGACTCTGATCCCAAGTGGATATTTAGCAGGGATATTTGGAGCAAAAAAA
ATGCTTGGTGCTGGTTTGCTGATCTCTTCCCTTCTCACCCTCTTTACACCACTGGCTGCT
GACTTCGGAGTGATTTTGGTCATCATGGTTCGGACAGTCCAGGGCATGGCCCAGGGAATG
GCATGGACAGGTCAGTTTACTATTTGGGCAAAGTGGGCTCCTCCACTTGAACGAAGCAAG
CTCACCACCATTGCAGGATCAGGGTCAGCATTTGGATCCTTCATCATCCTCTGTGTGGGG
GGACTAATCTCACAGGCCTTGAGCTGGCCTTTTATCTTCTACATCTTTGGTAGCACTGGC
TGTGTCTGCTGTCTCCTATGGTTCACAGTGATTTATGATGACCCCATGCATCACCCGTGC
ATAAGTGTTAGGGAAAAGGAGCACATCCTGTCCTCACTGGCTCAACAGCCCAGTTCTCCT
GGACGAGCTGTCCCCATAAAGGCGATGGTCACATGCCTACCACTTTGGGCCATTTTCCTG
GGTTTTTTCAGCCATTTCTGGTTGTGCACCATCATCCTAACATACCTACCAACGTATATC
AGTACTCTGCTCCATGTTAACATCAGAGATAGTGGAGTTCTGTCCTCCCTGCCTTTTATT
GCTGCTGCAAGCTGTACAATTTTAGGAGGTCAGCTGGCAGATTTCCTTTTGTCCAGGAAT
CTTCTCAGATTGATCACTGTGCGAAAGCTCTTTTCATCTCTTGGGCTCCTCCTTCCATCA
ATATGTGCTGTGGCCCTGCCCTTTGTGGCCTCCAGTTACGTGATAACCATTATTTTGCTG
ATACTTATTCCTGGGACCAGTAACCTATGTGACTCAGGGTTTATCATCAACACCTTAGAT
ATCGCCCCCAGATATGCAAGTTTCCTCATGGGAATCTCAAGGGGATTTGGGCTCATCGCA
GGAATCATCTCTTCCACTGCCACTGGATTCCTCATCAGTCAGGTTGGGCCAGTTTATTGA
|
| Enzyme 68 GenBank Gene ID |
AL138726  |
| Enzyme 68 GeneCard ID |
SLC17A2  |
| Enzyme 68 GenAtlas ID |
SLC17A2  |
| Enzyme 68 HGNC ID |
HGNC:10930  |
| Enzyme 68 Chromosome Location |
6 |
| Enzyme 68 Locus |
6p21.3 |
| Enzyme 68 SNPs |
SNPJam Report  |
| Enzyme 68 General References |
- Ruddy DA, Kronmal GS, Lee VK, Mintier GA, Quintana L, Domingo R Jr, Meyer NC, Irrinki A, McClelland EE, Fullan A, Mapa FA, Moore T, Thomas W, Loeb DB, Harmon C, Tsuchihashi Z, Wolff RK, Schatzman RC, Feder JN: A 1.1-Mb transcript map of the hereditary hemochromatosis locus. Genome Res. 1997 May;7(5):441-56. [PubMed
]
- Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L, Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J, Beck S: The DNA sequence and analysis of human chromosome 6. Nature. 2003 Oct 23;425(6960):805-11. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
|
| Enzyme 68 Metabolite References |
Not Available |
|
Enzyme 69
[top]
|
| Enzyme 69 ID |
8576 |
| Enzyme 69 Name |
Sodium/hydrogen exchanger 5 |
| Enzyme 69 Synonyms |
- Na(+)/H(+) exchanger 5
- NHE-5
- Solute carrier family 9 member 5
|
| Enzyme 69 Gene Name |
SLC9A5 |
| Enzyme 69 Protein Sequence |
>Sodium/hydrogen exchanger 5
MLRAALSLLALPLAGAAEEPTQKPESPGEPPPGLELFRWQWHEVEAPYLVALWILVASLA
KIVFHLSRKVTSLVPESCLLILLGLVLGGIVLAVAKKAEYQLEPGTFFLFLLPPIVLDSG
YFMPSRLFFDNLGAILTYAVVGTLWNAFTTGAALWGLQQAGLVAPRVQAGLLDFLLFGSL
ISAVDPVAVLAVFEEVHVNETLFIIVFGESLLNDAVTVVLYKVCNSFVEMGSANVQATDY
LKGVASLFVVSLGGAAVGLVFAFLLALTTRFTKRVRIIEPLLVFLLAYAAYLTAEMASLS
AILAVTMCGLGCKKYVEANISHKSRTTVKYTMKTLASCAETVIFMLLGISAVDSSKWAWD
SGLVLGTLIFILFFRALGVVLQTWVLNQFRLVPLDKIDQVVMSYGGLRGAVAFALVILLD
RTKVPAKDYFVATTIVVVFFTVIVQGLTIKPLVKWLKVKRSEHHKPTLNQELHEHTFDHI
LAAVEDVVGHHGYHYWRDRWEQFDKKYLSQLLMRRSAYRIRDQIWDVYYRLNIRDAISFV
DQGGHVLSSTGLTLPSMPSRNSVAETSVTNLLRESGSGACLDLQVIDTVRSGRDREDAVM
HHLLCGGLYKPRRRYKASCSRHFISEDAQERQDKEVFQQNMKRRLESFKSTKHNICFTKS
KPRPRKTGRRKKDGVANAEATNGKHRGLGFQDTAAVILTVESEEEEEESDSSETEKEDDE
GIIFVARATSEVLQEGKVSGSLEVCPSPRIIPPSPTCAEKELPWKSGQGDLAVYVSSETT
KIVPVDMQTGWNQSISSLESLASPPCNQAPILTCLPPHPRGTEEPQVPLHLPSDPRSSFA
FPPSLAKAGRSRSESSADLPQQQELQPLMGHKDHTHLSPGTATSHWCIQFNRGSRL
|
| Enzyme 69 Number of Residues |
896 |
| Enzyme 69 Molecular Weight |
99010.5 |
| Enzyme 69 Theoretical pI |
7.61 |
| Enzyme 69 GO Classification |
| Function |
- cation transmembrane transporter activity
- hydrogen ion transmembrane transporter activity
- inorganic cation transmembrane transporter activity
- ion transmembrane transporter activity
- monovalent cation:hydrogen antiporter activity
- monovalent inorganic cation transmembrane transporter activity
- sodium:hydrogen antiporter activity
- solute:cation antiporter activity
- solute:hydrogen antiporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- biological regulation
- cation homeostasis
- cation transport
- chemical homeostasis
- establishment of localization
- homeostatic process
- ion homeostasis
- ion transport
- monovalent inorganic cation homeostasis
- monovalent inorganic cation transport
- regulation of biological quality
- regulation of pH
- sodium ion transport
- transmembrane transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane part
|
|
| Enzyme 69 General Function |
Inorganic ion transport and metabolism |
| Enzyme 69 Specific Function |
Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction |
| Enzyme 69 Pathways |
Not Available |
| Enzyme 69 Reactions |
Not Available |
| Enzyme 69 Pfam Domain Function |
|
| Enzyme 69 Signals |
|
| Enzyme 69 Transmembrane Regions |
- 46-66
74-94
104-124
135-155
174-194
201-221
247-267
277-297
332-352
361-381
399-419
429-449
|
| Enzyme 69 Essentiality |
Not Available |
| Enzyme 69 GenBank ID Protein |
4071359  |
| Enzyme 69 UniProtKB/Swiss-Prot ID |
Q14940  |
| Enzyme 69 UniProtKB/Swiss-Prot Entry Name |
SL9A5_HUMAN  |
| Enzyme 69 PDB ID |
Not Available |
| Enzyme 69 Cellular Location |
Not Available |
| Enzyme 69 Gene Sequence |
>2691 bp
ATGCTGCGCGCCGCCCTGTCCCTGCTCGCGCTGCCCCTGGCGGGGGCGGCCGAAGAGCCC
ACCCAGAAGCCAGAGTCCCCGGGCGAGCCTCCCCCAGGCTTAGAGCTCTTCCGCTGGCAG
TGGCACGAGGTGGAGGCGCCCTACCTGGTGGCCCTGTGGATCCTGGTGGCCAGTCTGGCC
AAAATCGTGTTTCACCTGTCTCGGAAAGTAACATCTCTGGTCCCTGAGAGCTGCCTGCTG
ATTTTGCTGGGCCTGGTGCTAGGGGGAATTGTTTTGGCTGTGGCCAAGAAAGCTGAGTAC
CAGCTGGAGCCAGGCACCTTCTTCCTCTTCCTGCTGCCTCCTATTGTGTTGGACTCAGGC
TATTTCATGCCTAGCAGGCTGTTCTTTGACAACTTGGGTGCCATCCTCACCTATGCCGTG
GTAGGCACACTCTGGAATGCCTTCACAACAGGCGCTGCCCTCTGGGGCTTGCAGCAGGCT
GGACTTGTAGCCCCTAGGGTGCAGGCTGGCTTACTGGACTTCCTGCTGTTTGGGAGCCTC
ATCTCGGCGGTGGACCCCGTGGCCGTGCTAGCTGTCTTTGAGGAGGTGCACGTCAATGAG
ACTCTCTTTATCATCGTCTTTGGCGAGTCCCTGCTCAACGATGCTGTCACCGTGGTGCTG
TACAAGGTCTGCAACTCCTTTGTGGAGATGGGCTCTGCCAATGTGCAGGCCACTGACTAC
CTGAAGGGAGTCGCCTCCCTGTTTGTGGTCAGTCTGGGCGGGGCAGCCGTGGGCTTAGTC
TTTGCCTTCCTCCTGGCCCTGACCACACGCTTCACCAAGCGGGTCCGCATCATCGAGCCG
CTGCTGGTCTTCCTCCTCGCCTACGCAGCCTACCTCACTGCTGAAATGGCCTCGCTCTCC
GCCATTCTTGCGGTGACCATGTGTGGCCTGGGCTGTAAGAAGTACGTGGAGGCCAACATC
TCCCATAAGTCACGCACAACTGTCAAATATACAATGAAGACTCTAGCCAGCTGTGCTGAG
ACCGTGATCTTCATGCTGCTTGGCATCTCAGCCGTGGACTCTTCTAAGTGGGCCTGGGAT
TCTGGGCTGGTGCTGGGCACCCTCATCTTCATCCTGTTCTTCCGAGCCCTCGGCGTAGTC
CTGCAGACCTGGGTGCTGAATCAGTTCCGGCTAGTCCCTCTGGACAAGATTGACCAAGTG
GTGATGTCCTATGGGGGCCTGCGGGGGGCTGTGGCCTTTGCTCTCGTCATCCTACTGGAT
AGGACCAAGGTCCCTGCCAAGGACTACTTTGTAGCCACCACTATTGTAGTGGTCTTCTTC
ACAGTCATCGTGCAGGGCTTGACCATCAAGCCACTGGTCAAATGGCTGAAGGTGAAGAGG
AGTGAGCATCACAAACCCACCCTGAACCAGGAGCTGCATGAACACACTTTTGACCACATT
CTGGCTGCAGTGGAGGACGTTGTGGGGCACCATGGCTACCACTACTGGAGGGACAGGTGG
GAGCAGTTTGACAAGAAATACCTGAGTCAGCTGCTGATGCGACGATCAGCCTACCGCATC
CGGGACCAGATCTGGGATGTGTACTACAGGCTTAACATCCGGGATGCCATCAGCTTTGTG
GACCAGGGAGGCCACGTCTTGTCTTCCACAGGTCTCACTCTGCCTTCTATGCCCAGCCGC
AATTCTGTGGCAGAAACTTCTGTCACCAACCTGCTGAGGGAGAGTGGCAGTGGAGCGTGT
CTGGATCTGCAGGTGATTGACACAGTACGCAGCGGCCGGGATCGTGAGGATGCTGTGATG
CATCATCTGCTCTGCGGAGGCCTCTACAAGCCGCGCCGTAGGTACAAAGCCAGCTGCAGT
CGCCACTTCATCTCAGAGGATGCGCAGGAGCGGCAGGACAAGGAGGTCTTCCAGCAGAAC
ATGAAGCGGCGGCTGGAGTCCTTTAAGTCCACCAAGCACAACATCTGCTTCACCAAGAGC
AAGCCACGACCCCGCAAGACTGGCCGCAGGAAGAAGGATGGTGTGGCGAATGCTGAGGCT
ACAAATGGGAAACATCGAGGCCTGGGCTTTCAGGACACAGCTGCTGTGATATTAACCGTG
GAGTCTGAGGAGGAGGAGGAGGAGAGCGACAGTTCAGAGACAGAGAAGGAGGACGATGAG
GGGATCATCTTTGTGGCTCGTGCCACCAGTGAGGTTCTCCAAGAGGGCAAGGTCTCAGGA
AGCCTTGAGGTGTGCCCAAGCCCACGAATCATTCCCCCCTCCCCAACCTGTGCAGAAAAG
GAGCTCCCCTGGAAGAGTGGGCAGGGGGACCTGGCAGTGTACGTGTCCTCGGAAACCACC
AAGATTGTGCCTGTGGACATGCAGACGGGTTGGAACCAGAGCATCTCATCCCTGGAGAGC
CTAGCGTCCCCTCCCTGTAACCAGGCCCCAATTCTGACCTGCCTGCCTCCCCATCCACGG
GGCACTGAAGAGCCCCAGGTCCCTCTCCACCTACCTTCTGATCCACGCTCTAGCTTCGCC
TTCCCACCGAGCCTGGCCAAGGCTGGCCGCTCTCGCAGTGAGAGCAGCGCTGACCTCCCC
CAGCAGCAGGAGCTGCAGCCCCTCATGGGCCACAAGGACCACACCCATCTCAGCCCAGGC
ACCGCTACCTCCCACTGGTGCATCCAGTTCAACAGAGGCAGCCGGCTGTAG
|
| Enzyme 69 GenBank Gene ID |
AF111173  |
| Enzyme 69 GeneCard ID |
SLC9A5  |
| Enzyme 69 GenAtlas ID |
Not Available |
| Enzyme 69 HGNC ID |
Not Available |
| Enzyme 69 Chromosome Location |
1 |
| Enzyme 69 Locus |
16q22.1 |
| Enzyme 69 SNPs |
SNPJam Report  |
| Enzyme 69 General References |
- Baird NR, Orlowski J, Szabo EZ, Zaun HC, Schultheis PJ, Menon AG, Shull GE: Molecular cloning, genomic organization, and functional expression of Na+/H+ exchanger isoform 5 (NHE5) from human brain. J Biol Chem. 1999 Feb 12;274(7):4377-82. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Klanke CA, Su YR, Callen DF, Wang Z, Meneton P, Baird N, Kandasamy RA, Orlowski J, Otterud BE, Leppert M, et al.: Molecular cloning and physical and genetic mapping of a novel human Na+/H+ exchanger (NHE5/SLC9A5) to chromosome 16q22.1. Genomics. 1995 Feb 10;25(3):615-22. [PubMed
]
- Szabo EZ, Numata M, Lukashova V, Iannuzzi P, Orlowski J: beta-Arrestins bind and decrease cell-surface abundance of the Na+/H+ exchanger NHE5 isoform. Proc Natl Acad Sci U S A. 2005 Feb 22;102(8):2790-5. Epub 2005 Feb 7. [PubMed
]
|
| Enzyme 69 Metabolite References |
Not Available |
|
Enzyme 70
[top]
|
| Enzyme 70 ID |
8580 |
| Enzyme 70 Name |
Sodium/calcium exchanger 1 |
| Enzyme 70 Synonyms |
- Na(+)/Ca(2+)-exchange protein 1
|
| Enzyme 70 Gene Name |
SLC8A1 |
| Enzyme 70 Protein Sequence |
>Sodium/calcium exchanger 1
MYNMRRLSLSPTFSMGFHLLVTVSLLFSHVDHVIAETEMEGEGNETGECTGSYYCKKGVI
LPIWEPQDPSFGDKIARATVYFVAMVYMFLGVSIIADRFMSSIEVITSQEKEITIKKPNG
ETTKTTVRIWNETVSNLTLMALGSSAPEILLSVIEVCGHNFTAGDLGPSTIVGSAAFNMF
IIIALCVYVVPDGETRKIKHLRVFFVTAAWSIFAYTWLYIILSVISPGVVEVWEGLLTFF
FFPICVVFAWVADRRLLFYKYVYKRYRAGKQRGMIIEHEGDRPSSKTEIEMDGKVVNSHV
ENFLDGALVLEVDERDQDDEEARREMARILKELKQKHPDKEIEQLIELANYQVLSQQQKS
RAFYRIQATRLMTGAGNILKRHAADQARKAVSMHEVNTEVTENDPVSKIFFEQGTYQCLE
NCGTVALTIIRRGGDLTNTVFVDFRTEDGTANAGSDYEFTEGTVVFKPGDTQKEIRVGII
DDDIFEEDENFLVHLSNVKVSSEASEDGILEANHVSTLACLGSPSTATVTIFDDDHAGIF
TFEEPVTHVSESIGIMEVKVLRTSGARGNVIVPYKTIEGTARGGGEDFEDTCGELEFQND
EIVKTISVKVIDDEEYEKNKTFFLEIGEPRLVEMSEKKALLLNELGGFTITGKYLFGQPV
FRKVHAREHPILSTVITIADEYDDKQPLTSKEEEERRIAEMGRPILGEHTKLEVIIEESY
EFKSTVDKLIKKTNLALVVGTNSWREQFIEAITVSAGEDDDDDECGEEKLPSCFDYVMHF
LTVFWKVLFAFVPPTEYWNGWACFIVSILMIGLLTAFIGDLASHFGCTIGLKDSVTAVVF
VALGTSVPDTFASKVAATQDQYADASIGNVTGSNAVNVFLGIGVAWSIAAIYHAANGEQF
KVSPGTLAFSVTLFTIFAFINVGVLLYRRRPEIGGELGGPRTAKLLTSCLFVLLWLLYIF
FSSLEAYCHIKGF
|
| Enzyme 70 Number of Residues |
973 |
| Enzyme 70 Molecular Weight |
108546.1 |
| Enzyme 70 Theoretical pI |
4.64 |
| Enzyme 70 GO Classification |
| Function |
- binding
- calcium:cation antiporter activity
- calcium:sodium antiporter activity
- cation transmembrane transporter activity
- cation:cation antiporter activity
- heat shock protein binding
- ion transmembrane transporter activity
- protein binding
- solute:cation antiporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- calcium ion transport
- cation transport
- cell communication
- cellular process
- di-, tri-valent inorganic cation transport
- divalent metal ion transport
- establishment of localization
- ion transport
- transmembrane transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 70 General Function |
Involved in cell communication |
| Enzyme 70 Specific Function |
Rapidly transports Ca(2+) during excitation-contraction coupling. Ca(2+) is extruded from the cell during relaxation so as to prevent overloading of intracellular stores |
| Enzyme 70 Pathways |
Not Available |
| Enzyme 70 Reactions |
Not Available |
| Enzyme 70 Pfam Domain Function |
|
| Enzyme 70 Signals |
|
| Enzyme 70 Transmembrane Regions |
- 75-96
137-158
171-191
203-225
229-252
773-792
800-822
825-843
875-895
907-927
945-961
|
| Enzyme 70 Essentiality |
Not Available |
| Enzyme 70 GenBank ID Protein |
Not Available |
| Enzyme 70 UniProtKB/Swiss-Prot ID |
P32418  |
| Enzyme 70 UniProtKB/Swiss-Prot Entry Name |
NAC1_HUMAN  |
| Enzyme 70 PDB ID |
Not Available |
| Enzyme 70 Cellular Location |
Not Available |
| Enzyme 70 Gene Sequence |
>2922 bp
ATGTACAACATGCGGCGATTAAGTCTTTCACCCACCTTTTCAATGGGATTTCATCTGTTA
GTTACTGTGAGTCTCTTATTTTCCCATGTGGACCATGTAATTGCTGAGACAGAAATGGAA
GGAGAAGGAAATGAAACTGGTGAATGTACTGGATCATATTACTGTAAGAAAGGGGTGATT
TTGCCCATTTGGGAACCCCAAGACCCTTCTTTTGGGGACAAAATTGCTAGAGCTACTGTG
TATTTTGTGGCCATGGTCTACATGTTTCTTGGAGTCTCTATCATAGCTGATCGGTTCATG
TCCTCTATAGAAGTCATCACATCTCAAGAAAAAGAAATAACCATAAAGAAACCCAATGGA
GAGACCACCAAGACAACTGTGAGGATCTGGAATGAAACAGTTTCTAACCTGACCTTGATG
GCCCTGGGATCTTCTGCTCCTGAGATTCTCCTTTCAGTAATTGAAGTGTGTGGCCATAAC
TTCACTGCAGGAGACCTCGGTCCTAGCACCATCGTGGGAAGTGCTGCATTCAATATGTTC
ATCATTATTGCACTCTGTGTTTATGTGGTGCCTGACGGAGAGACAAGGAAGATTAAGCAT
TTGCGTGTCTTCTTTGTGACAGCAGCCTGGAGCATCTTTGCCTACACCTGGCTTTACATT
ATTTTGTCTGTCATATCTCCTGGTGTTGTGGAGGTCTGGGAAGGTTTGCTTACTTTCTTC
TTCTTTCCCATCTGTGTTGTGTTCGCTTGGGTAGCGGATAGGAGACTTCTGTTTTACAAG
TATGTCTACAAGAGGTATCGAGCTGGCAAGCAGAGGGGGATGATTATTGAACATGAAGGA
GACAGGCCATCTTCTAAGACTGAAATTGAAATGGACGGGAAAGTGGTCAATTCTCATGTT
GAAAATTTCTTAGATGGTGCTCTGGTTCTGGAGGTGGATGAGAGGGACCAAGATGATGAA
GAAGCTAGGCGAGAAATGGCTAGGATTCTGAAGGAACTTAAGCAGAAGCATCCAGATAAA
GAAATAGAGCAATTAATAGAATTAGCTAACTACCAAGTCCTAAGTCAGCAGCAAAAAAGT
AGAGCATTTTATCGCATTCAAGCTACTCGCCTCATGACTGGAGCTGGCAACATTTTAAAG
AGGCATGCAGCTGACCAAGCAAGGAAGGCTGTCAGCATGCACGAGGTCAACACTGAAGTG
ACTGAAAATGACCCTGTTAGTAAGATCTTCTTTGAACAAGGGACATATCAGTGTCTGGAG
AACTGTGGTACTGTGGCCCTTACCATTATCCGCAGAGGTGGTGATTTGACTAACACTGTG
TTTGTTGACTTCAGAACAGAGGATGGCACAGCAAATGCTGGGTCTGATTATGAATTTACT
GAAGGAACTGTGGTGTTTAAGCCTGGTGATACCCAGAAGGAAATCAGAGTGGGTATCATA
GATGATGATATCTTTGAGGAGGATGAAAATTTCCTTGTGCATCTCAGCAATGTCAAAGTA
TCTTCTGAAGCTTCAGAAGATGGCATACTGGAAGCCAATCATGTTTCTACACTTGCTTGC
CTCGGATCTCCCTCCACTGCCACTGTAACTATTTTTGATGATGACCACGCAGGCATTTTT
ACTTTTGAGGAACCTGTGACTCATGTGAGTGAGAGCATTGGCATCATGGAGGTGAAAGTA
TTGAGAACATCTGGAGCTCGAGGAAATGTTATCGTTCCATATAAAACCATCGAAGGGACT
GCCAGAGGTGGAGGGGAGGATTTTGAGGACACTTGTGGAGAGCTCGAATTCCAGAATGAT
GAAATTGTCAAAACAATATCAGTCAAGGTAATTGATGATGAGGAGTATGAGAAAAACAAG
ACCTTCTTCCTTGAGATTGGAGAGCCCCGCCTGGTGGAGATGAGTGAGAAGAAAGCCCTG
TTATTGAATGAGCTTGGTGGCTTCACAATAACAGGAAAATACCTGTTTGGCCAACCTGTC
TTCAGGAAGGTTCATGCTAGAGAACATCCGATTCTCTCTACTGTAATCACCATTGCAGAC
GAATATGATGACAAGCAGCCACTGACCAGCAAAGAGGAAGAGGAGAGGCGCATTGCAGAA
ATGGGGCGCCCCATCCTGGGAGAGCACACCAAGTTGGAAGTGATCATTGAAGAATCCTAT
GAATTCAAGAGTACTGTGGACAAACTCATTAAGAAGACAAACCTGGCCCTTGTGGTTGGG
ACTAACAGCTGGAGAGAACAGTTCATTGAAGCTATCACTGTCAGTGCTGGGGAAGATGAT
GACGACGATGAATGTGGGGAAGAGAAGCTGCCCTCCTGTTTCGATTACGTGATGCACTTT
CTGACTGTGTTCTGGAAGGTCCTGTTTGCCTTCGTCCCCCCTACTGAATACTGGAATGGC
TGGGCGTGTTTCATTGTCTCCATCCTCATGATTGGCCTACTGACAGCTTTCATTGGAGAC
CTGGCTTCCCACTTTGGCTGCACCATTGGCCTGAAAGATTCTGTGACTGCAGTCGTGTTC
GTCGCACTTGGAACATCAGTGCCAGACACATTTGCCAGCAAAGTGGCAGCCACCCAGGAC
CAGTATGCAGACGCCTCCATAGGTAACGTCACGGGCAGCAACGCGGTGAATGTCTTCCTG
GGAATCGGTGTGGCCTGGTCCATCGCTGCCATCTACCACGCAGCCAATGGGGAACAGTTC
AAAGTGTCCCCTGGCACACTAGCTTTCTCTGTCACTCTCTTCACCATTTTTGCTTTCATC
AATGTGGGGGTGCTGCTGTATCGGCGGAGGCCAGAAATCGGAGGTGAGCTGGGTGGGCCC
CGGACTGCCAAGCTCCTCACATCCTGCCTCTTTGTGCTCCTATGGCTCTTGTACATTTTC
TTCTCCTCCCTGGAGGCCTACTGCCACATAAAAGGCTTCTAA
|
| Enzyme 70 GenBank Gene ID |
M91368  |
| Enzyme 70 GeneCard ID |
SLC8A1  |
| Enzyme 70 GenAtlas ID |
SLC8A1  |
| Enzyme 70 HGNC ID |
HGNC:11068  |
| Enzyme 70 Chromosome Location |
2 |
| Enzyme 70 Locus |
2p23-p22 |
| Enzyme 70 SNPs |
SNPJam Report  |
| Enzyme 70 General References |
- Komuro I, Wenninger KE, Philipson KD, Izumo S: Molecular cloning and characterization of the human cardiac Na+/Ca2+ exchanger cDNA. Proc Natl Acad Sci U S A. 1992 May 15;89(10):4769-73. [PubMed
]
- Van Eylen F, Bollen A, Herchuelz A: NCX1 Na/Ca exchanger splice variants in pancreatic islet cells. J Endocrinol. 2001 Mar;168(3):517-26. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK: Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434(7034):724-31. [PubMed
]
- Lundquist P, Lundgren T, Gritli-Linde A, Linde A: Na+/Ca2+ exchanger isoforms of rat odontoblasts and osteoblasts. Calcif Tissue Int. 2000 Jul;67(1):60-7. [PubMed
]
- Loo TW, Clarke DM: Functional expression of human renal Na+/Ca2+ exchanger in insect cells. Am J Physiol. 1994 Jul;267(1 Pt 2):F70-4. [PubMed
]
- Kofuji P, Hadley RW, Kieval RS, Lederer WJ, Schulze DH: Expression of the Na-Ca exchanger in diverse tissues: a study using the cloned human cardiac Na-Ca exchanger. Am J Physiol. 1992 Dec;263(6 Pt 1):C1241-9. [PubMed
]
|
| Enzyme 70 Metabolite References |
Not Available |
|
Enzyme 71
[top]
|
| Enzyme 71 ID |
8586 |
| Enzyme 71 Name |
Sodium/potassium/calcium exchanger 4 |
| Enzyme 71 Synonyms |
- Na(+)/K(+)/Ca(2+)-exchange protein 4
- Solute carrier family 24 member 4
|
| Enzyme 71 Gene Name |
SLC24A4 |
| Enzyme 71 Protein Sequence |
>Sodium/potassium/calcium exchanger 4
MLPQQVGFVCAVLALVCCASGLFGSLGHKTASASKRVLPDTWRNRKLMAPVNGTQTAKNC
TDPAIHEFPTDLFSNKERQHGAVLLHILGALYMFYALAIVCDDFFVPSLEKICERLHLSE
DVAGATFMAAGSSTPELFASVIGVFITHGDVGVGTIVGSAVFNILCIIGVCGLFAGQVVR
LTWWAVCRDSVYYTISVIVLIVFIYDEQIVWWEGLVLIILYVFYILIMKYNVKMQAFFTV
KQKSIANGNPVNSELEAGNDFYDGSYDDPSVPLLGQVKEKPQYGKNPVVMVDEIMSSSPP
KFTFPEAGLRIMITNKFGPRTRLRMASRIIINERQRLINSANGVSSKPLQNGRHENIENG
NVPVENPEDPQQNQEQQPPPQPPPPEPEPVEADFLSPFSVPEARGDKVKWVFTWPLIFLL
CVTIPNCSKPRWEKFFMVTFITATLWIAVFSYIMVWLVTIIGYTLGIPDVIMGITFLAAG
TSVPDCMASLIVARQGLGDMAVSNTIGSNVFDILVGLGVPWGLQTMVVNYGSTVKINSRG
LVYSVVLLLGSVALTVLGIHLNKWRLDRKLGVYVLVLYAIFLCFSIMIEFNVFTFVNLPM
CREDD
|
| Enzyme 71 Number of Residues |
605 |
| Enzyme 71 Molecular Weight |
66950.8 |
| Enzyme 71 Theoretical pI |
6.31 |
| Enzyme 71 GO Classification |
| Function |
| — |
| Process |
- establishment of localization
- transmembrane transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane part
|
|
| Enzyme 71 General Function |
Involved in transmembrane transport |
| Enzyme 71 Specific Function |
Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+) |
| Enzyme 71 Pathways |
Not Available |
| Enzyme 71 Reactions |
Not Available |
| Enzyme 71 Pfam Domain Function |
|
| Enzyme 71 Signals |
|
| Enzyme 71 Transmembrane Regions |
- 81-101
156-176
184-204
208-228
408-428
441-461
463-483
510-530
541-561
570-590
|
| Enzyme 71 Essentiality |
Not Available |
| Enzyme 71 GenBank ID Protein |
21702721  |
| Enzyme 71 UniProtKB/Swiss-Prot ID |
Q8NFF2  |
| Enzyme 71 UniProtKB/Swiss-Prot Entry Name |
NCKX4_HUMAN  |
| Enzyme 71 PDB ID |
Not Available |
| Enzyme 71 Cellular Location |
Not Available |
| Enzyme 71 Gene Sequence |
>1818 bp
ATGCTGCCGCAGCAAGTCGGCTTCGTGTGCGCGGTGCTGGCCCTGGTGTGCTGTGCGTCC
GGCCTCTTCGGCAGCTTGGGGCACAAAACAGCTTCTGCTAGCAAACGTGTCCTGCCAGAC
ACATGGAGAAATAGAAAGTTGATGGCCCCAGTGAATGGGACACAGACAGCCAAGAACTGC
ACAGATCCTGCGATTCACGAGTTCCCCACAGATCTGTTCTCCAATAAGGAGCGACAGCAC
GGAGCCGTCCTGCTGCACATCCTTGGTGCTCTGTATATGTTCTATGCCTTGGCCATAGTG
TGCGATGACTTCTTTGTTCCGTCTCTAGAGAAGATCTGTGAGAGACTCCATCTGAGCGAA
GATGTGGCTGGAGCCACCTTCATGGCTGCAGGAAGCTCAACGCCAGAGCTGTTTGCGTCT
GTTATTGGGGTGTTCATCACCCATGGGGACGTCGGGGTGGGCACCATCGTGGGCTCTGCT
GTGTTCAACATCCTGTGCATAATTGGAGTGTGCGGACTGTTTGCTGGCCAGGTGGTCCGT
CTGACGTGGTGGGCCGTGTGCCGAGACTCCGTGTACTACACCATCTCTGTCATCGTGCTC
ATCGTGTTCATATATGATGAACAAATTGTGTGGTGGGAAGGCCTGGTGCTCATCATCTTG
TATGTGTTTTATATTCTGATCATGAAGTACAATGTGAAGATGCAAGCCTTTTTCACAGTC
AAACAAAAGAGCATTGCAAACGGTAACCCGGTCAACAGTGAGCTGGAGGCTGGTAATGAT
TTCTATGACGGTAGCTATGATGACCCTTCCGTGCCATTGCTGGGGCAAGTGAAGGAGAAG
CCACAGTATGGCAAGAACCCCGTGGTGATGGTGGACGAGATTATGAGCTCCAGCCCTCCC
AAGTTCACCTTCCCTGAAGCAGGCTTACGAATCATGATCACCAATAAGTTTGGACCCAGG
ACCCGACTACGGATGGCCAGCAGGATCATCATTAATGAGCGGCAGAGACTGATCAACTCG
GCCAATGGTGTGAGCAGTAAGCCGCTTCAAAACGGGAGGCACGAGAACATTGAGAACGGG
AATGTTCCTGTGGAAAACCCCGAAGACCCTCAGCAGAATCAGGAGCAGCAGCCGCCGCCA
CAGCCACCACCGCCAGAGCCAGAGCCGGTGGAGGCTGACTTCCTGTCCCCCTTCTCCGTG
CCGGAGGCCAGAGGGGACAAGGTCAAGTGGGTGTTCACCTGGCCCCTCATCTTCCTCCTG
TGCGTCACCATTCCCAACTGCAGCAAGCCCCGCTGGGAGAAGTTCTTCATGGTCACCTTC
ATCACCGCCACGCTGTGGATCGCTGTGTTCTCCTACATCATGGTGTGGCTGGTGACTATT
ATCGGATACACACTTGGGATCCCGGATGTCATCATGGGCATTACTTTCCTGGCAGCAGGG
ACAAGTGTTCCAGACTGCATGGCCAGCCTAATTGTGGCGAGACAAGGCCTTGGGGACATG
GCAGTCTCCAACACCATAGGAAGCAACGTGTTTGACATCCTGGTAGGACTTGGTGTACCG
TGGGGCCTGCAGACCATGGTTGTTAATTATGGATCAACAGTGAAGATCAACAGCCGGGGG
CTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTCCTCGGCATCCAC
CTAAACAAGTGGCGACTGGACCGGAAGCTGGGTGTCTACGTGCTGGTTCTCTACGCCATC
TTCTTGTGCTTCTCCATAATGATAGAGTTTAACGTCTTTACCTTCGTCAACTTGCCGATG
TGCCGGGAAGACGATTAG
|
| Enzyme 71 GenBank Gene ID |
AF520704  |
| Enzyme 71 GeneCard ID |
SLC24A4  |
| Enzyme 71 GenAtlas ID |
SLC24A4  |
| Enzyme 71 HGNC ID |
HGNC:10978  |
| Enzyme 71 Chromosome Location |
1 |
| Enzyme 71 Locus |
14q32.12 |
| Enzyme 71 SNPs |
SNPJam Report  |
| Enzyme 71 General References |
- Li XF, Kraev AS, Lytton J: Molecular cloning of a fourth member of the potassium-dependent sodium-calcium exchanger gene family, NCKX4. J Biol Chem. 2002 Dec 13;277(50):48410-7. Epub 2002 Oct 11. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C, Cattolico L, Levy M, Barbe V, de Berardinis V, Ureta-Vidal A, Pelletier E, Vico V, Anthouard V, Rowen L, Madan A, Qin S, Sun H, Du H, Pepin K, Artiguenave F, Robert C, Cruaud C, Bruls T, Jaillon O, Friedlander L, Samson G, Brottier P, Cure S, Segurens B, Aniere F, Samain S, Crespeau H, Abbasi N, Aiach N, Boscus D, Dickhoff R, Dors M, Dubois I, Friedman C, Gouyvenoux M, James R, Madan A, Mairey-Estrada B, Mangenot S, Martins N, Menard M, Oztas S, Ratcliffe A, Shaffer T, Trask B, Vacherie B, Bellemere C, Belser C, Besnard-Gonnet M, Bartol-Mavel D, Boutard M, Briez-Silla S, Combette S, Dufosse-Laurent V, Ferron C, Lechaplais C, Louesse C, Muselet D, Magdelenat G, Pateau E, Petit E, Sirvain-Trukniewicz P, Trybou A, Vega-Czarny N, Bataille E, Bluet E, Bordelais I, Dubois M, Dumont C, Guerin T, Haffray S, Hammadi R, Muanga J, Pellouin V, Robert D, Wunderle E, Gauguet G, Roy A, Sainte-Marthe L, Verdier J, Verdier-Discala C, Hillier L, Fulton L, McPherson J, Matsuda F, Wilson R, Scarpelli C, Gyapay G, Wincker P, Saurin W, Quetier F, Waterston R, Hood L, Weissenbach J: The DNA sequence and analysis of human chromosome 14. Nature. 2003 Feb 6;421(6923):601-7. Epub 2003 Jan 1. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Bechtel S, Rosenfelder H, Duda A, Schmidt CP, Ernst U, Wellenreuther R, Mehrle A, Schuster C, Bahr A, Blocker H, Heubner D, Hoerlein A, Michel G, Wedler H, Kohrer K, Ottenwalder B, Poustka A, Wiemann S, Schupp I: The full-ORF clone resource of the German cDNA Consortium. BMC Genomics. 2007 Oct 31;8:399. [PubMed
]
- Sulem P, Gudbjartsson DF, Stacey SN, Helgason A, Rafnar T, Magnusson KP, Manolescu A, Karason A, Palsson A, Thorleifsson G, Jakobsdottir M, Steinberg S, Palsson S, Jonasson F, Sigurgeirsson B, Thorisdottir K, Ragnarsson R, Benediktsdottir KR, Aben KK, Kiemeney LA, Olafsson JH, Gulcher J, Kong A, Thorsteinsdottir U, Stefansson K: Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat Genet. 2007 Dec;39(12):1443-52. Epub 2007 Oct 21. [PubMed
]
|
| Enzyme 71 Metabolite References |
Not Available |
|
Enzyme 72
[top]
|
| Enzyme 72 ID |
8593 |
| Enzyme 72 Name |
Cytosolic beta-glucosidase |
| Enzyme 72 Synonyms |
- Cytosolic beta-glucosidase-like protein 1
|
| Enzyme 72 Gene Name |
GBA3 |
| Enzyme 72 Protein Sequence |
>Cytosolic beta-glucosidase
MAFPAGFGWAAATAAYQVEGGWDADGKGPCVWDTFTHQGGERVFKNQTGDVACGSYTLWE
EDLKCIKQLGLTHYRFSLSWSRLLPDGTTGFINQKGIDYYNKIIDDLLKNGVTPIVTLYH
FDLPQTLEDQGGWLSEAIIESFDKYAQFCFSTFGDRVKQWITINEANVLSVMSYDLGMFP
PGIPHFGTGGYQAAHNLIKAHARSWHSYDSLFRKKQKGMVSLSLFAVWLEPADPNSVSDQ
EAAKRAITFHLDLFAKPIFIDGDYPEVVKSQIASMSQKQGYPSSRLPEFTEEEKKMIKGT
ADFFAVQYYTTRLIKYQENKKGELGILQDAEIEFFPDPSWKNVDWIYVVPWGVCKLLKYI
KDTYNNPVIYITENGFPQSDPAPLDDTQRWEYFRQTFQELFKAIQLDKVNLQVYCAWSLL
DNFEWNQGYSSRFGLFHVDFEDPARPRVPYTSAKEYAKIIRNNGLEAHL
|
| Enzyme 72 Number of Residues |
469 |
| Enzyme 72 Molecular Weight |
53695.3 |
| Enzyme 72 Theoretical pI |
5.33 |
| Enzyme 72 GO Classification |
| Function |
- binding
- catalytic activity
- cation binding
- hydrolase activity
- hydrolase activity, acting on glycosyl bonds
- hydrolase activity, hydrolyzing O-glycosyl compounds
- ion binding
|
| Process |
- carbohydrate metabolic process
- metabolic process
- primary metabolic process
|
| Component |
| — |
|
| Enzyme 72 General Function |
Involved in hydrolase activity, hydrolyzing O-glycosyl compounds |
| Enzyme 72 Specific Function |
Glycosidase probably involved in the intestinal absorption and metabolism of dietary flavonoid glycosides. Able to hydrolyze a broad variety of glycosides including phytoestrogens, flavonols, flavones, flavanones and cyanogens. Possesses beta- glycosylceramidase activity and may be involved in a nonlysosomal catabolic pathway of glycosylceramide |
| Enzyme 72 Pathways |
- Cyanoamino acid metabolism (map00460
)
- Starch and Sucrose Metabolism (map00500
)
- Stilbene, coumarine and lignin biosynthesis (map00940
)
|
| Enzyme 72 Reactions |
- Hydrolysis of terminal, non-reducing beta-D-glucosyl residues with release of beta-D-glucose ALL_REAC (other) R00026 R02887 R03527 R04949 R04998 R06077(G) R06092(G)
|
| Enzyme 72 Pfam Domain Function |
|
| Enzyme 72 Signals |
|
| Enzyme 72 Transmembrane Regions |
|
| Enzyme 72 Essentiality |
Not Available |
| Enzyme 72 GenBank ID Protein |
11559218  |
| Enzyme 72 UniProtKB/Swiss-Prot ID |
Q9H227  |
| Enzyme 72 UniProtKB/Swiss-Prot Entry Name |
GBA3_HUMAN  |
| Enzyme 72 PDB ID |
Not Available |
| Enzyme 72 Cellular Location |
Not Available |
| Enzyme 72 Gene Sequence |
>1410 bp
ATGGCTTTCCCTGCAGGATTTGGATGGGCGGCAGCCACTGCAGCTTATCAAGTAGAAGGA
GGCTGGGATGCAGATGGAAAAGGCCCTTGTGTCTGGGACACATTTACTCATCAGGGAGGA
GAGAGAGTTTTCAAGAACCAGACTGGCGATGTAGCTTGTGGCAGCTACACTCTGTGGGAG
GAAGATTTGAAATGTATCAAACAGCTTGGATTGACTCATTACCGCTTCTCTCTTTCCTGG
TCACGTCTGTTACCTGATGGGACGACAGGTTTCATCAACCAGAAAGGAATTGATTATTAC
AACAAGATCATCGATGATTTGTTAAAAAATGGGGTTACTCCCATTGTGACCCTCTACCAC
TTTGATTTGCCTCAGACTTTAGAAGACCAAGGAGGTTGGTTGTCAGAGGCAATCATTGAA
TCCTTTGACAAATATGCTCAGTTTTGCTTCAGTACCTTTGGGGATCGTGTCAAGCAGTGG
ATCACCATAAATGAAGCTAATGTTCTTTCTGTGATGTCATATGACTTAGGTATGTTTCCT
CCGGGTATCCCTCACTTTGGGACTGGAGGTTATCAGGCAGCTCATAATTTGATTAAGGCT
CATGCCAGATCCTGGCACAGCTATGATTCCTTATTTCGAAAAAAGCAGAAAGGTATGGTG
TCTCTATCACTTTTTGCGGTCTGGTTGGAACCAGCAGATCCCAACTCAGTGTCTGACCAG
GAAGCTGCTAAAAGAGCCATCACTTTCCATCTGGATTTATTTGCTAAACCCATATTCATC
GATGGTGATTATCCTGAAGTTGTCAAGTCTCAGATTGCCTCCATGAGTCAAAAGCAAGGC
TATCCATCATCGAGGCTTCCAGAATTCACTGAAGAAGAGAAGAAAATGATCAAAGGCACT
GCTGATTTTTTTGCTGTGCAATATTATACAACTCGCTTAATCAAGTACCAGGAGAACAAG
AAAGGAGAACTAGGTATTCTCCAGGATGCGGAAATTGAATTTTTTCCAGATCCATCTTGG
AAAAATGTGGATTGGATCTACGTGGTACCATGGGGAGTATGTAAACTACTGAAATATATT
AAGGATACATATAATAACCCTGTAATTTACATCACTGAGAATGGGTTTCCCCAGAGTGAC
CCAGCGCCTCTTGATGACACTCAACGCTGGGAGTATTTCAGACAAACATTTCAGGAACTG
TTCAAAGCTATCCAACTTGATAAAGTCAATCTTCAAGTATATTGTGCATGGTCTCTTCTG
GATAACTTTGAGTGGAACCAGGGATACAGCAGCCGGTTTGGTCTCTTCCACGTTGATTTT
GAAGACCCAGCTAGACCCCGAGTCCCTTACACATCGGCCAAGGAATATGCCAAGATCATC
CGAAACAATGGCCTTGAAGCACATCTGTAG
|
| Enzyme 72 GenBank Gene ID |
AB017913  |
| Enzyme 72 GeneCard ID |
GBA3  |
| Enzyme 72 GenAtlas ID |
GBA3  |
| Enzyme 72 HGNC ID |
HGNC:19069  |
| Enzyme 72 Chromosome Location |
4 |
| Enzyme 72 Locus |
4p15.2 |
| Enzyme 72 SNPs |
SNPJam Report  |
| Enzyme 72 General References |
- Yahata K, Mori K, Arai H, Koide S, Ogawa Y, Mukoyama M, Sugawara A, Ozaki S, Tanaka I, Nabeshima Y, Nakao K: Molecular cloning and expression of a novel klotho-related protein. J Mol Med. 2000;78(7):389-94. [PubMed
]
- de Graaf M, van Veen IC, van der Meulen-Muileman IH, Gerritsen WR, Pinedo HM, Haisma HJ: Cloning and characterization of human liver cytosolic beta-glycosidase. Biochem J. 2001 Jun 15;356(Pt 3):907-10. [PubMed
]
- Berrin JG, McLauchlan WR, Needs P, Williamson G, Puigserver A, Kroon PA, Juge N: Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides. Eur J Biochem. 2002 Jan;269(1):249-58. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Berrin JG, Czjzek M, Kroon PA, McLauchlan WR, Puigserver A, Williamson G, Juge N: Substrate (aglycone) specificity of human cytosolic beta-glucosidase. Biochem J. 2003 Jul 1;373(Pt 1):41-8. [PubMed
]
- Nemeth K, Plumb GW, Berrin JG, Juge N, Jacob R, Naim HY, Williamson G, Swallow DM, Kroon PA: Deglycosylation by small intestinal epithelial cell beta-glucosidases is a critical step in the absorption and metabolism of dietary flavonoid glycosides in humans. Eur J Nutr. 2003 Jan;42(1):29-42. [PubMed
]
- Hayashi Y, Okino N, Kakuta Y, Shikanai T, Tani M, Narimatsu H, Ito M: Klotho-related protein is a novel cytosolic neutral beta-glycosylceramidase. J Biol Chem. 2007 Oct 19;282(42):30889-900. Epub 2007 Jun 26. [PubMed
]
- Tribolo S, Berrin JG, Kroon PA, Czjzek M, Juge N: The crystal structure of human cytosolic beta-glucosidase unravels the substrate aglycone specificity of a family 1 glycoside hydrolase. J Mol Biol. 2007 Jul 27;370(5):964-75. Epub 2007 May 18. [PubMed
]
- Noguchi J, Hayashi Y, Baba Y, Okino N, Kimura M, Ito M, Kakuta Y: Crystal structure of the covalent intermediate of human cytosolic beta-glucosidase. Biochem Biophys Res Commun. 2008 Sep 26;374(3):549-52. Epub 2008 Jul 26. [PubMed
]
- Beutler E, Beutler L, West C: Mutations in the gene encoding cytosolic beta-glucosidase in Gaucher disease. J Lab Clin Med. 2004 Aug;144(2):65-8. [PubMed
]
|
| Enzyme 72 Metabolite References |
Not Available |
|
Enzyme 73
[top]
|
| Enzyme 73 ID |
8600 |
| Enzyme 73 Name |
Sodium/hydrogen exchanger 8 |
| Enzyme 73 Synonyms |
- Na(+)/H(+) exchanger 8
- NHE-8
- Solute carrier family 9 member 8
|
| Enzyme 73 Gene Name |
SLC9A8 |
| Enzyme 73 Protein Sequence |
>Sodium/hydrogen exchanger 8
MGEKMAEEERFPNTTHEGFNVTLHTTLVVTTKLVLPTPGKPILPVQTGEQAQQEEQSSGM
TIFFSLLVLAICIILVHLLIRYRLHFLPESVAVVSLGILMGAVIKIIEFKKLANWKEEEM
FRPNMFFLLLLPPIIFESGYSLHKGNFFQNIGSITLFAVFGTAISAFVVGGGIYFLGQAD
VISKLNMTDSFAFGSLISAVDPVATIAIFNALHVDPVLNMLVFGESILNDAVSIVLTNTA
EGLTRKNMSDVSGWQTFLQALDYFLKMFFGSAALGTLTGLISALVLKHIDLRKTPSLEFG
MMIIFAYLPYGLAEGISLSGIMAILFSGIVMSHYTHHNLSPVTQILMQQTLRTVAFLCET
CVFAFLGLSIFSFPHKFEISFVIWCIVLVLFGRAVNIFPLSYLLNFFRDHKITPKMMFIM
WFSGLRGAIPYALSLHLDLEPMEKRQLIGTTTIVIVLFTILLLGGSTMPLIRLMDIEDAK
AHRRNKKDVNLSKTEKMGNTVESEHLSELTEEEYEAHYIRRQDLKGFVWLDAKYLNPFFT
RRLTQEDLHHGRIQMKTLTNKWYEEVRQGPSGSEDDEQELL
|
| Enzyme 73 Number of Residues |
581 |
| Enzyme 73 Molecular Weight |
65421.2 |
| Enzyme 73 Theoretical pI |
6.51 |
| Enzyme 73 GO Classification |
| Function |
- cation transmembrane transporter activity
- hydrogen ion transmembrane transporter activity
- inorganic cation transmembrane transporter activity
- ion transmembrane transporter activity
- monovalent cation:hydrogen antiporter activity
- monovalent inorganic cation transmembrane transporter activity
- sodium:hydrogen antiporter activity
- solute:cation antiporter activity
- solute:hydrogen antiporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- biological regulation
- cation homeostasis
- cation transport
- chemical homeostasis
- establishment of localization
- homeostatic process
- ion homeostasis
- ion transport
- monovalent inorganic cation homeostasis
- monovalent inorganic cation transport
- regulation of biological quality
- regulation of pH
- sodium ion transport
- transmembrane transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane part
|
|
| Enzyme 73 General Function |
Involved in solute:hydrogen antiporter activity |
| Enzyme 73 Specific Function |
Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction |
| Enzyme 73 Pathways |
Not Available |
| Enzyme 73 Reactions |
Not Available |
| Enzyme 73 Pfam Domain Function |
|
| Enzyme 73 Signals |
|
| Enzyme 73 Transmembrane Regions |
- 60-80
84-104
123-143
156-176
191-211
264-284
311-331
354-374
379-399
417-437
451-471
|
| Enzyme 73 Essentiality |
Not Available |
| Enzyme 73 GenBank ID Protein |
41872703  |
| Enzyme 73 UniProtKB/Swiss-Prot ID |
Q9Y2E8  |
| Enzyme 73 UniProtKB/Swiss-Prot Entry Name |
SL9A8_HUMAN  |
| Enzyme 73 PDB ID |
Not Available |
| Enzyme 73 Cellular Location |
Not Available |
| Enzyme 73 Gene Sequence |
>1746 bp
ATGGGGGAGAAGATGGCGGAAGAGGAGAGGTTCCCCAATACAACTCATGAGGGTTTCAAT
GTCACCCTCCACACCACCCTGGTTGTCACGACGAAACTGGTGCTCCCGACCCCTGGCAAG
CCCATCCTCCCCGTGCAGACAGGGGAGCAGGCCCAGCAAGAGGAGCAGTCCAGCGGCATG
ACCATTTTCTTCAGCCTCCTTGTCCTAGCTATCTGCATCATATTGGTGCATTTACTGATC
CGATACAGATTACATTTCTTGCCAGAGAGTGTTGCTGTTGTTTCTTTAGGTATTCTCATG
GGAGCAGTTATAAAAATTATAGAGTTTAAAAAACTGGCGAATTGGAAGGAAGAAGAAATG
TTTCGTCCAAACATGTTTTTCCTCCTCCTGCTTCCCCCTATTATCTTTGAGTCTGGATAT
TCATTACACAAGGGTAACTTCTTTCAAAATATTGGTTCCATCACCCTGTTTGCTGTTTTT
GGGACGGCAATCTCCGCTTTTGTAGTAGGTGGAGGAATTTATTTTCTGGGTCAGGCTGAT
GTAATCTCTAAACTCAACATGACAGACAGTTTTGCGTTTGGCTCCCTAATATCTGCTGTC
GATCCAGTGGCCACTATTGCCATTTTCAATGCACTTCATGTGGACCCCGTGCTCAACATG
CTGGTCTTTGGAGAAAGTATTCTCAACGATGCAGTCTCCATTGTTCTGACCAACACAGCT
GAAGGTTTAACAAGAAAAAATATGTCAGATGTCAGTGGGTGGCAAACATTTTTACAAGCC
CTTGACTACTTCCTCAAAATGTTCTTTGGCTCTGCAGCGCTCGGCACTCTCACTGGCTTA
ATTTCTGCATTAGTGCTGAAGCATATTGACTTGAGGAAAACGCCTTCCTTGGAGTTTGGC
ATGATGATCATTTTTGCTTATCTGCCTTATGGGCTTGCAGAAGGAATCTCACTCTCAGGC
ATCATGGCCATCCTTTTCTCAGGCATCGTGATGTCCCACTACACGCACCATAACCTCTCC
CCAGTCACCCAGATCCTCATGCAGCAGACCCTCCGCACCGTGGCCTTCTTATGTGAAACA
TGTGTGTTTGCATTTCTTGGCCTGTCCATTTTTAGTTTTCCTCACAAGTTTGAAATTTCC
TTTGTCATCTGGTGCATAGTGCTTGTACTATTTGGCAGAGCGGTAAACATTTTCCCTCTT
TCCTACCTCCTGAATTTCTTCCGGGATCATAAAATCACACCGAAGATGATGTTCATCATG
TGGTTTAGTGGCCTGCGGGGAGCCATCCCCTATGCCCTGAGCCTACACCTGGACCTGGAG
CCCATGGAGAAGCGGCAGCTCATCGGCACCACCACCATCGTCATCGTGCTCTTCACCATC
CTGCTGCTGGGCGGCAGCACCATGCCCCTCATTCGCCTCATGGACATCGAGGACGCCAAG
GCACACCGCAGGAACAAGAAGGACGTCAACCTCAGCAAGACTGAGAAGATGGGCAACACT
GTGGAGTCGGAGCACCTGTCGGAGCTCACGGAGGAGGAGTACGAGGCCCACTACATCAGG
CGGCAGGACCTTAAGGGCTTCGTGTGGCTGGACGCCAAGTACCTGAACCCCTTCTTCACT
CGGAGGCTGACGCAGGAGGACCTGCACCACGGGCGCATCCAGATGAAAACTCTCACCAAC
AAGTGGTACGAGGAGGTACGCCAGGGCCCCTCCGGCTCCGAGGACGACGAGCAGGAGCTG
CTCTGA
|
| Enzyme 73 GenBank Gene ID |
NM_015266.1  |
| Enzyme 73 GeneCard ID |
SLC9A8  |
| Enzyme 73 GenAtlas ID |
SLC9A8  |
| Enzyme 73 HGNC ID |
HGNC:20728  |
| Enzyme 73 Chromosome Location |
2 |
| Enzyme 73 Locus |
20q13.13 |
| Enzyme 73 SNPs |
SNPJam Report  |
| Enzyme 73 General References |
- Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O: Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 1999 Feb 26;6(1):63-70. [PubMed
]
- Nakajima D, Okazaki N, Yamakawa H, Kikuno R, Ohara O, Nagase T: Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. DNA Res. 2002 Jun 30;9(3):99-106. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Bechtel S, Rosenfelder H, Duda A, Schmidt CP, Ernst U, Wellenreuther R, Mehrle A, Schuster C, Bahr A, Blocker H, Heubner D, Hoerlein A, Michel G, Wedler H, Kohrer K, Ottenwalder B, Poustka A, Wiemann S, Schupp I: The full-ORF clone resource of the German cDNA Consortium. BMC Genomics. 2007 Oct 31;8:399. [PubMed
]
- Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M, Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE, Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C, Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A, Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA, Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S, Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K, Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A, Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM, Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ, Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE, Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C, Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L, Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA, Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S, Rogers J: The DNA sequence and comparative analysis of human chromosome 20. Nature. 2001 Dec 20-27;414(6866):865-71. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Nakamura N, Tanaka S, Teko Y, Mitsui K, Kanazawa H: Four Na+/H+ exchanger isoforms are distributed to Golgi and post-Golgi compartments and are involved in organelle pH regulation. J Biol Chem. 2005 Jan 14;280(2):1561-72. Epub 2004 Nov 2. [PubMed
]
- Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. Cell. 2006 Nov 3;127(3):635-48. [PubMed
]
|
| Enzyme 73 Metabolite References |
Not Available |
|
Enzyme 74
[top]
|
| Enzyme 74 ID |
8606 |
| Enzyme 74 Name |
Sodium/hydrogen exchanger 2 |
| Enzyme 74 Synonyms |
- Na(+)/H(+) exchanger 2
- NHE-2
- Solute carrier family 9 member 2
|
| Enzyme 74 Gene Name |
SLC9A2 |
| Enzyme 74 Protein Sequence |
>Sodium/hydrogen exchanger 2
MEPLGNWRSLRAPLPPMLLLLLLQVAGPVGALAETLLNAPRAMGTSSSPPSPASVVAPGT
TLFEESRLPVFTLDYPHVQIPFEITLWILLASLAKIGFHLYHKLPTIVPESCLLIMVGLL
LGGIIFGVDEKSPPAMKTDVFFLYLLPPIVLDAGYFMPTRPFFENIGTIFWYAVVGTLWN
SIGIGVSLFGICQIEAFGLSDITLLQNLLFGSLISAVDPVAVLAVFENIHVNEQLYILVF
GESLLNDAVTVVLYNLFKSFCQMKTIETIDVFAGIANFFVVGIGGVLIGIFLGFIAAFTT
RFTHNIRVIEPLFVFLYSYLSYITAEMFHLSGIMAITACAMTMNKYVEENVSQKSYTTIK
YFMKMLSSVSETLIFIFMGVSTVGKNHEWNWAFVCFTLAFCLMWRALGVFVLTQVINRFR
TIPLTFKDQFIIAYGGLRGAICFALVFLLPAAVFPRKKLFITAAIVVIFFTVFILGITIR
PLVEFLDVKRSNKKQQAVSEEIYCRLFDHVKTGIEDVCGHWGHNFWRDKFKKFDDKYLRK
LLIRENQPKSSIVSLYKKLEIKHAIEMAETGMISTVPTFASLNDCREEKIRKVTSSETDE
IRELLSRNLYQIRQRTLSYNRHSLTADTSERQAKEILIRRRHSLRESIRKDSSLNREHRA
STSTSRYLSLPKNTKLPEKLQKRRTISIADGNSSDSDADAGTTVLNLQPRARRFLPEQFS
KKSPQSYKMEWKNEVDVDSGRDMPSTPPTPHSREKGTQTSGLLQQPLLSKDQSGSEREDS
LTEGIPPKPPPRLVWRASEPGSRKARFGSEKP
|
| Enzyme 74 Number of Residues |
812 |
| Enzyme 74 Molecular Weight |
91518.8 |
| Enzyme 74 Theoretical pI |
9.48 |
| Enzyme 74 GO Classification |
| Function |
- cation transmembrane transporter activity
- hydrogen ion transmembrane transporter activity
- inorganic cation transmembrane transporter activity
- ion transmembrane transporter activity
- monovalent cation:hydrogen antiporter activity
- monovalent inorganic cation transmembrane transporter activity
- sodium:hydrogen antiporter activity
- solute:cation antiporter activity
- solute:hydrogen antiporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- biological regulation
- cation homeostasis
- cation transport
- chemical homeostasis
- establishment of localization
- homeostatic process
- ion homeostasis
- ion transport
- monovalent inorganic cation homeostasis
- monovalent inorganic cation transport
- regulation of biological quality
- regulation of pH
- sodium ion transport
- transmembrane transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane part
|
|
| Enzyme 74 General Function |
Involved in solute:hydrogen antiporter activity |
| Enzyme 74 Specific Function |
Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Seems to play an important role in colonic sodium absorption |
| Enzyme 74 Pathways |
Not Available |
| Enzyme 74 Reactions |
Not Available |
| Enzyme 74 Pfam Domain Function |
|
| Enzyme 74 Signals |
|
| Enzyme 74 Transmembrane Regions |
- 107-127
139-159
169-189
209-229
237-257
278-298
308-328
361-381
392-412
459-479
|
| Enzyme 74 Essentiality |
Not Available |
| Enzyme 74 GenBank ID Protein |
6624113  |
| Enzyme 74 UniProtKB/Swiss-Prot ID |
Q9UBY0  |
| Enzyme 74 UniProtKB/Swiss-Prot Entry Name |
SL9A2_HUMAN  |
| Enzyme 74 PDB ID |
1Y4E  |
| Enzyme 74 PDB File |
Show |
| Enzyme 74 3D Structure |
|
| Enzyme 74 Cellular Location |
Not Available |
| Enzyme 74 Gene Sequence |
>2439 bp
ATGGAACCACTGGGCAACTGGAGGAGCCTGCGGGCGCCACTGCCTCCGATGCTGTTGCTG
CTGCTCCTGCAGGTGGCGGGGCCCGTGGGCGCCCTGGCGGAGACCTTGCTGAACGCGCCG
AGGGCCATGGGCACCAGTTCCAGCCCGCCTAGCCCTGCGAGCGTGGTGGCTCCCGGAACG
ACGCTGTTCGAGGAGAGCCGGCTGCCTGTGTTTACGCTGGATTACCCCCACGTGCAGATC
CCCTTCGAGATCACCCTTTGGATCCTGCTGGCCTCCCTGGCCAAGATTGGCTTCCATCTG
TATCACAAGTTGCCCACAATAGTGCCTGAGAGCTGCCTTCTTATAATGGTTGGACTTCTA
CTAGGTGGGATTATTTTTGGTGTTGATGAGAAGTCTCCCCCTGCAATGAAGACTGATGTA
TTTTTCTTGTACCTCCTCCCACCCATCGTGCTGGATGCCGGCTATTTCATGCCCACTCGC
CCATTCTTTGAGAACATTGGCACGATTTTCTGGTATGCTGTGGTAGGGACACTTTGGAAT
TCCATTGGCATTGGGGTGTCTTTGTTTGGTATCTGCCAGATCGAAGCATTCGGCCTCAGC
GACATCACTTTGCTCCAGAACCTGCTCTTTGGCAGCTTAATCTCAGCTGTCGATCCTGTG
GCTGTGCTTGCTGTCTTTGAGAACATTCACGTCAATGAGCAGCTCTACATCCTGGTCTTT
GGAGAGTCCCTGCTGAATGATGCAGTAACAGTGGTCCTGTACAACTTGTTCAAGTCGTTT
TGCCAGATGAAAACCATTGAGACCATTGATGTGTTTGCAGGAATCGCCAACTTCTTTGTT
GTGGGAATCGGTGGGGTGCTGATTGGCATCTTCTTGGGCTTTATAGCGGCATTTACTACT
CGATTCACCCATAATATCCGAGTGATCGAGCCACTGTTTGTTTTCCTGTACAGTTATTTG
TCCTACATCACAGCTGAAATGTTTCACCTCTCAGGCATCATGGCAATCACTGCTTGTGCA
ATGACTATGAATAAGTACGTAGAAGAAAATGTATCTCAGAAATCCTACACGACCATCAAG
TACTTCATGAAGATGCTGAGCAGTGTCAGCGAAACCTTGATCTTCATCTTCATGGGTGTG
TCTACCGTGGGCAAGAACCACGAGTGGAACTGGGCCTTCGTCTGCTTCACCCTGGCCTTC
TGCCTCATGTGGCGAGCCCTGGGTGTTTTTGTCCTGACTCAGGTCATTAATAGGTTCCGG
ACCATTCCCCTGACCTTTAAGGACCAGTTCATCATTGCCTATGGAGGACTTCGAGGTGCC
ATCTGTTTTGCGTTAGTGTTTCTCCTTCCTGCTGCTGTGTTTCCTCGGAAAAAATTGTTT
ATTACGGCTGCCATTGTTGTCATATTCTTTACTGTCTTCATTCTGGGAATAACTATTCGA
CCACTGGTGGAGTTTCTTGATGTCAAGAGGTCCAATAAGAAACAACAAGCTGTCAGTGAA
GAAATCTATTGTCGGTTGTTTGATCATGTGAAGACTGGAATTGAAGATGTTTGTGGACAT
TGGGGTCACAACTTTTGGAGAGACAAGTTTAAGAAGTTTGATGATAAATATCTGCGGAAG
CTTTTGATTCGGGAAAACCAACCAAAGTCAAGTATTGTATCTTTATATAAAAAGCTTGAA
ATAAAACATGCCATTGAGATGGCAGAGACTGGGATGATAAGTACTGTCCCTACATTTGCA
TCTCTAAATGATTGTCGTGAAGAAAAAATAAGGAAGGTCACGTCCAGTGAAACTGATGAA
ATTCGAGAACTCTTATCAAGAAATCTCTATCAAATCCGTCAGCGAACTTTATCCTACAAC
AGACACAGTCTGACAGCCGACACAAGTGAGAGACAAGCCAAGGAGATTCTGATTCGCCGG
CGACACAGTTTGCGAGAAAGCATTAGGAAGGACAGCAGCTTGAATCGAGAACACAGGGCT
TCCACTTCAACCTCCCGATATTTATCCTTACCTAAAAATACGAAGCTTCCAGAAAAGCTA
CAAAAGAGGAGGACTATTTCTATTGCAGATGGCAATAGCAGCGACTCAGACGCAGATGCC
GGGACCACCGTGCTCAATTTGCAGCCCAGAGCCAGGCGCTTCTTGCCAGAACAGTTCTCC
AAGAAATCCCCCCAGTCCTATAAAATGGAATGGAAGAATGAGGTAGATGTTGATTCTGGC
CGAGATATGCCCAGCACCCCCCCAACACCCCACAGCAGAGAAAAGGGCACCCAGACGTCA
GGCTTACTACAGCAGCCCCTTCTCTCTAAAGACCAGTCTGGCTCAGAGAGGGAAGACAGT
TTGACTGAAGGCATCCCGCCCAAGCCGCCACCACGGCTGGTCTGGAGGGCATCGGAACCT
GGAAGCCGGAAAGCCCGATTTGGGAGTGAGAAGCCTTAA
|
| Enzyme 74 GenBank Gene ID |
AC007239  |
| Enzyme 74 GeneCard ID |
SLC9A2  |
| Enzyme 74 GenAtlas ID |
SLC9A2  |
| Enzyme 74 HGNC ID |
HGNC:11072  |
| Enzyme 74 Chromosome Location |
2 |
| Enzyme 74 Locus |
2q11.2 |
| Enzyme 74 SNPs |
SNPJam Report  |
| Enzyme 74 General References |
- Malakooti J, Dahdal RY, Schmidt L, Layden TJ, Dudeja PK, Ramaswamy K: Molecular cloning, tissue distribution, and functional expression of the human Na(+)/H(+) exchanger NHE2. Am J Physiol. 1999 Aug;277(2 Pt 1):G383-90. [PubMed
]
- Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK: Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434(7034):724-31. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE: The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314(5797):268-74. Epub 2006 Sep 7. [PubMed
]
|
| Enzyme 74 Metabolite References |
Not Available |
|
Enzyme 75
[top]
|
| Enzyme 75 ID |
8616 |
| Enzyme 75 Name |
Y+L amino acid transporter 1 |
| Enzyme 75 Synonyms |
- Monocyte amino acid permease 2
- MOP-2
- Solute carrier family 7 member 7
- y(+)L-type amino acid transporter 1
- Y+LAT1
- y+LAT-1
|
| Enzyme 75 Gene Name |
SLC7A7 |
| Enzyme 75 Protein Sequence |
>Y+L amino acid transporter 1
MVDSTEYEVASQPEVETSPLGDGASPGPEQVKLKKEISLLNGVCLIVGNMIGSGIFVSPK
GVLIYSASFGLSLVIWAVGGLFSVFGALCYAELGTTIKKSGASYAYILEAFGGFLAFIRL
WTSLLIIEPTSQAIIAITFANYMVQPLFPSCFAPYAASRLLAAACICLLTFINCAYVKWG
TLVQDIFTYAKVLALIAVIVAGIVRLGQGASTHFENSFEGSSFAVGDIALALYSALFSYS
GWDTLNYVTEEIKNPERNLPLSIGISMPIVTIIYILTNVAYYTVLDMRDILASDAVAVTF
ADQIFGIFNWIIPLSVALSCFGGLNASIVAASRLFFVGSREGHLPDAICMIHVERFTPVP
SLLFNGIMALIYLCVEDIFQLINYYSFSYWFFVGLSIVGQLYLRWKEPDRPRPLKLSVFF
PIVFCLCTIFLVAVPLYSDTINSLIGIAIALSGLPFYFLIIRVPEHKRPLYLRRIVGSAT
RYLQVLCMSVAAEMDLEDGGEMPKQRDPKSN
|
| Enzyme 75 Number of Residues |
511 |
| Enzyme 75 Molecular Weight |
55990.0 |
| Enzyme 75 Theoretical pI |
5.07 |
| Enzyme 75 GO Classification |
| Function |
- active transmembrane transporter activity
- amine transmembrane transporter activity
- amino acid transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- amine transport
- amino acid transport
- establishment of localization
- transmembrane transport
- transport
|
| Component |
|
|
| Enzyme 75 General Function |
Involved in transport |
| Enzyme 75 Specific Function |
Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some neutral amino acids. Requires co-expression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine and glutamine. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Involved in the transport of L- arginine in monocytes |
| Enzyme 75 Pathways |
Not Available |
| Enzyme 75 Reactions |
Not Available |
| Enzyme 75 Pfam Domain Function |
|
| Enzyme 75 Signals |
|
| Enzyme 75 Transmembrane Regions |
- 37-57
69-89
107-127
133-153
160-180
186-206
222-242
259-279
304-324
383-403
416-436
441-461
|
| Enzyme 75 Essentiality |
Not Available |
| Enzyme 75 GenBank ID Protein |
9836572  |
| Enzyme 75 UniProtKB/Swiss-Prot ID |
Q9UM01  |
| Enzyme 75 UniProtKB/Swiss-Prot Entry Name |
YLAT1_HUMAN  |
| Enzyme 75 PDB ID |
Not Available |
| Enzyme 75 Cellular Location |
Not Available |
| Enzyme 75 Gene Sequence |
>1536 bp
ATGGTTGACAGCACTGAGTATGAAGTGGCCTCCCAGCCTGAGGTGGAAACCTCCCCTTTG
GGTGATGGGGCCAGCCCAGGGCCGGAGCAGGTGAAGCTGAAGAAGGAGATCTCACTGCTT
AACGGCGTGTGCCTGATTGTGGGGAACATGATCGGCTCAGGCATCTTTGTTTCCCCCAAG
GGTGTGCTCATATACAGTGCCTCCTTTGGTCTCTCTCTGGTCATCTGGGCTGTCGGGGGC
CTCTTCTCCGTCTTTGGGGCCCTTTGTTATGCGGAACTGGGCACCACCATTAAGAAATCT
GGGGCCAGCTATGCCTATATCCTGGAGGCCTTTGGAGGATTCCTTGCTTTCATCAGACTC
TGGACCTCCCTGCTCATCATTGAGCCCACCAGCCAGGCCATCATTGCCATCACCTTTGCC
AACTACATGGTACAGCCTCTCTTCCCGAGCTGCTTCGCCCCTTATGCTGCCAGCCGCCTG
CTGGCTGCTGCCTGCATCTGTCTCTTAACCTTCATTAACTGTGCCTATGTCAAATGGGGA
ACCCTGGTACAAGATATTTTCACCTATGCTAAAGTATTGGCACTGATCGCGGTCATCGTT
GCAGGCATTGTTAGACTTGGCCAGGGAGCCTCTACTCATTTTGAGAATTCCTTTGAGGGT
TCATCATTTGCAGTGGGTGACATTGCCCTGGCACTGTACTCAGCTCTGTTCTCCTACTCA
GGCTGGGACACCCTCAACTATGTCACTGAAGAGATCAAGAATCCTGAGAGGAACCTGCCC
CTCTCCATTGGCATCTCCATGCCCATTGTCACCATCATCTATATCTTGACCAATGTGGCC
TATTATACTGTGCTAGACATGAGAGACATCTTGGCCAGTGATGCTGTTGCTGTGACTTTT
GCAGATCAGATATTTGGAATATTTAACTGGATAATTCCACTGTCAGTTGCATTATCCTGT
TTTGGTGGCCTCAATGCCTCCATTGTGGCTGCTTCTAGGCTTTTCTTTGTGGGCTCAAGA
GAAGGCCATCTCCCTGATGCCATCTGCATGATCCATGTTGAGCGGTTCACACCAGTGCCT
TCTCTGCTCTTCAATGGTATCATGGCATTGATCTACTTGTGCGTGGAAGACATCTTCCAG
CTCATTAACTACTACAGCTTCAGCTACTGGTTCTTTGTGGGGCTTTCTATTGTGGGTCAG
CTTTATCTGCGCTGGAAGGAGCCTGATCGACCTCGTCCCCTCAAGCTCAGCGTTTTCTTC
CCGATTGTCTTCTGCCTCTGCACCATCTTCCTGGTGGCTGTTCCACTTTACAGTGATACT
ATCAACTCCCTCATCGGCATTGCCATTGCCCTCTCAGGCCTGCCCTTTTACTTCCTCATC
ATCAGAGTGCCAGAACATAAGCGACCGCTTTACCTCCGAAGGATCGTGGGGTCTGCCACA
AGGTACCTCCAGGTCCTGTGTATGTCAGTTGCTGCAGAAATGGATTTGGAAGATGGAGGA
GAGATGCCCAAGCAACGGGATCCCAAGTCTAACTAA
|
| Enzyme 75 GenBank Gene ID |
AB011263  |
| Enzyme 75 GeneCard ID |
SLC7A7  |
| Enzyme 75 GenAtlas ID |
SLC7A7  |
| Enzyme 75 HGNC ID |
HGNC:11065  |
| Enzyme 75 Chromosome Location |
1 |
| Enzyme 75 Locus |
14q11.2 |
| Enzyme 75 SNPs |
SNPJam Report  |
| Enzyme 75 General References |
- Torrents D, Estevez R, Pineda M, Fernandez E, Lloberas J, Shi YB, Zorzano A, Palacin M: Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance. J Biol Chem. 1998 Dec 4;273(49):32437-45. [PubMed
]
- Pfeiffer R, Rossier G, Spindler B, Meier C, Kuhn L, Verrey F: Amino acid transport of y+L-type by heterodimers of 4F2hc/CD98 and members of the glycoprotein-associated amino acid transporter family. EMBO J. 1999 Jan 4;18(1):49-57. [PubMed
]
- Borsani G, Bassi MT, Sperandeo MP, De Grandi A, Buoninconti A, Riboni M, Manzoni M, Incerti B, Pepe A, Andria G, Ballabio A, Sebastio G: SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. Nat Genet. 1999 Mar;21(3):297-301. [PubMed
]
- Noguchi A, Shoji Y, Koizumi A, Takahashi T, Matsumori M, Kayo T, Ohata T, Wada Y, Yoshimura I, Maisawa S, Konishi M, Takasago Y, Takada G: SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families. Hum Mutat. 2000;15(4):367-72. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Dall'Asta V, Bussolati O, Sala R, Rotoli BM, Sebastio G, Sperandeo MP, Andria G, Gazzola GC: Arginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjects. Am J Physiol Cell Physiol. 2000 Dec;279(6):C1829-37. [PubMed
]
- Sala R, Rotoli BM, Colla E, Visigalli R, Parolari A, Bussolati O, Gazzola GC, Dall'Asta V: Two-way arginine transport in human endothelial cells: TNF-alpha stimulation is restricted to system y(+). Am J Physiol Cell Physiol. 2002 Jan;282(1):C134-43. [PubMed
]
- Arancibia-Garavilla Y, Toledo F, Casanello P, Sobrevia L: Nitric oxide synthesis requires activity of the cationic and neutral amino acid transport system y+L in human umbilical vein endothelium. Exp Physiol. 2003 Nov;88(6):699-710. [PubMed
]
- Rotoli BM, Bussolati O, Sala R, Barilli A, Talarico E, Gazzola GC, Dall'Asta V: INFgamma stimulates arginine transport through system y+L in human monocytes. FEBS Lett. 2004 Jul 30;571(1-3):177-81. [PubMed
]
- Rotmann A, Simon A, Martine U, Habermeier A, Closs EI: Activation of classical protein kinase C decreases transport via systems y+ and y+L. Am J Physiol Cell Physiol. 2007 Jun;292(6):C2259-68. Epub 2007 Feb 28. [PubMed
]
- Kaneko S, Ando A, Okuda-Ashitaka E, Maeda M, Furuta K, Suzuki M, Matsumura M, Ito S: Ornithine transport via cationic amino acid transporter-1 is involved in ornithine cytotoxicity in retinal pigment epithelial cells. Invest Ophthalmol Vis Sci. 2007 Jan;48(1):464-71. [PubMed
]
- Torrents D, Mykkanen J, Pineda M, Feliubadalo L, Estevez R, de Cid R, Sanjurjo P, Zorzano A, Nunes V, Huoponen K, Reinikainen A, Simell O, Savontaus ML, Aula P, Palacin M: Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene. Nat Genet. 1999 Mar;21(3):293-6. [PubMed
]
- Sperandeo MP, Bassi MT, Riboni M, Parenti G, Buoninconti A, Manzoni M, Incerti B, Larocca MR, Di Rocco M, Strisciuglio P, Dianzani I, Parini R, Candito M, Endo F, Ballabio A, Andria G, Sebastio G, Borsani G: Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. Am J Hum Genet. 2000 Jan;66(1):92-9. [PubMed
]
- Mykkanen J, Torrents D, Pineda M, Camps M, Yoldi ME, Horelli-Kuitunen N, Huoponen K, Heinonen M, Oksanen J, Simell O, Savontaus ML, Zorzano A, Palacin M, Aula P: Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI). Hum Mol Genet. 2000 Feb 12;9(3):431-8. [PubMed
]
- Shoji Y, Noguchi A, Shoji Y, Matsumori M, Takasago Y, Takayanagi M, Yoshida Y, Ihara K, Hara T, Yamaguchi S, Yoshino M, Kaji M, Yamamoto S, Nakai A, Koizumi A, Hokezu Y, Nagamatsu K, Mikami H, Kitajima I, Takada G: Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance. Hum Mutat. 2002 Nov;20(5):375-81. [PubMed
]
- Sperandeo MP, Paladino S, Maiuri L, Maroupulos GD, Zurzolo C, Taglialatela M, Andria G, Sebastio G: A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance. Eur J Hum Genet. 2005 May;13(5):628-34. [PubMed
]
- Sperandeo MP, Annunziata P, Ammendola V, Fiorito V, Pepe A, Soldovieri MV, Taglialatela M, Andria G, Sebastio G: Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene. Hum Mutat. 2005 Apr;25(4):410. [PubMed
]
- Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE: The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314(5797):268-74. Epub 2006 Sep 7. [PubMed
]
- Sperandeo MP, Andria G, Sebastio G: Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. Hum Mutat. 2008 Jan;29(1):14-21. [PubMed
]
|
| Enzyme 75 Metabolite References |
Not Available |
|
Enzyme 76
[top]
|
| Enzyme 76 ID |
8627 |
| Enzyme 76 Name |
4F2 cell-surface antigen heavy chain |
| Enzyme 76 Synonyms |
- 4F2hc
- 4F2 heavy chain antigen
- Lymphocyte activation antigen 4F2 large subunit
- CD98 antigen
|
| Enzyme 76 Gene Name |
SLC3A2 |
| Enzyme 76 Protein Sequence |
>4F2 cell-surface antigen heavy chain
MELQPPEASIAVVSIPRQLPGSHSEAGVQGLSAGDDSELGSHCVAQTGLELLASGDPLPS
ASQNAEMIETGSDCVTQAGLQLLASSDPPALASKNAEVTGTMSQDTEVDMKEVELNELEP
EKQPMNAASGAAMSLAGAEKNGLVKIKVAEDEAEAAAAAKFTGLSKEELLKVAGSPGWVR
TRWALLLLFWLGWLGMLAGAVVIIVRAPRCRELPAQKWWHTGALYRIGDLQAFQGHGAGN
LAGLKGRLDYLSSLKVKGLVLGPIHKNQKDDVAQTDLLQIDPNFGSKEDFDSLLQSAKKK
SIRVILDLTPNYRGENSWFSTQVDTVATKVKDALEFWLQAGVDGFQVRDIENLKDASSFL
AEWQNITKGFSEDRLLIAGTNSSDLQQILSLLESNKDLLLTSSYLSDSGSTGEHTKSLVT
QYLNATGNRWCSWSLSQARLLTSFLPAQLLRLYQLMLFTLPGTPVFSYGDEIGLDAAALP
GQPMEAPVMLWDESSFPDIPGAVSANMTVKGQSEDPGSLLSLFRRLSDQRSKERSLLHGD
FHAFSAGPGLFSYIRHWDQNERFLVVLNFGDVGLSAGLQASDLPASASLPAKADLLLSTQ
PGREEGSPLELERLKLEPHEGLLLRFPYAA
|
| Enzyme 76 Number of Residues |
630 |
| Enzyme 76 Molecular Weight |
67993.3 |
| Enzyme 76 Theoretical pI |
4.63 |
| Enzyme 76 GO Classification |
| Function |
- binding
- catalytic activity
- cation binding
- ion binding
|
| Process |
- carbohydrate metabolic process
- metabolic process
- primary metabolic process
|
| Component |
| — |
|
| Enzyme 76 General Function |
Involved in catalytic activity |
| Enzyme 76 Specific Function |
Required for the function of light chain amino-acid transporters. Involved in sodium-independent, high-affinity transport of large neutral amino acids such as phenylalanine, tyrosine, leucine, arginine and tryptophan. Involved in guiding and targeting of LAT1 and LAT2 to the plasma membrane. When associated with SLC7A6 or SLC7A7 acts as an arginine/glutamine exchanger, following an antiport mechanism for amino acid transport, influencing arginine release in exchange for extracellular amino acids. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Required for normal and neoplastic cell growth. When associated with SLC7A5/LAT1, is also involved in the transport of L-DOPA across the blood-brain barrier, and that of thyroid hormones triiodothyronine (T3) and thyroxine (T4) across the cell membrane in tissues such as placenta. Involved in the uptake of methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes, and hence plays a role in metal ion homeostasis and toxicity. When associated with SLC7A5 or SLC7A8, involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L- nitrosocysteine (L-CNSO) across the transmembrane. Together with ICAM1, regulates the transport activity LAT2 in polarized intestinal cells, by generating and delivering intracellular signals. When associated with SLC7A5, plays an important role in transporting L-leucine from the circulating blood to the retina across the inner blood-retinal barrier |
| Enzyme 76 Pathways |
Not Available |
| Enzyme 76 Reactions |
Not Available |
| Enzyme 76 Pfam Domain Function |
|
| Enzyme 76 Signals |
|
| Enzyme 76 Transmembrane Regions |
|
| Enzyme 76 Essentiality |
Not Available |
| Enzyme 76 GenBank ID Protein |
65506891  |
| Enzyme 76 UniProtKB/Swiss-Prot ID |
P08195  |
| Enzyme 76 UniProtKB/Swiss-Prot Entry Name |
4F2_HUMAN  |
| Enzyme 76 PDB ID |
Not Available |
| Enzyme 76 Cellular Location |
Not Available |
| Enzyme 76 Gene Sequence |
>1893 bp
ATGGAGCTACAGCCTCCTGAAGCCTCGATCGCCGTCGTGTCGATTCCGCGCCAGTTGCCT
GGCTCACATTCGGAGGCTGGTGTCCAGGGTCTCAGCGCGGGGGACGACTCAGAGTTGGGG
TCTCACTGTGTTGCCCAGACTGGTCTCGAACTCTTGGCCTCAGGTGATCCTCTTCCCTCA
GCTTCCCAGAATGCCGAGATGATAGAGACGGGGTCTGACTGTGTTACCCAGGCTGGTCTT
CAACTCTTGGCCTCAAGTGATCCTCCTGCCTTAGCTTCCAAGAATGCTGAGGTTACAGGC
ACCATGAGCCAGGACACCGAGGTGGATATGAAGGAGGTGGAGCTGAATGAGTTAGAGCCC
GAGAAGCAGCCGATGAACGCGGCGTCTGGGGCGGCCATGTCCCTGGCGGGAGCCGAGAAG
AATGGTCTGGTGAAGATCAAGGTGGCGGAAGACGAGGCGGAGGCGGCAGCCGCGGCTAAG
TTCACGGGCCTGTCCAAGGAGGAGCTGCTGAAGGTGGCAGGCAGCCCCGGCTGGGTACGC
ACCCGCTGGGCACTGCTGCTGCTCTTCTGGCTCGGCTGGCTCGGCATGCTTGCTGGTGCC
GTGGTCATAATCGTGCGAGCGCCGCGTTGTCGCGAGCTACCGGCGCAGAAGTGGTGGCAC
ACGGGCGCCCTCTACCGCATCGGCGACCTTCAGGCCTTCCAGGGCCACGGCGCGGGCAAC
CTGGCGGGTCTGAAGGGGCGTCTCGATTACCTGAGCTCTCTGAAGGTGAAGGGCCTTGTG
CTGGGTCCAATTCACAAGAACCAGAAGGATGATGTCGCTCAGACTGACTTGCTGCAGATC
GACCCCAATTTTGGCTCCAAGGAAGATTTTGACAGTCTCTTGCAATCGGCTAAAAAAAAG
AGCATCCGTGTCATTCTGGACCTTACTCCCAACTACCGGGGTGAGAACTCGTGGTTCTCC
ACTCAGGTTGACACTGTGGCCACCAAGGTGAAGGATGCTCTGGAGTTTTGGCTGCAAGCT
GGCGTGGATGGGTTCCAGGTTCGGGACATAGAGAATCTGAAGGATGCATCCTCATTCTTG
GCTGAGTGGCAAAATATCACCAAGGGCTTCAGTGAAGACAGGCTCTTGATTGCGGGGACT
AACTCCTCCGACCTTCAGCAGATCCTGAGCCTACTCGAATCCAACAAAGACTTGCTGTTG
ACTAGCTCATACCTGTCTGATTCTGGTTCTACTGGGGAGCATACAAAATCCCTAGTCACA
CAGTATTTGAATGCCACTGGCAATCGCTGGTGCAGCTGGAGTTTGTCTCAGGCAAGGCTC
CTGACTTCCTTCTTGCCGGCTCAACTTCTCCGACTCTACCAGCTGATGCTCTTCACCCTG
CCAGGGACCCCTGTTTTCAGCTACGGGGATGAGATTGGCCTGGATGCAGCTGCCCTTCCT
GGACAGCCTATGGAGGCTCCAGTCATGCTGTGGGATGAGTCCAGCTTCCCTGACATCCCA
GGGGCTGTAAGTGCCAACATGACTGTGAAGGGCCAGAGTGAAGACCCTGGCTCCCTCCTT
TCCTTGTTCCGGCGGCTGAGTGACCAGCGGAGTAAGGAGCGCTCCCTACTGCATGGGGAC
TTCCACGCGTTCTCCGCTGGGCCTGGACTCTTCTCCTATATCCGCCACTGGGACCAGAAT
GAGCGTTTTCTGGTAGTGCTTAACTTTGGGGATGTGGGCCTCTCGGCTGGACTGCAGGCC
TCCGACCTGCCTGCCAGCGCCAGCCTGCCAGCCAAGGCTGACCTCCTGCTCAGCACCCAG
CCAGGCCGTGAGGAGGGCTCCCCTCTTGAGCTGGAACGCCTGAAACTGGAGCCTCACGAA
GGGCTGCTGCTCCGCTTCCCCTACGCGGCCTGA
|
| Enzyme 76 GenBank Gene ID |
NM_002394.5  |
| Enzyme 76 GeneCard ID |
SLC3A2  |
| Enzyme 76 GenAtlas ID |
SLC3A2  |
| Enzyme 76 HGNC ID |
HGNC:11026  |
| Enzyme 76 Chromosome Location |
1 |
| Enzyme 76 Locus |
11q13 |
| Enzyme 76 SNPs |
SNPJam Report  |
| Enzyme 76 General References |
- Quackenbush E, Clabby M, Gottesdiener KM, Barbosa J, Jones NH, Strominger JL, Speck S, Leiden JM: Molecular cloning of complementary DNAs encoding the heavy chain of the human 4F2 cell-surface antigen: a type II membrane glycoprotein involved in normal and neoplastic cell growth. Proc Natl Acad Sci U S A. 1987 Sep;84(18):6526-30. [PubMed
]
- Teixeira S, Di Grandi S, Kuhn LC: Primary structure of the human 4F2 antigen heavy chain predicts a transmembrane protein with a cytoplasmic NH2 terminus. J Biol Chem. 1987 Jul 15;262(20):9574-80. [PubMed
]
- Lumadue JA, Glick AB, Ruddle FH: Cloning, sequence analysis, and expression of the large subunit of the human lymphocyte activation antigen 4F2. Proc Natl Acad Sci U S A. 1987 Dec;84(24):9204-8. [PubMed
]
- Gottesdiener KM, Karpinski BA, Lindsten T, Strominger JL, Jones NH, Thompson CB, Leiden JM: Isolation and structural characterization of the human 4F2 heavy-chain gene, an inducible gene involved in T-lymphocyte activation. Mol Cell Biol. 1988 Sep;8(9):3809-19. [PubMed
]
- Yanagida O, Kanai Y, Chairoungdua A, Kim DK, Segawa H, Nii T, Cha SH, Matsuo H, Fukushima J, Fukasawa Y, Tani Y, Taketani Y, Uchino H, Kim JY, Inatomi J, Okayasu I, Miyamoto K, Takeda E, Goya T, Endou H: Human L-type amino acid transporter 1 (LAT1): characterization of function and expression in tumor cell lines. Biochim Biophys Acta. 2001 Oct 1;1514(2):291-302. [PubMed
]
- Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E, Chang JL, Cuomo CA, Eichler E, FitzGerald MG, Jaffe DB, LaButti K, Nicol R, Park HS, Seaman C, Sougnez C, Yang X, Zimmer AR, Zody MC, Birren BW, Nusbaum C, Fujiyama A, Hattori M, Rogers J, Lander ES, Sakaki Y: Human chromosome 11 DNA sequence and analysis including novel gene identification. Nature. 2006 Mar 23;440(7083):497-500. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Torrents D, Estevez R, Pineda M, Fernandez E, Lloberas J, Shi YB, Zorzano A, Palacin M: Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance. J Biol Chem. 1998 Dec 4;273(49):32437-45. [PubMed
]
- Mastroberardino L, Spindler B, Pfeiffer R, Skelly PJ, Loffing J, Shoemaker CB, Verrey F: Amino-acid transport by heterodimers of 4F2hc/CD98 and members of a permease family. Nature. 1998 Sep 17;395(6699):288-91. [PubMed
]
- Pfeiffer R, Rossier G, Spindler B, Meier C, Kuhn L, Verrey F: Amino acid transport of y+L-type by heterodimers of 4F2hc/CD98 and members of the glycoprotein-associated amino acid transporter family. EMBO J. 1999 Jan 4;18(1):49-57. [PubMed
]
- Broer A, Wagner CA, Lang F, Broer S: The heterodimeric amino acid transporter 4F2hc/y+LAT2 mediates arginine efflux in exchange with glutamine. Biochem J. 2000 Aug 1;349 Pt 3:787-95. [PubMed
]
- Broer A, Friedrich B, Wagner CA, Fillon S, Ganapathy V, Lang F, Broer S: Association of 4F2hc with light chains LAT1, LAT2 or y+LAT2 requires different domains. Biochem J. 2001 May 1;355(Pt 3):725-31. [PubMed
]
- Ritchie JW, Taylor PM: Role of the System L permease LAT1 in amino acid and iodothyronine transport in placenta. Biochem J. 2001 Jun 15;356(Pt 3):719-25. [PubMed
]
- Kolesnikova TV, Mannion BA, Berditchevski F, Hemler ME: Beta1 integrins show specific association with CD98 protein in low density membranes. BMC Biochem. 2001;2:10. Epub 2001 Oct 15. [PubMed
]
- Friesema EC, Docter R, Moerings EP, Verrey F, Krenning EP, Hennemann G, Visser TJ: Thyroid hormone transport by the heterodimeric human system L amino acid transporter. Endocrinology. 2001 Oct;142(10):4339-48. [PubMed
]
- Okamoto Y, Sakata M, Ogura K, Yamamoto T, Yamaguchi M, Tasaka K, Kurachi H, Tsurudome M, Murata Y: Expression and regulation of 4F2hc and hLAT1 in human trophoblasts. Am J Physiol Cell Physiol. 2002 Jan;282(1):C196-204. [PubMed
]
- He X, Di Y, Li J, Xie Y, Tang Y, Zhang F, Wei L, Zhang Y, Qin W, Huo K, Li Y, Wan D, Gu J: Molecular cloning and characterization of CT120, a novel membrane-associated gene involved in amino acid transport and glutathione metabolism. Biochem Biophys Res Commun. 2002 Sep 27;297(3):528-36. [PubMed
]
- Simmons-Willis TA, Koh AS, Clarkson TW, Ballatori N: Transport of a neurotoxicant by molecular mimicry: the methylmercury-L-cysteine complex is a substrate for human L-type large neutral amino acid transporter (LAT) 1 and LAT2. Biochem J. 2002 Oct 1;367(Pt 1):239-46. [PubMed
]
- Kim DK, Kanai Y, Choi HW, Tangtrongsup S, Chairoungdua A, Babu E, Tachampa K, Anzai N, Iribe Y, Endou H: Characterization of the system L amino acid transporter in T24 human bladder carcinoma cells. Biochim Biophys Acta. 2002 Sep 20;1565(1):112-21. [PubMed
]
- Harris RA, Yang A, Stein RC, Lucy K, Brusten L, Herath A, Parekh R, Waterfield MD, O'Hare MJ, Neville MA, Page MJ, Zvelebil MJ: Cluster analysis of an extensive human breast cancer cell line protein expression map database. Proteomics. 2002 Feb;2(2):212-23. [PubMed
]
- Arancibia-Garavilla Y, Toledo F, Casanello P, Sobrevia L: Nitric oxide synthesis requires activity of the cationic and neutral amino acid transport system y+L in human umbilical vein endothelium. Exp Physiol. 2003 Nov;88(6):699-710. [PubMed
]
- Liu X, Charrier L, Gewirtz A, Sitaraman S, Merlin D: CD98 and intracellular adhesion molecule I regulate the activity of amino acid transporter LAT-2 in polarized intestinal epithelia. J Biol Chem. 2003 Jun 27;278(26):23672-7. Epub 2003 Apr 25. [PubMed
]
- Zhang H, Li XJ, Martin DB, Aebersold R: Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry. Nat Biotechnol. 2003 Jun;21(6):660-6. Epub 2003 May 18. [PubMed
]
- Tomi M, Mori M, Tachikawa M, Katayama K, Terasaki T, Hosoya K: L-type amino acid transporter 1-mediated L-leucine transport at the inner blood-retinal barrier. Invest Ophthalmol Vis Sci. 2005 Jul;46(7):2522-30. [PubMed
]
- Li S, Whorton AR: Identification of stereoselective transporters for S-nitroso-L-cysteine: role of LAT1 and LAT2 in biological activity of S-nitrosothiols. J Biol Chem. 2005 May 20;280(20):20102-10. Epub 2005 Mar 15. [PubMed
]
- Liu T, Qian WJ, Gritsenko MA, Camp DG 2nd, Monroe ME, Moore RJ, Smith RD: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. J Proteome Res. 2005 Nov-Dec;4(6):2070-80. [PubMed
]
- Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. Cell. 2006 Nov 3;127(3):635-48. [PubMed
]
- Nawashiro H, Otani N, Shinomiya N, Fukui S, Ooigawa H, Shima K, Matsuo H, Kanai Y, Endou H: L-type amino acid transporter 1 as a potential molecular target in human astrocytic tumors. Int J Cancer. 2006 Aug 1;119(3):484-92. [PubMed
]
- Chi A, Valencia JC, Hu ZZ, Watabe H, Yamaguchi H, Mangini NJ, Huang H, Canfield VA, Cheng KC, Yang F, Abe R, Yamagishi S, Shabanowitz J, Hearing VJ, Wu C, Appella E, Hunt DF: Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. J Proteome Res. 2006 Nov;5(11):3135-44. [PubMed
]
- Meierhofer D, Wang X, Huang L, Kaiser P: Quantitative analysis of global ubiquitination in HeLa cells by mass spectrometry. J Proteome Res. 2008 Oct;7(10):4566-76. Epub 2008 Sep 10. [PubMed
]
- Nguyen HT, Dalmasso G, Yan Y, Obertone TS, Sitaraman SV, Merlin D: Ecto-phosphorylation of CD98 regulates cell-cell interactions. PLoS One. 2008;3(12):e3895. Epub 2008 Dec 9. [PubMed
]
- Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. J Proteome Res. 2009 Feb;8(2):651-61. [PubMed
]
- Wollscheid B, Bausch-Fluck D, Henderson C, O'Brien R, Bibel M, Schiess R, Aebersold R, Watts JD: Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins. Nat Biotechnol. 2009 Apr;27(4):378-86. Epub 2009 Apr 6. [PubMed
]
- Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. Sci Signal. 2009 Aug 18;2(84):ra46. [PubMed
]
- Fort J, de la Ballina LR, Burghardt HE, Ferrer-Costa C, Turnay J, Ferrer-Orta C, Uson I, Zorzano A, Fernandez-Recio J, Orozco M, Lizarbe MA, Fita I, Palacin M: The structure of human 4F2hc ectodomain provides a model for homodimerization and electrostatic interaction with plasma membrane. J Biol Chem. 2007 Oct 26;282(43):31444-52. Epub 2007 Aug 26. [PubMed
]
|
| Enzyme 76 Metabolite References |
Not Available |
|
Enzyme 77
[top]
|
| Enzyme 77 ID |
8631 |
| Enzyme 77 Name |
Excitatory amino acid transporter 3 |
| Enzyme 77 Synonyms |
- Excitatory amino-acid carrier 1
- Neuronal and epithelial glutamate transporter
- Sodium-dependent glutamate/aspartate transporter 3
- Solute carrier family 1 member 1
|
| Enzyme 77 Gene Name |
SLC1A1 |
| Enzyme 77 Protein Sequence |
>Excitatory amino acid transporter 3
MGKPARKGCEWKRFLKNNWVLLSTVAAVVLGITTGVLVREHSNLSTLEKFYFAFPGEILM
RMLKLIILPLIISSMITGVAALDSNVSGKIGLRAVVYYFCTTLIAVILGIVLVVSIKPGV
TQKVGEIARTGSTPEVSTVDAMLDLIRNMFPENLVQACFQQYKTKREEVKPPSDPEMNMT
EESFTAVMTTAISKNKTKEYKIVGMYSDGINVLGLIVFCLVFGLVIGKMGEKGQILVDFF
NALSDATMKIVQIIMCYMPLGILFLIAGKIIEVEDWEIFRKLGLYMATVLTGLAIHSIVI
LPLIYFIVVRKNPFRFAMGMAQALLTALMISSSSATLPVTFRCAEENNQVDKRITRFVLP
VGATINMDGTALYEAVAAVFIAQLNDLDLGIGQIITISITATSASIGAAGVPQAGLVTMV
IVLSAVGLPAEDVTLIIAVDWLLDRFRTMVNVLGDAFGTGIVEKLSKKELEQMDVSSEVN
IVNPFALESTILDNEDSDTKKSYVNGGFAVDKSDTISFTQTSQF
|
| Enzyme 77 Number of Residues |
524 |
| Enzyme 77 Molecular Weight |
57099.8 |
| Enzyme 77 Theoretical pI |
5.36 |
| Enzyme 77 GO Classification |
| Function |
- carboxylic acid transmembrane transporter activity
- dicarboxylic acid transmembrane transporter activity
- organic acid transmembrane transporter activity
- sodium:dicarboxylate symporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- carboxylic acid transport
- dicarboxylic acid transport
- establishment of localization
- organic acid transport
- transport
|
| Component |
|
|
| Enzyme 77 General Function |
Involved in sodium:dicarboxylate symporter activity |
| Enzyme 77 Specific Function |
Transports L-glutamate and also L- and D-aspartate. Essential for terminating the postsynaptic action of glutamate by rapidly removing released glutamate from the synaptic cleft. Acts as a symport by cotransporting sodium. Negatively regulated by ARL6IP5 |
| Enzyme 77 Pathways |
Not Available |
| Enzyme 77 Reactions |
Not Available |
| Enzyme 77 Pfam Domain Function |
|
| Enzyme 77 Signals |
|
| Enzyme 77 Transmembrane Regions |
- 19-38
62-82
94-114
210-229
254-273
290-309
316-335
362-381
392-411
420-439
|
| Enzyme 77 Essentiality |
Not Available |
| Enzyme 77 GenBank ID Protein |
18157236  |
| Enzyme 77 UniProtKB/Swiss-Prot ID |
P43005  |
| Enzyme 77 UniProtKB/Swiss-Prot Entry Name |
EAA3_HUMAN  |
| Enzyme 77 PDB ID |
Not Available |
| Enzyme 77 Cellular Location |
Not Available |
| Enzyme 77 Gene Sequence |
>1575 bp
ATGGGGAAACCGGCGAGGAAAGGATGCGAGTGGAAGCGCTTCCTGAAGAATAACTGGGTG
TTGCTGTCCACCGTGGCCGCGGTGGTGCTAGGCATTACCACAGGAGTCTTGGTTCGAGAA
CACAGCAACCTCTCAACTCTAGAGAAATTCTACTTTGCTTTTCCTGGAGAAATTCTAATG
CGGATGCTGAAACTCATCATTTTGCCATTAATTATATCCAGCATGATTACAGGTGTTGCT
GCACTGGATTCCAACGTATCCGGAAAAATTGGTCTGCGCGCTGTCGTGTATTATTTCTGT
ACCACTCTCATTGCTGTTATTCTAGGTATTGTGCTGGTGGTGAGCATCAAGCCTGGTGTC
ACCCAGAAAGTGGGTGAAATTGCGAGGACAGGCAGCACCCCTGAAGTCAGTACAGTGGAT
GCCATGTTAGATCTCATCAGGAATATGTTCCCTGAGAATCTTGTCCAGGCCTGTTTTCAG
CAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACA
GAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGAACAAAACAAAGGAATAC
AAAATTGTTGGCATGTATTCAGATGGCATAAACGTCCTGGGCTTGATTGTCTTTTGCCTT
GTCTTTGGACTTGTCATTGGAAAAATGGGAGAAAAGGGACAAATTCTGGTGGATTTCTTC
AATGCTTTGAGTGATGCAACCATGAAAATCGTTCAGATCATCATGTGTTATATGCCACTA
GGTATTTTGTTCCTGATTGCTGGGAAGATCATAGAAGTTGAAGACTGGGAAATATTCCGC
AAGCTGGGCCTTTACATGGCCACAGTCCTGACTGGGCTTGCAATCCACTCCATTGTAATT
CTCCCGCTGATATATTTCATAGTCGTACGAAAGAACCCTTTCCGATTTGCCATGGGAATG
GCCCAGGCTCTCCTGACAGCTCTCATGATCTCTTCCAGTTCAGCAACACTGCCTGTCACC
TTCCGCTGTGCTGAAGAAAATAACCAGGTGGACAAGAGGATCACTCGATTCGTGTTACCC
GTTGGTGCAACAATCAACATGGATGGGACTGCGCTCTATGAAGCAGTGGCAGCGGTGTTT
ATTGCACAGTTGAATGACCTGGACTTGGGCATTGGGCAGATCATCACCATCAGTATCACG
GCCACATCTGCCAGCATCGGAGCTGCTGGCGTGCCCCAGGCTGGCCTGGTGACCATGGTG
ATTGTGCTGAGTGCCGTGGGCCTGCCCGCCGAGGATGTCACCCTGATCATTGCTGTCGAC
TGGCTCCTGGACCGGTTCAGGACCATGGTCAACGTCCTTGGTGATGCTTTTGGGACGGGC
ATTGTGGAAAAGCTCTCCAAGAAGGAGCTGGAGCAGATGGATGTTTCATCTGAAGTCAAC
ATTGTGAATCCCTTTGCCTTGGAATCCACAATCCTTGACAACGAAGACTCAGACACCAAG
AAGTCTTATGTCAATGGAGGCTTTGCAGTAGACAAGTCTGACACCATCTCATTCACCCAG
ACCTCACAGTTCTAG
|
| Enzyme 77 GenBank Gene ID |
AB008536  |
| Enzyme 77 GeneCard ID |
SLC1A1  |
| Enzyme 77 GenAtlas ID |
SLC1A1  |
| Enzyme 77 HGNC ID |
HGNC:10939  |
| Enzyme 77 Chromosome Location |
9 |
| Enzyme 77 Locus |
9p24 |
| Enzyme 77 SNPs |
SNPJam Report  |
| Enzyme 77 General References |
- Shashidharan P, Huntley GW, Meyer T, Morrison JH, Plaitakis A: Neuron-specific human glutamate transporter: molecular cloning, characterization and expression in human brain. Brain Res. 1994 Oct 31;662(1-2):245-50. [PubMed
]
- Kanai Y, Stelzner M, Nussberger S, Khawaja S, Hebert SC, Smith CP, Hediger MA: The neuronal and epithelial human high affinity glutamate transporter. Insights into structure and mechanism of transport. J Biol Chem. 1994 Aug 12;269(32):20599-606. [PubMed
]
- Arriza JL, Fairman WA, Wadiche JI, Murdoch GH, Kavanaugh MP, Amara SG: Functional comparisons of three glutamate transporter subtypes cloned from human motor cortex. J Neurosci. 1994 Sep;14(9):5559-69. [PubMed
]
- Veenstra-VanderWeele J, Kim SJ, Gonen D, Hanna GL, Leventhal BL, Cook EH Jr: Genomic organization of the SLC1A1/EAAC1 gene and mutation screening in early-onset obsessive-compulsive disorder. Mol Psychiatry. 2001 Mar;6(2):160-7. [PubMed
]
- Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL, Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R, Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H, Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ, Bentley DR, Beck S, Rogers J, Dunham I: DNA sequence and analysis of human chromosome 9. Nature. 2004 May 27;429(6990):369-74. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
|
| Enzyme 77 Metabolite References |
Not Available |
|
Enzyme 78
[top]
|
| Enzyme 78 ID |
8632 |
| Enzyme 78 Name |
Sodium/potassium/calcium exchanger 2 |
| Enzyme 78 Synonyms |
- Na(+)/K(+)/Ca(2+)-exchange protein 2
- Retinal cone Na-Ca+K exchanger
- Solute carrier family 24 member 2
|
| Enzyme 78 Gene Name |
SLC24A2 |
| Enzyme 78 Protein Sequence |
>Sodium/potassium/calcium exchanger 2
MDLQQSTTITSLEKWCLDESLSGCRRHYSVKKKLKLIRVLGLFMGLVAISTVSFSISAFS
ETDTQSTGEASVVSGPRVAQGYHQRTLLDLNDKILDYTPQPPLSKEGESENSTDHAQGDY
PKDIFSLEERRKGAIILHVIGMIYMFIALAIVCDEFFVPSLTVITEKLGISDDVAGATFM
AAGGSAPELFTSLIGVFIAHSNVGIGTIVGSAVFNILFVIGMCALFSREILNLTWWPLFR
DVSFYIVDLIMLIIFFLDNVIMWWESLLLLTAYFCYVVFMKFNVQVEKWVKQMINRNKVV
KVTAPEAQAKPSAARDKDEPTLPAKPRLQRGGSSASLHNSLMRNSIFQLMIHTLDPLAEE
LGSYGKLKYYDTMTEEGRFREKASILHKIAKKKCHVDENERQNGAANHVEKIELPNSTST
DVEMTPSSDASEPVQNGNLSHNIEGAEAQTADEEEDQPLSLAWPSETRKQVTFLIVFPIV
FPLWITLPDVRKPSSRKFFPITFFGSITWIAVFSYLMVWWAHQVGETIGISEEIMGLTIL
AAGTSIPDLITSVIVARKGLGDMAVSSSVGSNIFDITVGLPLPWLLYTVIHRFQPVAVSS
NGLFCAIVLLFIMLLFVILSIALCKWRMNKILGFIMFGLYFVFLVVSVLLEDRILTCPVS
I
|
| Enzyme 78 Number of Residues |
661 |
| Enzyme 78 Molecular Weight |
73663.1 |
| Enzyme 78 Theoretical pI |
5.94 |
| Enzyme 78 GO Classification |
| Function |
| — |
| Process |
- establishment of localization
- transmembrane transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane part
|
|
| Enzyme 78 General Function |
Inorganic ion transport and metabolism |
| Enzyme 78 Specific Function |
Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and darkness. Light causes a rapid lowering of cytosolic free calcium in the outer segment of both retinal rod and cone photoreceptors and the light-induced lowering of calcium is caused by extrusion via this protein which plays a key role in the process of light adaptation. Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+) |
| Enzyme 78 Pathways |
Not Available |
| Enzyme 78 Reactions |
Not Available |
| Enzyme 78 Pfam Domain Function |
|
| Enzyme 78 Signals |
|
| Enzyme 78 Transmembrane Regions |
- 133-153
179-199
205-225
244-264
266-286
470-490
498-518
534-554
570-590
603-623
631-651
|
| Enzyme 78 Essentiality |
Not Available |
| Enzyme 78 GenBank ID Protein |
6650379  |
| Enzyme 78 UniProtKB/Swiss-Prot ID |
Q9UI40  |
| Enzyme 78 UniProtKB/Swiss-Prot Entry Name |
NCKX2_HUMAN  |
| Enzyme 78 PDB ID |
Not Available |
| Enzyme 78 Cellular Location |
Not Available |
| Enzyme 78 Gene Sequence |
>1986 bp
ATGGATCTGCAACAAAGCACCACCATCACTTCCCTAGAGAAATGGTGTTTGGATGAGTCA
CTGTCTGGCTGCAGAAGACATTATAGTGTCAAGAAAAAACTGAAGTTAATTCGAGTCTTA
GGCCTTTTCATGGGTCTGGTAGCCATTAGCACTGTCTCATTTTCAATCAGTGCCTTTTCT
GAGACAGATACACAGAGCACAGGAGAGGCCAGTGTTGTAAGTGGCCCTAGGGTAGCACAG
GGTTACCATCAGAGAACTCTCTTAGATTTAAATGACAAGATTCTGGATTATACTCCACAG
CCACCTCTTTCTAAGGAAGGCGAGTCTGAGAATAGTACAGATCACGCCCAAGGAGACTAC
CCGAAAGACATCTTTTCCCTTGAGGAGAGAAGAAAAGGTGCGATCATTCTGCATGTCATT
GGAATGATCTACATGTTCATAGCCTTAGCCATTGTCTGTGATGAGTTCTTTGTTCCTTCT
TTGACTGTCATCACTGAAAAACTGGGCATCTCTGATGATGTGGCTGGAGCCACCTTCATG
GCTGCAGGAGGGTCAGCCCCAGAACTTTTCACATCTCTCATAGGGGTATTTATCGCTCAC
AGCAACGTTGGCATAGGCACAATTGTAGGTTCAGCAGTATTCAACATCCTCTTTGTTATT
GGCATGTGTGCTCTGTTTTCTAGAGAAATCTTAAACCTGACATGGTGGCCGCTCTTTCGA
GATGTGTCTTTCTACATTGTTGACTTGATCATGCTGATCATATTTTTCCTGGATAATGTC
ATCATGTGGTGGGAAAGCTTGCTTCTCTTAACAGCTTATTTTTGCTATGTGGTTTTCATG
AAATTCAACGTCCAAGTAGAAAAATGGGTGAAGCAAATGATAAACCGCAATAAGGTCGTC
AAGGTGACAGCACCAGAAGCCCAAGCAAAGCCATCTGCAGCCAGGGACAAGGATGAACCG
ACTCTACCGGCTAAGCCGCGTCTCCAGCGAGGTGGAAGCTCTGCCTCCCTCCACAACAGT
CTCATGAGGAATAGCATCTTCCAACTCATGATACACACCCTTGACCCACTCGCCGAAGAA
CTTGGATCATATGGAAAACTAAAATATTATGACACAATGACTGAAGAAGGGAGGTTCAGA
GAAAAGGCTTCAATTCTCCACAAGATCGCCAAGAAGAAATGTCATGTGGATGAGAACGAG
CGGCAGAATGGGGCTGCCAACCACGTGGAAAAAATTGAGCTTCCAAACAGCACCAGCACA
GATGTTGAAATGACACCATCCAGTGATGCTTCAGAACCTGTACAAAATGGAAATCTCTCC
CACAACATTGAAGGTGCAGAAGCCCAGACCGCTGATGAGGAGGAGGACCAGCCTCTCAGC
CTTGCCTGGCCTTCTGAAACCCGCAAGCAAGTCACGTTTCTGATTGTTTTCCCCATAGTG
TTTCCTCTCTGGATTACGTTACCTGACGTTCGCAAACCTTCATCGAGGAAGTTTTTTCCC
ATCACGTTCTTTGGCTCCATTACCTGGATTGCAGTATTCTCTTACTTGATGGTCTGGTGG
GCGCACCAGGTTGGAGAGACAATTGGCATCAGTGAAGAGATTATGGGCCTGACCATCTTG
GCTGCTGGGACCTCCATCCCTGATCTTATCACCAGTGTCATAGTGGCCCGGAAGGGGTTA
GGGGACATGGCTGTGTCCAGCTCTGTTGGAAGCAACATTTTTGACATCACTGTAGGGCTC
CCACTGCCCTGGCTCCTGTACACCGTCATTCACAGATTCCAGCCAGTGGCTGTCAGCAGC
AATGGCCTTTTCTGTGCCATCGTCCTTCTCTTCATCATGCTGCTCTTCGTCATCCTCTCT
ATCGCCCTCTGCAAGTGGCGAATGAACAAAATCCTGGGCTTCATCATGTTTGGCCTCTAC
TTTGTGTTCCTGGTGGTGAGCGTTCTCCTAGAAGACAGAATTCTTACATGCCCCGTCTCC
ATCTAG
|
| Enzyme 78 GenBank Gene ID |
AF097366  |
| Enzyme 78 GeneCard ID |
SLC24A2  |
| Enzyme 78 GenAtlas ID |
Not Available |
| Enzyme 78 HGNC ID |
Not Available |
| Enzyme 78 Chromosome Location |
9 |
| Enzyme 78 Locus |
9p22-p13 |
| Enzyme 78 SNPs |
SNPJam Report  |
| Enzyme 78 General References |
- Prinsen CF, Szerencsei RT, Schnetkamp PP: Molecular cloning and functional expression of the potassium-dependent sodium-calcium exchanger from human and chicken retinal cone photoreceptors. J Neurosci. 2000 Feb 15;20(4):1424-34. [PubMed
]
- Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL, Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R, Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H, Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ, Bentley DR, Beck S, Rogers J, Dunham I: DNA sequence and analysis of human chromosome 9. Nature. 2004 May 27;429(6990):369-74. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
|
| Enzyme 78 Metabolite References |
Not Available |
|
Enzyme 79
[top]
|
| Enzyme 79 ID |
8635 |
| Enzyme 79 Name |
Solute carrier family 13 member 4 |
| Enzyme 79 Synonyms |
- Na(+)/sulfate cotransporter SUT-1
- NaS2
|
| Enzyme 79 Gene Name |
SLC13A4 |
| Enzyme 79 Protein Sequence |
>Solute carrier family 13 member 4
MGLLQGLLRVRKLLLVVCVPLLLLPLPVLHPSSEASCAYVLIVTAVYWVSEAVPLGAAAL
VPAFLYPFFGVLRSNEVAAEYFKNTTLLLVGVICVAAAVEKWNLHKRIALRMVLMAGAKP
GMLLLCFMCCTTLLSMWLSNTSTTAMVMPIVEAVLQELVSAEDEQLVAGNSNTEEAEPIS
LDVKNSQPSLELIFVNEESNADLTTLMHNENLNGVPSITNPIKTANQHQGKKQHPSQEKP
QVLTPSPRKQKLNRKYRSHHDQMICKCLSLSISYSATIGGLTTIIGTSTSLIFLEHFNNQ
YPAAEVVNFGTWFLFSFPISLIMLVVSWFWMHWLFLGCNFKETCSLSKKKKTKREQLSEK
RIQEEYEKLGDISYPEMVTGFFFILMTVLWFTREPGFVPGWDSFFEKKGYRTDATVSVFL
GFLLFLIPAKKPCFGKKNDGENQEHSLGTEPIITWKDFQKTMPWEIVILVGGGYALASGS
KSSGLSTWIGNQMLSLSSLPPWAVTLLACILVSIVTEFVSNPATITIFLPILCSLSETLH
INPLYTLIPVTMCISFAVMLPVGNPPNAIVFSYGHCQIKDMVKAGLGVNVIGLVIVMVAI
NTWGVSLFHLDTYPAWARVSNITDQA
|
| Enzyme 79 Number of Residues |
626 |
| Enzyme 79 Molecular Weight |
69357.9 |
| Enzyme 79 Theoretical pI |
7.45 |
| Enzyme 79 GO Classification |
| Function |
|
| Process |
- cation transport
- establishment of localization
- ion transport
- monovalent inorganic cation transport
- sodium ion transport
- transmembrane transport
- transport
|
| Component |
|
|
| Enzyme 79 General Function |
Involved in transporter activity |
| Enzyme 79 Specific Function |
Sodium/sulfate cotransporter that mediates sulfate reabsorption in the high endothelial venules (HEV) |
| Enzyme 79 Pathways |
Not Available |
| Enzyme 79 Reactions |
Not Available |
| Enzyme 79 Pfam Domain Function |
|
| Enzyme 79 Signals |
|
| Enzyme 79 Transmembrane Regions |
- 13-33
52-72
77-97
113-133
274-294
309-329
372-392
414-434
466-486
499-519
543-563
590-610
|
| Enzyme 79 Essentiality |
Not Available |
| Enzyme 79 GenBank ID Protein |
31795546  |
| Enzyme 79 UniProtKB/Swiss-Prot ID |
Q9UKG4  |
| Enzyme 79 UniProtKB/Swiss-Prot Entry Name |
S13A4_HUMAN  |
| Enzyme 79 PDB ID |
Not Available |
| Enzyme 79 Cellular Location |
Not Available |
| Enzyme 79 Gene Sequence |
>1881 bp
ATGGGCCTGCTGCAGGGCCTGCTCCGAGTCCGGAAGCTGCTGCTGGTCGTCTGCGTCCCG
CTCCTGCTGCTGCCTCTGCCCGTCCTCCACCCCAGCAGCGAGGCCTCGTGTGCTTACGTG
CTGATCGTGACTGCTGTGTACTGGGTGTCGGAGGCAGTGCCTCTGGGAGCTGCAGCCCTG
GTGCCGGCCTTCCTTTACCCGTTCTTCGGAGTCCTCCGGTCCAATGAGGTGGCGGCGGAG
TACTTCAAGAACACCACGCTGCTGCTGGTGGGGGTCATCTGCGTGGCGGCTGCCGTGGAG
AAGTGGAACCTGCATAAGCGCATTGCTCTGCGCATGGTCTTGATGGCCGGAGCCAAGCCG
GGCATGCTGCTGCTCTGCTTCATGTGCTGTACCACGTTGCTGTCCATGTGGCTGTCCAAC
ACCTCCACCACCGCCATGGTGATGCCCATCGTGGAGGCCGTGCTGCAGGAGCTGGTCAGT
GCTGAGGACGAGCAGCTCGTGGCGGGCAACTCCAACACCGAAGAGGCCGAACCCATCAGT
CTGGATGTAAAGAACAGCCAACCTTCTCTGGAACTCATCTTTGTCAATGAAGAGTCCAAC
GCAGACCTCACCACTCTGATGCACAACGAGAACCTGAATGGTGTGCCCTCGATCACCAAC
CCCATCAAAACTGCAAACCAACACCAGGGCAAGAAGCAACACCCATCCCAGGAAAAGCCA
CAAGTCCTGACCCCCAGCCCCAGGAAGCAGAAGCTGAACAGAAAGTACAGGTCCCACCAT
GACCAGATGATCTGCAAGTGCCTCTCCCTGAGCATATCCTACTCCGCTACCATTGGCGGC
CTGACCACCATCATCGGCACCTCCACCAGCCTCATCTTCCTGGAACACTTCAACAACCAG
TATCCAGCCGCAGAGGTGGTGAACTTTGGCACCTGGTTCCTCTTCAGCTTCCCCATATCC
CTCATCATGCTGGTGGTCAGCTGGTTCTGGATGCACTGGCTGTTCCTGGGCTGCAATTTT
AAAGAGACCTGCTCTCTGAGCAAGAAGAAGAAGACCAAAAGGGAACAGTTGTCAGAGAAG
AGGATCCAAGAAGAATATGAAAAACTGGGAGACATTAGCTACCCAGAAATGGTGACTGGA
TTTTTCTTCATCCTGATGACCGTACTGTGGTTTACCCGGGAGCCTGGCTTTGTCCCTGGC
TGGGATTCTTTCTTTGAAAAGAAAGGCTACCGTACTGATGCCACAGTCTCTGTCTTCCTT
GGCTTCCTCCTCTTCCTCATTCCAGCGAAGAAGCCCTGCTTTGGGAAAAAGAATGATGGA
GAGAACCAGGAGCACTCACTGGGGACCGAGCCCATCATCACGTGGAAGGACTTCCAGAAG
ACCATGCCCTGGGAGATTGTCATTCTGGTTGGGGGAGGCTATGCTCTGGCTTCTGGTAGC
AAGAGCTCTGGCCTCTCTACATGGATTGGGAACCAGATGTTGTCCCTGAGCAGCCTCCCA
CCGTGGGCTGTCACCCTGCTGGCATGCATCCTCGTGTCCATTGTCACTGAGTTTGTGAGC
AACCCAGCAACCATCACCATCTTCCTGCCCATCCTGTGCAGCCTGTCTGAAACGCTGCAC
ATTAACCCCCTCTACACCCTGATCCCAGTCACCATGTGCATCTCCTTTGCAGTGATGCTG
CCTGTGGGCAATCCCCCTAATGCCATCGTCTTCAGCTATGGGCACTGCCAGATCAAAGAT
ATGGTGAAAGCTGGCCTGGGAGTCAACGTTATTGGACTGGTGATAGTAATGGTGGCCATC
AACACCTGGGGAGTTAGCCTCTTCCACCTGGACACTTACCCAGCATGGGCGAGGGTCAGC
AACATCACTGATCAAGCCTAA
|
| Enzyme 79 GenBank Gene ID |
NM_012450.2  |
| Enzyme 79 GeneCard ID |
SLC13A4  |
| Enzyme 79 GenAtlas ID |
SLC13A4  |
| Enzyme 79 HGNC ID |
HGNC:15827  |
| Enzyme 79 Chromosome Location |
7 |
| Enzyme 79 Locus |
7q33 |
| Enzyme 79 SNPs |
SNPJam Report  |
| Enzyme 79 General References |
- Girard JP, Baekkevold ES, Feliu J, Brandtzaeg P, Amalric F: Molecular cloning and functional analysis of SUT-1, a sulfate transporter from human high endothelial venules. Proc Natl Acad Sci U S A. 1999 Oct 26;96(22):12772-7. [PubMed
]
- Hillier LW, Fulton RS, Fulton LA, Graves TA, Pepin KH, Wagner-McPherson C, Layman D, Maas J, Jaeger S, Walker R, Wylie K, Sekhon M, Becker MC, O'Laughlin MD, Schaller ME, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Cordes M, Du H, Sun H, Edwards J, Bradshaw-Cordum H, Ali J, Andrews S, Isak A, Vanbrunt A, Nguyen C, Du F, Lamar B, Courtney L, Kalicki J, Ozersky P, Bielicki L, Scott K, Holmes A, Harkins R, Harris A, Strong CM, Hou S, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Leonard S, Rohlfing T, Rock SM, Tin-Wollam AM, Abbott A, Minx P, Maupin R, Strowmatt C, Latreille P, Miller N, Johnson D, Murray J, Woessner JP, Wendl MC, Yang SP, Schultz BR, Wallis JW, Spieth J, Bieri TA, Nelson JO, Berkowicz N, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Bedell JA, Mardis ER, Clifton SW, Chissoe SL, Marra MA, Raymond C, Haugen E, Gillett W, Zhou Y, James R, Phelps K, Iadanoto S, Bubb K, Simms E, Levy R, Clendenning J, Kaul R, Kent WJ, Furey TS, Baertsch RA, Brent MR, Keibler E, Flicek P, Bork P, Suyama M, Bailey JA, Portnoy ME, Torrents D, Chinwalla AT, Gish WR, Eddy SR, McPherson JD, Olson MV, Eichler EE, Green ED, Waterston RH, Wilson RK: The DNA sequence of human chromosome 7. Nature. 2003 Jul 10;424(6945):157-64. [PubMed
]
- Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Dohner H, Dohner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC: Human chromosome 7: DNA sequence and biology. Science. 2003 May 2;300(5620):767-72. Epub 2003 Apr 10. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Markovich D, Regeer RR, Kunzelmann K, Dawson PA: Functional characterization and genomic organization of the human Na(+)-sulfate cotransporter hNaS2 gene (SLC13A4). Biochem Biophys Res Commun. 2005 Jan 28;326(4):729-34. [PubMed
]
|
| Enzyme 79 Metabolite References |
Not Available |
|
Enzyme 80
[top]
|
| Enzyme 80 ID |
8636 |
| Enzyme 80 Name |
Solute carrier family 12 member 3 |
| Enzyme 80 Synonyms |
- Na-Cl symporter
- Thiazide-sensitive sodium-chloride cotransporter
|
| Enzyme 80 Gene Name |
SLC12A3 |
| Enzyme 80 Protein Sequence |
>Solute carrier family 12 member 3
MAELPTTETPGDATLCSGRFTISTLLSSDEPSPPAAYDSSHPSHLTHSSTFCMRTFGYNT
IDVVPTYEHYANSTQPGEPRKVRPTLADLHSFLKQEGRHLHALAFDSRPSHEMTDGLVEG
EAGTSSEKNPEEPVRFGWVKGVMIRCMLNIWGVILYLRLPWITAQAGIVLTWIIILLSVT
VTSITGLSISAISTNGKVKSGGTYFLISRSLGPELGGSIGLIFAFANAVGVAMHTVGFAE
TVRDLLQEYGAPIVDPINDIRIIGVVSVTVLLAISLAGMEWESKAQVLFFLVIMVSFANY
LVGTLIPPSEDKASKGFFSYRADIFVQNLVPDWRGPDGTFFGMFSIFFPSATGILAGANI
SGDLKDPAIAIPKGTLMAIFWTTISYLAISATIGSCVVRDASGVLNDTVTPGWGACEGLA
CSYGWNFTECTQQHSCHYGLINYYQTMSMVSGFAPLITAGIFGATLSSALACLVSAAKVF
QCLCEDQLYPLIGFFGKGYGKNKEPVRGYLLAYAIAVAFIIIAELNTIAPIISNFFLCSY
ALINFSCFHASITNSPGWRPSFQYYNKWAALFGAIISVVIMFLLTWWAALIAIGVVLFLL
LYVIYKKPEVNWGSSVQAGSYNLALSYSVGLNEVEDHIKNYRPQCLVLTGPPNFRPALVD
FVGTFTRNLSLMICGHVLIGPHKQRMPELQLIANGHTKWLNKRKIKAFYSDVIAEDLRRG
VQILMQAAGLGRMKPNILVVGFKKNWQSAHPATVEDYIGILHDAFDFNYGVCVMRMREGL
NVSKMMQAHINPVFDPAEDGKEASARVDPKALVKEEQATTIFQSEQGKKTIDIYWLFDDG
GLTLLIPYLLGRKRRWSKCKIRVFVGGQINRMDQERKAIISLLSKFRLGFHEVHILPDIN
QNPRAEHTKRFEDMIAPFRLNDGFKDEATVNEMRRDCPWKISDEEITKNRVKSLRQVRLN
EIVLDYSRDAALIVITLPIGRKGKCPSSLYMAWLETLSQDLRPPVILIRGNQENVLTFYC
Q
|
| Enzyme 80 Number of Residues |
1021 |
| Enzyme 80 Molecular Weight |
113124.0 |
| Enzyme 80 Theoretical pI |
7.94 |
| Enzyme 80 GO Classification |
| Function |
- anion transmembrane transporter activity
- anion:cation symporter activity
- cation:chloride symporter activity
- ion transmembrane transporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- anion transport
- cation transport
- chloride transport
- establishment of localization
- inorganic anion transport
- ion transport
- monovalent inorganic cation transport
- sodium ion transport
- transmembrane transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 80 General Function |
Involved in transport |
| Enzyme 80 Specific Function |
Electrically silent transporter system. Mediates sodium and chloride reabsorption |
| Enzyme 80 Pathways |
Not Available |
| Enzyme 80 Reactions |
Not Available |
| Enzyme 80 Pfam Domain Function |
|
| Enzyme 80 Signals |
|
| Enzyme 80 Transmembrane Regions |
- 136-156
159-179
219-239
262-282
287-307
340-360
378-398
453-473
512-532
535-555
578-598
661-681
|
| Enzyme 80 Essentiality |
Not Available |
| Enzyme 80 GenBank ID Protein |
186910319  |
| Enzyme 80 UniProtKB/Swiss-Prot ID |
P55017  |
| Enzyme 80 UniProtKB/Swiss-Prot Entry Name |
S12A3_HUMAN  |
| Enzyme 80 PDB ID |
Not Available |
| Enzyme 80 Cellular Location |
Not Available |
| Enzyme 80 Gene Sequence |
>3066 bp
ATGGCAGAACTGCCCACAACAGAGACGCCTGGGGACGCCACTTTGTGCAGCGGGCGCTTC
ACCATCAGCACACTGCTGAGCAGTGATGAGCCCTCTCCACCAGCTGCCTATGACAGCAGC
CACCCCAGCCACCTGACCCACAGCAGCACCTTCTGCATGCGCACCTTTGGCTACAACACG
ATCGATGTGGTGCCCACATATGAGCACTATGCCAACAGCACCCAGCCTGGTGAGCCCCGG
AAGGTCCGGCCCACACTGGCTGACCTGCACTCCTTCCTCAAGCAGGAAGGCAGACACCTG
CATGCCCTGGCCTTTGACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGC
GAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAG
GGGGTGATGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCC
TGGATTACGGCCCAGGCAGGCATCGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACG
GTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCA
GGTGGCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGC
CTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAG
ACCGTGCGGGACCTGCTCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATC
CGCATCATTGGCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAG
TGGGAGTCCAAGGCCCAGGTGCTGTTCTTCCTTGTCATCATGGTCTCCTTTGCCAACTAT
TTAGTGGGGACGCTGATCCCCCCATCTGAGGACAAGGCCTCCAAAGGCTTCTTCAGCTAC
CGGGCGGACATTTTTGTCCAGAACTTGGTGCCTGACTGGCGGGGTCCAGATGGCACCTTC
TTCGGAATGTTCTCCATCTTCTTCCCCTCGGCCACAGGCATCCTGGCAGGGGCCAACATA
TCTGGTGACCTCAAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTC
TGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGCTCCTGCGTGGTGCGTGAT
GCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCC
TGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTC
ATCAACTATTACCAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGC
ATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTC
CAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGC
AAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATC
ATCATCGCTGAGCTCAACACCATAGCCCCCATCATTTCCAACTTCTTCCTCTGCTCCTAT
GCCCTCATCAACTTCAGCTGCTTCCACGCCTCCATCACCAACTCGCCTGGGTGGAGACCT
TCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATC
ATGTTCCTCCTCACCTGGTGGGCGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTG
CTCTATGTCATCTACAAGAAGCCAGAGGTAAATTGGGGCTCCTCGGTACAGGCTGGCTCC
TACAACCTGGCCCTCAGCTACTCGGTGGGCCTCAATGAGGTGGAAGACCACATCAAGAAC
TACCGCCCCCAGTGCCTGGTGCTCACGGGGCCCCCCAACTTCCGCCCGGCCCTGGTGGAC
TTTGTGGGCACCTTCACCCGGAACCTCAGCCTGATGATCTGTGGCCACGTGCTCATCGGA
CCCCACAAGCAGAGGATGCCTGAGCTCCAGCTCATCGCCAACGGGCACACCAAGTGGCTG
AACAAGAGGAAGATCAAGGCCTTCTACTCGGATGTCATTGCCGAGGACCTCCGCAGAGGC
GTCCAGATCCTCATGCAGGCCGCAGGTCTCGGGAGAATGAAGCCCAACATTCTGGTGGTT
GGGTTCAAGAAGAACTGGCAGTCGGCTCACCCGGCCACAGTGGAAGACTACATTGGCATC
CTCCATGATGCCTTTGATTTCAACTATGGCGTGTGTGTCATGAGGATGCGGGAGGGACTC
AACGTGTCCAAGATGATGCAGGCGCACATTAACCCCGTGTTTGACCCAGCGGAGGACGGG
AAGGAAGCCAGCGCCAGAGTGGACCCCAAGGCCCTGGTGAAGGAGGAGCAGGCCACCACC
ATCTTCCAGTCGGAGCAGGGCAAGAAGACCATAGACATCTACTGGCTCTTTGACGATGGA
GGCCTCACCCTCCTCATTCCCTATCTCCTTGGCCGCAAGAGGAGGTGGAGCAAATGCAAG
ATCCGTGTGTTCGTAGGCGGCCAGATTAACAGGATGGACCAGGAGAGAAAGGCGATCATT
TCTCTGCTGAGCAAGTTCCGACTGGGATTCCATGAAGTCCACATCCTCCCTGACATCAAC
CAGAACCCTCGGGCTGAGCACACCAAGAGGTTTGAGGACATGATTGCACCCTTCCGTCTG
AATGATGGCTTCAAGGATGAGGCCACTGTCAACGAGATGCGGCGGGACTGCCCCTGGAAG
ATCTCAGATGAGGAGATTACGAAGAACAGAGTCAAGTCCCTTCGGCAGGTGAGGCTGAAT
GAGATTGTGCTGGATTACTCCCGAGACGCTGCTCTCATCGTCATCACTTTGCCCATAGGG
AGGAAGGGGAAGTGCCCCAGCTCGCTGTACATGGCCTGGCTGGAGACCCTGTCCCAGGAC
CTCAGACCTCCAGTCATCCTGATCCGAGGAAACCAGGAAAACGTGCTCACCTTTTACTGC
CAGTAA
|
| Enzyme 80 GenBank Gene ID |
NM_001126108.1  |
| Enzyme 80 GeneCard ID |
SLC12A3  |
| Enzyme 80 GenAtlas ID |
SLC12A3  |
| Enzyme 80 HGNC ID |
HGNC:10912  |
| Enzyme 80 Chromosome Location |
1 |
| Enzyme 80 Locus |
16q13 |
| Enzyme 80 SNPs |
SNPJam Report  |
| Enzyme 80 General References |
- Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet FE, Molina AM, Vaara I, Iwata F, Cushner HM, Koolen M, Gainza FJ, Gitleman HJ, Lifton RP: Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet. 1996 Jan;12(1):24-30. [PubMed
]
- Mastroianni N, De Fusco M, Zollo M, Arrigo G, Zuffardi O, Bettinelli A, Ballabio A, Casari G: Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3). Genomics. 1996 Aug 1;35(3):486-93. [PubMed
]
- Martin J, Han C, Gordon LA, Terry A, Prabhakar S, She X, Xie G, Hellsten U, Chan YM, Altherr M, Couronne O, Aerts A, Bajorek E, Black S, Blumer H, Branscomb E, Brown NC, Bruno WJ, Buckingham JM, Callen DF, Campbell CS, Campbell ML, Campbell EW, Caoile C, Challacombe JF, Chasteen LA, Chertkov O, Chi HC, Christensen M, Clark LM, Cohn JD, Denys M, Detter JC, Dickson M, Dimitrijevic-Bussod M, Escobar J, Fawcett JJ, Flowers D, Fotopulos D, Glavina T, Gomez M, Gonzales E, Goodstein D, Goodwin LA, Grady DL, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Hildebrand CE, Huang W, Israni S, Jett J, Jewett PB, Kadner K, Kimball H, Kobayashi A, Krawczyk MC, Leyba T, Longmire JL, Lopez F, Lou Y, Lowry S, Ludeman T, Manohar CF, Mark GA, McMurray KL, Meincke LJ, Morgan J, Moyzis RK, Mundt MO, Munk AC, Nandkeshwar RD, Pitluck S, Pollard M, Predki P, Parson-Quintana B, Ramirez L, Rash S, Retterer J, Ricke DO, Robinson DL, Rodriguez A, Salamov A, Saunders EH, Scott D, Shough T, Stallings RL, Stalvey M, Sutherland RD, Tapia R, Tesmer JG, Thayer N, Thompson LS, Tice H, Torney DC, Tran-Gyamfi M, Tsai M, Ulanovsky LE, Ustaszewska A, Vo N, White PS, Williams AL, Wills PL, Wu JR, Wu K, Yang J, Dejong P, Bruce D, Doggett NA, Deaven L, Schmutz J, Grimwood J, Richardson P, Rokhsar DS, Eichler EE, Gilna P, Lucas SM, Myers RM, Rubin EM, Pennacchio LA: The sequence and analysis of duplication-rich human chromosome 16. Nature. 2004 Dec 23;432(7020):988-94. [PubMed
]
- Mastroianni N, Bettinelli A, Bianchetti M, Colussi G, De Fusco M, Sereni F, Ballabio A, Casari G: Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. Am J Hum Genet. 1996 Nov;59(5):1019-26. [PubMed
]
- Takeuchi K, Kure S, Kato T, Taniyama Y, Takahashi N, Ikeda Y, Abe T, Narisawa K, Muramatsu Y, Abe K: Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman's syndrome. J Clin Endocrinol Metab. 1996 Dec;81(12):4496-9. [PubMed
]
- Lemmink HH, Knoers NV, Karolyi L, van Dijk H, Niaudet P, Antignac C, Guay-Woodford LM, Goodyer PR, Carel JC, Hermes A, Seyberth HW, Monnens LA, van den Heuvel LP: Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain. Kidney Int. 1998 Sep;54(3):720-30. [PubMed
]
- Melander O, Orho-Melander M, Bengtsson K, Lindblad U, Rastam L, Groop L, Hulthen UL: Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension. Hypertension. 2000 Sep;36(3):389-94. [PubMed
]
- Monkawa T, Kurihara I, Kobayashi K, Hayashi M, Saruta T: Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome. J Am Soc Nephrol. 2000 Jan;11(1):65-70. [PubMed
]
- Cruz DN, Shaer AJ, Bia MJ, Lifton RP, Simon DB: Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life. Kidney Int. 2001 Feb;59(2):710-7. [PubMed
]
- Pantanetti P, Arnaldi G, Balercia G, Mantero F, Giacchetti G: Severe hypomagnesaemia-induced hypocalcaemia in a patient with Gitelman's syndrome. Clin Endocrinol (Oxf). 2002 Mar;56(3):413-8. [PubMed
]
- Tajima T, Kobayashi Y, Abe S, Takahashi M, Konno M, Nakae J, Okuhara K, Satoh K, Ishikawa T, Imai T, Fujieda K: Two novel mutations of thiazide-sensitive Na-Cl cotrans porter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome. Endocr J. 2002 Feb;49(1):91-6. [PubMed
]
- Syren ML, Tedeschi S, Cesareo L, Bellantuono R, Colussi G, Procaccio M, Ali A, Domenici R, Malberti F, Sprocati M, Sacco M, Miglietti N, Edefonti A, Sereni F, Casari G, Coviello DA, Bettinelli A: Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome. Hum Mutat. 2002 Jul;20(1):78. [PubMed
]
- Maki N, Komatsuda A, Wakui H, Ohtani H, Kigawa A, Aiba N, Hamai K, Motegi M, Yamaguchi A, Imai H, Sawada K: Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome. Nephrol Dial Transplant. 2004 Jul;19(7):1761-6. Epub 2004 Apr 6. [PubMed
]
- Lin SH, Shiang JC, Huang CC, Yang SS, Hsu YJ, Cheng CJ: Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome. J Clin Endocrinol Metab. 2005 May;90(5):2500-7. Epub 2005 Feb 1. [PubMed
]
- Terui K, Shoji M, Yamashiki J, Hirai Y, Ishiguro A, Tsutaya S, Kageyama K, Yasujima M, Suda T: A novel mutation of the thiazide-sensitive sodium chloride cotransporter gene in a Japanese family with Gitelman syndrome. Clin Nephrol. 2006 Jan;65(1):57-60. [PubMed
]
- Fava C, Montagnana M, Rosberg L, Burri P, Jonsson A, Wanby P, Wahrenberg H, Hulthen UL, Aurell M, Guidi GC, Melander O: Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes. DNA Seq. 2007 Oct;18(5):395-9. [PubMed
]
- Aoi N, Nakayama T, Tahira Y, Haketa A, Yabuki M, Sekiyama T, Nakane C, Mano H, Kawachi H, Sato N, Soma M, Matsumoto K: Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman's syndrome. Endocrine. 2007 Apr;31(2):149-53. [PubMed
]
- Keszei AP, Tisler A, Backx PH, Andrulis IL, Bull SB, Logan AG: Molecular variants of the thiazide-sensitive Na+-Cl- cotransporter in hypertensive families. J Hypertens. 2007 Oct;25(10):2074-81. [PubMed
]
|
| Enzyme 80 Metabolite References |
Not Available |
|
Enzyme 81
[top]
|
| Enzyme 81 ID |
8650 |
| Enzyme 81 Name |
Neutral amino acid transporter A |
| Enzyme 81 Synonyms |
- Alanine/serine/cysteine/threonine transporter 1
- ASCT-1
- SATT
- Solute carrier family 1 member 4
|
| Enzyme 81 Gene Name |
SLC1A4 |
| Enzyme 81 Protein Sequence |
>Neutral amino acid transporter A
MEKSNETNGYLDSAQAGPAAGPGAPGTAAGRARRCAGFLRRQALVLLTVSGVLAGAGLGA
ALRGLSLSRTQVTYLAFPGEMLLRMLRMIILPLVVCSLVSGAASLDASCLGRLGGIAVAY
FGLTTLSASALAVALAFIIKPGSGAQTLQSSDLGLEDSGPPPVPKETVDSFLDLARNLFP
SNLVVAAFRTYATDYKVVTQNSSSGNVTHEKIPIGTEIEGMNILGLVLFALVLGVALKKL
GSEGEDLIRFFNSLNEATMVLVSWIMWYVPVGIMFLVGSKIVEMKDIIVLVTSLGKYIFA
SILGHVIHGGIVLPLIYFVFTRKNPFRFLLGLLAPFATAFATCSSSATLPSMMKCIEENN
GVDKRISRFILPIGATVNMDGAAIFQCVAAVFIAQLNNVELNAGQIFTILVTATASSVGA
AGVPAGGVLTIAIILEAIGLPTHDLPLILAVDWIVDRTTTVVNVEGDALGAGILHHLNQK
ATKKGEQELAEVKVEAIPNCKSEEETSPLVTHQNPAGPVASAPELESKESVL
|
| Enzyme 81 Number of Residues |
532 |
| Enzyme 81 Molecular Weight |
55722.5 |
| Enzyme 81 Theoretical pI |
6.18 |
| Enzyme 81 GO Classification |
| Function |
- carboxylic acid transmembrane transporter activity
- dicarboxylic acid transmembrane transporter activity
- organic acid transmembrane transporter activity
- sodium:dicarboxylate symporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- carboxylic acid transport
- dicarboxylic acid transport
- establishment of localization
- organic acid transport
- transport
|
| Component |
|
|
| Enzyme 81 General Function |
Involved in sodium:dicarboxylate symporter activity |
| Enzyme 81 Specific Function |
Transporter for alanine, serine, cysteine, and threonine. Exhibits sodium dependence |
| Enzyme 81 Pathways |
Not Available |
| Enzyme 81 Reactions |
Not Available |
| Enzyme 81 Pfam Domain Function |
|
| Enzyme 81 Signals |
|
| Enzyme 81 Transmembrane Regions |
- 42-62
88-108
119-139
217-237
257-277
298-318
328-348
373-393
418-438
|
| Enzyme 81 Essentiality |
Not Available |
| Enzyme 81 GenBank ID Protein |
62822396  |
| Enzyme 81 UniProtKB/Swiss-Prot ID |
P43007  |
| Enzyme 81 UniProtKB/Swiss-Prot Entry Name |
SATT_HUMAN  |
| Enzyme 81 PDB ID |
Not Available |
| Enzyme 81 Cellular Location |
Not Available |
| Enzyme 81 Gene Sequence |
>1596 bp
ATGGCCCTGGGTGAAGAAAAGGCAGAAGCGGAAGCATCTGAAGACACAAAGGCCCAGTCC
TATGGGAGAGGGAGCTGCAGGGAGCGGGAGCTGGACATCCCAGGGCCCATGAGTGGGGAG
CAGCCCCCACGCCTGGAAGCTGAGGGAGGGCTCATCTCCCCTGTATGGGGGGCAGAAGGG
ATACCTGCCCCTACTTGCTGGATTGGGACTGACCCTGGCGGCCCCTCTAGAGCCCACCAG
CCACAGGCCAGTGATGCCAACAGAGAGCCCGTAGCTGAGAGGTCTGAGCCTGCACTCAGT
GGCCTGCCTCCTGCCACCATGGGGTCTGGAGACCTTCTGCTCTCCGGGGAAAGCCAGGTG
GAGAAGACCAAGCTTTCTTCCTCCGAGGAGTTCCCTCAGACTCTGAGCCTTCCCAGAACA
ACAACTATTTGCTCAGGACATGATGCTGATACCGAAGATGATCCATCCCTAGCAGATTTG
CCCCAGGCACTGGACCTCAGCCAGCAGCCTCACAGCTCAGGTCTCTCTTGCCTGTCACAG
TGGAAGTCCGTGCTGAGCCCAGGTTCCGCAGCTCAGCCTTCCAGCTGCAGCATCTCTGCT
TCCTCCACAGGCAGCAGTCTCCAGGGTCACCAGGAGAGGGCGGAGCCTCGTGGTGGTTCT
CTGGCCAAGGTCTCCTCCTCCCTGGAGCCGGTCGTCCCCCAGGAACCTTCCTCTGTGGTG
GGGCTAGGACCTCGGCCCCAGTGGTCACCACAGCCTGTGTTCTCTGGGGGTGATGCTTCT
GGGCTAGGCAGGAGACGCCTCTCCTTCCAGGCTGAGTACTGGGCCTGTGTGCTGCCAGAT
TCCCTGCCTCCATCACCCGACCGCCACTCCCCTCTCTGGAACCCAAATAAAGAGTATGAA
GATCTGCTTGACTATACTTACCCACTGAGGCCCGGGCCTCAGCTCCCAAAGCACCTTGAT
AGCCGTGTGCCAGCTGACCCTGTCCTGCAGGACTCCGGGGTAGACCTGGATAGCTTCTCT
GTCTCTCCAGCAAGCACCCTCAAATCACCTACTAATGTCTCCCCCAACTGCCCACCAGCA
GAGGCCACTGCCCTGCCATTTTCTGGGCCCAGAGAGCCAAGCCTTAAGCAGTGGCCCTCC
AGAGTACCCCAGAAACAGGGTGGCATGGGCTTGGCATCTTGGAGCCAACTTGCATCTACC
CCCAGAGCCCCAGGCAGTAGGGATGCTCGTTGGGAGCGCAGAGAGCCAGCCCTGAGGGGT
GCGAAGGACCGGCTGACTATAGGCAAGCACCTTGATATGGGCTCTCCCCAGCTAAGGACA
CGGGACAGAGGGTGGCCCTCGCCCAGGCCAGAGAGGGAGAAGAGGACCAGCCAGAGTGCC
CGGCGCCCTACCTGCACAGAGTCTAGGTGGAAATCAGAAGAGGAAGTGGAAAGTGATGAC
GAGTATCTTGCCCTCCCCGCTCGGCTGACACAGACATTTTGCTGTCAGCTGGAAGAGCTG
ATCTGCTGGCTGTATAATGTTGCAGATGTTACTGACCACGGGACTGCAGCCAGGTCCAAT
CTTACAAGTCTCAAGTCTTCTCTGCAGCTTTACCGG
|
| Enzyme 81 GenBank Gene ID |
AC007386  |
| Enzyme 81 GeneCard ID |
SLC1A4  |
| Enzyme 81 GenAtlas ID |
SLC1A4  |
| Enzyme 81 HGNC ID |
HGNC:10942  |
| Enzyme 81 Chromosome Location |
2 |
| Enzyme 81 Locus |
2p15-p13 |
| Enzyme 81 SNPs |
SNPJam Report  |
| Enzyme 81 General References |
- Arriza JL, Kavanaugh MP, Fairman WA, Wu YN, Murdoch GH, North RA, Amara SG: Cloning and expression of a human neutral amino acid transporter with structural similarity to the glutamate transporter gene family. J Biol Chem. 1993 Jul 25;268(21):15329-32. [PubMed
]
- Shafqat S, Tamarappoo BK, Kilberg MS, Puranam RS, McNamara JO, Guadano-Ferraz A, Fremeau RT Jr: Cloning and expression of a novel Na(+)-dependent neutral amino acid transporter structurally related to mammalian Na+/glutamate cotransporters. J Biol Chem. 1993 Jul 25;268(21):15351-5. [PubMed
]
- Hofmann K, Duker M, Fink T, Lichter P, Stoffel W: Human neutral amino acid transporter ASCT1: structure of the gene (SLC1A4) and localization to chromosome 2p13-p15. Genomics. 1994 Nov 1;24(1):20-6. [PubMed
]
- Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK: Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434(7034):724-31. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Chi A, Valencia JC, Hu ZZ, Watabe H, Yamaguchi H, Mangini NJ, Huang H, Canfield VA, Cheng KC, Yang F, Abe R, Yamagishi S, Shabanowitz J, Hearing VJ, Wu C, Appella E, Hunt DF: Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. J Proteome Res. 2006 Nov;5(11):3135-44. [PubMed
]
- Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. Epub 2008 Jul 31. [PubMed
]
- Wollscheid B, Bausch-Fluck D, Henderson C, O'Brien R, Bibel M, Schiess R, Aebersold R, Watts JD: Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins. Nat Biotechnol. 2009 Apr;27(4):378-86. Epub 2009 Apr 6. [PubMed
]
|
| Enzyme 81 Metabolite References |
Not Available |
|
Enzyme 82
[top]
|
| Enzyme 82 ID |
8656 |
| Enzyme 82 Name |
Cationic amino acid transporter 3 |
| Enzyme 82 Synonyms |
- CAT-3
- CAT3
- Cationic amino acid transporter y+
- Solute carrier family 7 member 3
|
| Enzyme 82 Gene Name |
SLC7A3 |
| Enzyme 82 Protein Sequence |
>Cationic amino acid transporter 3
MPWQAFRRFGQKLVRRRTLESGMAETRLARCLSTLDLVALGVGSTLGAGVYVLAGEVAKD
KAGPSIVICFLVAALSSVLAGLCYAEFGARVPRSGSAYLYSYVTVGELWAFTTGWNLILS
YVIGTASVARAWSSAFDNLIGNHISKTLQGSIALHVPHVLAEYPDFFALGLVLLLTGLLA
LGASESALVTKVFTGVNLLVLGFVMISGFVKGDVHNWKLTEEDYELAMAELNDTYSLGPL
GSGGFVPFGFEGILRGAATCFYAFVGFDCIATTGEEAQNPQRSIPMGIVISLSVCFLAYF
AVSSALTLMMPYYQLQPESPLPEAFLYIGWAPARYVVAVGSLCALSTSLLGSMFPMPRVI
YAMAEDGLLFRVLARIHTGTRTPIIATVVSGIIAAFMAFLFKLTDLVDLMSIGTLLAYSL
VSICVLILRYQPDQETKTGEEVELQEEAITTESEKLTLWGLFFPLNSIPTPLSGQIVYVC
SSLLAVLLTALCLVLAQWSVPLLSGDLLWTAVVVLLLLLIIGIIVVIWRQPQSSTPLHFK
VPALPLLPLMSIFVNIYLMMQMTAGTWARFGVWMLIGFAIYFGYGIQHSLEEIKSNQPSR
KSRAKTVDLDPGTLYVHSV
|
| Enzyme 82 Number of Residues |
619 |
| Enzyme 82 Molecular Weight |
67168.3 |
| Enzyme 82 Theoretical pI |
6.11 |
| Enzyme 82 GO Classification |
| Function |
- active transmembrane transporter activity
- amine transmembrane transporter activity
- amino acid transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- amine transport
- amino acid transport
- establishment of localization
- transmembrane transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 82 General Function |
Involved in transport |
| Enzyme 82 Specific Function |
Mediates the uptake of the cationic amino acids arginine, lysine and ornithine in a sodium-independent manner |
| Enzyme 82 Pathways |
Not Available |
| Enzyme 82 Reactions |
Not Available |
| Enzyme 82 Pfam Domain Function |
|
| Enzyme 82 Signals |
|
| Enzyme 82 Transmembrane Regions |
- 37-57
62-82
108-128
163-183
192-212
234-254
286-306
336-356
383-403
407-427
476-496
507-527
541-561
570-590
|
| Enzyme 82 Essentiality |
Not Available |
| Enzyme 82 GenBank ID Protein |
17224957  |
| Enzyme 82 UniProtKB/Swiss-Prot ID |
Q8WY07  |
| Enzyme 82 UniProtKB/Swiss-Prot Entry Name |
CTR3_HUMAN  |
| Enzyme 82 PDB ID |
Not Available |
| Enzyme 82 Cellular Location |
Not Available |
| Enzyme 82 Gene Sequence |
>1860 bp
ATGCCGTGGCAAGCATTTCGCAGATTTGGTCAAAAGCTGGTACGCAGACGTACACTGGAG
TCAGGCATGGCTGAGACTCGCCTTGCCAGATGCCTAAGCACCCTGGATTTAGTGGCCCTG
GGTGTGGGCAGCACATTGGGTGCAGGCGTGTATGTCCTAGCTGGCGAGGTGGCCAAAGAT
AAAGCAGGGCCATCCATTGTGATCTGCTTTTTGGTGGCTGCCCTGTCTTCTGTGTTGGCT
GGGCTGTGCTATGCGGAGTTTGGTGCCCGGGTTCCCCGTTCTGGTTCGGCATATCTCTAC
AGCTATGTCACTGTGGGTGAACTCTGGGCCTTCACCACTGGCTGGAACCTCATCCTCTCC
TATGTCATTGGTACAGCCAGTGTGGCCCGGGCCTGGAGCTCTGCTTTTGACAACCTGATT
GGGAACCACATCTCTAAGACTCTGCAGGGGTCCATTGCACTGCACGTGCCCCATGTCCTT
GCAGAATATCCAGATTTCTTTGCTTTGGGCCTCGTGTTGCTGCTCACTGGATTGTTGGCT
CTCGGGGCTAGTGAGTCGGCCCTGGTTACCAAAGTGTTCACAGGCGTGAACCTTTTGGTT
CTTGGGTTCGTCATGATCTCTGGCTTCGTTAAGGGGGACGTGCACAACTGGAAGCTCACA
GAAGAGGACTACGAATTGGCCATGGCTGAACTCAATGACACCTATAGCTTGGGTCCTCTG
GGCTCTGGAGGATTTGTGCCTTTCGGCTTCGAGGGAATTCTCCGTGGAGCAGCGACCTGT
TTCTATGCATTTGTTGGTTTCGACTGTATTGCTACCACTGGAGAAGAAGCCCAGAATCCC
CAGCGTTCCATCCCGATGGGCATTGTGATCTCACTGTCTGTCTGCTTTTTGGCGTATTTT
GCTGTCTCTTCTGCACTCACCCTGATGATGCCTTACTACCAGCTTCAGCCTGAGAGCCCT
TTGCCTGAGGCATTTCTCTACATTGGATGGGCTCCTGCCCGCTATGTTGTGGCTGTTGGC
TCCCTCTGTGCTCTTTCTACCAGCCTCCTGGGCTCCATGTTCCCCATGCCTCGGGTGATC
TACGCGATGGCAGAGGATGGCCTCCTGTTCCGTGTACTTGCTCGGATCCACACCGGCACA
CGCACCCCAATCATAGCCACCGTGGTCTCTGGCATTATTGCAGCATTCATGGCATTCCTC
TTCAAACTCACTGATCTTGTGGACCTCATGTCAATTGGGACCCTGCTTGCTTACTCCCTG
GTGTCGATTTGTGTTCTCATCCTCAGGTATCAACCTGATCAGGAGACAAAGACTGGGGAA
GAAGTGGAGTTGCAGGAGGAGGCAATAACTACTGAATCAGAGAAGTTGACCCTATGGGGA
CTATTTTTCCCACTCAACTCCATCCCCACTCCACTCTCTGGCCAAATTGTCTATGTTTGT
TCCTCATTGCTTGCTGTCCTGCTGACTGCTCTTTGCCTGGTGCTGGCCCAGTGGTCAGTT
CCATTGCTTTCTGGAGACCTGCTGTGGACTGCAGTGGTTGTGCTGCTCCTGCTGCTCATT
ATTGGGATCATTGTGGTCATCTGGAGACAGCCACAGAGTTCCACTCCCCTTCACTTTAAG
GTGCCTGCTTTGCCTCTCCTCCCACTAATGAGCATCTTTGTGAATATTTACCTTATGATG
CAGATGACAGCTGGTACCTGGGCCCGATTTGGGGTCTGGATGCTGATTGGCTTTGCTATC
TACTTCGGCTATGGGATCCAGCACAGCCTGGAAGAGATTAAGAGTAACCAACCCTCACGC
AAGTCTAGAGCCAAAACTGTAGACCTTGATCCCGGCACTCTCTATGTCCACTCAGTTTGA
|
| Enzyme 82 GenBank Gene ID |
AF320612  |
| Enzyme 82 GeneCard ID |
SLC7A3  |
| Enzyme 82 GenAtlas ID |
SLC7A3  |
| Enzyme 82 HGNC ID |
HGNC:11061  |
| Enzyme 82 Chromosome Location |
Not Available |
| Enzyme 82 Locus |
Not Available |
| Enzyme 82 SNPs |
SNPJam Report  |
| Enzyme 82 General References |
- Vekony N, Wolf S, Boissel JP, Gnauert K, Closs EI: Human cationic amino acid transporter hCAT-3 is preferentially expressed in peripheral tissues. Biochemistry. 2001 Oct 16;40(41):12387-94. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T, Gibbs RA, Beck S, Rogers J, Bentley DR: The DNA sequence of the human X chromosome. Nature. 2005 Mar 17;434(7031):325-37. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
|
| Enzyme 82 Metabolite References |
Not Available |
|
Enzyme 83
[top]
|
| Enzyme 83 ID |
8667 |
| Enzyme 83 Name |
Solute carrier family 23 member 1 |
| Enzyme 83 Synonyms |
- Na(+)/L-ascorbic acid transporter 1
- Sodium-dependent vitamin C transporter 1
- hSVCT1
- Yolk sac permease-like molecule 3
|
| Enzyme 83 Gene Name |
SLC23A1 |
| Enzyme 83 Protein Sequence |
>Solute carrier family 23 member 1
MRAQEDLEGRTQHETTRDPSTPLPTEPKFDMLYKIEDVPPWYLCILLGFQHYLTCFSGTI
AVPFLLAEALCVGHDQHMVSQLIGTIFTCVGITTLIQTTVGIRLPLFQASAFAFLVPAKA
ILALERWKCPPEEEIYGNWSLPLNTSHIWHPRIREVQGAIMVSSVVEVVIGLLGLPGALL
NYIGPLTVTPTVSLIGLSVFQAAGDRAGSHWGISACSILLIILFSQYLRNLTFLLPVYRW
GKGLTLLRIQIFKMFPIMLAIMTVWLLCYVLTLTDVLPTDPKAYGFQARTDARGDIMAIA
PWIRIPYPCQWGLPTVTAAAVLGMFSATLAGIIESIGDYYACARLAGAPPPPVHAINRGI
FTEGICCIIAGLLGTGNGSTSSSPNIGVLGITKVGSRRVVQYGAAIMLVLGTIGKFTALF
SSLPDPILGGMFCTLFGMITAVGLSNLQFVDMNSSRNLFVLGFSMFFGLTLPNYLESNPG
AINTGILEVDQILIVLLTTEMFVGGCLAFILDNTVPGSPEERGLIQWKAGAHANSDMSSS
LKSYDFPIGMGIVKRITFLKYIPICPVFKGFSSSSKDQIAIPEDTPENTETASVCTKV
|
| Enzyme 83 Number of Residues |
598 |
| Enzyme 83 Molecular Weight |
64830.4 |
| Enzyme 83 Theoretical pI |
6.58 |
| Enzyme 83 GO Classification |
| Function |
|
| Process |
- establishment of localization
- transmembrane transport
- transport
|
| Component |
|
|
| Enzyme 83 General Function |
Involved in transporter activity |
| Enzyme 83 Specific Function |
Sodium/ascorbate cotransporter. Mediates electrogenic uptake of vitamin C, with a stoichiometry of 2 Na(+) for each ascorbate |
| Enzyme 83 Pathways |
Not Available |
| Enzyme 83 Reactions |
Not Available |
| Enzyme 83 Pfam Domain Function |
|
| Enzyme 83 Signals |
|
| Enzyme 83 Transmembrane Regions |
- 53-73
82-102
104-124
160-180
208-228
251-271
313-333
359-379
403-423
427-447
458-478
491-511
|
| Enzyme 83 Essentiality |
Not Available |
| Enzyme 83 GenBank ID Protein |
44680145  |
| Enzyme 83 UniProtKB/Swiss-Prot ID |
Q9UHI7  |
| Enzyme 83 UniProtKB/Swiss-Prot Entry Name |
S23A1_HUMAN  |
| Enzyme 83 PDB ID |
Not Available |
| Enzyme 83 Cellular Location |
Not Available |
| Enzyme 83 Gene Sequence |
>1797 bp
ATGAGGGCCCAGGAGGACCTCGAGGGCCGGACACAGCATGAAACCACCAGGGACCCCTCG
ACCCCGCTACCCACAGAGCCTAAGTTTGACATGTTGTACAAGATCGAGGACGTGCCACCT
TGGTACCTGTGCATCCTGCTGGGCTTCCAGCACTACCTGACATGCTTCAGTGGTACCATC
GCCGTGCCCTTCCTGCTGGCTGAGGCGCTGTGTGTGGGCCACGACCAGCACATGGTTAGT
CAGCTCATCGGCACCATCTTCACGTGCGTGGGCATCACCACTCTCATCCAGACCACCGTG
GGCATCCGGCTGCCGCTGTTCCAGGCCAGTGCCTTTGCATTTCTGGTTCCAGCCAAAGCC
ATACTGGCTCTGGAGAGATGGAAATGCCCCCCGGAAGAGGAGATCTACGGTAACTGGAGT
CTGCCCCTGAACACCTCTCATATTTGGCACCCACGGATACGGGAGGTCCAGGGTGCAATC
ATGGTGTCCAGCGTGGTGGAGGTGGTGATTGGCCTGCTGGGGCTGCCTGGGGCCCTGCTC
AACTACATTGGGCCTCTCACAGTCACCCCCACTGTCTCCCTCATTGGCCTTTCTGTCTTC
CAAGCTGCTGGCGACCGAGCTGGCTCCCACTGGGGCATCTCAGCTTGCTCCATTCTCCTG
ATCATCCTCTTCTCCCAGTACCTGCGCAACCTCACCTTCCTGCTGCCTGTCTACCGCTGG
GGCAAGGGCCTCACTCTCCTCCGCATCCAGATCTTCAAAATGTTTCCTATCATGCTGGCC
ATCATGACCGTGTGGCTGCTCTGCTATGTCCTGACCTTGACAGACGTGCTGCCCACAGAC
CCAAAAGCCTATGGCTTCCAGGCACGAACCGATGCCCGTGGTGACATCATGGCTATTGCA
CCCTGGATCCGCATCCCCTACCCCTGTCAGTGGGGCCTGCCCACGGTGACTGCGGCTGCT
GTCCTGGGAATGTTCAGCGCCACTCTGGCAGGCATCATTGAGTCCATCGGAGATTACTAC
GCCTGTGCCCGCCTGGCTGGTGCACCACCCCCTCCAGTACATGCTATCAACAGGGGCATC
TTCACCGAAGGCATTTGCTGCATCATCGCGGGGCTATTGGGCACGGGCAACGGGTCCACC
TCGTCCAGTCCCAACATTGGCGTCCTGGGAATTACCAAGGTGGGCAGCCGGCGCGTGGTG
CAGTATGGTGCGGCTATCATGCTGGTCCTGGGCACCATCGGCAAGTTCACGGCCCTCTTC
GCCTCGCTCCCTGACCCCATCCTGGGGGGCATGTTCTGCACTCTCTTTGGCATGATTACA
GCTGTGGGGCTGTCCAACCTGCAATTTGTGGACATGAACTCCTCTCGCAACCTCTTCGTG
CTGGGATTTTCCATGTTCTTCGGGCTCACGCTGCCCAATTACCTGGAGTCCAACCCTGGC
GCCATCAATACAGGCATTCTTGAAGTGGATCAGATTCTGATTGTGCTGCTGACCACGGAG
ATGTTTGTGGGCGGGTGCCTTGCTTTCATACTTGACAACACAGTGCCAGGGAGCCCAGAG
GAGCGTGGTCTGATACAGTGGAAAGCTGGGGCTCATGCCAACAGTGACATGTCTTCCAGC
CTCAAGAGCTACGATTTCCCCATTGGGATGGGCATAGTAAAAAGAATTACCTTTCTGAAA
TACATTCCTATCTGCCCAGTCTTCAAAGGATTTTCTTCAAGTTCAAAAGATCAGATTGCA
ATTCCAGAAGACACTCCAGAAAATACAGAAACTGCATCTGTGTGCACCAAGGTCTGA
|
| Enzyme 83 GenBank Gene ID |
NM_005847.4  |
| Enzyme 83 GeneCard ID |
SLC23A1  |
| Enzyme 83 GenAtlas ID |
SLC23A1  |
| Enzyme 83 HGNC ID |
HGNC:10974  |
| Enzyme 83 Chromosome Location |
5 |
| Enzyme 83 Locus |
5q31.2 |
| Enzyme 83 SNPs |
SNPJam Report  |
| Enzyme 83 General References |
- Faaland CA, Race JE, Ricken G, Warner FJ, Williams WJ, Holtzman EJ: Molecular characterization of two novel transporters from human and mouse kidney and from LLC-PK1 cells reveals a novel conserved family that is homologous to bacterial and Aspergillus nucleobase transporters. Biochim Biophys Acta. 1998 Nov 8;1442(2-3):353-60. [PubMed
]
- Wang H, Dutta B, Huang W, Devoe LD, Leibach FH, Ganapathy V, Prasad PD: Human Na(+)-dependent vitamin C transporter 1 (hSVCT1): primary structure, functional characteristics and evidence for a non-functional splice variant. Biochim Biophys Acta. 1999 Nov 9;1461(1):1-9. [PubMed
]
- Daruwala R, Song J, Koh WS, Rumsey SC, Levine M: Cloning and functional characterization of the human sodium-dependent vitamin C transporters hSVCT1 and hSVCT2. FEBS Lett. 1999 Nov 5;460(3):480-4. [PubMed
]
- Wang Y, Mackenzie B, Tsukaguchi H, Weremowicz S, Morton CC, Hediger MA: Human vitamin C (L-ascorbic acid) transporter SVCT1. Biochem Biophys Res Commun. 2000 Jan 19;267(2):488-94. [PubMed
]
- Erichsen HC, Eck P, Levine M, Chanock S: Characterization of the genomic structure of the human vitamin C transporter SVCT1 (SLC23A2). J Nutr. 2001 Oct;131(10):2623-7. [PubMed
]
- Liang WJ, Johnson D, Jarvis SM: Vitamin C transport systems of mammalian cells. Mol Membr Biol. 2001 Jan-Mar;18(1):87-95. [PubMed
]
- Schmutz J, Martin J, Terry A, Couronne O, Grimwood J, Lowry S, Gordon LA, Scott D, Xie G, Huang W, Hellsten U, Tran-Gyamfi M, She X, Prabhakar S, Aerts A, Altherr M, Bajorek E, Black S, Branscomb E, Caoile C, Challacombe JF, Chan YM, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Glavina T, Gomez M, Gonzales E, Goodstein D, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Lopez F, Lou Y, Martinez D, Medina C, Morgan J, Nandkeshwar R, Noonan JP, Pitluck S, Pollard M, Predki P, Priest J, Ramirez L, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wheeler J, Wu K, Yang J, Dickson M, Cheng JF, Eichler EE, Olsen A, Pennacchio LA, Rokhsar DS, Richardson P, Lucas SM, Myers RM, Rubin EM: The DNA sequence and comparative analysis of human chromosome 5. Nature. 2004 Sep 16;431(7006):268-74. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
|
| Enzyme 83 Metabolite References |
Not Available |
|
Enzyme 84
[top]
|
| Enzyme 84 ID |
8669 |
| Enzyme 84 Name |
Sodium- and chloride-dependent GABA transporter 2 |
| Enzyme 84 Synonyms |
- GAT-2
- Solute carrier family 6 member 13
|
| Enzyme 84 Gene Name |
SLC6A13 |
| Enzyme 84 Protein Sequence |
>Sodium- and chloride-dependent GABA transporter 2
MDSRVSGTTSNGETKPVYPVMEKKEEDGTLERGHWNNKMEFVLSVAGEIIGLGNVWRFPY
LCYKNGGGAFFIPYLVFLFTCGIPVFLLETALGQYTSQGGVTAWRKICPIFEGIGYASQM
IVILLNVYYIIVLAWALFYLFSSFTIDLPWGGCYHEWNTEHCMEFQKTNGSLNGTSENAT
SPVIEFWERRVLKISDGIQHLGALRWELALCLLLAWVICYFCIWKGVKSTGKVVYFTATF
PYLMLVVLLIRGVTLPGAAQGIQFYLYPNLTRLWDPQVWMDAGTQIFFSFAICLGCLTAL
GSYNKYHNNCYRDCIALCFLNSGTSFVAGFAIFSILGFMSQEQGVPISEVAESGPGLAFI
AYPRAVVMLPFSPLWACCFFFMVVLLGLDSQFVCVESLVTALVDMYPHVFRKKNRREVLI
LGVSVVSFLVGLIMLTEGGMYVFQLFDYYAASGMCLLFVAIFESLCVAWVYGAKRFYDNI
EDMIGYRPWPLIKYCWLFLTPAVCTATFLFSLIKYTPLTYNKKYTYPWWGDALGWLLALS
SMVCIPAWSLYRLGTLKGPFRERIRQLMCPAEDLPQRNPAGPSAPATPRTSLLRLTELES
HC
|
| Enzyme 84 Number of Residues |
602 |
| Enzyme 84 Molecular Weight |
68008.2 |
| Enzyme 84 Theoretical pI |
7.40 |
| Enzyme 84 GO Classification |
| Function |
- gamma-aminobutyric acid:sodium symporter activity
- neurotransmitter transporter activity
- neurotransmitter:sodium symporter activity
- organic acid transmembrane transporter activity
- organic acid:sodium symporter activity
- sodium:amino acid symporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- neurotransmitter transport
- transport
|
| Component |
- cell part
- integral to membrane
- integral to plasma membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 84 General Function |
Involved in neurotransmitter:sodium symporter activity |
| Enzyme 84 Specific Function |
Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals |
| Enzyme 84 Pathways |
Not Available |
| Enzyme 84 Reactions |
Not Available |
| Enzyme 84 Pfam Domain Function |
|
| Enzyme 84 Signals |
|
| Enzyme 84 Transmembrane Regions |
- 41-61
68-88
121-141
207-227
233-253
282-302
319-339
366-386
418-438
453-473
490-510
528-548
|
| Enzyme 84 Essentiality |
Not Available |
| Enzyme 84 GenBank ID Protein |
189069259  |
| Enzyme 84 UniProtKB/Swiss-Prot ID |
Q9NSD5  |
| Enzyme 84 UniProtKB/Swiss-Prot Entry Name |
S6A13_HUMAN  |
| Enzyme 84 PDB ID |
Not Available |
| Enzyme 84 Cellular Location |
Not Available |
| Enzyme 84 Gene Sequence |
>1809 bp
ATGGATAGCAGGGTCTCAGGCACAACCAGTAATGGAGAGACAAAACCAGTGTATCCAGTC
ATGGAAAAGAAGGAGGAAGATGGCACCCTGGAGCGGGGGCACTGGAACAACAAGATGGAG
TTTGTGCTGTCAGTGGCTGGGGAGATCATTGGCTTAGGCAACGTCTGGAGGTTTCCCTAT
CTCTGCTACAAAAATGGGGGAGGTGCCTTCTTCATCCCCTACCTCGTCTTCCTCTTTACC
TGTGGCATTCCTGTCTTCCTTCTGGAGACAGCACTAGGCCAGTACACTAGCCAGGGAGGC
GTCACAGCCTGGAGGAAGATCTGCCCCATCTTTGAGGGCATTGGCTATGCCTCCCAGATG
ATCGTCATCCTCCTCAACGTCTACTACATCATTGTGTTGGCCTGGGCCCTGTTCTACCTC
TTCAGCAGCTTCACCATCGACCTGCCCTGGGGCGGCTGCTACCATGAGTGGAACACAGAA
CACTGTATGGAGTTCCAGAAGACCAACGGCTCCCTGAATGGTACCTCTGAGAATGCCACC
TCTCCTGTCATCGAGTTCTGGGAGCGGCGGGTCTTGAAGATCTCTGATGGGATCCAGCAC
CTGGGGGCCCTGCGCTGGGAGCTGGCTCTGTGCCTCCTGCTGGCCTGGGTCATCTGCTAC
TTCTGCATCTGGAAGGGGGTGAAGTCCACAGGCAAGGTGGTGTACTTCACGGCCACATTT
CCTTACCTCATGCTGGTGGTCCTGTTAATTCGAGGGGTGACGTTGCCTGGGGCAGCCCAA
GGAATTCAGTTTTACCTGTACCCAAACCTCACGCGTCTGTGGGATCCCCAGGTGTGGATG
GATGCAGGCACCCAGATATTCTTCTCCTTCGCCATCTGTCTTGGGTGCCTGACAGCCCTG
GGCAGCTACAACAAGTACCACAACAACTGCTACAGGGACTGCATCGCCCTCTGCTTCCTC
AACAGCGGCACCAGCTTTGTGGCCGGCTTTGCCATCTTCTCCATCCTGGGCTTCATGTCT
CAGGAGCAGGGGGTGCCCATTTCTGAGGTGGCCGAGTCAGGCCCTGGCCTGGCTTTCATC
GCTTACCCGCGGGCTGTGGTGATGCTGCCCTTCTCTCCTCTCTGGGCCTGCTGTTTCTTC
TTCATGGTCGTTCTCCTGGGACTGGATAGCCAGTTTGTGTGTGTAGAAAGCCTGGTGACA
GCGCTGGTGGACATGTACCCTCACGTGTTCCGCAAGAAGAACCGGAGGGAAGTCCTCATC
CTTGGAGTATCTGTCGTCTCCTTCCTTGTGGGGCTGATCATGCTCACAGAGGGCGGAATG
TACGTGTTCCAGCTCTTTGACTACTATGCGGCCAGTGGCATGTGCCTCCTGTTCGTGGCC
ATCTTCGAGTCCCTCTGTGTGGCTTGGGTTTACGGAGCCAAGCGCTTCTACGACAACATC
GAAGACATGATTGGGTACAGGCCATGGCCTCTTATCAAATACTGTTGGCTCTTCCTCACA
CCAGCTGTGTGCACAGCCACCTTTCTCTTCTCCCTGATAAAGTACACTCCGCTGACCTAC
AACAAGAAGTACACGTACCCGTGGTGGGGCGATGCCCTGGGCTGGCTCCTGGCTCTGTCC
TCCATGGTCTGCATTCCTGCCTGGAGCCTCTACAGACTCGGAACCCTCAAGGGCCCCTTC
AGAGAGAGAATCCGTCAGCTCATGTGCCCAGCCGAGGACCTGCCCCAGCGGAACCCAGCA
GGACCCTCGGCTCCCGCCACCCCCAGGACCTCACTGCTCAGACTCACAGAGCTAGAGTCT
CACTGCTAG
|
| Enzyme 84 GenBank Gene ID |
AK313511  |
| Enzyme 84 GeneCard ID |
SLC6A13  |
| Enzyme 84 GenAtlas ID |
SLC6A13  |
| Enzyme 84 HGNC ID |
HGNC:11046  |
| Enzyme 84 Chromosome Location |
1 |
| Enzyme 84 Locus |
12p13.3 |
| Enzyme 84 SNPs |
SNPJam Report  |
| Enzyme 84 General References |
- Gong Y, Zhang M, Cui L, Minuk GY: Sequence and chromosomal assignment of a human novel cDNA: similarity to gamma-aminobutyric acid transporter. Can J Physiol Pharmacol. 2001 Dec;79(12):977-84. [PubMed
]
- Christiansen B, Meinild AK, Jensen AA, Brauner-Osborne H: Cloning and characterization of a functional human gamma-aminobutyric acid (GABA) transporter, human GAT-2. J Biol Chem. 2007 Jul 6;282(27):19331-41. Epub 2007 May 14. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
|
| Enzyme 84 Metabolite References |
Not Available |
|
Enzyme 85
[top]
|
| Enzyme 85 ID |
8671 |
| Enzyme 85 Name |
Sodium/potassium/calcium exchanger 1 |
| Enzyme 85 Synonyms |
- Na(+)/K(+)/Ca(2+)-exchange protein 1
- Retinal rod Na-Ca+K exchanger
|
| Enzyme 85 Gene Name |
SLC24A1 |
| Enzyme 85 Protein Sequence |
>Sodium/potassium/calcium exchanger 1
MGKLIRMGPQERWLLRTKRLHWSRLLFLLGMLIIGSTYQHLRRPRGLSSLWAAVSSHQPI
KLASRDLSSEEMMMMSSSPSKPSSEMGGKMLVPQASVGSDEATLSMTVENIPSMPKRTAK
MIPTTTKNNYSPTAAGTERRKEDTPTSSRTLTYYTSTSSRQIVKKYTPTPRGEMKSYSPT
QVREKVKYTPSPRGRRVGTYVPSTFMTMETSHAITPRTTVKDSDITATYKILETNSLKRI
MEETTPTTLKGMFDSTPTFLTHEVEANVLTSPRSVMEKNNLFPPRRVESNSSAHPWGLVG
KSNPKTPQGTVLLHTPATSEGQVTISTMTGSSPAETKAFTAAWSLRNPSPRTSVSAIKTA
PAIVWRLAKKPSTAPSTSTTPTVRAKLTMQVHHCVVVKPTPAMLTTPSPSLTTALLPEEL
SPSPSVLPPSLPDLHPKGEYPPDLFSVEERRQGWVVLHVFGMMYVFVALAIVCDEYFVPA
LGVITDKLQISEDVAGATFMAAGGSAPELFTSLIGVFISHSNVGIGTIVGSAVFNILFVI
GTCSLFSREILNLTWWPLFRDVSFYILDLIMLILFFLDSLIAWWESLLLLLAYAFYVFTM
KWNKHIEVWVKEQLSRRPVAKVMALEDLSKPGDGAIAVDELQDNKKLKLPSLLTRGSSST
SLHNSTIRSTIYQLMLHSLDPLREVRLAKEKEEESLNQGARAQPQAKAESKPEEEEPAKL
PAVTVTPAPVPDIKGDQKENPGGQEDVAEAESTGEMPGEEGETAGEGETEEKSGGETQPE
GEGETETQGKGEECEDENEAEGKGDNEGEDEGEIHAEDGEMKGNEGETESQELSAENHGE
AKNDEKGVEDGGGSDGGDSEEEEEEEEEQEEEEEEEEQEEEEEEEEEEEEKGNEEPLSLD
WPETRQKQAIYLFLLPIVFPLWLTVPDVRRQESRKFFVFTFLGSIMWIAMFSYLMVWWAH
QVGETIGISEEIMGLTILAAGTSIPDLITSVIVARKGLGDMAVSSSVGSNIFDITVGLPV
PWLLFSLINGLQPVPVSSNGLFCAIVLLFLMLLFVISSIASCKWRMNKILGFTMFLLYFV
FLIISVMLEDRIISCPVSV
|
| Enzyme 85 Number of Residues |
1099 |
| Enzyme 85 Molecular Weight |
121373.1 |
| Enzyme 85 Theoretical pI |
4.60 |
| Enzyme 85 GO Classification |
| Function |
- calcium, potassium:sodium antiporter activity
- calcium:cation antiporter activity
- cation transmembrane transporter activity
- cation:cation antiporter activity
- ion transmembrane transporter activity
- solute:cation antiporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- calcium ion transport
- cation transport
- di-, tri-valent inorganic cation transport
- divalent metal ion transport
- establishment of localization
- ion transport
- multicellular organismal process
- neurological system process
- sensory perception
- sensory perception of light stimulus
- system process
- transmembrane transport
- transport
- visual perception
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane part
|
|
| Enzyme 85 General Function |
Involved in calcium, potassium:sodium antiporter activity |
| Enzyme 85 Specific Function |
Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and darkness. Light causes a rapid lowering of cytosolic free calcium in the outer segment of both retinal rod and cone photoreceptors and the light-induced lowering of calcium is caused by extrusion via this protein which plays a key role in the process of light adaptation. Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+) |
| Enzyme 85 Pathways |
Not Available |
| Enzyme 85 Reactions |
Not Available |
| Enzyme 85 Pfam Domain Function |
|
| Enzyme 85 Signals |
|
| Enzyme 85 Transmembrane Regions |
- 453-473
498-518
523-543
564-584
586-606
908-928
936-956
972-992
1011-1031
1040-1060
1069-1089
|
| Enzyme 85 Essentiality |
Not Available |
| Enzyme 85 GenBank ID Protein |
4759128  |
| Enzyme 85 UniProtKB/Swiss-Prot ID |
O60721  |
| Enzyme 85 UniProtKB/Swiss-Prot Entry Name |
NCKX1_HUMAN  |
| Enzyme 85 PDB ID |
Not Available |
| Enzyme 85 Cellular Location |
Not Available |
| Enzyme 85 Gene Sequence |
>3300 bp
ATGGGGAAATTGATCAGGATGGGGCCGCAAGAGAGGTGGTTACTCCGGACAAAGCGGCTT
CATTGGAGTCGCCTCCTCTTCTTACTGGGAATGTTGATCATCGGTTCTACTTATCAGCAC
CTTAGGAGACCCCGGGGCCTTTCCTCATTGTGGGCAGCAGTCTCTTCTCATCAGCCTATA
AAACTGGCCAGTCGGGACCTCTCCAGTGAAGAGATGATGATGATGAGCAGCAGCCCTTCA
AAACCTAGCTCCGAAATGGGGGGTAAGATGCTGGTACCCCAAGCCTCAGTGGGCAGTGAT
GAAGCAACACTGAGCATGACAGTGGAGAATATCCCCAGTATGCCTAAAAGAACAGCCAAG
ATGATCCCAACAACAACCAAGAATAATTACAGCCCAACAGCAGCAGGTACAGAAAGAAGG
AAGGAAGACACCCCAACATCCAGTAGAACACTGACTTACTACACCTCAACTTCAAGCAGA
CAAATAGTAAAAAAGTATACCCCAACACCCAGGGGAGAAATGAAGAGCTACAGCCCAACT
CAAGTGAGGGAAAAGGTGAAGTATACTCCTTCCCCACGTGGTAGAAGAGTAGGCACTTAC
GTGCCGTCCACATTCATGACAATGGAAACAAGCCATGCGATCACCCCCAGGACAACAGTG
AAAGACAGTGACATTACAGCAACCTATAAAATACTCGAAACCAACTCTCTTAAGAGAATA
ATGGAGGAAACCACCCCAACCACTCTCAAGGGAATGTTTGATAGCACCCCAACTTTTCTG
ACACATGAGGTAGAAGCAAACGTCTTGACTTCTCCAAGGAGCGTCATGGAAAAAAACAAC
CTGTTTCCCCCCAGAAGAGTGGAAAGTAACAGCTCAGCCCATCCCTGGGGGTTAGTGGGA
AAGAGCAACCCGAAGACTCCCCAGGGAACAGTCCTGTTGCATACCCCAGCCACCTCTGAG
GGGCAGGTGACAATAAGCACCATGACAGGCAGCAGCCCAGCAGAAACCAAAGCCTTCACT
GCTGCCTGGAGTCTTAGGAATCCTTCACCCAGGACCAGTGTATCAGCCATCAAAACAGCC
CCAGCCATAGTCTGGAGGCTGGCAAAGAAACCTTCCACAGCACCCAGCACCTCAACAACC
CCTACGGTCAGGGCAAAGCTGACCATGCAGGTCCATCACTGTGTGGTTGTGAAGCCAACC
CCAGCCATGCTCACCACTCCCTCCCCAAGCCTCACAACAGCCCTGCTCCCAGAGGAGCTC
AGTCCTAGTCCCTCAGTGCTGCCTCCCAGCTTGCCAGACCTCCACCCCAAGGGAGAGTAC
CCCCCAGATCTGTTCAGTGTGGAGGAGCGGCGGCAGGGCTGGGTGGTCCTGCACGTTTTT
GGCATGATGTATGTGTTTGTGGCCTTGGCCATTGTTTGCGACGAGTACTTCGTTCCAGCC
CTGGGTGTCATCACAGACAAGCTGCAGATCTCCGAGGATGTGGCAGGCGCCACATTCATG
GCTGCTGGAGGCTCTGCTCCTGAGCTCTTCACCTCCCTCATCGGTGTCTTCATTTCCCAC
AGCAACGTGGGCATTGGTACCATTGTGGGCTCTGCTGTGTTCAACATTCTCTTTGTCATT
GGCACTTGTTCCCTCTTCTCCCGAGAGATCCTCAACCTCACCTGGTGGCCCTTATTCCGT
GATGTCTCCTTCTACATCCTTGACCTGATAATGCTCATCCTCTTCTTCCTGGACAGCCTC
ATTGCCTGGTGGGAGAGCCTGCTGCTGCTGCTGGCCTATGCCTTCTATGTGTTCACCATG
AAGTGGAACAAGCATATCGAGGTCTGGGTGAAGGAGCAGCTCAGCAGGAGGCCAGTGGCC
AAGGTCATGGCCTTAGAAGACCTCAGCAAGCCGGGCGATGGGGCCATTGCGGTGGATGAG
CTACAGGATAACAAGAAGCTGAAGCTCCCGTCCTTGCTGACCCGAGGGAGCAGCTCGACC
TCTCTGCACAACAGCACCATCCGCAGCACCATCTACCAGCTCATGCTCCACAGCCTGGAC
CCCCTGAGGGAAGTTCGCCTTGCCAAGGAGAAGGAGGAGGAGAGCTTGAATCAAGGGGCC
AGAGCCCAACCCCAGGCCAAAGCAGAAAGCAAACCAGAAGAGGAGGAGCCAGCCAAGCTC
CCTGCGGTCACGGTCACACCAGCCCCTGTTCCAGACATCAAGGGAGATCAGAAGGAGAAT
CCAGGCGGTCAGGAAGATGTGGCTGAGGCCGAGAGCACAGGTGAAATGCCAGGCGAAGAG
GGCGAAACTGCTGGTGAAGGTGAAACTGAAGAGAAAAGTGGAGGTGAAACTCAACCAGAA
GGTGAAGGTGAAACTGAAACACAAGGAAAAGGAGAAGAATGTGAAGATGAAAATGAAGCA
GAAGGAAAAGGAGACAATGAAGGTGAAGATGAGGGTGAAATCCACGCAGAAGATGGTGAA
ATGAAAGGTAATGAAGGTGAAACTGAAAGCCAGGAACTCAGTGCTGAAAATCACGGTGAA
GCCAAAAATGATGAGAAAGGTGTAGAAGATGGAGGGGGAAGTGATGGAGGGGATAGCGAA
GAGGAGGAAGAGGAGGAGGAAGAGCAGGAGGAAGAGGAGGAGGAGGAAGAGCAGGAGGAA
GAGGAGGAGGAGGAGGAGGAAGAGGAGGAGAAGGGAAATGAAGAGCCTCTGTCCCTGGAC
TGGCCTGAAACCAGGCAGAAGCAGGCCATTTACCTCTTCCTTCTGCCCATCGTGTTCCCA
CTGTGGCTGACAGTCCCCGACGTCCGAAGGCAGGAGTCTAGGAAGTTTTTTGTTTTCACC
TTCCTGGGATCTATCATGTGGATAGCCATGTTCTCATACCTCATGGTGTGGTGGGCTCAC
CAGGTTGGTGAAACAATAGGGATTTCTGAAGAGATCATGGGCCTGACAATCCTTGCAGCA
GGCACATCAATTCCTGACCTCATCACCAGTGTGATTGTCGCTCGAAAAGGCCTGGGAGAC
ATGGCTGTGTCAAGCTCTGTGGGCAGTAACATATTTGATATCACTGTGGGCTTGCCTGTT
CCTTGGTTGCTTTTCTCTCTTATCAATGGATTACAGCCAGTTCCAGTCAGCAGCAATGGC
TTGTTTTGTGCAATTGTTTTGCTTTTTCTCATGCTTCTGTTTGTGATCTCTTCAATTGCG
TCATGTAAATGGAGAATGAACAAGATCCTGGGCTTCACAATGTTCCTCCTTTACTTTGTA
TTCCTGATAATCAGTGTGATGTTAGAAGATCGAATCATATCCTGTCCTGTATCTGTCTGA
|
| Enzyme 85 GenBank Gene ID |
NM_004727.2  |
| Enzyme 85 GeneCard ID |
SLC24A1  |
| Enzyme 85 GenAtlas ID |
SLC24A1  |
| Enzyme 85 HGNC ID |
HGNC:10975  |
| Enzyme 85 Chromosome Location |
1 |
| Enzyme 85 Locus |
15q22 |
| Enzyme 85 SNPs |
SNPJam Report  |
| Enzyme 85 General References |
- Tucker JE, Winkfein RJ, Murthy SK, Friedman JS, Walter MA, Demetrick DJ, Schnetkamp PP: Chromosomal localization and genomic organization of the human retinal rod Na-Ca+K exchanger. Hum Genet. 1998 Oct;103(4):411-4. [PubMed
]
- Tucker JE, Winkfein RJ, Cooper CB, Schnetkamp PP: cDNA cloning of the human retinal rod Na-Ca + K exchanger: comparison with a revised bovine sequence. Invest Ophthalmol Vis Sci. 1998 Feb;39(2):435-40. [PubMed
]
- Ishikawa K, Nagase T, Suyama M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O: Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. DNA Res. 1998 Jun 30;5(3):169-76. [PubMed
]
- McKiernan CJ, Friedlander M: The retinal rod Na(+)/Ca(2+),K(+) exchanger contains a noncleaved signal sequence required for translocation of the N terminus. J Biol Chem. 1999 Dec 31;274(53):38177-82. [PubMed
]
|
| Enzyme 85 Metabolite References |
Not Available |
|
Enzyme 86
[top]
|
| Enzyme 86 ID |
8673 |
| Enzyme 86 Name |
Sodium-coupled neutral amino acid transporter 4 |
| Enzyme 86 Synonyms |
- Amino acid transporter A3
- Na(+)-coupled neutral amino acid transporter 4
- Solute carrier family 38 member 4
- System A amino acid transporter 3
- System N amino acid transporter 3
|
| Enzyme 86 Gene Name |
SLC38A4 |
| Enzyme 86 Protein Sequence |
>Sodium-coupled neutral amino acid transporter 4
MDPMELRNVNIEPDDESSSGESAPDSYIGIGNSEKAAMSSQFANEDTESQKFLTNGFLGK
KKLADYADEHHPGTTSFGMSSFNLSNAIMGSGILGLSYAMANTGIILFIIMLLAVAILSL
YSVHLLLKTAKEGGSLIYEKLGEKAFGWPGKIGAFVSITMQNIGAMSSYLFIIKYELPEV
IRAFMGLEENTGEWYLNGNYLIIFVSVGIILPLSLLKNLGYLGYTSGFSLTCMVFFVSVV
IYKKFQIPCPLPVLDHSVGNLSFNNTLPMHVVMLPNNSESSDVNFMMDYTHRNPAGLDEN
QAKGSLHDSGVEYEAHSDDKCEPKYFVFNSRTAYAIPILVFAFVCHPEVLPIYSELKDRS
RRKMQTVSNISITGMLVMYLLAALFGYLTFYGEVEDELLHAYSKVYTLDIPLLMVRLAVL
VAVTLTVPIVLFPIRTSVITLLFPKRPFSWIRHFLIAAVLIALNNVLVILVPTIKYIFGF
IGASSATMLIFILPAVFYLKLVKKETFRSPQKVGALIFLVVGIFFMIGSMALIIIDWIYD
PPNSKHH
|
| Enzyme 86 Number of Residues |
547 |
| Enzyme 86 Molecular Weight |
60763.6 |
| Enzyme 86 Theoretical pI |
6.45 |
| Enzyme 86 GO Classification |
Not Available |
| Enzyme 86 General Function |
Amino acid transport and metabolism |
| Enzyme 86 Specific Function |
Sodium-dependent amino acid transporter. Mediates electrogenic symport of neutral amino acids and sodium ions. Has a broad specificity, with a preference for Ala, followed by His, Cys, Asn, Ser, Gly, Val, Thr, Gln and Met. May mediate sodium- independent transport of cationic amino acids, such as Arg and Lys. Amino acid uptake is pH-dependent, with low transport activities at pH 6.5, intermediate at pH 7.0 and highest between pH 7.5 and 8.5 |
| Enzyme 86 Pathways |
Not Available |
| Enzyme 86 Reactions |
Not Available |
| Enzyme 86 Pfam Domain Function |
|
| Enzyme 86 Signals |
|
| Enzyme 86 Transmembrane Regions |
- 81-101
105-125
152-172
196-216
221-241
333-353
370-390
412-432
454-474
477-497
515-535
|
| Enzyme 86 Essentiality |
Not Available |
| Enzyme 86 GenBank ID Protein |
18369789  |
| Enzyme 86 UniProtKB/Swiss-Prot ID |
Q969I6  |
| Enzyme 86 UniProtKB/Swiss-Prot Entry Name |
S38A4_HUMAN  |
| Enzyme 86 PDB ID |
Not Available |
| Enzyme 86 Cellular Location |
Not Available |
| Enzyme 86 Gene Sequence |
>1644 bp
ATGGATCCCATGGAACTGAGAAATGTCAACATCGAACCAGATGATGAGAGCAGCAGTGGA
GAAAGTGCTCCAGATAGCTACATCGGGATAGGAAATTCAGAAAAGGCAGCAATGAGCAGT
CAATTTGCTAATGAAGACACTGAAAGTCAGAAATTCCTGACAAATGGATTTTTGGGGAAA
AAGAAGCTGGCAGATTATGCTGATGAACACCATCCCGGAACCACTTCCTTTGGAATGTCT
TCATTTAACCTGAGTAATGCCATCATGGGCAGTGGGATCCTGGGCTTGTCCTATGCCATG
GCCAACACAGGGATCATACTTTTTATAATCATGCTGCTTGCTGTGGCAATATTATCACTG
TATTCAGTTCACCTTTTATTAAAAACAGCCAAGGAAGGAGGGTCTTTGATTTATGAAAAA
TTAGGAGAAAAGGCATTTGGATGGCCGGGAAAAATTGGAGCTTTTGTTTCCATTACAATG
CAGAACATTGGAGCAATGTCAAGCTACCTCTTTATCATTAAATATGAACTACCTGAAGTA
ATCAGAGCATTCATGGGACTTGAAGAAAATACTGGAGAATGGTACCTCAATGGCAACTAC
CTCATCATATTTGTGTCTGTTGGAATTATTCTTCCACTTTCGCTCCTTAAAAATTTAGGT
TATCTTGGCTATACCAGTGGATTTTCTCTTACCTGCATGGTGTTTTTTGTTAGTGTGGTG
ATTTACAAGAAATTCCAAATACCCTGCCCTCTACCTGTTTTGGATCACAGTGTTGGAAAT
CTGTCATTCAACAACACGCTTCCAATGCATGTGGTAATGTTACCCAACAACTCTGAGAGT
TCTGATGTGAACTTCATGATGGATTACACCCACCGCAATCCTGCAGGGCTGGATGAGAAC
CAGGCCAAGGGCTCTCTTCATGACAGTGGAGTAGAATATGAAGCTCATAGTGATGACAAG
TGTGAACCCAAATACTTTGTATTCAACTCCCGGACGGCCTATGCAATTCCTATCCTAGTA
TTTGCTTTTGTATGCCACCCTGAGGTCCTTCCCATCTACAGTGAACTTAAAGATCGGTCC
CGGAGAAAAATGCAAACGGTGTCAAATATTTCCATCACGGGGATGCTTGTCATGTACCTG
CTTGCCGCCCTCTTTGGTTACCTAACCTTCTATGGAGAAGTTGAAGATGAATTACTTCAT
GCCTACAGCAAAGTGTATACATTAGACATCCCTCTTCTCATGGTTCGCCTGGCAGTCCTT
GTGGCAGTAACACTAACTGTGCCCATTGTCCTCTTCCCAATTCGTACATCAGTGATCACA
CTGTTATTTCCCAAACGACCCTTCAGCTGGATACGACATTTCCTGATTGCAGCTGTGCTT
ATTGCACTTAATAATGTTCTGGTCATCCTTGTGCCAACTATAAAATACATCTTCGGATTC
ATAGGGGCTTCTTCTGCCACTATGCTGATTTTTATTCTTCCAGCAGTTTTTTATCTTAAA
CTTGTCAAGAAAGAAACTTTTAGGTCACCCCAAAAGGTCGGGGCTTTAATTTTCCTTGTG
GTTGGAATATTCTTCATGATTGGAAGCATGGCACTCATTATAATTGACTGGATTTATGAT
CCTCCAAATTCCAAGCATCACTAA
|
| Enzyme 86 GenBank Gene ID |
AB055003  |
| Enzyme 86 GeneCard ID |
SLC38A4  |
| Enzyme 86 GenAtlas ID |
SLC38A4  |
| Enzyme 86 HGNC ID |
HGNC:14679  |
| Enzyme 86 Chromosome Location |
1 |
| Enzyme 86 Locus |
12q13 |
| Enzyme 86 SNPs |
SNPJam Report  |
| Enzyme 86 General References |
- Hatanaka T, Huang W, Ling R, Prasad PD, Sugawara M, Leibach FH, Ganapathy V: Evidence for the transport of neutral as well as cationic amino acids by ATA3, a novel and liver-specific subtype of amino acid transport system A. Biochim Biophys Acta. 2001 Feb 9;1510(1-2):10-7. [PubMed
]
- Gu S, Adan-Rice D, Leach RJ, Jiang JX: A novel human amino acid transporter, hNAT3: cDNA cloning, chromosomal mapping, genomic structure, expression, and functional characterization. Genomics. 2001 Jun 15;74(3):262-72. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Mackenzie B, Erickson JD: Sodium-coupled neutral amino acid (System N/A) transporters of the SLC38 gene family. Pflugers Arch. 2004 Feb;447(5):784-95. Epub 2003 Jul 4. [PubMed
]
- Desforges M, Lacey HA, Glazier JD, Greenwood SL, Mynett KJ, Speake PF, Sibley CP: SNAT4 isoform of system A amino acid transporter is expressed in human placenta. Am J Physiol Cell Physiol. 2006 Jan;290(1):C305-12. Epub 2005 Sep 7. [PubMed
]
|
| Enzyme 86 Metabolite References |
Not Available |
|
Enzyme 87
[top]
|
| Enzyme 87 ID |
8680 |
| Enzyme 87 Name |
Excitatory amino acid transporter 1 |
| Enzyme 87 Synonyms |
- Sodium-dependent glutamate/aspartate transporter 1
- GLAST-1
- Solute carrier family 1 member 3
|
| Enzyme 87 Gene Name |
SLC1A3 |
| Enzyme 87 Protein Sequence |
>Excitatory amino acid transporter 1
MTKSNGEEPKMGGRMERFQQGVRKRTLLAKKKVQNITKEDVKSYLFRNAFVLLTVTAVIV
GTILGFTLRPYRMSYREVKYFSFPGELLMRMLQMLVLPLIISSLVTGMAALDSKASGKMG
MRAVVYYMTTTIIAVVIGIIIVIIIHPGKGTKENMHREGKIVRVTAADAFLDLIRNMFPP
NLVEACFKQFKTNYEKRSFKVPIQANETLVGAVINNVSEAMETLTRITEELVPVPGSVNG
VNALGLVVFSMCFGFVIGNMKEQGQALREFFDSLNEAIMRLVAVIMWYAPVGILFLIAGK
IVEMEDMGVIGGQLAMYTVTVIVGLLIHAVIVLPLLYFLVTRKNPWVFIGGLLQALITAL
GTSSSSATLPITFKCLEENNGVDKRVTRFVLPVGATINMDGTALYEALAAIFIAQVNNFE
LNFGQIITISITATAASIGAAGIPQAGLVTMVIVLTSVGLPTDDITLIIAVDWFLDRLRT
TTNVLGDSLGAGIVEHLSRHELKNRDVEMGNSVIEENEMKKPYQLIAQDNETEKPIDSET
KM
|
| Enzyme 87 Number of Residues |
542 |
| Enzyme 87 Molecular Weight |
59571.9 |
| Enzyme 87 Theoretical pI |
8.69 |
| Enzyme 87 GO Classification |
| Function |
- carboxylic acid transmembrane transporter activity
- dicarboxylic acid transmembrane transporter activity
- organic acid transmembrane transporter activity
- sodium:dicarboxylate symporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- carboxylic acid transport
- dicarboxylic acid transport
- establishment of localization
- organic acid transport
- transport
|
| Component |
|
|
| Enzyme 87 General Function |
Involved in sodium:dicarboxylate symporter activity |
| Enzyme 87 Specific Function |
Transports L-glutamate and also L- and D-aspartate. Essential for terminating the postsynaptic action of glutamate by rapidly removing released glutamate from the synaptic cleft. Acts as a symport by cotransporting sodium |
| Enzyme 87 Pathways |
Not Available |
| Enzyme 87 Reactions |
Not Available |
| Enzyme 87 Pfam Domain Function |
|
| Enzyme 87 Signals |
|
| Enzyme 87 Transmembrane Regions |
- 48-68
91-111
123-145
238-260
281-302
319-340
|
| Enzyme 87 Essentiality |
Not Available |
| Enzyme 87 GenBank ID Protein |
189065391  |
| Enzyme 87 UniProtKB/Swiss-Prot ID |
P43003  |
| Enzyme 87 UniProtKB/Swiss-Prot Entry Name |
EAA1_HUMAN  |
| Enzyme 87 PDB ID |
Not Available |
| Enzyme 87 Cellular Location |
Not Available |
| Enzyme 87 Gene Sequence |
>1629 bp
ATGACTAAAAGCAATGGAGAAGAGCCCAAGATGGGGGGCAGGATGGAGAGATTCCAGCAG
GGAGTCCGTAAACGCACACTTTTGGCCAAGAAGAAAGTGCAGAACATTACAAAGGAGGAT
GTTAAAAGTTACCTGTTTCGGAATGCTTTTGTGCTGCTCACAGTCACCGCTGTCATTGTG
GGTACAATCCTTGGATTTACCCTCCGACCATACAGAATGAGCTACCGGGAAGTCAAGTAC
TTCTCCTTTCCTGGGGAACTTCTGATGAGGATGTTACAGATGCTGGTCTTACCACTTATC
ATCTCCAGTCTTGTCACAGGAATGGCGGCGCTAGATAGTAAGGCATCAGGGAAGATGGGA
ATGCGAGCTGTAGTCTATTATATGACTACCACCATCATTGCTGTGGTGATTGGCATAATC
ATTGTCATCATCATCCATCCTGGGAAGGGCACAAAGGAAAACATGCACAGAGAAGGCAAA
ATTGTACGAGTGACAGCTGCAGATGCCTTCCTGGACTTGATCAGGAACATGTTCCCTCCA
AATCTGGTAGAAGCCTGCTTTAAACAGTTTAAAACCAACTATGAGAAGAGAAGCTTTAAA
GTGCCCATCCAGGCCAACGAAACGCTTGTGGGTGCTGTGATAAACAATGTGTCTGAGGCC
ATGGAGACTCTTACCCGAATCACAGAGGAGCTGGTCCCAGTTCCAGGATCTGTGAATGGA
GTCAATGCCCTGGGTCTAGTTGTCTTCTCCATGTGCTTCGGTTTTGTGATTGGAAACATG
AAGGAACAGGGGCAGGCCCTGAGAGAGTTCTTTGATTCTCTTAACGAAGCCATCATGAGA
CTGGTAGCAGTAATAATGTGGTATGCCCCCGTGGGTATTCTCTTCCTGATTGCTGGGAAG
ATTGTGGAGATGGAAGACATGGGTGTGATTGGGGGGCAGCTTGCCATGTACACCGTGACT
GTCATTGTTGGCTTACTCATTCACGCAGTCATCGTCTTGCCACTCCTCTACTTCTTGGTA
ACACGGAAAAACCCTTGGGTTTTTATTGGAGGGTTGCTGCAAGCACTCATCACCGCTCTG
GGGACCTCTTCAAGTTCTGCCACCCTACCCATCACCTTCAAGTGCCTGGAAGAGAACAAT
GGCGTGGACAAGCGCGTCACCAGATTCGTGCTCCCCGTAGGAGCCACCATTAACATGGAT
GGGACTGCCCTCTATGAGGCTTTGGCTGCCATTTTCATTGCTCAAGTTAACAACTTTGAA
CTGAACTTCGGACAAATTATTACAATCAGCATCACAGCCACAGCTGCCAGTATTGGGGCA
GCTGGAATTCCTCAGGCGGGCCTGGTCACTATGGTCATTGTGCTGACATCTGTCGGCCTG
CCCACTGACGACATCACGCTCATCATCGCGGTGGACTGGTTCCTGGATCGCCTCCGGACC
ACCACCAACGTACTGGGAGACTCCCTGGGAGCTGGGATTGTGGAGCACTTGTCACGACAT
GAACTGAAGAACAGAGATGTTGAAATGGGTAACTCAGTGATTGAAGAGAATGAAATGAAG
AAACCATATCAACTGATTGCACAGGACAATGAAACTGAGAAACCCATCGACAGTGAAACC
AAGATGTAG
|
| Enzyme 87 GenBank Gene ID |
AK312304  |
| Enzyme 87 GeneCard ID |
SLC1A3  |
| Enzyme 87 GenAtlas ID |
SLC1A3  |
| Enzyme 87 HGNC ID |
HGNC:10941  |
| Enzyme 87 Chromosome Location |
5 |
| Enzyme 87 Locus |
5p13 |
| Enzyme 87 SNPs |
SNPJam Report  |
| Enzyme 87 General References |
- Shashidharan P, Plaitakis A: Cloning and characterization of a glutamate transporter cDNA from human cerebellum. Biochim Biophys Acta. 1993 Oct 19;1216(1):161-4. [PubMed
]
- Arriza JL, Fairman WA, Wadiche JI, Murdoch GH, Kavanaugh MP, Amara SG: Functional comparisons of three glutamate transporter subtypes cloned from human motor cortex. J Neurosci. 1994 Sep;14(9):5559-69. [PubMed
]
- Kawakami H, Tanaka K, Nakayama T, Inoue K, Nakamura S: Cloning and expression of a human glutamate transporter. Biochem Biophys Res Commun. 1994 Feb 28;199(1):171-6. [PubMed
]
- Stoffel W, Sasse J, Duker M, Muller R, Hofmann K, Fink T, Lichter P: Human high affinity, Na(+)-dependent L-glutamate/L-aspartate transporter GLAST-1 (EAAT-1): gene structure and localization to chromosome 5p11-p12. FEBS Lett. 1996 May 20;386(2-3):189-93. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. Epub 2008 Jul 31. [PubMed
]
- Jen JC, Wan J, Palos TP, Howard BD, Baloh RW: Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. Neurology. 2005 Aug 23;65(4):529-34. [PubMed
]
|
| Enzyme 87 Metabolite References |
Not Available |
|
Enzyme 88
[top]
|
| Enzyme 88 ID |
8682 |
| Enzyme 88 Name |
Solute carrier family 23 member 2 |
| Enzyme 88 Synonyms |
- Na(+)/L-ascorbic acid transporter 2
- Nucleobase transporter-like 1 protein
- Sodium-dependent vitamin C transporter 2
- hSVCT2
- Yolk sac permease-like molecule 2
|
| Enzyme 88 Gene Name |
SLC23A2 |
| Enzyme 88 Protein Sequence |
>Solute carrier family 23 member 2
MMGIGKNTTSKSMEAGSSTEGKYEDEAKHPAFFTLPVVINGGATSSGEQDNEDTELMAIY
TTENGIAEKSSLAETLDSTGSLDPQRSDMIYTIEDVPPWYLCIFLGLQHYLTCFSGTIAV
PFLLADAMCVGYDQWATSQLIGTIFFCVGITTLLQTTFGCRLPLFQASAFAFLAPARAIL
SLDKWKCNTTDVSVANGTAELLHTEHIWYPRIREIQGAIIMSSLIEVVIGLLGLPGALLK
YIGPLTITPTVALIGLSGFQAAGERAGKHWGIAMLTIFLVLLFSQYARNVKFPLPIYKSK
KGWTAYKLQLFKMFPIILAILVSWLLCFIFTVTDVFPPDSTKYGFYARTDARQGVLLVAP
WFKVPYPFQWGLPTVSAAGVIGMLSAVVASIIESIGDYYACARLSCAPPPPIHAINRGIF
VEGLSCVLDGIFGTGNGSTSSSPNIGVLGITKVGSRRVIQCGAALMLALGMIGKFSALFA
SLPDPVLGALFCTLFGMITAVGLSNLQFIDLNSSRNLFVLGFSIFFGLVLPSYLRQNPLV
TGITGIDQVLNVLLTTAMFVGGCVAFILDNTIPGTPEERGIRKWKKGVGKGNKSLDGMES
YNLPFGMNIIKKYRCFSYLPISPTFVGYTWKGLRKSDNSRSSDEDSQATG
|
| Enzyme 88 Number of Residues |
650 |
| Enzyme 88 Molecular Weight |
70336.2 |
| Enzyme 88 Theoretical pI |
7.74 |
| Enzyme 88 GO Classification |
| Function |
|
| Process |
- establishment of localization
- transmembrane transport
- transport
|
| Component |
|
|
| Enzyme 88 General Function |
Nucleotide transport and metabolism |
| Enzyme 88 Specific Function |
Sodium/ascorbate cotransporter. Mediates electrogenic uptake of vitamin C, with a stoichiometry of 2 Na(+) for each ascorbate |
| Enzyme 88 Pathways |
Not Available |
| Enzyme 88 Reactions |
Not Available |
| Enzyme 88 Pfam Domain Function |
|
| Enzyme 88 Signals |
|
| Enzyme 88 Transmembrane Regions |
- 103-123
140-160
162-182
219-239
242-262
267-287
313-333
372-392
462-482
486-506
514-534
548-568
|
| Enzyme 88 Essentiality |
Not Available |
| Enzyme 88 GenBank ID Protein |
3789789  |
| Enzyme 88 UniProtKB/Swiss-Prot ID |
Q9UGH3  |
| Enzyme 88 UniProtKB/Swiss-Prot Entry Name |
S23A2_HUMAN  |
| Enzyme 88 PDB ID |
Not Available |
| Enzyme 88 Cellular Location |
Not Available |
| Enzyme 88 Gene Sequence |
>1953 bp
ATGATGGGTATTGGTAAGAATACCACATCCAAATCAATGGAGGCTGGAAGTTCAACAGAA
GGCAAATACGAAGACGAGGCAAAGCACCCAGCTTTCTTCACTCTTCCGGTGGTGATAAAT
GGAGGCGCCACCTCCAGCGGTGAGCAGGACAATGAGGACACTGAGCTCATGGCGATCTAC
ACTACGGAAAACGGCATTGCAGAAAAGAGCTCTCTCGCTGAGACCCTGGATAGCACTGGC
AGTCTGGACCCCCAGCGATCAGACATGATTTATACCATAGAAGATGTTCCTCCCTGGTAC
CTGTGTATATTTCTGGGGCTACAGCACTACCTGACATGCTTCAGCGGCACGATCGCAGTG
CCCTTCCTGTTGGCCGATGCCATGTGTGTGGGGTACGACCAGTGGGCCACCAGCCAGCTC
ATTGGGACCATTTTCTTCTGTGTGGGAATCACTACTTTGCTACAGACAACGTTTGGATGC
AGGTTACCCCTGTTTCAGACCAGTGCTTTTGCATTTTTGGCCCCTGCTCGAGCCATCCTG
TCTTTAGATAAATGGAAATGTAACACCACAGATGTTTCAGTTGCCAATGGAACAGCAGAG
CTGTTGCACACAGAACACATCTGGTATCCCCGGATCCGAGAGATCCAGGGGGCCATCATC
ATGTCCTCACTGATAGAAGTAGTCATCGGCCTCCTCGGCCTGCCTGGGGCTCTACTGAAG
TACATCGGTCCCTTGACCATTACACCCACGGTGGCCCTAATTGGCCTCTCTGGTTTCCAG
GCAGCGGGGGAGAGAGCCGGGAAGCACTGGGGCATTGCCATGCTGACAATATTCCTAGTA
TTACTGTTTTCTCAATACGCCAGAAATGTTAAATTTCCTCTCCCGATTTATAAATCCAAG
AAAGGATGGACTGCGTACAAGTTACAGCTGTTCAAAATGTTCCCTATCATCCTGGCCATC
CTGGTATCCTGGCTGCTCTGCTTCATCTTCACGGTGACAGATGTCTTCCCTCCCGACAGC
ACAAAGTATGGCTTCTATGCTCGCACAGATGCCAGGCAAGGCGTGCTTCTGGTAGCCCCG
TGGTTTAAGGTTCCATACCCATTTCAGTGGGGACTGCCCACCGTGTCTGCGGCCGGTGTC
ATCGGCATGCTCAGTGCCGTGGTCGCCAGCATCATCGAGTCTATTGGTGACTACTACGCC
TGTGCACGGCTGTCCTGTGCCCCACCCCCCCCCATCCACGCAATAAACAGGGGAATTTTC
GTGGAAGGCCTCTCCTGTGTTCTTGATGGCATATTTGGTACTGGGAATGGCTCTACTTCA
TCCAGTCCCAACATTGGAGTTTTGGGAATTACAAAGGTCGGCAGCCGCCGCGTGATACAG
TGCGGAGCAGCCCTCATGCTCGCTCTGGGCATGATCGGGAAGTTCAGCGCCCTCTTTGCG
TCCCTTCCGGATCCTGTGCTGGGAGCCCTGTTCTGCACGCTCTTTGGAATGATCACAGCT
GTTGGCCTCTCTAACCTGCAGTTCATTGATTTAAATTCTTCCCGGAACCTCTTTGTGCTT
GGATTTTCGATCTTCTTTGGGCTCGTCCTTCCAAGTTACCTCAGACAGAACCCTCTGGTC
ACAGGGATAACAGGAATCGATCAAGTGTTGAACGTCCTTCTCACAACTGCTATGTTTGTA
GGGGGCTGTGTGGCTTTTATCCTGGATAACACCATCCCAGGCACTCCAGAGGAAAGAGGA
ATCCGGAAATGGAAGAAGGGTGTGGGCAAAGGGAACAAATCACTCGACGGCATGGAGTCG
TACAATTTGCCATTTGGCATGAACATTATAAAAAAATACAGATGCTTCAGCTACTTACCC
ATCAGCCCAACCTTTGTGGGCTACACATGGAAAGGCCTCAGGAAGAGCGACAACAGCCGG
AGTTCAGATGAAGACTCCCAGGCCACGGGATAG
|
| Enzyme 88 GenBank Gene ID |
AF058319  |
| Enzyme 88 GeneCard ID |
SLC23A2  |
| Enzyme 88 GenAtlas ID |
Not Available |
| Enzyme 88 HGNC ID |
Not Available |
| Enzyme 88 Chromosome Location |
2 |
| Enzyme 88 Locus |
20p13 |
| Enzyme 88 SNPs |
SNPJam Report  |
| Enzyme 88 General References |
- Faaland CA, Race JE, Ricken G, Warner FJ, Williams WJ, Holtzman EJ: Molecular characterization of two novel transporters from human and mouse kidney and from LLC-PK1 cells reveals a novel conserved family that is homologous to bacterial and Aspergillus nucleobase transporters. Biochim Biophys Acta. 1998 Nov 8;1442(2-3):353-60. [PubMed
]
- Rajan DP, Huang W, Dutta B, Devoe LD, Leibach FH, Ganapathy V, Prasad PD: Human placental sodium-dependent vitamin C transporter (SVCT2): molecular cloning and transport function. Biochem Biophys Res Commun. 1999 Sep 7;262(3):762-8. [PubMed
]
- Daruwala R, Song J, Koh WS, Rumsey SC, Levine M: Cloning and functional characterization of the human sodium-dependent vitamin C transporters hSVCT1 and hSVCT2. FEBS Lett. 1999 Nov 5;460(3):480-4. [PubMed
]
- Hogue DL, Ling V: A human nucleobase transporter-like cDNA (SLC23A1): member of a transporter family conserved from bacteria to mammals. Genomics. 1999 Jul 1;59(1):18-23. [PubMed
]
- Liang WJ, Johnson D, Jarvis SM: Vitamin C transport systems of mammalian cells. Mol Membr Biol. 2001 Jan-Mar;18(1):87-95. [PubMed
]
- Nagase T, Seki N, Ishikawa K, Ohira M, Kawarabayasi Y, Ohara O, Tanaka A, Kotani H, Miyajima N, Nomura N: Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. DNA Res. 1996 Oct 31;3(5):321-9, 341-54. [PubMed
]
- Nakajima D, Okazaki N, Yamakawa H, Kikuno R, Ohara O, Nagase T: Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. DNA Res. 2002 Jun 30;9(3):99-106. [PubMed
]
- Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M, Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE, Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C, Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A, Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA, Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S, Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K, Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A, Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM, Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ, Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE, Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C, Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L, Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA, Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S, Rogers J: The DNA sequence and comparative analysis of human chromosome 20. Nature. 2001 Dec 20-27;414(6866):865-71. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. Sci Signal. 2009 Aug 18;2(84):ra46. [PubMed
]
|
| Enzyme 88 Metabolite References |
Not Available |
|
Enzyme 89
[top]
|
| Enzyme 89 ID |
8686 |
| Enzyme 89 Name |
Carbonic anhydrase 4 |
| Enzyme 89 Synonyms |
- Carbonate dehydratase IV
- Carbonic anhydrase IV
- CA-IV
|
| Enzyme 89 Gene Name |
CA4 |
| Enzyme 89 Protein Sequence |
>Carbonic anhydrase 4
MRMLLALLALSAARPSASAESHWCYEVQAESSNYPCLVPVKWGGNCQKDRQSPINIVTTK
AKVDKKLGRFFFSGYDKKQTWTVQNNGHSVMMLLENKASISGGGLPAPYQAKQLHLHWSD
LPYKGSEHSLDGEHFAMEMHIVHEKEKGTSRNVKEAQDPEDEIAVLAFLVEAGTQVNEGF
QPLVEALSNIPKPEMSTTMAESSLLDLLPKEEKLRHYFRYLGSLTTPTCDEKVVWTVFRE
PIQLHREQILAFSQKLYYDKEQTVSMKDNVRPLQQLGQRTVIKSGAPGRPLPWALPALLG
PMLACLLAGFLR
|
| Enzyme 89 Number of Residues |
312 |
| Enzyme 89 Molecular Weight |
35032.1 |
| Enzyme 89 Theoretical pI |
7.94 |
| Enzyme 89 GO Classification |
| Function |
- binding
- carbon-oxygen lyase activity
- carbonate dehydratase activity
- catalytic activity
- cation binding
- hydro-lyase activity
- ion binding
- lyase activity
- metal ion binding
- transition metal ion binding
- zinc ion binding
|
| Process |
- cellular metabolic process
- metabolic process
- one-carbon metabolic process
|
| Component |
- anchored to membrane
- cell part
- intrinsic to membrane
- membrane
- membrane part
- plasma membrane
|
|
| Enzyme 89 General Function |
Involved in carbonate dehydratase activity |
| Enzyme 89 Specific Function |
Reversible hydration of carbon dioxide. May stimulate the sodium/bicarbonate transporter activity of SLC4A4 |
| Enzyme 89 Pathways |
|
| Enzyme 89 Reactions |
- H2CO3 = CO2 + H2O [RN:R00132]
|
| Enzyme 89 Pfam Domain Function |
|
| Enzyme 89 Signals |
|
| Enzyme 89 Transmembrane Regions |
|
| Enzyme 89 Essentiality |
Not Available |
| Enzyme 89 GenBank ID Protein |
Not Available |
| Enzyme 89 UniProtKB/Swiss-Prot ID |
P22748  |
| Enzyme 89 UniProtKB/Swiss-Prot Entry Name |
CAH4_HUMAN  |
| Enzyme 89 PDB ID |
1ZNC  |
| Enzyme 89 PDB File |
Show |
| Enzyme 89 3D Structure |
|
| Enzyme 89 Cellular Location |
Not Available |
| Enzyme 89 Gene Sequence |
>939 bp
ATGCGGATGCTGCTGGCGCTCCTGGCCCTCTCCGCGGCGCGGCCATCGGCCAGTGCAGAG
TCACACTGGTGCTACGAGGTTCAAGCCGAGTCCTCCAACTACCCCTGCTTGGTGCCAGTC
AAGTGGGGTGGAAACTGCCAGAAGGACCGCCAGTCCCCCATCAACATCGTCACCACCAAG
GCAAAGGTGGACAAAAAACTGGGACGCTTCTTCTTCTCTGGCTACGATAAGAAGCAAACG
TGGACTGTCCAAAATAACGGGCACTCAGTGATGATGTTGCTGGAGAACAAGGCCAGCATT
TCTGGAGGAGGACTGCCTGCCCCATACCAGGCCAAACAGTTGCACCTGCACTGGTCCGAC
TTGCCATATAAGGGCTCGGAGCACAGCCTCGATGGGGAGCACTTTGCCATGGAGATGCAC
ATAGTACATGAGAAAGAGAAGGGGACATCGAGGAATGTGAAAGAGGCCCAGGACCCTGAA
GACGAAATTGCGGTGCTGGCCTTTCTGGTGGAGGCTGGAACCCAGGTGAACGAGGGCTTC
CAGCCACTGGTGGAGGCACTGTCTAATATCCCCAAACCTGAGATGAGCACTACGATGGCA
GAGAGCAGCCTGTTGGACCTGCTCCCCAAGGAGGAGAAACTGAGGCACTACTTCCGCTAC
CTGGGCTCACTCACCACACCGACCTGCGATGAGAAGGTCGTCTGGACTGTGTTCCGGGAG
CCCATTCAGCTTCACAGAGAACAGATCCTGGCATTCTCTCAGAAGCTGTACTACGACAAG
GAACAGACAGTGAGCATGAAGGACAATGTCAGGCCCCTGCAGCAGCTGGGGCAGCGCACG
GTGATAAAGTCCGGGGCCCCGGGTCGGCCGCTGCCCTGGGCCCTGCCTGCCCTGCTGGGC
CCCATGCTGGCCTGCCTGCTGGCCGGCTTCCTGCGATGA
|
| Enzyme 89 GenBank Gene ID |
M83670  |
| Enzyme 89 GeneCard ID |
CA4  |
| Enzyme 89 GenAtlas ID |
CA4  |
| Enzyme 89 HGNC ID |
HGNC:1375  |
| Enzyme 89 Chromosome Location |
1 |
| Enzyme 89 Locus |
17q23 |
| Enzyme 89 SNPs |
SNPJam Report  |
| Enzyme 89 General References |
- Okuyama T, Sato S, Zhu XL, Waheed A, Sly WS: Human carbonic anhydrase IV: cDNA cloning, sequence comparison, and expression in COS cell membranes. Proc Natl Acad Sci U S A. 1992 Feb 15;89(4):1315-9. [PubMed
]
- Okuyama T, Batanian JR, Sly WS: Genomic organization and localization of gene for human carbonic anhydrase IV to chromosome 17q. Genomics. 1993 Jun;16(3):678-84. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Zhu XL, Sly WS: Carbonic anhydrase IV from human lung. Purification, characterization, and comparison with membrane carbonic anhydrase from human kidney. J Biol Chem. 1990 May 25;265(15):8795-801. [PubMed
]
- Waheed A, Okuyama T, Heyduk T, Sly WS: Carbonic anhydrase IV: purification of a secretory form of the recombinant human enzyme and identification of the positions and importance of its disulfide bonds. Arch Biochem Biophys. 1996 Sep 15;333(2):432-8. [PubMed
]
- Okuyama T, Waheed A, Kusumoto W, Zhu XL, Sly WS: Carbonic anhydrase IV: role of removal of C-terminal domain in glycosylphosphatidylinositol anchoring and realization of enzyme activity. Arch Biochem Biophys. 1995 Jul 10;320(2):315-22. [PubMed
]
- Temperini C, Scozzafava A, Vullo D, Supuran CT: Carbonic anhydrase activators. Activation of isozymes I, II, IV, VA, VII, and XIV with l- and d-histidine and crystallographic analysis of their adducts with isoform II: engineering proton-transfer processes within the active site of an enzyme. Chemistry. 2006 Sep 18;12(27):7057-66. [PubMed
]
- Temperini C, Scozzafava A, Vullo D, Supuran CT: Carbonic anhydrase activators. Activation of isoforms I, II, IV, VA, VII, and XIV with L- and D-phenylalanine and crystallographic analysis of their adducts with isozyme II: stereospecific recognition within the active site of an enzyme and its consequences for the drug design. J Med Chem. 2006 May 18;49(10):3019-27. [PubMed
]
- Kohler K, Hillebrecht A, Schulze Wischeler J, Innocenti A, Heine A, Supuran CT, Klebe G: Saccharin inhibits carbonic anhydrases: possible explanation for its unpleasant metallic aftertaste. Angew Chem Int Ed Engl. 2007;46(40):7697-9. [PubMed
]
- Temperini C, Innocenti A, Scozzafava A, Mastrolorenzo A, Supuran CT: Carbonic anhydrase activators: L-Adrenaline plugs the active site entrance of isozyme II, activating better isoforms I, IV, VA, VII, and XIV. Bioorg Med Chem Lett. 2007 Feb 1;17(3):628-35. Epub 2006 Nov 15. [PubMed
]
- Temperini C, Innocenti A, Guerri A, Scozzafava A, Rusconi S, Supuran CT: Phosph(on)ate as a zinc-binding group in metalloenzyme inhibitors: X-ray crystal structure of the antiviral drug foscarnet complexed to human carbonic anhydrase I. Bioorg Med Chem Lett. 2007 Apr 15;17(8):2210-5. Epub 2007 Feb 8. [PubMed
]
- Crocetti L, Maresca A, Temperini C, Hall RA, Scozzafava A, Muhlschlegel FA, Supuran CT: A thiabendazole sulfonamide shows potent inhibitory activity against mammalian and nematode alpha-carbonic anhydrases. Bioorg Med Chem Lett. 2009 Mar 1;19(5):1371-5. Epub 2009 Jan 19. [PubMed
]
- Maresca A, Temperini C, Vu H, Pham NB, Poulsen SA, Scozzafava A, Quinn RJ, Supuran CT: Non-zinc mediated inhibition of carbonic anhydrases: coumarins are a new class of suicide inhibitors. J Am Chem Soc. 2009 Mar 4;131(8):3057-62. [PubMed
]
- Di Fiore A, Monti SM, Hilvo M, Parkkila S, Romano V, Scaloni A, Pedone C, Scozzafava A, Supuran CT, De Simone G: Crystal structure of human carbonic anhydrase XIII and its complex with the inhibitor acetazolamide. Proteins. 2009 Jan;74(1):164-75. [PubMed
]
- Stams T, Nair SK, Okuyama T, Waheed A, Sly WS, Christianson DW: Crystal structure of the secretory form of membrane-associated human carbonic anhydrase IV at 2.8-A resolution. Proc Natl Acad Sci U S A. 1996 Nov 26;93(24):13589-94. [PubMed
]
- Yang Z, Alvarez BV, Chakarova C, Jiang L, Karan G, Frederick JM, Zhao Y, Sauve Y, Li X, Zrenner E, Wissinger B, Hollander AI, Katz B, Baehr W, Cremers FP, Casey JR, Bhattacharya SS, Zhang K: Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. Hum Mol Genet. 2005 Jan 15;14(2):255-65. Epub 2004 Nov 24. [PubMed
]
|
| Enzyme 89 Metabolite References |
Not Available |
|
Enzyme 90
[top]
|
| Enzyme 90 ID |
8691 |
| Enzyme 90 Name |
Sodium/potassium/calcium exchanger 3 |
| Enzyme 90 Synonyms |
- Na(+)/K(+)/Ca(2+)-exchange protein 3
- Solute carrier family 24 member 3
|
| Enzyme 90 Gene Name |
SLC24A3 |
| Enzyme 90 Protein Sequence |
>Sodium/potassium/calcium exchanger 3
MRPSGDEDRARRRRRRRRRRDLLLSQLCFLASVALLLWSLSSLREQKELDLMDLVGEDRK
WMMARKLMQVNDTLTSEDAGLRNSKNCTEPALHEFPNDIFTNEDRRQGAVVLHVLCAIYM
FYALAIVCDDFFVPSLEKICERLHLSEDVAGATFMAAGSSAPELFTSVIGVFITKGDVGV
GTIVGSAVFNILCIIGVCGLFAGQVVALSSWCLLRDSIYYTLSVIALIVFIYDEKVSWWE
SLVLVLMYLIYIVIMKYNACIHQCFERRTKGAGNMVNGLANNAEIDDSSNCDATVVLLKK
ANFHRKASVIMVDELLSAYPHQLSFSEAGLRIMITSHFPPKTRLSMASRMLINERQRLIN
SRAYTNGESEVAIKIPIKHTVENGTGPSSAPDRGVNGTRRDDVVAEAGNETENENEDNEN
DEEEEEDEDDDEGPYTPFDTPSGKLETVKWAFTWPLSFVLYFTVPNCNKPRWEKWFMVTF
ASSTLWIAAFSYMMVWMVTIIGYTLGIPDVIMGITFLAAGTSVPDCMASLIVARQGMGDM
AVSNSIGSNVFDILIGLGLPWALQTLAVDYGSYIRLNSRGLIYSVGLLLASVFVTVFGVH
LNKWQLDKKLGCGCLLLYGVFLCFSIMTEFNVFTFVNLPMCGDH
|
| Enzyme 90 Number of Residues |
644 |
| Enzyme 90 Molecular Weight |
71991.4 |
| Enzyme 90 Theoretical pI |
4.98 |
| Enzyme 90 GO Classification |
| Function |
| — |
| Process |
- establishment of localization
- transmembrane transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane part
|
|
| Enzyme 90 General Function |
Involved in transmembrane transport |
| Enzyme 90 Specific Function |
Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+) |
| Enzyme 90 Pathways |
Not Available |
| Enzyme 90 Reactions |
Not Available |
| Enzyme 90 Pfam Domain Function |
|
| Enzyme 90 Signals |
|
| Enzyme 90 Transmembrane Regions |
- 108-128
154-174
183-203
211-231
235-255
485-505
511-531
550-570
581-601
616-636
|
| Enzyme 90 Essentiality |
Not Available |
| Enzyme 90 GenBank ID Protein |
31563526  |
| Enzyme 90 UniProtKB/Swiss-Prot ID |
Q9HC58  |
| Enzyme 90 UniProtKB/Swiss-Prot Entry Name |
NCKX3_HUMAN  |
| Enzyme 90 PDB ID |
Not Available |
| Enzyme 90 Cellular Location |
Not Available |
| Enzyme 90 Gene Sequence |
>1935 bp
ATGCGGCCGTCCGGCGACGAGGACCGCGCGCGTCGCCGCCGCCGCCGCCGCCGCCGGAGG
GACCTTCTGCTGAGCCAGCTCTGCTTCCTGGCCTCGGTGGCGCTGCTGCTCTGGTCGCTG
TCGAGCCTGCGAGAGCAGAAGGAGCTTGACCTCATGGACCTCGTAGGGGAAGACAGAAAG
TGGATGATGGCGAGGAAGCTGATGCAGGTGAACGACACTCTGACTTCCGAAGATGCCGGA
CTCCGGAACAGCAAGAACTGCACCGAACCAGCCCTGCATGAATTCCCCAATGACATCTTC
ACAAACGAGGATAGAAGACAAGGTGCGGTGGTCCTCCATGTGCTCTGTGCCATATACATG
TTCTATGCGCTGGCCATTGTGTGTGATGACTTCTTCGTCCCTTCCTTGGAAAAGATCTGT
GAGCGCCTGCACCTCAGTGAAGATGTGGCTGGGGCCACATTCATGGCAGCGGGAAGTTCG
GCCCCAGAGCTGTTCACATCGGTCATAGGGGTCTTCATCACCAAAGGCGATGTGGGAGTT
GGCACCATCGTGGGCTCAGCGGTATTCAACATCCTGTGCATCATTGGTGTCTGTGGGCTC
TTTGCTGGGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTAC
ACGCTGTCTGTGATCGCGCTCATCGTGTTTATTTATGATGAAAAAGTTTCCTGGTGGGAG
TCTTTAGTCCTTGTGCTGATGTATCTTATCTACATTGTCATCATGAAATATAACGCTTGC
ATACATCAGTGCTTTGAGAGGAGGACAAAAGGTGCCGGGAACATGGTCAACGGATTGGCC
AACAATGCTGAAATTGATGACAGCAGCAACTGCGACGCAACTGTGGTGCTACTTAAGAAA
GCAAATTTCCACCGCAAAGCATCAGTGATCATGGTAGACGAGCTGCTGTCAGCCTACCCA
CACCAGCTTTCCTTCTCTGAGGCTGGCCTTCGAATCATGATAACCAGCCACTTTCCCCCC
AAGACCCGGCTCTCCATGGCCAGTCGCATGTTGATCAATGAGAGACAAAGATTGATAAAC
AGCAGGGCTTATACCAACGGGGAATCTGAGGTGGCCATCAAAATCCCAATTAAGCACACC
GTGGAGAATGGGACAGGGCCCAGCAGTGCCCCAGACAGGGGCGTGAATGGGACACGGAGG
GACGATGTTGTGGCTGAGGCTGGCAACGAAACAGAGAATGAAAATGAGGACAATGAGAAT
GATGAGGAGGAAGAGGAGGACGAGGATGATGATGAAGGACCGTACACACCATTCGACACC
CCCTCGGGTAAACTGGAAACAGTGAAATGGGCGTTCACCTGGCCGCTGAGTTTCGTCTTA
TACTTCACTGTACCCAACTGCAACAAGCCGCGCTGGGAGAAATGGTTCATGGTGACGTTT
GCTTCCTCCACGCTGTGGATCGCAGCCTTCTCCTACATGATGGTGTGGATGGTCACAATC
ATTGGTTACACCCTGGGGATTCCTGACGTCATCATGGGGATCACCTTCCTGGCTGCTGGG
ACCAGCGTGCCTGACTGCATGGCCAGCCTCATTGTGGCCAGACAAGGGATGGGGGACATG
GCTGTGTCCAACTCCATTGGGAGCAACGTGTTTGACATCCTGATTGGCCTCGGTCTCCCC
TGGGCTCTGCAGACCCTGGCTGTGGATTACGGATCCTACATCCGGCTGAATAGCAGGGGG
CTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTGTTCGGCGTCCAC
CTGAACAAGTGGCAGCTGGACAAGAAGCTGGGCTGTGGGTGCCTCCTCCTGTATGGTGTG
TTCCTGTGCTTCTCCATCATGACTGAGTTCAACGTGTTCACCTTTGTGAACCTGCCCATG
TGCGGGGACCACTGA
|
| Enzyme 90 GenBank Gene ID |
NM_020689.3  |
| Enzyme 90 GeneCard ID |
SLC24A3  |
| Enzyme 90 GenAtlas ID |
SLC24A3  |
| Enzyme 90 HGNC ID |
HGNC:10977  |
| Enzyme 90 Chromosome Location |
2 |
| Enzyme 90 Locus |
20p13 |
| Enzyme 90 SNPs |
SNPJam Report  |
| Enzyme 90 General References |
- Kraev A, Quednau BD, Leach S, Li XF, Dong H, Winkfein R, Perizzolo M, Cai X, Yang R, Philipson KD, Lytton J: Molecular cloning of a third member of the potassium-dependent sodium-calcium exchanger gene family, NCKX3. J Biol Chem. 2001 Jun 22;276(25):23161-72. Epub 2001 Apr 9. [PubMed
]
- Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M, Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE, Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C, Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A, Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA, Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S, Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K, Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A, Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM, Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ, Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE, Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C, Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L, Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA, Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S, Rogers J: The DNA sequence and comparative analysis of human chromosome 20. Nature. 2001 Dec 20-27;414(6866):865-71. [PubMed
]
|
| Enzyme 90 Metabolite References |
Not Available |
|
Enzyme 91
[top]
|
| Enzyme 91 ID |
8692 |
| Enzyme 91 Name |
Sodium/potassium-transporting ATPase subunit alpha-4 |
| Enzyme 91 Synonyms |
- Na(+)/K(+) ATPase alpha-4 subunit
- Sodium pump subunit alpha-4
|
| Enzyme 91 Gene Name |
ATP1A4 |
| Enzyme 91 Protein Sequence |
>Sodium/potassium-transporting ATPase subunit alpha-4
MGLWGKKGTVAPHDQSPRRRPKKGLIKKKMVKREKQKRNMEELKKEVVMDDHKLTLEELS
TKYSVDLTKGHSHQRAKEILTRGGPNTVTPPPTTPEWVKFCKQLFGGFSLLLWTGAILCF
VAYSIQIYFNEEPTKDNLYLSIVLSVVVIVTGCFSYYQEAKSSKIMESFKNMVPQQALVI
RGGEKMQINVQEVVLGDLVEIKGGDRVPADLRLISAQGCKVDNSSLTGESEPQSRSPDFT
HENPLETRNICFFSTNCVEGTARGIVIATGDSTVMGRIASLTSGLAVGQTPIAAEIEHFI
HLITVVAVFLGVTFFALSLLLGYGWLEAIIFLIGIIVANVPEGLLATVTVCLTLTAKRMA
RKNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDMTVYEADTTEEQTGKTFT
KSSDTWFMLARIAGLCNRADFKANQEILPIAKRATTGDASESALLKFIEQSYSSVAEMRE
KNPKVAEIPFNSTNKYQMSIHLREDSSQTHVLMMKGAPERILEFCSTFLLNGQEYSMNDE
MKEAFQNAYLELGGLGERVLGFCFLNLPSSFSKGFPFNTDEINFPMDNLCFVGLISMIDP
PRAAVPDAVSKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGTETAEEVAARLKIPISK
VDASAAKAIVVHGAELKDIQSKQLDQILQNHPEIVFARTSPQQKLIIVEGCQRLGAVVAV
TGDGVNDSPALKKADIGIAMGISGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKK
SIMYTLTSNIPEITPFLMFIILGIPLPLGTITILCIDLGTDMVPAISLAYESAESDIMKR
LPRNPKTDNLVNHRLIGMAYGQIGMIQALAGFFTYFVILAENGFRPVDLLGIRLHWEDKY
LNDLEDSYGQQWTYEQRKVVEFTCQTAFFVTIVVVQWADLIISKTRRNSLFQQGMRNKVL
IFGILEETLLAAFLSYTPGMDVALRMYPLKITWWLCAIPYSILIFVYDEIRKLLIRQHPD
GWVERETYY
|
| Enzyme 91 Number of Residues |
1029 |
| Enzyme 91 Molecular Weight |
114165.4 |
| Enzyme 91 Theoretical pI |
6.61 |
| Enzyme 91 GO Classification |
| Function |
- ATP binding
- ATPase activity, coupled to transmembrane movement of ions
- ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism
- adenyl nucleotide binding
- adenyl ribonucleotide binding
- binding
- catalytic activity
- cation transmembrane transporter activity
- hydrolase activity
- hydrolase activity, acting on acid anhydrides
- hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances
- inorganic cation transmembrane transporter activity
- ion transmembrane transporter activity
- monovalent inorganic cation transmembrane transporter activity
- nucleoside binding
- purine nucleoside binding
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- ATP biosynthetic process
- cation transport
- cellular nitrogen compound metabolic process
- establishment of localization
- ion transport
- metabolic process
- monovalent inorganic cation transport
- nitrogen compound metabolic process
- nucleobase, nucleoside and nucleotide metabolic process
- nucleobase, nucleoside, nucleotide and nucleic acid metabolic process
- nucleoside phosphate metabolic process
- nucleotide metabolic process
- purine nucleoside triphosphate biosynthetic process
- purine nucleotide biosynthetic process
- purine nucleotide metabolic process
- purine ribonucleoside triphosphate biosynthetic process
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 91 General Function |
Involved in ATP binding |
| Enzyme 91 Specific Function |
This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients |
| Enzyme 91 Pathways |
Not Available |
| Enzyme 91 Reactions |
- ATP + H2O + Na+in + K+out = ADP + phosphate + Na+out + K+in [RN:R00086]
|
| Enzyme 91 Pfam Domain Function |
|
| Enzyme 91 Signals |
|
| Enzyme 91 Transmembrane Regions |
- 96-116
140-160
297-316
329-346
779-798
809-829
850-872
925-944
958-976
992-1012
|
| Enzyme 91 Essentiality |
Not Available |
| Enzyme 91 GenBank ID Protein |
153946397  |
| Enzyme 91 UniProtKB/Swiss-Prot ID |
Q13733  |
| Enzyme 91 UniProtKB/Swiss-Prot Entry Name |
AT1A4_HUMAN  |
| Enzyme 91 PDB ID |
Not Available |
| Enzyme 91 Cellular Location |
Not Available |
| Enzyme 91 Gene Sequence |
>3090 bp
ATGGGGCTTTGGGGGAAGAAAGGGACAGTGGCTCCCCATGACCAGAGTCCAAGACGAAGA
CCTAAAAAAGGGCTTATCAAGAAAAAAATGGTGAAGAGGGAAAAACAGAAGCGCAATATG
GAGGAACTGAAGAAGGAAGTGGTCATGGATGATCACAAATTAACCTTGGAAGAGCTGAGC
ACCAAGTACTCCGTGGACCTGACAAAGGGCCATAGCCACCAAAGGGCAAAGGAAATCCTG
ACTCGAGGTGGACCCAATACTGTTACCCCACCCCCCACCACTCCAGAATGGGTCAAATTC
TGTAAGCAACTGTTCGGAGGCTTCTCCCTCCTACTATGGACTGGGGCCATTCTCTGCTTT
GTGGCCTACAGCATCCAGATATATTTCAATGAGGAGCCTACCAAAGACAACCTCTACCTG
AGCATCGTACTGTCCGTCGTGGTCATCGTCACTGGCTGCTTCTCCTATTATCAGGAGGCC
AAGAGCTCCAAGATCATGGAGTCTTTTAAGAACATGGTGCCTCAGCAAGCTCTGGTAATT
CGAGGAGGAGAGAAGATGCAAATTAATGTACAAGAGGTGGTGTTGGGAGACCTGGTGGAA
ATCAAGGGTGGAGACCGAGTCCCTGCTGACCTCCGGCTTATCTCTGCACAAGGATGTAAG
GTGGACAACTCATCCTTGACTGGGGAGTCAGAACCCCAGAGCCGCTCCCCTGACTTCACC
CATGAGAACCCTCTGGAGACCCGAAACATCTGCTTCTTTTCCACCAACTGTGTGGAAGGA
ACCGCCCGGGGTATTGTGATTGCTACGGGAGACTCCACAGTGATGGGCAGAATTGCCTCC
CTGACGTCAGGCCTGGCGGTTGGCCAGACACCTATCGCTGCTGAGATCGAACACTTCATC
CATCTGATCACTGTGGTGGCCGTCTTCCTTGGTGTCACTTTTTTTGCGCTCTCACTTCTC
TTGGGCTATGGTTGGCTGGAGGCTATCATTTTTCTCATTGGCATCATTGTGGCCAATGTG
CCTGAGGGGCTGTTGGCCACAGTCACTGTGTGCCTGACCCTCACAGCCAAGCGCATGGCG
CGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACC
ATCTGCTCAGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGG
TTTGATATGACCGTGTATGAGGCCGACACCACTGAAGAACAGACTGGAAAAACATTTACC
AAGAGCTCTGATACCTGGTTTATGCTGGCCCGAATCGCTGGCCTCTGCAACCGGGCTGAC
TTTAAGGCTAATCAGGAGATCCTGCCCATTGCTAAGAGGGCCACAACAGGTGATGCTTCC
GAGTCAGCCCTCCTCAAGTTCATCGAGCAGTCTTACAGCTCTGTGGCGGAGATGAGAGAG
AAAAACCCCAAGGTGGCAGAGATTCCCTTTAATTCTACCAACAAGTACCAGATGTCCATC
CACCTTCGGGAGGACAGCTCCCAGACCCACGTACTGATGATGAAGGGTGCTCCGGAGAGG
ATCTTGGAGTTTTGTTCTACCTTTCTTCTGAATGGGCAGGAGTACTCAATGAACGATGAA
ATGAAGGAAGCCTTCCAAAATGCCTACTTAGAACTGGGAGGTCTGGGGGAACGTGTGCTA
GGCTTCTGCTTCTTGAATCTGCCTAGCAGCTTCTCCAAGGGATTCCCATTTAATACAGAT
GAAATAAATTTCCCCATGGACAACCTTTGTTTTGTGGGCCTCATATCCATGATTGACCCT
CCCCGAGCTGCAGTGCCTGATGCTGTGAGCAAGTGTCGCAGTGCAGGAATTAAGGTGATC
ATGGTAACAGGAGATCATCCCATTACAGCTAAGGCCATTGCCAAGGGTGTGGGCATCATC
TCAGAAGGCACTGAGACGGCAGAGGAAGTCGCTGCCCGGCTTAAGATCCCTATCAGCAAG
GTCGATGCCAGTGCTGCCAAAGCCATTGTGGTGCATGGTGCAGAACTGAAGGACATACAG
TCCAAGCAGCTTGATCAGATCCTCCAGAACCACCCTGAGATCGTGTTTGCTCGGACCTCC
CCTCAGCAGAAGCTCATCATTGTCGAGGGATGTCAGAGGCTGGGAGCCGTTGTGGCCGTG
ACAGGTGACGGGGTGAACGACTCCCCTGCGCTGAAGAAGGCTGACATTGGCATTGCCATG
GGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAAC
TTTGCCTCCATCGTCACGGGGGTGGAGGAGGGCCGCCTGATCTTTGACAACCTGAAGAAA
TCCATCATGTACACCCTGACCAGCAACATCCCCGAGATCACGCCCTTCCTGATGTTCATC
ATCCTCGGTATACCCCTGCCTCTGGGAACCATAACCATCCTCTGCATTGATCTCGGCACT
GACATGGTCCCTGCCATCTCCTTGGCTTATGAGTCAGCTGAAAGCGACATCATGAAGAGG
CTTCCAAGGAACCCAAAGACGGATAATCTGGTGAACCACCGTCTCATTGGCATGGCCTAT
GGACAGATTGGGATGATCCAGGCTCTGGCTGGATTCTTTACCTACTTTGTAATCCTGGCT
GAGAATGGTTTTAGGCCTGTTGATCTGCTGGGCATCCGCCTCCACTGGGAAGATAAATAC
TTGAATGACCTGGAGGACAGCTACGGACAGCAGTGGACCTATGAGCAACGAAAAGTTGTG
GAGTTCACATGCCAAACGGCCTTTTTTGTCACCATCGTGGTTGTGCAGTGGGCGGATCTC
ATCATCTCCAAGACTCGCCGCAACTCACTTTTCCAGCAGGGCATGAGAAACAAAGTCTTA
ATATTTGGGATCCTGGAGGAGACACTCTTGGCTGCATTTCTGTCCTACACTCCAGGCATG
GACGTGGCCCTGCGAATGTACCCACTCAAGATAACCTGGTGGCTCTGTGCCATTCCCTAC
AGTATTCTCATCTTCGTCTATGATGAAATCAGAAAACTCCTCATCCGTCAGCACCCGGAT
GGCTGGGTGGAAAGGGAGACGTACTACTAA
|
| Enzyme 91 GenBank Gene ID |
NM_144699.3  |
| Enzyme 91 GeneCard ID |
ATP1A4  |
| Enzyme 91 GenAtlas ID |
ATP1A4  |
| Enzyme 91 HGNC ID |
HGNC:14073  |
| Enzyme 91 Chromosome Location |
1 |
| Enzyme 91 Locus |
1q21-q23 |
| Enzyme 91 SNPs |
SNPJam Report  |
| Enzyme 91 General References |
- Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C, Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K, Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C, Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G, Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V, Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M, Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J, French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM, Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD, Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S, Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S, Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K, Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G, Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL, Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z, Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R, Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S, Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD, Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF, Pandian RD, Porter KM, Prigmore E: The DNA sequence and biological annotation of human chromosome 1. Nature. 2006 May 18;441(7091):315-21. [PubMed
]
- Keryanov S, Gardner KL: Physical mapping and characterization of the human Na,K-ATPase isoform, ATP1A4. Gene. 2002 Jun 12;292(1-2):151-66. [PubMed
]
- Shamraj OI, Lingrel JB: A putative fourth Na+,K(+)-ATPase alpha-subunit gene is expressed in testis. Proc Natl Acad Sci U S A. 1994 Dec 20;91(26):12952-6. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M: Lysine acetylation targets protein complexes and co-regulates major cellular functions. Science. 2009 Aug 14;325(5942):834-40. Epub 2009 Jul 16. [PubMed
]
|
| Enzyme 91 Metabolite References |
Not Available |
|
Enzyme 92
[top]
|
| Enzyme 92 ID |
8698 |
| Enzyme 92 Name |
Excitatory amino acid transporter 2 |
| Enzyme 92 Synonyms |
- Glutamate/aspartate transporter II
- Sodium-dependent glutamate/aspartate transporter 2
- Solute carrier family 1 member 2
|
| Enzyme 92 Gene Name |
SLC1A2 |
| Enzyme 92 Protein Sequence |
>Excitatory amino acid transporter 2
MASTEGANNMPKQVEVRMHDSHLGSEEPKHRHLGLRLCDKLGKNLLLTLTVFGVILGAVC
GGLLRLASPIHPDVVMLIAFPGDILMRMLKMLILPLIISSLITGLSGLDAKASGRLGTRA
MVYYMSTTIIAAVLGVILVLAIHPGNPKLKKQLGPGKKNDEVSSLDAFLDLIRNLFPENL
VQACFQQIQTVTKKVLVAPPPDEEANATSAVVSLLNETVTEVPEETKMVIKKGLEFKDGM
NVLGLIGFFIAFGIAMGKMGDQAKLMVDFFNILNEIVMKLVIMIMWYSPLGIACLICGKI
IAIKDLEVVARQLGMYMVTVIIGLIIHGGIFLPLIYFVVTRKNPFSFFAGIFQAWITALG
TASSAGTLPVTFRCLEENLGIDKRVTRFVLPVGATINMDGTALYEAVAAIFIAQMNGVVL
DGGQIVTVSLTATLASVGAASIPSAGLVTMLLILTAVGLPTEDISLLVAVDWLLDRMRTS
VNVVGDSFGAGIVYHLSKSELDTIDSQHRVHEDIEMTKTQSIYDDMKNHRESNSNQCVYA
AHNSVIVDECKVTLAANGKSADCSVEEEPWKREK
|
| Enzyme 92 Number of Residues |
574 |
| Enzyme 92 Molecular Weight |
62103.7 |
| Enzyme 92 Theoretical pI |
6.51 |
| Enzyme 92 GO Classification |
| Function |
- carboxylic acid transmembrane transporter activity
- dicarboxylic acid transmembrane transporter activity
- organic acid transmembrane transporter activity
- sodium:dicarboxylate symporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- carboxylic acid transport
- dicarboxylic acid transport
- establishment of localization
- organic acid transport
- transport
|
| Component |
|
|
| Enzyme 92 General Function |
Involved in sodium:dicarboxylate symporter activity |
| Enzyme 92 Specific Function |
Transports L-glutamate and also L- and D-aspartate. Essential for terminating the postsynaptic action of glutamate by rapidly removing released glutamate from the synaptic cleft. Acts as a symport by cotransporting sodium |
| Enzyme 92 Pathways |
Not Available |
| Enzyme 92 Reactions |
Not Available |
| Enzyme 92 Pfam Domain Function |
|
| Enzyme 92 Signals |
|
| Enzyme 92 Transmembrane Regions |
- 45-64
88-108
121-142
240-259
280-301
317-339
406-430
437-459
|
| Enzyme 92 Essentiality |
Not Available |
| Enzyme 92 GenBank ID Protein |
40254478  |
| Enzyme 92 UniProtKB/Swiss-Prot ID |
P43004  |
| Enzyme 92 UniProtKB/Swiss-Prot Entry Name |
EAA2_HUMAN  |
| Enzyme 92 PDB ID |
Not Available |
| Enzyme 92 Cellular Location |
Not Available |
| Enzyme 92 Gene Sequence |
>1725 bp
ATGGCATCTACGGAAGGTGCCAACAATATGCCCAAGCAGGTGGAAGTGCGAATGCACGAC
AGTCATCTTGGCTCAGAGGAACCCAAGCACCGGCACCTGGGCCTGCGCCTGTGTGACAAG
CTGGGGAAGAATCTGCTGCTCACCCTGACGGTGTTTGGTGTCATCCTGGGAGCAGTGTGT
GGAGGGCTTCTTCGCTTGGCATCTCCCATCCACCCTGATGTGGTTATGTTAATAGCCTTC
CCAGGGGATATACTCATGAGGATGCTAAAAATGCTCATTCTCCCTCTAATCATCTCCAGC
TTAATCACAGGGTTGTCAGGCCTGGATGCTAAGGCTAGTGGCCGCTTGGGCACGAGAGCC
ATGGTGTATTACATGTCCACGACCATCATTGCTGCAGTACTGGGGGTCATTCTGGTCTTG
GCTATCCATCCAGGCAATCCCAAGCTCAAGAAGCAGCTGGGGCCTGGGAAGAAGAATGAT
GAAGTGTCCAGCCTGGATGCCTTCCTGGACCTTATTCGAAATCTCTTCCCTGAAAACCTT
GTCCAAGCCTGCTTTCAACAGATTCAAACAGTGACGAAGAAAGTCCTGGTTGCACCACCG
CCGGACGAGGAGGCCAACGCAACCAGCGCTGTTGTCTCTCTGTTGAACGAGACTGTGACT
GAGGTGCCGGAGGAGACTAAGATGGTTATCAAGAAGGGCCTGGAGTTCAAGGATGGGATG
AACGTCTTAGGTCTGATAGGGTTTTTCATTGCTTTTGGCATCGCTATGGGGAAGATGGGA
GATCAGGCCAAGCTGATGGTGGATTTCTTCAACATTTTGAATGAGATTGTAATGAAGTTA
GTGATCATGATCATGTGGTACTCTCCCCTGGGTATCGCCTGCCTGATCTGTGGAAAGATC
ATTGCAATCAAGGACTTAGAAGTGGTTGCTAGGCAACTGGGGATGTACATGGTAACAGTG
ATCATAGGCCTCATCATCCACGGGGGCATCTTTCTCCCCTTGATTTACTTTGTAGTGACC
AGGAAAAACCCCTTCTCCTTTTTTGCTGGCATTTTCCAAGCTTGGATCACTGCCCTGGGC
ACCGCTTCCAGTGCTGGAACTTTGCCTGTCACCTTTCGTTGCCTGGAAGAAAATCTGGGG
ATTGATAAGCGTGTGACTAGATTCGTCCTTCCTGTTGGAGCAACCATTAACATGGATGGT
ACAGCCCTTTATGAAGCGGTAGCCGCCATCTTTATAGCCCAAATGAATGGTGTTGTCCTG
GATGGAGGACAGATTGTGACTGTAAGCCTCACAGCCACCCTGGCAAGCGTCGGCGCGGCC
AGTATCCCCAGTGCCGGGCTGGTCACCATGCTCCTCATTCTGACAGCCGTGGGCCTGCCA
ACAGAGGACATCAGCCTGCTGGTGGCTGTGGACTGGCTGCTGGACAGGATGAGAACTTCA
GTCAATGTTGTGGGTGACTCTTTTGGGGCTGGGATAGTCTATCACCTCTCCAAGTCTGAG
CTGGATACCATTGACTCCCAGCATCGAGTGCATGAAGATATTGAAATGACCAAGACTCAA
TCCATTTATGATGACATGAAGAACCACAGGGAAAGCAACTCTAATCAATGTGTCTATGCT
GCACACAACTCTGTCATAGTAGATGAATGCAAGGTAACTCTGGCAGCCAATGGAAAGTCA
GCCGACTGCAGTGTTGAGGAAGAACCTTGGAAACGTGAGAAATAA
|
| Enzyme 92 GenBank Gene ID |
NM_004171  |
| Enzyme 92 GeneCard ID |
SLC1A2  |
| Enzyme 92 GenAtlas ID |
SLC1A2  |
| Enzyme 92 HGNC ID |
HGNC:10940  |
| Enzyme 92 Chromosome Location |
1 |
| Enzyme 92 Locus |
11p13-p12 |
| Enzyme 92 SNPs |
SNPJam Report  |
| Enzyme 92 General References |
- Arriza JL, Fairman WA, Wadiche JI, Murdoch GH, Kavanaugh MP, Amara SG: Functional comparisons of three glutamate transporter subtypes cloned from human motor cortex. J Neurosci. 1994 Sep;14(9):5559-69. [PubMed
]
- Shashidharan P, Wittenberg I, Plaitakis A: Molecular cloning of human brain glutamate/aspartate transporter II. Biochim Biophys Acta. 1994 May 11;1191(2):393-6. [PubMed
]
- Manfras BJ, Rudert WA, Trucco M, Boehm BO: Cloning and characterization of a glutamate transporter cDNA from human brain and pancreas. Biochim Biophys Acta. 1994 Oct 12;1195(1):185-8. [PubMed
]
- Shimamoto K, Lebrun B, Yasuda-Kamatani Y, Sakaitani M, Shigeri Y, Yumoto N, Nakajima T: DL-threo-beta-benzyloxyaspartate, a potent blocker of excitatory amino acid transporters. Mol Pharmacol. 1998 Feb;53(2):195-201. [PubMed
]
- Kim SY, Chao W, Choi SY, Volsky DJ: Cloning and characterization of the 3'-untranslated region of the human excitatory amino acid transporter 2 transcript. J Neurochem. 2003 Sep;86(6):1458-67. [PubMed
]
- Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E, Chang JL, Cuomo CA, Eichler E, FitzGerald MG, Jaffe DB, LaButti K, Nicol R, Park HS, Seaman C, Sougnez C, Yang X, Zimmer AR, Zody MC, Birren BW, Nusbaum C, Fujiyama A, Hattori M, Rogers J, Lander ES, Sakaki Y: Human chromosome 11 DNA sequence and analysis including novel gene identification. Nature. 2006 Mar 23;440(7083):497-500. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Gendreau S, Voswinkel S, Torres-Salazar D, Lang N, Heidtmann H, Detro-Dassen S, Schmalzing G, Hidalgo P, Fahlke C: A trimeric quaternary structure is conserved in bacterial and human glutamate transporters. J Biol Chem. 2004 Sep 17;279(38):39505-12. Epub 2004 Jul 20. [PubMed
]
- DeGiorgis JA, Jaffe H, Moreira JE, Carlotti CG Jr, Leite JP, Pant HC, Dosemeci A: Phosphoproteomic analysis of synaptosomes from human cerebral cortex. J Proteome Res. 2005 Mar-Apr;4(2):306-15. [PubMed
]
|
| Enzyme 92 Metabolite References |
Not Available |
|
Enzyme 93
[top]
|
| Enzyme 93 ID |
8709 |
| Enzyme 93 Name |
Sodium-driven chloride bicarbonate exchanger |
| Enzyme 93 Synonyms |
- Solute carrier family 4 member 10
|
| Enzyme 93 Gene Name |
SLC4A10 |
| Enzyme 93 Protein Sequence |
>Sodium-driven chloride bicarbonate exchanger
MEIKDQGAQMEPLLPTRNDEEAVVDRGGTRSILKTHFEKEDLEGHRTLFIGVHVPLGGRK
SHRRHRHRGHKHRKRDRERDSGLEDGRESPSFDTPSQRVQFILGTEDDDEEHIPHDLFTE
LDEICWREGEDAEWRETARWLKFEEDVEDGGERWSKPYVATLSLHSLFELRSCILNGTVL
LDMHANTLEEIADMVLDQQVSSGQLNEDVRHRVHEALMKQHHHQNQKKLTNRIPIVRSFA
DIGKKQSEPNSMDKNAGQVVSPQSAPACVENKNDVSRENSTVDFSKGLGGQQKGHTSPCG
MKQRHEKGPPHQQEREVDLHFMKKIPPGAEASNILVGELEFLDRTVVAFVRLSPAVLLQG
LAEVPIPTRFLFILLGPLGKGQQYHEIGRSIATLMTDEVFHDVAYKAKDRNDLVSGIDEF
LDQVTVLPPGEWDPSIRIEPPKNVPSQEKRKIPAVPNGTAAHGEAEPHGGHSGPELQRTG
RIFGGLILDIKRKAPYFWSDFRDAFSLQCLASFLFLYCACMSPVITFGGLLGEATEGRIS
AIESLFGASMTGIAYSLFGGQPLTILGSTGPVLVFEKILFKFCKEYGLSYLSLRASIGLW
TATLCIILVATDASSLVCYITRFTEEAFASLICIIFIYEALEKLFELSEAYPINMHNDLE
LLTQYSCNCVEPHNPSNGTLKEWRESNISASDIIWENLTVSECKSLHGEYVGRACGHDHP
YVPDVLFWSVILFFSTVTLSATLKQFKTSRYFPTKVRSIVSDFAVFLTILCMVLIDYAIG
IPSPKLQVPSVFKPTRDDRGWFVTPLGPNPWWTVIAAIIPALLCTILIFMDQQITAVIIN
RKEHKLKKGCGYHLDLLMVAVMLGVCSIMGLPWFVAATVLSITHVNSLKLESECSAPGEQ
PKFLGIREQRVTGLMIFILMGSSVFMTSILKFIPMPVLYGVFLYMGASSLKGIQFFDRIK
LFWMPAKHQPDFIYLRHVPLRKVHLFTIIQMSCLGLLWIIKVSRAAIVFPMMVLALVFVR
KLMDLLFTKRELSWLDDLMPESKKKKLEDAEKEEEQSMLAMEDEGTVQLPLEGHYRDDPS
VINISDEMSKTALWRNLLITADNSKDKESSFPSKSSPS
|
| Enzyme 93 Number of Residues |
1118 |
| Enzyme 93 Molecular Weight |
125945.1 |
| Enzyme 93 Theoretical pI |
6.47 |
| Enzyme 93 GO Classification |
| Function |
- anion transmembrane transporter activity
- anion:anion antiporter activity
- inorganic anion exchanger activity
- ion transmembrane transporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- anion transport
- establishment of localization
- ion transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 93 General Function |
Involved in inorganic anion exchanger activity |
| Enzyme 93 Specific Function |
Electrogenic sodium/bicarbonate cotransporter in exchange for intracellular chloride. Plays an important role in regulating intracellular pH |
| Enzyme 93 Pathways |
Not Available |
| Enzyme 93 Reactions |
Not Available |
| Enzyme 93 Pfam Domain Function |
|
| Enzyme 93 Signals |
|
| Enzyme 93 Transmembrane Regions |
- 510-530
539-559
563-583
597-617
627-647
721-741
763-783
810-830
856-876
913-933
936-956
999-1019
|
| Enzyme 93 Essentiality |
Not Available |
| Enzyme 93 GenBank ID Protein |
295821221  |
| Enzyme 93 UniProtKB/Swiss-Prot ID |
Q6U841  |
| Enzyme 93 UniProtKB/Swiss-Prot Entry Name |
S4A10_HUMAN  |
| Enzyme 93 PDB ID |
Not Available |
| Enzyme 93 Cellular Location |
Not Available |
| Enzyme 93 Gene Sequence |
>3357 bp
ATGGAGATTAAAGACCAGGGAGCCCAAATGGAGCCGCTGCTGCCTACGAGAAATGATGAA
GAAGCAGTTGTGGATAGAGGTGGAACTCGTTCTATTCTCAAAACACACTTTGAGAAAGAA
GATTTAGAAGGTCATCGAACACTATTTATTGGAGTACATGTGCCCTTGGGAGGAAGAAAA
AGCCATCGACGTCACAGGCATCGTGGTCATAAACACAGAAAGAGAGACAGAGAAAGAGAT
TCAGGATTAGAGGATGGAAGGGAGTCACCTTCTTTTGACACCCCATCACAGAGGGTACAG
TTTATTCTTGGAACCGAGGATGATGACGAGGAACACATTCCTCATGACCTTTTCACAGAA
CTGGATGAGATTTGTTGGCGTGAAGGTGAGGACGCTGAGTGGCGAGAAACAGCCAGGTGG
TTGAAGTTTGAAGAAGATGTGGAAGATGGAGGAGAAAGGTGGAGCAAGCCTTATGTGGCT
ACTCTTTCATTGCACAGCTTGTTTGAATTGAGAAGTTGTATTCTGAATGGAACTGTGTTG
CTGGACATGCATGCCAACACTTTAGAAGAAATTGCAGATATGGTTCTTGACCAACAAGTG
AGCTCAGGTCAGCTGAATGAAGATGTACGCCATAGGGTCCATGAGGCATTGATGAAACAG
CATCATCATCAGAATCAGAAAAAACTCACCAACAGGATTCCCATTGTTCGTTCCTTTGCT
GATATTGGCAAGAAACAGTCAGAACCAAATTCCATGGACAAAAATGCAGGTCAGGTTGTT
TCTCCTCAGTCTGCTCCAGCCTGTGTTGAAAATAAAAATGATGTTAGCAGAGAAAACAGC
ACTGTTGACTTTAGCAAGGGACTGGGAGGCCAACAAAAGGGGCATACTAGTCCATGTGGG
ATGAAACAAAGGCATGAAAAAGGACCTCCACACCAGCAAGAGAGAGAGGTTGATCTGCAT
TTTATGAAAAAGATTCCTCCAGGTGCTGAAGCATCGAACATCTTAGTGGGAGAACTGGAG
TTCTTGGATCGAACAGTAGTTGCGTTTGTCAGGTTGTCTCCAGCTGTATTGCTTCAAGGA
CTGGCTGAAGTCCCAATCCCAACCAGATTTTTGTTCATTCTTCTGGGACCCCTGGGAAAG
GGTCAACAGTACCATGAGATTGGCAGATCAATTGCAACCCTAATGACAGATGAGGTATTT
CATGATGTTGCCTATAAAGCTAAAGATCGTAATGACTTGGTATCAGGAATTGATGAGTTT
CTGGATCAGGTTACTGTTCTCCCTCCTGGAGAATGGGATCCAAGCATTCGAATAGAGCCT
CCCAAAAATGTTCCTTCCCAGGAGAAGAGGAAGATTCCTGCTGTACCAAATGGAACAGCA
GCTCATGGGGAAGCAGAGCCCCACGGAGGACATAGTGGACCTGAACTCCAGCGAACTGGA
AGGATTTTTGGGGGACTTATTTTAGATATCAAAAGAAAAGCTCCATACTTCTGGAGTGAC
TTCAGAGATGCTTTCAGCCTGCAGTGCTTAGCATCTTTTCTATTTCTCTACTGCGCGTGT
ATGTCTCCTGTCATCACGTTTGGAGGACTGCTGGGAGAAGCAACTGAAGGGCGTATAAGT
GCAATTGAATCTCTCTTTGGAGCATCCATGACCGGGATAGCCTATTCTCTCTTTGGTGGA
CAGCCTCTTACCATATTAGGCAGTACAGGACCAGTTTTGGTGTTTGAAAAGATTTTGTTT
AAATTTTGCAAAGAATATGGGCTGTCATACCTATCTTTAAGAGCTAGCATTGGACTTTGG
ACTGCAACTCTATGTATCATACTTGTGGCCACAGATGCTAGTTCCCTTGTCTGCTACATC
ACTCGGTTTACTGAAGAAGCTTTTGCTTCCCTGATTTGCATCATTTTCATTTATGAGGCC
CTGGAGAAGTTGTTTGAACTCAGTGAAGCATATCCAATCAACATGCATAATGATCTGGAA
CTGCTGACACAATACTCGTGTAACTGTGTGGAACCGCATAATCCCAGCAATGGCACATTG
AAGGAATGGAGGGAATCCAATATTTCTGCCTCTGACATAATTTGGGAGAACCTAACTGTG
TCAGAATGCAAATCATTGCATGGAGAGTATGTTGGACGGGCCTGTGGCCATGATCACCCA
TATGTTCCAGATGTTCTATTTTGGTCTGTGATCCTGTTCTTTTCCACAGTTACTCTGTCA
GCCACCCTGAAGCAGTTCAAGACTAGCAGATATTTTCCAACCAAGGTTCGATCCATAGTG
AGTGACTTTGCTGTCTTTCTTACAATTCTGTGTATGGTTTTAATTGACTATGCCATTGGG
ATCCCATCTCCAAAACTACAAGTACCAAGTGTTTTCAAGCCCACTAGAGATGATCGTGGC
TGGTTTGTTACGCCTTTAGGTCCAAACCCATGGTGGACAGTAATAGCTGCTATAATTCCA
GCTCTGCTTTGTACTATTCTAATTTTTATGGACCAACAGATTACAGCTGTCATCATCAAC
AGGAAAGAGCATAAGCTAAAGAAAGGTTGTGGGTACCATCTGGACCTATTAATGGTGGCT
GTCATGCTCGGTGTATGCTCCATCATGGGCCTGCCATGGTTTGTGGCTGCCACAGTCCTC
TCCATCACTCATGTCAATAGCCTAAAACTGGAATCAGAATGCTCAGCTCCAGGAGAACAA
CCCAAATTTCTCGGCATTCGGGAGCAAAGGGTTACTGGGCTTATGATTTTTATTCTTATG
GGTTCATCAGTCTTTATGACCAGTATTCTGAAGTTTATTCCCATGCCAGTGCTATATGGA
GTGTTTCTTTATATGGGTGCTTCATCTCTAAAGGGAATTCAGTTCTTTGATAGGATAAAG
CTCTTCTGGATGCCGGCAAAACATCAACCAGATTTTATATACCTAAGGCACGTACCGCTT
CGAAAAGTGCATCTCTTCACAATTATTCAGATGAGTTGCCTTGGCCTTTTGTGGATAATA
AAAGTTTCAAGAGCTGCTATTGTCTTTCCCATGATGGTGTTAGCCCTGGTATTTGTAAGA
AAGTTGATGGACTTGTTGTTCACGAAGCGGGAACTCAGCTGGTTGGATGATTTGATGCCC
GAGAGTAAGAAAAAGAAACTGGAAGATGCTGAAAAAGAAGAAGAACAAAGTATGCTAGCT
ATGGAAGATGAGGGCACAGTACAACTCCCATTGGAAGGGCACTATAGAGATGATCCATCT
GTGATCAATATATCTGATGAAATGTCAAAGACTGCCTTGTGGAGGAACCTTCTGATTACT
GCCGATAACTCAAAAGATAAGGAGTCAAGCTTTCCTTCCAAAAGCTCCCCTTCCTAA
|
| Enzyme 93 GenBank Gene ID |
NM_001178015.1  |
| Enzyme 93 GeneCard ID |
SLC4A10  |
| Enzyme 93 GenAtlas ID |
Not Available |
| Enzyme 93 HGNC ID |
Not Available |
| Enzyme 93 Chromosome Location |
2 |
| Enzyme 93 Locus |
2q23-q24 |
| Enzyme 93 SNPs |
SNPJam Report  |
| Enzyme 93 General References |
- Wang CZ, Yano H, Nagashima K, Seino S: The Na+-driven Cl-/HCO3- exchanger. Cloning, tissue distribution, and functional characterization. J Biol Chem. 2000 Nov 10;275(45):35486-90. [PubMed
]
- Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK: Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434(7034):724-31. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Bechtel S, Rosenfelder H, Duda A, Schmidt CP, Ernst U, Wellenreuther R, Mehrle A, Schuster C, Bahr A, Blocker H, Heubner D, Hoerlein A, Michel G, Wedler H, Kohrer K, Ottenwalder B, Poustka A, Wiemann S, Schupp I: The full-ORF clone resource of the German cDNA Consortium. BMC Genomics. 2007 Oct 31;8:399. [PubMed
]
- Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. Epub 2008 Jul 31. [PubMed
]
|
| Enzyme 93 Metabolite References |
Not Available |
|
Enzyme 94
[top]
|
| Enzyme 94 ID |
8711 |
| Enzyme 94 Name |
Large neutral amino acids transporter small subunit 1 |
| Enzyme 94 Synonyms |
- 4F2 light chain
- 4F2 LC
- 4F2LC
- CD98 light chain
- Integral membrane protein E16
- L-type amino acid transporter 1
- hLAT1
- Solute carrier family 7 member 5
- y+ system cationic amino acid transporter
|
| Enzyme 94 Gene Name |
SLC7A5 |
| Enzyme 94 Protein Sequence |
>Large neutral amino acids transporter small subunit 1
MAGAGPKRRALAAPAAEEKEEAREKMLAAKSADGSAPAGEGEGVTLQRNITLLNGVAIIV
GTIIGSGIFVTPTGVLKEAGSPGLALVVWAACGVFSIVGALCYAELGTTISKSGGDYAYM
LEVYGSLPAFLKLWIELLIIRPSSQYIVALVFATYLLKPLFPTCPVPEEAAKLVACLCVL
LLTAVNCYSVKAATRVQDAFAAAKLLALALIILLGFVQIGKGDVSNLDPNFSFEGTKLDV
GNIVLALYSGLFAYGGWNYLNFVTEEMINPYRNLPLAIIISLPIVTLVYVLTNLAYFTTL
STEQMLSSEAVAVDFGNYHLGVMSWIIPVFVGLSCFGSVNGSLFTSSRLFFVGSREGHLP
SILSMIHPQLLTPVPSLVFTCVMTLLYAFSKDIFSVINFFSFFNWLCVALAIIGMIWLRH
RKPELERPIKVNLALPVFFILACLFLIAVSFWKTPVECGIGFTIILSGLPVYFFGVWWKN
KPKWLLQGIFSTTVLCQKLMQVVPQET
|
| Enzyme 94 Number of Residues |
507 |
| Enzyme 94 Molecular Weight |
55009.6 |
| Enzyme 94 Theoretical pI |
7.79 |
| Enzyme 94 GO Classification |
| Function |
- active transmembrane transporter activity
- amine transmembrane transporter activity
- amino acid transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- amine transport
- amino acid transport
- establishment of localization
- transmembrane transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 94 General Function |
Involved in transport |
| Enzyme 94 Specific Function |
Sodium-independent, high-affinity transport of large neutral amino acids such as phenylalanine, tyrosine, leucine, arginine and tryptophan, when associated with SLC3A2/4F2hc. Involved in cellular amino acid uptake. Acts as an amino acid exchanger. Involved in the transport of L-DOPA across the blood- brain barrier, and that of thyroid hormones triiodothyronine (T3) and thyroxine (T4) across the cell membrane in tissues such as placenta. Plays a role in neuronal cell proliferation (neurogenesis) in brain. Involved in the uptake of methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes, and hence plays a role in metal ion homeostasis and toxicity. Involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L- nitrosocysteine (L-CNSO) across the transmembrane. May play an important role in high-grade gliomas. Mediates blood-to-retina L- leucine transport across the inner blood-retinal barrier which in turn may play a key role in maintaining large neutral amino acids as well as neurotransmitters in the neural retina. Acts as the major transporter of tyrosine in fibroblasts |
| Enzyme 94 Pathways |
Not Available |
| Enzyme 94 Reactions |
Not Available |
| Enzyme 94 Pfam Domain Function |
|
| Enzyme 94 Signals |
|
| Enzyme 94 Transmembrane Regions |
- 50-70
84-104
120-140
146-166
170-190
199-219
243-263
274-294
319-339
396-416
431-451
458-478
|
| Enzyme 94 Essentiality |
Not Available |
| Enzyme 94 GenBank ID Protein |
4519803  |
| Enzyme 94 UniProtKB/Swiss-Prot ID |
Q01650  |
| Enzyme 94 UniProtKB/Swiss-Prot Entry Name |
LAT1_HUMAN  |
| Enzyme 94 PDB ID |
Not Available |
| Enzyme 94 Cellular Location |
Not Available |
| Enzyme 94 Gene Sequence |
>1524 bp
ATGGCGGGTGCGGGCCCGAAGCGGCGGGCGCTAGCGGCCCCGGTGGCCGAGGAGAAGGAA
GAGGCGCGGGAGAAGATGCTGGCCTCCAAGCGCGCGGACGGCGCGGCGCCGGCAGGCGAG
GGCGAGGGCGTGACCCTGCAGCGGAACATCACGCTACTCAACGGCGTGGCCATCATCGTG
GGCGCCATCATCGGCTCGGGCATCTTCGTGACGCCCACGGGCGTGCTTAAGGAGGCAGGC
TCGCCGGGGCTGGCGCTGGTGATGTGGGCCGCGTGCGGCGTCTTCTCCATCGTGGGCGCG
CTCTGCTACGCGGAGCTCGGCACCACCATCTCCAAATCGGGCGGCGACTACGCCTACATG
CTGGAGGTCTACGGCTCGCTGCCCGCCTTCCTCAAGCTCTGGATCGAGCTGCTCATCATC
CGGCCTTCATCGCAGTACATCGTGGCCCTGGTCTTCGCCGCCTACCTGCTCAAGCCGCTC
TTCCCCACCTGCCCGGTGCCCGAGGAGGCAGCCAAGCTCGTGGCCTGCCTCTGCGTGCTG
CTGCTCACGGCCGTGAACTGCTACAGCGTGAAGGCCGCCACCCGGGTCCAGGATGCCTTT
GCCGCCGCCAAGCTCCTGGCCCTGGCCCTGATCATCCTGCTGGGCTTCGTCCAGATCGGG
AAGGGTGATGTGTCCAATCTAGATCCCAACTTCTCATTTGAAGGCACCAAACTGGATGTG
GGGAACATTGTGCTGGCATTATACAGCGGCCTCTTTGCCTATGGAGGATGGAATTACTTG
AATTTCGTCACAGAGGAAATGATCAACCCCTACAGAAACCTGCCCCTGGCCATCATCATC
TCCCTGCCCATCGTGACGCTGGTGTACGTGCTGACCAACCTGGCCTACTTCACCACCCTG
TCCACCGAGCAGATGCTGTCGTCCGAGGCCGTGGCCGTGGACTTCGGGAACTATCACCTG
GGCGTCATGTCCTGGATCATCCCCGTCTTCGTGGGCCTGTCCTGCTTCGGCTCCGTCAAT
GGGTCCCTGTTCACATCCTCCAGGCTCTTCTTCGTGGGGTCCCGGGAAGGCCACCTGCCC
TCCATCCTCTCCATGATCCACCCACAGCTCCTCACCCCCGTGCCGTCCCTCGTGTTCACG
TGTGTGATGACGCTGCTCTACGCCTTCTCCAAGGACATCTTCTCCGTCATCAACTTCTTC
AGCTTCTTCAACTGGCTCTGCGTGGCCCTGGCCATCATCGGCATGATCTGGCTGCGCCAC
AGAAAGCCTGAGCTTGAGCGGCCCATCAAGGTGAACCTGGCCCTGCCTGTGTTCTTCATC
CTGGCCTGCCTCTTCCTGATCGCCGTCTCCTTCTGGAAGACACCCGTGGAGTGTGGCATC
GGCTTCACCATCATCCTCAGCGGGCTGCCCGTCTACTTCTTCGGGGTCTGGTGGAAAAAC
AAGCCCAAGTGGCTCCTCCAGGGCATCTTCTCCACGACCGTCCTGTGTCAGAAGCTCATG
CAGGTGGTCCCCCAGGAGACATAG
|
| Enzyme 94 GenBank Gene ID |
AB017908  |
| Enzyme 94 GeneCard ID |
SLC7A5  |
| Enzyme 94 GenAtlas ID |
SLC7A5  |
| Enzyme 94 HGNC ID |
HGNC:11063  |
| Enzyme 94 Chromosome Location |
1 |
| Enzyme 94 Locus |
16q24.3 |
| Enzyme 94 SNPs |
SNPJam Report  |
| Enzyme 94 General References |
- Mastroberardino L, Spindler B, Pfeiffer R, Skelly PJ, Loffing J, Shoemaker CB, Verrey F: Amino-acid transport by heterodimers of 4F2hc/CD98 and members of a permease family. Nature. 1998 Sep 17;395(6699):288-91. [PubMed
]
- Prasad PD, Wang H, Huang W, Kekuda R, Rajan DP, Leibach FH, Ganapathy V: Human LAT1, a subunit of system L amino acid transporter: molecular cloning and transport function. Biochem Biophys Res Commun. 1999 Feb 16;255(2):283-8. [PubMed
]
- Tsurudome M, Ito M, Takebayashi S, Okumura K, Nishio M, Kawano M, Kusagawa S, Komada H, Ito Y: Cutting edge: primary structure of the light chain of fusion regulatory protein-1/CD98/4F2 predicts a protein with multiple transmembrane domains that is almost identical to the amino acid transporter E16. J Immunol. 1999 Mar 1;162(5):2462-6. [PubMed
]
- Yanagida O, Kanai Y, Chairoungdua A, Kim DK, Segawa H, Nii T, Cha SH, Matsuo H, Fukushima J, Fukasawa Y, Tani Y, Taketani Y, Uchino H, Kim JY, Inatomi J, Okayasu I, Miyamoto K, Takeda E, Goya T, Endou H: Human L-type amino acid transporter 1 (LAT1): characterization of function and expression in tumor cell lines. Biochim Biophys Acta. 2001 Oct 1;1514(2):291-302. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Gaugitsch HW, Prieschl EE, Kalthoff F, Huber NE, Baumruker T: A novel transiently expressed, integral membrane protein linked to cell activation. Molecular cloning via the rapid degradation signal AUUUA. J Biol Chem. 1992 Jun 5;267(16):11267-73. [PubMed
]
- Pineda M, Fernandez E, Torrents D, Estevez R, Lopez C, Camps M, Lloberas J, Zorzano A, Palacin M: Identification of a membrane protein, LAT-2, that Co-expresses with 4F2 heavy chain, an L-type amino acid transport activity with broad specificity for small and large zwitterionic amino acids. J Biol Chem. 1999 Jul 9;274(28):19738-44. [PubMed
]
- Rossier G, Meier C, Bauch C, Summa V, Sordat B, Verrey F, Kuhn LC: LAT2, a new basolateral 4F2hc/CD98-associated amino acid transporter of kidney and intestine. J Biol Chem. 1999 Dec 3;274(49):34948-54. [PubMed
]
- Broer A, Friedrich B, Wagner CA, Fillon S, Ganapathy V, Lang F, Broer S: Association of 4F2hc with light chains LAT1, LAT2 or y+LAT2 requires different domains. Biochem J. 2001 May 1;355(Pt 3):725-31. [PubMed
]
- Ritchie JW, Taylor PM: Role of the System L permease LAT1 in amino acid and iodothyronine transport in placenta. Biochem J. 2001 Jun 15;356(Pt 3):719-25. [PubMed
]
- Friesema EC, Docter R, Moerings EP, Verrey F, Krenning EP, Hennemann G, Visser TJ: Thyroid hormone transport by the heterodimeric human system L amino acid transporter. Endocrinology. 2001 Oct;142(10):4339-48. [PubMed
]
- Okamoto Y, Sakata M, Ogura K, Yamamoto T, Yamaguchi M, Tasaka K, Kurachi H, Tsurudome M, Murata Y: Expression and regulation of 4F2hc and hLAT1 in human trophoblasts. Am J Physiol Cell Physiol. 2002 Jan;282(1):C196-204. [PubMed
]
- Simmons-Willis TA, Koh AS, Clarkson TW, Ballatori N: Transport of a neurotoxicant by molecular mimicry: the methylmercury-L-cysteine complex is a substrate for human L-type large neutral amino acid transporter (LAT) 1 and LAT2. Biochem J. 2002 Oct 1;367(Pt 1):239-46. [PubMed
]
- Kim DK, Kanai Y, Choi HW, Tangtrongsup S, Chairoungdua A, Babu E, Tachampa K, Anzai N, Iribe Y, Endou H: Characterization of the system L amino acid transporter in T24 human bladder carcinoma cells. Biochim Biophys Acta. 2002 Sep 20;1565(1):112-21. [PubMed
]
- Jain-Vakkalagadda B, Dey S, Pal D, Mitra AK: Identification and functional characterization of a Na+-independent large neutral amino acid transporter, LAT1, in human and rabbit cornea. Invest Ophthalmol Vis Sci. 2003 Jul;44(7):2919-27. [PubMed
]
- Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP: Large-scale characterization of HeLa cell nuclear phosphoproteins. Proc Natl Acad Sci U S A. 2004 Aug 17;101(33):12130-5. Epub 2004 Aug 9. [PubMed
]
- Fraga S, Pinho MJ, Soares-da-Silva P: Expression of LAT1 and LAT2 amino acid transporters in human and rat intestinal epithelial cells. Amino Acids. 2005 Nov;29(3):229-33. Epub 2005 Jul 20. [PubMed
]
- Li S, Whorton AR: Identification of stereoselective transporters for S-nitroso-L-cysteine: role of LAT1 and LAT2 in biological activity of S-nitrosothiols. J Biol Chem. 2005 May 20;280(20):20102-10. Epub 2005 Mar 15. [PubMed
]
- Gevaert K, Staes A, Van Damme J, De Groot S, Hugelier K, Demol H, Martens L, Goethals M, Vandekerckhove J: Global phosphoproteome analysis on human HepG2 hepatocytes using reversed-phase diagonal LC. Proteomics. 2005 Sep;5(14):3589-99. [PubMed
]
- Nawashiro H, Otani N, Shinomiya N, Fukui S, Ooigawa H, Shima K, Matsuo H, Kanai Y, Endou H: L-type amino acid transporter 1 as a potential molecular target in human astrocytic tumors. Int J Cancer. 2006 Aug 1;119(3):484-92. [PubMed
]
- Meierhofer D, Wang X, Huang L, Kaiser P: Quantitative analysis of global ubiquitination in HeLa cells by mass spectrometry. J Proteome Res. 2008 Oct;7(10):4566-76. Epub 2008 Sep 10. [PubMed
]
- Vumma R, Wiesel FA, Flyckt L, Bjerkenstedt L, Venizelos N: Functional characterization of tyrosine transport in fibroblast cells from healthy controls. Neurosci Lett. 2008 Mar 21;434(1):56-60. Epub 2008 Jan 17. [PubMed
]
- Oppermann FS, Gnad F, Olsen JV, Hornberger R, Greff Z, Keri G, Mann M, Daub H: Large-scale proteomics analysis of the human kinome. Mol Cell Proteomics. 2009 Jul;8(7):1751-64. Epub 2009 Apr 15. [PubMed
]
|
| Enzyme 94 Metabolite References |
Not Available |
|
Enzyme 95
[top]
|
| Enzyme 95 ID |
8726 |
| Enzyme 95 Name |
Sodium/calcium exchanger 3 |
| Enzyme 95 Synonyms |
- Na(+)/Ca(2+)-exchange protein 3
|
| Enzyme 95 Gene Name |
SLC8A3 |
| Enzyme 95 Protein Sequence |
>Sodium/calcium exchanger 3
MAWLRLQPLTSAFLHFGLVTFVLFLNGLRAEAGGSGDVPSTGQNNESCSGSSDCKEGVIL
PIWYPENPSLGDKIARVIVYFVALIYMFLGVSIIADRFMASIEVITSQEREVTIKKPNGE
TSTTTIRVWNETVSNLTLMALGSSAPEILLSLIEVCGHGFIAGDLGPSTIVGSAAFNMFI
IIGICVYVIPDGETRKIKHLRVFFITAAWSIFAYIWLYMILAVFSPGVVQVWEGLLTLFF
FPVCVLLAWVADKRLLFYKYMHKKYRTDKHRGIIIETEGDHPKGIEMDGKMMNSHFLDGN
LVPLEGKEVDESRREMIRILKDLKQKHPEKDLDQLVEMANYYALSHQQKSRAFYRIQATR
MMTGAGNILKKHAAEQAKKASSMSEVHTDEPEDFISKVFFDPCSYQCLENCGAVLLTVVR
KGGDMSKTMYVDYKTEDGSANAGADYEFTEGTVVLKPGETQKEFSVGIIDDDIFEEDEHF
FVRLSNVRIEEEQPEEGMPPAIFNSLPLPRAVLASPCVATVTILDDDHAGIFTFECDTIH
VSESIGVMEVKVLRTSGARGTVIVPFRTVEGTAKGGGEDFEDTYGELEFKNDETVKTIRV
KIVDEEEYERQENFFIALGEPKWMERGISALLLSPDVTDRKLTMEEEEAKRIAEMGKPVL
GEHPKLEVIIEESYEFKTTVDKLIKKTNLALVVGTHSWRDQFMEAITVSAAGDEDEDESG
EERLPSCFDYVMHFLTVFWKVLFACVPPTEYCHGWACFAVSILIIGMLTAIIGDLASHFG
CTIGLKDSVTAVVFVAFGTSVPDTFASKAAALQDVYADASIGNVTGSNAVNVFLGIGLAW
SVAAIYWALQGQEFHVSAGTLAFSVTLFTIFAFVCISVLLYRRRPHLGGELGGPRGCKLA
TTWLFVSLWLLYILFATLEAYCYIKGF
|
| Enzyme 95 Number of Residues |
927 |
| Enzyme 95 Molecular Weight |
103008.6 |
| Enzyme 95 Theoretical pI |
4.76 |
| Enzyme 95 GO Classification |
| Function |
- calcium:cation antiporter activity
- calcium:sodium antiporter activity
- cation transmembrane transporter activity
- cation:cation antiporter activity
- ion transmembrane transporter activity
- solute:cation antiporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- calcium ion transport
- cation transport
- cell communication
- cellular process
- di-, tri-valent inorganic cation transport
- divalent metal ion transport
- establishment of localization
- ion transport
- transmembrane transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 95 General Function |
Involved in cell communication |
| Enzyme 95 Specific Function |
Rapidly transports Ca(2+) during excitation-contraction coupling. Ca(2+) is extruded from the cell during relaxation so as to prevent overloading of intracellular stores |
| Enzyme 95 Pathways |
Not Available |
| Enzyme 95 Reactions |
Not Available |
| Enzyme 95 Pfam Domain Function |
|
| Enzyme 95 Signals |
|
| Enzyme 95 Transmembrane Regions |
- 74-94
148-168
170-190
203-223
231-251
727-747
755-775
779-799
829-849
861-881
904-924
|
| Enzyme 95 Essentiality |
Not Available |
| Enzyme 95 GenBank ID Protein |
22087483  |
| Enzyme 95 UniProtKB/Swiss-Prot ID |
P57103  |
| Enzyme 95 UniProtKB/Swiss-Prot Entry Name |
NAC3_HUMAN  |
| Enzyme 95 PDB ID |
Not Available |
| Enzyme 95 Cellular Location |
Not Available |
| Enzyme 95 Gene Sequence |
>2784 bp
ATGGCGTGGTTAAGGTTGCAGCCTCTCACCTCTGCCTTCCTCCATTTTGGGCTGGTTACC
TTTGTGCTCTTCCTGAATGGTCTTCGAGCAGAGGCTGGTGGCTCAGGGGACGTGCCAAGC
ACAGGGCAGAACAATGAGTCCTGTTCAGGGTCATCGGACTGCAAGGAGGGTGTCATCCTG
CCAATCTGGTACCCGGAGAACCCTTCCCTTGGGGACAAGATTGCCAGGGTCATTGTCTAT
TTTGTGGCCCTGATATACATGTTCCTTGGGGTGTCCATCATTGCTGACCGCTTCATGGCA
TCTATTGAAGTCATCACCTCTCAAGAGAGGGAGGTGACAATTAAGAAACCCAATGGAGAA
ACCAGCACAACCACTATTCGGGTCTGGAATGAAACTGTCTCCAACCTGACCCTTATGGCC
CTGGGTTCCTCTGCTCCTGAGATACTCCTCTCTTTAATTGAGGTGTGTGGTCATGGGTTC
ATTGCTGGTGATCTGGGACCTTCTACCATTGTAGGGAGTGCAGCCTTCAACATGTTCATC
ATCATTGGCATCTGTGTCTACGTGATCCCAGACGGAGAGACTCGCAAGATCAAGCATCTA
CGAGTCTTCTTCATCACCGCTGCTTGGAGTATCTTTGCCTACATCTGGCTCTATATGATT
CTGGCAGTCTTCTCCCCTGGTGTGGTCCAGGTTTGGGAAGGCCTCCTCACTCTCTTCTTC
TTTCCAGTGTGTGTCCTTCTGGCCTGGGTGGCAGATAAACGACTGCTCTTCTACAAATAC
ATGCACAAAAAGTACCGCACAGACAAACACCGAGGAATTATCATAGAGACAGAGGGTGAC
CACCCTAAGGGCATTGAGATGGATGGGAAAATGATGAATTCCCATTTTCTAGATGGGAAC
CTGGTGCCCCTGGAAGGGAAGGAAGTGGATGAGTCCCGCAGAGAGATGATCCGGATTCTC
AAGGATCTGAAGCAAAAACACCCAGAGAAGGACTTAGATCAGCTGGTGGAGATGGCCAAT
TACTATGCTCTTTCCCACCAACAGAAGAGCCGTGCCTTCTACCGTATCCAAGCCACTCGT
ATGATGACTGGTGCAGGCAATATCCTGAAGAAACATGCAGCAGAACAAGCCAAGAAGGCC
TCCAGCATGAGCGAGGTGCACACCGATGAGCCTGAGGACTTTATTTCCAAGGTCTTCTTT
GACCCATGTTCTTACCAGTGCCTGGAGAACTGTGGGGCTGTACTCCTGACAGTGGTGAGG
AAAGGGGGAGACATGTCAAAGACCATGTATGTGGACTACAAAACAGAGGATGGTTCTGCC
AATGCAGGGGCTGACTATGAGTTCACAGAGGGCACGGTGGTTCTGAAGCCAGGAGAGACC
CAGAAGGAGTTCTCCGTGGGCATAATTGATGACGACATTTTTGAGGAGGATGAACACTTC
TTTGTAAGGTTGAGCAATGTCCGCATAGAGGAGGAGCAGCCAGAGGAGGGGATGCCTCCA
GCAATATTCAACAGTCTTCCCTTGCCTCGGGCTGTCCTAGCCTCCCCTTGTGTGGCCACA
GTTACCATCTTGGATGATGACCATGCAGGCATCTTCACTTTTGAATGTGATACTATTCAT
GTCAGTGAGAGTATTGGTGTTATGGAGGTCAAGGTTCTGCGGACATCAGGTGCCCGGGGT
ACAGTCATCGTCCCCTTTAGGACAGTAGAAGGGACAGCCAAGGGTGGCGGTGAGGACTTT
GAAGACACATATGGGGAGTTGGAATTCAAGAATGATGAAACTGTGAAAACCATAAGGGTT
AAAATAGTAGATGAGGAGGAATACGAAAGGCAAGAGAATTTCTTCATTGCCCTTGGTGAA
CCGAAATGGATGGAACGTGGAATATCAGCGCTCCTGTTATCTCCAGATGTGACAGACAGG
AAGCTGACTATGGAAGAAGAGGAGGCCAAGAGGATAGCAGAGATGGGAAAGCCAGTATTG
GGTGAACACCCCAAACTAGAAGTCATCATTGAAGAGTCCTATGAGTTCAAGACTACGGTG
GACAAACTGATCAAGAAGACAAACCTGGCCTTGGTTGTGGGGACCCATTCCTGGAGGGAC
CAGTTCATGGAGGCCATCACCGTCAGTGCAGCAGGGGATGAGGATGAGGATGAATCCGGG
GAGGAGAGGCTGCCCTCCTGCTTTGACTACGTCATGCACTTCCTGACTGTCTTCTGGAAG
GTGCTGTTTGCCTGTGTGCCCCCCACAGAGTACTGCCACGGCTGGGCCTGCTTCGCCGTC
TCCATCCTCATCATTGGCATGCTCACCGCCATCATTGGGGACCTGGCCTCGCACTTCGGC
TGCACCATTGGTCTCAAAGATTCAGTCACAGCTGTTGTTTTCGTGGCATTTGGCACCTCT
GTCCCAGATACGTTTGCCAGCAAAGCTGCTGCCCTCCAGGATGTATATGCAGACGCCTCC
ATTGGCAACGTGACGGGCAGCAACGCCGTCAATGTCTTCCTGGGCATCGGCCTGGCCTGG
TCCGTGGCCGCCATCTACTGGGCTCTGCAGGGACAGGAGTTCCACGTGTCGGCCGGCACA
CTGGCCTTCTCCGTCACCCTCTTCACCATCTTTGCATTTGTCTGCATCAGCGTGCTCTTG
TACCGAAGGCGGCCGCACCTGGGAGGGGAGCTTGGTGGCCCCCGTGGCTGCAAGCTCGCC
ACAACATGGCTCTTTGTGAGCCTGTGGCTCCTCTACATACTCTTTGCCACACTAGAGGCC
TATTGCTACATCAAGGGGTTCTAA
|
| Enzyme 95 GenBank Gene ID |
AF508982  |
| Enzyme 95 GeneCard ID |
SLC8A3  |
| Enzyme 95 GenAtlas ID |
SLC8A3  |
| Enzyme 95 HGNC ID |
HGNC:11070  |
| Enzyme 95 Chromosome Location |
1 |
| Enzyme 95 Locus |
14q24.1 |
| Enzyme 95 SNPs |
SNPJam Report  |
| Enzyme 95 General References |
- Gabellini N, Bortoluzzi S, Danieli GA, Carafoli E: The human SLC8A3 gene and the tissue-specific Na+/Ca2+ exchanger 3 isoforms. Gene. 2002 Sep 18;298(1):1-7. [PubMed
]
- Gabellini N, Bortoluzzi S, Danieli GA, Carafoli E: Control of the Na+/Ca2+ exchanger 3 promoter by cyclic adenosine monophosphate and Ca2+ in differentiating neurons. J Neurochem. 2003 Jan;84(2):282-93. [PubMed
]
- Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE: The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314(5797):268-74. Epub 2006 Sep 7. [PubMed
]
|
| Enzyme 95 Metabolite References |
Not Available |
|
Enzyme 96
[top]
|
| Enzyme 96 ID |
8729 |
| Enzyme 96 Name |
Sodium/calcium exchanger 2 |
| Enzyme 96 Synonyms |
- Na(+)/Ca(2+)-exchange protein 2
|
| Enzyme 96 Gene Name |
SLC8A2 |
| Enzyme 96 Protein Sequence |
>Sodium/calcium exchanger 2
MAPLALVGVTLLLAAPPCSGAATPTPSLPPPPANDSDTSTGGCQGSYRCQPGVLLPVWEP
DDPSLGDKAARAVVYFVAMVYMFLGVSIIADRFMAAIEVITSKEKEITITKANGETSVGT
VRIWNETVSNLTLMALGSSAPEILLSVIEVCGHNFQAGELGPGTIVGSAAFNMFVVIAVC
IYVIPAGESRKIKHLRVFFVTASWSIFAYVWLYLILAVFSPGVVQVWEALLTLVFFPVCV
VFAWMADKRLLFYKYVYKRYRTDPRSGIIIGAEGDPPKSIELDGTFVGAEAPGELGGLGP
GPAEARELDASRREVIQILKDLKQKHPDKDLEQLVGIANYYALLHQQKSRAFYRIQATRL
MTGAGNVLRRHAADASRRAAPAEGAGEDEDDGASRIFFEPSLYHCLENCGSVLLSVTCQG
GEGNSTFYVDYRTEDGSAKAGSDYEYSEGTLVFKPGETQKELRIGIIDDDIFEEDEHFFV
RLLNLRVGDAQGMFEPDGGGRPKGRLVAPLLATVTILDDDHAGIFSFQDRLLHVSECMGT
VDVRVVRSSGARGTVRLPYRTVDGTARGGGVHYEDACGELEFGDDETMKTLQVKIVDDEE
YEKKDNFFIELGQPQWLKRGISALLLNQGDGDRKLTAEEEEARRIAEMGKPVLGENCRLE
VIIEESYDFKNTVDKLIKKTNLALVIGTHSWREQFLEAITVSAGDEEEEEDGSREERLPS
CFDYVMHFLTVFWKVLFACVPPTEYCHGWACFGVSILVIGLLTALIGDLASHFGCTVGLK
DSVNAVVFVALGTSIPDTFASKVAALQDQCADASIGNVTGSNAVNVFLGLGVAWSVAAVY
WAVQGRPFEVRTGTLAFSVTLFTVFAFVGIAVLLYRRRPHIGGELGGPRGPKLATTALFL
GLWLLYILFASLEAYCHIRGF
|
| Enzyme 96 Number of Residues |
921 |
| Enzyme 96 Molecular Weight |
100366.9 |
| Enzyme 96 Theoretical pI |
4.78 |
| Enzyme 96 GO Classification |
| Function |
- calcium:cation antiporter activity
- calcium:sodium antiporter activity
- cation transmembrane transporter activity
- cation:cation antiporter activity
- ion transmembrane transporter activity
- solute:cation antiporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- calcium ion transport
- cation transport
- cell communication
- cellular process
- di-, tri-valent inorganic cation transport
- divalent metal ion transport
- establishment of localization
- ion transport
- transmembrane transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 96 General Function |
Involved in cell communication |
| Enzyme 96 Specific Function |
Rapidly transports Ca(2+) during excitation-contraction coupling. Ca(2+) is extruded from the cell during relaxation so as to prevent overloading of intracellular stores |
| Enzyme 96 Pathways |
Not Available |
| Enzyme 96 Reactions |
Not Available |
| Enzyme 96 Pfam Domain Function |
|
| Enzyme 96 Signals |
|
| Enzyme 96 Transmembrane Regions |
- 69-90
131-152
165-185
197-219
223-246
721-740
748-770
773-791
823-843
855-875
893-909
|
| Enzyme 96 Essentiality |
Not Available |
| Enzyme 96 GenBank ID Protein |
57163987  |
| Enzyme 96 UniProtKB/Swiss-Prot ID |
Q9UPR5  |
| Enzyme 96 UniProtKB/Swiss-Prot Entry Name |
NAC2_HUMAN  |
| Enzyme 96 PDB ID |
Not Available |
| Enzyme 96 Cellular Location |
Not Available |
| Enzyme 96 Gene Sequence |
>2766 bp
ATGGCTCCCCTGGCCTTGGTGGGGGTCACACTCCTCCTGGCGGCTCCCCCATGCTCCGGG
GCAGCCACCCCAACCCCCTCCCTGCCGCCTCCCCCGGCCAATGACAGCGACACCAGCACA
GGGGGCTGCCAGGGGTCCTACCGCTGCCAGCCGGGGGTGCTGCTGCCCGTGTGGGAGCCC
GACGACCCGTCGCTGGGTGACAAGGCGGCACGGGCAGTGGTGTACTTTGTGGCCATGGTC
TACATGTTTCTGGGAGTGTCCATCATCGCCGACCGTTTCATGGCGGCCATCGAGGTCATC
ACGTCAAAAGAGAAGGAGATCACCATCACCAAGGCCAACGGTGAGACCAGCGTGGGCACC
GTTCGCATCTGGAATGAGACGGTGTCCAACCTCACGCTCATGGCCCTGGGCTCCTCCGCA
CCTGAGATCCTGCTGTCAGTCATCGAAGTCTGCGGCCACAACTTCCAGGCGGGTGAGCTG
GGCCCAGGCACCATCGTGGGCAGCGCTGCCTTCAACATGTTTGTGGTCATCGCCGTGTGC
ATCTACGTCATCCCAGCCGGCGAGAGCCGCAAGATCAAGCACCTGAGAGTCTTCTTTGTC
ACTGCCTCTTGGAGCATCTTCGCCTATGTCTGGCTTTATCTCATCCTTGCTGTTTTTTCC
CCCGGTGTGGTCCAGGTGTGGGAGGCGCTGCTGACCCTGGTCTTCTTCCCGGTGTGCGTG
GTATTCGCCTGGATGGCCGACAAGCGGCTGCTCTTCTACAAGTACGTGTACAAGCGCTAC
CGCACCGACCCACGCAGCGGCATCATCATAGGCGCCGAGGGCGACCCCCCGAAGAGCATC
GAGCTGGACGGCACGTTCGTGGGCGCCGAGGCCCCAGGTGAGCTGGGCGGCCTGGGCCCG
GGCCCCGCCGAGGCGCGCGAGCTGGACGCCAGCCGCCGCGAGGTCATCCAGATCCTCAAG
GACCTCAAGCAGAAGCACCCGGACAAGGATCTGGAGCAGCTGGTGGGCATCGCCAACTAC
TACGCGCTGCTGCACCAGCAGAAGAGCCGCGCCTTCTACCGCATCCAGGCCACGCGGCTG
ATGACCGGCGCCGGGAACGTGCTGCGCAGACACGCGGCGGACGCCTCGCGCAGGGCGGCG
CCGGCCGAGGGCGCGGGCGAGGACGAAGACGACGGCGCCAGCCGCATCTTCTTCGAGCCT
AGCCTCTACCACTGCCTGGAGAACTGCGGCTCCGTGCTGCTGTCCGTCACGTGCCAGGGC
GGCGAGGGCAACAGCACCTTCTACGTGGACTACCGCACTGAGGACGGCTCTGCCAAGGCG
GGCTCCGACTACGAGTACAGCGAGGGCACGCTGGTGTTCAAACCAGGCGAGACGCAGAAG
GAGCTGCGCATCGGCATCATCGACGACGACATCTTCGAGGAGGACGAGCATTTCTTCGTG
CGGCTGCTGAACCTGCGCGTGGGCGACGCGCAGGGCATGTTCGAGCCGGACGGCGGCGGG
CGGCCCAAGGGGCGGCTGGTGGCGCCGCTGCTGGCCACCGTCACCATCCTGGACGACGAC
CACGCAGGCATCTTCTCCTTCCAGGACCGCCTGCTGCACGTGAGCGAGTGCATGGGCACC
GTGGACGTGCGCGTCGTGCGCAGCTCGGGCGCGCGCGGCACCGTGCGCCTTCCCTACCGC
ACGGTGGACGGCACGGCGCGCGGCGGCGGCGTGCACTACGAGGACGCGTGCGGAGAGCTG
GAGTTTGGCGACGACGAGACCATGAAAACTCTTCAGGTGAAGATAGTTGATGACGAGGAA
TATGAGAAAAAGGATAATTTCTTCATTGAGCTGGGCCAGCCCCAGTGGCTTAAGCGAGGG
ATTTCAGCTCTGCTACTCAATCAAGGGGATGGGGACAGGAAGCTAACAGCCGAGGAGGAG
GAGGCTCGGAGGATAGCAGAGATGGGCAAGCCAGTTCTTGGGGAGAACTGCCGGCTGGAG
GTCATCATCGAGGAGTCATATGATTTTAAGAACACGGTGGATAAACTCATCAAGAAAACG
AACTTGGCCTTGGTAATTGGGACCCATTCATGGAGGGAGCAGTTTTTAGAGGCAATTACG
GTGAGCGCAGGGGACGAGGAGGAGGAGGAGGACGGGTCCCGGGAGGAGCGGCTGCCGTCG
TGCTTTGACTACGTGATGCACTTCCTGACGGTGTTCTGGAAGGTGCTCTTCGCCTGTGTG
CCCCCCACCGAGTACTGCCACGGCTGGGCCTGCTTTGGTGTCTCCATCCTGGTCATCGGC
CTGCTCACCGCCCTCATTGGGGACCTCGCCTCCCACTTCGGCTGCACCGTTGGCCTCAAG
GACTCTGTCAATGCTGTTGTCTTCGTTGCCCTGGGCACCTCCATCCCTGACACGTTCGCC
AGCAAGGTGGCGGCGCTGCAGGACCAGTGCGCCGACGCGTCCATCGGCAACGTGACCGGC
TCCAACGCGGTGAACGTGTTCCTTGGCCTGGGCGTCGCCTGGTCTGTGGCCGCCGTGTAC
TGGGCGGTGCAGGGCCGCCCCTTCGAGGTGCGCACTGGCACGCTGGCCTTCTCCGTCACG
CTCTTCACCGTCTTCGCCTTCGTGGGCATTGCCGTGCTGCTGTACCGGCGCCGGCCGCAC
ATCGGCGGCGAGCTGGGCGGCCCGCGCGGACCCAAGCTCGCCACCACCGCGCTCTTCCTG
GGCCTCTGGCTCCTGTACATCCTCTTCGCCAGCCTGGAGGCGTACTGCCACATCCGGGGC
TTCTAG
|
| Enzyme 96 GenBank Gene ID |
NM_015063.2  |
| Enzyme 96 GeneCard ID |
SLC8A2  |
| Enzyme 96 GenAtlas ID |
SLC8A2  |
| Enzyme 96 HGNC ID |
HGNC:11069  |
| Enzyme 96 Chromosome Location |
1 |
| Enzyme 96 Locus |
19q13.3 |
| Enzyme 96 SNPs |
SNPJam Report  |
| Enzyme 96 General References |
- Kikuno R, Nagase T, Ishikawa K, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O: Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 1999 Jun 30;6(3):197-205. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
|
| Enzyme 96 Metabolite References |
Not Available |
|
Enzyme 97
[top]
|
| Enzyme 97 ID |
8762 |
| Enzyme 97 Name |
Excitatory amino acid transporter 5 |
| Enzyme 97 Synonyms |
- Retinal glutamate transporter
- Solute carrier family 1 member 7
|
| Enzyme 97 Gene Name |
SLC1A7 |
| Enzyme 97 Protein Sequence |
>Excitatory amino acid transporter 5
MVPHAILARGRDVCRRNGLLILSVLSVIVGCLLGFFLRTRRLSPQEISYFQFPGELLMRM
LKMMILPLVVSSLMSGLASLDAKTSSRLGVLTVAYYLWTTFMAVIVGIFMVSIIHPGSAA
QKETTEQSGKPIMSSADALLDLIRNMFPANLVEATFKQYRTKTTPVVKSPKVAPEEAPPR
RILIYGVQEENGSHVQNFALDLTPPPEVVYKSEPGTSDGMNVLGIVFFSATMGIMLGRMG
DSGAPLVSFCQCLNESVMKIVAVAVWYFPFGIVFLIAGKILEMDDPRAVGKKLGFYSVTV
VCGLVLHGLFILPLLYFFITKKNPIVFIRGILQALLIALATSSSSATLPITFKCLLENNH
IDRRIARFVLPVGATINMDGTALYEAVAAIFIAQVNNYELDFGQIITISITATAASIGAA
GIPQAGLVTMVIVLTSVGLPTDDITLIIAVDWALDRFRTMINVLGDALAAGIMAHICRKD
FARDTGTEKLLPCETKPVSLQEIVAAQQNGCVKSVAEASELTLGPTCPHHVPVQVEQDEE
LPAASLNHCTIQISELETNV
|
| Enzyme 97 Number of Residues |
560 |
| Enzyme 97 Molecular Weight |
60657.8 |
| Enzyme 97 Theoretical pI |
6.77 |
| Enzyme 97 GO Classification |
| Function |
- carboxylic acid transmembrane transporter activity
- dicarboxylic acid transmembrane transporter activity
- organic acid transmembrane transporter activity
- sodium:dicarboxylate symporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- carboxylic acid transport
- dicarboxylic acid transport
- establishment of localization
- organic acid transport
- transport
|
| Component |
|
|
| Enzyme 97 General Function |
Involved in sodium:dicarboxylate symporter activity |
| Enzyme 97 Specific Function |
Transports L-glutamate; the L-glutamate uptake is sodium- and voltage-dependent and chloride-independent. Its associated chloride conductance may participate in visual processing |
| Enzyme 97 Pathways |
Not Available |
| Enzyme 97 Reactions |
Not Available |
| Enzyme 97 Pfam Domain Function |
|
| Enzyme 97 Signals |
|
| Enzyme 97 Transmembrane Regions |
- 17-37
60-80
94-114
217-237
260-280
300-320
330-350
372-392
414-434
457-477
|
| Enzyme 97 Essentiality |
Not Available |
| Enzyme 97 GenBank ID Protein |
55665402  |
| Enzyme 97 UniProtKB/Swiss-Prot ID |
O00341  |
| Enzyme 97 UniProtKB/Swiss-Prot Entry Name |
EAA5_HUMAN  |
| Enzyme 97 PDB ID |
Not Available |
| Enzyme 97 Cellular Location |
Not Available |
| Enzyme 97 Gene Sequence |
>1683 bp
ATGGTGCCGCATGCCATCTTGGCACGGGGGAGGGACGTGTGCAGGCGGAATGGACTCCTC
ATCCTGTCTGTGCTGTCTGTCATCGTGGGCTGCCTCCTCGGCTTCTTCTTGAGGACCCGG
CGCCTCTCACCACAGGAAATTAGTTACTTCCAGTTCCCTGGAGAGCTCCTGATGAGGATG
CTGAAGATGATGATCCTGCCACTGGTGGTCTCCAGCTTGATGTCCGGACTTGCCTCCCTG
GATGCCAAGACCTCTAGCCGCCTGGGCGTCCTCACCGTGGCGTACTACCTGTGGACCACC
TTCATGGCTGTCATCGTGGGCATCTTCATGGTCTCCATCATCCACCCAGGCAGCGCGGCC
CAGAAGGAGACCACGGAGCAGAGTGGGAAGCCCATCATGAGCTCAGCCGATGCCCTGTTG
GACCTCATCCGGAACATGTTCCCAGCCAACCTAGTAGAAGCCACATTCAAACAGTACCGC
ACCAAGACCACCCCAGTTGTCAAGTCCCCCAAGGTGGCACCAGAGGAGGCCCCTCCTCGG
CGGATCCTCATCTACGGGGTCCAGGAGGAGAATGGCTCCCATGTGCAGAACTTCGCCCTG
GACCTGACCCCGCCGCCCGAGGTCGTTTACAAGTCAGAGCCGGGCACCAGCGATGGCATG
AATGTGCTGGGCATCGTCTTCTTCTCTGCCACCATGGGCATCATGCTGGGCCGCATGGGT
GACAGCGGGGCCCCCCTGGTCAGCTTCTGCCAGTGCCTCAATGAGTCGGTCATGAAGATC
GTGGCGGTGGCTGTGTGGTATTTCCCCTTCGGCATTGTGTTCCTCATTGCGGGTAAGATC
CTGGAGATGGACGACCCCAGGGCCGTCGGCAAGAAGCTGGGCTTCTACTCAGTCACCGTG
GTGTGCGGGCTGGTGCTCCACGGGCTCTTTATCCTGCCCCTGCTCTACTTCTTCATCACC
AAGAAGAATCCCATCGTCTTCATCCGTGGCATCCTGCAGGCTCTGCTCATCGCGCTGGCC
ACCTCCTCCAGCTCAGCCACACTGCCCATCACCTTCAAGTGCCTGCTGGAGAACAACCAC
ATCGACCGGCGCATCGCTCGCTTCGTGCTGCCCGTGGGTGCCACCATCAACATGGACGGC
ACTGCGCTCTACGAGGCTGTGGCCGCCATCTTCATCGCCCAGGTCAACAACTACGAGCTG
GACTTTGGCCAGATCATCACCATCAGTATCACAGCCACTGCAGCCAGCATTGGGGCAGCT
GGCATCCCCCAGGCCGGCCTCGTCACCATGGTCATCGTGCTCACCTCCGTGGGACTGCCC
ACCGATGACATCACCCTCATCATTGCCGTTGACTGGGCTCTGGACCGTTTCCGCACCATG
ATTAACGTGCTGGGTGATGCGCTGGCAGCGGGGATCATGGCCCATATATGTCGGAAGGAT
TTTGCCCGGGACACAGGCACCGAGAAACTGCTGCCCTGCGAGACCAAGCCAGTGAGCCTC
CAGGAGATCGTGGCAGCCCAGCAGAATGGCTGTGTGAAGAGTGTAGCCGAGGCCTCCGAG
CTCACCCTGGGCCCCACCTGCCCCCACCACGTCCCCGTTCAAGTGGAGCAGGATGAGGAG
CTGCCCGCTGCGAGTCTGAACCACTGCACCATCCAGATCAGTGAGCTGGAGACCAATGTC
TGA
|
| Enzyme 97 GenBank Gene ID |
AL445183  |
| Enzyme 97 GeneCard ID |
SLC1A7  |
| Enzyme 97 GenAtlas ID |
SLC1A7  |
| Enzyme 97 HGNC ID |
HGNC:10945  |
| Enzyme 97 Chromosome Location |
1 |
| Enzyme 97 Locus |
1p32.3 |
| Enzyme 97 SNPs |
SNPJam Report  |
| Enzyme 97 General References |
- Arriza JL, Eliasof S, Kavanaugh MP, Amara SG: Excitatory amino acid transporter 5, a retinal glutamate transporter coupled to a chloride conductance. Proc Natl Acad Sci U S A. 1997 Apr 15;94(8):4155-60. [PubMed
]
- Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C, Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K, Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C, Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G, Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V, Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M, Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J, French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM, Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD, Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S, Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S, Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K, Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G, Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL, Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z, Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R, Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S, Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD, Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF, Pandian RD, Porter KM, Prigmore E: The DNA sequence and biological annotation of human chromosome 1. Nature. 2006 May 18;441(7091):315-21. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE: The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314(5797):268-74. Epub 2006 Sep 7. [PubMed
]
|
| Enzyme 97 Metabolite References |
Not Available |
|
Enzyme 98
[top]
|
| Enzyme 98 ID |
8769 |
| Enzyme 98 Name |
Sodium- and chloride-dependent glycine transporter 2 |
| Enzyme 98 Synonyms |
- GlyT-2
- GlyT2
- Solute carrier family 6 member 5
|
| Enzyme 98 Gene Name |
SLC6A5 |
| Enzyme 98 Protein Sequence |
>Sodium- and chloride-dependent glycine transporter 2
MDCSAPKEMNKLPANSPEAAAAQGHPDGPCAPRTSPEQELPAAAAPPPPRVPRSASTGAQ
TFQSADARACEAERPGVGSCKLSSPRAQAASAALRDLREAQGAQASPPPGSSGPGNALHC
KIPFLRGPEGDANVSVGKGTLERNNTPVVGWVNMSQSTVVLATDGITSVLPGSVATVATQ
EDEQGDENKARGNWSSKLDFILSMVGYAVGLGNVWRFPYLAFQNGGGAFLIPYLMMLALA
GLPIFFLEVSLGQFASQGPVSVWKAIPALQGCGIAMLIISVLIAIYYNVIICYTLFYLFA
SFVSVLPWGSCNNPWNTPECKDKTKLLLDSCVISDHPKIQIKNSTFCMTAYPNVTMVNFT
SQANKTFVSGSEEYFKYFVLKISAGIEYPGEIRWPLALCLFLAWVIVYASLAKGIKTSGK
VVYFTATFPYVVLVILLIRGVTLPGAGAGIWYFITPKWEKLTDATVWKDAATQIFFSLSA
AWGGLITLSSYNKFHNNCYRDTLIVTCTNSATSIFAGFVIFSVIGFMANERKVNIENVAD
QGPGIAFVVYPEALTRLPLSPFWAIIFFLMLLTLGLDTMFATIETIVTSISDEFPKYLRT
HKPVFTLGCCICFFIMGFPMITQGGIYMFQLVDTYAASYALVIIAIFELVGISYVYGLQR
FCEDIEMMIGFQPNIFWKVCWAFVTPTILTFILCFSFYQWEPMTYGSYRYPNWSMVLGWL
MLACSVIWIPIMFVIKMHLAPGRFIERLKLVCSPQPDWGPFLAQHRGERYKNMIDPLGTS
SLGLKLPVKDLELGTQC
|
| Enzyme 98 Number of Residues |
797 |
| Enzyme 98 Molecular Weight |
87433.1 |
| Enzyme 98 Theoretical pI |
7.56 |
| Enzyme 98 GO Classification |
| Function |
- neurotransmitter transporter activity
- neurotransmitter:sodium symporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- neurotransmitter transport
- transport
|
| Component |
- cell part
- integral to membrane
- integral to plasma membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 98 General Function |
Involved in neurotransmitter:sodium symporter activity |
| Enzyme 98 Specific Function |
Terminates the action of glycine by its high affinity sodium-dependent reuptake into presynaptic terminals. May be responsible for the termination of neurotransmission at strychnine-sensitive glycinergic synapses |
| Enzyme 98 Pathways |
Not Available |
| Enzyme 98 Reactions |
Not Available |
| Enzyme 98 Pfam Domain Function |
|
| Enzyme 98 Signals |
|
| Enzyme 98 Transmembrane Regions |
- 200-220
228-247
271-291
394-412
421-438
474-491
503-524
557-576
604-622
638-658
679-698
717-735
|
| Enzyme 98 Essentiality |
Not Available |
| Enzyme 98 GenBank ID Protein |
92859670  |
| Enzyme 98 UniProtKB/Swiss-Prot ID |
Q9Y345  |
| Enzyme 98 UniProtKB/Swiss-Prot Entry Name |
SC6A5_HUMAN  |
| Enzyme 98 PDB ID |
Not Available |
| Enzyme 98 Cellular Location |
Not Available |
| Enzyme 98 Gene Sequence |
>2394 bp
ATGGATTGCAGTGCTCCCAAGGAAATGAATAAACTGCCAGCCAACAGCCCGGAGGCGGCG
GCGGCGCAGGGCCACCCGGATGGCCCATGCGCTCCCAGGACGAGCCCGGAGCAGGAGCTT
CCCGCGGCTGCCGCCCCGCCGCCGCCACGTGTGCCCAGGTCCGCTTCCACCGGCGCCCAA
ACTTTCCAGTCAGCGGACGCGCGAGCCTGCGAGGCTGAGCGGCCAGGAGTGGGGTCTTGC
AAACTCAGTAGCCCGCGGGCGCAGGCGGCCTCTGCAGCTCTGCGGGACTTGAGAGAGGCG
CAAGGCGCGCAGGCCTCGCCCCCTCCCGGGAGCTCCGGGCCCGGCAACGCGCTGCACTGT
AAGATCCCTTTTCTGCGAGGCCCGGAGGGGGATGCGAACGTGAGTGTGGGCAAGGGCACC
CTGGAGCGGAACAATACCCCTGTTGTGGGCTGGGTGAACATGAGCCAGAGCACCGTGGTG
CTGGCCACGGATGGAATCACGTCCGTGCTCCCGGGCAGCGTGGCCACCGTTGCCACCCAG
GAGGACGAGCAAGGGGATGAGAATAAGGCCCGAGGGAACTGGTCCAGCAAACTGGACTTC
ATCCTGTCCATGGTGGGGTACGCAGTGGGGCTGGGCAATGTCTGGAGGTTTCCCTACCTG
GCCTTCCAGAACGGGGGAGGTGCTTTCCTCATCCCTTACCTGATGATGCTGGCTCTGGCT
GGATTACCCATCTTCTTCTTGGAGGTGTCGCTGGGCCAGTTTGCCAGCCAGGGACCAGTG
TCTGTGTGGAAGGCCATCCCAGCTCTACAAGGCTGTGGCATCGCGATGCTGATCATCTCT
GTCCTAATAGCCATATACTACAATGTGATTATTTGCTATACACTTTTCTACCTGTTTGCC
TCCTTTGTGTCTGTACTACCCTGGGGCTCCTGCAACAACCCTTGGAATACGCCAGAATGC
AAAGATAAAACCAAACTTTTATTAGATTCCTGTGTTATCAGTGACCATCCCAAAATACAG
ATCAAGAACTCGACTTTCTGCATGACCGCTTATCCCAACGTGACAATGGTTAATTTCACC
AGCCAGGCCAATAAGACATTTGTCAGTGGAAGTGAAGAGTACTTCAAGTACTTTGTGCTG
AAGATTTCTGCAGGGATTGAATATCCTGGCGAGATCAGGTGGCCACTAGCTCTCTGCCTC
TTCCTGGCTTGGGTCATTGTGTATGCATCATTGGCTAAAGGAATCAAGACTTCAGGAAAA
GTGGTGTACTTCACGGCCACGTTCCCGTATGTCGTACTCGTGATCCTCCTCATCCGAGGA
GTCACCCTGCCTGGAGCTGGAGCTGGGATCTGGTACTTCATCACACCCAAGTGGGAGAAA
CTCACGGATGCCACGGTGTGGAAAGATGCTGCCACTCAGATTTTCTTCTCTTTATCTGCT
GCATGGGGAGGCCTGATCACTCTCTCTTCTTACAACAAATTCCACAACAACTGCTACAGG
GACACTCTAATTGTCACCTGCACCAACAGTGCCACAAGCATCTTTGCCGGCTTCGTCATC
TTCTCCGTTATCGGCTTCATGGCCAATGAACGCAAAGTCAACATTGAGAATGTGGCAGAC
CAAGGGCCAGGCATTGCATTTGTGGTTTACCCGGAAGCCTTAACCAGGCTGCCTCTCTCT
CCGTTCTGGGCCATCATCTTTTTCCTGATGCTCCTCACTCTTGGACTTGACACTATGTTT
GCCACCATCGAGACCATAGTGACCTCCATCTCAGACGAGTTTCCCAAGTACCTACGCACA
CACAAGCCAGTGTTTACTCTGGGCTGCTGCATTTGTTTCTTCATCATGGGTTTTCCAATG
ATCACTCAGGGTGGAATTTACATGTTTCAGCTTGTGGACACCTATGCTGCCTCCTATGCC
CTTGTCATCATTGCCATTTTTGAGCTCGTGGGGATCTCTTATGTGTATGGCTTGCAAAGA
TTCTGTGAAGATATAGAGATGATGATTGGATTCCAGCCTAACATCTTCTGGAAAGTCTGC
TGGGCATTTGTAACCCCAACCATTTTAACCTTTATCCTTTGCTTCAGCTTTTACCAGTGG
GAGCCCATGACCTATGGCTCTTACCGCTATCCTAACTGGTCCATGGTGCTCGGATGGCTA
ATGCTCGCCTGTTCCGTCATCTGGATCCCAATTATGTTTGTGATAAAAATGCATCTGGCC
CCTGGAAGATTTATTGAGAGGCTGAAGTTGGTGTGCTCGCCACAGCCGGACTGGGGCCCA
TTCTTAGCTCAACACCGCGGGGAGCGTTACAAGAACATGATCGACCCCTTGGGAACCTCT
TCCTTGGGACTCAAACTGCCAGTGAAGGATTTGGAACTGGGCACTCAGTGCTAG
|
| Enzyme 98 GenBank Gene ID |
NM_004211.3  |
| Enzyme 98 GeneCard ID |
SLC6A5  |
| Enzyme 98 GenAtlas ID |
SLC6A5  |
| Enzyme 98 HGNC ID |
HGNC:11051  |
| Enzyme 98 Chromosome Location |
1 |
| Enzyme 98 Locus |
11p15.1 |
| Enzyme 98 SNPs |
SNPJam Report  |
| Enzyme 98 General References |
- Morrow JA, Collie IT, Dunbar DR, Walker GB, Shahid M, Hill DR: Molecular cloning and functional expression of the human glycine transporter GlyT2 and chromosomal localisation of the gene in the human genome. FEBS Lett. 1998 Nov 20;439(3):334-40. [PubMed
]
- Gallagher MJ, Burgess LH, Brunden KR: Characterization of multiple forms of the human glycine transporter type-2. Brain Res Mol Brain Res. 1999 Jun 18;70(1):101-15. [PubMed
]
- Evans J, Herdon H, Cairns W, O'Brien E, Chapman C, Terrett J, Gloger I: Cloning, functional characterisation and population analysis of a variant form of the human glycine type 2 transporter. FEBS Lett. 1999 Dec 17;463(3):301-6. [PubMed
]
- Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E, Chang JL, Cuomo CA, Eichler E, FitzGerald MG, Jaffe DB, LaButti K, Nicol R, Park HS, Seaman C, Sougnez C, Yang X, Zimmer AR, Zody MC, Birren BW, Nusbaum C, Fujiyama A, Hattori M, Rogers J, Lander ES, Sakaki Y: Human chromosome 11 DNA sequence and analysis including novel gene identification. Nature. 2006 Mar 23;440(7083):497-500. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Rees MI, Harvey K, Pearce BR, Chung SK, Duguid IC, Thomas P, Beatty S, Graham GE, Armstrong L, Shiang R, Abbott KJ, Zuberi SM, Stephenson JB, Owen MJ, Tijssen MA, van den Maagdenberg AM, Smart TG, Supplisson S, Harvey RJ: Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease. Nat Genet. 2006 Jul;38(7):801-6. Epub 2006 Jun 4. [PubMed
]
- Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE: The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314(5797):268-74. Epub 2006 Sep 7. [PubMed
]
|
| Enzyme 98 Metabolite References |
Not Available |
|
Enzyme 99
[top]
|
| Enzyme 99 ID |
8798 |
| Enzyme 99 Name |
Sodium bicarbonate cotransporter 3 |
| Enzyme 99 Synonyms |
- Sodium bicarbonate cotransporter 2
- Sodium bicarbonate cotransporter 2b
- Bicarbonate transporter
- Solute carrier family 4 member 7
|
| Enzyme 99 Gene Name |
SLC4A7 |
| Enzyme 99 Protein Sequence |
>Sodium bicarbonate cotransporter 3
MERFRLEKKLPGPDEEAVVDLGKTSSTVNTKFEKEELESHRAVYIGVHVPFSKESRRRHR
HRGHKHHHRRRKDKESDKEDGRESPSYDTPSQRVQFILGTEDDDEEHIPHDLFTEMDELC
YRDGEEYEWKETARWLKFEEDVEDGGDRWSKPYVATLSLHSLFELRSCILNGTVMLDMRA
STLDEIADMVLDNMIASGQLDESIRENVREALLKRHHHQNEKRFTSRIPLVRSFADIGKK
HSDPHLLERNGEGLSASRHSLRTGLSASNLSLRGESPLSLLLGHLLPSSRAGTPAGSRCT
TPVPTPQNSPPSSPSISRLTSRSSQESQRQAPELLVSPASDDIPTVVIHPPEEDLEAALK
GEEQKNEENVDLTPGILASPQSAPGNLDNSKSGEIKGNGSGGSRENSTVDFSKVDMNFMR
KIPTGAEASNVLVGEVDFLERPIIAFVRLAPAVLLTGLTEVPVPTRFLFLLLGPAGKAPQ
YHEIGRSIATLMTDEIFHDVAYKAKDRNDLLSGIDEFLDQVTVLPPGEWDPSIRIEPPKS
VPSQEKRKIPVFHNGSTPTLGETPKEAAHHAGPELQRTGRLFGGLILDIKRKAPFFLSDF
KDALSLQCLASILFLYCACMSPVITFGGLLGEATEGRISAIESLFGASLTGIAYSLFAGQ
PLTILGSTGPVLVFEKILYKFCRDYQLSYLSLRTSIGLWTSFLCIVLVATDASSLVCYIT
RFTEEAFAALICIIFIYEALEKLFDLGETYAFNMHNNLDKLTSYSCVCTEPPNPSNETLA
QWKKDNITAHNISWRNLTVSECKKLRGVFLGSACGHHGPYIPDVLFWCVILFFTTFFLSS
FLKQFKTKRYFPTKVRSTISDFAVFLTIVIMVTIDYLVGVPSPKLHVPEKFEPTHPERGW
IISPLGDNPWWTLLIAAIPALLCTILIFMDQQITAVIINRKEHKLKKGAGYHLDLLMVGV
MLGVCSVMGLPWFVAATVLSISHVNSLKVESECSAPGEQPKFLGIREQRVTGLMIFILMG
LSVFMTSVLKFIPMPVLYGVFLYMGVSSLKGIQLFDRIKLFGMPAKHQPDLIYLRYVPLW
KVHIFTVIQLTCLVLLWVIKVSAAAVVFPMMVLALVFVRKLMDLCFTKRELSWLDDLMPE
SKKKKEDDKKKKEKEEAERMLQDDDDTVHLPFEGGSLLQIPVKALKYSPDKPVSVKISFE
DEPRKKYVDAETSL
|
| Enzyme 99 Number of Residues |
1214 |
| Enzyme 99 Molecular Weight |
136042.6 |
| Enzyme 99 Theoretical pI |
6.70 |
| Enzyme 99 GO Classification |
| Function |
- anion transmembrane transporter activity
- anion:anion antiporter activity
- inorganic anion exchanger activity
- ion transmembrane transporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- anion transport
- establishment of localization
- ion transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 99 General Function |
Involved in anion transport |
| Enzyme 99 Specific Function |
Electroneutral sodium- and bicarbonate-dependent cotransporter with a Na(+):HCO3(-) 1:1 stoichiometry. Regulates intracellular pH and may play a role in bicarbonate salvage in secretory epithelia. May also have an associated sodium channel activity |
| Enzyme 99 Pathways |
Not Available |
| Enzyme 99 Reactions |
Not Available |
| Enzyme 99 Pfam Domain Function |
|
| Enzyme 99 Signals |
|
| Enzyme 99 Transmembrane Regions |
- 609-629
638-658
696-716
726-746
818-838
862-882
909-929
955-975
1012-1032
1035-1055
1093-1113
|
| Enzyme 99 Essentiality |
Not Available |
| Enzyme 99 GenBank ID Protein |
134288865  |
| Enzyme 99 UniProtKB/Swiss-Prot ID |
Q9Y6M7  |
| Enzyme 99 UniProtKB/Swiss-Prot Entry Name |
S4A7_HUMAN  |
| Enzyme 99 PDB ID |
Not Available |
| Enzyme 99 Cellular Location |
Not Available |
| Enzyme 99 Gene Sequence |
>3645 bp
ATGGAAAGATTTCGTCTGGAGAAGAAGTTACCTGGTCCTGATGAAGAAGCTGTTGTGGAT
CTTGGCAAAACTAGCTCAACTGTGAACACCAAGTTTGAAAAAGAAGAACTAGAAAGTCAT
AGAGCTGTATATATTGGTGTTCACGTCCCGTTTAGTAAAGAGAGTCGTCGGCGTCATAGG
CATCGCGGACACAAACATCACCACCGGAGAAGAAAAGATAAAGAATCAGATAAAGAAGAT
GGACGGGAATCTCCTTCTTATGATACACCATCCCAGAGAGTTCAGTTTATCCTTGGTACT
GAAGATGATGATGAAGAACATATTCCCCATGATCTCTTCACGGAAATGGATGAACTGTGT
TACAGAGATGGAGAAGAATATGAATGGAAAGAAACTGCTAGATGGCTGAAATTTGAAGAG
GATGTTGAAGATGGCGGTGACCGATGGAGTAAACCTTATGTGGCAACTCTCTCTTTGCAC
AGTCTTTTTGAACTAAGGAGTTGCATCCTCAATGGAACAGTCATGCTGGATATGAGAGCA
AGCACTCTAGATGAAATAGCAGATATGGTATTAGACAACATGATAGCTTCTGGCCAATTA
GACGAGTCCATACGAGAGAATGTCAGAGAAGCTCTTCTGAAGAGACATCATCATCAGAAT
GAGAAAAGATTCACCAGTCGGATTCCTCTTGTTCGATCTTTTGCAGATATAGGCAAGAAA
CATTCTGACCCTCACTTGCTTGAAAGGAATGGGGAAGGCCTTTCAGCCTCCCGCCACTCT
TTGCGAACAGGTCTGTCTGCCTCAAACCTTTCCTTGAGAGGAGAATCACCTTTATCTCTT
CTTCTTGGTCATCTTCTTCCTTCTTCAAGAGCTGGAACCCCTGCAGGCTCAAGGTGTACA
ACCCCAGTACCCACCCCTCAAAACAGTCCTCCTTCTAGCCCTAGCATCAGCCGCCTGACC
TCCAGAAGTTCCCAAGAGAGTCAGCGTCAGGCCCCAGAACTACTGGTTTCACCTGCCAGT
GATGATATTCCCACAGTAGTAATTCATCCGCCTGAGGAAGACTTAGAAGCAGCGCTGAAA
GGCGAGGAGCAGAAGAATGAGGAAAATGTTGACTTAACTCCAGGTATTTTGGCCTCTCCC
CAGTCTGCTCCTGGAAACTTGGACAATAGTAAAAGTGGAGAAATTAAAGGTAATGGAAGT
GGTGGAAGCAGAGAAAATAGTACTGTTGACTTCAGCAAGGTTGATATGAATTTCATGAGA
AAAATTCCTACGGGTGCTGAGGCATCCAACGTCCTGGTGGGCGAAGTAGACTTTTTGGAA
AGGCCAATAATTGCATTTGTGAGACTGGCTCCTGCTGTCCTCCTTACAGGGTTGACTGAG
GTCCCTGTTCCAACCAGGTTTTTGTTTTTGTTATTGGGTCCAGCGGGCAAGGCACCACAG
TACCATGAAATTGGACGATCAATAGCCACTCTCATGACAGATGAGATTTTCCATGATGTA
GCTTATAAAGCAAAAGACAGAAATGACCTCTTATCTGGAATTGATGAATTTTTAGATCAA
GTAACTGTCCTACCTCCAGGAGAGTGGGATCCTTCTATACGCATAGAACCACCAAAAAGT
GTCCCTTCTCAGGAAAAGAGAAAGATTCCTGTGTTTCACAATGGATCTACCCCCACACTG
GGTGAGACTCCTAAAGAGGCCGCTCATCATGCTGGGCCTGAGCTACAGAGGACTGGACGG
CTTTTTGGTGGTTTGATACTTGACATCAAAAGGAAAGCACCTTTTTTCTTGAGTGACTTC
AAGGATGCATTAAGCCTGCAGTGCCTGGCCTCGATTCTTTTCCTATACTGTGCCTGTATG
TCTCCTGTAATCACTTTTGGAGGGCTGCTTGGAGAAGCTACAGAAGGCAGAATAAGTGCA
ATAGAGTCTCTTTTTGGAGCATCATTAACTGGGATTGCCTATTCATTGTTTGCTGGGCAA
CCTCTAACAATATTGGGGAGCACAGGTCCAGTTCTAGTGTTTGAAAAAATTTTATATAAA
TTCTGCAGAGATTATCAACTTTCTTATCTGTCTTTAAGAACCAGTATTGGTCTGTGGACT
TCTTTTTTGTGCATTGTTTTGGTTGCAACAGATGCAAGCAGCCTTGTGTGTTATATTACT
CGATTTACAGAAGAGGCTTTTGCAGCCCTTATTTGCATCATATTCATCTACGAGGCTTTG
GAGAAGCTCTTTGATTTAGGAGAAACATATGCATTTAATATGCACAACAACTTAGATAAA
CTGACCAGCTACTCATGTGTATGTACTGAACCTCCAAACCCCAGCAATGAAACTCTAGCA
CAATGGAAGAAAGATAATATAACAGCACACAATATTTCCTGGAGAAATCTTACTGTTTCT
GAATGTAAAAAACTTCGTGGTGTATTCTTGGGGTCAGCTTGTGGTCATCATGGACCTTAT
ATTCCAGATGTGCTCTTTTGGTGTGTCATCTTGTTTTTCACAACATTTTTTCTGTCTTCA
TTCCTCAAGCAATTTAAGACCAAGCGTTACTTTCCTACCAAGGTGCGATCGACAATCAGT
GATTTTGCTGTATTTCTCACAATAGTAATAATGGTTACAATTGACTACCTTGTAGGAGTT
CCATCTCCTAAACTTCATGTTCCTGAAAAATTTGAGCCTACTCATCCAGAGAGAGGGTGG
ATCATAAGCCCACTGGGAGATAATCCTTGGTGGACCTTATTAATAGCTGCTATTCCTGCT
TTGCTTTGTACCATTCTCATCTTTATGGATCAACAAATCACAGCTGTAATTATAAACAGA
AAGGAACACAAATTGAAGAAAGGAGCTGGCTATCACCTTGATTTGCTCATGGTTGGCGTT
ATGTTGGGAGTTTGCTCTGTCATGGGACTTCCATGGTTTGTGGCTGCAACAGTGTTGTCA
ATAAGTCATGTCAACAGCTTAAAAGTTGAATCTGAATGTTCTGCTCCAGGGGAACAACCC
AAGTTTTTGGGAATTCGTGAACAGCGGGTTACAGGGCTAATGATTTTTATTCTAATGGGC
CTCTCTGTGTTCATGACTTCAGTCCTAAAGTTTATTCCAATGCCTGTTCTGTATGGTGTT
TTCCTTTATATGGGAGTTTCCTCATTAAAAGGAATCCAGTTATTTGACCGTATAAAATTA
TTTGGAATGCCTGCTAAGCATCAGCCTGATTTGATATACCTCCGTTATGTGCCGCTCTGG
AAGGTCCATATTTTCACAGTCATTCAGCTTACTTGTTTGGTCCTTTTATGGGTGATAAAA
GTTTCAGCTGCTGCAGTGGTTTTTCCCATGATGGTTCTTGCATTAGTGTTTGTGCGCAAA
CTCATGGACCTGTGTTTCACGAAGAGAGAACTTAGTTGGCTTGATGATCTTATGCCAGAA
AGTAAGAAAAAGAAAGAAGATGACAAAAAGAAAAAAGAGAAAGAGGAAGCTGAACGGATG
CTTCAAGATGATGATGATACTGTGCACCTTCCATTTGAAGGGGGAAGTCTCTTGCAAATT
CCAGTCAAGGCCCTAAAATATAGTCCTGATAAACCTGTGAGTGTGAAAATAAGTTTTGAA
GATGAACCAAGAAAGAAATACGTGGATGCTGAAACTTCATTATAG
|
| Enzyme 99 GenBank Gene ID |
NM_003615.3  |
| Enzyme 99 GeneCard ID |
SLC4A7  |
| Enzyme 99 GenAtlas ID |
SLC4A7  |
| Enzyme 99 HGNC ID |
HGNC:11033  |
| Enzyme 99 Chromosome Location |
3 |
| Enzyme 99 Locus |
3p22 |
| Enzyme 99 SNPs |
SNPJam Report  |
| Enzyme 99 General References |
- Ishibashi K, Sasaki S, Marumo F: Molecular cloning of a new sodium bicarbonate cotransporter cDNA from human retina. Biochem Biophys Res Commun. 1998 May 19;246(2):535-8. [PubMed
]
- Pushkin A, Abuladze N, Lee I, Newman D, Hwang J, Kurtz I: Cloning, tissue distribution, genomic organization, and functional characterization of NBC3, a new member of the sodium bicarbonate cotransporter family. J Biol Chem. 1999 Jun 4;274(23):16569-75. [PubMed
]
- Bechtel S, Rosenfelder H, Duda A, Schmidt CP, Ernst U, Wellenreuther R, Mehrle A, Schuster C, Bahr A, Blocker H, Heubner D, Hoerlein A, Michel G, Wedler H, Kohrer K, Ottenwalder B, Poustka A, Wiemann S, Schupp I: The full-ORF clone resource of the German cDNA Consortium. BMC Genomics. 2007 Oct 31;8:399. [PubMed
]
- Muzny DM, Scherer SE, Kaul R, Wang J, Yu J, Sudbrak R, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes AC, Hernandez J, Hodgson AV, Hume J, Jackson A, Khan ZM, Kovar-Smith C, Lewis LR, Lozado RJ, Metzker ML, Milosavljevic A, Miner GR, Morgan MB, Nazareth LV, Scott G, Sodergren E, Song XZ, Steffen D, Wei S, Wheeler DA, Wright MW, Worley KC, Yuan Y, Zhang Z, Adams CQ, Ansari-Lari MA, Ayele M, Brown MJ, Chen G, Chen Z, Clendenning J, Clerc-Blankenburg KP, Chen R, Chen Z, Davis C, Delgado O, Dinh HH, Dong W, Draper H, Ernst S, Fu G, Gonzalez-Garay ML, Garcia DK, Gillett W, Gu J, Hao B, Haugen E, Havlak P, He X, Hennig S, Hu S, Huang W, Jackson LR, Jacob LS, Kelly SH, Kube M, Levy R, Li Z, Liu B, Liu J, Liu W, Lu J, Maheshwari M, Nguyen BV, Okwuonu GO, Palmeiri A, Pasternak S, Perez LM, Phelps KA, Plopper FJ, Qiang B, Raymond C, Rodriguez R, Saenphimmachak C, Santibanez J, Shen H, Shen Y, Subramanian S, Tabor PE, Verduzco D, Waldron L, Wang J, Wang J, Wang Q, Williams GA, Wong GK, Yao Z, Zhang J, Zhang X, Zhao G, Zhou J, Zhou Y, Nelson D, Lehrach H, Reinhardt R, Naylor SL, Yang H, Olson M, Weinstock G, Gibbs RA: The DNA sequence, annotation and analysis of human chromosome 3. Nature. 2006 Apr 27;440(7088):1194-8. [PubMed
]
- Park M, Ko SB, Choi JY, Muallem G, Thomas PJ, Pushkin A, Lee MS, Kim JY, Lee MG, Muallem S, Kurtz I: The cystic fibrosis transmembrane conductance regulator interacts with and regulates the activity of the HCO3- salvage transporter human Na+-HCO3- cotransport isoform 3. J Biol Chem. 2002 Dec 27;277(52):50503-9. Epub 2002 Oct 25. [PubMed
]
- Pushkin A, Abuladze N, Newman D, Muronets V, Sassani P, Tatishchev S, Kurtz I: The COOH termini of NBC3 and the 56-kDa H+-ATPase subunit are PDZ motifs involved in their interaction. Am J Physiol Cell Physiol. 2003 Mar;284(3):C667-73. Epub 2002 Nov 20. [PubMed
]
- Loiselle FB, Morgan PE, Alvarez BV, Casey JR: Regulation of the human NBC3 Na+/HCO3- cotransporter by carbonic anhydrase II and PKA. Am J Physiol Cell Physiol. 2004 Jun;286(6):C1423-33. Epub 2004 Jan 21. [PubMed
]
- Brill LM, Salomon AR, Ficarro SB, Mukherji M, Stettler-Gill M, Peters EC: Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. Anal Chem. 2004 May 15;76(10):2763-72. [PubMed
]
- Reiners J, van Wijk E, Marker T, Zimmermann U, Jurgens K, te Brinke H, Overlack N, Roepman R, Knipper M, Kremer H, Wolfrum U: Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. Hum Mol Genet. 2005 Dec 15;14(24):3933-43. Epub 2005 Nov 21. [PubMed
]
- Cantin GT, Yi W, Lu B, Park SK, Xu T, Lee JD, Yates JR 3rd: Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis. J Proteome Res. 2008 Mar;7(3):1346-51. Epub 2008 Jan 26. [PubMed
]
- Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. Epub 2008 Jul 31. [PubMed
]
- Wollscheid B, Bausch-Fluck D, Henderson C, O'Brien R, Bibel M, Schiess R, Aebersold R, Watts JD: Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins. Nat Biotechnol. 2009 Apr;27(4):378-86. Epub 2009 Apr 6. [PubMed
]
- Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. Sci Signal. 2009 Aug 18;2(84):ra46. [PubMed
]
|
| Enzyme 99 Metabolite References |
Not Available |
|
Enzyme 100
[top]
|
| Enzyme 100 ID |
8821 |
| Enzyme 100 Name |
Solute carrier family 13 member 2 |
| Enzyme 100 Synonyms |
- Na(+)/dicarboxylate cotransporter 1
- NaDC-1
- Renal sodium/dicarboxylate cotransporter
|
| Enzyme 100 Gene Name |
SLC13A2 |
| Enzyme 100 Protein Sequence |
>Solute carrier family 13 member 2
MATCWQALWAYRSYLIVFFVPILLLPLPILVPSKEAYCAYAIILMALFWCTEALPLAVTA
LFPLILFPMMGIVDASEVAVEYLKDSNLLFFGGLLVAIAVEHWNLHKRIALRVLLIVGVR
PAPLILGFMLVTAFLSMWISNTATSAMMVPIAHAVLDQLHSSQASSNVEEGSNNPTFELQ
EPSPQKEVTKLDNGQALPVTSASSEGRAHLSQKHLHLTQCMSLCVCYSASIGGIATLTGT
APNLVLQGQINSLFPQNGNVVNFASWFSFAFPTMVILLLLAWLWLQILFLGFNFRKNFGI
GEKMQEQQQAAYCVIQTEHRLLGPMTFAEKAISILFVILVLLWFTREPGFFLGWGNLAFP
NAKGESMVSDGTVAIFIGIIMFIIPSKFPGLTQDPENPGKLKAPLGLLDWKTVNQKMPWN
IVLLLGGGYALAKGSERSGLSEWLGNKLTPLQSVPAPAIAIILSLLVATFTECTSNVATT
TIFLPILASMAQAICLHPLYVMLPCTLATSLAFMLPVATPPNAIVFSFGDLKVLDMARAG
FLLNIIGVLIIALAINSWGIPLFSLHSFPSWAQSNTTAQCLPSLANTTTPSP
|
| Enzyme 100 Number of Residues |
592 |
| Enzyme 100 Molecular Weight |
64409.5 |
| Enzyme 100 Theoretical pI |
7.01 |
| Enzyme 100 GO Classification |
| Function |
|
| Process |
- cation transport
- establishment of localization
- ion transport
- monovalent inorganic cation transport
- sodium ion transport
- transmembrane transport
- transport
|
| Component |
|
|
| Enzyme 100 General Function |
Involved in transporter activity |
| Enzyme 100 Specific Function |
Cotransport of sodium ions and dicarboxylates such as succinate and citrate |
| Enzyme 100 Pathways |
Not Available |
| Enzyme 100 Reactions |
Not Available |
| Enzyme 100 Pfam Domain Function |
|
| Enzyme 100 Signals |
|
| Enzyme 100 Transmembrane Regions |
- 13-33
53-73
86-106
114-134
221-241
274-294
324-344
371-391
450-470
482-502
511-531
545-565
|
| Enzyme 100 Essentiality |
Not Available |
| Enzyme 100 GenBank ID Protein |
Not Available |
| Enzyme 100 UniProtKB/Swiss-Prot ID |
Q13183  |
| Enzyme 100 UniProtKB/Swiss-Prot Entry Name |
S13A2_HUMAN  |
| Enzyme 100 PDB ID |
Not Available |
| Enzyme 100 Cellular Location |
Not Available |
| Enzyme 100 Gene Sequence |
>1779 bp
ATGGCCACCTGCTGGCAGGCCCTGTGGGCCTATCGCTCCTACCTGATCGTGTTCTTCGTG
CCCATTCTCCTGCTGCCTCTGCCCATCCTCGTCCCCAGTAAGGAGGCCTACTGCGCGTAT
GCCATCATCCTCATGGCGCTCTTCTGGTGCACTGAGGCCCTGCCCCTGGCCGTCACTGCC
CTCTTCCCCTTAATCCTGTTCCCTATGATGGGCATCGTGGATGCCTCTGAGGTTGCCGTC
GAGTATCTTAAGGACTCCAACCTCCTGTTCTTCGGGGGGCTGCTGGTGGCCATCGCGGTG
GAACACTGGAACCTGCATAAACGCATCGCCCTCCGTGTCCTCCTCATCGTTGGGGTGCGG
CCTGCCCCGCTAATCCTGGGCTTCATGCTGGTCACGGCCTTCCTGTCCATGTGGATCAGC
AACACGGCCACCTCAGCCATGATGGTGCCCATCGCACATGCCGTCCTGGACCAGCTGCAC
AGCTCGCAAGCCAGCAGCAACGTCGAGGAGGGCAGCAACAACCCCACCTTCGAGCTCCAG
GAACCAAGTCCCCAGAAGGAGGTGACCAAGCTTGATAATGGGCAGGCCCTCCCTGTCACG
TCTGCCTCTTCGGAGGGGAGGGCACATCTCAGCCAGAAGCATCTCCACCTCACCCAGTGC
ATGAGCCTGTGCGTGTGCTACTCCGCCAGCATCGGGGGCATCGCCACGCTGACTGGCACC
GCACCCAACCTGGTGCTGCAAGGCCAGATCAACTCGCTCTTCCCCCAAAACGGCAACGTG
GTGAACTTCGCCTCCTGGTTCAGCTTCGCCTTCCCCACCATGGTCATCTTGCTGCTGCTG
GCCTGGTTGTGGCTGCAGATCCTCTTCCTGGGCTTCAACTTCCGGAAGAACTTTGGCATT
GGGGAAAAGATGCAGGAGCAACAGCAGGCAGCCTACTGCGTCATCCAGACCGAGCACAGG
CTGCTGGGCCCCATGACCTTTGCAGAAAAGGCCATCAGCATCCTATTCGTCATCCTGGTG
CTGCTCTGGTTCACCCGGGAGCCGGGCTTTTTTCTTGGCTGGGGCAATTTGGCTTTTCCC
AATGCCAAGGGGGAGAGCATGGTGTCCGATGGGACAGTGGCCATCTTCATCGGCATAATT
ATGTTCATCATACCCTCCAAGTTCCCAGGGCTGACCCAGGACCCAGAAAACCCAGGGAAG
CTGAAGGCCCCTCTTGGCCTCCTCGACTGGAAGACGGTGAACCAGAAGATGCCGTGGAAT
ATCGTGTTATTGCTGGGTGGTGGCTATGCCCTGGCCAAGGGCAGTGAGCGATCGGGCCTG
TCAGAGTGGCTGGGAAACAAGCTGACCCCACTGCAGAGTGTGCCAGCTCCAGCCATTGCC
ATCATCCTCTCCCTCCTGGTGGCCACCTTCACCGAGTGCACTAGCAACGTGGCCACCACT
ACGATCTTCCTGCCCATCCTAGCCTCCATGGCCCAGGCCATCTGCCTCCACCCTCTCTAC
GTCATGCTCCCCTGCACTCTGGCCACCTCCCTGGCCTTCATGTTGCCTGTGGCCACCCCG
CCCAATGCCATCGTCTTCTCTTTCGGGGACCTCAAAGTGTTGGATATGGCCCGGGCAGGA
TTCCTCCTCAACATCATTGGAGTCCTGATCATCGCACTGGCCATCAACAGCTGGGGCATC
CCCCTCTTCAGCCTGCACTCTTTCCCCTCCTGGGCACAGTCCAACACCACAGCCCAGTGC
CTGCCAAGCCTGGCCAACACCACCACACCAAGCCCCTAG
|
| Enzyme 100 GenBank Gene ID |
U26209  |
| Enzyme 100 GeneCard ID |
SLC13A2  |
| Enzyme 100 GenAtlas ID |
SLC13A2  |
| Enzyme 100 HGNC ID |
HGNC:10917  |
| Enzyme 100 Chromosome Location |
1 |
| Enzyme 100 Locus |
17p13.2 |
| Enzyme 100 SNPs |
SNPJam Report  |
| Enzyme 100 General References |
- Pajor AM: Molecular cloning and functional expression of a sodium-dicarboxylate cotransporter from human kidney. Am J Physiol. 1996 Apr;270(4 Pt 2):F642-8. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Okamoto N, Aruga S, Matsuzaki S, Takahashi S, Matsushita K, Kitamura T: Associations between renal sodium-citrate cotransporter (hNaDC-1) gene polymorphism and urinary citrate excretion in recurrent renal calcium stone formers and normal controls. Int J Urol. 2007 Apr;14(4):344-9. [PubMed
]
|
| Enzyme 100 Metabolite References |
Not Available |
|
Enzyme 101
[top]
|
| Enzyme 101 ID |
8829 |
| Enzyme 101 Name |
Sodium-dependent phosphate transport protein 1 |
| Enzyme 101 Synonyms |
- Na(+)/PI cotransporter 1
- Na/Pi-4
- Renal Na(+)-dependent phosphate cotransporter 1
- Renal sodium-dependent phosphate transport protein 1
- Renal sodium-phosphate transport protein 1
- Sodium/phosphate cotransporter 1
- Solute carrier family 17 member 1
|
| Enzyme 101 Gene Name |
SLC17A1 |
| Enzyme 101 Protein Sequence |
>Sodium-dependent phosphate transport protein 1
MQMDNRLPPKKVPGFCSFRYGLSFLVHCCNVIITAQRACLNLTMVVMVNSTDPHGLPNTS
TKKLLDNIKNPMYNWSPDIQGIILSSTSYGVIIIQVPVGYFSGIYSTKKMIGFALCLSSV
LSLLIPPAAGIGVAWVVVCRAVQGAAQGIVATAQFEIYVKWAPPLERGRLTSMSTSGFLL
GPFIVLLVTGVICESLGWPMVFYIFGACGCAVCLLWFVLFYDDPKDHPCISISEKEYITS
SLVQQVSSSRQSLPIKAILKSLPVWAISTGSFTFFWSHNIMTLYTPMFINSMLHVNIKEN
GFLSSLPYLFAWICGNLAGQLSDFFLTRNILSVIAVRKLFTAAGFLLPAIFGVCLPYLSS
TFYSIVIFLILAGATGSFCLGGVFINGLDIAPRYFGFIKACSTLTGMIGGLIASTLTGLI
LKQDPESAWFKTFILMAAINVTGLIFYLIVATAEIQDWAKEKQHTRL
|
| Enzyme 101 Number of Residues |
467 |
| Enzyme 101 Molecular Weight |
51131.0 |
| Enzyme 101 Theoretical pI |
8.66 |
| Enzyme 101 GO Classification |
| Function |
- anion transmembrane transporter activity
- inorganic anion transmembrane transporter activity
- ion transmembrane transporter activity
- phosphate transmembrane transporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- anion transport
- establishment of localization
- inorganic anion transport
- ion transport
- phosphate transport
- transmembrane transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane part
|
|
| Enzyme 101 General Function |
Involved in transmembrane transport |
| Enzyme 101 Specific Function |
Important for the resorption of phosphate by the kidney. May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane |
| Enzyme 101 Pathways |
Not Available |
| Enzyme 101 Reactions |
Not Available |
| Enzyme 101 Pfam Domain Function |
|
| Enzyme 101 Signals |
|
| Enzyme 101 Transmembrane Regions |
- 81-101
119-139
178-198
200-220
257-277
301-321
339-359
365-385
401-421
433-453
|
| Enzyme 101 Essentiality |
Not Available |
| Enzyme 101 GenBank ID Protein |
154800443  |
| Enzyme 101 UniProtKB/Swiss-Prot ID |
Q14916  |
| Enzyme 101 UniProtKB/Swiss-Prot Entry Name |
NPT1_HUMAN  |
| Enzyme 101 PDB ID |
Not Available |
| Enzyme 101 Cellular Location |
Not Available |
| Enzyme 101 Gene Sequence |
>1404 bp
ATGCAAATGGATAACCGGTTGCCTCCCAAAAAAGTTCCAGGTTTCTGTTCCTTTCGCTAT
GGATTGTCTTTCCTTGTGCACTGTTGTAATGTTATAATAACAGCACAGCGTGCGTGCCTG
AACCTCACAATGGTAGTCATGGTGAATAGCACAGATCCACATGGTTTGCCCAACACCTCC
ACAAAGAAGCTCCTGGATAATATAAAGAACCCTATGTATAATTGGAGCCCAGATATCCAG
GGAATCATCTTGAGTTCCACCTCCTATGGTGTCATCATCATCCAAGTTCCTGTTGGATAC
TTCTCTGGAATATATTCTACAAAGAAAATGATTGGCTTTGCATTATGCCTCAGCTCTGTG
TTAAGCCTGCTCATCCCACCAGCAGCTGGAATTGGAGTAGCTTGGGTCGTTGTATGTCGA
GCAGTTCAGGGAGCAGCCCAGGGGATAGTTGCAACAGCCCAGTTTGAAATATATGTCAAA
TGGGCTCCTCCCCTGGAACGAGGCCGACTTACTTCTATGAGTACATCAGGGTTTTTGCTG
GGACCCTTTATTGTCCTACTTGTGACTGGAGTTATCTGTGAATCTCTGGGCTGGCCCATG
GTCTTCTATATTTTTGGTGCTTGTGGCTGTGCCGTATGTCTTCTCTGGTTCGTTCTGTTT
TATGATGACCCCAAAGACCACCCATGTATAAGCATCAGTGAAAAGGAATACATCACATCC
TCCCTGGTCCAGCAGGTCAGTTCAAGTAGACAATCTCTGCCTATCAAGGCTATACTTAAG
TCGCTTCCAGTCTGGGCTATTTCCACTGGTAGTTTTACGTTTTTCTGGTCACATAACATC
ATGACACTATACACTCCAATGTTTATCAACTCCATGCTTCATGTTAATATAAAAGAGAAT
GGGTTCTTGTCTTCCCTTCCCTATTTGTTTGCCTGGATCTGTGGTAACCTAGCAGGTCAG
TTATCAGACTTCTTCCTGACCAGGAATATTCTCAGCGTAATTGCTGTCCGGAAACTCTTC
ACAGCAGCAGGATTTCTCCTTCCTGCAATCTTTGGTGTCTGCCTGCCTTACCTGAGTTCC
ACCTTCTACAGCATTGTCATTTTCCTAATACTTGCTGGTGCAACAGGCAGCTTTTGCTTG
GGTGGAGTGTTTATAAATGGCTTGGATATTGCTCCCAGATATTTTGGATTTATTAAAGCA
TGTTCAACTTTAACTGGAATGATAGGAGGACTAATTGCTTCCACTTTGACTGGATTGATC
CTTAAGCAGGATCCGGAATCCGCCTGGTTTAAAACCTTCATCCTGATGGCAGCCATTAAT
GTGACTGGCCTAATTTTCTACCTTATAGTTGCTACAGCAGAAATTCAGGACTGGGCTAAA
GAAAAACAACACACACGTCTCTGA
|
| Enzyme 101 GenBank Gene ID |
NM_005074.3  |
| Enzyme 101 GeneCard ID |
SLC17A1  |
| Enzyme 101 GenAtlas ID |
SLC17A1  |
| Enzyme 101 HGNC ID |
HGNC:10929  |
| Enzyme 101 Chromosome Location |
6 |
| Enzyme 101 Locus |
6p23-p21.3 |
| Enzyme 101 SNPs |
SNPJam Report  |
| Enzyme 101 General References |
- Chong SS, Kristjansson K, Zoghbi HY, Hughes MR: Molecular cloning of the cDNA encoding a human renal sodium phosphate transport protein and its assignment to chromosome 6p21.3-p23. Genomics. 1993 Nov;18(2):355-9. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L, Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J, Beck S: The DNA sequence and analysis of human chromosome 6. Nature. 2003 Oct 23;425(6960):805-11. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Soumounou Y, Gauthier C, Tenenhouse HS: Murine and human type I Na-phosphate cotransporter genes: structure and promoter activity. Am J Physiol Renal Physiol. 2001 Dec;281(6):F1082-91. [PubMed
]
- Taketani Y, Miyamoto K, Chikamori M, Tanaka K, Yamamoto H, Tatsumi S, Morita K, Takeda E: Characterization of the 5' flanking region of the human NPT-1 Na+/phosphate cotransporter gene. Biochim Biophys Acta. 1998 Mar 13;1396(3):267-72. [PubMed
]
- Miyamoto K, Tatsumi S, Sonoda T, Yamamoto H, Minami H, Taketani Y, Takeda E: Cloning and functional expression of a Na(+)-dependent phosphate co-transporter from human kidney: cDNA cloning and functional expression. Biochem J. 1995 Jan 1;305 ( Pt 1):81-5. [PubMed
]
|
| Enzyme 101 Metabolite References |
Not Available |
|
Enzyme 102
[top]
|
| Enzyme 102 ID |
8833 |
| Enzyme 102 Name |
Sodium-dependent proline transporter |
| Enzyme 102 Synonyms |
- Solute carrier family 6 member 7
|
| Enzyme 102 Gene Name |
SLC6A7 |
| Enzyme 102 Protein Sequence |
>Sodium-dependent proline transporter
MKKLQGAHLRKPVTPDLLMTPSDQGDVDLDVDFAAHRGNWTGKLDFLLSCIGYCVGLGNV
WRFPYRAYTNGGGAFLVPYFLMLAICGIPLFFLELSLGQFSSLGPLAVWKISPLFKGAGA
AMLLIVGLVAIYYNMIIAYVLFYLFASLTSDLPWEHCGNWWNTELCLEHRVSKDGNGALP
LNLTCTVSPSEEYWSRYVLHIQGSQGIGSPGEIRWNLCLCLLLAWVIVFLCILKGVKSSG
KVVYFTATFPYLILLMLLVRGVTLPGAWKGIQFYLTPQFHHLLSSKVWIEAALQIFYSLG
VGFGGLLTFASYNTFHQNIYRDTFIVTLGNAITSILAGFAIFSVLGYMSQELGVPVDQVA
KAGPGLAFVVYPQAMTMLPLSPFWSFLFFFMLLTLGLDSQFAFLETIVTAVTDEFPYYLR
PKKAVFSGLICVAMYLMGLILTTDGGMYWLVLLDDYSASFGLMVVVITTCLAVTRVYGIQ
RFCRDIHMMLGFKPGLYFRACWLFLSPATLLALMVYSIVKYQPSEYGSYRFPPWAELLGI
LMGLLSCLMIPAGMLVAVLREEGSLWERLQQASRPAMDWGPSLEENRTGMYVATLAGSQS
PKPLMVHMRKYGGITSFENTAIEVDREIAEEEESMM
|
| Enzyme 102 Number of Residues |
636 |
| Enzyme 102 Molecular Weight |
70909.9 |
| Enzyme 102 Theoretical pI |
6.66 |
| Enzyme 102 GO Classification |
| Function |
- neurotransmitter transporter activity
- neurotransmitter:sodium symporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- neurotransmitter transport
- transport
|
| Component |
- cell part
- integral to membrane
- integral to plasma membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 102 General Function |
Involved in neurotransmitter:sodium symporter activity |
| Enzyme 102 Specific Function |
Terminates the action of proline by its high affinity sodium-dependent reuptake into presynaptic terminals |
| Enzyme 102 Pathways |
Not Available |
| Enzyme 102 Reactions |
Not Available |
| Enzyme 102 Pfam Domain Function |
|
| Enzyme 102 Signals |
|
| Enzyme 102 Transmembrane Regions |
- 46-66
74-93
117-137
215-233
242-259
295-312
324-345
378-397
425-443
459-479
500-519
538-556
|
| Enzyme 102 Essentiality |
Not Available |
| Enzyme 102 GenBank ID Protein |
134304856  |
| Enzyme 102 UniProtKB/Swiss-Prot ID |
Q99884  |
| Enzyme 102 UniProtKB/Swiss-Prot Entry Name |
SC6A7_HUMAN  |
| Enzyme 102 PDB ID |
Not Available |
| Enzyme 102 Cellular Location |
Not Available |
| Enzyme 102 Gene Sequence |
>1911 bp
ATGAAGAAGCTCCAGGGAGCTCACCTCCGCAAGCCTGTCACCCCAGACCTGCTGATGACC
CCCAGTGACCAGGGCGATGTCGACCTGGATGTGGACTTTGCTGCACACCGGGGGAACTGG
ACAGGCAAGCTGGACTTCCTGCTGTCCTGCATTGGCTACTGTGTAGGCCTGGGGAATGTC
TGGCGCTTCCCCTATCGAGCGTACACCAATGGAGGAGGCGCCTTCCTCGTGCCCTACTTC
CTCATGCTGGCCATCTGTGGCATCCCCCTCTTCTTCCTGGAGCTCTCCCTGGGCCAGTTC
TCCAGCCTAGGGCCCCTGGCTGTCTGGAAAATCAGCCCTCTCTTCAAAGGCGCCGGCGCA
GCCATGCTGCTCATCGTGGGCTTGGTGGCCATCTACTACAACATGATCATCGCCTACGTG
CTCTTCTACCTCTTCGCCTCCCTCACCAGCGACCTACCCTGGGAGCACTGTGGCAACTGG
TGGAACACAGAACTCTGCCTGGAGCACAGAGTCTCCAAGGACGGCAACGGGGCCCTGCCC
CTCAACCTCACCTGCACCGTCAGCCCCAGCGAGGAGTACTGGAGCCGCTACGTCCTCCAC
ATCCAAGGCAGCCAGGGCATCGGCAGCCCTGGGGAGATCCGCTGGAACCTCTGCCTCTGC
CTGCTGCTGGCCTGGGTCATCGTGTTCCTCTGTATCCTCAAGGGTGTGAAGTCTTCGGGC
AAGGTGGTGTATTTCACGGCCACGTTCCCCTACCTCATCCTGCTCATGCTGCTGGTCCGC
GGAGTCACCCTCCCAGGGGCCTGGAAGGGCATCCAGTTCTATCTCACCCCCCAGTTCCAC
CACTTGTTGTCTTCCAAGGTGTGGATTGAAGCTGCTCTTCAGATCTTCTATTCCCTGGGT
GTGGGCTTCGGGGGGCTCCTCACCTTTGCCTCCTACAACACGTTTCACCAGAACATCTAT
AGAGACACTTTCATCGTCACTCTGGGCAACGCCATCACCAGCATCCTGGCTGGCTTTGCC
ATCTTCTCCGTGCTGGGCTACATGTCTCAGGAGCTGGGCGTGCCTGTGGACCAAGTAGCC
AAAGCAGGCCCTGGCCTGGCCTTTGTCGTCTACCCACAGGCCATGACCATGCTGCCTCTG
TCACCCTTCTGGTCCTTTCTCTTCTTCTTCATGCTTCTGACTCTCGGCCTAGATAGCCAG
TTTGCTTTTCTGGAGACCATTGTGACAGCTGTGACAGATGAGTTCCCATACTACCTGCGG
CCCAAGAAGGCGGTGTTCTCAGGGCTCATCTGCGTGGCCATGTACCTGATGGGGCTGATC
CTCACCACTGATGGGGGCATGTACTGGCTGGTCCTTCTGGATGACTACAGCGCCAGCTTC
GGGCTGATGGTGGTGGTTATCACCACGTGCCTTGCCGTGACACGGGTGTATGGCATTCAG
AGGTTCTGCCGAGACATCCACATGATGCTGGGCTTCAAGCCGGGCCTCTACTTCAGGGCC
TGCTGGCTGTTCCTGTCCCCAGCCACGCTCTTGGCCCTCATGGTGTATAGCATCGTCAAG
TACCAGCCCTCGGAGTATGGCAGTTACCGCTTCCCGCCCTGGGCTGAGCTGCTGGGCATC
CTGATGGGCCTGCTGTCCTGCCTCATGATCCCAGCTGGCATGCTGGTGGCTGTGCTTCGA
GAAGAGGGCTCACTCTGGGAGCGGCTCCAACAGGCCAGCCGGCCGGCCATGGACTGGGGA
CCATCGCTGGAGGAGAACCGGACGGGCATGTATGTGGCCACGCTGGCTGGGAGCCAGTCA
CCAAAGCCACTGATGGTGCACATGCGCAAGTACGGGGGCATCACCAGCTTCGAGAACACG
GCCATCGAGGTGGACCGTGAGATTGCAGAGGAGGAGGAGTCGATGATGTGA
|
| Enzyme 102 GenBank Gene ID |
NM_014228.3  |
| Enzyme 102 GeneCard ID |
SLC6A7  |
| Enzyme 102 GenAtlas ID |
SLC6A7  |
| Enzyme 102 HGNC ID |
HGNC:11054  |
| Enzyme 102 Chromosome Location |
5 |
| Enzyme 102 Locus |
5q31-q32 |
| Enzyme 102 SNPs |
SNPJam Report  |
| Enzyme 102 General References |
- Shafqat S, Velaz-Faircloth M, Henzi VA, Whitney KD, Yang-Feng TL, Seldin MF, Fremeau RT Jr: Human brain-specific L-proline transporter: molecular cloning, functional expression, and chromosomal localization of the gene in human and mouse genomes. Mol Pharmacol. 1995 Aug;48(2):219-29. [PubMed
]
- Schmutz J, Martin J, Terry A, Couronne O, Grimwood J, Lowry S, Gordon LA, Scott D, Xie G, Huang W, Hellsten U, Tran-Gyamfi M, She X, Prabhakar S, Aerts A, Altherr M, Bajorek E, Black S, Branscomb E, Caoile C, Challacombe JF, Chan YM, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Glavina T, Gomez M, Gonzales E, Goodstein D, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Lopez F, Lou Y, Martinez D, Medina C, Morgan J, Nandkeshwar R, Noonan JP, Pitluck S, Pollard M, Predki P, Priest J, Ramirez L, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wheeler J, Wu K, Yang J, Dickson M, Cheng JF, Eichler EE, Olsen A, Pennacchio LA, Rokhsar DS, Richardson P, Lucas SM, Myers RM, Rubin EM: The DNA sequence and comparative analysis of human chromosome 5. Nature. 2004 Sep 16;431(7006):268-74. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
|
| Enzyme 102 Metabolite References |
Not Available |
|
Enzyme 103
[top]
|
| Enzyme 103 ID |
8842 |
| Enzyme 103 Name |
Excitatory amino acid transporter 4 |
| Enzyme 103 Synonyms |
- Sodium-dependent glutamate/aspartate transporter
- Solute carrier family 1 member 6
|
| Enzyme 103 Gene Name |
SLC1A6 |
| Enzyme 103 Protein Sequence |
>Excitatory amino acid transporter 4
MSSHGNSLFLRESGQRLGRVGWLQRLQESLQQRALRTRLRLQTMTLEHVLRFLRRNAFIL
LTVSAVVIGVSLAFALRPYQLTYRQIKYFSFPGELLMRMLQMLVLPLIVSSLVTGMASLD
NKATGRMGMRAAVYYMVTTIIAVFIGILMVTIIHPGKGSKEGLHREGRIETIPTADAFMD
LIRNMFPPNLVEACFKQFKTQYSTRVVTRTMVRTENGSEPGASMPPPFSVENGTSFLENV
TRALGTLQEMLSFEETVPVPGSANGINALGLVVFSVAFGLVIGGMKHKGRVLRDFFDSLN
EAIMRLVGIIIWYAPVGILFLIAGKILEMEDMAVLGGQLGMYTLTVIVGLFLHAGIVLPL
IYFLVTHRNPFPFIGGMLQALITAMGTSSSSATLPITFRCLEEGLGVDRRITRFVLPVGA
TVNMDGTALYEALAAIFIAQVNNYELNLGQITTISITATAASVGAAGIPQAGLVTMVIVL
TSVGLPTEDITLIIAVDWFLDRLRTMTNVLGDSIGAAVIEHLSQRELELQEAELTLPSLG
KPYKSLMAQEKGASRGRGGNESAM
|
| Enzyme 103 Number of Residues |
564 |
| Enzyme 103 Molecular Weight |
61564.9 |
| Enzyme 103 Theoretical pI |
9.54 |
| Enzyme 103 GO Classification |
| Function |
- carboxylic acid transmembrane transporter activity
- dicarboxylic acid transmembrane transporter activity
- organic acid transmembrane transporter activity
- sodium:dicarboxylate symporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- carboxylic acid transport
- dicarboxylic acid transport
- establishment of localization
- organic acid transport
- transport
|
| Component |
|
|
| Enzyme 103 General Function |
Involved in sodium:dicarboxylate symporter activity |
| Enzyme 103 Specific Function |
Transports L-glutamate and also L- and D-aspartate. Seems to act as a symport by cotransporting sodium |
| Enzyme 103 Pathways |
Not Available |
| Enzyme 103 Reactions |
Not Available |
| Enzyme 103 Pfam Domain Function |
|
| Enzyme 103 Signals |
|
| Enzyme 103 Transmembrane Regions |
- 56-76
99-119
133-153
265-285
306-326
345-365
370-390
418-438
460-480
481-501
|
| Enzyme 103 Essentiality |
Not Available |
| Enzyme 103 GenBank ID Protein |
Not Available |
| Enzyme 103 UniProtKB/Swiss-Prot ID |
P48664  |
| Enzyme 103 UniProtKB/Swiss-Prot Entry Name |
EAA4_HUMAN  |
| Enzyme 103 PDB ID |
Not Available |
| Enzyme 103 Cellular Location |
Not Available |
| Enzyme 103 Gene Sequence |
>1695 bp
ATGAGCAGCCATGGCAACAGCCTGTTCCTTCGGGAGAGCGGCCAGCGGCTGGGCCGGGTG
GGCTGGCTGCAGCGGCTGCAGGAAAGCCTGCAGCAGAGAGCACTGCGCACGCGCCTGCGC
CTGCAGACCATGACCCTCGAGCACGTGCTGCGCTTCCTGCGCCGAAACGCCTTCATTCTG
CTGACGGTCAGCGCCGTGGTCATTGGGGTCAGCCTGGCCTTTGCCCTGCGCCCATATCAG
CTCACCTACCGCCAGATCAAGTACTTCTCTTTTCCTGGAGAGCTTCTGATGAGGATGCTG
CAGATGCTGGTGTTACCTCTCATTGTCTCCAGCCTGGTCACAGGTATGGCATCCCTGGAC
AACAAGGCCACGGGGCGGATGGGGATGCGGGCAGCTGTGTACTACATGGTGACCACCATC
ATCGCGGTCTTCATCGGCATCCTCATGGTCACCATCATCCATCCCGGGAAGGGCTCCAAG
GAGGGGCTGCACCGGGAGGGCCGGATCGAGACCATCCCCACAGCTGATGCCTTCATGGAC
CTGATCAGAAATATGTTTCCACCAAACCTTGTGGAGGCCTGCTTCAAACAGTTCAAGACG
CAGTACAGCACGAGGGTGGTAACCAGGACCATGGTGAGGACAGAGAACGGGTCTGAGCCG
GGTGCCTCCATGCCTCCTCCATTCTCAGTGGAGAACGGAACCAGCTTCCTGGAAAATGTC
ACTCGGGCCTTGGGTACCCTGCAGGAGATGCTGAGCTTTGAGGAGACTGTACCCGTGCCT
GGCTCCGCCAATGGCATCAACGCCCTGGGCCTCGTGGTCTTCTCTGTGGCCTTTGGGCTG
GTCATTGGTGGCATGAAACACAAGGGCAGAGTCCTCAGGGACTTCTTCGACAGCCTCAAT
GAGGCTATTATGAGGCTGGTGGGCATCATTATCTGGTATGCACCTGTGGGCATCCTGTTC
CTGATTGCTGGGAAGATTCTGGAGATGGAAGACATGGCCGTCCTGGGGGGTCAGCTGGGC
ATGTACACCCTGACCGTCATCGTGGGCCTGTTCCTCCATGCCGGCATTGTCCTTCCCCTC
ATCTACTTCCTCGTCACTCACCGGAACCCCTTCCCCTTCATTGGGGGCATGCTACAAGCC
CTCATCACCGCTATGGGCACGTCTTCCAGCTCGGCAACGCTGCCCATCACCTTCCGCTGC
CTGGAGGAGGGCCTGGGTGTGGACCGCCGCATCACCAGGTTCGTCCTGCCCGTGGGCGCC
ACGGTCAACATGGATGGCACTGCCCTCTACGAGGCCCTGGCTGCCATCTTCATTGCTCAA
GTTAACAACTACGAGCTCAACCTGGGTCAGATCACAACCATCAGCATCACGGCCACAGCA
GCCAGTGTTGGGGCTGCTGGCATCCCCCAGGCGGGTCTGGTCACCATGGTCATTGTGCTT
ACGTCGGTCGGCTTGCCCACGGAAGACATCACGCTCATCATCGCCGTGGACTGGTTCCTT
GACCGGCTTCGCACAATGACCAACGTACTGGGGGACTCAATTGGAGCGGCCGTCATCGAG
CACTTGTCTCAGCGGGAGCTGGAGCTTCAGGAAGCTGAGCTTACCCTCCCCAGCCTGGGG
AAACCCTACAAGTCCCTCATGGCACAGGAGAAGGGGGCATCCCGGGGACGGGGAGGCAAC
GAGAGTGCTATGTGA
|
| Enzyme 103 GenBank Gene ID |
U18244  |
| Enzyme 103 GeneCard ID |
SLC1A6  |
| Enzyme 103 GenAtlas ID |
SLC1A6  |
| Enzyme 103 HGNC ID |
HGNC:10944  |
| Enzyme 103 Chromosome Location |
1 |
| Enzyme 103 Locus |
19p13.12 |
| Enzyme 103 SNPs |
SNPJam Report  |
| Enzyme 103 General References |
- Fairman WA, Vandenberg RJ, Arriza JL, Kavanaugh MP, Amara SG: An excitatory amino-acid transporter with properties of a ligand-gated chloride channel. Nature. 1995 Jun 15;375(6532):599-603. [PubMed
]
- Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J, Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel S, Carrano A, Caoile C, Chan YM, Christensen M, Cleland CA, Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M, Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V, Leem SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S, Pollard M, Popkie AP, Predki P, Quan G, Ramirez L, Rash S, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D, Slezak T, Solovyev V, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS, DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM, Lucas SM: The DNA sequence and biology of human chromosome 19. Nature. 2004 Apr 1;428(6982):529-35. [PubMed
]
|
| Enzyme 103 Metabolite References |
Not Available |
|
Enzyme 104
[top]
|
| Enzyme 104 ID |
8849 |
| Enzyme 104 Name |
Sodium/glucose cotransporter 2 |
| Enzyme 104 Synonyms |
- Na(+)/glucose cotransporter 2
- Low affinity sodium-glucose cotransporter
- Solute carrier family 5 member 2
|
| Enzyme 104 Gene Name |
SLC5A2 |
| Enzyme 104 Protein Sequence |
>Sodium/glucose cotransporter 2
MEEHTEAGSAPEMGAQKALIDNPADILVIAAYFLLVIGVGLWSMCRTNRGTVGGYFLAGR
SMVWWPVGASLFASNIGSGHFVGLAGTGAASGLAVAGFEWNALFVVLLLGWLFAPVYLTA
GVITMPQYLRKRFGGRRIRLYLSVLSLFLYIFTKISVDMFSGAVFIQQALGWNIYASVIA
LLGITMIYTVTGGLAALMYTDTVQTFVILGGACILMGYAFHEVGGYSGLFDKYLGAATSL
TVSEDPAVGNISSFCYRPRPDSYHLLRHPVTGDLPWPALLLGLTIVSGWYWCSDQVIVQR
CLAGKSLTHIKAGCILCGYLKLTPMFLMVMPGMISRILYPDEVACVVPEVCRRVCGTEVG
CSNIAYPRLVVKLMPNGLRGLMLAVMLAALMSSLASIFNSSSTLFTMDIYTRLRPRAGDR
ELLLVGRLWVVFIVVVSVAWLPVVQAAQGGQLFDYIQAVSSYLAPPVSAVFVLALFVPRV
NEQGAFWGLIGGLLMGLARLIPEFSFGSGSCVQPSACPAFLCGVHYLYFAIVLFFCSGLL
TLTVSLCTAPIPRKHLHRLVFSLRHSKEEREDLDADEQQGSSLPVQNGCPESAMEMNEPQ
APAPSLFRQCLLWFCGMSRGGVGSPPPLTQEEAAAAARRLEDISEDPSWARVVNLNALLM
MAVAVFLWGFYA
|
| Enzyme 104 Number of Residues |
672 |
| Enzyme 104 Molecular Weight |
72896.0 |
| Enzyme 104 Theoretical pI |
7.51 |
| Enzyme 104 GO Classification |
| Function |
|
| Process |
- establishment of localization
- transmembrane transport
- transport
|
| Component |
|
|
| Enzyme 104 General Function |
Involved in transporter activity |
| Enzyme 104 Specific Function |
Efficient substrate transport in mammalian kidney is provided by the concerted action of a low affinity high capacity and a high affinity low capacity Na(+)/glucose cotransporter arranged in series along kidney proximal tubules |
| Enzyme 104 Pathways |
Not Available |
| Enzyme 104 Reactions |
Not Available |
| Enzyme 104 Pfam Domain Function |
|
| Enzyme 104 Signals |
|
| Enzyme 104 Transmembrane Regions |
- 26-44
62-82
103-123
169-188
206-226
271-291
315-334
424-443
456-476
527-547
651-671
|
| Enzyme 104 Essentiality |
Not Available |
| Enzyme 104 GenBank ID Protein |
338053  |
| Enzyme 104 UniProtKB/Swiss-Prot ID |
P31639  |
| Enzyme 104 UniProtKB/Swiss-Prot Entry Name |
SC5A2_HUMAN  |
| Enzyme 104 PDB ID |
Not Available |
| Enzyme 104 Cellular Location |
Not Available |
| Enzyme 104 Gene Sequence |
>2019 bp
ATGGAGGAGCACACAGAGGCAGGCTCGGCACCAGAGATGGGGGCCCAGAAGGCCCTGATT
GACAATCCTGCTGACATCCTAGTCATTGCTGCATATTTCCTGCTGGTCATTGGCGTTGGC
TTGTGGTCCATGTGCAGAACCAACAGAGGCACTGTGGGCGGCTACTTCCTGGCAGGACGC
AGCATGGTGTGGTGGCCGGTTGGGGCCTCTCTCTTCGCCAGCAACATCGGCAGTGGCCAC
TTTGTGGGCCTGGCAGGGACTGGCGCTGCAAGTGGCTTGGCTGTTGCTGGATTCGAGTGG
AATGCGCTCTTCGTGGTGCTGCTACTGGGCTGGCTGTTTGCACCCGTGTACCTGACAGCG
GGGGTCATCACGATGCCACAGTACCTGCGCAAGCGCTTCGGCGGCCGCCGCATCCGCCTC
TACCTGTCTGTGCTCTCCCTTTTCCTGTACATCTTCACCAAGATCTCAGTGGACATGTTC
TCCGGAGCTGTATTCATCCAGCAGGCTCTGGGCTGGAACATCTATGCCTCCGTCATCGCG
CTTCTGGGCATCACCATGATTTACACGGTGACAGGAGGGCTGGCCGCGCTGATGTACACG
GACACGGTACAGACCTTCGTCATTCTGGGGGGCGCCTGCATCCTCATGGGTTACGCCTTC
CACGAGGTGGGCGGGTATTCGGGTCTCTTCGACAAATACCTGGGAGCAGCGACTTCGCTG
ACGGTGTCCGAGGATCCAGCCGTGGGAAACATCTCCAGCTTCTGCTATCGACCCCGGCCC
GACTCCTACCACCTGCTCCGGCACCCCGTGACCGGGGATCTGCCGTGGCCCGCGCTGCTC
CTCGGACTCACAATCGTCTCGGGCTGGTACTGGTGCAGCGACCAGGTCATCGTGCAGCGC
TGCCTGGCCGGGAAGAGCCTGACCCACATCAAGGCGGGCTGCATCCTGTGTGGGTACCTG
AAGCTGACGCCCATGTTTCTCATGGTCATGCCAGGCATGATCAGCCGCATTCTGTACCCA
GACGAGGTGGCGTGCGTGGTGCCTGAGGTGTGCAGGCGCGTGTGCGGCACGGAGGTGGGC
TGCTCCAACATCGCCTACCCGCGGCTCGTCGTGAAGCTCATGCCCAACGGTCTGCGCGGA
CTCATGCTGGCGGTCATGCTGGCCGCGCTCATGTCCTCGCTGGCCTCCATCTTCAACAGC
AGCAGCACGCTCTTCACCATGGACATCTACACGCGCCTGCGGCCACGCGCCGGCGACCGC
GAGCTGCTGCTGGTGGGACGGCTCTGGGTGGTGTTCATCGTGGTAGTGTCGGTGGCCTGG
CTTCCCGTGGTGCAGGCGGCACAGGGCGGGCAGCTCTTCGATTACATCCAGGCAGTCTCT
AGCTACCTGGCACCGCCCGTGTCCGCCGTCTTCGTGCTGGCGCTCTTCGTGCCGCGCGTT
AATGAGCAGGGCGCCTTCTGGGGACTCATCGGGGGCCTGCTGATGGGCCTGGCACGCCTG
ATTCCCGAGTTCTCCTTCGGCTCGGGCAGCTGTGTGCAGCCCTCGGCGTGCCCAGCTTTC
CTCTGCGGCGTGCACTACCTCTACTTCGCCATTGTGCTGTTCTTCTGCTCTGGCCTCCTC
ACCCTCACGGTCTCCCTGTGCACCGCGCCCATCCCCAGAAAGCACCTCCACCGCCTGGTC
TTCAGTCTCCGGCATAGCAAGGAGGAACGGGAGGACCTGGATGCTGATGAGCAGCAAGGC
TCCTCACTCCCTGTACAGAATGGGTGCCCAGAGAGTGCCATGGAGATGAATGAGCCCCAG
GCCCCGGCACCAAGCCTCTTCCGCCAGTGCCTGCTCTGGTTTTGTGGAATGAGCAGAGGT
GGGGTGGGCAGTCCTCCGCCCCTTACCCAGGAGGAGGCAGCGGCAGCAGCCAGGCGGCTG
GAGGACATCAGCGAGGACCCGAGCTGGGCCCGTGTGGTCAACCTCAATGCCCTGCTCATG
ATGGCAGTGGCCGTGTTCCTCTGGGGCTTCTATGCCTAA
|
| Enzyme 104 GenBank Gene ID |
M95549  |
| Enzyme 104 GeneCard ID |
SLC5A2  |
| Enzyme 104 GenAtlas ID |
SLC5A2  |
| Enzyme 104 HGNC ID |
HGNC:11037  |
| Enzyme 104 Chromosome Location |
1 |
| Enzyme 104 Locus |
16p12-p11 |
| Enzyme 104 SNPs |
SNPJam Report  |
| Enzyme 104 General References |
- Wells RG, Pajor AM, Kanai Y, Turk E, Wright EM, Hediger MA: Cloning of a human kidney cDNA with similarity to the sodium-glucose cotransporter. Am J Physiol. 1992 Sep;263(3 Pt 2):F459-65. [PubMed
]
- Calado J, Soto K, Clemente C, Correia P, Rueff J: Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria. Hum Genet. 2004 Feb;114(3):314-6. Epub 2003 Nov 12. [PubMed
]
|
| Enzyme 104 Metabolite References |
Not Available |
|
Enzyme 105
[top]
|
| Enzyme 105 ID |
8881 |
| Enzyme 105 Name |
Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) |
| Enzyme 105 Synonyms |
- Amino acid transporter ATB0+
- Solute carrier family 6 member 14
|
| Enzyme 105 Gene Name |
SLC6A14 |
| Enzyme 105 Protein Sequence |
>Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+)
MDKLKCPSFFKCREKEKVSASSENFHVGENDENQDRGNWSKKSDYLLSMIGYAVGLGNVW
RFPYLTYSNGGGAFLIPYAIMLALAGLPLFFLECSLGQFASLGPVSVWRILPLFQGVGIT
MVLISIFVTIYYNVIIAYSLYYMFASFQSELPWKNCSSWSDKNCSRSPIVTHCNVSTVNK
GIQEIIQMNKSWVDINNFTCINGSEIYQPGQLPSEQYWNKVALQRSSGMNETGVIVWYLA
LCLLLAWLIVGAALFKGIKSSGKVVYFTALFPYVVLLILLVRGATLEGASKGISYYIGAQ
SNFTKLKEAEVWKDAATQIFYSLSVAWGGLVALSSYNKFKNNCFSDAIVVCLTNCLTSVF
AGFAIFSILGHMAHISGKEVSQVVKSGFDLAFIAYPEALAQLPGGPFWSILFFFMLLTLG
LDSQFASIETITTTIQDLFPKVMKKMRVPITLGCCLVLFLLGLVCVTQAGIYWVHLIDHF
CAGWGILIAAILELVGIIWIYGGNRFIEDTEMMIGAKRWIFWLWWRACWFVITPILLIAI
FIWSLVQFHRPNYGAIPYPDWGVALGWCMIVFCIIWIPIMAIIKIIQAKGNIFQRLISCC
RPASNWGPYLEQHRGERYKDMVDPKKEADHEIPTVSGSRKPE
|
| Enzyme 105 Number of Residues |
642 |
| Enzyme 105 Molecular Weight |
72152.1 |
| Enzyme 105 Theoretical pI |
8.27 |
| Enzyme 105 GO Classification |
| Function |
- neurotransmitter transporter activity
- neurotransmitter:sodium symporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- neurotransmitter transport
- transport
|
| Component |
- cell part
- integral to membrane
- integral to plasma membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 105 General Function |
Involved in neurotransmitter:sodium symporter activity |
| Enzyme 105 Specific Function |
Mediates the uptake of a broad range of neutral and cationic amino acids (with the exception of proline) in a Na(+)/Cl(-)-dependent manner |
| Enzyme 105 Pathways |
Not Available |
| Enzyme 105 Reactions |
Not Available |
| Enzyme 105 Pfam Domain Function |
|
| Enzyme 105 Signals |
|
| Enzyme 105 Transmembrane Regions |
- 45-65
72-92
110-130
235-255
261-281
315-335
348-368
399-419
450-477
480-500
528-548
563-583
|
| Enzyme 105 Essentiality |
Not Available |
| Enzyme 105 GenBank ID Protein |
Not Available |
| Enzyme 105 UniProtKB/Swiss-Prot ID |
Q9UN76  |
| Enzyme 105 UniProtKB/Swiss-Prot Entry Name |
S6A14_HUMAN  |
| Enzyme 105 PDB ID |
Not Available |
| Enzyme 105 Cellular Location |
Not Available |
| Enzyme 105 Gene Sequence |
>1929 bp
ATGGACAAGTTGAAATGCCCGAGTTTCTTCAAGTGCAGGGAGAAGGAGAAAGTGTCGGCT
TCATCAGAGAATTTCCATGTTGGTGAAAATGATGAGAATCAGGACCGTGGTAACTGGTCC
AAAAAATCGGATTATCTTCTATCTATGATTGGATACGCAGTGGGATTAGGAAATGTGTGG
AGATTTCCATATCTGACCTACAGCAATGGTGGAGGCGCCTTCTTGATACCTTATGCAATT
ATGTTAGCATTGGCTGGTTTACCTTTGTTCTTTCTGGAGTGTTCACTGGGACAATTTGCT
AGCTTAGGTCCAGTTTCAGTTTGGAGGATTCTTCCATTGTTTCAAGGTGTGGGAATTACA
ATGGTCCTGATCTCCATTTTTGTGACAATCTATTACAATGTCATAATTGCCTATAGTCTT
TACTACATGTTTGCTTCTTTTCAAAGTGAACTACCATGGAAAAATTGTTCTTCGTGGTCA
GATAAAAACTGTAGCAGATCACCAATAGTAACTCACTGTAATGTGAGTACAGTGAATAAA
GGAATACAAGAGATCATCCAAATGAATAAAAGCTGGGTAGACATCAACAATTTTACCTGC
ATCAACGGCAGTGAAATTTATCAGCCAGGGCAGCTTCCCAGTGAACAATATTGGAATAAA
GTGGCGCTCCAACGGTCAAGTGGAATGAATGAGACTGGAGTAATTGTTTGGTATTTAGCA
CTTTGTCTTCTTCTGGCTTGGCTCATAGTTGGAGCAGCACTATTTAAAGGAATCAAATCG
TCTGGCAAGGTGGTATATTTTACAGCTCTTTTCCCCTATGTGGTCCTACTCATCCTGTTA
GTACGAGGTGCAACTCTGGAGGGTGCTTCAAAAGGCATTTCATACTATATTGGAGCCCAG
TCAAATTTTACAAAACTTAAGGAAGCTGAGGTATGGAAAGATGCTGCCACTCAGATATTT
TACTCCCTTTCAGTGGCTTGGGGTGGCTTAGTTGCTCTATCATCTTACAATAAGTTCAAA
AACAACTGCTTCTCTGATGCCATTGTGGTTTGTTTGACAAACTGTCTCACTAGCGTGTTT
GCTGGATTTGCTATTTTTTCTATATTGGGACACATGGCCCATATATCTGGAAAGGAAGTT
TCTCAAGTTGTAAAATCAGGTTTTGATTTGGCATTCATTGCCTATCCAGAGGCTCTAGCC
CAACTCCCAGGTGGTCCATTTTGGTCCATATTATTTTTTTTCATGCTTTTAACTTTGGGT
CTCGATTCTCAGTTTGCTTCGATTGAAACGATCACAACAACAATTCAAGATTTATTTCCC
AAAGTGATGAAGAAAATGAGGGTTCCCATAACTTTGGGCTGCTGCTTGGTTTTGTTTCTC
CTTGGTCTCGTCTGTGTGACTCAGGCTGGAATTTACTGGGTTCATCTGATTGACCACTTC
TGTGCTGGATGGGGCATTTTAATTGCAGCTATACTGGAGCTAGTTGGAATCATCTGGATT
TATGGAGGGAACAGATTCATTGAGGATACAGAAATGATGATTGGAGCAAAGAGGTGGATA
TTCTGGCTATGGTGGAGAGCTTGCTGGTTTGTAATTACGCCTATCCTTTTGATTGCAATA
TTTATCTGGTCATTGGTGCAATTTCATAGACCTAATTATGGCGCAATTCCATACCCTGAC
TGGGGAGTTGCTTTAGGCTGGTGTATGATTGTTTTCTGCATTATTTGGATACCAATTATG
GCTATCATAAAAATAATTCAGGCTAAAGGAAACATCTTTCAACGCCTTATAAGTTGCTGC
AGACCAGCTTCTAACTGGGGTCCATACCTGGAACAACATCGTGGGGAAAGATATAAAGAC
ATGGTAGATCCTAAAAAAGAGGCTGACCATGAAATACCTACTGTTAGTGGCAGCAGAAAA
CCGGAATGA
|
| Enzyme 105 GenBank Gene ID |
AF151978  |
| Enzyme 105 GeneCard ID |
SLC6A14  |
| Enzyme 105 GenAtlas ID |
SLC6A14  |
| Enzyme 105 HGNC ID |
HGNC:11047  |
| Enzyme 105 Chromosome Location |
Not Available |
| Enzyme 105 Locus |
Not Available |
| Enzyme 105 SNPs |
SNPJam Report  |
| Enzyme 105 General References |
- Sloan JL, Mager S: Cloning and functional expression of a human Na(+) and Cl(-)-dependent neutral and cationic amino acid transporter B(0+). J Biol Chem. 1999 Aug 20;274(34):23740-5. [PubMed
]
- Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T, Gibbs RA, Beck S, Rogers J, Bentley DR: The DNA sequence of the human X chromosome. Nature. 2005 Mar 17;434(7031):325-37. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Tiwari HK, Allison DB: Do allelic variants of SLC6A14 predispose to obesity? J Clin Invest. 2003 Dec;112(11):1633-6. [PubMed
]
- Suviolahti E, Oksanen LJ, Ohman M, Cantor RM, Ridderstrale M, Tuomi T, Kaprio J, Rissanen A, Mustajoki P, Jousilahti P, Vartiainen E, Silander K, Kilpikari R, Salomaa V, Groop L, Kontula K, Peltonen L, Pajukanta P: The SLC6A14 gene shows evidence of association with obesity. J Clin Invest. 2003 Dec;112(11):1762-72. [PubMed
]
|
| Enzyme 105 Metabolite References |
Not Available |
|
Enzyme 106
[top]
|
| Enzyme 106 ID |
8923 |
| Enzyme 106 Name |
Sodium-coupled neutral amino acid transporter 2 |
| Enzyme 106 Synonyms |
- Amino acid transporter A2
- Protein 40-9-1
- Solute carrier family 38 member 2
- System A amino acid transporter 2
- System A transporter 1
- System N amino acid transporter 2
|
| Enzyme 106 Gene Name |
SLC38A2 |
| Enzyme 106 Protein Sequence |
>Sodium-coupled neutral amino acid transporter 2
MKKAEMGRFSISPDEDSSSYSSNSDFNYSYPTKQAALKSHYADVDPENQNFLLESNLGKK
KYETEFHPGTTSFGMSVFNLSNAIVGSGILGLSYAMANTGIALFIILLTFVSIFSLYSVH
LLLKTANEGGSLLYEQLGYKAFGLVGKLAASGSITMQNIGAMSSYLFIVKYELPLVIQAL
TNIEDKTGLWYLNGNYLVLLVSLVVILPLSLFRNLGYLGYTSGLSLLCMVFFLIVVICKK
FQVPCPVEAALIINETINTTLTQPTALVPALSHNVTENDSCRPHYFIFNSQTVYAVPILI
FSFVCHPAVLPIYEELKDRSRRRMMNVSKISFFAMFLMYLLAALFGYLTFYEHVESELLH
TYSSILGTDILLLIVRLAVLMAVTLTVPVVIFPIRSSVTHLLCASKDFSWWRHSLITVSI
LAFTNLLVIFVPTIRDIFGFIGASAASMLIFILPSAFYIKLVKKEPMKSVQKIGALFFLL
SGVLVMTGSMALIVLDWVHNAPGGGH
|
| Enzyme 106 Number of Residues |
506 |
| Enzyme 106 Molecular Weight |
56025.4 |
| Enzyme 106 Theoretical pI |
8.12 |
| Enzyme 106 GO Classification |
Not Available |
| Enzyme 106 General Function |
Amino acid transport and metabolism |
| Enzyme 106 Specific Function |
Functions as a sodium-dependent amino acid transporter. Mediates the saturable, pH-sensitive and electrogenic cotransport of neutral amino acids and sodium ions with a stoichiometry of 1:1. May function in the transport of amino acids at the blood- brain barrier and in the supply of maternal nutrients to the fetus through the placenta |
| Enzyme 106 Pathways |
Not Available |
| Enzyme 106 Reactions |
Not Available |
| Enzyme 106 Pfam Domain Function |
|
| Enzyme 106 Signals |
|
| Enzyme 106 Transmembrane Regions |
- 77-97
103-123
159-179
189-209
218-238
293-313
330-350
372-392
414-434
437-457
475-495
|
| Enzyme 106 Essentiality |
Not Available |
| Enzyme 106 GenBank ID Protein |
Not Available |
| Enzyme 106 UniProtKB/Swiss-Prot ID |
Q96QD8  |
| Enzyme 106 UniProtKB/Swiss-Prot Entry Name |
S38A2_HUMAN  |
| Enzyme 106 PDB ID |
Not Available |
| Enzyme 106 Cellular Location |
Not Available |
| Enzyme 106 Gene Sequence |
>1521 bp
ATGAAGAAGGCCGAAATGGGACGATTCAGTATTTCCCCGGATGAAGACAGCAGCAGCTAC
AGTTCCAACAGCGACTTCAACTACTCCTACCCCACCAAGCAAGCTGCTCTGAAAAGCCAT
TATGCAGATGTAGATCCTGAAAACCAGAACTTTTTACTTGAATCGAATTTGGGGAAGAAG
AAGTATGAAACAGAATTTCATCCAGGTACTACTTCCTTTGGAATGTCAGTATTTAATCTG
AGCAATGCGATTGTGGGCAGTGGAATCCTTGGGCTTTCTTATGCCATGGCTAATACTGGA
ATTGCTCTTTTTATAATTCTCTTGACATTTGTGTCAATATTTTCCCTGTATTCTGTTCAT
CTCCTTTTGAAGACTGCCAATGAAGGAGGGTCTTTATTATATGAACAATTGGGATATAAG
GCATTTGGATTAGTTGGAAAGCTTGCAGCATCTGGATCAATTACAATGCAGAACATTGGA
GCTATGTCAAGCTACCTCTTCATAGTGAAATATGAGTTGCCTTTGGTGATCCAGGCATTA
ACGAACATTGAAGATAAAACTGGATTGTGGTATCTGAACGGGAACTATTTGGTTCTGTTG
GTGTCATTGGTGGTCATTCTTCCTTTGTCGCTGTTTAGAAATTTAGGATATTTGGGATAT
ACCAGTGGCCTTTCCTTGTTGTGTATGGTGTTCTTTCTGATTGTGGTCATTTGCAAGAAA
TTTCAGGTTCCGTGTCCTGTGGAAGCTGCTTTGATAATTAACGAAACAATAAACACCACC
TTAACACAGCCAACAGCTCTTGTACCTGCTTTGTCACATAACGTGACTGAAAATGACTCT
TGCAGACCTCACTATTTTATTTTCAACTCACAGACTGTCTATGCTGTGCCAATTCTGATC
TTTTCATTTGTCTGTCATCCTGCTGTTCTTCCCATCTATGAAGAACTGAAAGACCGCAGC
CGTAGAAGAATGATGAATGTGTCCAAGATTTCATTTTTTGCTATGTTTCTCATGTATCTG
CTTGCCGCCCTCTTTGGATACCTAACATTTTACGAACATGTTGAGTCAGAATTGCTTCAT
ACCTACTCTTCTATCTTGGGAACTGATATTCTTCTTCTCATTGTCCGTCTGGCTGTGTTA
ATGGCTGTGACCCTGACAGTACCAGTAGTTATTTTCCCAATCCGGAGTTCTGTAACTCAC
TTGTTGTGTGCATCAAAAGATTTCAGTTGGTGGCGTCATAGTCTCATTACAGTGTCTATC
TTGGCATTTACCAATTTACTTGTCATCTTTGTCCCAACTATTAGGGATATCTTTGGTTTT
ATTGGTGCATCTGCAGCTTCTATGTTGATTTTTATTCTTCCTTCTGCCTTCTATATCAAG
TTGGTGAAGAAAGAACCTATGAAATCTGTACAAAAGATTGGGGCTTTGTTCTTCCTGTTA
AGTGGTGTACTGGTGATGACCGGAAGCATGGCCTTGATTGTTTTGGATTGGGTACACAAT
GCACCTGGAGGTGGCCATTAA
|
| Enzyme 106 GenBank Gene ID |
AF259799  |
| Enzyme 106 GeneCard ID |
SLC38A2  |
| Enzyme 106 GenAtlas ID |
SLC38A2  |
| Enzyme 106 HGNC ID |
HGNC:13448  |
| Enzyme 106 Chromosome Location |
1 |
| Enzyme 106 Locus |
12q |
| Enzyme 106 SNPs |
SNPJam Report  |
| Enzyme 106 General References |
- Hatanaka T, Huang W, Wang H, Sugawara M, Prasad PD, Leibach FH, Ganapathy V: Primary structure, functional characteristics and tissue expression pattern of human ATA2, a subtype of amino acid transport system A. Biochim Biophys Acta. 2000 Jul 31;1467(1):1-6. [PubMed
]
- Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O: Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 2000 Feb 28;7(1):65-73. [PubMed
]
- Nakajima D, Okazaki N, Yamakawa H, Kikuno R, Ohara O, Nagase T: Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. DNA Res. 2002 Jun 30;9(3):99-106. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Palii SS, Chen H, Kilberg MS: Transcriptional control of the human sodium-coupled neutral amino acid transporter system A gene by amino acid availability is mediated by an intronic element. J Biol Chem. 2004 Jan 30;279(5):3463-71. Epub 2003 Nov 17. [PubMed
]
- Bevilacqua E, Bussolati O, Dall'Asta V, Gaccioli F, Sala R, Gazzola GC, Franchi-Gazzola R: SNAT2 silencing prevents the osmotic induction of transport system A and hinders cell recovery from hypertonic stress. FEBS Lett. 2005 Jun 20;579(16):3376-80. [PubMed
]
- Zhang Y, Wolf-Yadlin A, Ross PL, Pappin DJ, Rush J, Lauffenburger DA, White FM: Time-resolved mass spectrometry of tyrosine phosphorylation sites in the epidermal growth factor receptor signaling network reveals dynamic modules. Mol Cell Proteomics. 2005 Sep;4(9):1240-50. Epub 2005 Jun 11. [PubMed
]
- Gonzalez-Gonzalez IM, Cubelos B, Gimenez C, Zafra F: Immunohistochemical localization of the amino acid transporter SNAT2 in the rat brain. Neuroscience. 2005;130(1):61-73. [PubMed
]
- Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. Cell. 2006 Nov 3;127(3):635-48. [PubMed
]
- Gaccioli F, Huang CC, Wang C, Bevilacqua E, Franchi-Gazzola R, Gazzola GC, Bussolati O, Snider MD, Hatzoglou M: Amino acid starvation induces the SNAT2 neutral amino acid transporter by a mechanism that involves eukaryotic initiation factor 2alpha phosphorylation and cap-independent translation. J Biol Chem. 2006 Jun 30;281(26):17929-40. Epub 2006 Apr 18. [PubMed
]
- Melone M, Varoqui H, Erickson JD, Conti F: Localization of the Na(+)-coupled neutral amino acid transporter 2 in the cerebral cortex. Neuroscience. 2006 Jun 19;140(1):281-92. Epub 2006 Apr 17. [PubMed
]
- Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, Nardone J, Lee K, Reeves C, Li Y, Hu Y, Tan Z, Stokes M, Sullivan L, Mitchell J, Wetzel R, Macneill J, Ren JM, Yuan J, Bakalarski CE, Villen J, Kornhauser JM, Smith B, Li D, Zhou X, Gygi SP, Gu TL, Polakiewicz RD, Rush J, Comb MJ: Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer. Cell. 2007 Dec 14;131(6):1190-203. [PubMed
]
- Wolf-Yadlin A, Hautaniemi S, Lauffenburger DA, White FM: Multiple reaction monitoring for robust quantitative proteomic analysis of cellular signaling networks. Proc Natl Acad Sci U S A. 2007 Apr 3;104(14):5860-5. Epub 2007 Mar 26. [PubMed
]
- Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. Epub 2008 Jul 31. [PubMed
]
- Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. Anal Chem. 2009 Jun 1;81(11):4493-501. [PubMed
]
- Heibeck TH, Ding SJ, Opresko LK, Zhao R, Schepmoes AA, Yang F, Tolmachev AV, Monroe ME, Camp DG 2nd, Smith RD, Wiley HS, Qian WJ: An extensive survey of tyrosine phosphorylation revealing new sites in human mammary epithelial cells. J Proteome Res. 2009 Aug;8(8):3852-61. [PubMed
]
- Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. Sci Signal. 2009 Aug 18;2(84):ra46. [PubMed
]
|
| Enzyme 106 Metabolite References |
Not Available |
|
Enzyme 107
[top]
|
| Enzyme 107 ID |
8925 |
| Enzyme 107 Name |
Sodium-coupled neutral amino acid transporter 1 |
| Enzyme 107 Synonyms |
- Amino acid transporter A1
- N-system amino acid transporter 2
- Solute carrier family 38 member 1
- System A amino acid transporter 1
- System N amino acid transporter 1
|
| Enzyme 107 Gene Name |
SLC38A1 |
| Enzyme 107 Protein Sequence |
>Sodium-coupled neutral amino acid transporter 1
MMHFKSGLELTELQNMTVPEDDNISNDSNDFTEVENGQINSKFISDRESRRSLTNSHLEK
KKCDEYIPGTTSLGMSVFNLSNAIMGSGILGLAFALANTGILLFLVLLTSVTLLSIYSIN
LLLICSKETGCMVYEKLGEQVFGTTGKFVIFGATSLQNTGAMLSYLFIVKNELPSAIKFL
MGKEETFSAWYVDGRVLVVIVTFGIILPLCLLKNLGYLGYTSGFSLSCMVFFLIVVIYKK
FQIPCIVPELNSTISANSTNADTCTPKYVTFNSKTVYALPTIAFAFVCHPSVLPIYSELK
DRSQKKMQMVSNISFFAMFVMYFLTAIFGYLTFYDNVQSDLLHKYQSKDDILILTVRLAV
IVAVILTVPVLFFTVRSSLFELAKKTKFNLCRHTVVTCILLVVINLLVIFIPSMKDIFGV
VGVTSANMLIFILPSSLYLKITDQDGDKGTQRIWAALFLGLGVLFSLVSIPLVIYDWACS
SSSDEGH
|
| Enzyme 107 Number of Residues |
487 |
| Enzyme 107 Molecular Weight |
54047.0 |
| Enzyme 107 Theoretical pI |
7.03 |
| Enzyme 107 GO Classification |
Not Available |
| Enzyme 107 General Function |
Amino acid transport and metabolism |
| Enzyme 107 Specific Function |
Functions as a sodium-dependent amino acid transporter. Mediates the saturable, pH-sensitive and electrogenic cotransport of glutamine and sodium ions with a stoichiometry of 1:1. May also transport small zwitterionic and aliphatic amino acids with a lower affinity. May supply glutamatergic and GABAergic neurons with glutamine which is required for the synthesis of the neurotransmitters glutamate and GABA |
| Enzyme 107 Pathways |
Not Available |
| Enzyme 107 Reactions |
Not Available |
| Enzyme 107 Pfam Domain Function |
|
| Enzyme 107 Signals |
|
| Enzyme 107 Transmembrane Regions |
- 75-97
113-133
148-168
189-211
217-237
276-296
313-333
351-371
394-414
417-437
453-473
|
| Enzyme 107 Essentiality |
Not Available |
| Enzyme 107 GenBank ID Protein |
117168277  |
| Enzyme 107 UniProtKB/Swiss-Prot ID |
Q9H2H9  |
| Enzyme 107 UniProtKB/Swiss-Prot Entry Name |
S38A1_HUMAN  |
| Enzyme 107 PDB ID |
Not Available |
| Enzyme 107 Cellular Location |
Not Available |
| Enzyme 107 Gene Sequence |
>1464 bp
ATGATGCATTTCAAAAGTGGACTCGAATTAACTGAGTTGCAAAACATGACAGTGCCCGAG
GATGATAACATTAGCAATGACTCCAATGATTTCACCGAAGTAGAAAATGGTCAGATAAAT
AGCAAGTTTATTTCTGATCGTGAAAGTAGAAGAAGTCTCACAAACAGCCATTTGGAAAAA
AAGAAGTGTGATGAGTATATTCCAGGTACAACCTCCTTAGGCATGTCTGTTTTTAACCTA
AGCAACGCCATTATGGGCAGTGGGATTTTGGGACTCGCCTTTGCCCTGGCAAACACTGGA
ATCCTACTTTTTCTGGTACTTTTGACTTCAGTGACATTGCTGTCTATATATTCAATAAAC
CTCCTATTGATCTGTTCAAAAGAAACAGGCTGCATGGTGTATGAAAAGCTGGGGGAACAA
GTCTTTGGCACCACAGGGAAGTTCGTAATCTTTGGAGCCACCTCTCTACAGAACACTGGA
GCAATGCTGAGCTACCTCTTCATCGTAAAAAATGAACTACCCTCTGCCATAAAGTTTCTA
ATGGGAAAGGAAGAGACATTTTCAGCCTGGTACGTGGATGGCCGCGTTCTGGTGGTGATA
GTTACCTTTGGCATAATTCTCCCTCTGTGTCTCTTGAAGAACTTAGGGTATCTTGGCTAT
ACTAGTGGATTTTCCTTGAGCTGTATGGTTTTTTTCCTAATTGTGGTTATTTACAAGAAA
TTTCAAATTCCCTGCATTGTTCCAGAGCTAAATTCAACAATAAGTGCTAATTCAACAAAT
GCTGACACGTGTACGCCAAAATATGTTACCTTCAATTCAAAGACCGTGTATGCTTTACCC
ACCATTGCATTTGCATTTGTTTGCCACCCGTCAGTCCTGCCAATTTACAGTGAGCTTAAA
GACCGATCACAGAAAAAAATGCAGATGGTTTCAAACATCTCCTTTTTCGCCATGTTTGTT
ATGTACTTCTTGACTGCCATTTTTGGCTACTTGACATTCTATGACAACGTGCAGTCCGAC
CTCCTTCACAAATATCAGAGTAAAGATGACATTCTCATCCTGACAGTGCGGCTGGCTGTC
ATTGTTGCTGTGATCCTCACAGTGCCGGTGTTATTTTTCACGGTTCGTTCATCTTTATTT
GAACTGGCTAAGAAAACAAAGTTTAATTTATGTCGTCATACCGTGGTTACCTGCATACTC
TTGGTTGTTATCAACTTGTTGGTGATCTTCATACCCTCCATGAAGGATATTTTTGGAGTC
GTAGGAGTTACATCTGCTAACATGCTTATTTTCATTCTTCCTTCATCTCTTTATTTAAAA
ATCACAGACCAGGATGGAGATAAAGGAACTCAAAGAATTTGGGCTGCCCTTTTCTTGGGC
CTGGGGGTGTTGTTCTCCTTGGTCAGCATTCCCTTGGTCATCTATGACTGGGCCTGCTCA
TCGAGTAGTGACGAAGGCCACTGA
|
| Enzyme 107 GenBank Gene ID |
NM_001077484.1  |
| Enzyme 107 GeneCard ID |
SLC38A1  |
| Enzyme 107 GenAtlas ID |
SLC38A1  |
| Enzyme 107 HGNC ID |
HGNC:13447  |
| Enzyme 107 Chromosome Location |
1 |
| Enzyme 107 Locus |
12q13.11 |
| Enzyme 107 SNPs |
SNPJam Report  |
| Enzyme 107 General References |
- Wang H, Huang W, Sugawara M, Devoe LD, Leibach FH, Prasad PD, Ganapathy V: Cloning and functional expression of ATA1, a subtype of amino acid transporter A, from human placenta. Biochem Biophys Res Commun. 2000 Jul 14;273(3):1175-9. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J, Wakamatsu A, Kimura K, Sakamoto K, Hatano N, Kawai Y, Ishii S, Saito K, Kojima S, Sugiyama T, Ono T, Okano K, Yoshikawa Y, Aotsuka S, Sasaki N, Hattori A, Okumura K, Nagai K, Sugano S, Isogai T: Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. DNA Res. 2005;12(2):117-26. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Nelson DM, Smith SD, Furesz TC, Sadovsky Y, Ganapathy V, Parvin CA, Smith CH: Hypoxia reduces expression and function of system A amino acid transporters in cultured term human trophoblasts. Am J Physiol Cell Physiol. 2003 Feb;284(2):C310-5. Epub 2002 Sep 25. [PubMed
]
- Melone M, Quagliano F, Barbaresi P, Varoqui H, Erickson JD, Conti F: Localization of the glutamine transporter SNAT1 in rat cerebral cortex and neighboring structures, with a note on its localization in human cortex. Cereb Cortex. 2004 May;14(5):562-74. Epub 2004 Mar 28. [PubMed
]
- Desforges M, Lacey HA, Glazier JD, Greenwood SL, Mynett KJ, Speake PF, Sibley CP: SNAT4 isoform of system A amino acid transporter is expressed in human placenta. Am J Physiol Cell Physiol. 2006 Jan;290(1):C305-12. Epub 2005 Sep 7. [PubMed
]
- Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. Cell. 2006 Nov 3;127(3):635-48. [PubMed
]
- Ogura M, Nakamichi N, Takano K, Oikawa H, Kambe Y, Ohno Y, Taniura H, Yoneda Y: Functional expression of A glutamine transporter responsive to down-regulation by lipopolysaccharide through reduced promoter activity in cultured rat neocortical astrocytes. J Neurosci Res. 2006 Jun;83(8):1447-60. [PubMed
]
- Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. Mol Cell. 2008 Aug 8;31(3):438-48. [PubMed
]
- Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. Epub 2008 Jul 31. [PubMed
]
- Oppermann FS, Gnad F, Olsen JV, Hornberger R, Greff Z, Keri G, Mann M, Daub H: Large-scale proteomics analysis of the human kinome. Mol Cell Proteomics. 2009 Jul;8(7):1751-64. Epub 2009 Apr 15. [PubMed
]
|
| Enzyme 107 Metabolite References |
Not Available |
|
Enzyme 108
[top]
|
| Enzyme 108 ID |
8927 |
| Enzyme 108 Name |
Sodium-coupled neutral amino acid transporter 5 |
| Enzyme 108 Synonyms |
- Solute carrier family 38 member 5
- System N transporter 2
|
| Enzyme 108 Gene Name |
SLC38A5 |
| Enzyme 108 Protein Sequence |
>Sodium-coupled neutral amino acid transporter 5
MELQDPKMNGALPSDAVGYRQEREGFLPSRGPAPGSKPVQFMDFEGKTSFGMSVFNLSNA
IMGSGILGLAYAMAHTGVIFFLALLLCIALLSSYSIHLLLTCAGIAGIRAYEQLGQRAFG
PAGKVVVATVICLHNVGAMSSYLFIIKSELPLVIGTFLYMDPEGDWFLKGNLLIIIVSVL
IILPLALMKHLGYLGYTSGLSLTCMLFFLVSVIYKKFQLGCAIGHNETAMESEALVGLPS
QGLNSSCEAQMFTVDSQMSYTVPIMAFAFVCHPEVLPIYTELCRPSKRRMQAVANVSIGA
MFCMYGLTATFGYLTFYSSVKAEMLHMYSQKDPLILCVRLAVLLAVTLTVPVVLFPIRRA
LQQLLFPGKAFSWPRHVAIALILLVLVNVLVICVPTIRDIFGVIGSTSAPSLIFILPSIF
YLRIVPSEVEPFLSWPKIQALCFGVLGVLFMAVSLGFMFANWATGQSRMSGH
|
| Enzyme 108 Number of Residues |
472 |
| Enzyme 108 Molecular Weight |
51456.9 |
| Enzyme 108 Theoretical pI |
8.28 |
| Enzyme 108 GO Classification |
Not Available |
| Enzyme 108 General Function |
Amino acid transport and metabolism |
| Enzyme 108 Specific Function |
Functions as a sodium-dependent amino acid transporter which countertransport protons. Mediates the saturable, pH- sensitive, and electrogenic cotransport of several neutral amino acids including glycine, asparagine, alanine, serine, glutamine and histidine with sodium |
| Enzyme 108 Pathways |
Not Available |
| Enzyme 108 Reactions |
Not Available |
| Enzyme 108 Pfam Domain Function |
|
| Enzyme 108 Signals |
|
| Enzyme 108 Transmembrane Regions |
- 49-71
88-108
126-146
167-187
193-213
258-278
296-316
335-355
377-397
400-420
440-460
|
| Enzyme 108 Essentiality |
Not Available |
| Enzyme 108 GenBank ID Protein |
193788624  |
| Enzyme 108 UniProtKB/Swiss-Prot ID |
Q8WUX1  |
| Enzyme 108 UniProtKB/Swiss-Prot Entry Name |
S38A5_HUMAN  |
| Enzyme 108 PDB ID |
Not Available |
| Enzyme 108 Cellular Location |
Not Available |
| Enzyme 108 Gene Sequence |
>1419 bp
ATGGAACTGCAGGATCCAAAGATGAATGGAGCCCTCCCTTCGGATGCTGTGGGCTACAGG
CAAGAACGTGAGGGCTTCCTGCCCAGTCGTGGTCCTGCTCCTGGGAGCAAGCCGGTCCAG
TTCATGGATTTCGAGGGGAAGACATCGTTTGGAATGTCAGTGTTCAACCTCAGCAACGCC
ATCATGGGCAGCGGCATCCTGGGGCTGGCCTATGCCATGGCCCACACGGGGGTCATCTTC
TTCCTGGCCCTGCTGCTGTGCATTGCGCTTCTGTCGTCCTACTCCATCCACCTCCTGCTG
ACCTGTGCTGGTATTGCAGGCATCCGAGCCTATGAGCAGCTGGGACAGAGGGCATTCGGG
CCTGCGGGGAAGGTAGTGGTGGCCACAGTCATCTGTCTGCACAATGTTGGGGCCATGTCC
AGTTACCTGTTCATCATCAAATCTGAGCTCCCCCTGGTTATCGGCACCTTCCTGTACATG
GACCCCGAGGGGGACTGGTTCTTGAAGGGAAACCTCCTCATCATCATCGTCAGTGTGTTA
ATCATCCTGCCCCTCGCCCTCATGAAACACTTGGGCTACCTGGGGTACACCAGTGGTCTC
TCTCTGACCTGCATGCTGTTTTTCCTTGTTTCGGTCATCTACAAGAAGTTCCAACTTGGC
TGTGCTATAGGCCACAATGAAACAGCAATGGAGAGTGAAGCTCTCGTGGGACTCCCCAGC
CAAGGACTCAACAGCAGCTGTGAGGCCCAGATGTTCACAGTTGACTCACAGATGTCCTAC
ACAGTGCCCATTATGGCTTTTGCTTTTGTCTGCCACCCTGAGGTGCTGCCCATCTATACG
GAGCTCTGCCGGCCCTCCAAGCGCAGGATGCAGGCCGTGGCCAACGTGTCCATTGGGGCC
ATGTTCTGCATGTATGGGCTCACAGCAACCTTTGGATACCTCACCTTCTACAGCAGTGTG
AAGGCGGAGATGCTGCACATGTACAGCCAGAAGGACCCGCTCATCCTCTGTGTGCGCCTG
GCCGTGCTGCTCGCGGTGACCCTCACTGTGCCAGTCGTGCTGTTCCCTATCCGCCGGGCC
CTGCAGCAGCTGCTTTTCCCAGGCAAGGCCTTCAGCTGGCCACGACATGTGGCCATAGCT
CTGATCCTGCTTGTTTTGGTCAATGTCCTTGTCATCTGTGTGCCAACCATCCGGGATATC
TTTGGAGTTATCGGGTCCACCTCAGCCCCCAGCCTCATCTTCATCCTCCCCAGCATCTTC
TACCTCCGCATTGTACCCTCTGAGGTGGAGCCTTTCTTATCCTGGCCCAAGATCCAGGCC
CTGTGCTTTGGAGTCCTGGGAGTCCTCTTCATGGCCGTCAGTCTAGGCTTTATGTTTGCC
AACTGGGCCACAGGCCAGAGCCGCATGTCTGGACACTGA
|
| Enzyme 108 GenBank Gene ID |
NM_033518.2  |
| Enzyme 108 GeneCard ID |
SLC38A5  |
| Enzyme 108 GenAtlas ID |
SLC38A5  |
| Enzyme 108 HGNC ID |
HGNC:18070  |
| Enzyme 108 Chromosome Location |
Not Available |
| Enzyme 108 Locus |
Not Available |
| Enzyme 108 SNPs |
SNPJam Report  |
| Enzyme 108 General References |
- Nakanishi T, Sugawara M, Huang W, Martindale RG, Leibach FH, Ganapathy ME, Prasad PD, Ganapathy V: Structure, function, and tissue expression pattern of human SN2, a subtype of the amino acid transport system N. Biochem Biophys Res Commun. 2001 Mar;281(5):1343-8. [PubMed
]
- Wan D, Gong Y, Qin W, Zhang P, Li J, Wei L, Zhou X, Li H, Qiu X, Zhong F, He L, Yu J, Yao G, Jiang H, Qian L, Yu Y, Shu H, Chen X, Xu H, Guo M, Pan Z, Chen Y, Ge C, Yang S, Gu J: Large-scale cDNA transfection screening for genes related to cancer development and progression. Proc Natl Acad Sci U S A. 2004 Nov 2;101(44):15724-9. Epub 2004 Oct 21. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T, Gibbs RA, Beck S, Rogers J, Bentley DR: The DNA sequence of the human X chromosome. Nature. 2005 Mar 17;434(7031):325-37. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
|
| Enzyme 108 Metabolite References |
Not Available |
|
Enzyme 109
[top]
|
| Enzyme 109 ID |
9396 |
| Enzyme 109 Name |
Solute carrier family 28 member 3 |
| Enzyme 109 Synonyms |
- Concentrative Na(+)-nucleoside cotransporter 3
- CNT 3
- hCNT3
|
| Enzyme 109 Gene Name |
SLC28A3 |
| Enzyme 109 Protein Sequence |
>Solute carrier family 28 member 3
MELRSTAAPRAEGYSNVGFQNEENFLENENTSGNNSIRSRAVQSREHTNTKQDEEQVTVE
QDSPRNREHMEDDDEEMQQKGCLERRYDTVCGFCRKHKTTLRHIIWGILLAGYLVMVISA
CVLNFHRALPLFVITVAAIFFVVWDHLMAKYEHRIDEMLSPGRRLLNSHWFWLKWVIWSS
LVLAVIFWLAFDTAKLGQQQLVSFGGLIMYIVLLFLFSKYPTRVYWRPVLWGIGLQFLLG
LLILRTDPGFIAFDWLGRQVQTFLEYTDAGASFVFGEKYKDHFFAFKVLPIVVFFSTVMS
MLYYLGLMQWIIRKVGWIMLVTTGSSPIESVVASGNIFVGQTESPLLVRPYLPYITKSEL
HAIMTAGFSTIAGSVLGAYISFGVPSSHLLTASVMSAPASLAAAKLFWPETEKPKITLKN
AMKMESGDSGNLLEAATQGASSSISLVANIAVNLIAFLALLSFMNSALSWFGNMFDYPQL
SFELICSYIFMPFSFMMGVEWQDSFMVARLIGYKTFFNEFVAYEHLSKWIHLRKEGGPKF
VNGVQQYISIRSEIIATYALCGFANIGSLGIVIGGLTSMAPSRKRDIASGAVRALIAGTV
ACFMTACIAGILSSTPVDINCHHVLENAFNSTFPGNTTKVIACCQSLLSSTVAKGPGEVI
PGGNHSLYSLKGCCTLLNPSTFNCNGISNTF
|
| Enzyme 109 Number of Residues |
691 |
| Enzyme 109 Molecular Weight |
76929.6 |
| Enzyme 109 Theoretical pI |
7.67 |
| Enzyme 109 GO Classification |
| Function |
- binding
- nucleobase, nucleoside, nucleotide and nucleic acid transmembrane transporter activity
- nucleoside binding
- nucleoside transmembrane transporter activity
- nucleoside:sodium symporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- transport
|
| Component |
|
|
| Enzyme 109 General Function |
Involved in nucleoside:sodium symporter activity |
| Enzyme 109 Specific Function |
Sodium-dependent, pyrimidine- and purine-selective. Involved in the homeostasis of endogenous nucleosides. Exhibits the transport characteristics of the nucleoside transport system cib or N3 subtype (N3/cib) (with marked transport of both thymidine and inosine). Employs a 2:1 sodium/nucleoside ratio. Also able to transport gemcitabine, 3'-azido-3'-deoxythymidine (AZT), ribavirin and 3-deazauridine |
| Enzyme 109 Pathways |
Not Available |
| Enzyme 109 Reactions |
Not Available |
| Enzyme 109 Pfam Domain Function |
|
| Enzyme 109 Signals |
|
| Enzyme 109 Transmembrane Regions |
- 103-123
128-148
171-191
201-221
224-244
288-308
315-335
362-382
389-409
444-464
480-500
554-574
594-614
|
| Enzyme 109 Essentiality |
Not Available |
| Enzyme 109 GenBank ID Protein |
Not Available |
| Enzyme 109 UniProtKB/Swiss-Prot ID |
Q9HAS3  |
| Enzyme 109 UniProtKB/Swiss-Prot Entry Name |
S28A3_HUMAN  |
| Enzyme 109 PDB ID |
Not Available |
| Enzyme 109 Cellular Location |
Not Available |
| Enzyme 109 Gene Sequence |
>2076 bp
ATGGAGCTGAGGAGTACAGCAGCCCCCAGAGCTGAGGGCTACAGCAACGTGGGCTTCCAG
AATGAAGAAAACTTTCTTGAGAACGAGAACACATCAGGAAACAACTCAATAAGAAGCAGA
GCTGTGCAAAGCAGGGAGCACACAAACACCAAACAGGATGAAGAACAGGTCACAGTTGAG
CAGGATTCTCCAAGAAACAGAGAACACATGGAGGATGATGATGAGGAGATGCAACAAAAA
GGGTGTTTGGAAAGGAGGTATGACACAGTATGTGGTTTCTGTAGGAAACACAAAACAACT
CTTCGGCACATCATCTGGGGCATTTTATTAGCAGGTTATCTGGTTATGGTGATTTCGGCC
TGTGTGCTGAACTTTCACAGAGCCCTTCCTCTTTTTGTGATCACCGTGGCTGCCATCTTC
TTTGTTGTCTGGGATCACCTGATGGCCAAATACGAACATCGAATTGATGAGATGCTGTCT
CCTGGCAGAAGGCTTCTAAACAGCCATTGGTTCTGGCTGAAGTGGGTGATCTGGAGCTCC
CTGGTCCTAGCAGTTATTTTCTGGTTGGCCTTTGACACTGCCAAATTGGGTCAACAGCAG
CTGGTGTCCTTCGGTGGGCTCATAATGTACATTGTCCTGTTATTTCTATTTTCCAAGTAC
CCAACCAGAGTTTACTGGAGACCTGTCTTATGGGGAATCGGGCTACAGTTTCTTCTTGGG
CTCTTGATTCTAAGGACTGACCCTGGATTTATAGCTTTTGATTGGTTGGGCAGACAAGTT
CAGACTTTTCTGGAGTACACAGATGCTGGTGCTTCATTTGTCTTTGGTGAGAAATACAAA
GACCACTTCTTTGCATTTAAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCC
ATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTTGGATGGATCATGCTA
GTTACTACGGGATCATCTCCTATTGAATCTGTAGTTGCTTCTGGCAATATATTTGTTGGA
CAAACGGAGTCTCCACTGCTGGTCCGACCATATTTACCTTACATCACCAAGTCTGAACTC
CACGCCATCATGACCGCCGGGTTCTCTACCATTGCTGGAAGCGTGCTAGGTGCATACATT
TCTTTTGGGGTTCCATCCTCCCACTTGTTAACAGCGTCAGTTATGTCAGCACCTGCGTCA
TTGGCTGCTGCTAAACTCTTTTGGCCTGAGACAGAAAAACCTAAAATAACCCTCAAGAAT
GCCATGAAAATGGAAAGTGGTGATTCAGGGAATCTTCTAGAAGCTGCAACACAGGGAGCA
TCCTCCTCCATCTCCCTGGTGGCCAACATCGCTGTGAATCTGATTGCCTTCCTGGCCCTG
CTGTCTTTTATGAATTCAGCCCTGTCCTGGTTTGGAAACATGTTTGACTACCCACAGCTG
AGTTTTGAGCTAATCTGCTCCTACATCTTCATGCCCTTTTCCTTCATGATGGGAGTGGAA
TGGCAGGACAGCTTTATGGTTGCCAGACTCATAGGTTATAAGACCTTCTTCAATGAATTT
GTGGCTTATGAGCACCTCTCAAAATGGATCCACTTGAGGAAAGAAGGTGGACCCAAATTT
GTAAACGGTGTGCAGCAATATATATCAATTCGTTCTGAGATAATCGCCACTTACGCTCTC
TGTGGTTTTGCCAATATCGGGTCCCTAGGAATCGTGATCGGCGGACTCACATCCATGGCT
CCTTCCAGAAAGCGTGATATCGCCTCGGGGGCAGTGAGAGCTCTGATTGCGGGGACCGTG
GCCTGCTTCATGACAGCCTGCATCGCAGGCATACTCTCCAGCACTCCTGTGGACATCAAC
TGCCATCACGTTTTAGAGAATGCCTTCAACTCCACTTTCCCTGGAAACACAACCAAGGTG
ATAGCTTGTTGCCAAAGTCTGTTGAGCAGCACTGTTGCCAAGGGTCCTGGTGAAGTCATC
CCAGGAGGAAACCACAGTCTGTATTCTTTGAAGGGCTGCTGCACATTGTTGAATCCATCG
ACCTTTAACTGCAATGGGATCTCTAATACATTTTGA
|
| Enzyme 109 GenBank Gene ID |
AF305210  |
| Enzyme 109 GeneCard ID |
SLC28A3  |
| Enzyme 109 GenAtlas ID |
SLC28A3  |
| Enzyme 109 HGNC ID |
HGNC:16484  |
| Enzyme 109 Chromosome Location |
9 |
| Enzyme 109 Locus |
9q22.2 |
| Enzyme 109 SNPs |
SNPJam Report  |
| Enzyme 109 General References |
- Ritzel MW, Ng AM, Yao SY, Graham K, Loewen SK, Smith KM, Ritzel RG, Mowles DA, Carpenter P, Chen XZ, Karpinski E, Hyde RJ, Baldwin SA, Cass CE, Young JD: Molecular identification and characterization of novel human and mouse concentrative Na+-nucleoside cotransporter proteins (hCNT3 and mCNT3) broadly selective for purine and pyrimidine nucleosides (system cib). J Biol Chem. 2001 Jan 26;276(4):2914-27. Epub 2000 Oct 13. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL, Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R, Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H, Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ, Bentley DR, Beck S, Rogers J, Dunham I: DNA sequence and analysis of human chromosome 9. Nature. 2004 May 27;429(6990):369-74. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Damaraju S, Zhang J, Visser F, Tackaberry T, Dufour J, Smith KM, Slugoski M, Ritzel MW, Baldwin SA, Young JD, Cass CE: Identification and functional characterization of variants in human concentrative nucleoside transporter 3, hCNT3 (SLC28A3), arising from single nucleotide polymorphisms in coding regions of the hCNT3 gene. Pharmacogenet Genomics. 2005 Mar;15(3):173-82. [PubMed
]
- Hu H, Endres CJ, Chang C, Umapathy NS, Lee EW, Fei YJ, Itagaki S, Swaan PW, Ganapathy V, Unadkat JD: Electrophysiological characterization and modeling of the structure activity relationship of the human concentrative nucleoside transporter 3 (hCNT3). Mol Pharmacol. 2006 May;69(5):1542-53. Epub 2006 Jan 30. [PubMed
]
- Yamamoto T, Kuniki K, Takekuma Y, Hirano T, Iseki K, Sugawara M: Ribavirin uptake by cultured human choriocarcinoma (BeWo) cells and Xenopus laevis oocytes expressing recombinant plasma membrane human nucleoside transporters. Eur J Pharmacol. 2007 Feb 14;557(1):1-8. Epub 2006 Nov 3. [PubMed
]
- Badagnani I, Chan W, Castro RA, Brett CM, Huang CC, Stryke D, Kawamoto M, Johns SJ, Ferrin TE, Carlson EJ, Burchard EG, Giacomini KM: Functional analysis of genetic variants in the human concentrative nucleoside transporter 3 (CNT3; SLC28A3). Pharmacogenomics J. 2005;5(3):157-65. [PubMed
]
- Errasti-Murugarren E, Cano-Soldado P, Pastor-Anglada M, Casado FJ: Functional characterization of a nucleoside-derived drug transporter variant (hCNT3C602R) showing altered sodium-binding capacity. Mol Pharmacol. 2008 Feb;73(2):379-86. Epub 2007 Nov 9. [PubMed
]
|
| Enzyme 109 Metabolite References |
Not Available |
|
Enzyme 110
[top]
|
| Enzyme 110 ID |
9533 |
| Enzyme 110 Name |
Vesicular glutamate transporter 3 |
| Enzyme 110 Synonyms |
- VGluT3
- Solute carrier family 17 member 8
|
| Enzyme 110 Gene Name |
SLC17A8 |
| Enzyme 110 Protein Sequence |
>Vesicular glutamate transporter 3
MPFKAFDTFKEKILKPGKEGVKNAVGDSLGILQRKIDGTTEEEDNIELNEEGRPVQTSRP
SPPLCDCHCCGLPKRYIIAIMSGLGFCISFGIRCNLGVAIVEMVNNSTVYVDGKPEIQTA
QFNWDPETVGLIHGSFFWGYIMTQIPGGFISNKFAANRVFGAAIFLTSTLNMFIPSAARV
HYGCVMCVRILQGLVEGVTYPACHGMWSKWAPPLERSRLATTSFCGSYAGAVVAMPLAGV
LVQYIGWSSVFYIYGMFGIIWYMFWLLQAYECPAAHPTISNEEKTYIETSIGEGANVVSL
SKFSTPWKRFFTSLPVYAIIVANFCRSWTFYLLLISQPAYFEEVFGFAISKVGLLSAVPH
MVMTIVVPIGGQLADYLRSRQILTTTAVRKIMNCGGFGMEATLLLVVGFSHTKGVAISFL
VLAVGFSGFAISGFNVNHLDIAPRYASILMGISNGVGTLSGMVCPLIVGAMTRHKTREEW
QNVFLIAALVHYSGVIFYGVFASGEKQEWADPENLSEEKCGIIDQDELAEEIELNHESFA
SPKKKMSYGATSQNCEVQKKEWKGQRGATLDEEELTSYQNEERNFSTIS
|
| Enzyme 110 Number of Residues |
589 |
| Enzyme 110 Molecular Weight |
64990.6 |
| Enzyme 110 Theoretical pI |
6.29 |
| Enzyme 110 GO Classification |
| Function |
| — |
| Process |
- establishment of localization
- transmembrane transport
- transport
|
| Component |
| — |
|
| Enzyme 110 General Function |
Involved in transmembrane transport |
| Enzyme 110 Specific Function |
Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. May also mediate the transport of inorganic phosphate |
| Enzyme 110 Pathways |
Not Available |
| Enzyme 110 Reactions |
Not Available |
| Enzyme 110 Pfam Domain Function |
|
| Enzyme 110 Signals |
|
| Enzyme 110 Transmembrane Regions |
- 77-97
131-151
154-174
183-203
222-242
250-270
315-335
354-374
391-411
414-434
448-468
482-502
|
| Enzyme 110 Essentiality |
Not Available |
| Enzyme 110 GenBank ID Protein |
21213895  |
| Enzyme 110 UniProtKB/Swiss-Prot ID |
Q8NDX2  |
| Enzyme 110 UniProtKB/Swiss-Prot Entry Name |
VGLU3_HUMAN  |
| Enzyme 110 PDB ID |
Not Available |
| Enzyme 110 Cellular Location |
Not Available |
| Enzyme 110 Gene Sequence |
>1770 bp
ATGCCTTTTAAAGCATTTGATACCTTCAAAGAAAAAATTCTGAAACCTGGGAAGGAAGGA
GTGAAGAACGCCGTGGGAGATTCTTTGGGAATTTTACAAAGAAAAATCGATGGGACAACT
GAGGAAGAAGATAACATTGAGCTGAATGAAGAAGGAAGGCCGGTGCAGACGTCCAGGCCA
AGCCCCCCACTCTGCGACTGCCACTGCTGCGGCCTCCCCAAGCGTTACATCATTGCTATC
ATGAGTGGGCTGGGATTCTGCATTTCCTTTGGGATCCGGTGCAATCTTGGAGTTGCCATT
GTGGAAATGGTCAACAATAGCACCGTATATGTTGATGGAAAACCGGAAATTCAGACAGCA
CAGTTTAACTGGGATCCAGAAACAGTGGGCCTTATCCATGGATCTTTTTTCTGGGGCTAT
ATTATGACACAAATTCCAGGTGGTTTCATTTCAAACAAGTTTGCTGCTAACAGGGTCTTT
GGAGCTGCCATCTTCTTAACATCGACTCTGAACATGTTTATTCCCTCTGCAGCCAGAGTG
CATTACGGATGCGTCATGTGTGTCAGAATTCTGCAAGGTTTAGTGGAGGGTGTGACCTAC
CCAGCCTGCCATGGGATGTGGAGTAAGTGGGCACCACCTTTGGAGAGAAGCCGACTGGCC
ACAACCTCTTTTTGTGGTTCCTATGCAGGGGCAGTGGTTGCCATGCCCCTGGCTGGGGTG
TTGGTGCAGTACATTGGATGGTCCTCTGTCTTTTATATTTATGGCATGTTTGGGATTATT
TGGTACATGTTTTGGCTGTTGCAGGCCTATGAGTGCCCAGCAGCTCATCCAACAATATCC
AATGAGGAGAAGACCTATATAGAGACAAGCATAGGAGAGGGGGCCAACGTGGTTAGTCTA
AGTAAATTTAGTACCCCATGGAAAAGATTTTTCACATCTTTGCCGGTTTACGCAATCATT
GTGGCAAATTTTTGCAGAAGCTGGACCTTTTATTTGCTCCTCATAAGTCAGCCTGCTTAT
TTTGAAGAGGTCTTTGGATTTGCAATAAGTAAGGTGGGTCTCTTGTCAGCAGTCCCACAC
ATGGTTATGACAATCGTTGTACCTATTGGAGGACAATTGGCTGATTATTTAAGAAGCAGA
CAAATTTTAACCACAACTGCTGTCAGAAAAATCATGAACTGTGGAGGTTTTGGCATGGAG
GCAACCTTACTCCTGGTGGTTGGCTTTTCGCATACCAAAGGGGTGGCTATCTCCTTTCTG
GTACTTGCTGTAGGATTTAGTGGCTTCGCTATTTCAGGTTTTAATGTCAACCACCTGGAC
ATTGCCCCACGCTATGCCAGCATTCTCATGGGGATCTCAAACGGAGTGGGAACCCTCTCT
GGAATGGTCTGTCCCCTCATTGTCGGTGCAATGACCAGGCACAAGACCCGTGAAGAATGG
CAGAATGTGTTCCTCATAGCTGCCCTGGTGCATTACAGTGGTGTGATCTTCTATGGGGTC
TTTGCTTCTGGGGAGAAACAGGAGTGGGCTGACCCAGAGAATCTCTCTGAGGAGAAATGT
GGAATCATTGACCAGGACGAATTAGCTGAGGAGATAGAACTCAACCATGAGAGTTTTGCG
AGTCCCAAAAAGAAGATGTCTTATGGAGCCACCTCCCAGAATTGTGAAGTCCAGAAGAAG
GAATGGAAAGGACAGAGAGGAGCGACCCTTGATGAGGAAGAGCTGACATCCTACCAGAAT
GAAGAGAGAAACTTCTCAACTATATCCTAA
|
| Enzyme 110 GenBank Gene ID |
AJ459241  |
| Enzyme 110 GeneCard ID |
SLC17A8  |
| Enzyme 110 GenAtlas ID |
SLC17A8  |
| Enzyme 110 HGNC ID |
HGNC:20151  |
| Enzyme 110 Chromosome Location |
1 |
| Enzyme 110 Locus |
12q23.1 |
| Enzyme 110 SNPs |
SNPJam Report  |
| Enzyme 110 General References |
- Takamori S, Malherbe P, Broger C, Jahn R: Molecular cloning and functional characterization of human vesicular glutamate transporter 3. EMBO Rep. 2002 Aug;3(8):798-803. Epub 2002 Jul 15. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Ruel J, Emery S, Nouvian R, Bersot T, Amilhon B, Van Rybroek JM, Rebillard G, Lenoir M, Eybalin M, Delprat B, Sivakumaran TA, Giros B, El Mestikawy S, Moser T, Smith RJ, Lesperance MM, Puel JL: Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice. Am J Hum Genet. 2008 Aug;83(2):278-92. [PubMed
]
|
| Enzyme 110 Metabolite References |
Not Available |
|
Enzyme 111
[top]
|
| Enzyme 111 ID |
9534 |
| Enzyme 111 Name |
Vesicular glutamate transporter 2 |
| Enzyme 111 Synonyms |
- VGluT2
- Differentiation-associated BNPI
- Differentiation-associated Na(+)-dependent inorganic phosphate cotransporter
- Solute carrier family 17 member 6
|
| Enzyme 111 Gene Name |
SLC17A6 |
| Enzyme 111 Protein Sequence |
>Vesicular glutamate transporter 2
MESVKQRILAPGKEGLKNFAGKSLGQIYRVLEKKQDTGETIELTEDGKPLEVPERKAPLC
DCTCFGLPRRYIIAIMSGLGFCISFGIRCNLGVAIVDMVNNSTIHRGGKVIKEKAKFNWD
PETVGMIHGSFFWGYIITQIPGGYIASRLAANRVFGAAILLTSTLNMLIPSAARVHYGCV
IFVRILQGLVEGVTYPACHGIWSKWAPPLERSRLATTSFCGSYAGAVIAMPLAGILVQYT
GWSSVFYVYGSFGMVWYMFWLLVSYESPAKHPTITDEERRYIEESIGESANLLGAMEKFK
TPWRKFFTSMPVYAIIVANFCRSWTFYLLLISQPAYFEEVFGFEISKVGMLSAVPHLVMT
IIVPIGGQIADFLRSKQILSTTTVRKIMNCGGFGMEATLLLVVGYSHTRGVAISFLVLAV
GFSGFAISGFNVNHLDIAPRYASILMGISNGVGTLSGMVCPIIVGAMTKNKSREEWQYVF
LIAALVHYGGVIFYAIFASGEKQPWADPEETSEEKCGFIHEDELDEETGDITQNYINYGT
TKSYGATTQANGGWPSGWEKKEEFVQGEVQDSHSYKDRVDYS
|
| Enzyme 111 Number of Residues |
582 |
| Enzyme 111 Molecular Weight |
64391.9 |
| Enzyme 111 Theoretical pI |
7.05 |
| Enzyme 111 GO Classification |
| Function |
| — |
| Process |
- establishment of localization
- transmembrane transport
- transport
|
| Component |
| — |
|
| Enzyme 111 General Function |
Involved in transmembrane transport |
| Enzyme 111 Specific Function |
Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. May also mediate the transport of inorganic phosphate |
| Enzyme 111 Pathways |
Not Available |
| Enzyme 111 Reactions |
Not Available |
| Enzyme 111 Pfam Domain Function |
|
| Enzyme 111 Signals |
|
| Enzyme 111 Transmembrane Regions |
- 72-92
126-146
149-169
178-198
217-237
245-265
311-331
350-370
387-407
410-430
444-464
478-498
|
| Enzyme 111 Essentiality |
Not Available |
| Enzyme 111 GenBank ID Protein |
7328923  |
| Enzyme 111 UniProtKB/Swiss-Prot ID |
Q9P2U8  |
| Enzyme 111 UniProtKB/Swiss-Prot Entry Name |
VGLU2_HUMAN  |
| Enzyme 111 PDB ID |
Not Available |
| Enzyme 111 Cellular Location |
Not Available |
| Enzyme 111 Gene Sequence |
>1749 bp
ATGGAATCCGTAAAACAAAGGATTTTGGCCCCAGGAAAAGAGGGGCTAAAGAATTTTGCT
GGAAAATCACTCGGCCAGATCTACAGGGTGCTGGAGAAGAAGCAAGACACCGGGGAGACA
ATCGAGCTGACGGAGGATGGGAAGCCCCTAGAGGTGCCCGAGAGGAAGGCGCCGCTGTGC
GACTGCACGTGCTTCGGCCTGCCCCGCCGCTACATTATCGCCATCATGAGCGGCCTGGGC
TTCTGCATCTCCTTCGGTATCCGCTGCAACCTGGGCGTGGCCATTGTGGACATGGTCAAC
AACAGCACCATCCACCGCGGGGGCAAGGTCATCAAGGAGAAAGCCAAATTCAACTGGGAC
CCGGAAACCGTGGGGATGATCCACGGTTCCTTCTTTTGGGGCTACATCATCACTCAGATT
CCGGGAGGCTACATCGCGTCTCGGCTGGCAGCCAACAGGGTTTTCGGAGCTGCCATACTT
CTTACCTCTACCCTAAATATGCTAATTCCATCAGCAGCCAGAGTGCATTATGGATGTGTC
ATCTTTGTCAGAATACTGCAGGGACTTGTTGAGGGTGTGACCTACCCAGCATGTCATGGG
ATATGGAGCAAATGGGCCCCACCTCTAGAGAGGAGTAGACTGGCAACCACCTCCTTTTGT
GGTTCCTATGCCGGAGCTGTGATTGCAATGCCTTTAGCTGGCATTCTTGTGCAGTACACT
GGCTGGTCTTCAGTGTTTTATGTCTACGGAAGCTTTGGAATGGTCTGGTACATGTTTTGG
CTTTTGGTGTCTTATGAAAGTCCTGCAAAGCATCCTACTATTACAGATGAAGAACGTAGG
TACATAGAAGAAAGCATTGGAGAGAGTGCAAATCTTTTAGGTGCAATGGAAAAATTCAAG
ACTCCATGGAGGAAGTTTTTTACATCCATGCCAGTCTATGCAATAATTGTTGCAAACTTC
TGCAGAAGCTGGACTTTTTATTTATTGCTTATTAGTCAGCCAGCATATTTTGAGGAAGTC
TTTGGATTTGAAATTAGCAAGGTTGGTATGCTATCTGCTGTGCCACACTTAGTAATGACA
ATTATTGTGCCTATTGGGGGACAAATTGCAGATTTTCTAAGAAGCAAGCAGATTCTTTCA
ACTACGACAGTGAGAAAGATCATGAATTGTGGTGGTTTTGGCATGGAAGCCACACTGCTC
CTGGTCGTTGGCTATTCTCATACTAGAGGGGTAGCAATCTCATTCTTGGTACTTGCAGTG
GGATTCAGTGGATTTGCTATATCTGGTTTCAATGTTAACCACTTGGATATCGCTCCAAGA
TATGCCAGTATCTTAATGGGCATTTCGAATGGTGTTGGCACATTGTCAGGAATGGTTTGT
CCTATCATTGTTGGTGCAATGACAAAGAATAAGTCACGTGAAGAGTGGCAGTATGTCTTC
CTGATCGCTGCCCTAGTCCACTATGGTGGAGTTATATTTTATGCAATATTTGCCTCAGGA
GAGAAACAACCCTGGGCAGACCCGGAGGAAACAAGTGAAGAAAAATGTGGATTTATTCAT
GAAGATGAACTCGATGAAGAAACAGGGGACATTACTCAAAATTATATAAATTATGGTACC
ACCAAGTCTTATGGTGCCACAACACAGGCCAATGGAGGTTGGCCTAGTGGTTGGGAAAAG
AAAGAGGAATTTGTACAAGGAGAAGTACAAGACTCACATAGCTATAAGGACCGAGTTGAT
TATTCATAA
|
| Enzyme 111 GenBank Gene ID |
AB032435  |
| Enzyme 111 GeneCard ID |
SLC17A6  |
| Enzyme 111 GenAtlas ID |
SLC17A6  |
| Enzyme 111 HGNC ID |
HGNC:16703  |
| Enzyme 111 Chromosome Location |
1 |
| Enzyme 111 Locus |
11p14.3 |
| Enzyme 111 SNPs |
SNPJam Report  |
| Enzyme 111 General References |
- Aihara Y, Mashima H, Onda H, Hisano S, Kasuya H, Hori T, Yamada S, Tomura H, Yamada Y, Inoue I, Kojima I, Takeda J: Molecular cloning of a novel brain-type Na(+)-dependent inorganic phosphate cotransporter. J Neurochem. 2000 Jun;74(6):2622-5. [PubMed
]
- Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E, Chang JL, Cuomo CA, Eichler E, FitzGerald MG, Jaffe DB, LaButti K, Nicol R, Park HS, Seaman C, Sougnez C, Yang X, Zimmer AR, Zody MC, Birren BW, Nusbaum C, Fujiyama A, Hattori M, Rogers J, Lander ES, Sakaki Y: Human chromosome 11 DNA sequence and analysis including novel gene identification. Nature. 2006 Mar 23;440(7083):497-500. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Takamori S, Rhee JS, Rosenmund C, Jahn R: Identification of differentiation-associated brain-specific phosphate transporter as a second vesicular glutamate transporter (VGLUT2). J Neurosci. 2001 Nov 15;21(22):RC182. [PubMed
]
- Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE: The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314(5797):268-74. Epub 2006 Sep 7. [PubMed
]
|
| Enzyme 111 Metabolite References |
Not Available |
|
Enzyme 112
[top]
|
| Enzyme 112 ID |
9535 |
| Enzyme 112 Name |
Vesicular glutamate transporter 1 |
| Enzyme 112 Synonyms |
- VGluT1
- Brain-specific Na(+)-dependent inorganic phosphate cotransporter
- Solute carrier family 17 member 7
|
| Enzyme 112 Gene Name |
SLC17A7 |
| Enzyme 112 Protein Sequence |
>Vesicular glutamate transporter 1
MEFRQEEFRKLAGRALGKLHRLLEKRQEGAETLELSADGRPVTTQTRDPPVVDCTCFGLP
RRYIIAIMSGLGFCISFGIRCNLGVAIVSMVNNSTTHRGGHVVVQKAQFSWDPETVGLIH
GSFFWGYIVTQIPGGFICQKFAANRVFGFAIVATSTLNMLIPSAARVHYGCVIFVRILQG
LVEGVTYPACHGIWSKWAPPLERSRLATTAFCGSYAGAVVAMPLAGVLVQYSGWSSVFYV
YGSFGIFWYLFWLLVSYESPALHPSISEEERKYIEDAIGESAKLMNPLTKFSTPWRRFFT
SMPVYAIIVANFCRSWTFYLLLISQPAYFEEVFGFEISKVGLVSALPHLVMTIIVPIGGQ
IADFLRSRRIMSTTNVRKLMNCGGFGMEATLLLVVGYSHSKGVAISFLVLAVGFSGFAIS
GFNVNHLDIAPRYASILMGISNGVGTLSGMVCPIIVGAMTKHKTREEWQYVFLIASLVHY
GGVIFYGVFASGEKQPWAEPEEMSEEKCGFVGHDQLAGSDDSEMEDEAEPPGAPPAPPPS
YGATHSTFQPPRPPPPVRDY
|
| Enzyme 112 Number of Residues |
560 |
| Enzyme 112 Molecular Weight |
61612.8 |
| Enzyme 112 Theoretical pI |
7.51 |
| Enzyme 112 GO Classification |
| Function |
| — |
| Process |
- establishment of localization
- transmembrane transport
- transport
|
| Component |
| — |
|
| Enzyme 112 General Function |
Involved in transmembrane transport |
| Enzyme 112 Specific Function |
Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. May also mediate the transport of inorganic phosphate |
| Enzyme 112 Pathways |
Not Available |
| Enzyme 112 Reactions |
Not Available |
| Enzyme 112 Pfam Domain Function |
|
| Enzyme 112 Signals |
|
| Enzyme 112 Transmembrane Regions |
- 64-84
117-137
141-161
170-190
209-229
237-257
303-323
342-362
379-399
402-422
436-456
470-490
|
| Enzyme 112 Essentiality |
Not Available |
| Enzyme 112 GenBank ID Protein |
7328925  |
| Enzyme 112 UniProtKB/Swiss-Prot ID |
Q9P2U7  |
| Enzyme 112 UniProtKB/Swiss-Prot Entry Name |
VGLU1_HUMAN  |
| Enzyme 112 PDB ID |
Not Available |
| Enzyme 112 Cellular Location |
Not Available |
| Enzyme 112 Gene Sequence |
>1683 bp
ATGGAGTTCCGCCAGGAGGAGTTTCGGAAGCTAGCGGGTCGTGCTCTCGGGAAGCTGCAC
CGCCTTCTGGAGAAGCGGCAGGAAGGCGCGGAGACGCTGGAGCTGAGTGCGGATGGGCGC
CCGGTGACCACGCAGACCCGGGACCCGCCGGTGGTGGACTGCACCTGCTTCGGCCTCCCT
CGCCGCTACATTATCGCCATCATGAGTGGTCTGGGCTTCTGCATCAGCTTTGGCATCCGC
TGCAACCTGGGCGTGGCCATCGTCTCCATGGTCAATAACAGCACGACCCACCGCGGGGGC
CACGTGGTGGTGCAGAAAGCCCAGTTCAGCTGGGATCCAGAGACTGTCGGCCTCATACAC
GGCTCCTTTTTCTGGGGCTACATTGTCACTCAGATTCCAGGAGGATTTATCTGTCAAAAA
TTTGCAGCCAACAGAGTTTTCGGCTTTGCTATTGTGGCAACATCCACTCTAAACATGCTG
ATCCCCTCAGCTGCCCGCGTCCACTATGGCTGTGTCATCTTCGTGAGGATCCTGCAGGGG
TTGGTAGAGGGGGTCACATACCCCGCCTGCCATGGGATCTGGAGCAAATGGGCCCCACCC
TTAGAACGGAGTCGCCTGGCGACGACAGCCTTTTGTGGTTCCTATGCTGGGGCGGTGGTC
GCGATGCCCCTCGCCGGGGTCCTTGTGCAGTACTCAGGATGGAGCTCTGTTTTCTACGTC
TACGGCAGCTTCGGGATCTTCTGGTACCTGTTCTGGCTGCTCGTCTCCTACGAGTCCCCC
GCGCTGCACCCCAGCATCTCGGAGGAGGAGCGCAAGTACATCGAGGACGCCATCGGAGAG
AGCGCGAAACTCATGAACCCCCTCACGAAGTTTAGCACTCCCTGGCGGCGCTTCTTCACG
TCTATGCCAGTCTATGCCATCATCGTGGCCAACTTCTGCCGCAGCTGGACGTTCTACCTG
CTGCTCATCTCCCAGCCCGCCTACTTCGAAGAAGTGTTCGGCTTCGAGATCAGCAAGGTA
GGCCTGGTGTCCGCGCTGCCCCACCTGGTCATGACCATCATCGTGCCCATCGGCGGCCAG
ATCGCGGACTTCCTGCGGAGCCGCCGCATCATGTCCACCACCAACGTGCGCAAGTTGATG
AACTGCGGAGGCTTCGGCATGGAAGCCACGCTGCTGTTGGTGGTCGGCTACTCGCACTCC
AAGGGCGTGGCCATCTCCTTCCTGGTCCTAGCCGTGGGCTTCAGCGGCTTCGCCATCTCT
GGGTTCAACGTGAACCACCTGGACATAGCCCCGCGCTACGCCAGCATCCTCATGGGCATC
TCCAACGGCGTGGGCACACTGTCGGGCATGGTGTGCCCCATCATCGTGGGGGCCATGACT
AAGCACAAGACTCGGGAGGAGTGGCAGTACGTGTTCCTAATTGCCTCCCTGGTGCACTAT
GGAGGTGTCATCTTCTACGGGGTCTTTGCTTCTGGAGAGAAGCAGCCGTGGGCAGAGCCT
GAGGAGATGAGCGAGGAGAAGTGTGGCTTCGTTGGCCATGACCAGCTGGCTGGCAGTGAC
GACAGCGAAATGGAGGATGAGGCTGAGCCCCCGGGGGCACCCCCTGCACCCCCGCCCTCC
TATGGGGCCACACACAGCACATTTCAGCCCCCCAGGCCCCCACCCCCTGTCCGGGACTAC
TGA
|
| Enzyme 112 GenBank Gene ID |
AB032436  |
| Enzyme 112 GeneCard ID |
SLC17A7  |
| Enzyme 112 GenAtlas ID |
SLC17A7  |
| Enzyme 112 HGNC ID |
HGNC:16704  |
| Enzyme 112 Chromosome Location |
1 |
| Enzyme 112 Locus |
19q13 |
| Enzyme 112 SNPs |
SNPJam Report  |
| Enzyme 112 General References |
- Aihara Y, Mashima H, Onda H, Hisano S, Kasuya H, Hori T, Yamada S, Tomura H, Yamada Y, Inoue I, Kojima I, Takeda J: Molecular cloning of a novel brain-type Na(+)-dependent inorganic phosphate cotransporter. J Neurochem. 2000 Jun;74(6):2622-5. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
|
| Enzyme 112 Metabolite References |
Not Available |
|
Enzyme 113
[top]
|
| Enzyme 113 ID |
10838 |
| Enzyme 113 Name |
Sodium-independent sulfate anion transporter |
| Enzyme 113 Synonyms |
- Solute carrier family 26 member 11
|
| Enzyme 113 Gene Name |
SLC26A11 |
| Enzyme 113 Protein Sequence |
>Sodium-independent sulfate anion transporter
MPSSVTALGQARSSGPGMAPSACCCSPAALQRRLPILAWLPSYSLQWLKMDFVAGLSVGL
TAIPQALAYAEVAGLPPQYGLYSAFMGCFVYFFLGTSRDVTLGPTAIMSLLVSFYTFHEP
AYAVLLAFLSGCIQLAMGVLRLGFLLDFISYPVIKGFTSAAAVTIGFGQIKNLLGLQNIP
RPFFLQVYHTFLRIAETRVGDAVLGLVCMLLLLVLKLMRDHVPPVHPEMPPGVRLSRGLV
WAATTARNALVVSFAALVAYSFEVTGYQPFILTGETAEGLPPVRIPPFSVTTANGTISFT
EMVQDMGAGLAVVPLMGLLESIAVAKAFASQNNYRIDANQELLAIGLTNMLGSLVSSYPV
TGSFGRTAVNAQSGVCTPAGGLVTGVLVLLSLDYLTSLFYYIPKSALAAVIIMAVAPLFD
TKIFRTLWRVKRLDLLPLCVTFLLCFWEVQYGILAGALVSLLMLLHSAARPETKVSEGPV
LVLQPASGLSFPAMEALREEILSRALEVSPPRCLVLECTHVCSIDYTVVLGLGELLQDFQ
KQGVALAFVGLQVPVLRVLLSADLKGFQYFSTLEEAEKHLRQEPGTQPYNIREDSILDQK
VALLKA
|
| Enzyme 113 Number of Residues |
606 |
| Enzyme 113 Molecular Weight |
65298.3 |
| Enzyme 113 Theoretical pI |
7.35 |
| Enzyme 113 GO Classification |
| Function |
- anion transmembrane transporter activity
- inorganic anion transmembrane transporter activity
- ion transmembrane transporter activity
- secondary active sulfate transmembrane transporter activity
- substrate-specific transmembrane transporter activity
- sulfate transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- anion transport
- establishment of localization
- inorganic anion transport
- ion transport
- sulfate transport
- transmembrane transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 113 General Function |
Involved in secondary active sulfate transmembrane transporter activity |
| Enzyme 113 Specific Function |
Exhibits sodium-independent sulfate anion transporter activity that may cooperate with SLC26A2 to mediate DIDS-sensitive sulfate uptake into high endothelial venules endothelial cells (HEVEC) |
| Enzyme 113 Pathways |
Not Available |
| Enzyme 113 Reactions |
Not Available |
| Enzyme 113 Pfam Domain Function |
|
| Enzyme 113 Signals |
|
| Enzyme 113 Transmembrane Regions |
- 52-72
74-94
101-117
120-140
148-168
198-218
251-271
308-328
342-362
375-395
399-419
442-462
|
| Enzyme 113 Essentiality |
Not Available |
| Enzyme 113 GenBank ID Protein |
29243004  |
| Enzyme 113 UniProtKB/Swiss-Prot ID |
Q86WA9  |
| Enzyme 113 UniProtKB/Swiss-Prot Entry Name |
S2611_HUMAN  |
| Enzyme 113 PDB ID |
Not Available |
| Enzyme 113 Cellular Location |
Not Available |
| Enzyme 113 Gene Sequence |
>1821 bp
ATGCCTTCTTCGGTGACGGCGCTGGGTCAGGCCAGGTCCTATGGCCCCGGGATGGCCCCG
AGCGCCTGCTGCTGCTCCCCTGCGGCCCTGCAGAGGAGGCTGCCCATCCTGGCGTGGCTG
CCCAGCTACTCCCTGCAGTGGCTGAAGATGGATTTCGTCGCCGGCCTCTCAGTTGGCCTC
ACTGCCATTCCCCAGGCGCTGGCCTATGCTGAAGTGGCTGGACTCCCGCCCCAGTATGGC
CTCTACTCTGCCTTCATGGGCTGCTTCGTGTATTTCTTCCTGGGCACCTCCCGGGATGTG
ACTCTGGGCCCCACCGCCATTATGTCCCTCCTGGTCTCCTTCTACACCTTCCATGAGCCC
GCCTACGCTGTGCTGCTGGCCTTCCTGTCCGGCTGCATCCAGCTGGCCATGGGGGTCCTG
CGTTTGGGGTTCCTGCTGGACTTCATTTCCTACCCCGTCATTAAAGGCTTCACCTCTGCT
GCTGCCGTCACCATCGGCTTTGGACAGATCAAGAACCTGCTGGGACTACAGAACATCCCC
AGGCCGTTCTTCCTGCAGGTGTACCACACCTTCCTCAGGATTGCAGAGACCAGGGTAGGT
GACGCCGTCCTGGGGCTGGTCTGCATGCTGCTGCTGCTGGTGCTGAAGCTGATGCGGGAC
CACGTGCCTCCCGTCCACCCCGAGATGCCCCCTGGTGTGCGGCTCAGCCGTGGGCTGGTC
TGGGCTGCCACGACAGCTCGCAACGCCCTGGTGGTCTCCTTCGCAGCCCTGGTTGCGTAC
TCCTTCGAGGTGACTGGATACCAGCCTTTCATCCTAACAGGGGAGACAGCTGAGGGGCTC
CCTCCAGTCCGGATCCCGCCCTTCTCAGTGACCACAGCCAACGGGACGATCTCCTTCACC
GAGATGGTGCAGGACATGGGAGCCGGGCTGGCCGTGGTGCCCCTGATGGGCCTCATGGAG
AGCATTGCGGTGGCCAAAGCCTTCGCATCTCAGGATAATTACCGCATCGATGCCAACCAG
GAGCTGCTGGCCATCGGTCTCACCAACATGTTGGGCTCCCTCGTCTCCTCCTACCCGGTC
ACAGGCAGCTTTGGACGGACAGCCGTGAACGCTCAGTCGGGGGTGTGCACCCCGGCGGGG
GGCCTGGTGACGGGAGTGCTGGTGCTGCTGTCTCTGGACTACCTGACCTCACTGTTCTAC
TACATCCCCAAGTCTGCCCTGGCTGCCGTCATCATCATGGCCGTGGCCCCGCTGTTCGAC
ACCAAGATCTTCAGGACGCTCTGGCGTGTTAAGAGGCTGGACCTGCTGCCCCTGTGCGTG
ACCTTCCTGCTGTGCTTCTGGGAGGTGCAGTACGGCATCCTGGCCGGGGCCCTGGTGTCT
CTGCTCATGCTCCTGCACTCTGCAGCCAGGCCTGAGACCAAGGTGTCAGAGGGGCCGGTT
CTGGTCCTGCAGCCGGCCAGCGGCCTGTCCTTCCCTGCCATGGAGGCTCTGCGGGAGGAG
ATCCTAAGCCGGGCCCTGGAAGTGTCCCCGCCACGCTGCCTGGTCCTGGAGTGCACCCAT
GTCTGCAGCATCGACTACACTGTGGTGCTGGGACTCGGCGAGCTCCTCCAGGACTTCCAG
AAGCAGGGCGTCGCCCTGGCCTTTGTGGGCCTGCAGGTCCCCGTTCTCCGTGTCCTGCTG
TCCGCTGACCTGAAGGGGTTCCAGTACTTCTCTACCCTGGAAGAAGCAGAGAAGCACCTG
AGGCAGGAGCCAGGGACCCAGCCCTACAACATCAGAGAAGACTCCATTCTGGACCAAAAG
GTTGCCCTGCTCAAGGCATAA
|
| Enzyme 113 GenBank Gene ID |
AJ544073  |
| Enzyme 113 GeneCard ID |
SLC26A11  |
| Enzyme 113 GenAtlas ID |
SLC26A11  |
| Enzyme 113 HGNC ID |
HGNC:14471  |
| Enzyme 113 Chromosome Location |
1 |
| Enzyme 113 Locus |
17q25.3 |
| Enzyme 113 SNPs |
SNPJam Report  |
| Enzyme 113 General References |
- Vincourt JB, Jullien D, Amalric F, Girard JP: Molecular and functional characterization of SLC26A11, a sodium-independent sulfate transporter from high endothelial venules. FASEB J. 2003 May;17(8):890-2. Epub 2003 Mar 5. [PubMed
]
- Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J, Wakamatsu A, Kimura K, Sakamoto K, Hatano N, Kawai Y, Ishii S, Saito K, Kojima S, Sugiyama T, Ono T, Okano K, Yoshikawa Y, Aotsuka S, Sasaki N, Hattori A, Okumura K, Nagai K, Sugano S, Isogai T: Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. DNA Res. 2005;12(2):117-26. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Lohi H, Kujala M, Kerkela E, Saarialho-Kere U, Kestila M, Kere J: Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger. Genomics. 2000 Nov 15;70(1):102-12. [PubMed
]
|
| Enzyme 113 Metabolite References |
Not Available |
|
Enzyme 114
[top]
|
| Enzyme 114 ID |
10843 |
| Enzyme 114 Name |
Anion exchange transporter |
| Enzyme 114 Synonyms |
- Solute carrier family 26 member 7
|
| Enzyme 114 Gene Name |
SLC26A7 |
| Enzyme 114 Protein Sequence |
>Anion exchange transporter
MTGAKRKKKSMLWSKMHTPQCEDIIQWCRRRLPILDWAPHYNLKENLLPDTVSGIMLAVQ
QVTQGLAFAVLSSVHPVFGLYGSLFPAIIYAIFGMGHHVATGTFALTSLISANAVERIVP
QNMQNLTTQSNTSVLGLSDFEMQRIHVAAAVSFLGGVIQVAMFVLQLGSATFVVTEPVIS
AMTTGAATHVVTSQVKYLLGMKMPYISGPLGFFYIYAYVFENIKSVRLEALLLSLLSIVV
LVLVKELNEQFKRKIKVVLPVDLVLIIAASFACYCTNMENTYGLEVVGHIPQGIPSPRAP
PMNILSAVITEAFGVALVGYVASLALAQGSAKKFKYSIDDNQEFLAHGLSNIVSSFFFCI
PSAAAMGRTAGLYSTGAKTQVACLISCIFVLIVIYAIGPLLYWLPMCVLASIIVVGLKGM
LIQFRDLKKYWNVDKIDWGIWVSTYVFTICFAANVGLLFGVVCTIAIVIGRFPRAMTVSI
KNMKEMEFKVKTEMDSETLQQVKIISINNPLVFLNAKKFYTDLMNMIQKENACNQPLDDI
SKCEQNTLLNSLSNGNCNEEASQSCPNEKCYLILDCSGFTFFDYSGVSMLVEVYMDCKGR
SVDVLLAHCTASLIKAMTYYGNLDSEKPIFFESVSAAISHIHSNKNLSKLSDHSEV
|
| Enzyme 114 Number of Residues |
656 |
| Enzyme 114 Molecular Weight |
72212.2 |
| Enzyme 114 Theoretical pI |
7.96 |
| Enzyme 114 GO Classification |
| Function |
|
| Process |
- establishment of localization
- transmembrane transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane part
|
|
| Enzyme 114 General Function |
Involved in transporter activity |
| Enzyme 114 Specific Function |
Acts as a sodium-independent DIDS-sensitive anion exchanger mediating bicarbonate, chloride, sulfate and oxalate transport. May play a role in the maintenance of the electrolyte and acid-base homeostasis in the kidney, by acting as a distal excretory segment-specific anion exchanger. Plays a major role in gastric acid secretion |
| Enzyme 114 Pathways |
Not Available |
| Enzyme 114 Reactions |
Not Available |
| Enzyme 114 Pfam Domain Function |
|
| Enzyme 114 Signals |
|
| Enzyme 114 Transmembrane Regions |
- 76-96
145-165
167-187
203-223
228-248
255-275
307-327
344-364
384-404
405-425
449-469
|
| Enzyme 114 Essentiality |
Not Available |
| Enzyme 114 GenBank ID Protein |
15341552  |
| Enzyme 114 UniProtKB/Swiss-Prot ID |
Q8TE54  |
| Enzyme 114 UniProtKB/Swiss-Prot Entry Name |
S26A7_HUMAN  |
| Enzyme 114 PDB ID |
Not Available |
| Enzyme 114 Cellular Location |
Not Available |
| Enzyme 114 Gene Sequence |
>1971 bp
ATGACAGGAGCAAAGAGGAAAAAGAAAAGCATGCTTTGGAGCAAGATGCATACCCCCCAG
TGTGAAGACATTATACAGTGGTGTAGAAGGCGACTGCCCATTTTGGATTGGGCACCACAT
TACAATCTGAAAGAAAACTTGCTTCCAGACACTGTGTCTGGGATAATGTTGGCAGTTCAA
CAGGTGACCCAAGGATTGGCCTTTGCTGTTCTCTCATCTGTGCACCCAGTGTTTGGTTTA
TATGGGTCTCTGTTTCCTGCCATAATTTATGCCATATTTGGAATGGGACATCATGTTGCC
ACAGGCACCTTTGCCTTGACATCCTTAATATCAGCCAACGCCGTGGAACGGATTGTCCCT
CAGAACATGCAGAATCTCACCACACAGAGTAACACAAGCGTGCTGGGCTTATCCGACTTT
GAAATGCAAAGGATCCACGTTGCTGCAGCAGTTTCCTTCTTGGGAGGTGTGATTCAGGTG
GCCATGTTTGTGCTGCAACTGGGCAGTGCCACATTTGTGGTCACAGAGCCTGTGATCAGC
GCAATGACAACTGGGGCTGCCACCCATGTGGTGACTTCACAAGTCAAATATCTCTTGGGA
ATGAAAATGCCATATATATCCGGACCACTTGGATTCTTTTATATTTATGCATATGTTTTT
GAAAACATCAAGTCTGTGCGACTGGAGGCATTGCTTTTATCCTTGCTGAGCATTGTGGTC
CTTGTTCTTGTTAAAGAGCTGAATGAACAGTTTAAAAGGAAAATTAAAGTTGTTCTTCCT
GTAGATTTAGTTTTGATTATTGCTGCATCATTTGCTTGTTATTGCACCAATATGGAAAAC
ACATATGGATTAGAAGTAGTTGGTCATATTCCACAAGGAATTCCCTCACCTAGAGCTCCC
CCGATGAACATCCTCTCTGCGGTGATCACTGAAGCTTTCGGAGTGGCACTTGTAGGCTAT
GTGGCCTCACTGGCTCTTGCTCAAGGATCTGCCAAAAAATTCAAATATTCAATTGATGAC
AACCAGGAATTTTTGGCCCATGGCCTCAGCAATATAGTTTCTTCATTTTTCTTCTGCATA
CCAAGTGCTGCTGCCATGGGAAGGACGGCTGGCCTGTACAGCACAGGAGCGAAGACACAG
GTGGCTTGTCTAATATCTTGCATTTTCGTCCTTATAGTCATCTATGCAATAGGACCTTTG
CTTTACTGGCTGCCCATGTGTGTCCTTGCAAGCATTATTGTTGTGGGACTGAAGGGAATG
CTAATACAGTTCCGAGATTTAAAAAAATATTGGAATGTGGATAAAATCGATTGGGGAATA
TGGGTCAGTACATATGTATTTACAATATGCTTTGCTGCCAATGTGGGACTGCTGTTTGGT
GTTGTTTGTACCATAGCTATAGTGATAGGACGCTTCCCAAGAGCAATGACTGTAAGTATA
AAAAATATGAAAGAAATGGAATTTAAAGTGAAGACAGAAATGGACAGTGAAACCCTGCAG
CAGGTGAAAATTATCTCAATAAACAACCCGCTTGTTTTCCTGAATGCAAAAAAATTTTAT
ACTGATTTAATGAACATGATCCAAAAGGAAAATGCCTGTAATCAGCCACTTGATGATATC
AGCAAGTGTGAACAAAACACATTGCTTAATTCCCTATCCAATGGCAACTGCAATGAAGAA
GCTTCACAGTCCTGCCCTAATGAGAAGTGTTATTTAATCCTGGATTGCAGTGGATTTACC
TTTTTTGACTATTCTGGAGTCTCCATGCTTGTTGAGGTTTACATGGACTGTAAAGGCAGG
AGTGTGGATGTATTGTTAGCCCATTGTACAGCTTCCTTGATAAAAGCAATGACGTATTAT
GGAAACCTAGACTCAGAGAAACCAATTTTTTTTGAATCGGTATCTGCTGCAATAAGTCAT
ATCCATTCAAATAAGAATTTGAGCAAACTCAGTGACCACAGTGAAGTCTGA
|
| Enzyme 114 GenBank Gene ID |
AF331521  |
| Enzyme 114 GeneCard ID |
SLC26A7  |
| Enzyme 114 GenAtlas ID |
SLC26A7  |
| Enzyme 114 HGNC ID |
HGNC:14467  |
| Enzyme 114 Chromosome Location |
8 |
| Enzyme 114 Locus |
8q23 |
| Enzyme 114 SNPs |
SNPJam Report  |
| Enzyme 114 General References |
- Vincourt JB, Jullien D, Kossida S, Amalric F, Girard JP: Molecular cloning of SLC26A7, a novel member of the SLC26 sulfate/anion transporter family, from high endothelial venules and kidney. Genomics. 2002 Feb;79(2):249-56. [PubMed
]
- Lohi H, Kujala M, Makela S, Lehtonen E, Kestila M, Saarialho-Kere U, Markovich D, Kere J: Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9. J Biol Chem. 2002 Apr 19;277(16):14246-54. Epub 2002 Feb 7. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Petrovic S, Ju X, Barone S, Seidler U, Alper SL, Lohi H, Kere J, Soleimani M: Identification of a basolateral Cl-/HCO3- exchanger specific to gastric parietal cells. Am J Physiol Gastrointest Liver Physiol. 2003 Jun;284(6):G1093-103. [PubMed
]
- Kujala M, Tienari J, Lohi H, Elomaa O, Sariola H, Lehtonen E, Kere J: SLC26A6 and SLC26A7 anion exchangers have a distinct distribution in human kidney. Nephron Exp Nephrol. 2005;101(2):e50-8. Epub 2005 Jun 14. [PubMed
]
- Xu J, Worrell RT, Li HC, Barone SL, Petrovic S, Amlal H, Soleimani M: Chloride/bicarbonate exchanger SLC26A7 is localized in endosomes in medullary collecting duct cells and is targeted to the basolateral membrane in hypertonicity and potassium depletion. J Am Soc Nephrol. 2006 Apr;17(4):956-67. Epub 2006 Mar 8. [PubMed
]
- Kujala M, Hihnala S, Tienari J, Kaunisto K, Hastbacka J, Holmberg C, Kere J, Hoglund P: Expression of ion transport-associated proteins in human efferent and epididymal ducts. Reproduction. 2007 Apr;133(4):775-84. [PubMed
]
|
| Enzyme 114 Metabolite References |
Not Available |
|
Enzyme 115
[top]
|
| Enzyme 115 ID |
10939 |
| Enzyme 115 Name |
Monocarboxylate transporter 10 |
| Enzyme 115 Synonyms |
- MCT 10
- Aromatic amino acid transporter 1
- Solute carrier family 16 member 10
- T-type amino acid transporter 1
|
| Enzyme 115 Gene Name |
SLC16A10 |
| Enzyme 115 Protein Sequence |
>Monocarboxylate transporter 10
MVLSQEEPDSARGTSEAQPLGPAPTGAAPPPGPGPSDSPEAAVEKVEVELAGPATAEPHE
PPEPPEGGWGWLVMLAAMWCNGSVFGIQNACGVLFVSMLETFGSKDDDKMVFKTAWVGSL
SMGMIFFCCPIVSVFTDLFGCRKTAVVGAAVGFVGLMSSSFVSSIEPLYLTYGIIFACGC
SFAYQPSLVILGHYFKKRLGLVNGIVTAGSSVFTILLPLLLRVLIDSVGLFYTLRVLCIF
MFVLFLAGFTYRPLATSTKDKESGGSGSSLFSRKKFSPPKKIFNFAIFKVTAYAVWAVGI
PLALFGYFVPYVHLMKHVNERFQDEKNKEVVLMCIGVTSGVGRLLFGRIADYVPGVKKVY
LQVLSFFFIGLMSMMIPLCSIFGALIAVCLIMGLFDGCFISIMAPIAFELVGAQDVSQAI
GFLLGFMSIPMTVGPPIAGLLRDKLGSYDVAFYLAGVPPLIGGAVLCFIPWIHSKKQREI
SKTTGKEKMEKMLENQNSLLSSSSGMFKKESDSII
|
| Enzyme 115 Number of Residues |
515 |
| Enzyme 115 Molecular Weight |
55492.1 |
| Enzyme 115 Theoretical pI |
7.77 |
| Enzyme 115 GO Classification |
| Function |
| — |
| Process |
- establishment of localization
- transmembrane transport
- transport
|
| Component |
| — |
|
| Enzyme 115 General Function |
Involved in transmembrane transport |
| Enzyme 115 Specific Function |
Sodium-independent transporter that mediates the update of aromatic acid. Can function as a net efflux pathway for aromatic amino acids in the basosolateral epithelial cells |
| Enzyme 115 Pathways |
Not Available |
| Enzyme 115 Reactions |
Not Available |
| Enzyme 115 Pfam Domain Function |
|
| Enzyme 115 Signals |
|
| Enzyme 115 Transmembrane Regions |
- 67-87
115-135
145-165
172-192
201-221
229-249
292-312
330-350
352-372
397-417
420-440
452-472
|
| Enzyme 115 Essentiality |
Not Available |
| Enzyme 115 GenBank ID Protein |
Not Available |
| Enzyme 115 UniProtKB/Swiss-Prot ID |
Q8TF71  |
| Enzyme 115 UniProtKB/Swiss-Prot Entry Name |
MOT10_HUMAN  |
| Enzyme 115 PDB ID |
Not Available |
| Enzyme 115 Cellular Location |
Not Available |
| Enzyme 115 Gene Sequence |
>1548 bp
ATGGTGCTCTCCCAGGAGGAGCCGGACTCCGCGCGGGGCACGAGCGAGGCGCAGCCGCTC
GGCCCCGCGCCCACGGGGGCCGCTCCGCCGCCCGGCCCGGGACCCTCGGACAGCCCCGAG
GCGGCTGTCGAGAAGGTGGAGGTGGAGCTGGCGGGGCCGGCGACCGCGGAGCCCCATGAG
CCCCCCGAACCCCCCGAGGGCGGCTGGGGCTGGCTGGTGATGCTGGCGGCCATGTGGTGC
AACGGGTCGGTGTTCGGCATCCAGAACGCTTGCGGGGTGCTCTTCGTGTCCATGCTGGAA
ACCTTCGGCTCCAAAGACGATGACAAGATGGTCTTTAAGACAGCATGGGTAGGTTCTCTC
TCCATGGGGATGATTTTCTTTTGCTGCCCAATAGTCAGCGTCTTCACAGACCTATTTGGT
TGTCGGAAAACAGCTGTCGTGGGTGCTGCTGTTGGATTTGTTGGGCTCATGTCCAGTTCT
TTTGTAAGTTCCATCGAGCCTCTGTACCTTACCTATGGAATCATATTTGCCTGCGGCTGC
TCCTTTGCATACCAGCCTTCATTGGTCATTTTGGGACACTATTTCAAGAAGCGCCTTGGA
CTGGTGAATGGCATTGTCACTGCTGGCAGCAGTGTCTTCACAATCCTGCTGCCTTTGCTC
TTAAGGGTTCTGATTGACAGCGTGGGCCTCTTTTACACATTGAGGGTGCTCTGCATCTTC
ATGTTTGTTCTCTTTCTGGCTGGCTTTACTTACCGACCTCTTGCTACCAGTACCAAAGAT
AAAGAGAGTGGAGGTAGCGGATCCTCCCTCTTTTCCAGGAAAAAGTTCAGTCCTCCAAAA
AAAATTTTCAATTTTGCCATCTTCAAGGTGACAGCTTATGCAGTGTGGGCAGTTGGAATA
CCACTTGCACTTTTTGGATACTTTGTGCCTTATGTTCACTTGATGAAACATGTAAATGAA
AGATTTCAAGATGAAAAAAATAAAGAGGTTGTTCTCATGTGCATTGGCGTCACTTCAGGA
GTTGGACGACTGCTCTTTGGCCGGATTGCAGATTATGTGCCTGGTGTGAAGAAGGTTTAT
CTACAGGTACTCTCCTTTTTCTTCATTGGTCTGATGTCCATGATGATTCCTCTGTGTAGC
ATCTTTGGGGCCCTCATTGCTGTGTGCCTCATCATGGGTCTCTTCGATGGATGCTTCATT
TCCATTATGGCTCCCATAGCCTTTGAGTTAGTTGGTGCCCAGGATGTCTCCCAAGCAATT
GGATTTCTGCTCGGATTCATGTCTATACCCATGACTGTTGGCCCACCCATTGCAGGGTTA
CTTCGTGACAAACTGGGCTCCTATGATGTGGCATTCTACCTCGCTGGAGTCCCTCCCCTT
ATTGGAGGTGCTGTGCTTTGTTTTATCCCGTGGATCCATAGTAAGAAGCAAAGAGAGATC
AGTAAAACCACTGGAAAAGAAAAGATGGAGAAAATGTTGGAAAACCAGAACTCTCTGCTG
TCAAGTTCATCTGGAATGTTCAAGAAAGAATCTGACTCTATTATTTAA
|
| Enzyme 115 GenBank Gene ID |
AB057445  |
| Enzyme 115 GeneCard ID |
SLC16A10  |
| Enzyme 115 GenAtlas ID |
SLC16A10  |
| Enzyme 115 HGNC ID |
HGNC:17027  |
| Enzyme 115 Chromosome Location |
6 |
| Enzyme 115 Locus |
6q21-q22 |
| Enzyme 115 SNPs |
SNPJam Report  |
| Enzyme 115 General References |
- Kim DK, Kanai Y, Matsuo H, Kim JY, Chairoungdua A, Kobayashi Y, Enomoto A, Cha SH, Goya T, Endou H: The human T-type amino acid transporter-1: characterization, gene organization, and chromosomal location. Genomics. 2002 Jan;79(1):95-103. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L, Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J, Beck S: The DNA sequence and analysis of human chromosome 6. Nature. 2003 Oct 23;425(6960):805-11. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. Anal Chem. 2009 Jun 1;81(11):4493-501. [PubMed
]
|
| Enzyme 115 Metabolite References |
Not Available |
|
Enzyme 116
[top]
|
| Enzyme 116 ID |
11092 |
| Enzyme 116 Name |
Sodium/glucose cotransporter 4 |
| Enzyme 116 Synonyms |
- Na(+)/glucose cotransporter 4
- hSGLT4
- Solute carrier family 5 member 9
|
| Enzyme 116 Gene Name |
SLC5A9 |
| Enzyme 116 Protein Sequence |
>Sodium/glucose cotransporter 4
MSKELAAMGPGASGDGVRTETAPHIALDSRVGLHAYDISVVVIYFVFVIAVGIWSSIRAS
RGTIGGYFLAGRSMSWWPIGASLMSSNVGSGLFIGLAGTGAAGGLAVGGFEWNATWLLLA
LGWVFVPVYIAAGVVTMPQYLKKRFGGQRIQVYMSVLSLILYIFTKISTDIFSGALFIQM
ALGWNLYLSTGILLVVTAVYTIAGGLMAVIYTDALQTVIMVGGALVLMFLGFQDVGWYPG
LEQRYRQAIPNVTVPNTTCHLPRPDAFHILRDPVSGDIPWPGLIFGLTVLATWCWCTDQV
IVQRSLSAKSLSHAKGGSVLGGYLKILPMFFIVMPGMISRALFPDEVGCVDPDVCQRICG
ARVGCSNIAYPKLVMALMPVGLRGLMIAVIMAALMSSLTSIFNSSSTLFTIDVWQRFRRK
STEQELMVVGRVFVVFLVVISILWIPIIQSSNSGQLFDYIQAVTSYLAPPITALFLLAIF
CKRVTEPGAFWGLVFGLGVGLLRMILEFSYPAPACGEVDRRPAVLKDFHYLYFAILLCGL
TAIVIVIVSLCTTPIPEEQLTRLTWWTRNCPLSELEKEAHESTPEISERPAGECPAGGGA
AENSSLGQEQPEAPSRSWGKLLWSWFCGLSGTPEQALSPAEKAALEQKLTSIEEEPLWRH
VCNINAVLLLAINIFLWGYFA
|
| Enzyme 116 Number of Residues |
681 |
| Enzyme 116 Molecular Weight |
74072.3 |
| Enzyme 116 Theoretical pI |
7.10 |
| Enzyme 116 GO Classification |
| Function |
|
| Process |
- establishment of localization
- transmembrane transport
- transport
|
| Component |
|
|
| Enzyme 116 General Function |
Involved in transporter activity |
| Enzyme 116 Specific Function |
Involved in sodium-dependent transport of D-mannose, D- glucose and D-fructose |
| Enzyme 116 Pathways |
Not Available |
| Enzyme 116 Reactions |
Not Available |
| Enzyme 116 Pfam Domain Function |
|
| Enzyme 116 Signals |
|
| Enzyme 116 Transmembrane Regions |
- 37-57
76-98
115-135
158-178
191-211
218-238
276-296
318-338
384-406
428-448
460-480
488-508
531-551
661-681
|
| Enzyme 116 Essentiality |
Not Available |
| Enzyme 116 GenBank ID Protein |
193785962  |
| Enzyme 116 UniProtKB/Swiss-Prot ID |
Q2M3M2  |
| Enzyme 116 UniProtKB/Swiss-Prot Entry Name |
SC5A9_HUMAN  |
| Enzyme 116 PDB ID |
Not Available |
| Enzyme 116 Cellular Location |
Not Available |
| Enzyme 116 Gene Sequence |
>2046 bp
ATGAGCAAGGAGCTGGCAGCAATGGGGCCTGGAGCTTCAGGGGACGGGGTCAGGACTGAG
ACAGCTCCACACATAGCACTGGACTCCAGAGTTGGTCTGCACGCCTACGACATCAGCGTG
GTGGTCATCTACTTTGTCTTCGTCATTGCTGTGGGGATCTGGTCGTCCATCCGTGCAAGT
CGAGGGACCATTGGCGGCTATTTCCTGGCCGGGAGGTCCATGAGCTGGTGGCCAATTGGA
GCATCTCTGATGTCCAGCAATGTGGGCAGTGGCTTGTTCATCGGCCTGGCTGGGACAGGG
GCTGCCGGAGGCCTTGCCGTAGGTGGCTTCGAGTGGAACGCAACCTGGCTGCTCCTGGCC
CTTGGCTGGGTCTTCGTCCCTGTGTACATCGCAGCAGGTGTGGTCACAATGCCGCAGTAT
CTGAAGAAGCGATTTGGGGGCCAGAGGATCCAGGTGTACATGTCTGTCCTGTCTCTCATC
CTCTACATCTTCACCAAGATCTCGACTGACATCTTCTCTGGAGCCCTCTTCATCCAGATG
GCATTGGGCTGGAACCTGTACCTCTCCACAGGGATCCTGCTGGTGGTGACTGCCGTCTAC
ACCATTGCAGGTGGCCTCATGGCCGTGATCTACACAGATGCTCTGCAGACGGTGATCATG
GTAGGGGGAGCCCTGGTCCTCATGTTTCTGGGCTTTCAGGACGTGGGCTGGTACCCAGGC
CTGGAGCAGCGGTACAGGCAGGCCATCCCTAATGTCACAGTCCCCAACACCACCTGTCAC
CTCCCACGGCCCGATGCTTTCCACATGCTTCGGGACCCTGTGAGCGGGGACATCCCTTGG
CCAGGTCTCATTTTCGGGCTCACAGTGCTGGCCACCTGGTGTTGGTGCACAGACCAGGTC
ATTGTGCAGCGGTCTCTCTCGGCCAAGAGTCTGTCTCATGCCAAGGGAGGCTCCGTGCTG
GGGGGCTACCTGAAGATCCTCCCCATGTTCTTCATCGTCATGCCTGGCATGATCAGCCGG
GCCCTGTTCCCAGACGAGGTGGGCTGCGTGGACCCTGATGTCTGCCAAAGAATCTGTGGG
GCCCGAGTGGGATGTTCCAACATTGCCTACCCTAAGTTGGTCATGGCCCTCATGCCTGTT
GGTCTGCGGGGGCTGATGATTGCCGTGATCATGGCCGCTCTCATGAGCTCACTCACCTCC
ATCTTCAACAGCAGCAGCACCCTGTTCACCATTGATGTGTGGCAGCGCTTCCGCAGAAAG
TCAACAGAGCAGGAGCTGATGGTGGTGGGCAGAGTGTTTGTGGTGTTCCTGGTTGTCATC
AGCATCCTCTGGATCCCCATCATCCAAAGCTCCAACAGTGGGCAGCTCTTCGACTACATC
CAGGCTGTCACCAGTTACCTGGCCCCACCCATCACCGCTCTCTTCCTGCTGGCCATCTTC
TGCAAGAGGGTCACAGAGCCCGGAGCTTTCTGGGGCCTCGTGTTTGGCCTGGGAGTGGGG
CTTCTGCGTATGATCCTGGAGTTCTCATACCCAGCGCCAGCCTGTGGGGAGGTGGACCGG
AGGCCAGCAGTGCTGAAGGACTTCCACTACCTGTACTTTGCAATCCTCCTCTGCGGGCTC
ACTGCCATCGTCATTGTCATTGTCAGCCTCTGTACAACTCCCATCCCTGAGGAACAGCTC
ACACGCCTCACATGGTGGACTCGGAACTGCCCCCTCTCTGAGCTGGAGAAGGAGGCCCAC
GAGAGCACACCGGAGATATCCGAGAGGCCAGCCGGGGAGTGCCCTGCAGGAGGTGGAGCG
GCAGAGAACTCGAGCCTGGGCCAGGAGCAGCCTGAAGCCCCAAGCAGGTCCTGGGGAAAG
TTGCTCTGGAGCTGGTTCTGTGGGCTCTCTGGAACACCGGAGCAGGCCCTGAGCCCAGCA
GAGAAGGCTGCGCTAGAACAGAAGCTGACAAGCATTGAGGAGGAGCCACTCTGGAGACAT
GTCTGCAACATCAATGCTGTCCTTTTGCTGGCCATCAACATCTTCCTCTGGGGCTATTTT
GCGTGA
|
| Enzyme 116 GenBank Gene ID |
AK131200  |
| Enzyme 116 GeneCard ID |
SLC5A9  |
| Enzyme 116 GenAtlas ID |
SLC5A9  |
| Enzyme 116 HGNC ID |
HGNC:22146  |
| Enzyme 116 Chromosome Location |
1 |
| Enzyme 116 Locus |
1p33 |
| Enzyme 116 SNPs |
SNPJam Report  |
| Enzyme 116 General References |
- Tazawa S, Yamato T, Fujikura H, Hiratochi M, Itoh F, Tomae M, Takemura Y, Maruyama H, Sugiyama T, Wakamatsu A, Isogai T, Isaji M: SLC5A9/SGLT4, a new Na+-dependent glucose transporter, is an essential transporter for mannose, 1,5-anhydro-D-glucitol, and fructose. Life Sci. 2005 Jan 14;76(9):1039-50. [PubMed
]
- Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C, Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K, Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C, Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G, Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V, Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M, Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J, French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM, Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD, Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S, Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S, Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K, Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G, Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL, Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z, Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R, Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S, Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD, Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF, Pandian RD, Porter KM, Prigmore E: The DNA sequence and biological annotation of human chromosome 1. Nature. 2006 May 18;441(7091):315-21. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
|
| Enzyme 116 Metabolite References |
Not Available |
|
Enzyme 117
[top]
|
| Enzyme 117 ID |
11147 |
| Enzyme 117 Name |
Large neutral amino acids transporter small subunit 4 |
| Enzyme 117 Synonyms |
- L-type amino acid transporter 4
- Solute carrier family 43 member 2
|
| Enzyme 117 Gene Name |
SLC43A2 |
| Enzyme 117 Protein Sequence |
>Large neutral amino acids transporter small subunit 4
MAPTLATAHRRRWWMACTAVLENLLFSAVLLGWGSLLIMLKSEGFYSYLCTEPENVTNGT
VGGTAEPGHEEVSWMNGWLSCQAQDEMLNLAFTVGSFLLSAITLPLGIVMDKYGPRKLRL
LGSACFAVSCLLIAYGASKPNALSVLIFIALALNGFGGMCMTFTSLTLPNMFGDLRSTFI
ALMIGSYASSAVTFPGIKLIYDAGVSFIVVLVVWAGCSGLVFLNCFFNWPLEPFPGPEDM
DYSVKIKFSWLGFDHKITGKQFYKQVTTVGRRLSVGSSMRSAKEQVALQEGHKLCLSTVD
LEVKCQPDAAVAPSFMHSVFSPILLLSLVTMCVTQLRLIFYMGAMNNILKFLVSGDQKTV
GLYTSIFGVLQLLCLLTAPVIGYIMDWRLKECEDASEEPEEKDANQGEKKKKKRDRQIQK
ITNAMRAFAFTNLLLVGFGVTCLIPNLPLQILSFILHTIVRGFIHSAVGGLYAAVYPSTQ
FGSLTGLQSLISALFALLQQPLFLAMMGPLQGDPLWVNVGLLLLSLLGFCLPLYLICYRR
QLERQLQQRQEDDKLFLKINGSSNQEAFV
|
| Enzyme 117 Number of Residues |
569 |
| Enzyme 117 Molecular Weight |
62746.3 |
| Enzyme 117 Theoretical pI |
8.00 |
| Enzyme 117 GO Classification |
| Function |
| — |
| Process |
- establishment of localization
- transmembrane transport
- transport
|
| Component |
| — |
|
| Enzyme 117 General Function |
Involved in transmembrane transport |
| Enzyme 117 Specific Function |
Sodium-, chloride, pH-independent high affinity transport of large neutral amino acids |
| Enzyme 117 Pathways |
Not Available |
| Enzyme 117 Reactions |
Not Available |
| Enzyme 117 Pfam Domain Function |
|
| Enzyme 117 Signals |
|
| Enzyme 117 Transmembrane Regions |
- 20-40
90-110
120-140
143-163
177-197
203-223
323-345
365-385
435-455
462-482
490-510
516-536
|
| Enzyme 117 Essentiality |
Not Available |
| Enzyme 117 GenBank ID Protein |
22748751  |
| Enzyme 117 UniProtKB/Swiss-Prot ID |
Q8N370  |
| Enzyme 117 UniProtKB/Swiss-Prot Entry Name |
LAT4_HUMAN  |
| Enzyme 117 PDB ID |
Not Available |
| Enzyme 117 Cellular Location |
Not Available |
| Enzyme 117 Gene Sequence |
>1710 bp
ATGGCGCCCACCCTGGCCACTGCCCATCGGCGCCGCTGGTGGATGGCCTGCACGGCCGTG
CTGGAGAACCTCCTCTTCTCGGCAGTCCTCCTGGGCTGGGGCTCGCTGCTCATCATGCTC
AAGTCAGAGGGCTTTTACTCCTACCTGTGTACCGAGCCAGAGAATGTCACCAATGGCACA
GTGGGCGGCACAGCAGAGCCGGGGCACGAGGAGGTGAGCTGGATGAACGGCTGGCTCAGC
TGCCAGGCCCAGGACGAGATGCTAAATTTGGCCTTCACTGTGGGCTCCTTTCTGCTCAGT
GCCATCACCCTGCCCCTGGGTATCGTCATGGACAAGTATGGCCCGAGGAAGCTCAGGCTG
CTGGGCAGCGCCTGCTTCGCGGTTTCCTGCTTGCTGATTGCGTACGGAGCAAGTAAACCA
AACGCTCTCTCCGTGCTCATCTTCATCGCCCTGGCTCTGAATGGCTTTGGTGGGATGTGT
ATGACCTTCACCTCATTAACACTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATT
GCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGCTCATC
TATGATGCTGGTGTCTCCTTCATCGTCGTCCTCGTGGTCTGGGCCGGCTGCTCCGGGCTG
GTTTTCCTCAACTGCTTCTTTAACTGGCCCCTTGAGCCCTTCCCGGGGCCGGAGGACATG
GACTACTCGGTGAAGATCAAGTTCAGCTGGCTGGGCTTTGACCACAAGATCACAGGGAAG
CAGTTCTACAAGCAGGTGACCACGGTGGGCCGGCGCCTGAGTGTGGGCAGCTCCATGAGG
AGTGCCAAGGAGCAGGTGGCGCTGCAGGAGGGCCACAAGCTGTGCCTGTCCACCGTCGAC
CTGGAGGTGAAGTGCCAGCCGGATGCCGCAGTGGCCCCCTCCTTCATGCACAGCGTGTTC
AGCCCCATCCTGCTGCTCAGCCTGGTCACCATGTGCGTCACGCAGCTGCGGCTCATCTTC
TACATGGGGGCTATGAACAACATCCTCAAGTTCCTGGTCAGCGGCGACCAGAAGACAGTT
GGCCTCTACACCTCCATCTTCGGCGTGCTCCAGCTGCTGTGCCTGCTGACGGCCCCCGTC
ATTGGCTACATCATGGACTGGAGGCTGAAGGAGTGTGAAGACGCCTCCGAGGAGCCCGAG
GAGAAAGACGCCAACCAAGGCGAGAAGAAAAAGAAGAAGCGGGACCGGCAGATCCAGAAG
ATCACTAATGCCATGCGGGCCTTCGCCTTCACCAACCTGCTGCTCGTGGGCTTTGGGGTG
ACCTGCCTCATTCCCAACCTGCCTCTCCAGATCCTCTCCTTCATCCTGCACACAATCGTG
CGAGGATTCATCCACTCCGCTGTCGGGGGCCTGTACGCTGCCGTGTACCCCTCCACCCAG
TTCGGCAGCCTCACGGGACTGCAGTCTCTGATCAGCGCGCTCTTCGCCCTTCTGCAGCAG
CCGCTGTTTCTGGCCATGATGGGTCCTCTCCAGGGAGACCCTCTGTGGGTGAACGTGGGG
CTGCTCCTTCTCAGCCTGCTGGGCTTCTGCCTCCCGCTCTACCTGATCTGCTACCGGCGC
CAGCTGGAGCGGCAGCTGCAGCAGAGGCAGGAGGATGACAAACTCTTCCTCAAAATCAAC
GGCTCGTCCAACCAGGAGGCCTTCGTGTAG
|
| Enzyme 117 GenBank Gene ID |
NM_152346.1  |
| Enzyme 117 GeneCard ID |
SLC43A2  |
| Enzyme 117 GenAtlas ID |
SLC43A2  |
| Enzyme 117 HGNC ID |
HGNC:23087  |
| Enzyme 117 Chromosome Location |
1 |
| Enzyme 117 Locus |
17p13.3 |
| Enzyme 117 SNPs |
SNPJam Report  |
| Enzyme 117 General References |
- Bodoy S, Martin L, Zorzano A, Palacin M, Estevez R, Bertran J: Identification of LAT4, a novel amino acid transporter with system L activity. J Biol Chem. 2005 Mar 25;280(12):12002-11. Epub 2005 Jan 19. [PubMed
]
- Wan D, Gong Y, Qin W, Zhang P, Li J, Wei L, Zhou X, Li H, Qiu X, Zhong F, He L, Yu J, Yao G, Jiang H, Qian L, Yu Y, Shu H, Chen X, Xu H, Guo M, Pan Z, Chen Y, Ge C, Yang S, Gu J: Large-scale cDNA transfection screening for genes related to cancer development and progression. Proc Natl Acad Sci U S A. 2004 Nov 2;101(44):15724-9. Epub 2004 Oct 21. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. Epub 2008 Jul 31. [PubMed
]
|
| Enzyme 117 Metabolite References |
Not Available |
|
Enzyme 118
[top]
|
| Enzyme 118 ID |
11245 |
| Enzyme 118 Name |
Electroneutral sodium bicarbonate exchanger 1 |
| Enzyme 118 Synonyms |
- Electroneutral Na(+)-driven Cl-HCO3 exchanger
- Solute carrier family 4 member 8
- k-NBC3
|
| Enzyme 118 Gene Name |
SLC4A8 |
| Enzyme 118 Protein Sequence |
>Electroneutral sodium bicarbonate exchanger 1
MPAAGSNEPDGVLSYQRPDEEAVVDQGGTSTILNIHYEKEELEGHRTLYVGVRMPLGRQS
HRHHRTHGQKHRRRGRGKGASQGEEGLEALAHDTPSQRVQFILGTEEDEEHVPHELFTEL
DEICMKEGEDAEWKETARWLKFEEDVEDGGERWSKPYVATLSLHSLFELRSCLINGTVLL
DMHANSIEEISDLILDQQELSSDLNDSMRVKVREALLKKHHHQNEKKRNNLIPIVRSFAE
VGKKQSDPHLMDKHGQTVSPQSVPTTNLEVKNGVNCEHSPVDLSKVDLHFMKKIPTGAEA
SNVLVGEVDILDRPIVAFVRLSPAVLLSGLTEVPIPTRFLFILLGPVGKGQQYHEIGRSM
ATIMTDEIFHDVAYKAKERDDLLAGIDEFLDQVTVLPPGEWDPSIRIEPPKNVPSQEKRK
MPGVPNGNVCHIEQEPHGGHSGPELQRTGRLFGGLVLDIKRKAPWYWSDYRDALSLQCLA
SFLFLYCACMSPVITFGGLLGEATEGRISAIESLFGASMTGIAYSLFAGQALTILGSTGP
VLVFEKILFKFCKDYALSYLSLRACIGLWTAFLCIVLVATDASSLVCYITRFTEEAFASL
ICIIFIYEAIEKLIHLAETYPIHMHSQLDHLSLYYCRCTLPENPNNHTLQYWKDHNIVTA
EVHWANLTVSECQEMHGEFMGSACGHHGPYTPDVLFWSCILFFTTFILSSTLKTFKTSRY
FPTRVRSMVSDFAVFLTIFTMVIIDFLIGVPSPKLQVPSVFKPTRDDRGWIINPIGPNPW
WTVIAAIIPALLCTILIFMDQQITAVIINRKEHKLKKGCGYHLDLLMVAIMLGVCSIMGL
PWFVAATVLSITHVNSLKLESECSAPGEQPKFLGIREQRVTGLMIFVLMGCSVFMTAILK
FIPMPVLYGVFLYMGVSSLQGIQFFDRLKLFGMPAKHQPDFIYLRHVPLRKVHLFTLIQL
TCLVLLWVIKASPAAIVFPMMVLALVFVRKVMDLCFSKRELSWLDDLMPESKKKKLDDAK
KKAKEEEEAEKMLEIGGDKFPLESRKLLSSPGKNISCRCDPSEINISDEMPKTTVWKALS
MNSGNAKEKSLFN
|
| Enzyme 118 Number of Residues |
1093 |
| Enzyme 118 Molecular Weight |
122936.7 |
| Enzyme 118 Theoretical pI |
6.67 |
| Enzyme 118 GO Classification |
| Function |
- anion transmembrane transporter activity
- anion:anion antiporter activity
- inorganic anion exchanger activity
- ion transmembrane transporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- anion transport
- establishment of localization
- ion transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 118 General Function |
Involved in anion transport |
| Enzyme 118 Specific Function |
Mediates electroneutral sodium- and carbonate-dependent choride-HCO3(-) exchange with a Na(+):HCO3(-) stoichiometry of 2:1. Plays a major role in pH regulation in neurons. May be involved in cell pH regulation by transporting HCO3(-) from blood to cell. Enhanced expression in severe acid stress could be important for cell survival by mediating the influx of HCO3(-) into the cells. Also mediates lithium-dependent HCO3(-) cotransport. May be regulated by osmolarity |
| Enzyme 118 Pathways |
Not Available |
| Enzyme 118 Reactions |
Not Available |
| Enzyme 118 Pfam Domain Function |
|
| Enzyme 118 Signals |
|
| Enzyme 118 Transmembrane Regions |
- 479-499
524-544
566-586
596-616
688-708
732-752
779-799
825-845
882-902
905-925
963-983
|
| Enzyme 118 Essentiality |
Not Available |
| Enzyme 118 GenBank ID Protein |
90403614  |
| Enzyme 118 UniProtKB/Swiss-Prot ID |
Q2Y0W8  |
| Enzyme 118 UniProtKB/Swiss-Prot Entry Name |
S4A8_HUMAN  |
| Enzyme 118 PDB ID |
Not Available |
| Enzyme 118 Cellular Location |
Not Available |
| Enzyme 118 Gene Sequence |
>3282 bp
ATGCCGGCCGCCGGGAGTAACGAGCCGGACGGCGTCCTCAGCTATCAGAGACCAGATGAA
GAAGCTGTGGTGGATCAGGGTGGGACCAGTACAATTCTCAACATTCACTATGAAAAAGAA
GAGCTGGAAGGTCACAGAACTCTGTATGTGGGAGTTCGGATGCCGCTTGGCCGGCAGAGC
CATCGGCATCACCGCACTCATGGCCAGAAGCACCGGAGACGAGGGCGGGGCAAAGGAGCC
AGCCAGGGGGAGGAAGGCCTGGAAGCCCTGGCCCACGACACACCATCTCAGCGTGTTCAG
TTCATTCTTGGCACCGAGGAAGATGAAGAGCATGTGCCTCATGAGCTGTTTACAGAGCTG
GATGAGATCTGTATGAAAGAGGGAGAAGATGCTGAGTGGAAGGAAACAGCCAGGTGGCTG
AAGTTTGAAGAAGATGTTGAAGATGGGGGAGAACGCTGGAGCAAGCCTTATGTGGCAACC
CTTTCATTGCACAGCCTGTTTGAGCTAAGGAGCTGCCTTATTAATGGAACAGTCCTCCTG
GATATGCATGCAAATAGCATAGAAGAAATTTCAGACCTGATCCTGGATCAGCAAGAACTG
TCCAGTGACCTGAATGACAGCATGAGGGTTAAAGTGCGGGAAGCCCTTCTCAAAAAGCAT
CATCATCAGAATGAAAAGAAGAGAAACAACCTCATTCCCATTGTTCGCTCCTTTGCTGAG
GTTGGCAAGAAGCAGTCTGATCCTCATTTGATGGATAAACATGGTCAAACCGTGTCTCCT
CAGTCTGTTCCAACTACAAATCTTGAAGTAAAAAATGGAGTGAATTGTGAACATAGTCCT
GTGGATTTAAGCAAGGTAGACCTTCATTTCATGAAAAAAATTCCTACTGGGGCCGAGGCC
TCCAATGTCCTGGTTGGAGAGGTGGATATTTTGGACCGTCCCATTGTTGCCTTTGTGAGG
CTGTCTCCAGCTGTTCTTCTCTCAGGCCTAACAGAAGTGCCAATCCCAACAAGATTTTTG
TTTATCTTATTGGGTCCAGTAGGGAAAGGTCAGCAGTACCATGAGATTGGCAGATCCATG
GCCACCATCATGACAGATGAGATTTTTCATGACGTAGCATATAAGGCAAAAGAGCGAGAT
GATCTCCTGGCGGGGATTGATGAGTTCCTAGACCAGGTGACGGTGCTCCCTCCAGGAGAG
TGGGATCCCTCCATTAGAATTGAGCCACCCAAAAATGTCCCTTCCCAGGAGAAAAGGAAA
ATGCCTGGAGTTCCAAATGGAAATGTTTGCCACATAGAACAGGAACCACATGGGGGTCAC
AGTGGGCCAGAACTTCAGCGCACTGGGCGGCTATTTGGGGGCTTGGTGCTGGACATCAAG
CGGAAGGCCCCCTGGTACTGGAGCGACTACCGAGATGCACTCAGCTTACAGTGTTTGGCT
TCCTTTCTGTTCCTGTACTGTGCCTGCATGTCACCTGTCATCACCTTTGGGGGACTGCTT
GGAGAAGCCACTGAGGGACGCATAAGTGCAATTGAATCCTTGTTTGGAGCTTCCATGACT
GGGATTGCTTATTCCTTGTTTGCGGGACAGGCTCTCACCATCCTGGGAAGTACTGGACCA
GTGCTTGTGTTTGAAAAGATTTTGTTCAAATTCTGCAAAGACTATGCTCTTTCATACCTC
TCCCTGCGAGCTTGTATTGGACTGTGGACCGCTTTCCTGTGTATTGTCCTTGTGGCAACT
GATGCCAGTTCCCTTGTCTGCTACATTACCCGTTTCACTGAAGAAGCATTTGCCTCCCTA
ATTTGCATTATTTTCATCTATGAAGCAATAGAAAAACTGATTCACCTGGCAGAGACCTAC
CCCATCCACATGCACAGCCAGCTGGACCACCTTAGCCTCTATTACTGCAGGTGTACTCTG
CCAGAGAATCCAAACAATCACACCCTCCAGTACTGGAAGGACCACAACATCGTGACAGCA
GAAGTCCACTGGGCTAACCTGACTGTCAGTGAATGCCAGGAGATGCATGGAGAGTTCATG
GGATCTGCGTGCGGCCATCATGGACCCTACACTCCTGATGTCCTCTTTTGGTCCTGTATT
CTCTTTTTCACCACCTTCATCCTCTCAAGCACCTTAAAGACGTTTAAGACGAGCCGTTAT
TTCCCAACCAGAGTACGCTCCATGGTGAGTGACTTTGCTGTTTTCCTCACTATCTTCACA
ATGGTGATTATTGATTTTTTGATTGGAGTCCCATCACCAAAGCTTCAAGTTCCCAGTGTG
TTCAAGCCAACAAGGGATGATCGCGGATGGATTATTAATCCCATTGGCCCCAATCCCTGG
TGGACTGTGATAGCTGCAATTATCCCAGCTCTTCTCTGTACTATCTTGATATTCATGGAT
CAGCAGATCACAGCCGTCATTATTAACAGGAAGGAACATAAGCTCAAGAAAGGCTGTGGC
TACCACCTGGACCTACTGATGGTGGCCATCATGCTGGGTGTCTGCTCCATCATGGGCCTG
CCCTGGTTTGTAGCTGCAACTGTCTTGTCCATCACACATGTGAACAGCCTCAAGCTAGAA
TCTGAATGCTCTGCTCCTGGAGAACAGCCCAAGTTCCTGGGCATCCGAGAACAGAGAGTG
ACAGGCCTTATGATCTTTGTGCTGATGGGCTGCTCAGTCTTCATGACGGCTATCTTAAAG
TTTATTCCAATGCCAGTACTCTACGGAGTTTTCCTTTACATGGGAGTTTCTTCACTACAG
GGAATTCAGTTCTTTGATCGTCTAAAGCTCTTTGGGATGCCCGCAAAGCACCAGCCAGAT
TTCATCTACCTGCGGCATGTGCCGCTGCGCAAAGTGCACCTCTTCACCCTCATCCAGTTG
ACCTGTCTCGTCCTGCTCTGGGTCATCAAGGCATCTCCAGCTGCCATTGTTTTCCCAATG
ATGGTTTTGGCCTTGGTCTTTGTCAGGAAAGTCATGGATCTCTGTTTCTCTAAGCGAGAG
CTGAGCTGGCTAGATGATCTCATGCCTGAAAGCAAAAAGAAGAAGTTGGATGATGCCAAA
AAGAAGGCCAAGGAGGAAGAGGAGGCTGAGAAAATGTTAGAAATTGGGGGAGACAAGTTT
CCCTTAGAGAGCAGGAAGTTACTAAGTAGTCCTGGAAAGAACATCAGTTGCAGATGTGAC
CCCTCTGAGATTAATATATCTGATGAAATGCCTAAAACTACAGTTTGGAAAGCTCTCAGT
ATGAATTCTGGAAATGCAAAGGAAAAGAGTCTCTTCAACTAA
|
| Enzyme 118 GenBank Gene ID |
NM_001039960.1  |
| Enzyme 118 GeneCard ID |
SLC4A8  |
| Enzyme 118 GenAtlas ID |
SLC4A8  |
| Enzyme 118 HGNC ID |
HGNC:11034  |
| Enzyme 118 Chromosome Location |
1 |
| Enzyme 118 Locus |
12q13.13 |
| Enzyme 118 SNPs |
SNPJam Report  |
| Enzyme 118 General References |
- Grichtchenko II, Choi I, Zhong X, Bray-Ward P, Russell JM, Boron WF: Cloning, characterization, and chromosomal mapping of a human electroneutral Na(+)-driven Cl-HCO3 exchanger. J Biol Chem. 2001 Mar 16;276(11):8358-63. Epub 2000 Dec 27. [PubMed
]
- Nagase T, Ishikawa K, Suyama M, Kikuno R, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O: Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 1998 Oct 30;5(5):277-86. [PubMed
]
- Bechtel S, Rosenfelder H, Duda A, Schmidt CP, Ernst U, Wellenreuther R, Mehrle A, Schuster C, Bahr A, Blocker H, Heubner D, Hoerlein A, Michel G, Wedler H, Kohrer K, Ottenwalder B, Poustka A, Wiemann S, Schupp I: The full-ORF clone resource of the German cDNA Consortium. BMC Genomics. 2007 Oct 31;8:399. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Amlal H, Burnham CE, Soleimani M: Characterization of Na+/HCO-3 cotransporter isoform NBC-3. Am J Physiol. 1999 Jun;276(6 Pt 2):F903-13. [PubMed
]
- Damkier HH, Nielsen S, Praetorius J: Molecular expression of SLC4-derived Na+-dependent anion transporters in selected human tissues. Am J Physiol Regul Integr Comp Physiol. 2007 Nov;293(5):R2136-46. Epub 2007 Aug 22. [PubMed
]
- Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. Epub 2008 Jul 31. [PubMed
]
|
| Enzyme 118 Metabolite References |
Not Available |
|
Enzyme 119
[top]
|
| Enzyme 119 ID |
11274 |
| Enzyme 119 Name |
Electrogenic sodium bicarbonate cotransporter 4 |
| Enzyme 119 Synonyms |
- NBCe2
- Solute carrier family 4 member 5
|
| Enzyme 119 Gene Name |
SLC4A5 |
| Enzyme 119 Protein Sequence |
>Electrogenic sodium bicarbonate cotransporter 4
MKVKEEKAGVGKLDHTNHRRRFPDQKECPPIHIGLPVPTYPQRKTDQKGHLSGLQKVHWG
LRPDQPQQELTGPGSGASSQDSSMDLISRTRSPAAEQLQDILGEEDEAPNPTLFTEMDTL
QHDGDQMEWKESARWIKFEEKVEEGGERWSKPHVSTLSLHSLFELRTCLQTGTVLLDLDS
GSLPQIIDDVIEKQIEDGLLRPELRERVSYVLLRRHRHQTKKPIHRSLADIGKSVSTTNR
SPARSPGAGPSLHHSTEDLRMRQSANYGRLCHAQSRSMNDISLTPNTDQRKNKFMKKIPK
DSEASNVLVGEVDFLDQPFIAFVRLIQSAMLGGVTEVPVPTRFLFILLGPSGRAKSYNEI
GRAIATLMVDDLFSDVAYKARNREDLIAGIDEFLDEVIVLPPGEWDPNIRIEPPKKVPSA
DKRKSVFSLAELGQMNGSVGGGGGAPGGGNGGGGGGGSGGGAGSGGAGGTSSGDDGEMPA
MHEIGEELIWTGRFFGGLCLDIKRKLPWFPSDFYDGFHIQSISAILFIYLGCITNAITFG
GLLGDATDNYQGVMESFLGTAMAGSLFCLFSGQPLIILSSTGPILIFEKLLFDFSKGNGL
DYMEFRLWIGLHSAVQCLILVATDASFIIKYITRFTEEGFSTLISFIFIYDAIKKMIGAF
KYYPINMDFKPNFITTYKCECVAPDTVNTTVFNASAPLAPDTNASLYNLLNLTALDWSLL
SKKECLSYGGRLLGNSCKFIPDLALMSFILFFGTYSMTLTLKKFKFSRYFPTKVRALVAD
FSIVFSILMFCGIDACFGLETPKLHVPSVIKPTRPDRGWFVAPFGKNPWWVYPASILPAL
LVTILIFMDQQITAVIVNRKENKLKKAAGYHLDLFWVGILMALCSFMGLPWYVAATVISI
AHIDSLKMETETSAPGEQPQFLGVREQRVTGIIVFILTGISVFLAPILKCIPLPVLYGVF
LYMGVASLNGIQMGTGGSEFKIQKKLTPFWERCKLFLMPAKHQPDHAFLRHVPLRRIHLF
TLVQILCLAVLWILKSTVAAIIFPVMILGLIIVRRLLDFIFSQHDLAWIDNILPEKEKKE
TDKKRKRKKGAHEDCDEEPQFPPPSVIKIPMESVQSDPQNGIHCIARKRSSSWSYSL
|
| Enzyme 119 Number of Residues |
1137 |
| Enzyme 119 Molecular Weight |
126254.0 |
| Enzyme 119 Theoretical pI |
7.98 |
| Enzyme 119 GO Classification |
| Function |
- anion transmembrane transporter activity
- anion:anion antiporter activity
- inorganic anion exchanger activity
- ion transmembrane transporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- anion transport
- establishment of localization
- ion transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
|
|
| Enzyme 119 General Function |
Involved in anion transport |
| Enzyme 119 Specific Function |
Mediates sodium- and bicarbonate-dependent electrogenic sodium bicarbonate cotransport, with a Na(+):HCO3(-) stoichiometry of 2:1. May have a housekeeping function in regulating the pH of tissues in which it is expressed. May play a role in mediating Na(+):HCO3(-) cotransport in hepatocytes and intrahepatic cholangiocytes. Also may be important in protecting the renal paranchyma from alterations in urine pH |
| Enzyme 119 Pathways |
Not Available |
| Enzyme 119 Reactions |
Not Available |
| Enzyme 119 Pfam Domain Function |
|
| Enzyme 119 Signals |
|
| Enzyme 119 Transmembrane Regions |
- 524-544
567-587
609-629
640-660
739-759
777-797
828-848
874-894
931-951
953-973
1012-1032
1033-1053
|
| Enzyme 119 Essentiality |
Not Available |
| Enzyme 119 GenBank ID Protein |
125987596  |
| Enzyme 119 UniProtKB/Swiss-Prot ID |
Q9BY07  |
| Enzyme 119 UniProtKB/Swiss-Prot Entry Name |
S4A5_HUMAN  |
| Enzyme 119 PDB ID |
Not Available |
| Enzyme 119 Cellular Location |
Not Available |
| Enzyme 119 Gene Sequence |
>3414 bp
ATGAAGGTGAAGGAGGAGAAGGCTGGGGTAGGAAAGCTGGACCACACTAACCACAGGAGG
AGATTTCCGGATCAGAAAGAATGCCCTCCTATCCACATTGGGCTTCCAGTACCCACTTAC
CCTCAAAGAAAAACTGACCAGAAGGGACATCTTTCAGGCCTGCAAAAAGTCCACTGGGGC
CTGCGGCCAGACCAGCCACAGCAGGAACTGACTGGCCCAGGGAGTGGGGCAAGCAGCCAG
GACAGCAGCATGGATCTTATCAGCAGGACTCGGTCCCCAGCTGCTGAGCAGCTCCAGGAC
ATCCTGGGGGAGGAAGATGAGGCTCCCAACCCCACCCTCTTTACAGAGATGGATACTCTG
CAGCATGACGGAGACCAGATGGAGTGGAAGGAGTCAGCCAGGTGGATAAAGTTTGAAGAA
AAGGTAGAGGAAGGCGGCGAACGCTGGAGCAAGCCCCACGTGTCCACACTATCCCTGCAC
AGCCTCTTCGAGCTCCGTACCTGCCTGCAGACGGGGACGGTGCTGCTGGATTTGGACAGT
GGCTCCTTACCACAGATCATAGATGATGTCATTGAGAAGCAGATTGAGGATGGTCTCCTG
CGGCCAGAGCTCCGGGAGAGGGTCAGTTACGTCCTCCTGAGGAGGCACCGCCACCAAACC
AAGAAGCCCATCCACCGCTCCTTAGCTGACATTGGGAAGTCAGTCTCCACCACAAATCGC
AGTCCTGCCCGGAGCCCTGGTGCTGGCCCGAGTCTACACCACTCCACGGAAGACCTGCGG
ATGCGGCAGAGTGCAAATTACGGACGTCTGTGTCATGCCCAGAGCAGAAGCATGAATGAC
ATTTCTCTCACCCCAAACACAGACCAGCGGAAAAACAAATTCATGAAGAAGATCCCCAAG
GACTCAGAAGCGTCCAACGTGCTCGTGGGCGAGGTGGACTTCCTAGACCAGCCATTCATC
GCGTTCGTGCGCCTCATCCAGTCGGCCATGCTGGGAGGAGTGACCGAGGTGCCTGTCCCC
ACCAGATTTCTGTTTATACTACTGGGACCTTCTGGGAGAGCAAAATCCTACAATGAAATT
GGCCGTGCCATTGCAACCCTCATGGTAGATGATCTCTTCAGTGACGTGGCCTACAAAGCC
CGCAATCGGGAAGATCTGATCGCAGGAATTGATGAATTTCTGGATGAGGTCATCGTCCTT
CCTCCTGGAGAATGGGACCCAAATATCCGGATTGAGCCCCCCAAGAAGGTGCCCTCTGCT
GACAAGAGGAAATCTGTGTTCTCCCTAGCAGAGCTGGGCCAGATGAATGGCTCTGTGGGA
GGAGGCGGCGGAGCTCCTGGAGGAGGCAATGGAGGTGGTGGTGGTGGTGGCAGTGGCGGC
GGGGCTGGCAGTGGCGGGGCCGGCGGAACAAGCAGCGGGGATGATGGAGAGATGCCAGCC
ATGCATGAAATCGGGGAGGAACTTATCTGGACAGGAAGGTTCTTCGGTGGCCTGTGTCTG
GATATCAAGAGGAAGTTGCCCTGGTTCCCAAGTGACTTCTATGATGGCTTCCACATTCAG
TCCATCTCTGCCATCCTATTCATCTACCTCGGCTGTATCACCAACGCGATCACCTTTGGT
GGGCTTCTGGGGGATGCCACCGACAATTATCAGGGAGTGATGGAGAGCTTCCTGGGCACT
GCCATGGCTGGCTCCTTGTTCTGCCTCTTCTCGGGACAGCCTCTCATCATTCTCAGCAGC
ACGGGGCCCATCCTCATCTTTGAGAAGCTCCTCTTCGACTTCAGCAAAGGCAATGGCCTG
GACTACATGGAGTTCCGCCTCTGGATTGGCCTACACTCAGCTGTCCAGTGCCTTATCCTA
GTGGCCACAGATGCCAGCTTTATCATCAAATATATCACCCGCTTCACCGAGGAGGGCTTC
TCCACCCTTATCAGCTTCATCTTCATCTACGATGCCATCAAGAAGATGATCGGTGCCTTC
AAGTACTACCCTATCAATATGGACTTCAAGCCAAACTTCATCACTACCTACAAGTGCGAG
TGTGTCGCCCCTGACACAGTGAATACAACCGTGTTCAATGCTTCAGCCCCATTGGCACCA
GACACCAACGCTTCTCTGTACAACCTCCTTAACCTCACAGCGTTGGACTGGTCCCTGCTG
AGCAAGAAGGAGTGTCTGAGCTACGGCGGGCGCCTGCTTGGGAATTCCTGCAAGTTTATC
CCAGACCTGGCGCTCATGTCCTTCATCCTTTTCTTTGGGACATACTCCATGACCCTGACC
CTGAAGAAGTTCAAATTCAGCCGCTATTTTCCTACCAAGGTCCGGGCCCTGGTGGCTGAC
TTTTCCATTGTTTTCTCCATCCTGATGTTCTGTGGAATCGATGCCTGTTTTGGCCTAGAA
ACTCCCAAGCTGCATGTGCCCAGTGTCATCAAGCCAACGCGGCCTGACCGAGGCTGGTTC
GTGGCCCCCTTTGGGAAGAACCCGTGGTGGGTATACCCAGCAAGCATCCTGCCCGCCCTG
CTGGTGACCATCCTGATCTTCATGGACCAGCAGATCACTGCCGTCATTGTCAACCGGAAG
GAGAACAAACTGAAGAAGGCTGCCGGCTACCATCTGGACCTGTTCTGGGTGGGCATCCTC
ATGGCTTTGTGCTCCTTTATGGGGCTCCCCTGGTACGTGGCTGCCACGGTCATCTCCATC
GCCCACATCGACAGCCTCAAGATGGAGACAGAGACCAGTGCCCCTGGGGAGCAGCCCCAG
TTTCTGGGAGTCAGGGAACAGAGAGTAACCGGCATCATCGTCTTCATCCTGACGGGAATC
TCTGTCTTCCTGGCTCCCATCCTAAAGTGTATCCCCCTGCCGGTGCTGTACGGAGTCTTC
CTCTACATGGGCGTGGCCTCCCTGAATGGCATCCAGATGGGGACCGGAGGGTCAGAATTC
AAAATCCAGAAGAAGCTGACTCCATTCTGGGAACGCTGCAAGCTCTTCCTGATGCCAGCC
AAGCACCAGCCGGACCATGCCTTCCTGCGGCACGTGCCGCTGCGCCGGATCCACCTCTTC
ACCCTGGTGCAGATCCTCTGCCTGGCGGTGCTCTGGATCCTCAAATCCACGGTGGCTGCC
ATCATCTTCCCGGTCATGATCCTGGGCCTCATCATCGTTCGAAGGCTTCTGGATTTCATC
TTTTCCCAGCACGACCTGGCCTGGATTGACAACATCCTCCCAGAGAAGGAAAAAAAGGAG
ACAGACAAGAAGAGGAAGAGAAAAAAAGGGGCCCACGAGGACTGTGATGAGGAGCCCCAG
TTCCCTCCTCCCTCGGTTATAAAGATTCCCATGGAAAGTGTCCAATCAGATCCCCAAAAC
GGTATCCACTGCATTGCCAGAAAAAGATCTTCCAGTTGGAGTTACTCACTCTGA
|
| Enzyme 119 GenBank Gene ID |
NM_021196.3  |
| Enzyme 119 GeneCard ID |
SLC4A5  |
| Enzyme 119 GenAtlas ID |
SLC4A5  |
| Enzyme 119 HGNC ID |
HGNC:18168  |
| Enzyme 119 Chromosome Location |
2 |
| Enzyme 119 Locus |
2p13 |
| Enzyme 119 SNPs |
SNPJam Report  |
| Enzyme 119 General References |
- Pushkin A, Abuladze N, Newman D, Lee I, Xu G, Kurtz I: Cloning, characterization and chromosomal assignment of NBC4, a new member of the sodium bicarbonate cotransporter family. Biochim Biophys Acta. 2000 Sep 7;1493(1-2):215-8. [PubMed
]
- Pushkin A, Abuladze N, Newman D, Lee I, Xu G, Kurtz I: Two C-terminal variants of NBC4, a new member of the sodium bicarbonate cotransporter family: cloning, characterization, and localization. IUBMB Life. 2000 Jul;50(1):13-9. [PubMed
]
- Pushkin A, Abuladze N, Newman D, Tatishchev S, Kurtz I: Genomic organization of the DCTN1-SLC4A5 locus encoding both NBC4 and p150(Glued). Cytogenet Cell Genet. 2001;95(3-4):163-8. [PubMed
]
- Sassani P, Pushkin A, Gross E, Gomer A, Abuladze N, Dukkipati R, Carpenito G, Kurtz I: Functional characterization of NBC4: a new electrogenic sodium-bicarbonate cotransporter. Am J Physiol Cell Physiol. 2002 Feb;282(2):C408-16. [PubMed
]
- Virkki LV, Wilson DA, Vaughan-Jones RD, Boron WF: Functional characterization of human NBC4 as an electrogenic Na+-HCO cotransporter (NBCe2). Am J Physiol Cell Physiol. 2002 Jun;282(6):C1278-89. [PubMed
]
- Xu J, Wang Z, Barone S, Petrovic M, Amlal H, Conforti L, Petrovic S, Soleimani M: Expression of the Na+-HCO-3 cotransporter NBC4 in rat kidney and characterization of a novel NBC4 variant. Am J Physiol Renal Physiol. 2003 Jan;284(1):F41-50. Epub 2002 Aug 13. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Damkier HH, Nielsen S, Praetorius J: Molecular expression of SLC4-derived Na+-dependent anion transporters in selected human tissues. Am J Physiol Regul Integr Comp Physiol. 2007 Nov;293(5):R2136-46. Epub 2007 Aug 22. [PubMed
]
|
| Enzyme 119 Metabolite References |
Not Available |
|
Enzyme 120
[top]
|
| Enzyme 120 ID |
12056 |
| Enzyme 120 Name |
Putative small intestine sodium-dependent phosphate transport protein |
| Enzyme 120 Synonyms |
- Solute carrier family 17 member 4
|
| Enzyme 120 Gene Name |
SLC17A4 |
| Enzyme 120 Protein Sequence |
>Putative small intestine sodium-dependent phosphate transport protein
MSTGPDVKATVGDISSDGNLNVAQEECSRKGFCSVRHGLALILQLCNFSIYTQQMNLSIA
IPAMVNNTAPPSQPNASTERPSTDSQGYWNETLKEFKAMAPAYDWSPEIQGIILSSLNYG
SFLAPIPSGYVAGIFGAKYVVGAGLFISSFLTLFIPLAANAGVALLIVLRIVQGIAQVMV
LTGQYSIWVKWAPPLERSQLTTIAGSGSMLGSFIVLLAGGLLCQTIGWPYVFYIFGGIGC
ACCPLWFPLIYDDPVNHPFISAGEKRYIVCSLAQQDCSPGWSLPIRAMIKSLPLWAILVS
YFCEYWLFYTIMAYTPTYISSVLQANLRDSGILSALPFVVGCICIILGGLLADFLLSRKI
LRLITIRKLFTAIGVLFPSVILVSLPWVRSSHSMTMTFLVLSSAISSFCESGALVNFLDI
APRYTGFLKGLLQVFAHIAGAISPTAAGFFISQDSEFGWRNVFLLSAAVNISGLVFYLIF
GRADVQDWAKEQTFTHL
|
| Enzyme 120 Number of Residues |
497 |
| Enzyme 120 Molecular Weight |
54054.6 |
| Enzyme 120 Theoretical pI |
7.54 |
| Enzyme 120 GO Classification |
| Function |
| — |
| Process |
- establishment of localization
- transmembrane transport
- transport
|
| Component |
| — |
|
| Enzyme 120 General Function |
Involved in transmembrane transport |
| Enzyme 120 Specific Function |
May be involved in actively transporting phosphate into cells via Na(+) cotransport |
| Enzyme 120 Pathways |
Not Available |
| Enzyme 120 Reactions |
Not Available |
| Enzyme 120 Pfam Domain Function |
|
| Enzyme 120 Signals |
|
| Enzyme 120 Transmembrane Regions |
- 149-169
171-191
203-223
230-250
292-312
332-352
368-388
398-418
431-451
461-481
|
| Enzyme 120 Essentiality |
Not Available |
| Enzyme 120 GenBank ID Protein |
4587207  |
| Enzyme 120 UniProtKB/Swiss-Prot ID |
Q9Y2C5  |
| Enzyme 120 UniProtKB/Swiss-Prot Entry Name |
S17A4_HUMAN  |
| Enzyme 120 PDB ID |
Not Available |
| Enzyme 120 Cellular Location |
Not Available |
| Enzyme 120 Gene Sequence |
>1494 bp
ATGTCTACCGGACCAGATGTCAAGGCTACAGTGGGGGACATTTCCAGTGATGGCAATTTA
AACGTGGCTCAAGAGGAATGCTCCAGGAAAGGTTTTTGTTCAGTCCGACATGGGCTGGCC
CTCATCTTGCAGCTCTGTAATTTTTCAATTTACACCCAACAAATGAACTTGAGCATTGCC
ATTCCAGCTATGGTGAACAACACAGCCCCACCTAGCCAGCCCAATGCCTCCACAGAACGG
CCCTCCACTGACTCCCAGGGCTACTGGAATGAAACTCTAAAAGAATTTAAAGCAATGGCC
CCTGCATATGACTGGAGTCCTGAAATCCAGGGAATCATCCTCAGCTCCCTCAACTATGGC
TCATTCTTGGCTCCAATCCCCAGTGGCTATGTGGCTGGAATATTTGGAGCCAAGTATGTG
GTTGGTGCTGGCTTGTTTATTTCCTCATTCCTGACCCTCTTCATTCCACTGGCAGCTAAT
GCGGGAGTGGCCTTGCTCATTGTCCTCCGGATTGTACAAGGCATAGCCCAGGTTATGGTA
TTAACTGGTCAGTATTCAATTTGGGTCAAATGGGCTCCCCCACTGGAAAGGAGTCAACTC
ACCACCATTGCTGGATCAGGGTCAATGCTGGGGTCCTTCATTGTTCTACTTGCTGGTGGT
CTCCTCTGCCAGACCATAGGATGGCCTTACGTCTTCTATATCTTTGGAGGAATTGGCTGT
GCTTGTTGTCCTCTCTGGTTTCCTCTCATTTATGATGATCCTGTGAATCATCCCTTTATC
AGTGCTGGTGAGAAGAGATACATTGTGTGTTCATTGGCTCAGCAGGACTGTTCACCAGGC
TGGTCTCTTCCCATTAGGGCTATGATCAAATCCTTACCACTCTGGGCCATTTTAGTCTCT
TATTTCTGTGAATACTGGCTTTTTTATACCATTATGGCGTACACACCAACGTACATCAGC
TCGGTACTTCAAGCCAACCTCAGAGATAGTGGGATCCTGTCTGCCTTGCCGTTTGTTGTT
GGATGTATCTGCATTATCCTTGGAGGTCTACTGGCAGACTTTCTTCTCTCCAGAAAAATC
CTCAGACTCATCACCATCAGGAAACTCTTCACTGCCATTGGGGTTCTCTTCCCATCCGTG
ATCCTCGTGTCCCTGCCCTGGGTCAGATCCAGCCACAGCATGACCATGACCTTCTTGGTG
CTGTCTTCTGCCATCAGCAGCTTCTGTGAATCAGGAGCCCTTGTTAACTTCTTGGATATT
GCTCCTCGGTACACTGGCTTTCTCAAAGGACTATTGCAAGTCTTTGCACACATAGCTGGA
GCCATCTCTCCTACTGCTGCTGGATTTTTCATCAGTCAGGATTCAGAGTTTGGTTGGAGA
AATGTCTTCTTGCTTTCAGCTGCTGTTAACATATCGGGCCTGGTTTTCTACCTCATCTTT
GGCCGAGCAGATGTGCAGGACTGGGCTAAGGAGCAGACATTCACCCACCTCTGA
|
| Enzyme 120 GenBank Gene ID |
AB020527  |
| Enzyme 120 GeneCard ID |
SLC17A4  |
| Enzyme 120 GenAtlas ID |
SLC17A4  |
| Enzyme 120 HGNC ID |
HGNC:10932  |
| Enzyme 120 Chromosome Location |
6 |
| Enzyme 120 Locus |
6p22-p21.3 |
| Enzyme 120 SNPs |
SNPJam Report  |
| Enzyme 120 General References |
- Shibui A, Tsunoda T, Seki N, Suzuki Y, Sugane K, Sugano S: Isolation and chromosomal mapping of a novel human gene showing homology to Na+/PO4 cotransporter. J Hum Genet. 1999;44(3):190-2. [PubMed
]
- Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L, Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J, Beck S: The DNA sequence and analysis of human chromosome 6. Nature. 2003 Oct 23;425(6960):805-11. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
|
| Enzyme 120 Metabolite References |
Not Available |
|
Enzyme 121
[top]
|
| Enzyme 121 ID |
12268 |
| Enzyme 121 Name |
Solute carrier family 13 member 5 |
| Enzyme 121 Synonyms |
- Na(+)/citrate cotransporter
- NaCT
- Sodium-coupled citrate transporter
- Sodium-dependent citrate transporter
|
| Enzyme 121 Gene Name |
SLC13A5 |
| Enzyme 121 Protein Sequence |
>Solute carrier family 13 member 5
MASALSYVSKFKSFVILFVTPLLLLPLVILMPAKFVRCAYVIILMAIYWCTEVIPLAVTS
LMPVLLFPLFQILDSRQVCVQYMKDTNMLFLGGLIVAVAVERWNLHKRIALRTLLWVGAK
PARLMLGFMGVTALLSMWISNTATTAMMVPIVEAILQQMEATSAATEAGLELVDKGKAKE
LPGSQVIFEGPTLGQQEDQERKRLCKAMTLCICYAASIGGTATLTGTGPNVVLLGQMNEL
FPDSKDLVNFASWFAFAFPNMLVMLLFAWLWLQFVYMRFNFKKSWGCGLESKKNEKAALK
VLQEEYRKLGPLSFAEINVLICFFLLVILWFSRDPGFMPGWLTVAWVEGETKYVSDATVA
IFVATLLFIVPSQKPKFNFRSQTEEERKTPFYPPPLLDWKVTQEKVPWGIVLLLGGGFAL
AKGSEASGLSVWMGKQMEPLHAVPPAAITLILSLLVAVFTECTSNVATTTLFLPIFASMS
RSIGLNPLYIMLPCTLSASFAFMLPVATPPNAIVFTYGHLKVADMVKTGVIMNIIGVFCV
FLAVNTWGRAIFDLDHFPDWANVTHIET
|
| Enzyme 121 Number of Residues |
568 |
| Enzyme 121 Molecular Weight |
63061.6 |
| Enzyme 121 Theoretical pI |
8.33 |
| Enzyme 121 GO Classification |
| Function |
|
| Process |
- cation transport
- establishment of localization
- ion transport
- monovalent inorganic cation transport
- sodium ion transport
- transmembrane transport
- transport
|
| Component |
|
|
| Enzyme 121 General Function |
Involved in transporter activity |
| Enzyme 121 Specific Function |
High-affinity sodium/citrate cotransporter that mediates citrate entry into cells. The transport process is electrogenic; it is the trivalent form of citrate rather than the divalent form that is recognized as a substrate. May facilitate the utilization of circulating citrate for the generation of metabolic energy and for the synthesis of fatty acids and cholesterol |
| Enzyme 121 Pathways |
Not Available |
| Enzyme 121 Reactions |
Not Available |
| Enzyme 121 Pfam Domain Function |
|
| Enzyme 121 Signals |
|
| Enzyme 121 Transmembrane Regions |
- 13-33
53-73
80-100
124-144
215-235
252-272
311-331
353-373
406-426
439-459
487-507
528-548
|
| Enzyme 121 Essentiality |
Not Available |
| Enzyme 121 GenBank ID Protein |
47077779  |
| Enzyme 121 UniProtKB/Swiss-Prot ID |
Q86YT5  |
| Enzyme 121 UniProtKB/Swiss-Prot Entry Name |
S13A5_HUMAN  |
| Enzyme 121 PDB ID |
Not Available |
| Enzyme 121 Cellular Location |
Not Available |
| Enzyme 121 Gene Sequence |
>1707 bp
ATGGCCTCGGCGCTGAGCTATGTCTCCAAGTTCAAGTCCTTCGTGATCTTGTTCGTCACC
CCGCTCCTGCTGCTGCCACTCGTCATTCTGATGCCCGCCAAGTTTGTCAGGTGTGCCTAC
GTCATCATCCTCATGGCCATTTACTGGTGCACAGAAGTCATCCCTCTGGCTGTCACCTCT
CTCATGCCTGTCTTGCTTTTCCCACTCTTCCAGATTCTGGACTCCAGGCAGGTGTGTGTC
CAGTACATGAAGGACACCAACATGCTGTTCCTGGGCGGCCTCATCGTGGCCGTGGCTGTG
GAGCGCTGGAACCTGCACAAGAGGATCGCCCTGCGCACGCTCCTCTGGGTGGGGGCCAAG
CCTGCACGGCTGATGCTGGGCTTCATGGGCGTCACAGCCCTCCTGTCCATGTGGATCAGT
AACACGGCAACCACGGCCATGATGGTGCCCATCGTGGAGGCCATATTGCAGCAGATGGAA
GCCACAAGCGCAGCCACCGAGGCCGGCCTGGAGCTGGTGGACAAGGGCAAGGCCAAGGAG
CTGCCAGGGAGTCAAGTGATTTTTGAAGGCCCCACTCTGGGGCAGCAGGAAGACCAAGAG
CGGAAGAGGTTGTGTAAGGCCATGACCCTGTGCATCTGCTACGCGGCCAGCATCGGGGGC
ACCGCCACCCTGACCGGGACGGGACCCAACGTGGTGCTCCTGGGCCAGATGAACGAGTTG
TTTCCTGACAGCAAGGACCTCGTGAACTTTGCTTCCTGGTTTGCATTTGCCTTTCCCAAC
ATGCTGGTGATGCTGCTGTTCGCCCGGCTGTGGCTCCAGTTTGTTTACATGAGATTCAAT
TTTAAAAAGTCCTGGGGCTGCGGGCTAGAGAGCAAGAAAAACGAGAAGGCTGCCCTCAAG
GTGCTGCAGGAGGAGTACCGGAAGCTGGGGCCCTTGTCCTTCGCGGAGATCAACGTGCTG
ATCTGCTTCTTCCTGCTGGTCATCCTGTGGTTCTCCCGAGACCCTGGCTTCATGCCCGGC
TGGCTGACTGTTGCCTGGGTGGAGGGTGAGACAAAGTATGTCTCCGATGCCACTGTGGCC
ATCTTTGTGGCTACCCTGCTATTCATTGTGCCTTCACAGAAGCCCAGGTTTAACTTCCGC
AGCCAGACTGAGGAAGAAAGGAAAACTCCATTTTATCCCCCTCCCCTGCTGGATTGGAAG
GTAACCCAGGAGAAAGTGCCCTGGGGCATCGTGCTGCTACTAGGGGGCGGATTTGCTCTG
GCTAAAGGATCCGAGGCCTCGGGGCTGTCCGTGTGGATGGGGAAGCAGATGGAGCCCTTG
CACGCAGTGCCCCCGGCAGCCATCACCTTGATCTTGTCCTTGCTCGTTGCCGTGTTCACT
GAGTGCACAAGCAACGTGGCCACCACCACCTTGTTCCTGCCCATCTTTGCCTCCATGTCT
CGCTCCATCGGCCTCAATCCGCTGTACATCATGCTGCCCTGTACCCTGAGTGCCTCCTTT
GCCTTCATGTTGCCTGTGGCCACCCCTCCAAATGCCATCGTGTTCACCTATGGGCACCTC
AAGGTTGCTGACATGGTGAAAACAGGAGTCATAATGAACATAATTGGAGTCTTCTGTGTG
TTTTTGGCTGTCAACACCTGGGGACGGGCCATATTTGACTTGGATCATTTCCCTGACTGG
GCTAATGTGACACATATTGAGACTTAG
|
| Enzyme 121 GenBank Gene ID |
AK172785  |
| Enzyme 121 GeneCard ID |
SLC13A5  |
| Enzyme 121 GenAtlas ID |
SLC13A5  |
| Enzyme 121 HGNC ID |
HGNC:23089  |
| Enzyme 121 Chromosome Location |
1 |
| Enzyme 121 Locus |
17p13.1 |
| Enzyme 121 SNPs |
SNPJam Report  |
| Enzyme 121 General References |
- Inoue K, Zhuang L, Ganapathy V: Human Na+ -coupled citrate transporter: primary structure, genomic organization, and transport function. Biochem Biophys Res Commun. 2002 Dec 6;299(3):465-71. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. J Proteome Res. 2009 Feb;8(2):651-61. [PubMed
]
|
| Enzyme 121 Metabolite References |
Not Available |
|
Enzyme 122
[top]
|
| Enzyme 122 ID |
12456 |
| Enzyme 122 Name |
Sodium-coupled monocarboxylate transporter 2 |
| Enzyme 122 Synonyms |
- Electroneutral sodium monocarboxylate cotransporter
- Low-affinity sodium-lactate cotransporter
- Solute carrier family 5 member 12
|
| Enzyme 122 Gene Name |
SLC5A12 |
| Enzyme 122 Protein Sequence |
>Sodium-coupled monocarboxylate transporter 2
MEVKNFAVWDYVVFAALFFISSGIGVFFAIKERKKATSREFLVGGRQMSFGPVGLSLTAS
FMSAVTVLGTPSEVYRFGASFLVFFIAYLFVILLTSELFLPVFYRSGITSTYEYLQLRFN
KPVRYAATVIYIVQTILYTGVVVYAPALALNQVTGFDLWGSVFATGIVCTFYCTLGGLKA
VVWTDAFQMVVMIVGFLTVLIQGSTHAGGFHNVLEQSTNGSRLHIFDFDVDPLRRHTFWT
ITVGGTFTWLGIYGVNQSTIQRCISCKTEKHAKLALYFNLLGLWIILVCAVFSGLIMYSH
FKDCDPWTSGIISAPDQLMPYFVMEIFATMPGLPGLFVACAFSGTLSTVASSINALATVT
FEDFVKSCFPHLSDKLSTWISKGLCLLFGVMCTSMAVAASVMGGVVQASLSIHGMCGGPM
LGLFSLGIVFPFVNWKGALGGLLTGITLSFWVAIGAFIYPAPASKTWPLPLSTDQCIKSN
VTATGPPVLSSRPGIADTWYSISYLYYSAVGCLGCIVAGVIISLITGRQRGEDIQPLLIR
PVCNLFCFWSKKYKTLCWCGVQHDSGTEQENLENGSARKQGAESVLQNGLRRESLVHVPG
YDPKDKSYNNMAFETTHF
|
| Enzyme 122 Number of Residues |
618 |
| Enzyme 122 Molecular Weight |
67646.4 |
| Enzyme 122 Theoretical pI |
8.16 |
| Enzyme 122 GO Classification |
| Function |
|
| Process |
- establishment of localization
- transmembrane transport
- transport
|
| Component |
|
|
| Enzyme 122 General Function |
Involved in transporter activity |
| Enzyme 122 Specific Function |
Acts as an electroneutral and low-affinity sodium (Na(+))-dependent sodium-coupled solute transporter. Catalyzes the transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, nicotinate, propionate, butyrate and beta-D- hydroxybutyrate. May be responsible for the first step of reabsorption of monocarboxylates from the lumen of the proximal tubule of the kidney and the small intestine. May play also a role in monocarboxylates transport in the retina. Mediates electroneutral uptake of lactate, with a stoichiometry of 2 Na(+) for each lactate |
| Enzyme 122 Pathways |
Not Available |
| Enzyme 122 Reactions |
Not Available |
| Enzyme 122 Pfam Domain Function |
|
| Enzyme 122 Signals |
|
| Enzyme 122 Transmembrane Regions |
- 10-30
48-68
83-103
129-149
158-178
181-201
236-256
276-296
322-342
386-406
412-432
438-458
505-525
|
| Enzyme 122 Essentiality |
Not Available |
| Enzyme 122 GenBank ID Protein |
157671931  |
| Enzyme 122 UniProtKB/Swiss-Prot ID |
Q1EHB4  |
| Enzyme 122 UniProtKB/Swiss-Prot Entry Name |
SC5AC_HUMAN  |
| Enzyme 122 PDB ID |
Not Available |
| Enzyme 122 Cellular Location |
Not Available |
| Enzyme 122 Gene Sequence |
>1857 bp
ATGGAGGTGAAGAACTTTGCAGTTTGGGATTATGTTGTATTTGCAGCCCTCTTTTTCATT
TCCTCTGGAATTGGGGTGTTCTTTGCCATTAAGGAGAGAAAAAAGGCAACTTCCCGAGAG
TTCCTGGTTGGGGGAAGGCAAATGAGCTTTGGCCCTGTCGGCTTGTCTCTGACAGCCAGC
TTCATGTCAGCTGTCACGGTCCTGGGGACCCCTTCTGAAGTCTACCGCTTTGGGGCATCC
TTCCTAGTCTTCTTCATTGCTTACCTATTTGTCATCCTCTTAACATCAGAGCTCTTTCTC
CCTGTGTTCTACAGATCTGGTATCACCAGCACTTATGAGTACTTACAACTACGATTCAAC
AAACCAGTTCGCTATGCTGCCACGGTCATCTACATTGTACAGACGATTCTCTACACAGGA
GTGGTGGTGTATGCTCCTGCCCTGGCACTCAATCAAGTGACTGGGTTTGATCTCTGGGGC
TCTGTGTTTGCAACAGGAATTGTTTGCACATTCTACTGTACCCTGGGAGGATTAAAAGCA
GTGGTGTGGACAGATGCATTTCAGATGGTTGTCATGATTGTGGGCTTCTTAACGGTTCTC
ATTCAAGGATCAACTCATGCTGGGGGATTCCACAATGTATTAGAGCAATCAACAAATGGA
TCTCGACTACATATATTTGACTTTGATGTAGATCCTCTCAGGCGACACACTTTTTGGACT
ATCACAGTGGGAGGAACTTTTACTTGGCTCGGAATCTATGGGGTCAATCAATCAACTATT
CAGCGATGCATCTCTTGCAAAACAGAAAAGCATGCTAAGCTTGCCTTGTATTTTAACTTG
CTGGGTCTCTGGATCATTCTGGTGTGTGCTGTCTTCTCTGGCTTAATCATGTACTCTCAC
TTTAAAGACTGTGACCCTTGGACTTCTGGCATCATCTCAGCACCAGACCAGCTGATGCCG
TACTTTGTCATGGAGATATTTGCCACAATGCCAGGACTGCCAGGACTTTTTGTGGCTTGT
GCCTTCAGTGGAACTCTGAGCACCGTGGCTTCCAGCATCAATGCCTTGGCAACAGTGACC
TTTGAGGATTTTGTCAAGAGCTGTTTTCCTCATCTCTCCGACAAGCTGAGCACCTGGATC
AGTAAAGGCTTATGTCTCTTATTTGGCGTGATGTGTACCTCTATGGCTGTGGCTGCATCT
GTCATGGGAGGTGTTGTGCAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATG
CTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTTTGTGAATTGGAAGGGTGCACTAGGA
GGTCTTCTTACTGGAATCACCTTGTCATTTTGGGTGGCCATTGGGGCCTTCATTTACCCT
GCACCAGCCTCTAAGACATGGCCTTTGCCTCTGTCAACAGACCAATGTATCAAATCAAAT
GTGACAGCAACAGGGCCTCCAGTACTATCCAGCAGACCTGGAATAGCTGATACCTGGTAC
TCGATCTCCTACCTTTACTACAGTGCAGTGGGCTGCTTAGGATGCATTGTTGCTGGAGTA
ATCATCAGCCTCATAACAGGTCGCCAAAGAGGTGAGGATATTCAACCACTGTTAATTAGA
CCAGTTTGTAATTTATTTTGCTTTTGGTCTAAGAAGTACAAAACACTATGCTGGTGTGGA
GTTCAGCATGACAGTGGGACAGAGCAGGAAAACCTTGAGAATGGCAGTGCCCGGAAACAG
GGGGCTGAATCTGTCTTACAGAACGGACTCAGAAGAGAAAGCCTGGTACATGTTCCAGGC
TATGATCCTAAGGACAAAAGCTACAACAATATGGCATTTGAGACTACCCATTTCTAA
|
| Enzyme 122 GenBank Gene ID |
NM_178498.3  |
| Enzyme 122 GeneCard ID |
SLC5A12  |
| Enzyme 122 GenAtlas ID |
SLC5A12  |
| Enzyme 122 HGNC ID |
HGNC:28750  |
| Enzyme 122 Chromosome Location |
1 |
| Enzyme 122 Locus |
11p14.2 |
| Enzyme 122 SNPs |
SNPJam Report  |
| Enzyme 122 General References |
- Gopal E, Umapathy NS, Martin PM, Ananth S, Gnana-Prakasam JP, Becker H, Wagner CA, Ganapathy V, Prasad PD: Cloning and functional characterization of human SMCT2 (SLC5A12) and expression pattern of the transporter in kidney. Biochim Biophys Acta. 2007 Nov;1768(11):2690-7. Epub 2007 Jul 14. [PubMed
]
- Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E, Chang JL, Cuomo CA, Eichler E, FitzGerald MG, Jaffe DB, LaButti K, Nicol R, Park HS, Seaman C, Sougnez C, Yang X, Zimmer AR, Zody MC, Birren BW, Nusbaum C, Fujiyama A, Hattori M, Rogers J, Lander ES, Sakaki Y: Human chromosome 11 DNA sequence and analysis including novel gene identification. Nature. 2006 Mar 23;440(7083):497-500. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
|
| Enzyme 122 Metabolite References |
Not Available |
|
Enzyme 123
[top]
|
| Enzyme 123 ID |
12459 |
| Enzyme 123 Name |
Sodium/glucose cotransporter 5 |
| Enzyme 123 Synonyms |
- Na(+)/glucose cotransporter 5
- Solute carrier family 5 member 10
|
| Enzyme 123 Gene Name |
SLC5A10 |
| Enzyme 123 Protein Sequence |
>Sodium/glucose cotransporter 5
MAANSTSDLHTPGTQLSVADIIVITVYFALNVAVGIWSSCRASRNTVNGYFLAGRDMTWW
PIGASLFASSEGSGLFIGLAGSGAAGGLAVAGFEWNATYVLLALAWVFVPIYISSEIVTL
PEYIQKRYGGQRIRMYLSVLSLLLSVFTKISLDLYAGALFVHICLGWNFYLSTILTLGIT
ALYTIAGGLAAVIYTDALQTLIMVVGAVILTIKAFDQIGGYGQLEAAYAQAIPSRTIANT
TCHLPRTDAMHMFRDPHTGDLPWTGMTFGLTIMATWYWCTDQVIVQRSLSARDLNHAKAG
SILASYLKMLPMGLIIMPGMISRALFPDDVGCVVPSECLRACGAEVGCSNIAYPKLVMEL
MPIGLRGLMIAVMLAALMSSLTSIFNSSSTLFTMDIWRRLRPRSGERELLLVGRLVIVAL
IGVSVAWIPVLQDSNSGQLFIYMQSVTSSLAPPVTAVFVLGVFWRRANEQGAFWGLIAGL
VVGATRLVLEFLNPAPPCGEPDTRPAVLGSIHYLHFAVALFALSGAVVVAGSLLTPPPQS
VQIENLTWWTLAQDVPLGTKAGDGQTPQKHAFWARVCGFNAILLMCVNIFFYAYFA
|
| Enzyme 123 Number of Residues |
596 |
| Enzyme 123 Molecular Weight |
64341.8 |
| Enzyme 123 Theoretical pI |
7.66 |
| Enzyme 123 GO Classification |
| Function |
|
| Process |
- establishment of localization
- transmembrane transport
- transport
|
| Component |
|
|
| Enzyme 123 General Function |
Involved in transporter activity |
| Enzyme 123 Specific Function |
Not Available |
| Enzyme 123 Pathways |
Not Available |
| Enzyme 123 Reactions |
Not Available |
| Enzyme 123 Pfam Domain Function |
|
| Enzyme 123 Signals |
|
| Enzyme 123 Transmembrane Regions |
- 16-36
73-93
100-120
150-170
174-194
201-221
265-285
301-321
356-376
410-430
444-464
472-492
514-534
576-596
|
| Enzyme 123 Essentiality |
Not Available |
| Enzyme 123 GenBank ID Protein |
109659836  |
| Enzyme 123 UniProtKB/Swiss-Prot ID |
A0PJK1  |
| Enzyme 123 UniProtKB/Swiss-Prot Entry Name |
SC5AA_HUMAN  |
| Enzyme 123 PDB ID |
Not Available |
| Enzyme 123 Cellular Location |
Not Available |
| Enzyme 123 Gene Sequence |
>1791 bp
ATGGCCGCCAACTCCACCAGCGACCTCCACACTCCCGGGACGCAGCTGAGCGTGGCTGAC
ATCATCGTCATCACTGTGTATTTTGCTCTGAATGTGGCCGTGGGCATATGGTCCTCTTGT
CGGGCCAGTAGGAACACGGTGAATGGCTACTTCCTGGCAGGCCGGGACATGACGTGGTGG
CCGATTGGAGCCTCCCTCTTCGCCAGCAGCGAGGGCTCTGGCCTCTTCATTGGACTGGCG
GGCTCAGGCGCGGCAGGAGGTCTGGCCGTGGCAGGCTTCGAGTGGAATGCCACGTACGTG
CTGCTGGCACTGGCATGGGTGTTCGTGCCCATCTACATCTCCTCAGAGATCGTCACCTTA
CCTGAGTACATTCAGAAGCGCTACGGGGGCCAGCGGATCCGCATGTACCTGTCTGTCCTG
TCCCTGCTACTGTCTGTCTTCACCAAGATATCGCTGGACCTGTACGCGGGGGCTCTGTTT
GTGCACATCTGCCTGGGCTGGAACTTCTACCTCTCCACCATCCTCACGCTCGGCATCACA
GCCCTGTACACCATCGCAGGGGGCCTGGCTGCTGTAATCTACACGGACGCCCTGCAGACG
CTCATCATGGTGGTGGGGGCTGTCATCCTGACAATCAAAGCTTTTGACCAGATCGGTGGT
TACGGGCAGCTGGAGGCAGCCTACGCCCAGGCCATTCCCTCCAGGACCATTGCCAACACC
ACCTGCCACCTGCCACGTACAGACGCCATGCACATGTTTCGAGACCCCCACACAGGGGAC
CTGCCGTGGACCGGGATGACCTTTGGCCTGACCATCATGGCCACCTGGTACTGGTGCACC
GACCAGGTCATCGTGCAGCGATCACTGTCAGCCCGGGACCTGAACCATGCCAAGGCGGGC
TCCATCCTGGCCAGCTACCTCAAGATGCTCCCCATGGGCCTGATCATCATGCCGGGCATG
ATCAGCCGCGCATTGTTCCCAGATGATGTGGGCTGCGTGGTGCCGTCCGAGTGCCTGCGG
GCCTGCGGGGCCGAGGTCGGCTGCTCCAACATCGCCTACCCCAAGCTGGTCATGGAACTG
ATGCCCATCGGTCTGCGGGGGCTGATGATCGCAGTGATGCTGGCGGCGCTCATGTCGTCG
CTGACCTCCATCTTCAACAGCAGCAGCACCCTCTTCACTATGGACATCTGGAGGCGGCTG
CGTCCCCGCTCCGGCGAGCGGGAGCTCCTGCTGGTGGGACGGCTGGTCATAGTGGCACTC
ATCGGCGTGAGTGTGGCCTGGATCCCCGTCCTGCAGGACTCCAACAGCGGGCAACTCTTC
ATCTACATGCAGTCAGTGACCAGCTCCCTGGCCCCACCAGTGACTGCAGTCTTTGTCCTG
GGCGTCTTCTGGCGACGTGCCAACGAGCAGGGGGCCTTCTGGGGCCTGATAGCAGGGCTG
GTGGTGGGGGCCACGAGGCTGGTCCTGGAATTCCTGAACCCAGCCCCACCGTGCGGAGAG
CCAGACACGCGGCCAGCCGTCCTGGGGAGCATCCACTACCTGCACTTCGCTGTCGCCCTC
TTTGCACTCAGTGGTGCTGTTGTGGTGGCTGGAAGCCTGCTGACCCCACCCCCACAGAGT
GTCCAGATTGAGAACCTTACCTGGTGGACCCTGGCTCAGGATGTGCCCTTGGGAACTAAA
GCAGGTGATGGCCAAACACCCCAGAAACACGCCTTCTGGGCCCGTGTCTGTGGCTTCAAT
GCCATCCTCCTCATGTGTGTCAACATATTCTTTTATGCCTACTTCGCCTGA
|
| Enzyme 123 GenBank Gene ID |
NM_001042450.1  |
| Enzyme 123 GeneCard ID |
SLC5A10  |
| Enzyme 123 GenAtlas ID |
SLC5A10  |
| Enzyme 123 HGNC ID |
HGNC:23155  |
| Enzyme 123 Chromosome Location |
1 |
| Enzyme 123 Locus |
17p11.2 |
| Enzyme 123 SNPs |
SNPJam Report  |
| Enzyme 123 General References |
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Zody MC, Garber M, Adams DJ, Sharpe T, Harrow J, Lupski JR, Nicholson C, Searle SM, Wilming L, Young SK, Abouelleil A, Allen NR, Bi W, Bloom T, Borowsky ML, Bugalter BE, Butler J, Chang JL, Chen CK, Cook A, Corum B, Cuomo CA, de Jong PJ, DeCaprio D, Dewar K, FitzGerald M, Gilbert J, Gibson R, Gnerre S, Goldstein S, Grafham DV, Grocock R, Hafez N, Hagopian DS, Hart E, Norman CH, Humphray S, Jaffe DB, Jones M, Kamal M, Khodiyar VK, LaButti K, Laird G, Lehoczky J, Liu X, Lokyitsang T, Loveland J, Lui A, Macdonald P, Major JE, Matthews L, Mauceli E, McCarroll SA, Mihalev AH, Mudge J, Nguyen C, Nicol R, O'Leary SB, Osoegawa K, Schwartz DC, Shaw-Smith C, Stankiewicz P, Steward C, Swarbreck D, Venkataraman V, Whittaker CA, Yang X, Zimmer AR, Bradley A, Hubbard T, Birren BW, Rogers J, Lander ES, Nusbaum C: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature. 2006 Apr 20;440(7087):1045-9. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. Sci Signal. 2009 Aug 18;2(84):ra46. [PubMed
]
|
| Enzyme 123 Metabolite References |
Not Available |
|
Enzyme 124
[top]
|
| Enzyme 124 ID |
12475 |
| Enzyme 124 Name |
Sodium/myo-inositol cotransporter 2 |
| Enzyme 124 Synonyms |
- Na(+)/myo-inositol cotransporter 2
- Sodium-dependent glucose cotransporter
- Sodium/glucose cotransporter KST1
- Solute carrier family 5 member 11
|
| Enzyme 124 Gene Name |
SLC5A11 |
| Enzyme 124 Protein Sequence |
>Sodium/myo-inositol cotransporter 2
MESGTSSPQPPQLDPLDAFPQKGLEPGDIAVLVLYFLFVLAVGLWSTVKTKRDTVKGYFL
AGGDMVWWPVGASLFASNVGSGHFIGLAGSGAATGISVSAYELNGLFSVLMLAWIFLPIY
IAGQVTTMPEYLRKRFGGIRIPIILAVLYLFIYIFTKISVDMYAGAIFIQQSLHLDLYLA
IVGLLAITAVYTVAGGLAAVIYTDALQTLIMLIGALTLMGYSFAAVGGMEGLKEKYFLAL
ASNRSENSSCGLPREDAFHIFRDPLTSDLPWPGVLFGMSIPSLWYWCTDQVIVQRTLAAK
NLSHAKGGALMAAYLKVLPLFIMVFPGMVSRILFPDQVACADPEICQKICSNPSGCSDIA
YPKLVLELLPTGLRGLMMAVMVAALMSSLTSIFNSASTIFTMDLWNHLRPRASEKELMIV
GRVFVLLLVLVSILWIPVVQASQGGQLFIYIQSISSYLQPPVAVVFIMGCFWKRTNEKGA
FWGLISGLLLGLVRLVLDFIYVQPRCDQPDERPVLVKSIHYLYFSMILSTVTLITVSTVS
WFTEPPSKEMVSHLTWFTRHDPVVQKEQAPPAAPLSLTLSQNGMPEASSSSSVQFEMVQE
NTSKTHSCDMTPKQSKVVKAILWLCGIQEKGKEELPARAEAIIVSLEENPLVKTLLDVNL
IFCVSCAIFIWGYFA
|
| Enzyme 124 Number of Residues |
675 |
| Enzyme 124 Molecular Weight |
74035.5 |
| Enzyme 124 Theoretical pI |
6.77 |
| Enzyme 124 GO Classification |
| Function |
|
| Process |
- establishment of localization
- transmembrane transport
- transport
|
| Component |
|
|
| Enzyme 124 General Function |
Involved in transporter activity |
| Enzyme 124 Specific Function |
Involved in the sodium-dependent cotransport of myo- inositol (MI) with a Na(+):MI stoichiometry of 2:1. Exclusively responsible for apical MI transport and absorption in intestine. Also can transport D-chiro-inositol (DCI) but not L-fructose. Exhibits stereospecific cotransport of both D-glucose and D- xylose. May induce apoptosis through the TNF-alpha, PDCD1 pathway. May play a role in the regulation of MI concentration in serum, involving reabsorption in at least the proximal tubule of the kidney |
| Enzyme 124 Pathways |
Not Available |
| Enzyme 124 Reactions |
Not Available |
| Enzyme 124 Pfam Domain Function |
|
| Enzyme 124 Signals |
|
| Enzyme 124 Transmembrane Regions |
- 28-48
66-88
103-123
136-156
181-201
209-229
273-293
309-329
376-396
419-439
447-467
480-500
522-542
655-675
|
| Enzyme 124 Essentiality |
Not Available |
| Enzyme 124 GenBank ID Protein |
15419543  |
| Enzyme 124 UniProtKB/Swiss-Prot ID |
Q8WWX8  |
| Enzyme 124 UniProtKB/Swiss-Prot Entry Name |
SC5AB_HUMAN  |
| Enzyme 124 PDB ID |
Not Available |
| Enzyme 124 Cellular Location |
Not Available |
| Enzyme 124 Gene Sequence |
>2028 bp
ATGGAGAGCGGCACCAGCAGCCCTCAGCCTCCACAGTTAGATCCCCTGGATGCGTTTCCC
CAGAAGGGCTTGGAGCCTGGGGACATCGCGGTGCTAGTTCTGTACTTCCTCTTTGTCCTG
ACTGTTGGACTATGGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTG
GCTGGAGGGGACATGGTGTGGTGGCCAGTGGGTGCATCCTTGTTTGCCAGCAATGTTGGA
AGTGGACATTTCATTGGCCTGGCAGGGTCAGGTGCTGCTACGGGCATTTCTGTATCAGCT
TATGAACTTAATGGCTTGTTTTCTGTGCTGATGTTGGCCTGGATCTTCCTACCCATCTAC
ATTGCTGGTCAGGTCACCACGATGCCAGAATACCTACGGAAGCGCTTCGGTGGCATCAGA
ATCCCCATCATCCTGGCTGTACTCTACCTATTTATCTACATCTTCACCAAGATCTCGGTA
GACATGTATGCAGGTGCCATCTTCATCCAGCAGTCTTTGCACCTGGATCTGTACCTGGCC
ATAGCTGGGCTACTGGCCATCACTGCTGTATACACAGTTGCTGGTGGCCTGGCTGCTGTG
ATCTACACGGATGCCCTGCAGACGCTGATCATGCTTATAGGAGCGCTCACCTTGATGGGC
TACAGTTTCGCCGCGGTTGGTGGGATGGAAGGACTGAAGGAGAAGTACTTCTTGGCCCTG
GCTAGCAACCGGAGTGAGAACAGCAGCTGCGGGCTGCCCCGGGAAGATGCCTTCCATATT
TTCCGAGATCCGCTGACATCTGATCTCCCGTGGCCGGGGGTCCTATTTGGAATGTCCATC
CCATCCCTCTGGTACTGGTGCACGGATCAGGTGATTGTCCAGCGGACTCTGGCTGCCAAG
AACCTGTCCCATGCCAAAGGAGGTGCTCTGATGGCTGCATACCTGAAGGTGCTGCCCCTC
TTCATAATGGTGTTCCCTGGGATGGTCAGCCGCATCCTCTTCCCAGATCAAGTGGCCTGT
GCAGATCCAGAGATCTGCCAGAAGATCTGCAGCAACCCCTCAGGCTGTTCGGACATTGCG
TATCCCAAACTCGTGCTGGAACTCCTGCCCACAGGGCTCCGTGGGCTGATGATGGCTGTG
ATGGTGGCGGCTCTCATGTCCTCCCTCACCTCCATCTTTAACAGTGCCAGCACCATCTTC
ACCATGGACCTCTGGAATCACCTCCGGCCTCGGGCATCTGAGAAGGAGCTCATGATTGTG
GGCAGGGTGTTTGTGCTGCTGCTGGTCCTGGTCTCCATCCTCTGGATCCCTGTGGTCCAG
GCCAGCCAGGGCGGCCAGCTCTTCATCTATATCCAGTCCATCAGCTCCTACCTGCAGCCG
CCTGTGGCGGTGGTCTTCATCATGGGATGTTTCTGGAAGAGGACCAATGAAAAGGGTGCC
TTCTGGGGCCTGATCTCGGGCCTGCTCCTGGGTTTGGTTAGGCTGGTCCTGGACTTTATT
TACGTGCAGCCTCGATGCGACCAGCCAGATGAGCGCCCGGTCCTGGTGAAGAGCATTCAC
TACCTCTACTTCTCCATGATCCTGTCCACGGTCACCCTCATCACTGTCTCCACCGTGAGC
TGGTTCACAGAGCCACCCTCCAAGGAGATGGTCAGCCACCTGACCTGGTTTACTCGTCAC
GACCCCGTGGTCCAGAAGGAACAAGCACCACCAGCAGCTCCCTTGTCTCTTACCCTCTCT
CAGAACGGGATGCCAGAGGCCAGCAGCAGCAGCAGCGTCCAGTTCGAGATGGTTCAAGAA
AACACGTCTAAAACCCACAGCTGTGACATGACCCCAAAGCAGTCCAAAGTGGTGAAGGCC
ATCCTGTGGCTCTGTGGAATACAGGAGAAGGGCAAGGAAGAGCTCCCGGCCAGAGCAGAA
GCCATCATAGTTTCCCTGGAAGAAAACCCCTTGGTGAAGACCCTCCTGGACGTCAACCTC
ATTTTCTGCGTGAGCTGCGCCATCTTTATCTGGGGCTATTTTGCTTAG
|
| Enzyme 124 GenBank Gene ID |
AF292385  |
| Enzyme 124 GeneCard ID |
SLC5A11  |
| Enzyme 124 GenAtlas ID |
SLC5A11  |
| Enzyme 124 HGNC ID |
HGNC:23091  |
| Enzyme 124 Chromosome Location |
1 |
| Enzyme 124 Locus |
16pter-p11 |
| Enzyme 124 SNPs |
SNPJam Report  |
| Enzyme 124 General References |
- Roll P, Massacrier A, Pereira S, Robaglia-Schlupp A, Cau P, Szepetowski P: New human sodium/glucose cotransporter gene (KST1): identification, characterization, and mutation analysis in ICCA (infantile convulsions and choreoathetosis) and BFIC (benign familial infantile convulsions) families. Gene. 2002 Feb 20;285(1-2):141-8. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Groenen PM, Klootwijk R, Schijvenaars MM, Straatman H, Mariman EC, Franke B, Steegers-Theunissen RP: Spina bifida and genetic factors related to myo-inositol, glucose, and zinc. Mol Genet Metab. 2004 Jun;82(2):154-61. [PubMed
]
- Tsai LJ, Hsiao SH, Tsai LM, Lin CY, Tsai JJ, Liou DM, Lan JL: The sodium-dependent glucose cotransporter SLC5A11 as an autoimmune modifier gene in SLE. Tissue Antigens. 2008 Feb;71(2):114-26. Epub 2007 Dec 6. [PubMed
]
|
| Enzyme 124 Metabolite References |
Not Available |
|
Enzyme 125
[top]
|
| Enzyme 125 ID |
12508 |
| Enzyme 125 Name |
Sodium/hydrogen exchanger 4 |
| Enzyme 125 Synonyms |
- Na(+)/H(+) exchanger 4
- NHE-4
- Solute carrier family 9 member 4
|
| Enzyme 125 Gene Name |
SLC9A4 |
| Enzyme 125 Protein Sequence |
>Sodium/hydrogen exchanger 4
MALQMFVTYSPWNCLLLLVALECSEASSDLNESANSTAQYASNAWFAAASSEPEEGISVF
ELDYDYVQIPYEVTLWILLASLAKIGFHLYHRLPGLMPESCLLILVGALVGGIIFGTDHK
SPPVMDSSIYFLYLLPPIVLEGGYFMPTRPFFENIGSILWWAVLGALINALGIGLSLYLI
CQVKAFGLGDVNLLQNLLFGSLISAVDPVAVLAVFEEARVNEQLYMMIFGEALLNDGITV
VLYNMLIAFTKMHKFEDIETVDILAGCARFIVVGLGGVLFGIVFGFISAFITRFTQNISA
IEPLIVFMFSYLSYLAAETLYLSGILAITACAVTMKKYVEENVSQTSYTTIKYFMKMLSS
VSETLIFIFMGVSTVGKNHEWNWAFICFTLAFCQIWRAISVFALFYISNQFRTFPFSIKD
QCIIFYSGVRGAGSFSLAFLLPLSLFPRKKMFVTATLVVIYFTVFIQGITVGPLVRYLDV
KKTNKKESINEELHIRLMDHLKAGIEDVCGHWSHYQVRDKFKKFDHRYLRKILIRKNLPK
SSIVSLYKKLEMKQAIEMVETGILSSTAFSIPHQAQRIQGIKRLSPEDVESIRDILTSNM
YQVRQRTLSYNKYNLKPQTSEKQAKEILIRRQNTLRESMRKGHSLPWGKPAGTKNIRYLS
YPYGNPQSAGRDTRAAGFSDDDSSDPGSPSITFSACSRIGSLQKQEAQEIIPMKSLHRGR
KAFSFGYQRNTSQEEYLGGVRRVALRPKPLFHAVDEEGESGGESEGKASLVEVRSRWTAD
HGHGRDHHRSHSPLLQKK
|
| Enzyme 125 Number of Residues |
798 |
| Enzyme 125 Molecular Weight |
89813.4 |
| Enzyme 125 Theoretical pI |
8.72 |
| Enzyme 125 GO Classification |
| Function |
- cation transmembrane transporter activity
- hydrogen ion transmembrane transporter activity
- inorganic cation transmembrane transporter activity
- ion transmembrane transporter activity
- monovalent cation:hydrogen antiporter activity
- monovalent inorganic cation transmembrane transporter activity
- sodium:hydrogen antiporter activity
- solute:cation antiporter activity
- solute:hydrogen antiporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- biological regulation
- cation homeostasis
- cation transport
- chemical homeostasis
- establishment of localization
- homeostatic process
- ion homeostasis
- ion transport
- monovalent inorganic cation homeostasis
- monovalent inorganic cation transport
- regulation of biological quality
- regulation of pH
- sodium ion transport
- transmembrane transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane part
|
|
| Enzyme 125 General Function |
Involved in solute:hydrogen antiporter activity |
| Enzyme 125 Specific Function |
Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction. May play a specialized role in the kidney in rectifying cell volume in response to extreme fluctuations of hyperosmolar-stimulated cell shrinkage. Is relatively amiloride and ethylisopropylamiloride (EIPA) insensitive. Can be activated under conditions of hyperosmolar-induced cell shrinkage in a sustained intracellular acidification-dependence manner. Activated by 4,4'-diisothiocyanostilbene-2,2'-disulfonic acid (DIDS) in a sustained intracellular acidification-dependence manner. Affects potassium/proton exchange as well as sodium/proton and lithium/proton exchange. In basolateral cell membrane, participates in homeostatic control of intracellular pH, and may play a role in proton extrusion in order to achieve transepithelial HCO3(-) secretion. In apical cell membrane may be involved in mediating sodium absorption. Requires for normal levels of gastric acid secretion, secretory membrane development, parietal cell maturation and/or differentiation and at least secondarily for chief cell differentiation |
| Enzyme 125 Pathways |
Not Available |
| Enzyme 125 Reactions |
Not Available |
| Enzyme 125 Pfam Domain Function |
|
| Enzyme 125 Signals |
|
| Enzyme 125 Transmembrane Regions |
- 95-115
128-148
155-175
197-217
227-247
271-291
305-325
357-373
385-405
451-471
|
| Enzyme 125 Essentiality |
Not Available |
| Enzyme 125 GenBank ID Protein |
148727259  |
| Enzyme 125 UniProtKB/Swiss-Prot ID |
Q6AI14  |
| Enzyme 125 UniProtKB/Swiss-Prot Entry Name |
SL9A4_HUMAN  |
| Enzyme 125 PDB ID |
Not Available |
| Enzyme 125 Cellular Location |
Not Available |
| Enzyme 125 Gene Sequence |
>2397 bp
ATGGCTCTGCAGATGTTCGTGACTTACAGTCCTTGGAATTGTTTGCTACTGCTAGTGGCT
CTTGAGTGTTCTGAAGCATCTTCTGATTTGAATGAATCTGCAAATTCCACTGCTCAGTAT
GCATCTAACGCTTGGTTTGCTGCTGCCAGCTCAGAGCCAGAGGAAGGGATATCTGTTTTT
GAACTGGATTATGACTATGTGCAAATTCCTTATGAGGTCACTCTCTGGATACTTCTAGCA
TCCCTTGCAAAAATAGGCTTCCACCTCTACCACAGGCTGCCAGGCCTCATGCCAGAAAGC
TGCCTCCTCATCCTGGTGGGGGCGCTGGTGGGCGGCATCATCTTCGGCACCGACCACAAA
TCGCCTCCGGTCATGGACTCCAGCATCTACTTCCTGTATCTCCTGCCACCCATCGTTCTG
GAGGGCGGCTACTTCATGCCCACCCGGCCCTTCTTTGAGAACATCGGCTCCATCCTGTGG
TGGGCAGTATTGGGGGCCCTGATCAACGCCTTGGGCATTGGCCTCTCCCTCTACCTCATC
TGCCAGGTGAAGGCCTTTGGCCTGGGCGACGTCAACCTGCTGCAGAACCTGCTGTTCGGC
AGCCTGATCTCCGCCGTGGACCCAGTGGCCGTGCTAGCCGTGTTTGAGGAAGCGCGCGTG
AACGAGCAGCTCTACATGATGATCTTTGGGGAGGCCCTGCTCAATGATGGCATTACTGTG
GTCTTATACAATATGTTAATTGCCTTTACAAAGATGCATAAATTTGAAGACATAGAAACT
GTCGACATTTTGGCTGGATGTGCCCGATTCATCGTTGTGGGGCTTGGAGGGGTATTGTTT
GGCATCGTTTTTGGATTTATTTCTGCATTTATCACACGTTTCACTCAGAATATCTCTGCA
ATTGAGCCACTCATCGTCTTCATGTTCAGCTATTTGTCTTACTTAGCTGCTGAAACCCTC
TATCTCTCCGGCATCCTGGCAATCACAGCCTGCGCAGTAACAATGAAAAAGTACGTGGAA
GAAAACGTGTCCCAGACATCATACACGACCATCAAGTACTTCATGAAGATGCTGAGCAGC
GTCAGCGAGACCTTGATCTTCATCTTCATGGGTGTGTCCACTGTGGGCAAGAATCACGAG
TGGAACTGGGCCTTCATCTGCTTCACCCTGGCCTTCTGCCAAATCTGGAGAGCCATCAGC
GTATTTGCTCTCTTCTATATCAGTAACCAGTTTCGGACTTTCCCCTTCTCCATCAAGGAC
CAGTGCATCATTTTCTACAGTGGTGTTCGAGGAGCTGGAAGTTTTTCACTTGCATTTTTG
CTTCCTCTGTCTCTTTTTCCTAGGAAGAAAATGTTTGTCACTGCTACTCTAGTAGTTATA
TACTTTACTGTATTTATTCAGGGAATCACAGTTGGCCCTCTGGTCAGGTACCTGGATGTT
AAAAAAACCAATAAAAAAGAATCCATCAATGAAGAGCTTCATATTCGTCTGATGGATCAC
TTAAAGGCTGGAATCGAAGATGTGTGTGGGCACTGGAGTCACTACCAAGTGAGAGACAAG
TTTAAGAAGTTTGATCATAGATACTTACGGAAAATCCTCATCAGAAAGAACCTACCCAAA
TCAAGCATTGTTTCTTTGTACAAGAAGCTGGAAATGAAGCAAGCCATCGAGATGGTGGAG
ACTGGGATACTGAGCTCTACAGCTTTCTCCATACCCCATCAGGCCCAGAGGATACAAGGA
ATCAAAAGACTTTCCCCTGAAGATGTGGAGTCCATAAGGGACATTCTGACATCCAACATG
TACCAAGTTCGGCAAAGGACCCTGTCCTACAACAAATACAACCTCAAACCCCAAACAAGT
GAGAAGCAGGCTAAAGAGATTCTGATCCGCCGCCAGAACACCTTAAGGGAGAGCATGAGG
AAAGGTCACAGCCTGCCCTGGGGAAAGCCGGCTGGCACCAAGAATATCCGCTACCTCTCC
TACCCCTACGGGAATCCTCAGTCTGCAGGAAGAGACACAAGGGCTGCTGGGTTCTCAGAT
GATGACAGCAGTGATCCAGGATCCCCATCCATCACGTTCAGCGCATGCTCTCGGATAGGG
TCACTTCAGAAGCAAGAGGCACAAGAAATAATACCAATGAAGAGCCTACACAGAGGAAGG
AAGGCATTCAGCTTTGGTTATCAAAGAAACACAAGCCAAGAAGAGTACTTGGGTGGAGTA
AGGAGGGTGGCCTTAAGACCCAAACCTCTGTTTCATGCAGTGGATGAGGAGGGTGAGTCT
GGAGGGGAGAGTGAGGGCAAGGCCTCTTTGGTTGAGGTTCGGTCGAGGTGGACAGCTGAC
CATGGACACGGCAGGGACCATCACAGGTCCCATAGTCCTTTGCTCCAAAAAAAATAG
|
| Enzyme 125 GenBank Gene ID |
NM_001011552.3  |
| Enzyme 125 GeneCard ID |
SLC9A4  |
| Enzyme 125 GenAtlas ID |
SLC9A4  |
| Enzyme 125 HGNC ID |
HGNC:11077  |
| Enzyme 125 Chromosome Location |
2 |
| Enzyme 125 Locus |
2q12.1 |
| Enzyme 125 SNPs |
SNPJam Report  |
| Enzyme 125 General References |
- Bechtel S, Rosenfelder H, Duda A, Schmidt CP, Ernst U, Wellenreuther R, Mehrle A, Schuster C, Bahr A, Blocker H, Heubner D, Hoerlein A, Michel G, Wedler H, Kohrer K, Ottenwalder B, Poustka A, Wiemann S, Schupp I: The full-ORF clone resource of the German cDNA Consortium. BMC Genomics. 2007 Oct 31;8:399. [PubMed
]
- Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK: Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434(7034):724-31. [PubMed
]
- Denis NJ, Vasilescu J, Lambert JP, Smith JC, Figeys D: Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry. Proteomics. 2007 Mar;7(6):868-74. [PubMed
]
|
| Enzyme 125 Metabolite References |
Not Available |
|
Enzyme 126
[top]
|
| Enzyme 126 ID |
12939 |
| Enzyme 126 Name |
Lipase member H |
| Enzyme 126 Synonyms |
- LPD lipase-related protein
- Membrane-associated phosphatidic acid-selective phospholipase A1-alpha
- mPA-PLA1 alpha
- Phospholipase A1 member B
|
| Enzyme 126 Gene Name |
LIPH |
| Enzyme 126 Protein Sequence |
>Lipase member H
MLRFYLFISLLCLSRSDAEETCPSFTRLSFHSAVVGTGLNVRLMLYTRKNLTCAQTINSS
AFGNLNVTKKTTFIVHGFRPTGSPPVWMDDLVKGLLSVEDMNVVVVDWNRGATTLIYTHA
SSKTRKVAMVLKEFIDQMLAEGASLDDIYMIGVSLGAHISGFVGEMYDGWLGRITGLDPA
GPLFNGKPHQDRLDPSDAQFVDVIHSDTDALGYKEPLGNIDFYPNGGLDQPGCPKTILGG
FQYFKCDHQRSVYLYLSSLRESCTITAYPCDSYQDYRNGKCVSCGTSQKESCPLLGYYAD
NWKDHLRGKDPPMTKAFFDTAEESPFCMYHYFVDIITWNKNVRRGDITIKLRDKAGNTTE
SKINHEPTTFQKYHQVSLLARFNQDLDKVAAISLMFSTGSLIGPRYKLRILRMKLRSLAH
PERPQLCRYDLVLMENVETVFQPILCPELQL
|
| Enzyme 126 Number of Residues |
451 |
| Enzyme 126 Molecular Weight |
50858.9 |
| Enzyme 126 Theoretical pI |
7.46 |
| Enzyme 126 GO Classification |
| Function |
|
| Process |
- lipid metabolic process
- metabolic process
- primary metabolic process
|
| Component |
| — |
|
| Enzyme 126 General Function |
Involved in catalytic activity |
| Enzyme 126 Specific Function |
Hydrolyzes specifically phosphatidic acid (PA) to produce lysophosphatidic acid (LPA) |
| Enzyme 126 Pathways |
Not Available |
| Enzyme 126 Reactions |
Not Available |
| Enzyme 126 Pfam Domain Function |
|
| Enzyme 126 Signals |
|
| Enzyme 126 Transmembrane Regions |
|
| Enzyme 126 Essentiality |
Not Available |
| Enzyme 126 GenBank ID Protein |
21245106  |
| Enzyme 126 UniProtKB/Swiss-Prot ID |
Q8WWY8  |
| Enzyme 126 UniProtKB/Swiss-Prot Entry Name |
LIPH_HUMAN  |
| Enzyme 126 PDB ID |
Not Available |
| Enzyme 126 Cellular Location |
Not Available |
| Enzyme 126 Gene Sequence |
>1356 bp
ATGTTGAGATTCTACTTATTCATCAGTTTGTTGTGCTTGTCAAGATCAGACGCAGAAGAA
ACATGTCCTTCATTCACCAGGCTGAGCTTTCACAGTGCAGTGGTTGGTACGGGACTAAAT
GTGAGGCTGATGCTCTACACAAGGAAAAACCTGACCTGCGCACAAACCATCAACTCCTCA
GCTTTTGGGAACTTGAATGTGACCAAGAAAACCACCTTCATTGTCCATGGATTCAGGCCA
ACAGGCTCCCCTCCTGTTTGGATGGATGACTTAGTAAAGGGTTTGCTCTCTGTTGAAGAC
ATGAACGTAGTTGTTGTTGATTGGAATCGAGGAGCTACAACTTTAATATATACCCATGCC
TCTAGTAAGACCAGAAAAGTAGCCATGGTCTTGAAGGAATTTATTGACCAGATGTTGGCA
GAAGGAGCTTCTCTTGATGACATTTACATGATCGGAGTAAGTCTAGGAGCCCACATATCT
GGGTTTGTTGGAGAGATGTACGATGGATGGCTGGGGAGAATTACAGGCCTCGACCCTGCA
GGCCCTTTATTCAACGGGAAACCTCACCAAGACAGATTAGATCCCAGTGATGCGCAGTTT
GTTGATGTCATCCATTCCGACACTGATGCACTGGGCTACAAGGAGCCATTAGGAAACATA
GACTTCTACCCAAATGGAGGATTGGATCAACCTGGCTGCCCCAAAACAATATTGGGAGGA
TTTCAGTATTTTAAATGTGACCACCAGAGGTCTGTATACCTGTACCTGTCTTCCCTGAGA
GAGAGCTGCACCATCACTGCGTATCCCTGTGACTCCTACCAGGATTATAGGAATGGCAAG
TGTGTCAGCTGCGGCACGTCACAAAAAGAGTCCTGTCCCCTTCTGGGCTATTATGCTGAT
AATTGGAAAGACCATCTAAGGGGGAAAGATCCTCCAATGACGAAGGCATTCTTTGACACA
GCTGAGGAGAGCCCATTCTGCATGTATCATTACTTTGTGGATATTATAACATGGAACAAG
AATGTAAGAAGAGGGGACATTACCATCAAATTGAGAGACAAAGCTGGAAACACCACAGAA
TCCAAAATCAATCATGAACCCACCACATTTCAGAAATATCACCAAGTGAGTCTACTTGCA
AGATTTAATCAAGATCTGGATAAAGTGGCTGCAATTTCCTTGATGTTCTCTACAGGATCT
CTAATAGGCCCAAGGTACAAGCTCAGGATTCTCCGAATGAAGTTAAGGTCCCTTGCCCAT
CCGGAGAGGCCTCAGCTGTGTCGGTATGATCTTGTCCTGATGGAAAACGTTGAAACAGTC
TTCCAACCTATTCTTTGCCCAGAGTTGCAGTTGTAA
|
| Enzyme 126 GenBank Gene ID |
NM_139248.2  |
| Enzyme 126 GeneCard ID |
LIPH  |
| Enzyme 126 GenAtlas ID |
LIPH  |
| Enzyme 126 HGNC ID |
HGNC:18483  |
| Enzyme 126 Chromosome Location |
3 |
| Enzyme 126 Locus |
3q27 |
| Enzyme 126 SNPs |
SNPJam Report  |
| Enzyme 126 General References |
- Sonoda H, Aoki J, Hiramatsu T, Ishida M, Bandoh K, Nagai Y, Taguchi R, Inoue K, Arai H: A novel phosphatidic acid-selective phospholipase A1 that produces lysophosphatidic acid. J Biol Chem. 2002 Sep 13;277(37):34254-63. Epub 2002 Jun 12. [PubMed
]
- Jin W, Broedl UC, Monajemi H, Glick JM, Rader DJ: Lipase H, a new member of the triglyceride lipase family synthesized by the intestine. Genomics. 2002 Sep;80(3):268-73. [PubMed
]
- Kazantseva A, Goltsov A, Zinchenko R, Grigorenko AP, Abrukova AV, Moliaka YK, Kirillov AG, Guo Z, Lyle S, Ginter EK, Rogaev EI: Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH. Science. 2006 Nov 10;314(5801):982-5. [PubMed
]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Wen XY, Hegele RA, Wang J, Wang DY, Cheung J, Wilson M, Yahyapour M, Bai Y, Zhuang L, Skaug J, Young TK, Connelly PW, Koop BF, Tsui LC, Stewart AK: Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans. Hum Mol Genet. 2003 May 15;12(10):1131-43. [PubMed
]
- Hiramatsu T, Sonoda H, Takanezawa Y, Morikawa R, Ishida M, Kasahara K, Sanai Y, Taguchi R, Aoki J, Arai H: Biochemical and molecular characterization of two phosphatidic acid-selective phospholipase A1s, mPA-PLA1alpha and mPA-PLA1beta. J Biol Chem. 2003 Dec 5;278(49):49438-47. Epub 2003 Sep 8. [PubMed
]
- Naz G, Khan B, Ali G, Azeem Z, Wali A, Ansar M, Ahmad W: Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2). J Dermatol Sci. 2009 Apr;54(1):12-6. Epub 2009 Jan 23. [PubMed
]
- Shimomura Y, Wajid M, Petukhova L, Shapiro L, Christiano AM: Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. J Invest Dermatol. 2009 Mar;129(3):622-8. Epub 2008 Oct 2. [PubMed
]
|
| Enzyme 126 Metabolite References |
Not Available |
|
Enzyme 127
[top]
|
| Enzyme 127 ID |
12940 |
| Enzyme 127 Name |
Lipase member I |
| Enzyme 127 Synonyms |
- Cancer/testis antigen 17
- CT17
- LPD lipase
- Membrane-associated phosphatidic acid-selective phospholipase A1-beta
- mPA-PLA1 beta
|
| Enzyme 127 Gene Name |
LIPI |
| Enzyme 127 Protein Sequence |
>Lipase member I
MRVYIFLCLMCWVRSDNKRPCLEFSQLSVKDSFRDLFIPRIETILMMYTRNNLNCAEPLF
EQNNSLNVNFNTQKKTVWLIHGYRPVGSIPLWLQNFVRILLNEEDMNVIVVDWSRGATTF
IYNRAVKNTRKVAVSLSVHIKNLLKHGASLDNFHFIGVSLGAHISGFVGKIFHGQLGRIT
GLDPAGPRFSRKPPYSRLDYTDAKFVDVIHSDSNGLGIQEPLGHIDFYPNGGNKQPGCPK
SIFSGIQFIKCNHQRAVHLFMASLETNCNFISFPCRSYKDYKTSLCVDCDCFKEKSCPRL
GYQAKLFKGVLKERMEGRPLRTTVFLDTSGTYPFCTYYFVLSIIVPDKTMMDGSFSFKLL
NQLGMIEEPRLYEKNKPFYKLQEVKILAQFYNDFVNISSIGLTYFQSSNLQCSTCTYKIQ
RLMLKSLTYPERPPLCRYNIVLKDREEVFLNPNTCTPKNT
|
| Enzyme 127 Number of Residues |
460 |
| Enzyme 127 Molecular Weight |
52991.0 |
| Enzyme 127 Theoretical pI |
9.28 |
| Enzyme 127 GO Classification |
| Function |
|
| Process |
- lipid metabolic process
- metabolic process
- primary metabolic process
|
| Component |
| — |
|
| Enzyme 127 General Function |
Involved in catalytic activity |
| Enzyme 127 Specific Function |
Hydrolyzes specifically phosphatidic acid (PA) to produce lysophosphatidic acid (LPA) |
| Enzyme 127 Pathways |
Not Available |
| Enzyme 127 Reactions |
Not Available |
| Enzyme 127 Pfam Domain Function |
|
| Enzyme 127 Signals |
|
| Enzyme 127 Transmembrane Regions |
|
| Enzyme 127 Essentiality |
Not Available |
| Enzyme 127 GenBank ID Protein |
39752679  |
| Enzyme 127 UniProtKB/Swiss-Prot ID |
Q6XZB0  |
| Enzyme 127 UniProtKB/Swiss-Prot Entry Name |
LIPI_HUMAN  |
| Enzyme 127 PDB ID |
Not Available |
| Enzyme 127 Cellular Location |
Not Available |
| Enzyme 127 Gene Sequence |
>1446 bp
ATGTTGCTCAAATGTTTACATAATAACTTGTGCCAAAAATATAGTGCTCATGCTTTTCAG
TTCTCACCCAGAAATGTCCTGTGGCTTCTAGTTGTGTGCCTGAGATCAGATAATAAAAGA
CCATGCCTTGAATTCTCTCAGCTAAGTGTAAAGGATTCCTTCAGAGATTTATTTATTCCG
AGAATAGAGACCATTCTGATGATGTATACAAGGAACAACCTAAACTGTGCTGAGCCACTG
TTTGAACAAAATAACTCACTTAATGTTAATTTCAACACACAAAAGAAAACAGTCTGGCTT
ATTCACGGATACAGACCAGTAGGCTCCATCCCATTATGGCTTCAGAACTTCGTAAGGATT
TTGCTGAATGAAGAAGATATGAATGTAATTGTAGTAGACTGGAGCCGGGGTGCTACAACT
TTTATTTATAATAGAGCAGTTAAAAACACCAGAAAAGTTGCTGTGAGTTTGAGTGTGCAC
ATTAAAAATCTTTTGAAGCATGGTGCATCTCTTGACAATTTTCATTTCATAGGTGTGAGC
TTAGGGGCTCATATCAGTGGATTTGTTGGAAAGATATTTCATGGTCAACTTGGAAGAATA
ACAGGTCTTGACCCTGCTGGGCCAAGGTTCTCCAGAAAACCACCATATAGCAGATTAGAT
TACACGGATGCAAAGTTTGTGGATGTCATCCATTCTGACTCCAATGGTTTAGGCATTCAA
GAGCCCTTGGGACATATAGATTTTTATCCAAATGGAGGAAATAAACAACCTGGCTGTCCT
AAATCAATTTTCTCAGGAATTCAATTCATTAAATGCAACCACCAGAGAGCAGTTCACTTG
TTCATGGCATCTTTAGAAACAAACTGCAATTTTATTTCATTTCCTTGTCGTTCATACAAA
GATTACAAGACTAGCTTATGTGTGGACTGTGACTGTTTTAAGGAAAAATCATGTCCTCGG
CTGGGTTATCAAGCCAAGCTATTTAAAGGTGTTTTAAAAGAAAGGATGGAAGGAAGACCT
CTTAGGACCACTGTGTTTTTGGATACAAGTGGTACATATCCATTCTGTACCTATTATTTT
GTTCTCAGTATAATTGTTCCAGATAAAACTATGATGGATGGCTCGTTTTCATTTAAATTA
TTAAATCAGCTTGGAATGATTGAAGAGCCAAGGCTTTATGAAAAGAACAAACCATTTTAT
AAACTTCAAGAAGTCAAGATTCTTGCTCAATTTTATAATGACTTTGTAAATATTTCAAGC
ATTGGTTTGACATATTTCCAGAGCTCAAATCTGCAGTGTTCCACATGCACATACAAGATC
CAGAGACTCATGTTAAAATCACTTACATACCCAGAAAGACCACCACTTTGCAGGTATAAT
ATTGTACTTAAAGACAGAGAGGAAGTGTTTCTTAATCCAAACACATGTACACCAAAGAAC
ACATAA
|
| Enzyme 127 GenBank Gene ID |
Not Available |
| Enzyme 127 GeneCard ID |
LIPI  |
| Enzyme 127 GenAtlas ID |
LIPI  |
| Enzyme 127 HGNC ID |
HGNC:18821  |
| Enzyme 127 Chromosome Location |
2 |
| Enzyme 127 Locus |
21q11.2 |
| Enzyme 127 SNPs |
SNPJam Report  |
| Enzyme 127 General References |
- Hiramatsu T, Sonoda H, Takanezawa Y, Morikawa R, Ishida M, Kasahara K, Sanai Y, Taguchi R, Aoki J, Arai H: Biochemical and molecular characterization of two phosphatidic acid-selective phospholipase A1s, mPA-PLA1alpha and mPA-PLA1beta. J Biol Chem. 2003 Dec 5;278(49):49438-47. Epub 2003 Sep 8. [PubMed
]
- Wen XY, Hegele RA, Wang J, Wang DY, Cheung J, Wilson M, Yahyapour M, Bai Y, Zhuang L, Skaug J, Young TK, Connelly PW, Koop BF, Tsui LC, Stewart AK: Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans. Hum Mol Genet. 2003 May 15;12(10):1131-43. [PubMed
]
- Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS, Toyoda A, Ishii K, Totoki Y, Choi DK, Groner Y, Soeda E, Ohki M, Takagi T, Sakaki Y, Taudien S, Blechschmidt K, Polley A, Menzel U, Delabar J, Kumpf K, Lehmann R, Patterson D, Reichwald K, Rump A, Schillhabel M, Schudy A, Zimmermann W, Rosenthal A, Kudoh J, Schibuya K, Kawasaki K, Asakawa S, Shintani A, Sasaki T, Nagamine K, Mitsuyama S, Antonarakis SE, Minoshima S, Shimizu N, Nordsiek G, Hornischer K, Brant P, Scharfe M, Schon O, Desario A, Reichelt J, Kauer G, Blocker H, Ramser J, Beck A, Klages S, Hennig S, Riesselmann L, Dagand E, Haaf T, Wehrmeyer S, Borzym K, Gardiner K, Nizetic D, Francis F, Lehrach H, Reinhardt R, Yaspo ML: The DNA sequence of human chromosome 21. Nature. 2000 May 18;405(6784):311-9. [PubMed
]
- Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. Science. 2007 May 25;316(5828):1160-6. [PubMed
]
|
| Enzyme 127 Metabolite References |
Not Available |
|
Enzyme 128
[top]
|
| Enzyme 128 ID |
13138 |
| Enzyme 128 Name |
Sodium/hydrogen exchanger 10 |
| Enzyme 128 Synonyms |
- Na(+)/H(+) exchanger 10
- NHE-10
- Solute carrier family 9 member 10
- Sperm-specific Na(+)/H(+) exchanger
- sNHE
|
| Enzyme 128 Gene Name |
SLC9A10 |
| Enzyme 128 Protein Sequence |
>Sodium/hydrogen exchanger 10
MAGIFKEFFFSTEDLPEVILTLSLISSIGAFLNRHLEDFPIPVPVILFLLGCSFEVLSFT
SSQVQRYANAIQWMSPDLFFRIFTPVVFFTTAFDMDTYMLQKLFWQILLISIPGFLVNYI
LVLWHLASVNQLLLKPTQWLLFSAILVSSDPMLTAAAIRDLGLSRSLISLINGESLMTSV
ISLITFTSIMDFDQRLQSKRNHTLAEEIVGGICSYIIASFLFGILSSKLIQFWMSTVFGD
DVNHISLIFSILYLIFYICELVGMSGIFTLAIVGLLLNSTSFKAAIEETLLLEFWTFLSR
IAFLMVFTFFGLLIPAHTYLYIEFVDIYYSLNIYLTLIVLRFLTLLLISPVLSRVGHEFS
WRWIFIMVCSEMKGMPNINMALLLAYSDLYFGSDKEKSQILFHGVLVCLITLVVNRFILP
VAVTILGLRDATSTKYKSVCCTFQHFQELTKSAASALKFDKDLANADWNMIEKAITLENP
YMLNEEETTEHQKVKCPHCNKEIDEIFNTEAMELANRRLLSAQIASYQRQYRNEILSQSA
VQVLVGAAESFGEKKGKCMSLDTIKNYSESQKTVTFARKLLLNWVYNTRKEKEGPSKYFF
FRICHTIVFTEEFEHVGYLVILMNIFPFIISWISQLNVIYHSELKHTNYCFLTLYILEAL
LKIAAMRKDFFSHAWNIFELAITLIGILHVILIEIDTIKYIFNETEVIVFIKVVQFFRIL
RIFKLIAPKLLQIIDKRMSHQKTFWYGILKGYVQGEADIMTIIDQITSSKQIKQMLLKQV
IRNMEHAIKELGYLEYDHPEIAVTVKTKEEINVMLNMATEILKAFGLKGIISKTEGAGIN
KLIMAKKKEVLDSQSIIRPLTVEEVLYHIPWLDKNKDYINFIQEKAKVVTFDCGNDIFEE
GDEPKGIYIIISGMVKLEKSKPGLGIDQMVESKEKDFPIIDTDYMLSGEIIGEINCLTNE
PMKYSATCKTVVETCFIPKTHLYDAFEQCSPLIKQKMWLKLGLAITARKIREHLSYEDWN
YNMQLKLSNIYVVDIPMSTKTDIYDENLIYVILIHGAVEDCLLRKTYRAPFLIPITCHQI
QSIEDFTKVVIIQTPINMKTFRRNIRKFVPKHKSYLTPGLIGSVGTLEEGIQEERNVKED
GAHSAATARSPQPCSLLGTKFNCKESPRINLRKVRKE
|
| Enzyme 128 Number of Residues |
1177 |
| Enzyme 128 Molecular Weight |
135204.6 |
| Enzyme 128 Theoretical pI |
7.14 |
| Enzyme 128 GO Classification |
| Function |
- cation transmembrane transporter activity
- ion transmembrane transporter activity
- solute:cation antiporter activity
- solute:hydrogen antiporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- cation transport
- establishment of localization
- ion transport
- transmembrane transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane part
|
|
| Enzyme 128 General Function |
Involved in solute:hydrogen antiporter activity |
| Enzyme 128 Specific Function |
Sperm-specific sodium/hydrogen exchanger involved in intracellular pH regulation of spermatozoa. Required for sperm motility and fertility. Involved in sperm cell hyperactivation, a step needed for sperm motility which is essential late in the preparation of sperm for fertilization. Required for the expression and bicarbonate regulation of the soluble adenylyl cyclase (sAC) |
| Enzyme 128 Pathways |
Not Available |
| Enzyme 128 Reactions |
Not Available |
| Enzyme 128 Pfam Domain Function |
|
| Enzyme 128 Signals |
|
| Enzyme 128 Transmembrane Regions |
- 8-28
39-59
73-93
103-123
138-158
167-187
204-224
248-268
301-321
333-353
364-384
405-425
613-633
646-666
675-695
707-727
|
| Enzyme 128 Essentiality |
Not Available |
| Enzyme 128 GenBank ID Protein |
34535281  |
| Enzyme 128 UniProtKB/Swiss-Prot ID |
Q4G0N8  |
| Enzyme 128 UniProtKB/Swiss-Prot Entry Name |
S9A10_HUMAN  |
| Enzyme 128 PDB ID |
Not Available |
| Enzyme 128 Cellular Location |
Not Available |
| Enzyme 128 Gene Sequence |
>3534 bp
ATGGCTGGAATATTTAAGGAGTTTTTTTTCAGTACTGAGGACCTCCCTGAAGTCATTCTA
ACATTGTCTTTGATCAGCTCCATTGGAGCATTTTTGAACCGGCACTTGGAAGACTTTCCA
ATTCCTGTCCCTGTGATATTATTTTTACTTGGATGCAGTTTTGAAGTATTAAGCTTTACA
TCTTCACAGGTCCAAAGATACGCAAACGCCATACAATGGATAAGTCCAGACTTATTTTTT
CGTATATTTACACCAGTAGTTTTCTTTACTACTGCATTTGACATGGATACGTACATGCTT
CAAAAGTTATTTTGGCAGATACTTTTAATTTCAATTCCCGGCTTTTTGGTTAATTATATC
TTAGTTCTTTGGCATCTGGCATCTGTAAATCAATTACTTTTGAAGCCTACCCAATGGTTA
TTATTTTCAGCTATCCTTGTGAGTTCAGATCCCATGCTAACCGCAGCTGCTGTAAGAGAC
CTTGGGCTTTCTAGAAGCCTCATCAGTTTAATTAATGGAGAAAGTCTGATGACCTCTGTT
ATATCATTAATTACATTTACTAGTATTATGGATTTTGACCAAAGACTACAAAGTAAAAGA
AACCATACCTTAGCTGAAGAGATCGTGGGTGGAATTTGTTCATATATTATAGCAAGTTTC
TTGTTTGGAATTCTAAGTTCAAAACTGATTCAATTTTGGATGTCAACTGTTTTTGGTGAT
GATGTCAATCATATAAGTCTCATCTTTTCAATTCTGTATCTCATCTTTTATATTTGTGAG
TTAGTTGGAATGTCAGGAATATTTACTCTGGCCATTGTGGGACTTCTTTTAAATTCTACA
AGTTTTAAAGCAGCAGTTGAAGAAACACTTCTTCTTGAATTCTGGACTTTTCTATCACGT
ATTGCTTTTCTCATGGTGTTTACTTTCTTTGGACTTCTAATTCCTGCACATACATATTTG
TATATAGAATTTGTTGATATATACTATTCATTAAATATCTACTTAACATTGATTGTTTTA
AGATTTCTGACCCTTCTTTTAATGAGCCCTGTTTTGTCTCGAGTTGGTCATGAGTTCAGT
TGGCGCTGGGTATTCATAATGGTCTGTAGTGAAATGAAAGGGATGCCTAATATAAACATG
GCCCTTCTGCTTGCCTACTCTGATCTTTATTTTGGATCTGACAAAGAAAAATCTCAAATA
TTATTTCATGGAGTGTTAGTATGCCTAATAACCCTTGTTGTCAATAGATTTATTTTGCCA
GTGGCAGTTGCTATACTAGGTCTTCGTGATGCCACATCAACAAAATATAAATCGGTTTGT
TGCACATTTCAACACTTTCAAGAGCTAACCAAGTCTGCAGCCTCTGCCCTTAAATTTGAC
AAAGATCTTGCTAATGCTGATTGGAACATGATTGAGAAAGCAATTACACTTGAAAACCCA
TACATGTTGAACGAAGAAGAAACAACAGAACATCAGAAGGTGAAATGTCCACACTGTAAC
AAGGAAATAGATGAGATCTTTAACACTGAAGCAATGGAGCTGGCCAACAGGCGTCTCTTG
TCAGCACAAATAGCAAGCTACCAGAGACAATACAGGAATGAGATTCTGTCCCAGAGTGCT
GTCCAGGTGTTGGTTGGTGCAGCAGAAAGTTTTGGTGAGAAGAAGGGAAAATGTATGAGT
CTTGATACAATAAAGAATTATTCTGAAAGCCAAAAAACAGTTACCTTTGCTAGAAAACTA
CTACTTAATTGGGTGTATAATACCAGAAAGGAAAAAGAGGGCCCATCAAAATACTTCTTT
TTTCGTATATGCCATACAATAGTATTTACTGAGGAATTTGAACATGTTGGATACCTTGTG
ATATTAATGAATATATTTCCCTTTATAATCTCTTGGATATCCCAGTTAAATGTAATCTAC
CACAGCGAATTAAAACACACTAACTACTGTTTTCTTACACTTTATATTCTAGAGGCACTA
CTTAAGATAGCAGCAATGAGGAAGGACTTTTTTTCACATGCCTGGAACATATTCGAGTTA
GCAATTACATTAATTGGCATCTTACATGTAATACTTATTGAAATAGACACCATTAAGTAT
ATTTTTAATGAGATTGAAGTAATAGTCTTTATAAAAGTTGTTCAATTTTTTCGTATACTA
CGCATTTTCAAGCTCATAGCACCAAAGTTGCTGAAAATAATAGATAAAAGAATGAGTCAT
CAGAAGACCTTTTGGTATGGAATACTAAAAGGCTATGTCCAAGGCGAAGCAGACATAATG
ACCATAATTGATCAGATTACAATTTCTAAACAGATTAAACAGATGTTATTAAAGCAAGTG
ATAAGGAATATGGACCATGCTACAAAAGAGCTAGGCTACTTAGAGTATGATCACCCAGAA
ATTGCTGTCACTGTGAAAACAAAGGAAGAAATTAATGTTATGCTCAATATGGCTACAGAA
ATTCTTAAGGCTTTCAGCTTAAAAGGAATTATTAGTAAAACTGAAGGTGCTGGAATTAAT
AAGTTAATCATGGCCAAAAAGAAAGAGGTGCTTGATTCTCAATCTATTATCAGGCCTCTT
ACTGTTGAAGAAGTTCTATATCATATTCCGTGGCTAGATAAAAACAAAGATTATATAAAC
TTCATTCAGGAAAAAGCCAAAGTTGTAACATTTGATTGTGGAAATGATATATTTGAAGAA
GGTGATGAGCCCAAAGGAATCTATATCATTATTTCAGGCATGGTAAAGCTTGAAAAATCA
AAGCCAGGTTTAGGGATTGATCAAATGGTGGAGTCAAAGGAGAAAGATTTTCCGATAATT
GACACAGACTATATGCTCAGTGGAGAAATAATAGGAGAGATAAACTGCTTAACTAATGAA
CCTATGAAATATTCTGCCACCTGCAAAACTGTAGTGGAGACATGTTTTATTCCCAAAACT
CACTTGTATGATGCTTTTGAGCAATGCTCTCCTCTCATTAAACAAAAAATGTGGCTAAAA
CTTGGACTCGCTATTACAGCCAGAAAAATCAGAGAACACTTATCTTATGAGGATTGGAAC
TACAATATGCAACTAAAGCTCTCTAATATTTATGTAGTAGATATACCAATGAGTACCAAA
ACTGATATTTATGATGAAAATCTAATCTATGTTATCCTCATACATGGAGCTGTAGAAGAT
TGTCTGTTACGAAAAACTTATAGAGCACCTTTCTTAATTCCTATAACATGCCATCAGATA
CAAAGTATTGAAGATTTCACAAAAGTAGTGATTATTCAAACTCCGATTAACATGAAAACA
TTCAGAAGGAATATTAGAAAGTTTGTTCCTAAACATAAAAGTTATCTTACACCAGGATTA
ATAGGTTCAGTTGGAACATTGGAAGAAGGCATTCAAGAAGAAAGAAATGTTAAGGAGGAT
GGAGCACACAGTGCCGCCACTGCCAGGAGTCCCCAGCCTTGCTCCCTGCTGGGGACAAAG
TTCAACTGTAAGGAGTCCCCTAGAATAAACCTAAGGAAAGTCAGGAAAGAGTAA
|
| Enzyme 128 GenBank Gene ID |
AK128084  |
| Enzyme 128 GeneCard ID |
SLC9A10  |
| Enzyme 128 GenAtlas ID |
SLC9A10  |
| Enzyme 128 HGNC ID |
HGNC:31401  |
| Enzyme 128 Chromosome Location |
3 |
| Enzyme 128 Locus |
3q13.2 |
| Enzyme 128 SNPs |
SNPJam Report  |
| Enzyme 128 General References |
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
- Oduru S, Campbell JL, Karri S, Hendry WJ, Khan SA, Williams SC: Gene discovery in the hamster: a comparative genomics approach for gene annotation by sequencing of hamster testis cDNAs. BMC Genomics. 2003 Jun 3;4(1):22. [PubMed
]
|
| Enzyme 128 Metabolite References |
Not Available |
|
Enzyme 129
[top]
|
| Enzyme 129 ID |
13171 |
| Enzyme 129 Name |
Sodium/potassium-transporting ATPase subunit gamma |
| Enzyme 129 Synonyms |
- Na(+)/K(+) ATPase subunit gamma
- FXYD domain-containing ion transport regulator 2
- Sodium pump gamma chain
|
| Enzyme 129 Gene Name |
FXYD2 |
| Enzyme 129 Protein Sequence |
>Sodium/potassium-transporting ATPase subunit gamma
MTGLSMDGGGSPKGDVDPFYYDYETVRNGGLIFAGLAFIVGLLILLSRRFRCGGNKKRRQ
INEDEP
|
| Enzyme 129 Number of Residues |
66 |
| Enzyme 129 Molecular Weight |
7283.3 |
| Enzyme 129 Theoretical pI |
8.47 |
| Enzyme 129 GO Classification |
| Function |
- ion channel activity
- ion transmembrane transporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- ion transport
- transport
|
| Component |
|
|
| Enzyme 129 General Function |
Involved in ion channel activity |
| Enzyme 129 Specific Function |
May be involved in forming the receptor site for cardiac glycoside binding or may modulate the transport function of the sodium ATPase |
| Enzyme 129 Pathways |
Not Available |
| Enzyme 129 Reactions |
Not Available |
| Enzyme 129 Pfam Domain Function |
|
| Enzyme 129 Signals |
|
| Enzyme 129 Transmembrane Regions |
|
| Enzyme 129 Essentiality |
Not Available |
| Enzyme 129 GenBank ID Protein |
11342647  |
| Enzyme 129 UniProtKB/Swiss-Prot ID |
P54710  |
| Enzyme 129 UniProtKB/Swiss-Prot Entry Name |
ATNG_HUMAN  |
| Enzyme 129 PDB ID |
Not Available |
| Enzyme 129 Cellular Location |
Not Available |
| Enzyme 129 Gene Sequence |
>201 bp
ATGACTGGGTTGTCGATGGACGGTGGCGGCAGCCCCAAGGGGGACGTGGACCCGTTCTAC
TATGACTATGAGACCGTTCGCAATGGGGGCCTGATCTTCGCTGGACTGGCCTTCATCGTG
GGGCTCCTCATCCTCCTCAGCAGAAGATTCCGCTGTGGGGGCAATAAGAAGCGCAGGCAA
ATCAATGAAGATGAGCCGTAA
|
| Enzyme 129 GenBank Gene ID |
AF241235  |
| Enzyme 129 GeneCard ID |
FXYD2  |
| Enzyme 129 GenAtlas ID |
FXYD2  |
| Enzyme 129 HGNC ID |
HGNC:4026  |
| Enzyme 129 Chromosome Location |
1 |
| Enzyme 129 Locus |
11q23 |
| Enzyme 129 SNPs |
SNPJam Report  |
| Enzyme 129 General References |
- Kim JW, Lee Y, Lee IA, Kang HB, Choe YK, Choe IS: Cloning and expression of human cDNA encoding Na+, K(+)-ATPase gamma-subunit. Biochim Biophys Acta. 1997 Feb 7;1350(2):133-5. [PubMed
]
- Sweadner KJ, Wetzel RK, Arystarkhova E: Genomic organization of the human FXYD2 gene encoding the gamma subunit of the Na,K-ATPase. Biochem Biophys Res Commun. 2000 Dec 9;279(1):196-201. [PubMed
]
- Meij IC, Koenderink JB, van Bokhoven H, Assink KF, Groenestege WT, de Pont JJ, Bindels RJ, Monnens LA, van den Heuvel LP, Knoers NV: Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit. Nat Genet. 2000 Nov;26(3):265-6. [PubMed
]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed
]
|
| Enzyme 129 Metabolite References |
Not Available |
|
Enzyme 130
[top]
|
| Enzyme 130 ID |
13470 |
| Enzyme 130 Name |
Potassium channel subfamily T member 1 |
| Enzyme 130 Synonyms |
- KCa4.1
|
| Enzyme 130 Gene Name |
KCNT1 |
| Enzyme 130 Protein Sequence |
>Potassium channel subfamily T member 1
MARAKLPRSPSEGKAGPGGAPAGAAAPEEPHGLSPLLPARGGGSVGSDVGQRLPVEDFSL
DSSLSQVQVEFYVNENTFKERLKLFFIKNQRSSLRIRLFNFSLKLLTCLLYIVRVLLDDP
ALGIGCWGCPKQNYSFNDSSSEINWAPILWVERKMTLWAIQVIVAIISFLETMLLIYLSY
KGNIWEQIFRVSFVLEMINTLPFIITIFWPPLRNLFIPVFLNCWLAKHALENMINDFHRA
ILRTQSAMFNQVLILFCTLLCLVFTGTCGIQHLERAGENLSLLTSFYFCIVTFSTVGYGD
VTPKIWPSQLLVVIMICVALVVLPLQFEELVYLWMERQKSGGNYSRHRAQTEKHVVLCVS
SLKIDLLMDFLNEFYAHPRLQDYYVVILCPTEMDVQVRRVLQIPLWSQRVIYLQGSALKD
QDLMRAKMDNGEACFILSSRNEVDRTAADHQTILRAWAVKDFAPNCPLYVQILKPENKFH
VKFADHVVCEEECKYAMLALNCICPATSTLITLLVHTSRGQEGQESPEQWQRMYGRCSGN
EVYHIRMGDSKFFREYEGKSFTYAAFHAHKKYGVCLIGLKREDNKSILLNPGPRHILAAS
DTCFYINITKEENSAFIFKQEEKRKKRAFSGQGLHEGPARLPVHSIIASMGTVAMDLQGT
EHRPTQSGGGGGGSKLALPTENGSGSRRPSIAPVLELADSSALLPCDLLSDQSEDEVTPS
DDEGLSVVEYVKGYPPNSPYIGSSPTLCHLLPVKAPFCCLRLDKGCKHNSYEDAKAYGFK
NKLIIVSAETAGNGLYNFIVPLRAYYRSRKELNPIVLLLDNKPDHHFLEAICCFPMVYYM
EGSVDNLDSLLQCGIIYADNLVVVDKESTMSAEEDYMADAKTIVNVQTMFRLFPSLSITT
ELTHPSNMRFMQFRAKDSYSLALSKLEKRERENGSNLAFMFRLPFAAGRVFSISMLDTLL
YQSFVKDYMITITRLLLGLDTTPGSGYLCAMKITEGDLWIRTYGRLFQKLCSSSAEIPIG
IYRTESHVFSTSESQISVNVEDCEDTREVKGPWGSRAGTGGSSQGRHTGGGDPAEHPLLR
RKSLQWARRLSRKAPKQAGRAAAAEWISQQRLSLYRRSERQELSELVKNRMKHLGLPTTG
YEDVANLTASDVMNRVNLGYLQDEMNDHQNTLSYVLINPPPDTRLEPSDIVYLIRSDPLA
HVASSSQSRKSSCSHKLSSCNPETRDETQL
|
| Enzyme 130 Number of Residues |
1230 |
| Enzyme 130 Molecular Weight |
138341.7 |
| Enzyme 130 Theoretical pI |
7.54 |
| Enzyme 130 GO Classification |
| Function |
- calcium activated cation channel activity
- calcium-activated potassium channel activity
- cation channel activity
- ion channel activity
- ion transmembrane transporter activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- cation transport
- establishment of localization
- ion transport
- monovalent inorganic cation transport
- potassium ion transport
- transport
|
| Component |
|
|
| Enzyme 130 General Function |
Involved in calcium-activated potassium channel activity |
| Enzyme 130 Specific Function |
Outwardly rectifying potassium channel subunit that may co-assemble with other Slo-type channel subunits. Activated by high intracellular sodium or chloride levels. Activated upon stimulation of G-protein coupled receptors, such as CHRM1 and GRIA1. May be regulated by calcium in the absence of sodium ions (in vitro) |
| Enzyme 130 Pathways |
Not Available |
| Enzyme 130 Reactions |
Not Available |
| Enzyme 130 Pfam Domain Function |
|
| Enzyme 130 Signals |
|
| Enzyme 130 Transmembrane Regions |
- 98-118
156-176
188-208
214-226
252-272
305-325
|
| Enzyme 130 Essentiality |
Not Available |
| Enzyme 130 GenBank ID Protein |
240255505  |
| Enzyme 130 UniProtKB/Swiss-Prot ID |
Q5JUK3  |
| Enzyme 130 UniProtKB/Swiss-Prot Entry Name |
KCNT1_HUMAN  |
| Enzyme 130 PDB ID |
Not Available |
| Enzyme 130 Cellular Location |
Not Available |
| Enzyme 130 Gene Sequence |
>3708 bp
ATGCCACTCCCTGACGGGGCGCGGACCCCGGGGGGCGTCTGCCGGGAGGCGCGCGGCGGG
GGCTACACCAACCGGACCTTCGAGTTTGACGACGGCCAATGCGCCCCCAGGCGGCCCTGC
GCGGGGGACGGCGCGCTCCTGGACACCGCCGGCTTCAAGATGAGCGACCTGGACTCCGAG
GTGCTGCCCTTGCCGCCGCGCTACCGCTTCCGGGACCTGCTGCTGGGCGACCCGTCCTTC
CAGAACGACGACAGGGTCCAGGTGGAGTTCTACGTCAACGAGAACACCTTCAAGGAGCGG
CTCAAGCTGTTCTTCATCAAAAACCAAAGATCGAGCCTGAGGATCCGGCTGTTCAACTTC
TCCCTGAAGCTGCTCACCTGCCTGCTCTACATTGTGCGCGTCCTGCTCGATGACCCGGCC
CTGGGCATCGGATGCTGGGGCTGCCCAAAGCAGAACTACTCCTTCAATGACTCGTCCTCC
GAGATCAACTGGGCTCCTATTCTGTGGGTGGAGAGAAAGATGACACTGTGGGCGATCCAG
GTCATCGTGGCCATAATAAGCTTCCTGGAGACGATGCTTCTCATCTACCTCAGCTACAAA
GGCAACATCTGGGAGCAGATCTTCCGCGTGTCCTTCGTCCTGGAGATGATCAACACTCTG
CCCTTCATCATCACGATCTTCTGGCCGCCGCTGCGGAACCTGTTCATCCCCGTCTTTCTG
AACTGCTGGCTGGCCAAGCACGCGCTGGAAAACATGATTAATGACTTCCACCGTGCCATC
CTGCGGACACAGTCAGCCATGTTCAACCAGGTCCTCATCCTCTTCTGCACCCTGCTGTGC
CTCGTTTTCACGGGGACCTGCGGCATCCAGCACCTGGAGCGGGCGGGCGAGAACCTGTCC
CTCCTGACCTCCTTCTACTTCTGCATCGTCACCTTCTCCACCGTGGGCTACGGTGACGTC
ACGCCCAAGATCTGGCCATCGCAGCTGCTGGTGGTCATCATGATCTGCGTGGCCCTCGTG
GTGCTCCCACTGCAGTTCGAGGAGCTCGTCTACCTCTGGATGGAGCGGCAGAAGTCAGGG
GGCAACTACAGCCGCCACCGTGCGCAGACGGAGAAGCACGTGGTCCTGTGTGTCAGCTCC
CTCAAGATCGACCTTCTCATGGACTTCCTGAACGAGTTCTACGCCCACCCCCGGCTCCAG
GACTATTACGTGGTCATCCTGTGCCCCACGGAGATGGATGTCCAGGTGCGCAGAGTCCTG
CAGATCCCTCTGTGGTCCCAGCGGGTCATCTACCTCCAGGGCTCTGCACTCAAAGACCAG
GACCTCATGCGAGCCAAGATGGACAATGGGGAGGCCTGCTTCATCCTCAGCAGCAGGAAC
GAGGTGGACCGCACGGCTGCAGACCACCAGACCATCCTGCGCGCCTGGGCCGTGAAGGAC
TTCGCCCCCAACTGCCCCCTCTACGTCCAGATCCTCAAACCTGAAAACAAGTTTCACGTC
AAGTTTGCTGACCACGTGGTGTGTGAGGAGGAGTGCAAGTACGCCATGCTGGCGCTGAAC
TGCATCTGCCCGGCGACCTCCACCCTCATCACCCTGCTGGTGCACACGTCCCGCGGCCAG
GAGGGACAGGAGTCTCCGGAGCAGTGGCAGCGCATGTATGGGCGCTGCTCCGGCAACGAG
GTGTACCACATCCGCATGGGTGACAGCAAGTTCTTCCGCGAGTACGAGGGCAAGAGCTTC
ACCTACGCGGCCTTCCACGCCCACAAGAAGTATGGCGTGTGCCTCATCGGGCTGAAGCGG
GAGGACAACAAGAGCATCCTGCTGAACCCGGGGCCCCGGCACATCCTGGCCGCCTCTGAC
ACCTGCTTCTACATCAACATCACCAAGGAGGAGAACTCGGCCTTCATCTTCAAGCAGGAG
GAGAAGCGGAAGAAGAGGGCCTTCTCGGGGCAGGGGCTGCACGAGGGTCCGGCCCGCCTG
CCCGTGCACAGCATCATCGCCTCCATGGGGACAGTGGCCATGGACCTGCAGGGCACAGAG
CACCGGCCTACGCAGAGCGGCGGTGGGGGCGGGGGCAGCAAGCTGGCACTGCCCACGGAG
AACGGCTCGGGCAGCCGGCGGCCCAGCATCGCGCCCGTCCTGGAACTGGCCGACAGCTCA
GCCCTGCTGCCCTGCGACCTGCTGAGCGACCAGTCGGAGGATGAGGTGACGCCGTCGGAC
GACGAGGGGCTCTCCGTGGTAGAGTATGTGAAGGGCTACCCTCCCAACTCGCCCTACATC
GGCAGCTCCCCAACCCTGTGCCACCTCCTGCCTGTGAAAGCCCCCTTCTGCTGCCTGCGG
CTGGACAAGGGCTGCAAGCACAACAGCTATGAAGACGCCAAGGCCTACGGGTTCAAGAAC
AAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCA
CTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAAC
AAGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAG
GGCTCT
|