|
Enzyme 1
[top]
|
| Enzyme 1 ID |
5480 |
| Enzyme 1 Name |
4-aminobutyrate aminotransferase, mitochondrial |
| Enzyme 1 Synonyms |
- (S)-3-amino-2-methylpropionate transaminase
- GABA aminotransferase
- GABA-AT
- Gamma-amino-N-butyrate transaminase
- GABA transaminase
- GABA-T
- L-AIBAT
|
| Enzyme 1 Gene Name |
ABAT |
| Enzyme 1 Protein Sequence |
>4-aminobutyrate aminotransferase, mitochondrial
MASMLLAQRLACSFQHSYRLLVPGSRHISQAAAKVDVEFDYDGPLMKTEVPGPRSQELMK
QLNIIQNAEAVHFFCNYEESRGNYLVDVDGNRMLDLYSQISSVPIGYSHPALLKLIQQPQ
NASMFVNRPALGILPPENFVEKLRQSLLSVAPKGMSQLITMACGSCSNENALKTIFMWYR
SKERGQRGFSQEELETCMINQAPGCPDYSILSFMGAFHGRTMGCLATTHSKAIHKIDIPS
FDWPIAPFPRLKYPLEEFVKENQQEEARCLEEVEDLIVKYRKKKKTVAGIIVEPIQSEGG
DNHASDDFFRKLRDIARKHGCAFLVDEVQTGGGCTGKFWAHEHWGLDDPADVMTFSKKMM
TGGFFHKEEFRPNAPYRIFNTWLGDPSKNLLLAEVINIIKREDLLNNAAHAGKALLTGLL
DLQARYPQFISRVRGRGTFCSFDTPDDSIRNKLILIARNKGVVLGGCGDKSIRFRPTLVF
RDHHAHLFLNIFSDILADFK
|
| Enzyme 1 Number of Residues |
500 |
| Enzyme 1 Molecular Weight |
56438.4 |
| Enzyme 1 Theoretical pI |
8.04 |
| Enzyme 1 GO Classification |
| Function |
- 4-aminobutyrate transaminase activity
- binding
- catalytic activity
- cofactor binding
- pyridoxal phosphate binding
- transaminase activity
- transferase activity
- transferase activity, transferring nitrogenous groups
|
| Process |
- cellular amino acid and derivative metabolic process
- cellular amino acid derivative metabolic process
- cellular metabolic process
- gamma-aminobutyric acid metabolic process
- metabolic process
|
| Component |
| — |
|
| Enzyme 1 General Function |
Involved in 4-aminobutyrate transaminase activity |
| Enzyme 1 Specific Function |
Catalyzes the conversion of gamma-aminobutyrate and L- beta-aminoisobutyrate to succinate semialdehyde and methylmalonate semialdehyde, respectively. Can also convert delta-aminovalerate and beta-alanine |
| Enzyme 1 Pathways |
- Valine, Leucine and Isoleucine Degradation (map00280
)
|
| Enzyme 1 Reactions |
- (S)-3-amino-2-methylpropanoate + 2-oxoglutarate = 2-methyl-3-oxopropanoate + L-glutamate
|
| Enzyme 1 Pfam Domain Function |
|
| Enzyme 1 Signals |
|
| Enzyme 1 Transmembrane Regions |
|
| Enzyme 1 Essentiality |
Not Available |
| Enzyme 1 GenBank ID Protein |
158254434  |
| Enzyme 1 UniProtKB/Swiss-Prot ID |
P80404  |
| Enzyme 1 UniProtKB/Swiss-Prot Entry Name |
GABT_HUMAN  |
| Enzyme 1 PDB ID |
1OHY  |
| Enzyme 1 PDB File |
Show |
| Enzyme 1 3D Structure |
|
| Enzyme 1 Cellular Location |
Not Available |
| Enzyme 1 Gene Sequence |
>1503 bp
ATGGCCTCCATGTTGCTCGCCCAGCGCCTGGCCTGCAGCTTCCAGCACAGCTACCGCCTG
CTGGTGCCTGGATCCAGACACATTAGTCAAGCTGCAGCCAAAGTCGACGTTGAATTTGAT
TATGATGGGCCTCTGATGAAGACGGAAGTCCCAGGGCCTAGATCTCAGGAGTTAATGAAA
CAGCTGAATATAATTCAGAATGCAGAGGCTGTGCATTTTTTCTGCAATTACGAAGAGAGC
CGAGGCAATTACCTGGTTGATGTGGACGGCAACCGAATGCTGGATCTTTATTCCCAGATC
TCCTCTGTTCCCATAGGTTACAGCCACCCCGCCCTGCTGAAACTCATCCAACAGCCTCAA
AATGCGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTG
GAGAAGCTCCGGCAGTCCTTGCTCTCGGTGGCTCCCAAAGGGATGTCCCAGCTCATCACC
ATGGCCTGCGGCTCCTGCTCCAATGAAAACGCCTTAAAGACCATCTTCATGTGGTACCGG
AGCAAGGAAAGAGGGCAGAGGGGCTTCTCCCAGGAGGAGCTGGAGACGTGCATGATTAAC
CAGGCCCCTGGCTGCCCCGACTACAGCATCCTCTCCTTCATGGGCGCGTTCCATGGGAGG
ACCATGGGTTGCTTAGCGACCACGCACTCTAAAGCCATTCACAAGATCGACATCCCTTCC
TTTGACTGGCCCATCGCACCGTTCCCACGGCTGAAATACCCTCTGGAAGAGTTTGTGAAA
GAGAACCAACAGGAGGAGGCCCGCTGTCTGGAAGAGGTGGAGGATCTGATTGTGAAATAT
CGGAAAAAGAAGAAGACGGTGGCCGGGATCATCGTGGAGCCCATCCAGTCCGAGGGTGGA
GACAACCACGCATCCGATGACTTCTTTCGGAAGCTGAGAGACATCGCCAGGAAGCATGGC
TGCGCCTTCTTGGTGGACGAGGTACAGACCGGAGGAGGCTGCACGGGCAAGTTCTGGGCC
CATGAGCACTGGGGCCTGGATGACCCAGCAGACGTGATGACCTTCAGCAAGAAGATGATG
ACTGGGGGCTTCTTCCACAAGGAGGAGTTCAGGCCTAATGCTCCCTACCGGATCTTCAAC
ACCTGGCTGGGGGACCCGTCCAAGAACCTGTTGCTGGCTGAGGTCATCAACATCATCAAG
CGGGAGGACCTGCTAAATAATGCAGCCCATGCCGGGAAGGCCCTGCTCACAGGACTGCTG
GACCTCCAGGCCCGGTACCCCCAGTTCATCAGCAGGGTGAGAGGACGAGGCACCTTTTGC
TCCTTCGATACTCCCGATGATTCCATACGGAATAAGCTCATTTTAATTGCCAGAAACAAA
GGTGTGGTGTTGGGTGGCTGTGGTGACAAATCCATTCGTTTCCGTCCCACGCTGGTCTTC
AGGGATCACCACGCTCACCTGTTCCTCAATATTTTCAGTGACATCTTAGCAGACTTCAAG
TAA
|
| Enzyme 1 GenBank Gene ID |
AK290501  |
| Enzyme 1 GeneCard ID |
ABAT  |
| Enzyme 1 GenAtlas ID |
ABAT  |
| Enzyme 1 HGNC ID |
HGNC:23  |
| Enzyme 1 Chromosome Location |
1 |
| Enzyme 1 Locus |
16p13.2 |
| Enzyme 1 SNPs |
SNPJam Report  |
| Enzyme 1 General References |
- Osei YD, Churchich JE: Screening and sequence determination of a cDNA encoding the human brain 4-aminobutyrate aminotransferase. Gene. 1995 Apr 3;155(2):185-7. [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
]
- De Biase D, Barra D, Simmaco M, John RA, Bossa F: Primary structure and tissue distribution of human 4-aminobutyrate aminotransferase. Eur J Biochem. 1995 Jan 15;227(1-2):476-80. [PubMed
]
- Medina-Kauwe LK, Tobin AJ, De Meirleir L, Jaeken J, Jakobs C, Nyhan WL, Gibson KM: 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency. J Inherit Metab Dis. 1999 Jun;22(4):414-27. [PubMed
]
|
| Enzyme 1 Metabolite References |
Not Available |
|
Enzyme 2
[top]
|
| Enzyme 2 ID |
5526 |
| Enzyme 2 Name |
4-trimethylaminobutyraldehyde dehydrogenase |
| Enzyme 2 Synonyms |
- TMABADH
- Aldehyde dehydrogenase E3 isozyme
- Aldehyde dehydrogenase family 9 member A1
- Gamma-aminobutyraldehyde dehydrogenase
- R-aminobutyraldehyde dehydrogenase
|
| Enzyme 2 Gene Name |
ALDH9A1 |
| Enzyme 2 Protein Sequence |
>4-trimethylaminobutyraldehyde dehydrogenase
MSTGTFVVSQPLNYRGGARVEPADASGTEKAFEPATGRVIATFTCSGEKEVNLAVQNAKA
AFKIWSQKSGMERCRILLEAARIIREREDEIATMECINNGKSIFEARLDIDISWQCLEYY
AGLAASMAGEHIQLPGGSFGYTRREPLGVCVGIGAWNYPFQIASWKSAPALACGNAMVFK
PSPFTPVSALLLAEIYSEAGVPPGLFNVVQGGAATGQFLCQHPDVAKVSFTGSVPTGMKI
MEMSAKGIKPVTLELGGKSPLIIFSDCDMNNAVKGALMANFLTQGQVCCNGTRVFVQKEI
LDKFTEEVVKQTQRIKIGDPLLEDTRMGPLINRPHLERVLGFVKVAKEQGAKVLCGGDIY
VPEDPKLKDGYYMRPCVLTNCRDDMTCVKEEIFGPVMSILSFDTEAEVLERANDTTFGLA
AGVFTRDIQRAHRVVAELQAGTCFINNYNVSPVELPFGGYKKSGFGRENGRVTIEYYSQL
KTVCVEMGDVESAF
|
| Enzyme 2 Number of Residues |
494 |
| Enzyme 2 Molecular Weight |
53801.5 |
| Enzyme 2 Theoretical pI |
5.61 |
| Enzyme 2 GO Classification |
| Function |
- catalytic activity
- oxidoreductase activity
|
| Process |
- metabolic process
- oxidation reduction
|
| Component |
| — |
|
| Enzyme 2 General Function |
Involved in oxidoreductase activity |
| Enzyme 2 Specific Function |
Converts gamma-trimethylaminobutyraldehyde into gamma- butyrobetaine. Catalyzes the irreversible oxidation of a broad range of aldehydes to the corresponding acids in an NAD-dependent reaction |
| Enzyme 2 Pathways |
|
| Enzyme 2 Reactions |
- 4-trimethylammoniobutanal + NAD+ + H2O = 4-trimethylammoniobutanoate + NADH + 2 H+ [RN:R03283]
|
| Enzyme 2 Pfam Domain Function |
|
| Enzyme 2 Signals |
|
| Enzyme 2 Transmembrane Regions |
|
| Enzyme 2 Essentiality |
Not Available |
| Enzyme 2 GenBank ID Protein |
7248636  |
| Enzyme 2 UniProtKB/Swiss-Prot ID |
P49189  |
| Enzyme 2 UniProtKB/Swiss-Prot Entry Name |
AL9A1_HUMAN  |
| Enzyme 2 PDB ID |
Not Available |
| Enzyme 2 Cellular Location |
Not Available |
| Enzyme 2 Gene Sequence |
>1485 bp
ATGAGCACTGGCACCTTCGTCGTGTCGCAGCCGCTCAATTACCGCGGCGGGGCCCGCGTG
GAGCCGGCGGACGCCTCCGGTACCGAGAAAGCTTTCGAGCCAGCAACCGGCCGAGTGATA
GCTACTTTCACATGTTCAGGAGAAAAGGAAGTAAATTTGGCTGTTCAAAATGCAAAGGCT
GCTTTTAAAATATGGAGTCAAAAATCTGGCATGGAGCGTTGCCGAATCCTTTTGGAGGCT
GCCAGGATAATAAGGGAACGGGAGGATGAAATTGCTACTATGGAGTGCATCAACAATGGC
AAGTCCATCTTTGAGGCCCGCTTGGACATTGACATTTCCTGGCAGTGCCTGGAGTATTAT
GCGGGCTTGGCTGCATCCATGGCTGGTGAACACATCCAGCTCCCAGGTGGATCGTTTGGT
TATACCAGAAGAGAACCACTTGGGGTATGTGTGGGAATAGGAGCATGGAACTACCCCTTT
CAGATTGCCTCTTGGAAGTCGGCTCCAGCATTAGCCTGTGGTAATGCCATGGTCTTTAAA
CCTTCTCCCTTTACACCTGTTTCTGCATTGCTACTGGCTGAAATCTACAGTGAGGCTGGT
GTACCTCCTGGGCTCTTCAATGTGGTGCAGGGAGGGGCTGCCACAGGCCAGTTTCTGTGT
CAGCATCCCGATGTGGCCAAAGTCTCCTTCACTGGAAGTGTGCCCACTGGCATGAAGATC
ATGGAGATGTCAGCTAAAGGAATCAAACCTGTTACCTTGGAACTTGGAGGCAAATCTCCA
CTCATCATCTTCTCAGACTGTGATATGAACAATGCTGTAAAGGGGGCGCTGATGGCCAAC
TTCCTCACACAAGGCCAGGTTTGCTGTAATGGCACAAGAGTATTTGTGCAGAAAGAAATT
CTTGATAAATTTACAGAGGAAGTGGTGAAACAGACCCAAAGGATTAAAATTGGAGATCCC
CTTCTGGAAGATACAAGGATGGGTCCACTCATCAACCGACCACACCTGGAGCGAGTCCTT
GGGTTTGTCAAAGTGGCAAAGGAGCAGGGTGCTAAAGTGTTATGTGGTGGAGATATATAT
GTACCTGAAGATCCCAAATTAAAGGATGGATATTACATGAGACCTTGTGTATTAACTAAT
TGCAGAGACGACATGACCTGTGTGAAGGAAGAGATCTTTGGGCCTGTTATGTCCATTTTA
TCATTTGACACTGAAGCTGAGGTTCTAGAAAGAGCCAATGATACCACTTTTGGACTAGCA
GCTGGCGTCTTTACCAGGGACATCCAACGGGCTCATAGAGTGGTAGCTGAGCTTCAGGCT
GGGACGTGCTTCATTAACAACTATAACGTCAGCCCAGTGGAGTTGCCCTTTGGTGGATAT
AAGAAGTCAGGATTTGGCAGAGAGAACGGCCGTGTGACAATCGAATATTATTCACAGCTG
AAGACTGTGTGTGTGGAGATGGGTGATGTGGAATCTGCTTTTTGA
|
| Enzyme 2 GenBank Gene ID |
AF172093  |
| Enzyme 2 GeneCard ID |
ALDH9A1  |
| Enzyme 2 GenAtlas ID |
ALDH9A1  |
| Enzyme 2 HGNC ID |
HGNC:412  |
| Enzyme 2 Chromosome Location |
1 |
| Enzyme 2 Locus |
1q23.1 |
| Enzyme 2 SNPs |
SNPJam Report  |
| Enzyme 2 General References |
- Lin SW, Chen JC, Hsu LC, Hsieh CL, Yoshida A: Human gamma-aminobutyraldehyde dehydrogenase (ALDH9): cDNA sequence, genomic organization, polymorphism, chromosomal localization, and tissue expression. Genomics. 1996 Jun 15;34(3):376-80. [PubMed
]
- Vaz FM, Fouchier SW, Ofman R, Sommer M, Wanders RJ: Molecular and biochemical characterization of rat gamma-trimethylaminobutyraldehyde dehydrogenase and evidence for the involvement of human aldehyde dehydrogenase 9 in carnitine biosynthesis. J Biol Chem. 2000 Mar 10;275(10):7390-4. [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
]
- 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
]
- Kikonyogo A, Pietruszko R: Aldehyde dehydrogenase from adult human brain that dehydrogenates gamma-aminobutyraldehyde: purification, characterization, cloning and distribution. Biochem J. 1996 May 15;316 ( Pt 1):317-24. [PubMed
]
- Kurys G, Shah PC, Kikonygo A, Reed D, Ambroziak W, Pietruszko R: Human aldehyde dehydrogenase. cDNA cloning and primary structure of the enzyme that catalyzes dehydrogenation of 4-aminobutyraldehyde. Eur J Biochem. 1993 Dec 1;218(2):311-20. [PubMed
]
- Kurys G, Ambroziak W, Pietruszko R: Human aldehyde dehydrogenase. Purification and characterization of a third isozyme with low Km for gamma-aminobutyraldehyde. J Biol Chem. 1989 Mar 15;264(8):4715-21. [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 2 Metabolite References |
Not Available |
|
Enzyme 3
[top]
|
| Enzyme 3 ID |
5528 |
| Enzyme 3 Name |
Alpha-aminoadipic semialdehyde dehydrogenase |
| Enzyme 3 Synonyms |
- Alpha-AASA dehydrogenase
- Aldehyde dehydrogenase family 7 member A1
- Antiquitin-1
- Betaine aldehyde dehydrogenase
- Delta1-piperideine-6-carboxylate dehydrogenase
- P6c dehydrogenase
|
| Enzyme 3 Gene Name |
ALDH7A1 |
| Enzyme 3 Protein Sequence |
>Alpha-aminoadipic semialdehyde dehydrogenase
MWRLPRALCVHAAKTSKLSGPWSRPAAFMSTLLINQPQYAWLKELGLREENEGVYNGSWG
GRGEVITTYCPANNEPIARVRQASVADYEETVKKAREAWKIWADIPAPKRGEIVRQIGDA
LREKIQVLGSLVSLEMGKILVEGVGEVQEYVDICDYAVGLSRMIGGPILPSERSGHALIE
QWNPVGLVGIITAFNFPVAVYGWNNAIAMICGNVCLWKGAPTTSLISVAVTKIIAKVLED
NKLPGAICSLTCGGADIGTAMAKDERVNLLSFTGSTQVGKQVGLMVQERFGRSLLELGGN
NAIIAFEDADLSLVVPSALFAAVGTAGQRCTTARRLFIHESIHDEVVNRLKKAYAQIRVG
NPWDPNVLYGPLHTKQAVSMFLGAVEEAKKEGGTVVYGGKVMDRPGNYVEPTIVTGLGHD
ASIAHTETFAPILYVFKFKNEEEVFAWNNEVKQGLSSSIFTKDLGRIFRWLGPKGSDCGI
VNVNIPTSGAEIGGAFGGEKHTGGGRESGSDAWKQYMRRSTCTINYSKDLPLAQGIKFQ
|
| Enzyme 3 Number of Residues |
539 |
| Enzyme 3 Molecular Weight |
58486.7 |
| Enzyme 3 Theoretical pI |
8.09 |
| Enzyme 3 GO Classification |
| Function |
- catalytic activity
- oxidoreductase activity
|
| Process |
- metabolic process
- oxidation reduction
|
| Component |
| — |
|
| Enzyme 3 General Function |
Involved in oxidoreductase activity |
| Enzyme 3 Specific Function |
Multifunctional enzyme mediating important protective effects. Metabolizes betaine aldehyde to betaine, an important cellular osmolyte and methyl donor. Protects cells from oxidative stress by metabolizing a number of lipid peroxidation-derived aldehydes. Involved in lysine catabolism |
| Enzyme 3 Pathways |
|
| Enzyme 3 Reactions |
- L-2-aminoadipate 6-semialdehyde + NAD(P)+ + H2O = L-2-aminoadipate + NAD(P)H + H+ [RN:R03102 R03103]
|
| Enzyme 3 Pfam Domain Function |
|
| Enzyme 3 Signals |
|
| Enzyme 3 Transmembrane Regions |
|
| Enzyme 3 Essentiality |
Not Available |
| Enzyme 3 GenBank ID Protein |
188035924  |
| Enzyme 3 UniProtKB/Swiss-Prot ID |
P49419  |
| Enzyme 3 UniProtKB/Swiss-Prot Entry Name |
AL7A1_HUMAN  |
| Enzyme 3 PDB ID |
Not Available |
| Enzyme 3 Cellular Location |
Not Available |
| Enzyme 3 Gene Sequence |
>1620 bp
ATGTGGCGCCTTCCTCGCGCGCTGTGTGTGCACGCTGCAAAGACCAGCAAGCTCTCTGGA
CCTTGGAGCAGGCCTGCCGCCTTCATGTCCACTCTCCTCATCAATCAGCCCCAGTATGCG
TGGCTGAAAGAGCTGGGGCTCCGCGAGGAAAACGAGGGCGTGTATAATGGAAGCTGGGGA
GGCCGGGGAGAGGTTATTACGACCTATTGCCCTGCTAACAACGAGCCAATAGCAAGAGTC
CGACAGGCCAGTGTGGCAGACTATGAAGAAACTGTAAAGAAAGCAAGAGAAGCATGGAAA
ATCTGGGCAGATATTCCTGCTCCAAAACGAGGAGAAATAGTAAGACAGATTGGCGATGCC
TTGCGGGAGAAGATCCAAGTACTAGGAAGCTTGGTGTCTTTGGAGATGGGGAAAATCTTA
GTGGAAGGTGTGGGTGAAGTTCAGGAGTATGTGGATATCTGTGACTATGCTGTTGGTTTA
TCAAGGATGATTGGAGGACCTATCTTGCCTTCTGAAAGATCTGGCCATGCACTGATTGAG
CAGTGGAATCCCGTAGGCCTGGTTGGAATCATCACGGCATTCAATTTCCCTGTGGCAGTG
TATGGTTGGAACAACGCCATCGCCATGATCTGTGGAAATGTCTGCCTCTGGAAAGGAGCT
CCAACCACTTCCCTCATTAGTGTGGCTGTCACAAAGATAATAGCCAAGGTTCTGGAGGAC
AACAAGCTGCCTGGTGCAATTTGTTCCTTGACTTGTGGTGGAGCAGATATTGGCACAGCA
ATGGCCAAAGATGAACGAGTGAACCTGCTGTCCTTCACTGGGAGCACTCAGGTGGGAAAA
CAGGTGGGCCTGATGGTGCAGGAGAGGTTTGGGAGAAGTCTGTTGGAACTTGGAGGAAAC
AATGCCATTATTGCCTTTGAAGATGCAGACCTCAGCTTAGTTGTTCCATCAGCTCTCTTC
GCTGCTGTGGGAACAGCTGGCCAGAGGTGTACCACTGCGAGGCGACTGTTTATACATGAA
AGCATCCATGATGAGGTTGTAAACAGACTTAAAAAGGCCTATGCACAGATCCGAGTTGGG
AACCCATGGGACCCTAATGTTCTCTATGGGCCACTCCACACCAAGCAGGCAGTGAGCATG
TTTCTTGGAGCAGTGGAAGAAGCAAAGAAAGAAGGTGGCACAGTGGTCTATGGGGGCAAG
GTTATGGATCGCCCTGGAAATTATGTAGAACCGACAATTGTGACAGGTCTTGGCCACGAT
GCGTCCATTGCACACACAGAGACTTTTGCTCCGATTCTCTATGTCTTTAAATTCAAGAAT
GAAGAAGAGGTCTTTGCATGGAATAATGAAGTAAAACAGGGACTTTCAAGTAGCATCTTT
ACCAAAGATCTGGGCAGAATCTTTCGCTGGCTTGGACCTAAAGGATCAGACTGTGGCATT
GTAAATGTCAACATTCCAACAAGTGGGGCTGAGATTGGAGGTGCCTTTGGAGGAGAAAAG
CACACTGGTGGTGGCAGGGAGTCTGGCAGTGATGCCTGGAAACAGTACATGAGAAGGTCT
ACTTGTACTATCAACTACAGTAAAGACCTTCCTCTGGCCCAAGGAATCAAGTTTCAGTAA
|
| Enzyme 3 GenBank Gene ID |
NM_001182.3  |
| Enzyme 3 GeneCard ID |
ALDH7A1  |
| Enzyme 3 GenAtlas ID |
ALDH7A1  |
| Enzyme 3 HGNC ID |
HGNC:877  |
| Enzyme 3 Chromosome Location |
5 |
| Enzyme 3 Locus |
5q31 |
| Enzyme 3 SNPs |
SNPJam Report  |
| Enzyme 3 General References |
- Lee P, Kuhl W, Gelbart T, Kamimura T, West C, Beutler E: Homology between a human protein and a protein of the green garden pea. Genomics. 1994 May 15;21(2):371-8. [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
]
- 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
]
- Skvorak AB, Robertson NG, Yin Y, Weremowicz S, Her H, Bieber FR, Beisel KW, Lynch ED, Beier DR, Morton CC: An ancient conserved gene expressed in the human inner ear: identification, expression analysis, and chromosomal mapping of human and mouse antiquitin (ATQ1). Genomics. 1997 Dec 1;46(2):191-9. [PubMed
]
- Brocker C, Lassen N, Estey T, Pappa A, Cantore M, Orlova VV, Chavakis T, Kavanagh KL, Oppermann U, Vasiliou V: Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress. J Biol Chem. 2010 Jun 11;285(24):18452-63. Epub 2010 Mar 5. [PubMed
]
- Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, Willemsen MA, Omran H, Tacke U, Uhlenberg B, Weschke B, Clayton PT: Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med. 2006 Mar;12(3):307-9. Epub 2006 Feb 19. [PubMed
]
|
| Enzyme 3 Metabolite References |
Not Available |
|
Enzyme 4
[top]
|
| Enzyme 4 ID |
5529 |
| Enzyme 4 Name |
Aldehyde dehydrogenase family 1 member A3 |
| Enzyme 4 Synonyms |
- Aldehyde dehydrogenase 6
- Retinaldehyde dehydrogenase 3
- RALDH-3
- RalDH3
|
| Enzyme 4 Gene Name |
ALDH1A3 |
| Enzyme 4 Protein Sequence |
>Aldehyde dehydrogenase family 1 member A3
MATANGAVENGQPDRKPPALPRPIRNLEVKFTKIFINNEWHESKSGKKFATCNPSTREQI
CEVEEGDKPDVDKAVEAAQVAFQRGSPWRRLDALSRGRLLHQLADLVERDRATLAALETM
DTGKPFLHAFFIDLEGCIRTLRYFAGWADKIQGKTIPTDDNVVCFTRHEPIGVCGAITPW
NFPLLMLVWKLAPALCCGNTMVLKPAEQTPLTALYLGSLIKEAGFPPGVVNIVPGFGPTV
GAAISSHPQINKIAFTGSTEVGKLVKEAASRSNLKRVTLELGGKNPCIVCADADLDLAVE
CAHQGVFFNQGQCCTAASRVFVEEQVYSEFVRRSVEYAKKRPVGDPFDVKTEQGPQIDQK
QFDKILELIESGKKEGAKLECGGSAMEDKGLFIKPTVFSEVTDNMRIAKEEIFGPVQPIL
KFKSIEEVIKRANSTDYGLTAAVFTKNLDKALKLASALESGTVWINCYNALYAQAPFGGF
KMSGNGRELGEYALAEYTEVKTVTIKLGDKNP
|
| Enzyme 4 Number of Residues |
512 |
| Enzyme 4 Molecular Weight |
56108.0 |
| Enzyme 4 Theoretical pI |
7.29 |
| Enzyme 4 GO Classification |
| Function |
- catalytic activity
- oxidoreductase activity
|
| Process |
- metabolic process
- oxidation reduction
|
| Component |
| — |
|
| Enzyme 4 General Function |
Involved in oxidoreductase activity |
| Enzyme 4 Specific Function |
Recognizes as substrates free retinal and cellular retinol-binding protein-bound retinal. Seems to be the key enzyme in the formation of an RA gradient along the dorso-ventral axis during the early eye development and also in the development of the olfactory system |
| Enzyme 4 Pathways |
|
| Enzyme 4 Reactions |
- an aldehyde + NAD(P)+ + H2O = an acid + NAD(P)H + H+ [RN:R00538 R00634]
|
| Enzyme 4 Pfam Domain Function |
|
| Enzyme 4 Signals |
|
| Enzyme 4 Transmembrane Regions |
|
| Enzyme 4 Essentiality |
Not Available |
| Enzyme 4 GenBank ID Protein |
46621670  |
| Enzyme 4 UniProtKB/Swiss-Prot ID |
P47895  |
| Enzyme 4 UniProtKB/Swiss-Prot Entry Name |
AL1A3_HUMAN  |
| Enzyme 4 PDB ID |
Not Available |
| Enzyme 4 Cellular Location |
Not Available |
| Enzyme 4 Gene Sequence |
>1539 bp
ATGGCCACCGCTAACGGGGCCGTGGAAAACGGGCAGCCGGACAGGAAGCCGCCGGCCCTG
CCGCGCCCCATCCGCAACCTGGAGGTCAAGTTCACCAAGATATTTATCAACAATGAATGG
CACGAATCCAAGAGTGGGAAAAAGTTTGCTACATGTAACCCTTCAACTCGGGAGCAAATA
TGTGAAGTGGAAGAAGGAGATAAGCCCGACGTGGACAAGGCTGTGGAGGCTGCACAGGTT
GCCTTCCAGAGGGGCTCGCCATGGCGCCGGCTGGATGCCCTGAGTCGTGGGCGGCTGCTG
CACCAGCTGGCTGACCTGGTGGAGAGGGACCGCGCCACCTTGGCCGCCCTGGAGACGATG
GATACAGGGAAGCCATTTCTTCATGCTTTTTTCATCGACCTGGAGGGCTGTATTAGAACC
CTCAGATACTTTGCAGGGTGGGCAGACAAAATCCAGGGCAAGACCATCCCCACAGATGAC
AACGTCGTGTGCTTCACCAGGCATGAGCCCATTGGTGTCTGTGGGGCCATCACTCCATGG
AACTTCCCCCTGCTGATGCTGGTGTGGAAGCTGGCACCCGCCCTCTGCTGTGGGAACACC
ATGGTCCTGAAGCCTGCGGAGCAGACACCTCTCACCGCCCTTTATCTCGGCTCTCTGATC
AAAGAGGCCGGGTTCCCTCCAGGAGTGGTGAACATTGTGCCAGGATTCGGGCCCACAGTG
GGAGCAGCAATTTCTTCTCACCCTCAGATCAACAAGATCGCCTTCACCGGCTCCACAGAG
GTTGGAAAACTGGTTAAAGAAGCTGCGTCCCGGAGCAATCTGAAGCGGGTGACGCTGGAG
CTGGGGGGGAAGAACCCCTGCATCGTGTGTGCGGACGCTGACTTGGACTTGGCAGTGGAG
TGTGCCCATCAGGGAGTGTTCTTCAACCAAGGCCAGTGTTGCACGGCAGCCTCCAGGGTG
TTCGTGGAGGAGCAGGTCTACTCTGAGTTTGTCAGGCGGAGCGTGGAGTATGCCAAGAAA
CGGCCCGTGGGAGACCCCTTCGATGTCAAAACAGAACAGGGGCCTCAGATTGATCAAAAG
CAGTTCGACAAAATCTTAGAGCTGATCGAGAGTGGGAAGAAGGAAGGGGCCAAGCTGGAA
TGCGGGGGCTCAGCCATGGAAGACAAGGGGCTCTTCATCAAACCCACTGTCTTCTCAGAA
GTCACAGACAACATGCGGATTGCCAAAGAGGAGATTTTCGGGCCAGTGCAACCAATACTG
AAGTTCAAAAGTATCGAAGAAGTGATAAAAAGAGCGAATAGCACCGACTATGGACTCACA
GCAGCCGTGTTCACAAAAAATCTCGACAAAGCCCTGAAGTTGGCTTCTGCCTTAGAGTCT
GGAACGGTCTGGATCAACTGCTACAACGCCCTCTATGCACAGGCTCCATTTGGTGGCTTT
AAAATGTCAGGAAATGGCAGAGAACTAGGTGAATACGCTTTGGCCGAATACACAGAAGTG
AAAACTGTCACCATCAAACTTGGCGACAAGAACCCCTGA
|
| Enzyme 4 GenBank Gene ID |
BC069274  |
| Enzyme 4 GeneCard ID |
ALDH1A3  |
| Enzyme 4 GenAtlas ID |
ALDH1A3  |
| Enzyme 4 HGNC ID |
HGNC:409  |
| Enzyme 4 Chromosome Location |
1 |
| Enzyme 4 Locus |
15q26.3 |
| Enzyme 4 SNPs |
SNPJam Report  |
| Enzyme 4 General References |
- Hsu LC, Chang WC, Hiraoka L, Hsieh CL: Molecular cloning, genomic organization, and chromosomal localization of an additional human aldehyde dehydrogenase gene, ALDH6. Genomics. 1994 Nov 15;24(2):333-41. [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 4 Metabolite References |
Not Available |
|
Enzyme 5
[top]
|
| Enzyme 5 ID |
5530 |
| Enzyme 5 Name |
Aldehyde dehydrogenase, mitochondrial |
| Enzyme 5 Synonyms |
- ALDH class 2
- ALDH-E2
- ALDHI
|
| Enzyme 5 Gene Name |
ALDH2 |
| Enzyme 5 Protein Sequence |
>Aldehyde dehydrogenase, mitochondrial
MLRAAARFGPRLGRRLLSAAATQAVPAPNQQPEVFCNQIFINNEWHDAVSRKTFPTVNPS
TGEVICQVAEGDKEDVDKAVKAARAAFQLGSPWRRMDASHRGRLLNRLADLIERDRTYLA
ALETLDNGKPYVISYLVDLDMVLKCLRYYAGWADKYHGKTIPIDGDFFSYTRHEPVGVCG
QIIPWNFPLLMQAWKLGPALATGNVVVMKVAEQTPLTALYVANLIKEAGFPPGVVNIVPG
FGPTAGAAIASHEDVDKVAFTGSTEIGRVIQVAAGSSNLKRVTLELGGKSPNIIMSDADM
DWAVEQAHFALFFNQGQCCCAGSRTFVQEDIYDEFVERSVARAKSRVVGNPFDSKTEQGP
QVDETQFKKILGYINTGKQEGAKLLCGGGIAADRGYFIQPTVFGDVQDGMTIAKEEIFGP
VMQILKFKTIEEVVGRANNSTYGLAAAVFTKDLDKANYLSQALQAGTVWVNCYDVFGAQS
PFGGYKMSGSGRELGEYGLQAYTEVKTVTVKVPQKNS
|
| Enzyme 5 Number of Residues |
517 |
| Enzyme 5 Molecular Weight |
56380.9 |
| Enzyme 5 Theoretical pI |
7.05 |
| Enzyme 5 GO Classification |
| Function |
- catalytic activity
- oxidoreductase activity
|
| Process |
- metabolic process
- oxidation reduction
|
| Component |
| — |
|
| Enzyme 5 General Function |
Involved in oxidoreductase activity |
| Enzyme 5 Specific Function |
An aldehyde + NAD(+) + H(2)O = an acid + NADH |
| Enzyme 5 Pathways |
|
| Enzyme 5 Reactions |
- an aldehyde + NAD+ + H2O = an acid + NADH + H+ [RN:R00538]
|
| Enzyme 5 Pfam Domain Function |
|
| Enzyme 5 Signals |
|
| Enzyme 5 Transmembrane Regions |
|
| Enzyme 5 Essentiality |
Not Available |
| Enzyme 5 GenBank ID Protein |
28606  |
| Enzyme 5 UniProtKB/Swiss-Prot ID |
P05091  |
| Enzyme 5 UniProtKB/Swiss-Prot Entry Name |
ALDH2_HUMAN  |
| Enzyme 5 PDB ID |
1OF7  |
| Enzyme 5 PDB File |
Show |
| Enzyme 5 3D Structure |
|
| Enzyme 5 Cellular Location |
Not Available |
| Enzyme 5 Gene Sequence |
>1551 bp
ATGTTGCGCGCTGCCGCCGCTCGGGCCCCGCCTGGCCGCCGCCTCTTGTCAGCCGCCGCC
ACCCAGGCCGTGCCTGCCCCCAACCAGCAGCCCGAGGTCTTCTGCAACCAGATTTTCATA
AACAATGAATGGCACGATGCCGTCAGCAGGAAAACATTCCCCACCGTCAATCCGTCCACT
GGAGAGGTCATCTGTCAGGTAGCTGAAGGGGACAAGGAAGATGTGGACAAGGCACGTGAA
GGCCGCCCGGGCGCCTTCCAGCTGGGCTCACCTTGGCGCCGCATGGACGCATCACACAGC
GGCCGGCTGCTGAACCGCCTGGCCGATCTGATCGAGCGGGACCGGACCTACCTGGCGGCC
TTGGAGACCCTGGACAATGGCAAGCCCTATGTCATCTCCTACCTGGTGGATTTGGACATG
GTCCTCAAATGTCTCCGGTATTATGCCGGCTGGGCTGATAAGTACCACGGGAAAACCATC
CCCATTGACGGAGACTTCTTCAGCTACACACGCCATGAACCTGTGGGGGTGTGCGGGCAG
ATCATTCCGTGGAATTTCCCGCTCCTGATGCAAGCATGGAAGCTGGGCCCAGCCTTGGCA
ACTGGAAACGTGGTTGTGATGAAGGTAGCTGAGCAGACACCCCTCACCGCCCTCTATGTG
GCCAACCTGATCAAGGAGGCTGGCTTTCCCCCTGGTGTGGTCAACATTGTGCCTGGATTT
GGCCCCACGGCTGGGGCCGCCATTGCCTCCCATGAGGATGTGGACAAAGTGGCATTCACA
GGCTCCACTGAGATTGGCCGCGTAATCCAGGTTGCTGCTGGGAGCAGCAACCTCAAGAGA
GTGACCTTGGAGCTGGGGGGGAAGAGCCCCAACATCATCATGTCAGATGCCGATATGGAT
TGGGCCGTGGAACAGGCCCACTTCGCCCTGTTCTTCAACCAGGGCCAGTGCTGCTGTGCC
GGCTCCCGGACCTTCGTGCAGGAGGACATCTATGATGAGTTTGTGGTGCGGAGCGTTGCC
CGGGCCAAGTCTCGGGTGGTCGGGAACCCCTTTGATAGCAAGACCGAGCAGGGGCCGCAG
GTGGATGAAACTCAGTTTAAGAAGATCCTCGGCTACATCAACACGGGGAAGCAAGAGGGG
GCGAAGCTGCTGTGTGGTGGGGGCATTGCTGCTGACCGTGGTTACTTCATCCAGCCCACT
GTGTTTGGAGATGTGCAGGATGGCATGACCATCGCCAAGGAGGAGATCTTCGGGCCAGTG
ATGCAGATCCTGAAGTTCAAGACCATAGAGGAGGTTGTTGGGAGAGCCAACAATTCCACG
TACGGGCTGGCCGCAGCTGTCTTCACAAAGGATTTGGACAAGGCCAATTACCTGTCCCAG
GCCCTCCAGGCGGGCACTGTGTGGGTCAACTGCTATGATGTGTTTGGAGCCCAGTCACCC
TTTGGTGGCTACAAGATGTCGGGGAGTGGCCGGGAGTTGGGCGAGTACGGGCTGCAGGCA
TACACTGAAGTGAAAACTGTCACAGTCAAAGTGCCTCAGAAGAACTCATAA
|
| Enzyme 5 GenBank Gene ID |
X05409  |
| Enzyme 5 GeneCard ID |
ALDH2  |
| Enzyme 5 GenAtlas ID |
ALDH2  |
| Enzyme 5 HGNC ID |
HGNC:404  |
| Enzyme 5 Chromosome Location |
1 |
| Enzyme 5 Locus |
12q24.2 |
| Enzyme 5 SNPs |
SNPJam Report  |
| Enzyme 5 General References |
- Braun T, Bober E, Singh S, Agarwal DP, Goedde HW: Evidence for a signal peptide at the amino-terminal end of human mitochondrial aldehyde dehydrogenase. FEBS Lett. 1987 May 11;215(2):233-6. [PubMed
]
- Braun T, Bober E, Singh S, Agarwal DP, Goedde HW: Isolation and sequence analysis of a full length cDNA clone coding for human mitochondrial aldehyde dehydrogenase. Nucleic Acids Res. 1987 Apr 10;15(7):3179. [PubMed
]
- Hsu LC, Bendel RE, Yoshida A: Genomic structure of the human mitochondrial aldehyde dehydrogenase gene. Genomics. 1988 Jan;2(1):57-65. [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
]
- Hempel J, Kaiser R, Jornvall H: Mitochondrial aldehyde dehydrogenase from human liver. Primary structure, differences in relation to the cytosolic enzyme, and functional correlations. Eur J Biochem. 1985 Nov 15;153(1):13-28. [PubMed
]
- Hsu LC, Tani K, Fujiyoshi T, Kurachi K, Yoshida A: Cloning of cDNAs for human aldehyde dehydrogenases 1 and 2. Proc Natl Acad Sci U S A. 1985 Jun;82(11):3771-5. [PubMed
]
- Yoshida A, Ikawa M, Hsu LC, Tani K: Molecular abnormality and cDNA cloning of human aldehyde dehydrogenases. Alcohol. 1985 Jan-Feb;2(1):103-6. [PubMed
]
- Aboulaich N, Vainonen JP, Stralfors P, Vener AV: Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes. Biochem J. 2004 Oct 15;383(Pt 2):237-48. [PubMed
]
- Agarwal DP, Goedde HW: Human aldehyde dehydrogenase isozymes and alcohol sensitivity. Isozymes Curr Top Biol Med Res. 1987;16:21-48. [PubMed
]
- Hempel J, Hoog JO, Jornvall H: Mitochondrial aldehyde dehydrogenase. Homology of putative targeting sequence to that of carbamyl phosphate synthetase I revealed by correlation of cDNA and protein data. FEBS Lett. 1987 Sep 28;222(1):95-8. [PubMed
]
- Ni L, Zhou J, Hurley TD, Weiner H: Human liver mitochondrial aldehyde dehydrogenase: three-dimensional structure and the restoration of solubility and activity of chimeric forms. Protein Sci. 1999 Dec;8(12):2784-90. [PubMed
]
- Yoshida A, Huang IY, Ikawa M: Molecular abnormality of an inactive aldehyde dehydrogenase variant commonly found in Orientals. Proc Natl Acad Sci U S A. 1984 Jan;81(1):258-61. [PubMed
]
- Novoradovsky A, Tsai SJ, Goldfarb L, Peterson R, Long JC, Goldman D: Mitochondrial aldehyde dehydrogenase polymorphism in Asian and American Indian populations: detection of new ALDH2 alleles. Alcohol Clin Exp Res. 1995 Oct;19(5):1105-10. [PubMed
]
|
| Enzyme 5 Metabolite References |
Not Available |
|
Enzyme 6
[top]
|
| Enzyme 6 ID |
5531 |
| Enzyme 6 Name |
Fatty aldehyde dehydrogenase |
| Enzyme 6 Synonyms |
- Aldehyde dehydrogenase 10
- Aldehyde dehydrogenase family 3 member A2
- Microsomal aldehyde dehydrogenase
|
| Enzyme 6 Gene Name |
ALDH3A2 |
| Enzyme 6 Protein Sequence |
>Fatty aldehyde dehydrogenase
MELEVRRVRQAFLSGRSRPLRFRLQQLEALRRMVQEREKDILTAIAADLCKSEFNVYSQE
VITVLGEIDFMLENLPEWVTAKPVKKNVLTMLDEAYIQPQPLGVVLIIGAWNYPFVLTIQ
PLIGAIAAGNAVIIKPSELSENTAKILAKLLPQYLDQDLYIVINGGVEETTELLKQRFDH
IFYTGNTAVGKIVMEAAAKHLTPVTLELGGKSPCYIDKDCDLDIVCRRITWGKYMNCGQT
CIAPDYILCEASLQNQIVWKIKETVKEFYGENIKESPDYERIINLRHFKRILSLLEGQKI
AFGGETDEATRYIAPTVLTDVDPKTKVMQEEIFGPILPIVPVKNVDEAINFINEREKPLA
LYVFSHNHKLIKRMIDETSSGGVTGNDVIMHFTLNSFPFGGVGSSGMGAYHGKHSFDTFS
HQRPCLLKSLKREGANKLRYPPNSQSKVDWGKFFLLKRFNKEKLGLLLLTFLGIVAAVLV
KAEYY
|
| Enzyme 6 Number of Residues |
485 |
| Enzyme 6 Molecular Weight |
54847.4 |
| Enzyme 6 Theoretical pI |
7.99 |
| Enzyme 6 GO Classification |
| Function |
- aldehyde dehydrogenase [NAD(P)+] activity
- catalytic activity
- oxidoreductase activity
- oxidoreductase activity, acting on the aldehyde or oxo group of donors
- oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor
|
| Process |
- cellular aldehyde metabolic process
- cellular metabolic process
- metabolic process
- oxidation reduction
|
| Component |
| — |
|
| Enzyme 6 General Function |
Involved in oxidoreductase activity |
| Enzyme 6 Specific Function |
Catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length |
| Enzyme 6 Pathways |
|
| Enzyme 6 Reactions |
- an aldehyde + NAD+ + H2O = an acid + NADH + H+ [RN:R00538]
|
| Enzyme 6 Pfam Domain Function |
|
| Enzyme 6 Signals |
|
| Enzyme 6 Transmembrane Regions |
|
| Enzyme 6 Essentiality |
Not Available |
| Enzyme 6 GenBank ID Protein |
Not Available |
| Enzyme 6 UniProtKB/Swiss-Prot ID |
P51648  |
| Enzyme 6 UniProtKB/Swiss-Prot Entry Name |
AL3A2_HUMAN  |
| Enzyme 6 PDB ID |
Not Available |
| Enzyme 6 Cellular Location |
Not Available |
| Enzyme 6 Gene Sequence |
>1458 bp
ATGGAGCTCGAAGTCCGGCGGGTCCGACAGGCGTTCCTGTCCGGCCGGTCGCGACCTCTG
CGGTTTCGGCTGCAGCAGCTGGAGGCCCTGCGGAGGATGGTGCAGGAGCGCGAGAAGGAT
ATCCTGACGGCCATCGCCGCCGACCTGTGCAAGAGTGAATTCAATGTGTACAGTCAGGAA
GTCATTACTGTCCTTGGGGAAATTGATTTTATGCTTGAGAATCTTCCTGAATGGGTTACT
GCTAAACCAGTTAAGAAGAACGTGCTCACCATGCTGGATGAGGCCTATATTCAGCCACAG
CCTCTGGGAGTGGTGCTGATAATCGGAGCTTGGAATTACCCCTTCGTTCTCACCATTCAG
CCACTGATAGGAGCCATCGCTGCAGGAAATGCTGTGATTATAAAGCCTTCTGAACTGAGT
GAAAATACAGCCAAGATCTTGGCAAAGCTTCTCCCTCAGTATTTAGACCAGGATCTCTAT
ATTGTTATTAATGGTGGTGTTGAGGAAACCACGGAGCTCCTGAAGCAGCGATTTGACCAC
ATTTTCTATACGGGAAACACTGCGGTTGGCAAAATTGTCATGGAAGCTGCTGCCAAGCAT
CTGACCCCTGTGACTCTTGAACTGGGAGGGAAAAGTCCATGTTATATTGATAAAGATTGT
GACCTGGACATTGTTTGCAGACGCATAACCTGGGGAAAATACATGAATTGTGGCCAAACC
TGCATTGCACCCGACTATATTCTCTGTGAAGCATCCCTCCAAAATCAAATTGTATGGAAG
ATTAAGGAAACAGTGAAGGAATTTTATGGAGAAAATATAAAAGAGTCTCCTGATTATGAA
AGGATCATCAATCTTCGTCATTTTAAGAGGATACTAAGTTTGCTTGAAGGACAAAAGATA
GCTTTTGGTGGGGAGACTGATGAGGCCACACGCTACATAGCCCCAACAGTACTTACCGAT
GTTGATCCTAAAACCAAGGTGATGCAAGAAGAAATTTTTGGACCAATTCTTCCAATAGTG
CCTGTGAAAAATGTAGATGAGGCCATAAATTTCATAAATGAACGTGAAAAGCCTCTGGCT
CTTTATGTATTTTCGCATAACCATAAGCTCATCAAACGGATGATTGATGAGACATCCAGT
GGAGGTGTCACAGGCAATGACGTCATTATGCACTTCACGCTCAACTCTTTCCCATTTGGA
GGAGTGGGTTCCAGTGGGATGGGAGCTTATCACGGAAAACATAGTTTTGATACTTTTTCT
CATCAGCGTCCCTGTTTATTAAAAAGTTTAAAGAGAGAAGGTGCTAACAAACTCAGATAT
CCTCCCAACAGCCAGTCAAAGGTGGATTGGGGGAAATTTTTTCTCTTGAAACGGTTCAAC
AAAGAAAAACTCGGTCTCCTGTTGCTCACTTTCCTGGGTATTGTAGCCGCTGTGCTTGTC
AAGGCAGAATATTACTGA
|
| Enzyme 6 GenBank Gene ID |
L47162  |
| Enzyme 6 GeneCard ID |
ALDH3A2  |
| Enzyme 6 GenAtlas ID |
ALDH3A2  |
| Enzyme 6 HGNC ID |
HGNC:403  |
| Enzyme 6 Chromosome Location |
1 |
| Enzyme 6 Locus |
17p11.2 |
| Enzyme 6 SNPs |
SNPJam Report  |
| Enzyme 6 General References |
- De Laurenzi V, Rogers GR, Hamrock DJ, Marekov LN, Steinert PM, Compton JG, Markova N, Rizzo WB: Sjogren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nat Genet. 1996 Jan;12(1):52-7. [PubMed
]
- Rogers GR, Markova NG, De Laurenzi V, Rizzo WB, Compton JG: Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH). Genomics. 1997 Jan 15;39(2):127-35. [PubMed
]
- Chang C, Yoshida A: Human fatty aldehyde dehydrogenase gene (ALDH10): organization and tissue-dependent expression. Genomics. 1997 Feb 15;40(1):80-5. [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
]
- Sillen A, Jagell S, Wadelius C: A missense mutation in the FALDH gene identified in Sjogren-Larsson syndrome patients originating from the northern part of Sweden. Hum Genet. 1997 Aug;100(2):201-3. [PubMed
]
- Sillen A, Anton-Lamprecht I, Braun-Quentin C, Kraus CS, Sayli BS, Ayuso C, Jagell S, Kuster W, Wadelius C: Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjogren-Larsson syndrome. Hum Mutat. 1998;12(6):377-84. [PubMed
]
- Rizzo WB, Carney G, Lin Z: The molecular basis of Sjogren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene. Am J Hum Genet. 1999 Dec;65(6):1547-60. [PubMed
]
- Aoki N, Suzuki H, Ito K, Ito M: A novel point mutation of the FALDH gene in a Japanese family with Sjogren-Larsson syndrome. J Invest Dermatol. 2000 May;114(5):1065-6. [PubMed
]
|
| Enzyme 6 Metabolite References |
Not Available |
|
Enzyme 7
[top]
|
| Enzyme 7 ID |
5532 |
| Enzyme 7 Name |
Aldehyde dehydrogenase X, mitochondrial |
| Enzyme 7 Synonyms |
- Aldehyde dehydrogenase 5
- Aldehyde dehydrogenase family 1 member B1
|
| Enzyme 7 Gene Name |
ALDH1B1 |
| Enzyme 7 Protein Sequence |
>Aldehyde dehydrogenase X, mitochondrial
MLRFLAPRLLSLQGRTARYSSAAALPSPILNPDIPYNQLFINNEWQDAVSKKTFPTVNPT
TGEVIGHVAEGDRADVDRAVKAAREAFRLGSPWRRMDASERGRLLNLLADLVERDRVYLA
SLETLDNGKPFQESYALDLDEVIKVYRYFAGWADKWHGKTIPMDGQHFCFTRHEPVGVCG
QIIPWNFPLVMQGWKLAPALATGNTVVMKVAEQTPLSALYLASLIKEAGFPPGVVNIITG
YGPTAGAAIAQHMDVDKVAFTGSTEVGHLIQKAAGDSNLKRVTLELGGKSPSIVLADADM
EHAVEQCHEALFFNMGQCCCAGSRTFVEESIYNEFLERTVEKAKQRKVGNPFELDTQQGP
QVDKEQFERVLGYIQLGQKEGAKLLCGGERFGERGFFIKPTVFGGVQDDMRIAKEEIFGP
VQPLFKFKKIEEVVERANNTRYGLAAAVFTRDLDKAMYFTQALQAGTVWVNTYNIVTCHT
PFGGFKESGNGRELGEDGLKAYTEVKTVTIKVPQKNS
|
| Enzyme 7 Number of Residues |
517 |
| Enzyme 7 Molecular Weight |
57238.0 |
| Enzyme 7 Theoretical pI |
6.79 |
| Enzyme 7 GO Classification |
| Function |
- catalytic activity
- oxidoreductase activity
|
| Process |
- metabolic process
- oxidation reduction
|
| Component |
| — |
|
| Enzyme 7 General Function |
Involved in oxidoreductase activity |
| Enzyme 7 Specific Function |
ALDHs play a major role in the detoxification of alcohol-derived acetaldehyde. They are involved in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation |
| Enzyme 7 Pathways |
|
| Enzyme 7 Reactions |
- an aldehyde + NAD+ + H2O = an acid + NADH + H+ [RN:R00538]
|
| Enzyme 7 Pfam Domain Function |
|
| Enzyme 7 Signals |
|
| Enzyme 7 Transmembrane Regions |
|
| Enzyme 7 Essentiality |
Not Available |
| Enzyme 7 GenBank ID Protein |
Not Available |
| Enzyme 7 UniProtKB/Swiss-Prot ID |
P30837  |
| Enzyme 7 UniProtKB/Swiss-Prot Entry Name |
AL1B1_HUMAN  |
| Enzyme 7 PDB ID |
Not Available |
| Enzyme 7 Cellular Location |
Not Available |
| Enzyme 7 Gene Sequence |
>1554 bp
ATGCTGCGCTTCCTGGCACCCCGGCTGCTTAGCCTCCAGGGCAGGACCGCCCGCTACTCC
TCGGCAGCAGCCCTCCCAAGCCCCATTCTGAACCCAGACATCCCCTACAACCAGCTGTTC
ATCAACAATGAATGGCAAGATGCAGTCAGCAAGAAGACCTTCCCGACGGTCAACCCTACC
ACCGGGGAGGTCATCGGGCACGTGGCTGAAGGTGACCGGGCTGATGTGGATCGGGCCGTG
AAAGCAGCCCGGGAAGCCTTCCGCCTGGGGTCCCCATGGCGCCGGATGGATGCCTCTGAG
CGGGGCCGGCTGCTGAACCTCCTGGCAGACCTAGTGGAGCGGGATCGAGTCTACTTGGCC
TCACTCGAGACCTTGGACAATGGGAAGCCTTTCCAAGAGTCTTACGCCTTGGACTTGGAT
GAGGTCATCAAGGTGTATCGGTACTTTGCTGGCTGGGCTGACAAGTGGCATGGCAAGACC
ATCCCCATGGATGGCCAGCATTTCTGCTTCACCCGGCATGAGCCCGTTGGTGTCTGTGGC
CAGATCATCCCGTGGAACTTCCCCTTGGTCATGCAGGGTTGGAAACTTGCCCCGGCACTC
GCCACAGGCAACACTGTGGTTATGAAGGTGGCAGAGCAGACCCCCCTCTCTGCCCTGTAT
TTGGCCTCCCTCATCAAGGAGGCAGGCTTTCCCCCTGGGGTGGTGAACATCATCACGGGG
TATGGCCCAACAGCAGGTGCGGCCATCGCCCAGCACATGGATGTTGACAAAGTTGCCTTC
ACCGGTTCCACCGAGGTGGGCCACCTGATCCAGAAAGCAGCTGGCGATTCCAACCTCAAG
AGAGTCACCCTGGAGCTGGGTGGTAAGAGCCCCAGCATCGTGCTGGCCGATGCTGACATG
GAGCATGCCGTGGAGCAGTGCCACGAAGCCCTGTTCTTCAACATGGGCCAGTGCTGCTGT
GCTGGCTCCCGGACCTTCGTGGAAGAATCCATCTACAATGAGTTTCTCGAGAGAACCGTG
GAGAAAGCAAAGCAGAGGAAAGTGGGGAACCCCTTTGAGCTGGACACCCAGCAGGGGCCT
CAGGTGGACAAGGAGCAGTTTGAACGAGTCCTAGGCTACATCCAGCTTGGCCAGAAGGAG
GGCGCAAAACTCCTCTGTGGCGGAGAGCGTTTCGGGGAGCGTGGTTTCTTCATCAAGCCT
ACTGTCTTTGGTGGCGTGCAGGATGACATGAGAATTGCCAAAGAGGAGATCTTTGGGCCT
GTGCAGCCCCTGTTCAAGTTCAAGAAGATTGAGGAGGTGGTTGAGAGGGCCAACAACACC
AGGTATGGCCTGGCTGCGGCTGTGTTCACCCGGGATCTGGACAAGGCCATGTACTTCACC
CAGGCACTCCAGGCCGGGACCGTGTGGGTAAACACCTACAACATCGTCACCTGCCACACG
CCATTTGGAGGGTTTAAGGAATCTGGAAACGGGAGGGAGCTGGGTGAGGATGGGCTTAAG
GCCTACACAGAGGTAAAGACGGTCACCATCAAGGTTCCTCAGAAGAACTCGTAG
|
| Enzyme 7 GenBank Gene ID |
BT007418  |
| Enzyme 7 GeneCard ID |
ALDH1B1  |
| Enzyme 7 GenAtlas ID |
ALDH1B1  |
| Enzyme 7 HGNC ID |
HGNC:407  |
| Enzyme 7 Chromosome Location |
9 |
| Enzyme 7 Locus |
9p11.1 |
| Enzyme 7 SNPs |
SNPJam Report  |
| Enzyme 7 General References |
- Hsu LC, Chang WC: Cloning and characterization of a new functional human aldehyde dehydrogenase gene. J Biol Chem. 1991 Jul 5;266(19):12257-65. [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
]
- Sherman D, Dave V, Hsu LC, Peters TJ, Yoshida A: Diverse polymorphism within a short coding region of the human aldehyde dehydrogenase-5 (ALDH5) gene. Hum Genet. 1993 Nov;92(5):477-80. [PubMed
]
|
| Enzyme 7 Metabolite References |
Not Available |
|
Enzyme 8
[top]
|
| Enzyme 8 ID |
5702 |
| Enzyme 8 Name |
Glycine amidinotransferase, mitochondrial |
| Enzyme 8 Synonyms |
- L-arginine:glycine amidinotransferase
- Transamidinase
|
| Enzyme 8 Gene Name |
GATM |
| Enzyme 8 Protein Sequence |
>Glycine amidinotransferase, mitochondrial
MLRVRCLRGGSRGAEAVHYIGSRLGRTLTGWVQRTFQSTQAATASSRNSCAADDKATEPL
PKDCPVSSYNEWDPLEEVIVGRAENACVPPFTIEVKANTYEKYWPFYQKQGGHYFPKDHL
KKAVAEIEEMCNILKTEGVTVRRPDPIDWSLKYKTPDFESTGLYSAMPRDILIVVGNEII
EAPMAWRSRFFEYRAYRSIIKDYFHRGAKWTTAPKPTMADELYNQDYPIHSVEDRHKLAA
QGKFVTTEFEPCFDAADFIRAGRDIFAQRSQVTNYLGIEWMRRHLAPDYRVHIISFKDPN
PMHIDATFNIIGPGIVLSNPDRPCHQIDLFKKAGWTIITPPTPIIPDDHPLWMSSKWLSM
NVLMLDEKRVMVDANEVPIQKMFEKLGITTIKVNIRNANSLGGGFHCWTCDVRRRGTLQS
YLD
|
| Enzyme 8 Number of Residues |
423 |
| Enzyme 8 Molecular Weight |
48455.0 |
| Enzyme 8 Theoretical pI |
8.15 |
| Enzyme 8 GO Classification |
Not Available |
| Enzyme 8 General Function |
Amino acid transport and metabolism |
| Enzyme 8 Specific Function |
Catalyzes the biosynthesis of guanidinoacetate, the immediate precursor of creatine. Creatine plays a vital role in energy metabolism in muscle tissues. May play a role in embryonic and central nervous system development. May be involved in the response to heart failure by elevating local creatine synthesis |
| Enzyme 8 Pathways |
- Arginine and Proline Metabolism (map00330
)
- Glycine, Serine and Threonine Metabolism (map00260
)
|
| Enzyme 8 Reactions |
- L-arginine + glycine = L-ornithine + guanidinoacetate [RN:R00565]
|
| Enzyme 8 Pfam Domain Function |
Not Available |
| Enzyme 8 Signals |
|
| Enzyme 8 Transmembrane Regions |
|
| Enzyme 8 Essentiality |
Not Available |
| Enzyme 8 GenBank ID Protein |
Not Available |
| Enzyme 8 UniProtKB/Swiss-Prot ID |
P50440  |
| Enzyme 8 UniProtKB/Swiss-Prot Entry Name |
GATM_HUMAN  |
| Enzyme 8 PDB ID |
3JDW  |
| Enzyme 8 PDB File |
Show |
| Enzyme 8 3D Structure |
|
| Enzyme 8 Cellular Location |
Not Available |
| Enzyme 8 Gene Sequence |
>1272 bp
ATGCTGCGGGTGCGGTGTCTGCGCGGCGGGAGCCGCGGCGCCGAGGCGGTGCACTACATC
GGATCTCGGCTTGGACGAACCTTGACAGGATGGGTGCAGCGAACTTTCCAGAGCACCCAG
GCAGCTACGGCTTCCTCCCGGAACTCCTGTGCAGCTGACGACAAAGCCACTGAGCCTCTG
CCCAAGGACTGCCCTGTCTCTTCTTACAACGAATGGGACCCCTTAGAGGAAGTGATAGTG
GGCAGAGCAGAAAACGCCTGTGTTCCACCGTTCACCATCGAGGTGAAGGCCAACACATAT
GAAAAGTACTGGCCATTTTACCAGAAGCAAGGAGGGCATTATTTTCCCAAAGATCATTTG
AAAAAGGCTGTTGCTGAAATTGAAGAAATGTGCAATATTTTAAAAACGGAAGGAGTGACA
GTAAGGAGGCCTGACCCCATTGACTGGTCATTGAAGTATAAAACTCCTGATTTTGAGTCT
ACGGGTTTATACAGTGCAATGCCTCGAGACATCCTGATAGTTGTGGGCAATGAGATTATC
GAGGCTCCCATGGCATGGCGTTCACGCTTCTTTGAGTACCGAGCGTACAGGTCAATTATC
AAAGACTACTTCCACCGTGGCGCCAAGTGGACAACAGCTCCTAAGCCCACAATGGCTGAT
GAGCTTTATAACCAGGATTATCCCATCCACTCTGTAGAAGACAGACACAAATTGGCTGCT
CAGGGAAAATTTGTGACAACTGAGTTTGAGCCATGCTTTGATGCTGCTGACTTCATTCGA
GCTGGAAGAGATATTTTTGCACAGAGAAGCCAGGTTACAAACTACCTAGGCATTGAATGG
ATGCGTAGGCATCTTGCTCCAGACTACAGAGTGCATATCATCTCCTTTAAAGATCCCAAT
CCCATGCATATTGATGCTACCTTCAACATCATTGGACCTGGTATTGTGCTTTCCAACCCT
GACCGACCATGTCACCAGATTGATCTTTTCAAGAAAGCAGGATGGACTATCATTACTCCT
CCAACACCAATCATCCCAGACGATCATCCACTCTGGATGTCATCCAAATGGCTTTCCATG
AATGTCTTAATGCTAGATGAAAAACGTGTTATGGTGGATGCCAATGAAGTTCCAATTCAA
AAGATGTTTGAAAAGCTGGGTATCACTACCATTAAAGTTAACATTCGTAATGCCAATTCC
CTGGGAGGAGGCTTCCATTGCTGGACCTGCGATGTCCGGCGCCGAGGCACCCTACAGTCC
TACTTGGACTGA
|
| Enzyme 8 GenBank Gene ID |
S68805  |
| Enzyme 8 GeneCard ID |
GATM  |
| Enzyme 8 GenAtlas ID |
GATM  |
| Enzyme 8 HGNC ID |
HGNC:4175  |
| Enzyme 8 Chromosome Location |
1 |
| Enzyme 8 Locus |
15q21.1 |
| Enzyme 8 SNPs |
SNPJam Report  |
| Enzyme 8 General References |
- Humm A, Huber R, Mann K: The amino acid sequences of human and pig L-arginine:glycine amidinotransferase. FEBS Lett. 1994 Feb 14;339(1-2):101-7. [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
]
- 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
]
- Gross MD, Eggen MA, Simon AM, Van Pilsum JF: The purification and characterization of human kidney L-arginine:glycine amidinotransferase. Arch Biochem Biophys. 1986 Dec;251(2):747-55. [PubMed
]
- Humm A, Fritsche E, Mann K, Gohl M, Huber R: Recombinant expression and isolation of human L-arginine:glycine amidinotransferase and identification of its active-site cysteine residue. Biochem J. 1997 Mar 15;322 ( Pt 3):771-6. [PubMed
]
- Humm A, Fritsche E, Steinbacher S: Structure and reaction mechanism of L-arginine:glycine amidinotransferase. Biol Chem. 1997 Mar-Apr;378(3-4):193-7. [PubMed
]
- Cullen ME, Yuen AH, Felkin LE, Smolenski RT, Hall JL, Grindle S, Miller LW, Birks EJ, Yacoub MH, Barton PJ: Myocardial expression of the arginine:glycine amidinotransferase gene is elevated in heart failure and normalized after recovery: potential implications for local creatine synthesis. Circulation. 2006 Jul 4;114(1 Suppl):I16-20. [PubMed
]
- McMinn J, Wei M, Schupf N, Cusmai J, Johnson EB, Smith AC, Weksberg R, Thaker HM, Tycko B: Unbalanced placental expression of imprinted genes in human intrauterine growth restriction. Placenta. 2006 Jun-Jul;27(6-7):540-9. Epub 2005 Aug 24. [PubMed
]
- Monk D, Arnaud P, Apostolidou S, Hills FA, Kelsey G, Stanier P, Feil R, Moore GE: Limited evolutionary conservation of imprinting in the human placenta. Proc Natl Acad Sci U S A. 2006 Apr 25;103(17):6623-8. Epub 2006 Apr 13. [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
]
- Humm A, Fritsche E, Steinbacher S, Huber R: Crystal structure and mechanism of human L-arginine:glycine amidinotransferase: a mitochondrial enzyme involved in creatine biosynthesis. EMBO J. 1997 Jun 16;16(12):3373-85. [PubMed
]
- Fritsche E, Humm A, Huber R: Substrate binding and catalysis by L-arginine:glycine amidinotransferase--a mutagenesis and crystallographic study. Eur J Biochem. 1997 Jul 15;247(2):483-90. [PubMed
]
- Fritsche E, Humm A, Huber R: The ligand-induced structural changes of human L-Arginine:Glycine amidinotransferase. A mutational and crystallographic study. J Biol Chem. 1999 Jan 29;274(5):3026-32. [PubMed
]
- Item CB, Stockler-Ipsiroglu S, Stromberger C, Muhl A, Alessandri MG, Bianchi MC, Tosetti M, Fornai F, Cioni G: Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. Am J Hum Genet. 2001 Nov;69(5):1127-33. Epub 2001 Sep 10. [PubMed
]
|
| Enzyme 8 Metabolite References |
Not Available |
|
Enzyme 9
[top]
|
| Enzyme 9 ID |
5975 |
| Enzyme 9 Name |
Glutamate decarboxylase 2 |
| Enzyme 9 Synonyms |
- 65 kDa glutamic acid decarboxylase
- GAD-65
- Glutamate decarboxylase 65 kDa isoform
|
| Enzyme 9 Gene Name |
GAD2 |
| Enzyme 9 Protein Sequence |
>Glutamate decarboxylase 2
MASPGSGFWSFGSEDGSGDSENPGTARAWCQVAQKFTGGIGNKLCALLYGDAEKPAESGG
SQPPRAAARKAACACDQKPCSCSKVDVNYAFLHATDLLPACDGERPTLAFLQDVMNILLQ
YVVKSFDRSTKVIDFHYPNELLQEYNWELADQPQNLEEILMHCQTTLKYAIKTGHPRYFN
QLSTGLDMVGLAADWLTSTANTNMFTYEIAPVFVLLEYVTLKKMREIIGWPGGSGDGIFS
PGGAISNMYAMMIARFKMFPEVKEKGMAALPRLIAFTSEHSHFSLKKGAAALGIGTDSVI
LIKCDERGKMIPSDLERRILEAKQKGFVPFLVSATAGTTVYGAFDPLLAVADICKKYKIW
MHVDAAWGGGLLMSRKHKWKLSGVERANSVTWNPHKMMGVPLQCSALLVREEGLMQNCNQ
MHASYLFQQDKHYDLSYDTGDKALQCGRHVDVFKLWLMWRAKGTTGFEAHVDKCLELAEY
LYNIIKNREGYEMVFDGKPQHTNVCFWYIPPSLRTLEDNEERMSRLSKVAPVIKARMMEY
GTTMVSYQPLGDKVNFFRMVISNPAATHQDIDFLIEEIERLGQDL
|
| Enzyme 9 Number of Residues |
585 |
| Enzyme 9 Molecular Weight |
65410.8 |
| Enzyme 9 Theoretical pI |
6.89 |
| Enzyme 9 GO Classification |
| Function |
- binding
- carbon-carbon lyase activity
- carboxy-lyase activity
- catalytic activity
- cofactor binding
- lyase activity
- pyridoxal phosphate binding
|
| Process |
- carboxylic acid metabolic process
- cellular metabolic process
- metabolic process
- organic acid metabolic process
- oxoacid metabolic process
|
| Component |
| — |
|
| Enzyme 9 General Function |
Involved in carboxy-lyase activity |
| Enzyme 9 Specific Function |
Catalyzes the production of GABA |
| Enzyme 9 Pathways |
|
| Enzyme 9 Reactions |
- L-glutamate = 4-aminobutanoate + CO2 [RN:R00261]
|
| Enzyme 9 Pfam Domain Function |
|
| Enzyme 9 Signals |
|
| Enzyme 9 Transmembrane Regions |
|
| Enzyme 9 Essentiality |
Not Available |
| Enzyme 9 GenBank ID Protein |
Not Available |
| Enzyme 9 UniProtKB/Swiss-Prot ID |
Q05329  |
| Enzyme 9 UniProtKB/Swiss-Prot Entry Name |
DCE2_HUMAN  |
| Enzyme 9 PDB ID |
Not Available |
| Enzyme 9 Cellular Location |
Not Available |
| Enzyme 9 Gene Sequence |
>1758 bp
ATGGCATCTCCGGGCTCTGGCTTTTGGTCTTTCGGGTCGGAAGATGGCTCTGGGGATTCC
GAGAATCCCGGCACAGCGCGAGCCTGGTGCCAAGTGGCTCAGAAGTTCACGGGCGGCATC
GGAAACAAACTGTGCGCCCTGCTCTACGGAGACGCCGAGAAGCCGGCGGAGAGCGGCGGG
AGCCAACCCCCGCGGGCCGCCGCCCGGAAGGCCGCCTGCGCCTGCGACCAGAAGCCCTGC
AGCTGCTCCAAAGTGGATGTCAACTACGCGTTTCTCCATGCAACAGACCTGCTGCCGGCG
TGTGATGGAGAAAGGCCCACTTTGGCGTTTCTGCAAGATGTTATGAACATTTTACTTCAG
TATGTGGTGAAAAGTTTCGATAGATCAACCAAAGTGATTGATTTCCATTATCCTAATGAG
CTTCTCCAAGAATATAATTGGGAATTGGCAGACCAACCACAAAATTTGGAGGAAATTTTG
ATGCATTGCCAAACAACTCTAAAATATGCAATTAAAACAGGGCATCCTAGATACTTCAAT
CAACTTTCTACTGGTTTGGATATGGTTGGATTAGCAGCAGACTGGCTGACATCAACAGCA
AATACTAACATGTTCACCTATGAAATTGCTCCAGTATTTGTGCTTTTGGAATATGTCACA
CTAAAGAAAATGAGAGAAATCATTGGCTGGCCAGGGGGCTCTGGCGATGGGATATTTTCT
CCCGGTGGCGCCATATCTAACATGTATGCCATGATGATCGCACGCTTTAAGATGTTCCCA
GAAGTCAAGGAGAAAGGAATGGCTGCTCTTCCCAGGCTCATTGCCTTCACGTCTGAACAT
AGTCATTTTTCTCTCAAGAAGGGAGCTGCAGCCTTAGGGATTGGAACAGACAGCGTGATT
CTGATTAAATGTGATGAGAGAGGGAAAATGATTCCATCTGATCTTGAAAGAAGGATTCTT
GAAGCCAAACAGAAAGGGTTTGTTCCTTTCCTCGTGAGTGCCACAGCTGGAACCACCGTG
TACGGAGCATTTGACCCCCTCTTAGCTGTCGCTGACATTTGCAAAAAGTATAAGATCTGG
ATGCATGTGGATGCAGCTTGGGGTGGGGGATTACTGATGTCCCGAAAACACAAGTGGAAA
CTGAGTGGCGTGGAGAGGGCCAACTCTGTGACGTGGAATCCACACAAGATGATGGGAGTC
CCTTTGCAGTGCTCTGCTCTCCTGGTTAGAGAAGAGGGATTGATGCAGAATTGCAACCAA
ATGCATGCCTCCTACCTCTTTCAGCAAGATAAACATTATGACCTGTCCTATGACACTGGA
GACAAGGCCTTACAGTGCGGACGCCACGTTGATGTTTTTAAACTATGGCTGATGTGGAGG
GCAAAGGGGACTACCGGGTTTGAAGCGCATGTTGATAAATGTTTGGAGTTGGCAGAGTAT
TTATACAACATCATAAAAAACCGAGAAGGATATGAGATGGTGTTTGATGGGAAGCCTCAG
CACACAAATGTCTGCTTCTGGTACATTCCTCCAAGCTTGCGTACTCTGGAAGACAATGAA
GAGAGAATGAGTCGCCTCTCGAAGGTGGCTCCAGTGATTAAAGCCAGAATGATGGAGTAT
GGAACCACAATGGTCAGCTACCAACCCTTGGGAGACAAGGTCAATTTCTTCCGCATGGTC
ATCTCAAACCCAGCGGCAACTCACCAAGACATTGACTTCCTGATTGAAGAAATAGAACGC
CTTGGACAAGATTTATAA
|
| Enzyme 9 GenBank Gene ID |
M81882  |
| Enzyme 9 GeneCard ID |
GAD2  |
| Enzyme 9 GenAtlas ID |
GAD2  |
| Enzyme 9 HGNC ID |
HGNC:4093  |
| Enzyme 9 Chromosome Location |
1 |
| Enzyme 9 Locus |
10p11.23 |
| Enzyme 9 SNPs |
SNPJam Report  |
| Enzyme 9 General References |
- Karlsen AE, Hagopian WA, Grubin CE, Dube S, Disteche CM, Adler DA, Barmeier H, Mathewes S, Grant FJ, Foster D, et al.: Cloning and primary structure of a human islet isoform of glutamic acid decarboxylase from chromosome 10. Proc Natl Acad Sci U S A. 1991 Oct 1;88(19):8337-41. [PubMed
]
- Bu DF, Erlander MG, Hitz BC, Tillakaratne NJ, Kaufman DL, Wagner-McPherson CB, Evans GA, Tobin AJ: Two human glutamate decarboxylases, 65-kDa GAD and 67-kDa GAD, are each encoded by a single gene. Proc Natl Acad Sci U S A. 1992 Mar 15;89(6):2115-9. [PubMed
]
- Bu DF, Tobin AJ: The exon-intron organization of the genes (GAD1 and GAD2) encoding two human glutamate decarboxylases (GAD67 and GAD65) suggests that they derive from a common ancestral GAD. Genomics. 1994 May 1;21(1):222-8. [PubMed
]
- Mauch L, Abney CC, Berg H, Scherbaum WA, Liedvogel B, Northemann W: Characterization of a linear epitope within the human pancreatic 64-kDa glutamic acid decarboxylase and its autoimmune recognition by sera from insulin-dependent diabetes mellitus patients. Eur J Biochem. 1993 Mar 1;212(2):597-603. [PubMed
]
- Kim J, Richter W, Aanstoot HJ, Shi Y, Fu Q, Rajotte R, Warnock G, Baekkeskov S: Differential expression of GAD65 and GAD67 in human, rat, and mouse pancreatic islets. Diabetes. 1993 Dec;42(12):1799-808. [PubMed
]
- Namchuk M, Lindsay L, Turck CW, Kanaani J, Baekkeskov S: Phosphorylation of serine residues 3, 6, 10, and 13 distinguishes membrane anchored from soluble glutamic acid decarboxylase 65 and is restricted to glutamic acid decarboxylase 65alpha. J Biol Chem. 1997 Jan 17;272(3):1548-57. [PubMed
]
- Kanaani J, el-Husseini Ael-D, Aguilera-Moreno A, Diacovo JM, Bredt DS, Baekkeskov S: A combination of three distinct trafficking signals mediates axonal targeting and presynaptic clustering of GAD65. J Cell Biol. 2002 Sep 30;158(7):1229-38. [PubMed
]
- Corper AL, Stratmann T, Apostolopoulos V, Scott CA, Garcia KC, Kang AS, Wilson IA, Teyton L: A structural framework for deciphering the link between I-Ag7 and autoimmune diabetes. Science. 2000 Apr 21;288(5465):505-11. [PubMed
]
- Fenalti G, Law RH, Buckle AM, Langendorf C, Tuck K, Rosado CJ, Faux NG, Mahmood K, Hampe CS, Banga JP, Wilce M, Schmidberger J, Rossjohn J, El-Kabbani O, Pike RN, Smith AI, Mackay IR, Rowley MJ, Whisstock JC: GABA production by glutamic acid decarboxylase is regulated by a dynamic catalytic loop. Nat Struct Mol Biol. 2007 Apr;14(4):280-6. Epub 2007 Mar 25. [PubMed
]
|
| Enzyme 9 Metabolite References |
Not Available |
|
Enzyme 10
[top]
|
| Enzyme 10 ID |
7724 |
| Enzyme 10 Name |
Arginine decarboxylase |
| Enzyme 10 Synonyms |
- ADC
- ARGDC
- ODC-paralogue
- ODC-p
- Ornithine decarboxylase-like protein
|
| Enzyme 10 Gene Name |
ADC |
| Enzyme 10 Protein Sequence |
>Arginine decarboxylase
MAGYLSESDFVMVEEGFSTRDLLKELTLGASQATTDEVAAFFVADLGAIVRKHFCFLKCL
PRVRPFYAVKCNSSPGVLKVLAQLGLGFSCANKAEMELVQHIGIPASKIICANPCKQIAQ
IKYAAKHGIQLLSFDNEMELAKVVKSHPSAKMVLCIATDDSHSLSCLSLKFGVSLKSCRH
LLENAKKHHVEVVGVSFHIGSGCPDPQAYAQSIADARLVFEMGTELGHKMHVLDLGGGFP
GTEGAKVRFEEIASVINSALDLYFPEGCGVDIFAELGRYYVTSAFTVAVSIIAKKEVLLD
QPGREEENGSTSKTIVYHLDEGVYGIFNSVLFDNICPTPILQKKPSTEQPLYSSSLWGPA
VDGCDCVAEGLWLPQLHVGDWLVFDNMGAYTVGMGSPFWGTQACHITYAMSRVAWEALRR
QLMAAEQEDDVEGVCKPLSCGWEITDTLCVGPVFTPASIM
|
| Enzyme 10 Number of Residues |
460 |
| Enzyme 10 Molecular Weight |
49979.2 |
| Enzyme 10 Theoretical pI |
5.41 |
| Enzyme 10 GO Classification |
| Function |
|
| Process |
- cellular amino acid and derivative metabolic process
- cellular amino acid derivative metabolic process
- cellular biogenic amine metabolic process
- cellular metabolic process
- metabolic process
- polyamine biosynthetic process
- polyamine metabolic process
|
| Component |
| — |
|
| Enzyme 10 General Function |
Involved in catalytic activity |
| Enzyme 10 Specific Function |
Decarboxylates L-arginine to agmatine. Truncated splice isoforms probably lack activity |
| Enzyme 10 Pathways |
|
| Enzyme 10 Reactions |
- L-arginine = agmatine + CO2 [RN:R00566]
|
| Enzyme 10 Pfam Domain Function |
|
| Enzyme 10 Signals |
|
| Enzyme 10 Transmembrane Regions |
|
| Enzyme 10 Essentiality |
Not Available |
| Enzyme 10 GenBank ID Protein |
Not Available |
| Enzyme 10 UniProtKB/Swiss-Prot ID |
Q96A70  |
| Enzyme 10 UniProtKB/Swiss-Prot Entry Name |
ADC_HUMAN  |
| Enzyme 10 PDB ID |
Not Available |
| Enzyme 10 Cellular Location |
Not Available |
| Enzyme 10 Gene Sequence |
>1383 bp
ATGGCTGGCTACCTGAGTGAATCGGACTTTGTGATGGTGGAGGAGGGCTTCAGTACCCGA
GACCTGCTGAAGGAACTCACTCTGGGGGCCTCACAGGCCACCACGGACGAGGTAGCTGCC
TTCTTCGTGGCTGACCTGGGTGCCATAGTGAGGAAGCACTTTTGCTTTCTGAAGTGCCTG
CCACGAGTCCGGCCCTTTTATGCTGTCAAGTGCAACAGCAGCCCAGGTGTGCTGAAGGTT
CTGGCCCAGCTGGGGCTGGGCTTTAGCTGTGCCAACAAGGCAGAGATGGAGTTGGTCCAG
CATATTGGAATCCCTGCCAGTAAGATCATCTGCGCCAACCCCTGTAAGCAAATTGCACAG
ATCAAATATGCTGCCAAGCATGGGATCCAGCTGCTGAGCTTTGACAATGAGATGGAGCTG
GCAAAGGTGGTAAAGAGCCACCCCAGTGCCAAGATGGTTCTGTGCATTGCTACCGATGAC
TCCCACTCCCTGAGCTGCCTGAGCCTAAAGTTTGGAGTGTCACTGAAATCCTGCAGACAC
CTGCTTGAAAATGCGAAGAAGCACCATGTGGAGGTGGTGGGTGTGAGTTTTCACATTGGC
AGTGGCTGTCCTGACCCTCAGGCCTATGCTCAGTCCATCGCAGACGCCCGGCTCGTGTTT
GAAATGGGCACCGAGCTGGGTCACAAGATGCACGTTCTGGACCTTGGTGGTGGCTTCCCT
GGCACAGAAGGGGCCAAAGTGAGATTTGAAGAGATTGCTTCCGTGATCAACTCAGCCTTG
GACCTGTACTTCCCAGAGGGCTGTGGCGTGGACATCTTTGCTGAGCTGGGGCGCTACTAC
GTGACCTCGGCCTTCACTGTGGCAGTCAGCATCATTGCCAAGAAGGAGGTTCTGCTAGAC
CAGCCTGGCAGGGAGGAGGAAAATGGTTCCACCTCCAAGACCATCGTGTACCACCTTGAT
GAGGGCGTGTATGGGATCTTCAACTCAGTCCTGTTTGACAACATCTGCCCTACCCCCATC
CTGCAGAAGAAACCATCCACGGAGCAGCCCCTGTACAGCAGCAGCCTGTGGGGCCCGGCG
GTTGATGGCTGTGATTGCGTGGCTGAGGGCCTGTGGCTGCCGCAACTACACGTAGGGGAC
TGGCTGGTCTTTGACAACATGGGCGCCTACACTGTGGGCATGGGTTCCCCCTTTTGGGGG
ACCCAGGCCTGCCACATCACCTATGCCATGTCCCGGGTGGCCTGGGAAGCGCTGCGAAGG
CAGCTGATGGCTGCAGAACAGGAGGATGACGTGGAGGGTGTGTGCAAGCCTCTGTCCTGC
GGCTGGGAGATCACAGACACCCTGTGCGTGGGCCCTGTCTTCACCCCAGCGAGCATCATG
TGA
|
| Enzyme 10 GenBank Gene ID |
AY050634  |
| Enzyme 10 GeneCard ID |
ADC  |
| Enzyme 10 GenAtlas ID |
ADC  |
| Enzyme 10 HGNC ID |
HGNC:29957  |
| Enzyme 10 Chromosome Location |
1 |
| Enzyme 10 Locus |
1p35.1 |
| Enzyme 10 SNPs |
SNPJam Report  |
| Enzyme 10 General References |
- Pitkanen LT, Heiskala M, Andersson LC: Expression of a novel human ornithine decarboxylase-like protein in the central nervous system and testes. Biochem Biophys Res Commun. 2001 Oct 12;287(5):1051-7. [PubMed
]
- Zhu MY, Iyo A, Piletz JE, Regunathan S: Expression of human arginine decarboxylase, the biosynthetic enzyme for agmatine. Biochim Biophys Acta. 2004 Jan 22;1670(2):156-64. [PubMed
]
- Nagase T, Kikuno R, Ohara O: Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. DNA Res. 2001 Dec 31;8(6):319-27. [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
]
- 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 10 Metabolite References |
Not Available |
|
Enzyme 11
[top]
|
| Enzyme 11 ID |
7745 |
| Enzyme 11 Name |
Gamma-aminobutyric acid receptor subunit gamma-2 |
| Enzyme 11 Synonyms |
- GABA(A) receptor subunit gamma-2
|
| Enzyme 11 Gene Name |
GABRG2 |
| Enzyme 11 Protein Sequence |
>Gamma-aminobutyric acid receptor subunit gamma-2
MSSPNIWSTGSSVYSTPVFSQKMTVWILLLLSLYPGFTSQKSDDDYEDYASNKTWVLTPK
VPEGDVTVILNNLLEGYDNKLRPDIGVKPTLIHTDMYVNSIGPVNAINMEYTIDIFFAQT
WYDRRLKFNSTIKVLRLNSNMVGKIWIPDTFFRNSKKADAHWITTPNRMLRIWNDGRVLY
TLRLTIDAECQLQLHNFPMDEHSCPLEFSSYGYPREEIVYQWKRSSVEVGDTRSWRLYQF
SFVGLRNTTEVVKTTSGDYVVMSVYFDLSRRMGYFTIQTYIPCTLIVVLSWVSFWINKDA
VPARTSLGITTVLTMTTLSTIARKSLPKVSYVTAMDLFVSVCFIFVFSALVEYGTLHYFV
SNRKPSKDKDKKKKNPAPTIDIRPRSATIQMNNATHLQERDEEYGYECLDGKDCASFFCC
FEDCRTGAWRHGRIHIRIAKMDSYARIFFPTAFCLFNLVYWVSYLYL
|
| Enzyme 11 Number of Residues |
467 |
| Enzyme 11 Molecular Weight |
54161.8 |
| Enzyme 11 Theoretical pI |
8.60 |
| Enzyme 11 GO Classification |
| Function |
- GABA receptor activity
- GABA-A receptor activity
- extracellular ligand-gated ion channel activity
- ion channel activity
- ion transmembrane transporter activity
- ligand-gated ion channel activity
- molecular transducer activity
- receptor activity
- signal transducer activity
- substrate-specific transmembrane transporter activity
- transmembrane receptor activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- G-protein coupled receptor protein signaling pathway
- anion transport
- cell surface receptor linked signaling pathway
- chloride transport
- establishment of localization
- gamma-aminobutyric acid signaling pathway
- inorganic anion transport
- ion transport
- signaling
- signaling pathway
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
- postsynaptic membrane
|
|
| Enzyme 11 General Function |
Involved in ion transport |
| Enzyme 11 Specific Function |
GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel |
| Enzyme 11 Pathways |
Not Available |
| Enzyme 11 Reactions |
Not Available |
| Enzyme 11 Pfam Domain Function |
|
| Enzyme 11 Signals |
|
| Enzyme 11 Transmembrane Regions |
- 274-296
300-322
334-356
444-466
|
| Enzyme 11 Essentiality |
Not Available |
| Enzyme 11 GenBank ID Protein |
31637  |
| Enzyme 11 UniProtKB/Swiss-Prot ID |
P18507  |
| Enzyme 11 UniProtKB/Swiss-Prot Entry Name |
GBRG2_HUMAN  |
| Enzyme 11 PDB ID |
Not Available |
| Enzyme 11 Cellular Location |
Not Available |
| Enzyme 11 Gene Sequence |
>1404 bp
ATGAGTTCACCAAATATATGGAGCACAGGAAGCTCAGTCTACTCGACTCCTGTATTTTCA
CAGAAAATGACGGTGTGGATTCTGCTCCTGCTGTCGCTCTACCCTGGCTTCACTAGCCAG
AAATCTGATGATGACTATGAAGATTATGCTTCTAACAAAACATGGGTCTTGACTCCAAAA
GTTCCTGAGGGTGATGTCACTGTCATCTTAAACAACCTGCTGGAAGGATATGACAATAAA
CTTCGGCCTGATATAGGAGTGAAGCCAACGTTAATTCACACAGACATGTATGTGAATAGC
ATTGGTCCAGTGAACGCTATCAATATGGAATACACTATTGATATATTTTTTGCGCAAATG
TGGTATGACAGACGTTTGAAATTTAACAGCACCATTAAAGTCCTCCGATTGAACAGCAAC
ATGGTGGGGAAAATCTGGATTCCAGACACTTTCTTCAGAAATTCCAAAAAAGCTGATGCA
CACTGGATCACCACCCCCAACAGGATGCTGAGAATTTGGAATGATGGTCGAGTGCTCTAC
TCCCTAAGGTTGACAATTGATGCTGAGTGCCAATTACAATTGCACAATTTTCCAATGGAT
GAACACTCCTGCCCCTTGGAGTTCTCCAGTTATGGCTATCCACGTGAAGAAATTGTTTAT
CAATGGAAGCGAAGTTCTGTTGAAGTGGGCGACACAAGATCCTGGAGGCTTTATCAATTC
TCATTTGTTGGTCTAAGAAATACCACCGAAGTAGTGAAGACAACTTCCGGAGATTATGTG
GTCATGTCTGTCTACTTTGATCTGAGCAGAAGAATGGGATACTTTACCATCCAGACCTAT
ATCCCCTGCACACTCATTGTCGTCCTATCCTGGGTGTCTTTCTGGATCAATAAGGATGCT
GTTCCAGCCAGAACATCTTTAGGTATCACCACTGTCCTGACAATGACCACCCTCAGCACC
ATTGCCCGGAAATCGCTCCCCAAGGTCTCCTATGTCACAGCGATGGATCTCTTTGTATCT
GTTTGTTTCATCTTTGTCTTCTCTGCTCTGGTGGAGTATGGCACCTTGCATTATTTTGTC
AGCAACCGGAAACCAAGCAAGGACAAAGATAAAAAGAAGAAAAACCCTGCCCCTACCATT
GATATCCGCCCAAGATCAGCAACCATTCAAATGAATAATGCTACACACCTTCAAGAGAGA
GATGAAGAGTACGGCTATGAGTGTCTGGACGGCAAGGACTGTGCCAGTTTTTTCTGCTGT
TTTGAAGATTGTCGAACAGGAGCTTGGAGACATGGGAGGATACATATCCGCATTGCCAAA
ATGGACTCCTATGCTCGGATCTTCTTCCCCACTGCCTTCTGCCTGTTTAATCTGGTCTAT
TGGGTCTCCTACCTCTACCTGTGA
|
| Enzyme 11 GenBank Gene ID |
X15376  |
| Enzyme 11 GeneCard ID |
GABRG2  |
| Enzyme 11 GenAtlas ID |
GABRG2  |
| Enzyme 11 HGNC ID |
HGNC:4087  |
| Enzyme 11 Chromosome Location |
5 |
| Enzyme 11 Locus |
5q34 |
| Enzyme 11 SNPs |
SNPJam Report  |
| Enzyme 11 General References |
- Pritchett DB, Sontheimer H, Shivers BD, Ymer S, Kettenmann H, Schofield PR, Seeburg PH: Importance of a novel GABAA receptor subunit for benzodiazepine pharmacology. Nature. 1989 Apr 13;338(6216):582-5. [PubMed
]
- Jiang S, Yu J, Wang J, Tan Z, Xue H, Feng G, He L, Yang H: Complete genomic sequence of 195 Kb of human DNA containing the gene GABRG2. DNA Seq. 2000;11(5):373-82. [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
]
- Khan ZU, Fernando LP, Escriba P, Busquets X, Mallet J, Miralles CP, Filla M, De Blas AL: Antibodies to the human gamma 2 subunit of the gamma-aminobutyric acidA/benzodiazepine receptor. J Neurochem. 1993 Mar;60(3):961-71. [PubMed
]
- Wang H, Bedford FK, Brandon NJ, Moss SJ, Olsen RW: GABA(A)-receptor-associated protein links GABA(A) receptors and the cytoskeleton. Nature. 1999 Jan 7;397(6714):69-72. [PubMed
]
- Baulac S, Huberfeld G, Gourfinkel-An I, Mitropoulou G, Beranger A, Prud'homme JF, Baulac M, Brice A, Bruzzone R, LeGuern E: First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Nat Genet. 2001 May;28(1):46-8. [PubMed
]
- Wallace RH, Marini C, Petrou S, Harkin LA, Bowser DN, Panchal RG, Williams DA, Sutherland GR, Mulley JC, Scheffer IE, Berkovic SF: Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet. 2001 May;28(1):49-52. [PubMed
]
- Audenaert D, Schwartz E, Claeys KG, Claes L, Deprez L, Suls A, Van Dyck T, Lagae L, Van Broeckhoven C, Macdonald RL, De Jonghe P: A novel GABRG2 mutation associated with febrile seizures. Neurology. 2006 Aug 22;67(4):687-90. [PubMed
]
|
| Enzyme 11 Metabolite References |
Not Available |
|
Enzyme 12
[top]
|
| Enzyme 12 ID |
7818 |
| Enzyme 12 Name |
Gamma-aminobutyric acid type B receptor subunit 1 |
| Enzyme 12 Synonyms |
- GABA-B receptor 1
- GABA-B-R1
- GABA-BR1
- GABABR1
- Gb1
|
| Enzyme 12 Gene Name |
GABBR1 |
| Enzyme 12 Protein Sequence |
>Gamma-aminobutyric acid type B receptor subunit 1
MLLLLLLAPLFLRPPGAGGAQTPNATSEGCQIIHPPWEGGIRYRGLTRDQVKAINFLPVD
YEIEYVCRGEREVVGPKVRKCLANGSWTDMDTPSRCVRICSKSYLTLENGKVFLTGGDLP
ALDGARVDFRCDPDFHLVGSSRSICSQGQWSTPKPHCQVNRTPHSERRAVYIGALFPMSG
GWPGGQACQPAVEMALEDVNSRRDILPDYELKLIHHDSKCDPGQATKYLYELLYNDPIKI
ILMPGCSSVSTLVAEAARMWNLIVLSYGSSSPALSNRQRFPTFFRTHPSATLHNPTRVKL
FEKWGWKKIATIQQTTEVFTSTLDDLEERVKEAGIEITFRQSFFSDPAVPVKNLKRQDAR
IIVGLFYETEARKVFCEVYKERLFGKKYVWFLIGWYADNWFKIYDPSINCTVDEMTEAVE
GHITTEIVMLNPANTRSISNMTSQEFVEKLTKRLKRHPEETGGFQEAPLAYDAIWALALA
LNKTSGGGGRSGVRLEDFNYNNQTITDQIYRAMNSSSFEGVSGHVVFDASGSRMAWTLIE
QLQGGSYKKIGYYDSTKDDLSWSKTDKWIGGSPPADQTLVIKTFRFLSQKLFISVSVLSS
LGIVLAVVCLSFNIYNSHVRYIQNSQPNLNNLTAVGCSLALAAVFPLGLDGYHIGRNQFP
FVCQARLWLLGLGFSLGYGSMFTKIWWVHTVFTKKEEKKEWRKTLEPWKLYATVGLLVGM
DVLTLAIWQIVDPLHRTIETFAKEEPKEDIDVSILPQLEHCSSRKMNTWLGIFYGYKGLL
LLLGIFLAYETKSVSTEKINDHRAVGMAIYNVAVLCLITAPVTMILSSQQDAAFAFASLA
IVFSSYITLVVLFVPKMRRLITRGEWQSEAQDTMKTGSSTNNNEEEKSRLLEKENRELEK
IIAEKEERVSELRHQLQSRQQLRSRRHPPTPPEPSGGLPRGPPEPPDRLSCDGSRVHLLY
K
|
| Enzyme 12 Number of Residues |
961 |
| Enzyme 12 Molecular Weight |
108319.4 |
| Enzyme 12 Theoretical pI |
8.30 |
| Enzyme 12 GO Classification |
| Function |
- G-protein coupled receptor activity
- GABA-B receptor activity
- glutamate receptor activity
- molecular transducer activity
- receptor activity
- signal transducer activity
- transmembrane receptor activity
|
| Process |
- G-protein coupled receptor protein signaling pathway
- cell surface receptor linked signaling pathway
- signaling
- signaling pathway
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane part
|
|
| Enzyme 12 General Function |
Involved in G-protein coupled receptor activity |
| Enzyme 12 Specific Function |
Isoform 1E function may be to regulate the availability of functional GABA-B-R1A/GABA-B-R2 heterodimers by competing for GABA-B-R2 dimerization. This could explain the observation that certain small molecule ligands exhibit differential affinity for central versus peripheral sites |
| Enzyme 12 Pathways |
Not Available |
| Enzyme 12 Reactions |
Not Available |
| Enzyme 12 Pfam Domain Function |
|
| Enzyme 12 Signals |
|
| Enzyme 12 Transmembrane Regions |
- 592-612
632-652
668-688
711-731
769-789
805-825
834-854
|
| Enzyme 12 Essentiality |
Not Available |
| Enzyme 12 GenBank ID Protein |
3892594  |
| Enzyme 12 UniProtKB/Swiss-Prot ID |
Q9UBS5  |
| Enzyme 12 UniProtKB/Swiss-Prot Entry Name |
GABR1_HUMAN  |
| Enzyme 12 PDB ID |
1SS2  |
| Enzyme 12 PDB File |
Show |
| Enzyme 12 3D Structure |
|
| Enzyme 12 Cellular Location |
Not Available |
| Enzyme 12 Gene Sequence |
>2886 bp
ATGTTGCTGCTGCTGTTACTGGCGCCACTCTTCCTCCGCCCCCCGGGCGCGGGCGGGGCG
CAGACCCCCAACGCCACCTCAGAAGGTTGCCAGATCATACACCCGCCCTGGGAAGGGGGC
ATCAGGTACCGGGGCCTGACTCGGGACCAGGTGAAGGCTATCAACTTCCTGCCAGTGGAC
TATGAGATTGAGTATGTGTGCCGGGGGGAGCGCGAGGTGGTGGGGCCCAAGGTCCGCAAG
TGCCTGGCCAACGGCTCCTGGACAGATATGGACACACCCAGCCGCTGTGTCCGAATCTGC
TCCAAGTCTTATTTGACCCTGGAAAATGGGAAGGTTTTCCTGACGGGTGGGGACCTCCCA
GCTCTGGACGGAGCCCGGGTGGATTTCCGGTGTGACCCCGACTTCCATCTGGTGGGCAGC
TCCCGGAGCATCTGTAGTCAGGGCCAGTGGAGCACCCCCAAGCCCCACTGCCAGGTGAAT
CGAACGCCACACTCAGAACGGCGCGCAGTGTACATCGGGGCACTGTTTCCCATGAGCGGG
GGCTGGCCAGGGGGCCAGGCCTGCCAGCCCGCGGTGGAGATGGCGCTGGAGGACGTGAAT
AGCCGCAGGGACATCCTGCCGGACTATGAGCTCAAGCTCATCCACCACGACAGCAAGTGT
GATCCAGGCCAAGCCACCAAGTACCTATATGAGCTGCTCTACAACGACCCTATCAAGATC
ATCCTTATGCCTGGCTGCAGCTCTGTCTCCACGCTGGTGGCTGAGGCTGCTAGGATGTGG
AACCTCATTGTGCTTTCCTATGGCTCCAGCTCACCAGCCCTGTCAAACCGGCAGCGTTTC
CCCACTTTCTTCCGAACGCACCCATCAGCCACACTCCACAACCCTACCCGCGTGAAACTC
TTTGAAAAGTGGGGCTGGAAGAAGATTGCTACCATCCAGCAGACCACTGAGGTCTTCACT
TCGACTCTGGACGACCTGGAGGAACGAGTGAAGGAGGCTGGAATTGAGATTACTTTCCGC
CAGAGTTTCTTCTCAGATCCAGCTGTGCCCGTCAAAAACCTGAAGCGCCAGGATGCCCGA
ATCATCGTGGGACTTTTCTATGAGACTGAAGCCCGGAAAGTTTTTTGTGAGGTGTACAAG
GAGCGTCTCTTTGGGAAGAAGTACGTCTGGTTCCTCATTGGGTGGTATGCTGACAATTGG
TTCAAGATCTACGACCCTTCTATCAACTGCACAGTGGATGAGATGACTGAGGCGGTGGAG
GGCCACATCACAACTGAGATTGTCATGCTGAATCCTGCCAATACCCGCAGCATTTCCAAC
ATGACATCCCAGGAATTTGTGGAGAAACTAACCAAGCGACTGAAAAGACACCCTGAGGAG
ACAGGAGGCTTCCAGGAGGCACCGCTGGCCTATGATGCCATCTGGGCCTTGGCACTGGCC
CTGAACAAGACATCTGGAGGAGGCGGCCGTTCTGGTGTGCGCCTGGAGGACTTCAACTAC
AACAACCAGACCATTACCGACCAAATCTACCGGGCAATGAACTCTTCGTCCTTTGAGGGT
GTCTCTGGCCATGTGGTGTTTGATGCCAGCGGCTCTCGGATGGCATGGACGCTTATCGAG
CAGCTTCAGGGTGGCAGCTACAAGAAGATTGGCTACTATGACAGCACCAAGGATGATCTT
TCCTGGTCCAAAACAGATAAATGGATTGGAGGGTCCCCCCCAGCTGACCAGACCCTGGTC
ATCAAGACATTCCGCTTCCTGTCACAGAAACTCTTTATCTCCGTCTCAGTTCTCTCCAGC
CTGGGCATTGTCCTAGCTGTTGTCTGTCTGTCCTTTAACATCTACAACTCACATGTCCGT
TATATCCAGAACTCACAGCCCAACCTGAACAACCTGACTGCTGTGGGCTGCTCACTGGCT
TTAGCTGCTGTCTTCCCCCTGGGGCTCGATGGTTACCACATTGGGAGGAACCAGTTTCCT
TTCGTCTGCCAGGCCCGCCTCTGGCTCCTGGGCCTGGGCTTTAGTCTGGGCTACGGTTCC
ATGTTCACCAAGATTTGGTGGGTCCACACGGTCTTCACAAAGAAGGAAGAAAAGAAGGAG
TGGAGGAAGACTCTGGAACCCTGGAAGCTGTATGCCACAGTGGGCCTGCTGGTGGGCATG
GATGTCCTCACTCTCGCCATCTGGCAGATCGTGGACCCTCTGCACCGGACCATTGAGACA
TTTGCCAAGGAGGAACCTAAGGAAGATATTGACGTCTCTATTCTGCCCCAGCTGGAGCAT
TGCAGCTCCAGGAAGATGAATACATGGCTTGGCATTTTCTATGGTTACAAGGGGCTGCTG
CTGCTGCTGGGAATCTTCCTTGCTTATGAGACCAAGAGTGTGTCCACTGAGAAGATCAAT
GATCACCGGGCTGTGGGCATGGCTATCTACAATGTGGCAGTCCTGTGCCTCATCACTGCT
CCTGTCACCATGATTCTGTCCAGCCAGCAGGATGCAGCCTTTGCCTTTGCCTCTCTTGCC
ATAGTTTTCTCCTCCTATATCACTCTTGTTGTGCTCTTTGTGCCCAAGATGCGCAGGCTG
ATCACCCGAGGGGAATGGCAGTCGGAGGCGCAGGACACCATGAAGACAGGGTCATCGACC
AACAACAACGAGGAGGAGAAGTCCCGGCTGTTGGAGAAGGAGAACCGTGAACTGGAAAAG
ATCATTGCTGAGAAAGAGGAGCGTGTCTCTGAACTGCGCCATCAACTCCAGTCTCGGCAG
CAGCTCCGCTCCCGGCGCCACCCACCGACACCCCCAGAACCCTCTGGGGGCCTGCCCAGG
GGACCCCCTGAGCCCCCCGACCGGCTTAGCTGTGATGGGAGTCGAGTGCATTTGCTTTAT
AAGTGA
|
| Enzyme 12 GenBank Gene ID |
AJ225028  |
| Enzyme 12 GeneCard ID |
GABBR1  |
| Enzyme 12 GenAtlas ID |
GABBR1  |
| Enzyme 12 HGNC ID |
HGNC:4070  |
| Enzyme 12 Chromosome Location |
6 |
| Enzyme 12 Locus |
6p21.31 |
| Enzyme 12 SNPs |
SNPJam Report  |
| Enzyme 12 General References |
- Kaupmann K, Schuler V, Mosbacher J, Bischoff S, Bittiger H, Heid J, Froestl W, Leonhard S, Pfaff T, Karschin A, Bettler B: Human gamma-aminobutyric acid type B receptors are differentially expressed and regulate inwardly rectifying K+ channels. Proc Natl Acad Sci U S A. 1998 Dec 8;95(25):14991-6. [PubMed
]
- White JH, Wise A, Main MJ, Green A, Fraser NJ, Disney GH, Barnes AA, Emson P, Foord SM, Marshall FH: Heterodimerization is required for the formation of a functional GABA(B) receptor. Nature. 1998 Dec 17;396(6712):679-82. [PubMed
]
- Grifa A, Totaro A, Rommens JM, Carella M, Roetto A, Borgato L, Zelante L, Gasparini P: GABA (gamma-amino-butyric acid) neurotransmission: identification and fine mapping of the human GABAB receptor gene. Biochem Biophys Res Commun. 1998 Sep 18;250(2):240-5. [PubMed
]
- Goei VL, Choi J, Ahn J, Bowlus CL, Raha-Chowdhury R, Gruen JR: Human gamma-aminobutyric acid B receptor gene: complementary DNA cloning, expression, chromosomal location, and genomic organization. Biol Psychiatry. 1998 Oct 15;44(8):659-66. [PubMed
]
- Peters HC, Kammer G, Volz A, Kaupmann K, Ziegler A, Bettler B, Epplen JT, Sander T, Riess O: Mapping, genomic structure, and polymorphisms of the human GABABR1 receptor gene: evaluation of its involvement in idiopathic generalized epilepsy. Neurogenetics. 1998 Dec;2(1):47-54. [PubMed
]
- Makoff A: Molecular cloning of human GABABR1 and its tissue distribution. Brain Res Mol Brain Res. 1999 Jan 22;64(1):137-40. [PubMed
]
- Schwarz DA, Barry G, Eliasof SD, Petroski RE, Conlon PJ, Maki RA: Characterization of gamma-aminobutyric acid receptor GABAB(1e), a GABAB(1) splice variant encoding a truncated receptor. J Biol Chem. 2000 Oct 13;275(41):32174-81. [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
]
- Hillman RT, Green RE, Brenner SE: An unappreciated role for RNA surveillance. Genome Biol. 2004;5(2):R8. Epub 2004 Feb 2. [PubMed
]
- Sullivan R, Chateauneuf A, Coulombe N, Kolakowski LF Jr, Johnson MP, Hebert TE, Ethier N, Belley M, Metters K, Abramovitz M, O'Neill GP, Ng GY: Coexpression of full-length gamma-aminobutyric acid(B) (GABA(B)) receptors with truncated receptors and metabotropic glutamate receptor 4 supports the GABA(B) heterodimer as the functional receptor. J Pharmacol Exp Ther. 2000 May;293(2):460-7. [PubMed
]
- Kuner R, Kohr G, Grunewald S, Eisenhardt G, Bach A, Kornau HC: Role of heteromer formation in GABAB receptor function. Science. 1999 Jan 1;283(5398):74-7. [PubMed
]
- Couve A, Restituito S, Brandon JM, Charles KJ, Bawagan H, Freeman KB, Pangalos MN, Calver AR, Moss SJ: Marlin-1, a novel RNA-binding protein associates with GABA receptors. J Biol Chem. 2004 Apr 2;279(14):13934-43. Epub 2004 Jan 12. [PubMed
]
- Sander T, Peters C, Kammer G, Samochowiec J, Zirra M, Mischke D, Ziegler A, Kaupmann K, Bettler B, Epplen JT, Riess O: Association analysis of exonic variants of the gene encoding the GABAB receptor and idiopathic generalized epilepsy. Am J Med Genet. 1999 Aug 20;88(4):305-10. [PubMed
]
|
| Enzyme 12 Metabolite References |
Not Available |
|
Enzyme 13
[top]
|
| Enzyme 13 ID |
7966 |
| Enzyme 13 Name |
Hypothetical protein GAD1 |
| Enzyme 13 Synonyms |
Not Available |
| Enzyme 13 Gene Name |
GAD1 |
| Enzyme 13 Protein Sequence |
>Hypothetical protein GAD1
MASSTPSSSATSSNAGADPNTTNLRPTTYDTWCGVAHGCTRKLGLKICGFLQRTNSLEEK
SRLVSAFKERQSSKNLLSCENSDRDARFRRTETDFSNLFARDLLPAKNGEEQTVQFLLEV
VDILLNYVRKTFDRSTKVLDFHHPHQLLEGMEGFNLELSDHPESLEQILVDCRDTLKYGV
RTGHPRFFNQLSTGLDIIGLAGEWLTSTANTNMFTYEIAPVFVLMEQITLKKMREIVGWS
SKDGDGIFSPGGAISNMYSIMAARYKYFPEVKTKGMAAVPKLVLFTSEQSHYSIKKAGAA
LGFGTDNVILIKCNERGKIIPADFEAKILEAKQKGYVPFYVNATAGTTVYGAFDPIQEIA
DICEKYNLWLHVDAAWGGGLLMSRKHRHKLNGIERANSVTWNPHKMMGVLLQCSAILVKE
KGILQGCNQMCAGYLFQPDKQYDVSYDTGDKAIQCGRHVDIFKFWLMWKAKGTVGFENQI
NKCLELAEYLYAKIKNREEFEMVFNGEPEHTNVCFWYIPQSLRGVPDSPQRREKLHKVAP
KIKALMMESGTTMVGYQPQGDKANFFRMVISNPAATQSDIDFLIEEIERLGQDL
|
| Enzyme 13 Number of Residues |
594 |
| Enzyme 13 Molecular Weight |
66897 |
| Enzyme 13 Theoretical pI |
7.67 |
| Enzyme 13 GO Classification |
| Function |
- carbon-carbon lyase activity
- carboxy-lyase activity
- catalytic activity
- lyase activity
|
| Process |
- amino acid and derivative metabolism
- amino acid metabolism
- cellular metabolism
- metabolism
- physiological process
|
| Component |
| — |
|
| Enzyme 13 General Function |
Amino acid transport and metabolism |
| Enzyme 13 Specific Function |
Not Available |
| 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 |
62988850  |
| Enzyme 13 UniProtKB/Swiss-Prot ID |
Q53TQ7  |
| Enzyme 13 UniProtKB/Swiss-Prot Entry Name |
Q53TQ7_HUMAN  |
| Enzyme 13 PDB ID |
Not Available |
| Enzyme 13 Cellular Location |
Not Available |
| Enzyme 13 Gene Sequence |
>1785 bp
ATGGCGTCTTCGACCCCATCTTCGTCCGCAACCTCCTCGAACGCGGGAGCGGACCCCAAT
ACCACTAACCTGCGCCCCACAACGTACGATACCTGGTGCGGCGTGGCCCATGGATGCACC
AGAAAACTGGGGCTCAAGATCTGCGGCTTCTTGCAAAGGACCAACAGCCTGGAAGAGAAG
AGTCGCCTTGTGAGTGCCTTCAAGGAGAGGCAATCCTCCAAGAACCTGCTTTCCTGTGAA
AACAGCGACCGGGATGCCCGCTTCCGGCGCACAGAGACTGACTTCTCTAATCTGTTTGCT
AGAGATCTGCTTCCGGCTAAGAACGGTGAGGAGCAAACCGTGCAATTCCTCCTGGAAGTG
GTGGACATACTCCTCAACTATGTCCGCAAGACATTTGATCGCTCCACCAAGGTGCTGGAC
TTTCATCACCCACACCAGTTGCTGGAAGGCATGGAGGGCTTCAACTTGGAGCTCTCTGAC
CACCCCGAGTCCCTGGAGCAGATCCTGGTTGACTGCAGAGACACCTTGAAGTATGGGGTT
CGCACAGGTCATCCTCGATTTTTCAACCAGCTCTCCACTGGATTGGATATTATTGGCCTA
GCTGGAGAATGGCTGACATCAACGGCCAATACCAACATGTTTACATATGAAATTGCACCA
GTGTTTGTCCTCATGGAACAAATAACACTTAAGAAGATGAGAGAGATAGTTGGATGGTCA
AGTAAAGATGGTGATGGGATATTTTCTCCTGGGGGCGCCATATCCAACATGTACAGCATC
ATGGCTGCTCGCTACAAGTACTTCCCGGAAGTTAAGACAAAGGGCATGGCGGCTGTGCCT
AAACTGGTCCTCTTCACCTCAGAACAGAGTCACTATTCCATAAAGAAAGCTGGGGCTGCA
CTTGGCTTTGGAACTGACAATGTGATTTTGATAAAGTGCAATGAAAGGGGGAAAATAATT
CCAGCTGATTTTGAGGCAAAAATTCTTGAAGCCAAACAGAAGGGATATGTTCCCTTTTAT
GTCAATGCAACTGCTGGCACGACTGTTTATGGAGCTTTTGATCCGATACAAGAGATTGCA
GATATATGTGAGAAATATAACCTTTGGTTGCATGTCGATGCTGCCTGGGGAGGTGGGCTG
CTCATGTCCAGGAAGCACCGCCATAAACTCAACGGCATAGAAAGGGCCAACTCAGTCACC
TGGAACCCTCACAAGATGATGGGCGTGCTGTTGCAGTGCTCTGCCATTCTCGTCAAGGAA
AAGGGTATACTCCAAGGATGCAACCAGATGTGTGCAGGATACCTCTTCCAGCCAGACAAG
CAGTATGATGTCTCCTACGACACCGGGGACAAGGCAATTCAGTGTGGCCGCCACGTGGAT
ATCTTCAAGTTCTGGCTGATGTGGAAAGCAAAGGGCACAGTGGGATTTGAAAACCAGATC
AACAAATGCCTGGAACTGGCTGAATACCTCTATGCCAAGATTAAAAACAGAGAAGAATTT
GAGATGGTTTTCAATGGCGAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAA
AGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTGGCTCCA
AAAATCAAAGCCCTGATGATGGAGTCAGGTACGACCATGGTTGGCTACCAGCCCCAAGGG
GACAAGGCCAACTTCTTCCGGATGGTCATCTCCAACCCAGCCGCTACCCAGTCTGACATT
GACTTCCTCATTGAGGAGATAGAAAGACTGGGCCAGGATCTGTAA
|
| Enzyme 13 GenBank Gene ID |
AC007405  |
| Enzyme 13 GeneCard ID |
GAD1  |
| Enzyme 13 GenAtlas ID |
GAD1  |
| Enzyme 13 HGNC ID |
HGNC:4092  |
| Enzyme 13 Chromosome Location |
2 |
| Enzyme 13 Locus |
2q31 |
| Enzyme 13 SNPs |
SNPJam Report  |
| Enzyme 13 General References |
Not Available |
| Enzyme 13 Metabolite References |
Not Available |
|
Enzyme 14
[top]
|
| Enzyme 14 ID |
12979 |
| Enzyme 14 Name |
cDNA FLJ75643, highly similar to Homo sapiens 4-aminobutyrate aminotransferase |
| Enzyme 14 Synonyms |
- ABAT, nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA
|
| Enzyme 14 Gene Name |
Not Available |
| Enzyme 14 Protein Sequence |
>cDNA FLJ75643, highly similar to Homo sapiens 4-aminobutyrate aminotransferase
MASMLLAQRLACSFQHSYRLLVPGSRHISQAAAKVDVEFDYDGPLMKTEVPGPRSQELMK
QLNIIQNAEAVHFFCNYEESRGNYLVDVDGNRMLDLYSQISSVPIGYSHPALLKLIQQPQ
NASMFVNRPALGILPPENFVEKLRQSLLSVAPKGMSQLITMACGSCSNENALKTIFMWYR
SKERGQRGFSQEELETCMINQAPGCPDYSILSFMGAFHGRTMGCLATTHSKAIHKIDIPS
FDWPIAPFPRLKYPLEEFVKENQQEEARCLEEVEDLIVKYRKKKKTVAGIIVEPIQSEGG
DNHASDDFFRKLRDIARKHGCAFLVDEVQTGGGCTGKFWAHEHWGLDDPADVMTFSKKMM
TGGFFHKEEFRPNAPYRIFNTWLGDPSKNLLLAEVINIIKREDLLNNAAHAGKALLTGLL
DLQARYPQFISRVRGRGTFCSFDTPDDSIRNKLILIARNKGVVLGGCGDKSIRFRPTLVF
RDHHAHLFLNIFSDILADFK
|
| Enzyme 14 Number of Residues |
500 |
| Enzyme 14 Molecular Weight |
56440 |
| Enzyme 14 Theoretical pI |
8.04 |
| Enzyme 14 GO Classification |
Not Available |
| Enzyme 14 General Function |
Amino acid transport and metabolism |
| Enzyme 14 Specific Function |
Not Available |
| Enzyme 14 Pathways |
Not Available |
| Enzyme 14 Reactions |
Not Available |
| Enzyme 14 Pfam Domain Function |
Not Available |
| Enzyme 14 Signals |
|
| Enzyme 14 Transmembrane Regions |
|
| Enzyme 14 Essentiality |
Not Available |
| Enzyme 14 GenBank ID Protein |
158254434  |
| Enzyme 14 UniProtKB/Swiss-Prot ID |
A8K386  |
| Enzyme 14 UniProtKB/Swiss-Prot Entry Name |
A8K386_HUMAN  |
| Enzyme 14 PDB ID |
1OHY  |
| Enzyme 14 PDB File |
Show |
| Enzyme 14 3D Structure |
|
| Enzyme 14 Cellular Location |
Not Available |
| Enzyme 14 Gene Sequence |
Not Available |
| Enzyme 14 GenBank Gene ID |
AK290501  |
| Enzyme 14 GeneCard ID |
A8K386  |
| Enzyme 14 GenAtlas ID |
Not Available |
| Enzyme 14 HGNC ID |
Not Available |
| Enzyme 14 Chromosome Location |
Not Available |
| Enzyme 14 Locus |
Not Available |
| Enzyme 14 SNPs |
Not Available |
| Enzyme 14 General References |
Not Available |
| Enzyme 14 Metabolite References |
Not Available |
|
Enzyme 15
[top]
|
| Enzyme 15 ID |
13041 |
| Enzyme 15 Name |
Probable glutamyl-tRNA synthetase, mitochondrial |
| Enzyme 15 Synonyms |
- Glutamate--tRNA ligase
- GluRS
|
| Enzyme 15 Gene Name |
EARS2 |
| Enzyme 15 Protein Sequence |
>Probable glutamyl-tRNA synthetase, mitochondrial
MAALLRRLLQRERPSAASGRPVGRREANLGTDAGVAVRVRFAPSPTGFLHLGGLRTALYN
YIFAKKYQGSFILRLEDTDQTRVVPGAAENIEDMLEWAGIPPDESPRRGGPAGPYQQSQR
LELYAQATEALLKTGAAYPCFCSPQRLELLKKEALRNHQTPRYDNRCRNMSQEQVAQKLA
KDPKPAIRFRLEQVVPAFQDLVYGWNRHEVASVEGDPVIMKSDGFPTYHLACVVDDHHMG
ISHVLRGSEWLVSTAKHLLLYQALGWQPPHFAHLPLLLNRDGSKLSKRQGDVFLEHFAAD
GFLPDSLLDIITNCGSGFAENQMGRTLPELITQFNLTQVTCHSALLDLEKLPEFNRLHLQ
RLVSNESQRRQLVGKLQVLVEEAFGCQLQNRDVLNPVYVERILLLRQGHICRLQDLVSPV
YSYLWTRPAVGRAQLDAISEKVDVIAKRVLGLLERSSMSLTQDMLNGELKKLSEGLEGTK
YSNVMKLLRMALSGQQQGPPVAEMMLALGPKEVRERIQKVVSS
|
| Enzyme 15 Number of Residues |
523 |
| Enzyme 15 Molecular Weight |
58688.1 |
| Enzyme 15 Theoretical pI |
8.98 |
| Enzyme 15 GO Classification |
| Function |
- ATP binding
- adenyl nucleotide binding
- adenyl ribonucleotide binding
- aminoacyl-tRNA ligase activity
- binding
- catalytic activity
- glutamate-tRNA ligase activity
- ligase activity
- ligase activity, forming aminoacyl-tRNA and related compounds
- ligase activity, forming carbon-oxygen bonds
- nucleoside binding
- nucleotide binding
- purine nucleoside binding
|
| Process |
- RNA metabolic process
- biosynthetic process
- cellular macromolecule biosynthetic process
- cellular macromolecule metabolic process
- glutamyl-tRNA aminoacylation
- macromolecule biosynthetic process
- macromolecule metabolic process
- metabolic process
- ncRNA metabolic process
- tRNA aminoacylation
- tRNA aminoacylation for protein translation
- tRNA metabolic process
- translation
|
| Component |
- cell part
- cytoplasm
- intracellular part
|
|
| Enzyme 15 General Function |
Involved in nucleotide binding |
| Enzyme 15 Specific Function |
Catalyzes the attachment of glutamate to tRNA(Glu) in a two-step reaction:glutamate is first activated by ATP to form Glu-AMP and then transferred to the acceptor end of tRNA(Glu) |
| Enzyme 15 Pathways |
|
| Enzyme 15 Reactions |
- ATP + L-glutamate + tRNAGlu = AMP + diphosphate + L-glutamyl-tRNAGlu [RN:R05578]
|
| Enzyme 15 Pfam Domain Function |
|
| Enzyme 15 Signals |
|
| Enzyme 15 Transmembrane Regions |
|
| Enzyme 15 Essentiality |
Not Available |
| Enzyme 15 GenBank ID Protein |
134288884  |
| Enzyme 15 UniProtKB/Swiss-Prot ID |
Q5JPH6  |
| Enzyme 15 UniProtKB/Swiss-Prot Entry Name |
SYEM_HUMAN  |
| Enzyme 15 PDB ID |
Not Available |
| Enzyme 15 Cellular Location |
Not Available |
| Enzyme 15 Gene Sequence |
>1572 bp
ATGGCGGCGCTCCTGAGGAGACTGCTGCAGCGCGAGAGGCCTTCGGCGGCCTCTGGCCGC
CCCGTAGGACGGCGCGAGGCCAACCTGGGCACTGATGCCGGGGTTGCGGTGCGAGTGCGG
TTCGCTCCCAGCCCCACAGGCTTCTTGCACCTGGGTGGCCTCCGCACTGCCTTGTACAAC
TACATCTTTGCTAAGAAGTACCAGGGGAGCTTCATCCTGAGGCTAGAGGACACAGATCAG
ACTCGCGTTGTGCCTGGGGCAGCGGAGAATATTGAGGACATGCTGGAGTGGGCAGGCATC
CCGCCTGATGAGAGCCCCCGCCGGGGCGGTCCTGCTGGGCCCTACCAGCAATCTCAGCGG
TTGGAGCTGTATGCCCAGGCCACAGAAGCGCTGCTGAAGACCGGAGCTGCTTACCCCTGT
TTCTGCTCACCCCAGCGGCTGGAGCTCCTGAAGAAGGAGGCCTTGCGGAACCACCAGACG
CCCCGGTATGACAATCGGTGCAGGAACATGAGCCAGGAGCAGGTGGCCCAGAAGCTGGCC
AAGGACCCCAAGCCTGCGATCCGCTTCCGCCTGGAGCAGGTGGTGCCAGCCTTCCAGGAC
CTGGTCTATGGCTGGAATAGGCATGAAGTGGCCAGCGTGGAGGGAGACCCAGTCATCATG
AAGAGCGACGGCTTCCCCACATACCACCTGGCCTGCGTGGTGGACGACCACCACATGGGC
ATCAGCCACGTGCTGCGAGGCTCTGAGTGGCTCGTCTCCACTGCCAAGCACCTGCTCCTC
TACCAGGCCCTGGGCTGGCAGCCACCCCACTTCGCCCACCTGCCCCTGCTCCTCAACAGG
GATGGCAGCAAGCTCTCCAAGAGGCAAGGGGACGTTTTCCTGGAGCACTTTGCTGCTGAT
GGCTTCCTGCCCGATTCCTTGTTGGACATCATCACCAACTGTGGCTCAGGTTTTGCAGAG
AACCAAATGGGCAGGACCCTGCCGGAGCTGATCACACAGTTCAACCTGACACAGGTCACC
TGTCACTCAGCCCTGCTGGACCTGGAGAAGCTCCCAGAATTCAACAGACTGCACCTCCAG
CGGCTGGTGAGCAATGAGAGCCAGAGGCGCCAGCTGGTGGGGAAGCTGCAGGTCCTTGTG
GAGGAGGCCTTTGGTTGCCAGCTGCAAAACAGGGATGTCCTCAACCCAGTCTACGTGGAG
AGGATCCTCCTGCTGAGACAGGGTCACATTTGCCGCCTGCAGGACTTGGTGTCCCCAGTA
TACTCTTACCTGTGGACTCGCCCTGCAGTAGGTCGAGCACAGCTGGACGCCATCTCGGAG
AAGGTGGATGTGATTGCCAAGCGTGTGCTGGGGCTTCTAGAAAGATCTAGTATGAGCTTA
ACTCAGGATATGCTGAATGGAGAACTGAAGAAGCTATCAGAAGGTCTGGAAGGCACCAAG
TACAGTAATGTGATGAAACTCCTTCGGATGGCCCTCAGTGGACAGCAGCAAGGACCTCCT
GTAGCTGAGATGATGTTGGCCTTGGGACCAAAGGAAGTACGGGAACGGATCCAGAAGGTG
GTTTCCAGCTAG
|
| Enzyme 15 GenBank Gene ID |
NM_001083614.1  |
| Enzyme 15 GeneCard ID |
EARS2  |
| Enzyme 15 GenAtlas ID |
EARS2  |
| Enzyme 15 HGNC ID |
HGNC:29419  |
| Enzyme 15 Chromosome Location |
1 |
| Enzyme 15 Locus |
16p12.2 |
| Enzyme 15 SNPs |
SNPJam Report  |
| Enzyme 15 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
]
- 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
]
- Nagase T, Kikuno R, Ohara O: Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. DNA Res. 2001 Dec 31;8(6):319-27. [PubMed
]
- Bonnefond L, Fender A, Rudinger-Thirion J, Giege R, Florentz C, Sissler M: Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS. Biochemistry. 2005 Mar 29;44(12):4805-16. [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 15 Metabolite References |
Not Available |
|
Enzyme 16
[top]
|
| Enzyme 16 ID |
13123 |
| Enzyme 16 Name |
cDNA, FLJ96771, Homo sapiens ornithine decarboxylase-like protein (ODC-p), mRNA (Arginine decarboxylase, isoform CRA_d) |
| Enzyme 16 Synonyms |
Not Available |
| Enzyme 16 Gene Name |
ADC |
| Enzyme 16 Protein Sequence |
>cDNA, FLJ96771, Homo sapiens ornithine decarboxylase-like protein (ODC-p)
MAGYLSESDFVMVEEGFSTRDLLKELTLGASQATTDEVAAFFVADLGAIVRKHFCFLKCL
PRVRPFYAVKCNSSPGVLKVLAQLGLGFSCANKAEMELVQHIGIPASKIICANPCKQIAQ
IKYAAKHGIQLLSFDNEMELAKVVKSHPSAKMVLCIATDDSHSLSCLSLKFGVSLKSCRH
LLENAKKHHVEVVGVSFHIGSGCPDPQAYAQSIADARLVFEMGTELGHKMHVLDLGGGFP
GTEGAKVRFEEIASVINSALDLYFPEGCGVDIFAELGRYYVTSAFTVAVSIIAKKEVLLD
QPGREEENGSTSKTIVYHLDEGVYGIFNSVLFDNICPTPILQKKPSTEQPLYSSSLWGPA
VDGCDCVAEGLWLPQLHVGDWLVFDNMGAYTVGMGSPFWGTQACHITYAMSRVAWEALRR
QLMAAEQEDDVEGVCKPLSCGWEITDTLCVGPVFTPASIM
|
| Enzyme 16 Number of Residues |
460 |
| Enzyme 16 Molecular Weight |
49980 |
| Enzyme 16 Theoretical pI |
Not Available |
| Enzyme 16 GO Classification |
Not Available |
| Enzyme 16 General Function |
Not Available |
| Enzyme 16 Specific Function |
Not Available |
| Enzyme 16 Pathways |
Not Available |
| Enzyme 16 Reactions |
Not Available |
| Enzyme 16 Pfam Domain Function |
Not Available |
| Enzyme 16 Signals |
|
| Enzyme 16 Transmembrane Regions |
|
| Enzyme 16 Essentiality |
Not Available |
| Enzyme 16 GenBank ID Protein |
Not Available |
| Enzyme 16 UniProtKB/Swiss-Prot ID |
B2RDU5  |
| Enzyme 16 UniProtKB/Swiss-Prot Entry Name |
B2RDU5_HUMAN  |
| Enzyme 16 PDB ID |
Not Available |
| Enzyme 16 Cellular Location |
Not Available |
| Enzyme 16 Gene Sequence |
Not Available |
| Enzyme 16 GenBank Gene ID |
Not Available |
| Enzyme 16 GeneCard ID |
B2RDU5  |
| Enzyme 16 GenAtlas ID |
Not Available |
| Enzyme 16 HGNC ID |
Not Available |
| Enzyme 16 Chromosome Location |
Not Available |
| Enzyme 16 Locus |
Not Available |
| Enzyme 16 SNPs |
SNPJam Report  |
| Enzyme 16 General References |
Not Available |
| Enzyme 16 Metabolite References |
Not Available |
|
Enzyme 17
[top]
|
| Enzyme 17 ID |
13416 |
| Enzyme 17 Name |
Gamma-aminobutyric acid type B receptor subunit 2 |
| Enzyme 17 Synonyms |
- GABA-B receptor 2
- GABA-B-R2
- GABA-BR2
- GABABR2
- Gb2
- G-protein coupled receptor 51
- HG20
|
| Enzyme 17 Gene Name |
GABBR2 |
| Enzyme 17 Protein Sequence |
>Gamma-aminobutyric acid type B receptor subunit 2
MASPRSSGQPGPPPPPPPPPARLLLLLLLPLLLPLAPGAWGWARGAPRPPPSSPPLSIMG
LMPLTKEVAKGSIGRGVLPAVELAIEQIRNESLLRPYFLDLRLYDTECDNAKGLKAFYDA
IKYGPNHLMVFGGVCPSVTSIIAESLQGWNLVQLSFAATTPVLADKKKYPYFFRTVPSDN
AVNPAILKLLKHYQWKRVGTLTQDVQRFSEVRNDLTGVLYGEDIEISDTESFSNDPCTSV
KKLKGNDVRIILGQFDQNMAAKVFCCAYEENMYGSKYQWIIPGWYEPSWWEQVHTEANSS
RCLRKNLLAAMEGYIGVDFEPLSSKQIKTISGKTPQQYEREYNNKRSGVGPSKFHGYAYD
GIWVIAKTLQRAMETLHASSRHQRIQDFNYTDHTLGRIILNAMNETNFFGVTGQVVFRNG
ERMGTIKFTQFQDSREVKVGEYNAVADTLEIINDTIRFQGSEPPKDKTIILEQLRKISLP
LYSILSALTILGMIMASAFLFFNIKNRNQKLIKMSSPYMNNLIILGGMLSYASIFLFGLD
GSFVSEKTFETLCTVRTWILTVGYTTAFGAMFAKTWRVHAIFKNVKMKKKIIKDQKLLVI
VGGMLLIDLCILICWQAVDPLRRTVEKYSMEPDPAGRDISIRPLLEHCENTHMTIWLGIV
YAYKGLLMLFGCFLAWETRNVSIPALNDSKYIGMSVYNVGIMCIIGAAVSFLTRDQPNVQ
FCIVALVIIFCSTITLCLVFVPKLITLRTNPDAATQNRRFQFTQNQKKEDSKTSTSVTSV
NQASTSRLEGLQSENHRLRMKITELDKDLEEVTMQLQDTPEKTTYIKQNHYQELNDILNL
GNFTESTDGGKAILKNHLDQNPQLQWNTTEPSRTCKDPIEDINSPEHIQRRLSLQLPILH
HAYLPSIGGVDASCVSPCVSPTASPRHRHVPPSFRVMVSGL
|
| Enzyme 17 Number of Residues |
941 |
| Enzyme 17 Molecular Weight |
105820.5 |
| Enzyme 17 Theoretical pI |
8.83 |
| Enzyme 17 GO Classification |
| Function |
- G-protein coupled receptor activity
- GABA-B receptor activity
- glutamate receptor activity
- molecular transducer activity
- receptor activity
- signal transducer activity
- transmembrane receptor activity
|
| Process |
- G-protein coupled receptor protein signaling pathway
- cell surface receptor linked signaling pathway
- signaling
- signaling pathway
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane part
|
|
| Enzyme 17 General Function |
Involved in G-protein coupled receptor activity |
| Enzyme 17 Specific Function |
Receptor for GABA. The activity of this receptor is mediated by G-proteins that inhibit adenylyl cyclase activity, stimulates phospholipase A2, activates potassium channels, inactivates voltage-dependent calcium-channels and modulates inositol phospholipids hydrolysis. Plays a critical role in the fine-tuning of inhibitory synaptic transmission. Pre-synaptic GABA-B-R inhibit neurotransmitter release by down-regulating high- voltage activated calcium channels, whereas postsynaptic GABA-B-R decrease neuronal excitability by activating a prominent inwardly rectifying potassium (Kir) conductance that underlies the late inhibitory postsynaptic potentials. Not only implicated in synaptic inhibition but also in hippocampal long-term potentiation, slow wave sleep, muscle relaxation and antinociception |
| Enzyme 17 Pathways |
Not Available |
| Enzyme 17 Reactions |
Not Available |
| Enzyme 17 Pfam Domain Function |
|
| Enzyme 17 Signals |
|
| Enzyme 17 Transmembrane Regions |
- 484-504
523-543
552-572
598-618
655-675
692-712
721-741
|
| Enzyme 17 Essentiality |
Not Available |
| Enzyme 17 GenBank ID Protein |
3776098  |
| Enzyme 17 UniProtKB/Swiss-Prot ID |
O75899  |
| Enzyme 17 UniProtKB/Swiss-Prot Entry Name |
GABR2_HUMAN  |
| Enzyme 17 PDB ID |
Not Available |
| Enzyme 17 Cellular Location |
Not Available |
| Enzyme 17 Gene Sequence |
>2826 bp
ATGGCTTCCCCGCGGAGCTCCGGGCAGCCCGGGCCGCCGCCGCCGCCGCCACCGCCGCCC
GCGCGCCTGCTACTGCTACTGCTGCTGCCGCTGCTGCTGCCTCTGGCGCCCGGGGCCTGG
GGCTGGGCGCGGGGCGCCCCCCGGCCGCCGCCCAGCAGCCCGCCGCTCTCCATCATGGGC
CTCATGCCGCTCACCAAGGAGGTGGCCAAGGGCAGCATCGGGCGCGGTGTGCTCCCCGCC
GTGGAACTGGCCATCGAGCAGATCCGCAACGAGTCACTCCTGCGCCCCTACTTCCTCGAC
CTGCGGCTCTATGACACGGAGTGCGACAACGCAAAAGGGTTGAAAGCCTTCTACGATGCA
ATAAAATACGGGCCTAACCACTTGATGGTGTTTGGAGGCGTCTGTCCATCCGTCACATCC
ATCATTGCAGAGTCCCTCCAAGGCTGGAATCTGGTGCAGCTTTCTTTTGCTGCAACCACG
CCTGTTCTAGCCGATAAGAAAAAATACCCTTATTTCTTTCGGACCGTCCCATCAGACAAT
GCGGTGAATCCAGCCATTCTGAAGTTGCTCAAGCACTACCAGTGGAAGCGCGTGGGCACG
CTGACGCAAGACGTTCAGAGGTTCTCTGAGGTGCGGAATGACCTGACTGGAGTTCTGTAT
GGCGAGGACATTGAGATTTCAGACACCGAGAGCTTCTCCAACGATCCCTGTACCAGTGTC
AAAAAGCTGAAGGGGAATGATGTGCGGATCATCCTTGGCCAGTTTGACCAGAATATGGCA
GCAAAAGTGTTCTGTTGTGCATACGAGGAGAACATGTATGGTAGTAAATATCAGTGGATC
ATTCCGGGCTGGTACGAGCCTTCTTGGTGGGAGCAGGTGCACACGGAAGCCAACTCATCC
CGCTGCCTCCGGAAGAATCTGCTTGCTGCCATGGAGGGCTACATTGGCGTGGATTTCGAG
CCCCTGAGCTCCAAGCAGATCAAGACCATCTCAGGAAAGACTCCACAGCAGTATGAGAGA
GAGTACAACAACAAGCGGTCAGGCGTGGGGCCCAGCAAGTTCCACGGGTACGCCTACGAT
GGCATCTGGGTCATCGCCAAGACACTGCAGAGGGCCATGGAGACACTGCATGCCAGCAGC
CGGCACCAGCGGATCCAGGACTTCAACTACACGGACCACACGCTGGGCAGGATCATCCTC
AATGCCATGAACGAGACCAACTTCTTCGGGGTCACGGGTCAAGTTGTATTCCGGAATGGG
GAGAGAATGGGGACCATTAAATTTACTCAATTTCAAGACAGCAGGGAGGTGAAGGTGGGA
GAGTACAACGCTGTGGCCGACACACTGGAGATCATCAATGACACCATCAGGTTCCAAGGA
TCCGAACCACCAAAAGACAAGACCATCATCCTGGAGCAGCTGCGGAAGATCTCCCTACCT
CTCTACAGCATCCTCTCTGCCCTCACCATCCTCGGGATGATCATGGCCAGTGCTTTTCTC
TTCTTCAACATCAAGAACCGGAATCAGAAGCTCATAAAGATGTCGAGTCCATACATGAAC
AACCTTATCATCCTTGGAGGGATGCTCTCCTATGCTTCCATATTTCTCTTTGGCCTTGAT
GGATCCTTTGTCTCTGAAAAGACCTTTGAAACACTTTGCACCGTCAGGACCTGGATTCTC
ACCGTGGGCTACACGACCGCTTTTGGGGCCATGTTTGCAAAGACCTGGAGAGTCCACGCC
ATCTTCAAAAATGTGAAAATGAAGAAGAAGATCATCAAGGACCAGAAACTGCTTGTGATC
GTGGGGGGCATGCTGCTGATCGACCTGTGTATCCTGATCTGCTGGCAGGCTGTGGACCCC
CTGCGAAGGACAGTGGAGAAGTACAGCATGGAGCCGGACCCAGCAGGACGGGATATCTCC
ATCCGCCCTCTCCTGGAGCACTGTGAGAACACCCATATGACCATCTGGCTTGGCATCGTC
TATGCCTACAAGGGACTTCTCATGTTGTTCGGTTGTTTCTTAGCTTGGGAGACCCGCAAC
GTCAGCATCCCCGCACTCAACGACAGCAAGTACATCGGGATGAGTGTCTACAACGTGGGG
ATCATGTGCATCATCGGGGCCGCTGTCTCCTTCCTGACCCGGGACCAGCCCAATGTGCAG
TTCTGCATCGTGGCTCTGGTCATCATCTTCTGCAGCACCATCACCCTCTGCCTGGTATTC
GTGCCGAAGCTCATCACCCTGAGAACAAACCCAGATGCAGCAACGCAGAACAGGCGATTC
CAGTTCACTCAGAATCAGAAGAAAGAAGATTCTAAAACGTCCACCTCGGTCACCAGTGTG
AACCAAGCCAGCACATCCCGCCTGGAGGGCCTACAGTCAGAAAACCATCGCCTGCGAATG
AAGATCACAGAGCTGGATAAAGACTTGGAAGAGGTCACCATGCAGCTGCAGGACACACCA
GAAAAGACCACCTACATTAAACAGAACCACTACCAAGAGCTCAATGACATCCTCAACCTG
GGAAACTTCACTGAGAGCACAGATGGAGGAAAGGCCATTTTAAAAAATCACCTCGATCAA
AATCCCCAGCTACAGTGGAACACAACAGAGCCCTCTCGAACATGCAAAGATCCTATAGAA
GATATAAACTCTCCAGAACACATCCAGCGTCGGCTGTCCCTCCAGCTCCCCATCCTCCAC
CACGCCTACCTCCCATCCATCGGAGGCGTGGACGCCAGCTGTGTCAGCCCCTGCGTCAGC
CCCACCGCCAGCCCCCGCCACAGACATGTGCCACCCTCCTTCCGAGTCATGGTCTCGGGC
CTGTAA
|
| Enzyme 17 GenBank Gene ID |
AJ012188  |
| Enzyme 17 GeneCard ID |
GABBR2  |
| Enzyme 17 GenAtlas ID |
GABBR2  |
| Enzyme 17 HGNC ID |
HGNC:4507  |
| Enzyme 17 Chromosome Location |
9 |
| Enzyme 17 Locus |
9q22.1-q22.3 |
| Enzyme 17 SNPs |
SNPJam Report  |
| Enzyme 17 General References |
- White JH, Wise A, Main MJ, Green A, Fraser NJ, Disney GH, Barnes AA, Emson P, Foord SM, Marshall FH: Heterodimerization is required for the formation of a functional GABA(B) receptor. Nature. 1998 Dec 17;396(6712):679-82. [PubMed
]
- Ng GY, McDonald T, Bonnert T, Rigby M, Heavens R, Whiting P, Chateauneuf A, Coulombe N, Kargman S, Caskey T, Evans J, O'neill GP, Liu Q: Cloning of a novel G-protein-coupled receptor GPR 51 resembling GABAB receptors expressed predominantly in nervous tissues and mapped proximal to the hereditary sensory neuropathy type 1 locus on chromosome 9. Genomics. 1999 Mar 15;56(3):288-95. [PubMed
]
- Martin SC, Russek SJ, Farb DH: Molecular identification of the human GABABR2: cell surface expression and coupling to adenylyl cyclase in the absence of GABABR1. Mol Cell Neurosci. 1999 Mar;13(3):180-91. [PubMed
]
- Clark JA, Mezey E, Lam AS, Bonner TI: Distribution of the GABA(B) receptor subunit gb2 in rat CNS. Brain Res. 2000 Mar 31;860(1-2):41-52. [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
]
- Ng GY, Clark J, Coulombe N, Ethier N, Hebert TE, Sullivan R, Kargman S, Chateauneuf A, Tsukamoto N, McDonald T, Whiting P, Mezey E, Johnson MP, Liu Q, Kolakowski LF Jr, Evans JF, Bonner TI, O'Neill GP: Identification of a GABAB receptor subunit, gb2, required for functional GABAB receptor activity. J Biol Chem. 1999 Mar 19;274(12):7607-10. [PubMed
]
- Sullivan R, Chateauneuf A, Coulombe N, Kolakowski LF Jr, Johnson MP, Hebert TE, Ethier N, Belley M, Metters K, Abramovitz M, O'Neill GP, Ng GY: Coexpression of full-length gamma-aminobutyric acid(B) (GABA(B)) receptors with truncated receptors and metabotropic glutamate receptor 4 supports the GABA(B) heterodimer as the functional receptor. J Pharmacol Exp Ther. 2000 May;293(2):460-7. [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 17 Metabolite References |
Not Available |
|
Enzyme 18
[top]
|
| Enzyme 18 ID |
13909 |
| Enzyme 18 Name |
Gamma-aminobutyric acid receptor subunit alpha-1 |
| Enzyme 18 Synonyms |
- GABA(A) receptor subunit alpha-1
|
| Enzyme 18 Gene Name |
GABRA1 |
| Enzyme 18 Protein Sequence |
>Gamma-aminobutyric acid receptor subunit alpha-1
MRKSPGLSDCLWAWILLLSTLTGRSYGQPSLQDELKDNTTVFTRILDRLLDGYDNRLRPG
LGERVTEVKTDIFVTSFGPVSDHDMEYTIDVFFRQSWKDERLKFKGPMTVLRLNNLMASK
IWTPDTFFHNGKKSVAHNMTMPNKLLRITEDGTLLYTMRLTVRAECPMHLEDFPMDAHAC
PLKFGSYAYTRAEVVYEWTREPARSVVVAEDGSRLNQYDLLGQTVDSGIVQSSTGEYVVM
TTHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTMTTLSISA
RNSLPKVAYATAMDWFIAVCYAFVFSALIEFATVNYFTKRGYAWDGKSVVPEKPKKVKDP
LIKKNNTYAPTATSYTPNLARGDPGLATIAKSATIEPKEVKPETKPPEPKKTFNSVSKID
RLSRIAFPLLFGIFNLVYWATYLNREPQLKAPTPHQ
|
| Enzyme 18 Number of Residues |
456 |
| Enzyme 18 Molecular Weight |
51801.4 |
| Enzyme 18 Theoretical pI |
9.61 |
| Enzyme 18 GO Classification |
| Function |
- GABA receptor activity
- GABA-A receptor activity
- extracellular ligand-gated ion channel activity
- ion channel activity
- ion transmembrane transporter activity
- ligand-gated ion channel activity
- molecular transducer activity
- receptor activity
- signal transducer activity
- substrate-specific transmembrane transporter activity
- transmembrane receptor activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- G-protein coupled receptor protein signaling pathway
- anion transport
- cell surface receptor linked signaling pathway
- chloride transport
- establishment of localization
- gamma-aminobutyric acid signaling pathway
- inorganic anion transport
- ion transport
- signaling
- signaling pathway
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
- postsynaptic membrane
|
|
| Enzyme 18 General Function |
Involved in ion transport |
| Enzyme 18 Specific Function |
GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel |
| Enzyme 18 Pathways |
Not Available |
| Enzyme 18 Reactions |
Not Available |
| Enzyme 18 Pfam Domain Function |
|
| Enzyme 18 Signals |
|
| Enzyme 18 Transmembrane Regions |
- 252-273
279-300
313-334
422-443
|
| Enzyme 18 Essentiality |
Not Available |
| Enzyme 18 GenBank ID Protein |
31633  |
| Enzyme 18 UniProtKB/Swiss-Prot ID |
P14867  |
| Enzyme 18 UniProtKB/Swiss-Prot Entry Name |
GBRA1_HUMAN  |
| Enzyme 18 PDB ID |
Not Available |
| Enzyme 18 Cellular Location |
Not Available |
| Enzyme 18 Gene Sequence |
>1371 bp
ATGAGGAAAAGTCCAGGTCTGTCTGACTGTCTTTGGGCCTGGATCCTCCTTCTGAGCACA
CTGACTGGAAGAAGCTATGGACAGCCGTCATTACAAGATGAACTTAAAGACAATACCACT
GTCTTCACCAGGATTTTGGACAGACTCCTAGATGGCTATGACAATCGCCTGAGACCAGGA
TTGGGAGAGCGTGTAACCGAAGTGAAGACTGATATCTTCGTCACCAGTTTCGGACCCGTT
TCAGACCATGATATGGAATATACAATAGATGTATTTTTCCGTCAAAGCTGGAAGGATGAA
AGGTTAAAATTTAAAGGACCTATGACAGTCCTCCGGTTAAATAACCTAATGGCAAGTAAA
ATCCGGACTCCGGACACATTTTTCCACAATGGAAAGAAGTCAGTGGCCCACAACATGACC
ATGCCCAACAAACTCCTGCGGATCACAGAGGATGGCACCTTGCTGTACACCATGAGGCTG
ACAGTGAGAGCTGAATGTCCGATGCATTTGGAGGACTTCCCTATGGATGCCCATGCTTGC
CCACTAAAATTTGGAAGTTATGCTTATACAAGAGCAGAAGTTGTTTATGAATGGACCAGA
GAGCCAGCACGCTCAGTGGTTGTAGCAGAAGATGGATCACGTCTAAACCAGTATGACCTT
CTTGGACAAACAGTAGACTCTGGAATTGTCCAGTCAAGTACAGGAGAATATGTTGTTATG
ACCACTCATTTCCACTTGAAGAGAAAGATTGGCTACTTTGTTATTCAAACATACCTGCCA
TGCATAATGACAGTGATTCTCTCACAAGTCTCCTTCTGGCTCAACAGAGAGTCTGTACCA
GCAAGAACTGTCTTTGGAGTAACAACTGTGCTCACCATGACAACATTGAGCATCAGTGCC
AGAAACTCCCTCCCTAAGGTGGCTTATGCAACAGCTATGGATTGGTTTATTGCCGTGTGC
TATGCCTTTGTGTTCTCAGCTCTGATTGAGTTTGCCACAGTAAACTATTTCACTAAGAGA
GGTTATGCATGGGATGGCAAAAGTGTGGTTCCAGAAAAGCCAAAGAAAGTAAAGGATCCT
CTTATTAAGAAAAACAACACTTACGCTCCAACAGCAACCAGCTACACCCCTAATTTGGCC
AGGGGCGACCCGGGCTTAGCCACCATTGCTAAAAGTGCAACCATAGAACCTAAAGAGGTC
AAGCCCGAAACAAAACCACCAGAACCCAAGAAAACCTTTAACAGTGTCAGCAAAATTGAC
CGACTGTCAAGAATAGCCTTCCCGCTGCTATTTGGAATCTTTAACTTAGTCTACTGGGCT
ACGTATTTAAACAGAGAGCCTCAGCTAAAAGCCCCCACACCACATCAATAG
|
| Enzyme 18 GenBank Gene ID |
X14766  |
| Enzyme 18 GeneCard ID |
GABRA1  |
| Enzyme 18 GenAtlas ID |
GABRA1  |
| Enzyme 18 HGNC ID |
HGNC:4075  |
| Enzyme 18 Chromosome Location |
5 |
| Enzyme 18 Locus |
5q34-q35 |
| Enzyme 18 SNPs |
SNPJam Report  |
| Enzyme 18 General References |
- Schofield PR, Pritchett DB, Sontheimer H, Kettenmann H, Seeburg PH: Sequence and expression of human GABAA receptor alpha 1 and beta 1 subunits. FEBS Lett. 1989 Feb 27;244(2):361-4. [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
]
- Garrett KM, Duman RS, Saito N, Blume AJ, Vitek MP, Tallman JF: Isolation of a cDNA clone for the alpha subunit of the human GABA-A receptor. Biochem Biophys Res Commun. 1988 Oct 31;156(2):1039-45. [PubMed
]
- Cossette P, Liu L, Brisebois K, Dong H, Lortie A, Vanasse M, Saint-Hilaire JM, Carmant L, Verner A, Lu WY, Wang YT, Rouleau GA: Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet. 2002 Jun;31(2):184-9. Epub 2002 May 6. [PubMed
]
- Maljevic S, Krampfl K, Cobilanschi J, Tilgen N, Beyer S, Weber YG, Schlesinger F, Ursu D, Melzer W, Cossette P, Bufler J, Lerche H, Heils A: A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. Ann Neurol. 2006 Jun;59(6):983-7. [PubMed
]
|
| Enzyme 18 Metabolite References |
Not Available |
|
Enzyme 19
[top]
|
| Enzyme 19 ID |
13910 |
| Enzyme 19 Name |
Gamma-aminobutyric acid receptor subunit alpha-2 |
| Enzyme 19 Synonyms |
- GABA(A) receptor subunit alpha-2
|
| Enzyme 19 Gene Name |
GABRA2 |
| Enzyme 19 Protein Sequence |
>Gamma-aminobutyric acid receptor subunit alpha-2
MKTKLNIYNMQFLLFVFLVWDPARLVLANIQEDEAKNNITIFTRILDRLLDGYDNRLRPG
LGDSITEVFTNIYVTSFGPVSDTDMEYTIDVFFRQKWKDERLKFKGPMNILRLNNLMASK
IWTPDTFFHNGKKSVAHNMTMPNKLLRIQDDGTLLYTMRLTVQAECPMHLEDFPMDAHSC
PLKFGSYAYTTSEVTYIWTYNASDSVQVAPDGSRLNQYDLLGQSIGKETIKSSTGEYTVM
TAHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTMTTLSISA
RNSLPKVAYATAMDWFIAVCYAFVFSALIEFATVNYFTKRGWAWDGKSVVNDKKKEKASV
MIQNNAYAVAVANYAPNLSKDPVLSTISKSATTPEPNKKPENKPAEAKKTFNSVSKIDRM
SRIVFPVLFGTFNLVYWATYLNREPVLGVSP
|
| Enzyme 19 Number of Residues |
451 |
| Enzyme 19 Molecular Weight |
51325.9 |
| Enzyme 19 Theoretical pI |
9.50 |
| Enzyme 19 GO Classification |
| Function |
- GABA receptor activity
- GABA-A receptor activity
- extracellular ligand-gated ion channel activity
- ion channel activity
- ion transmembrane transporter activity
- ligand-gated ion channel activity
- molecular transducer activity
- receptor activity
- signal transducer activity
- substrate-specific transmembrane transporter activity
- transmembrane receptor activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- G-protein coupled receptor protein signaling pathway
- anion transport
- cell surface receptor linked signaling pathway
- chloride transport
- establishment of localization
- gamma-aminobutyric acid signaling pathway
- inorganic anion transport
- ion transport
- signaling
- signaling pathway
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
- postsynaptic membrane
|
|
| Enzyme 19 General Function |
Involved in ion transport |
| Enzyme 19 Specific Function |
GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel |
| Enzyme 19 Pathways |
Not Available |
| Enzyme 19 Reactions |
Not Available |
| Enzyme 19 Pfam Domain Function |
|
| Enzyme 19 Signals |
|
| Enzyme 19 Transmembrane Regions |
- 252-273
279-300
313-334
420-441
|
| Enzyme 19 Essentiality |
Not Available |
| Enzyme 19 GenBank ID Protein |
167000751  |
| Enzyme 19 UniProtKB/Swiss-Prot ID |
P47869  |
| Enzyme 19 UniProtKB/Swiss-Prot Entry Name |
GBRA2_HUMAN  |
| Enzyme 19 PDB ID |
Not Available |
| Enzyme 19 Cellular Location |
Not Available |
| Enzyme 19 Gene Sequence |
>1356 bp
ATGAAGACAAAATTGAACATCTACAACATGCAGTTCCTGCTTTTTGTTTTCTTGGTGTGG
GACCCTGCCAGGTTGGTGCTGGCTAACATCCAAGAAGATGAGGCTAAAAATAACATTACC
ATCTTTACGAGAATTCTTGACAGACTTCTGGATGGTTACGATAATCGGCTTAGACCAGGA
CTGGGAGACAGTATTACTGAAGTCTTCACTAACATCTACGTGACCAGTTTTGGCCCTGTC
TCAGATACAGATATGGAATATACAATTGATGTTTTCTTTCGACAAAAATGGAAAGATGAA
CGTTTAAAATTTAAAGGTCCTATGAATATCCTTCGACTAAACAATTTAATGGCTAGCAAA
ATCTGGACTCCAGATACCTTTTTTCACAATGGGAAAAAATCAGTAGCTCATAATATGACA
ATGCCAAATAAGTTGCTTCGAATTCAGGATGATGGGACTCTGCTGTATACCATGAGGCTT
ACAGTTCAAGCTGAATGCCCAATGCACTTGGAGGATTTCCCAATGGATGCTCATTCATGT
CCTCTGAAATTTGGCAGCTATGCATATACAACTTCAGAGGTCACTTATATTTGGACTTAC
AATGCATCTGATTCAGTACAGGTTGCTCCTGATGGCTCTAGGTTAAATCAATATGACCTG
CTGGGCCAATCAATCGGAAAGGAGACAATTAAATCCAGTACAGGTGAATATACTGTAATG
ACAGCTCATTTCCACCTGAAAAGAAAAATTGGGTATTTTGTGATTCAAACCTATCTGCCT
TGCATCATGACTGTCATTCTCTCCCAAGTTTCATTCTGGCTTAACAGAGAATCTGTGCCT
GCAAGAACTGTGTTTGGAGTAACAACTGTCCTAACAATGACAACTCTAAGCATCAGTGCT
CGGAATTCTCTCCCCAAAGTGGCTTATGCAACTGCCATGGACTGGTTTATTGCTGTTTGT
TATGCATTTGTGTTCTCTGCCCTAATTGAATTTGCAACTGTTAATTACTTCACCAAAAGA
GGATGGGCTTGGGATGGGAAGAGTGTAGTAAATGACAAGAAAAAAGAAAAGGCTTCCGTT
ATGATACAGAACAACGCTTATGCAGTGGCTGTTGCCAATTATGCCCCGAATCTTTCAAAA
GATCCAGTTCTCTCCACCATCTCCAAGAGTGCAACCACGCCAGAACCCAACAAGAAGCCA
GAAAACAAGCCAGCTGAAGCAAAGAAAACTTTCAACAGTGTTAGCAAAATTGACAGAATG
TCCAGAATAGTTTTTCCAGTTTTGTTTGGTACCTTTAATTTAGTTTACTGGGCTACATAT
TTAAACAGAGAACCTGTATTAGGGGTCAGTCCTTGA
|
| Enzyme 19 GenBank Gene ID |
NM_000807.2  |
| Enzyme 19 GeneCard ID |
GABRA2  |
| Enzyme 19 GenAtlas ID |
GABRA2  |
| Enzyme 19 HGNC ID |
HGNC:4076  |
| Enzyme 19 Chromosome Location |
4 |
| Enzyme 19 Locus |
4p12 |
| Enzyme 19 SNPs |
SNPJam Report  |
| Enzyme 19 General References |
- Hadingham KL, Wingrove P, Le Bourdelles B, Palmer KJ, Ragan CI, Whiting PJ: Cloning of cDNA sequences encoding human alpha 2 and alpha 3 gamma-aminobutyric acidA receptor subunits and characterization of the benzodiazepine pharmacology of recombinant alpha 1-, alpha 2-, alpha 3-, and alpha 5-containing human gamma-aminobutyric acidA receptors. Mol Pharmacol. 1993 Jun;43(6):970-5. [PubMed
]
- Edenberg HJ, Dick DM, Xuei X, Tian H, Almasy L, Bauer LO, Crowe RR, Goate A, Hesselbrock V, Jones K, Kwon J, Li TK, Nurnberger JI Jr, O'Connor SJ, Reich T, Rice J, Schuckit MA, Porjesz B, Foroud T, Begleiter H: Variations in GABRA2, encoding the alpha 2 subunit of the GABA(A) receptor, are associated with alcohol dependence and with brain oscillations. Am J Hum Genet. 2004 Apr;74(4):705-14. Epub 2004 Mar 12. [PubMed
]
|
| Enzyme 19 Metabolite References |
Not Available |
|
Enzyme 20
[top]
|
| Enzyme 20 ID |
13911 |
| Enzyme 20 Name |
Gamma-aminobutyric acid receptor subunit alpha-3 |
| Enzyme 20 Synonyms |
- GABA(A) receptor subunit alpha-3
|
| Enzyme 20 Gene Name |
GABRA3 |
| Enzyme 20 Protein Sequence |
>Gamma-aminobutyric acid receptor subunit alpha-3
MIITQTSHCYMTSLGILFLINILPGTTGQGESRRQEPGDFVKQDIGGLSPKHAPDIPDDS
TDNITIFTRILDRLLDGYDNRLRPGLGDAVTEVKTDIYVTSFGPVSDTDMEYTIDVFFRQ
TWHDERLKFDGPMKILPLNNLLASKIWTPDTFFHNGKKSVAHNMTTPNKLLRLVDNGTLL
YTMRLTIHAECPMHLEDFPMDVHACPLKFGSYAYTTAEVVYSWTLGKNKSVEVAQDGSRL
NQYDLLGHVVGTEIIRSSTGEYVVMTTHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLN
RESVPARTVFGVTTVLTMTTLSISARNSLPKVAYATAMDWFIAVCYAFVFSALIEFATVN
YFTKRSWAWEGKKVPEALEMKKKTPAAPAKKTSTTFNIVGTTYPINLAKDTEFSTISKGA
APSASSTPTIIASPKATYVQDSPTETKTYNSVSKVDKISRIIFPVLFAIFNLVYWATYVN
RESAIKGMIRKQ
|
| Enzyme 20 Number of Residues |
492 |
| Enzyme 20 Molecular Weight |
55164.1 |
| Enzyme 20 Theoretical pI |
8.93 |
| Enzyme 20 GO Classification |
| Function |
- GABA receptor activity
- GABA-A receptor activity
- extracellular ligand-gated ion channel activity
- ion channel activity
- ion transmembrane transporter activity
- ligand-gated ion channel activity
- molecular transducer activity
- receptor activity
- signal transducer activity
- substrate-specific transmembrane transporter activity
- transmembrane receptor activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- G-protein coupled receptor protein signaling pathway
- anion transport
- cell surface receptor linked signaling pathway
- chloride transport
- establishment of localization
- gamma-aminobutyric acid signaling pathway
- inorganic anion transport
- ion transport
- signaling
- signaling pathway
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
- postsynaptic membrane
|
|
| Enzyme 20 General Function |
Involved in ion transport |
| Enzyme 20 Specific Function |
GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel |
| Enzyme 20 Pathways |
Not Available |
| Enzyme 20 Reactions |
Not Available |
| Enzyme 20 Pfam Domain Function |
|
| Enzyme 20 Signals |
|
| Enzyme 20 Transmembrane Regions |
- 277-298
304-325
338-359
458-479
|
| Enzyme 20 Essentiality |
Not Available |
| Enzyme 20 GenBank ID Protein |
Not Available |
| Enzyme 20 UniProtKB/Swiss-Prot ID |
P34903  |
| Enzyme 20 UniProtKB/Swiss-Prot Entry Name |
GBRA3_HUMAN  |
| Enzyme 20 PDB ID |
Not Available |
| Enzyme 20 Cellular Location |
Not Available |
| Enzyme 20 Gene Sequence |
>1479 bp
ATGATAATCACACAAACAAGTCACTGTTACATGACCAGCCTTGGGATTCTTTTCCTGATT
AATATTCTCCCTGGAACCACTGGTCAAGGGGAATCAAGACGACAAGAACCCGGGGACTTT
GTGAAGCAGGACATTGGCGGGCTGTCTCCTAAGCATGCCCCAGATATTCCTGATGACAGC
ACTGACAACATCACTATCTTCACCAGAATCTTGGATCGTCTTCTGGACGGCTATGACAAC
CGGCTGCGACCTGGGCTTGGAGATGCAGTGACTGAAGTGAAGACTGACATCTACGTGACC
AGTTTTGGCCCTGTGTCAGACACTGACATGGAGTACACTATTGATGTATTTTTTCGGCAG
ACATGGCATGATGAAAGACTGAAATTTGATGGCCCCATGAAGATCCTTCCACTGAACAAT
CTCCTGGCTAGTAAGATCTGGACACCGGACACCTTCTTCCACAATGGCAAGAAATCAGTG
GCTCATAACATGACCACGCCCAACAAGCTGCTCAGATTGGTGGACAACGGAACCCTCCTC
TATACAATGAGGTTAACAATTCATGCTGAGTGTCCCATGCATTTGGAAGATTTTCCCATG
GATGTGCATGCCTGCCCACTGAAGTTTGGAAGCTATGCCTATACAACAGCTGAAGTGGTT
TATTCTTGGACTCTCGGAAAGAACAAATCCGTGGAAGTGGCACAGGATGGTTCTCGCTTG
AACCAGTATGACCTTTTGGGCCATGTTGTTGGGACAGAGATAATCCGGTCTAGTACAGGA
GAATATGTCGTCATGACAACCCACTTCCATCTCAAGCGAAAAATTGGCTACTTTGTGATC
CAGACCTACTTGCCATGTATCATGACTGTCATTCTGTCACAAGTGTCGTTCTGGCTCAAC
AGAGAGTCTGTTCCTGCCCGTACAGTCTTTGGTGTCACCACTGTGCTTACCATGACCACC
TTGAGTATCAGTGCCAGAAATTCCTTACCTAAAGTGGCATATGCGACGGCCATGGACTGG
TTCATAGCCGTCTGTTATGCCTTTGTATTTTCTGCACTGATTGAATTTGCCACTGTCAAC
TATTTCACCAAGCGGAGTTGGGCTTGGGAAGGCAAGAAGGTGCCAGAGGCCCTGGAGATG
AAGAAGAAAACACCAGCAGCCCCAGCAAAGAAAACCAGCACTACCTTCAACATCGTGGGG
ACCACCTATCCCATCAACCTGGCCAAGGACACTGAATTTTCCACCATCTCCAAGGGCGCT
GCTCCCAGTGCCTCCTCAACCCCAACAATCATTGCTTCACCCAAGGCCACCTACGTGCAG
GACAGCCCGACTGAGACCAAGACCTACAACAGTGTCAGCAAGGTTGACAAAATTTCCCGC
ATCATCTTTCCTGTGCTCTTTGCCATATTCAATCTGGTCTATTGGGCCACATATGTCAAC
CGGGAGTCAGCTATCAAGGGCATGATCCGCAAACAGTAG
|
| Enzyme 20 GenBank Gene ID |
S62908  |
| Enzyme 20 GeneCard ID |
GABRA3  |
| Enzyme 20 GenAtlas ID |
GABRA3  |
| Enzyme 20 HGNC ID |
HGNC:4077  |
| Enzyme 20 Chromosome Location |
Not Available |
| Enzyme 20 Locus |
Not Available |
| Enzyme 20 SNPs |
SNPJam Report  |
| Enzyme 20 General References |
- Hadingham KL, Wingrove P, Le Bourdelles B, Palmer KJ, Ragan CI, Whiting PJ: Cloning of cDNA sequences encoding human alpha 2 and alpha 3 gamma-aminobutyric acidA receptor subunits and characterization of the benzodiazepine pharmacology of recombinant alpha 1-, alpha 2-, alpha 3-, and alpha 5-containing human gamma-aminobutyric acidA receptors. Mol Pharmacol. 1993 Jun;43(6):970-5. [PubMed
]
- Amir R, Dahle EJ, Toriolo D, Zoghbi HY: Candidate gene analysis in Rett syndrome and the identification of 21 SNPs in Xq. Am J Med Genet. 2000 Jan 3;90(1):69-71. [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
]
|
| Enzyme 20 Metabolite References |
Not Available |
|
Enzyme 21
[top]
|
| Enzyme 21 ID |
13912 |
| Enzyme 21 Name |
Gamma-aminobutyric acid receptor subunit alpha-4 |
| Enzyme 21 Synonyms |
- GABA(A) receptor subunit alpha-4
|
| Enzyme 21 Gene Name |
GABRA4 |
| Enzyme 21 Protein Sequence |
>Gamma-aminobutyric acid receptor subunit alpha-4
MVSAKKVPAIALSAGVSFALLRFLCLAVCLNESPGQNQKEEKLCTENFTRILDSLLDGYD
NRLRPGFGGPVTEVKTDIYVTSFGPVSDVEMEYTMDVFFRQTWIDKRLKYDGPIEILRLN
NMMVTKVWTPDTFFRNGKKSVSHNMTAPNKLFRIMRNGTILYTMRLTISAECPMRLVDFP
MDGHACPLKFGSYAYPKSEMIYTWTKGPEKSVEVPKESSSLVQYDLIGQTVSSETIKSIT
GEYIVMTVYFHLRRKMGYFMIQTYIPCIMTVILSQVSFWINKESVPARTVFGITTVLTMT
TLSISARHSLPKVSYATAMDWFIAVCFAFVFSALIEFAAVNYFTNIQMEKAKRKTSKPPQ
EVPAAPVQREKHPEAPLQNTNANLNMRKRTNALVHSESDVGNRTEVGNHSSKSSTVVQES
SKGTPRSYLASSPNPFSRANAAETISAARALPSASPTSIRTGYMPRKASVGSASTRHVFG
SRLQRIKTTVNTIGATGKLSATPPPSAPPPSGSGTSKIDKYARILFPVTFGAFNMVYWVV
YLSKDTMEKSESLM
|
| Enzyme 21 Number of Residues |
554 |
| Enzyme 21 Molecular Weight |
61622.6 |
| Enzyme 21 Theoretical pI |
10.02 |
| Enzyme 21 GO Classification |
| Function |
- GABA receptor activity
- GABA-A receptor activity
- extracellular ligand-gated ion channel activity
- ion channel activity
- ion transmembrane transporter activity
- ligand-gated ion channel activity
- molecular transducer activity
- receptor activity
- signal transducer activity
- substrate-specific transmembrane transporter activity
- transmembrane receptor activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- G-protein coupled receptor protein signaling pathway
- anion transport
- cell surface receptor linked signaling pathway
- chloride transport
- establishment of localization
- gamma-aminobutyric acid signaling pathway
- inorganic anion transport
- ion transport
- signaling
- signaling pathway
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
- postsynaptic membrane
|
|
| Enzyme 21 General Function |
Involved in ion transport |
| Enzyme 21 Specific Function |
GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel |
| Enzyme 21 Pathways |
Not Available |
| Enzyme 21 Reactions |
Not Available |
| Enzyme 21 Pfam Domain Function |
|
| Enzyme 21 Signals |
|
| Enzyme 21 Transmembrane Regions |
- 259-280
285-306
318-340
524-543
|
| Enzyme 21 Essentiality |
Not Available |
| Enzyme 21 GenBank ID Protein |
34452723  |
| Enzyme 21 UniProtKB/Swiss-Prot ID |
P48169  |
| Enzyme 21 UniProtKB/Swiss-Prot Entry Name |
GBRA4_HUMAN  |
| Enzyme 21 PDB ID |
Not Available |
| Enzyme 21 Cellular Location |
Not Available |
| Enzyme 21 Gene Sequence |
>1665 bp
ATGGTTTCTGCCAAGAAGGTACCCGCGATCGCTCTGTCCGCCGGGGTCAGTTTCGCCCTC
CTGCGCTTCCTGTGCCTGGCGGTTTGTTTAAACGAATCCCCAGGACAGAACCAAAAGGAG
GAGAAATTGTGCACAGAAAATTTCACCCGCATCCTGGACAGTTTGCTCGATGGTTATGAC
AACAGGCTGCGTCCTGGATTTGGGGGTCCTGTTACAGAAGTGAAAACTGACATATATGTC
ACCAGCTTTGGACCTGTTTCTGATGTTGAAATGGAATACACAATGGATGTGTTCTTCAGG
CAGACATGGATTGACAAAAGATTAAAATATGACGGCCCCATTGAAATTTTGAGATTGAAC
AATATGATGGTAACGAAAGTGTGGACCCCTGATACTTTCTTCAGGAATGGAAAGAAATCT
GTCTCACATAATATGACAGCTCCAAATAAGCTTTTTAGAATTATGAGAAATGGTACTATT
TTATACACAATGAGACTCACCATAAGTGCGGAGTGTCCCATGAGATTGGTGGATTTTCCC
ATGGATGGTCATGCATGCCCTTTGAAATTCGGGAGTTATGCCTATCCAAAGAGTGAGATG
ATCTATACCTGGACAAAAGGTCCTGAGAAATCAGTTGAAGTTCCGAAGGAGTCTTCCAGC
TTAGTTCAATATGATTTGATTGGGCAAACCGTATCAAGTGAAACCATCAAATCAATTACG
GGTGAATATATTGTTATGACGGTTTACTTCCACCTCAGACGGAAGATGGGTTATTTTATG
ATTCAGACCTATATTCCGTGCATTATGACAGTGATTCTTTCTCAAGTTTCATTTTGGATA
AATAAAGAATCAGTTCCCGCTAGGACTGTATTTGGAATAACAACTGTCCTCACCATGACC
ACACTAAGCATCAGTGCACGACATTCTTTGCCCAAAGTGTCCTATGCTACCGCCATGGAC
TGGTTCATAGCTGTCTGCTTTGCTTTTGTATTTTCGGCCCTTATCGAGTTTGCTGCTGTC
AACTATTTCACCAATATTCAAATGGAAAAAGCCAAAAGGAAGACATCAAAGCCCCCTCAG
GAAGTTCCCGCTGCTCCAGTGCAGAGAGAGAAGCATCCTGAAGCCCCTCTGCAGAATACA
AATGCCAATTTGAACATGAGAAAAAGAACAAATGCTTTGGTTCACTCTGAATCTGATGTT
GGCAACAGAACTGAGGTGGGAAACCATTCAAGCAAATCTTCCACAGTTGTTCAAGAATCT
TCTAAAGGCACACCTCGGTCTTACTTAGCTTCCAGTCCAAACCCATTCAGCCGTGCAAAT
GCAGCTGAAACCATATCTGCAGCAAGAGCACTTCCATCTGCTTCTCCTACTTCTATCCGA
ACTGGATATATGCCTCGAAAGGCTTCAGTTGGATCTGCTTCTACTCGTCACGTGTTTGGA
TCAAGACTGCAGAGGATAAAGACCACAGTTAATACCATAGGGGCTACTGGGAAGTTGTCA
GCTACTCCTCCTCCATCGGCTCCACCACCTTCTGGATCTGGCACAAGTAAAATAGACAAA
TATGCCCGTATTCTCTTTCCAGTCACATTTGGGGCATTTAACATGGTTTATTGGGTTGTT
TATTTATCTAAGGACACTATGGAGAAATCAGAAAGTCTAATGTAA
|
| Enzyme 21 GenBank Gene ID |
NM_000809.2  |
| Enzyme 21 GeneCard ID |
GABRA4  |
| Enzyme 21 GenAtlas ID |
GABRA4  |
| Enzyme 21 HGNC ID |
HGNC:4078  |
| Enzyme 21 Chromosome Location |
4 |
| Enzyme 21 Locus |
4p12 |
| Enzyme 21 SNPs |
SNPJam Report  |
| Enzyme 21 General References |
- Yang W, Drewe JA, Lan NC: Cloning and characterization of the human GABAA receptor alpha 4 subunit: identification of a unique diazepam-insensitive binding site. Eur J Pharmacol. 1995 Nov 30;291(3):319-25. [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
]
- McLean PJ, Farb DH, Russek SJ: Mapping of the alpha 4 subunit gene (GABRA4) to human chromosome 4 defines an alpha 2-alpha 4-beta 1-gamma 1 gene cluster: further evidence that modern GABAA receptor gene clusters are derived from an ancestral cluster. Genomics. 1995 Apr 10;26(3):580-6. [PubMed
]
- Tang LY, Deng N, Wang LS, Dai J, Wang ZL, Jiang XS, Li SJ, Li L, Sheng QH, Wu DQ, Li L, Zeng R: Quantitative phosphoproteome profiling of Wnt3a-mediated signaling network: indicating the involvement of ribonucleoside-diphosphate reductase M2 subunit phosphorylation at residue serine 20 in canonical Wnt signal transduction. Mol Cell Proteomics. 2007 Nov;6(11):1952-67. Epub 2007 Aug 12. [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 21 Metabolite References |
Not Available |
|
Enzyme 22
[top]
|
| Enzyme 22 ID |
13913 |
| Enzyme 22 Name |
Gamma-aminobutyric acid receptor subunit alpha-5 |
| Enzyme 22 Synonyms |
- GABA(A) receptor subunit alpha-5
|
| Enzyme 22 Gene Name |
GABRA5 |
| Enzyme 22 Protein Sequence |
>Gamma-aminobutyric acid receptor subunit alpha-5
MDNGMFSGFIMIKNLLLFCISMNLSSHFGFSQMPTSSVKDETNDNITIFTRILDGLLDGY
DNRLRPGLGERITQVRTDIYVTSFGPVSDTEMEYTIDVFFRQSWKDERLRFKGPMQRLPL
NNLLASKIWTPDTFFHNGKKSIAHNMTTPNKLLRLEDDGTLLYTMRLTISAECPMQLEDF
PMDAHACPLKFGSYAYPNSEVVYVWTNGSTKSVVVAEDGSRLNQYHLMGQTVGTENISTS
TGEYTIMTAHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTM
TTLSISARNSLPKVAYATAMDWFIAVCYAFVFSALIEFATVNYFTKRGWAWDGKKALEAA
KIKKKREVILNKSTNAFTTGKMSHPPNIPKEQTPAGTSNTTSVSVKPSEEKTSESKKTYN
SISKIDKMSRIVFPVLFGTFNLVYWATYLNREPVIKGAASPK
|
| Enzyme 22 Number of Residues |
462 |
| Enzyme 22 Molecular Weight |
52145.6 |
| Enzyme 22 Theoretical pI |
9.56 |
| Enzyme 22 GO Classification |
| Function |
- GABA receptor activity
- GABA-A receptor activity
- extracellular ligand-gated ion channel activity
- ion channel activity
- ion transmembrane transporter activity
- ligand-gated ion channel activity
- molecular transducer activity
- receptor activity
- signal transducer activity
- substrate-specific transmembrane transporter activity
- transmembrane receptor activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- G-protein coupled receptor protein signaling pathway
- anion transport
- cell surface receptor linked signaling pathway
- chloride transport
- establishment of localization
- gamma-aminobutyric acid signaling pathway
- inorganic anion transport
- ion transport
- signaling
- signaling pathway
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
- postsynaptic membrane
|
|
| Enzyme 22 General Function |
Involved in ion transport |
| Enzyme 22 Specific Function |
GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel |
| Enzyme 22 Pathways |
Not Available |
| Enzyme 22 Reactions |
Not Available |
| Enzyme 22 Pfam Domain Function |
|
| Enzyme 22 Signals |
|
| Enzyme 22 Transmembrane Regions |
- 260-281
286-307
319-341
428-449
|
| Enzyme 22 Essentiality |
Not Available |
| Enzyme 22 GenBank ID Protein |
182916  |
| Enzyme 22 UniProtKB/Swiss-Prot ID |
P31644  |
| Enzyme 22 UniProtKB/Swiss-Prot Entry Name |
GBRA5_HUMAN  |
| Enzyme 22 PDB ID |
Not Available |
| Enzyme 22 Cellular Location |
Not Available |
| Enzyme 22 Gene Sequence |
>1389 bp
ATGGACAATGGAATGTTCTCTGGTTTTATCATGATCAAAAACCTCCTTCTCTTTTGTATT
TCCATGAACTTATCCAGTCACTTTGGCTTTTCACAGATGCCAACCAGTTCAGTGAAAGAT
GAGACCAATGACAACATCACGATATTTACCAGGATCTTGGATGGGCTCTTGGATGGCTAC
GACAACAGACTTCGGCCCGGGCTGGGAGAGCGCATCACTCAGGTGAGGACCGACATCTAC
GTCACCAGCTTCGGCCCGGTGTCCGACACGGAAATGGAGTACACCATAGACGTGTTTTTC
CGACAAAGCTGGAAAGATGAAAGGCTTCGGTTTAAGGGGCCCATGCAGCGCCTCCCTCTC
AACAACCTCCTTGCCAGCAAGATCTGGACCCCAGACACGTTCTTCCACAACGGGAAGAAG
TCCATCGCTCACAACATGACCACGCCCAACAAGCTGCTGCGGCTGGAGGACGACGGCACC
CTGCTCTACACCATGCGCTTGACCATCTCTGCAGAGTGCCCCATGCAGCTTGAGGACTTC
CCGATGGATGCGCACGCTTGCCCTCTGAAATTTGGCAGCTATGCGTACCCTAATTCTGAA
GTCGTTTACGTCTGGACCAACGGCTCCACCAAGTCGGTGGTGGTGGCGGAAGATGGCTCC
AGACTGAACCAGTACCACCTGATGGGGCAGACGGTGGGCACTGAGAACATCAGCACCAGC
ACAGGCGAATACACAATCATGACAGCTCACTTCCACCTGAAAAGGAAGATTGGCTACTTT
GTCATCCAGACCTACCTTCCCTGCATAATGACCGTGATCTTATCACAGGTGTCCTTTTGG
CTGAACCGGGAATCAGTCCCAGCCAGGACAGTTTTTGGGGTCACCACGGTGCTGACCATG
ACGACCCTCAGCATCAGCGCCAGGAACTCTCTGCCCAAAGTGGCCTACGCCACCGCCATG
GACTGGTTCATAGCTGTGTGCTATGCCTTCGTCTTCTCGGCGCTGATAGAGTTTGCCACG
GTCAATTACTTTACCAAGAGAGGCTGGGCCTGGGATGGCAAAAAAGCCTTGGAAGCAGCC
AAGATCAAGAAAAAGCGTGAAGTCATACTAAATAAGTCAACAAACGCTTTTACAACTGGG
AAGATGTCTCACCCCCCAAACATTCCGAAGGAACAGACCCCAGCAGGGACGTCGAATACA
ACCTCAGTCTCAGTAAAACCCTCTGAAGAGAAGACTTCTGAAAGCAAAAAGACTTACAAC
AGTATCAGCAAAATTGACAAAATGTCCCGAATCGTATTCCCAGTCTTGTTCGGCACTTTC
AACTTAGTTTACTGGGCAACGTATTTGAATAGGGAGCCGGTGATAAAAGGAGCCGCCTCT
CCAAAATAA
|
| Enzyme 22 GenBank Gene ID |
L08485  |
| Enzyme 22 GeneCard ID |
GABRA5  |
| Enzyme 22 GenAtlas ID |
GABRA5  |
| Enzyme 22 HGNC ID |
HGNC:4079  |
| Enzyme 22 Chromosome Location |
1 |
| Enzyme 22 Locus |
15q11.2-q12 |
| Enzyme 22 SNPs |
SNPJam Report  |
| Enzyme 22 General References |
- Knoll JH, Sinnett D, Wagstaff J, Glatt K, Wilcox AS, Whiting PM, Wingrove P, Sikela JM, Lalande M: FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions. Hum Mol Genet. 1993 Feb;2(2):183-9. [PubMed
]
- Wingrove P, Hadingham K, Wafford K, Kemp JA, Ragan CI, Whiting P: Cloning and expression of a cDNA encoding the human GABA-A receptor alpha 5 subunit. Biochem Soc Trans. 1992 Feb;20(1):18S. [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
]
- Kim Y, Glatt H, Xie W, Sinnett D, Lalande M: Human gamma-aminobutyric acid-type A receptor alpha5 subunit gene (GABRA5): characterization and structural organization of the 5' flanking region. Genomics. 1997 Jun 15;42(3):378-87. [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 22 Metabolite References |
Not Available |
|
Enzyme 23
[top]
|
| Enzyme 23 ID |
13914 |
| Enzyme 23 Name |
Gamma-aminobutyric acid receptor subunit alpha-6 |
| Enzyme 23 Synonyms |
- GABA(A) receptor subunit alpha-6
|
| Enzyme 23 Gene Name |
GABRA6 |
| Enzyme 23 Protein Sequence |
>Gamma-aminobutyric acid receptor subunit alpha-6
MASSLPWLCIILWLENALGKLEVEGNFYSENVSRILDNLLEGYDNRLRPGFGGAVTEVKT
DIYVTSFGPVSDVEMEYTMDVFFRQTWTDERLKFGGPTEILSLNNLMVSKIWTPDTFFRN
GKKSIAHNMTTPNKLFRIMQNGTILYTMRLTINADCPMRLVNFPMDGHACPLKFGSYAYP
KSEIIYTWKKGPLYSVEVPEESSSLLQYDLIGQTVSSETIKSNTGEYVIMTVYFHLQRKM
GYFMIQIYTPCIMTVILSQVSFWINKESVPARTVFGITTVLTMTTLSISARHSLPKVSYA
TAMDWFIAVCFAFVFSALIEFAAVNYFTNLQTQKAKRKAQFAAPPTVTISKATEPLEAEI
VLHPDSKYHLKKRITSLSLPIVSSSEANKVLTRAPILQSTPVTPPPLSPAFGGTSKIDQY
SRILFPVAFAGFNLVYWVVYLSKDTMEVSSSVE
|
| Enzyme 23 Number of Residues |
453 |
| Enzyme 23 Molecular Weight |
51023.7 |
| Enzyme 23 Theoretical pI |
8.40 |
| Enzyme 23 GO Classification |
| Function |
- GABA receptor activity
- GABA-A receptor activity
- extracellular ligand-gated ion channel activity
- ion channel activity
- ion transmembrane transporter activity
- ligand-gated ion channel activity
- molecular transducer activity
- receptor activity
- signal transducer activity
- substrate-specific transmembrane transporter activity
- transmembrane receptor activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- G-protein coupled receptor protein signaling pathway
- anion transport
- cell surface receptor linked signaling pathway
- chloride transport
- establishment of localization
- gamma-aminobutyric acid signaling pathway
- inorganic anion transport
- ion transport
- signaling
- signaling pathway
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
- postsynaptic membrane
|
|
| Enzyme 23 General Function |
Involved in ion transport |
| Enzyme 23 Specific Function |
GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel |
| Enzyme 23 Pathways |
Not Available |
| Enzyme 23 Reactions |
Not Available |
| Enzyme 23 Pfam Domain Function |
|
| Enzyme 23 Signals |
|
| Enzyme 23 Transmembrane Regions |
- 243-264
269-290
301-324
420-441
|
| Enzyme 23 Essentiality |
Not Available |
| Enzyme 23 GenBank ID Protein |
158259945  |
| Enzyme 23 UniProtKB/Swiss-Prot ID |
Q16445  |
| Enzyme 23 UniProtKB/Swiss-Prot Entry Name |
GBRA6_HUMAN  |
| Enzyme 23 PDB ID |
Not Available |
| Enzyme 23 Cellular Location |
Not Available |
| Enzyme 23 Gene Sequence |
>1362 bp
ATGGCGTCGTCTCTGCCCTGGCTGTGCATTATTCTGTGGCTAGAAAATGCCCTAGGGAAA
CTCGAAGTTGAAGGCAACTTCTACTCAGAAAACGTCAGTCGGATCCTGGACAACTTGCTT
GAAGGCTATGACAATCGGCTGCGGCCGGGATTTGGAGGTGCTGTCACTGAAGTCAAAACA
GACATTTATGTGACCAGTTTTGGGCCCGTGTCAGATGTGGAGATGGAGTATACGATGGAT
GTTTTTTTCCGCCAGACCTGGACTGATGAGAGGTTGAAGTTTGGGGGGCCAACTGAGATT
CTGAGTCTGAATAATTTGATGGTCAGTAAAATCTGGACGCCTGACACCTTTTTCAGAAAT
GGTAAAAAGTCCATTGCTCACAACATGACAACTCCTAATAAACTCTTCAGAATAATGCAG
AATGGAACCATTTTATACACCATGAGGCTTACCATCAATGCTGACTGTCCCATGAGGCTG
GTTAACTTTCCTATGGATGGGCATGCTTGTCCACTCAAGTTTGGGAGCTATGCTTATCCC
AAAAGTGAAATCATATATACGTGGAAAAAAGGACCACTTTACTCAGTAGAAGTCCCAGAA
GAATCTTCAAGCCTTCTCCAGTATGACCTGATTGGACAAACAGTATCTAGTGAGACAATT
AAATCTAACACAGGTGAATACGTTATAATGACAGTTTACTTCCACTTGCAAAGGAAGATG
GGCTACTTCATGATACAGATATACACTCCTTGCATTATGACAGTCATTCTTTCCCAGGTG
TCTTTCTGGATTAATAAGGAGTCCGTCCCAGCAAGAACTGTTTTTGGGATCACCACTGTT
TTAACTATGACCACTTTGAGCATCAGTGCCCGGCACTCTTTGCCAAAAGTGTCATATGCC
ACTGCCATGGATTGGTTCATAGCTGTTTGCTTTGCATTCGTCTTCTCTGCTCTTATCGAG
TTCGCAGCTGTCAACTACTTTACCAATCTTCAGACACAGAAGGCCAAAAGGAAGGCACAG
TTTGCAGCCCCACCCACAGTGACAATATCAAAAGCTACTGAACCTTTGGAAGCTGAGATT
GTTTTGCATCCTGACTCCAAATATCATCTGAAGAAAAGGATCACTTCTCTGTCTTTGCCA
ATAGTTTCATCTTCCGAGGCCAATAAAGTGCTCACGAGAGCGCCCATCTTACAATCAACA
CCTGTCACACCCCCACCACTCTCGCCAGCCTTTGGAGGCACCAGTAAAATAGACCAGTAT
TCTCGAATTCTCTTCCCAGTTGCATTTGCAGGATTCAACCTTGTGTACTGGGTAGTTTAT
CTTTCCAAAGATACAATGGAAGTGAGTAGCAGTGTTGAATAG
|
| Enzyme 23 GenBank Gene ID |
AK289461  |
| Enzyme 23 GeneCard ID |
GABRA6  |
| Enzyme 23 GenAtlas ID |
GABRA6  |
| Enzyme 23 HGNC ID |
HGNC:4080  |
| Enzyme 23 Chromosome Location |
5 |
| Enzyme 23 Locus |
5q34 |
| Enzyme 23 SNPs |
SNPJam Report  |
| Enzyme 23 General References |
- Hadingham KL, Garrett EM, Wafford KA, Bain C, Heavens RP, Sirinathsinghji DJ, Whiting PJ: Cloning of cDNAs encoding the human gamma-aminobutyric acid type A receptor alpha 6 subunit and characterization of the pharmacology of alpha 6-containing receptors. Mol Pharmacol. 1996 Feb;49(2):253-9. [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
]
- 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 23 Metabolite References |
Not Available |
|
Enzyme 24
[top]
|
| Enzyme 24 ID |
13915 |
| Enzyme 24 Name |
Gamma-aminobutyric acid receptor subunit beta-1 |
| Enzyme 24 Synonyms |
- GABA(A) receptor subunit beta-1
|
| Enzyme 24 Gene Name |
GABRB1 |
| Enzyme 24 Protein Sequence |
>Gamma-aminobutyric acid receptor subunit beta-1
MWTVQNRESLGLLSFPVMITMVCCAHSTNEPSNMSYVKETVDRLLKGYDIRLRPDFGGPP
VDVGMRIDVASIDMVSEVNMDYTLTMYFQQSWKDKRLSYSGIPLNLTLDNRVADQLWVPD
TYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAACMMDLRRYPLDEQNCTLEIE
SYGYTTDDIEFYWNGGEGAVTGVNKIELPQFSIVDYKMVSKKVEFTTGAYPRLSLSFRLK
RNIGYFILQTYMPSTLITILSWVSFWINYDASAARVALGITTVLTMTTISTHLRETLPKI
PYVKAIDIYLMGCFVFVFLALLEYAFVNYIFFGKGPQKKGASKQDQSANEKNKLEMNKVQ
VDAHGNILLSTLEIRNETSGSEVLTSVSDPKATMYSYDSASIQYRKPLSSREAYGRALDR
HGVPSKGRIRRRASQLKVKIPDLTDVNSIDKWSRMFFPITFSLFNVVYWLYYVH
|
| Enzyme 24 Number of Residues |
474 |
| Enzyme 24 Molecular Weight |
54234.1 |
| Enzyme 24 Theoretical pI |
9.01 |
| Enzyme 24 GO Classification |
| Function |
- GABA receptor activity
- GABA-A receptor activity
- extracellular ligand-gated ion channel activity
- ion channel activity
- ion transmembrane transporter activity
- ligand-gated ion channel activity
- molecular transducer activity
- receptor activity
- signal transducer activity
- substrate-specific transmembrane transporter activity
- transmembrane receptor activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- ion transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
- postsynaptic membrane
|
|
| Enzyme 24 General Function |
Involved in ion transport |
| Enzyme 24 Specific Function |
GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel |
| Enzyme 24 Pathways |
Not Available |
| Enzyme 24 Reactions |
Not Available |
| Enzyme 24 Pfam Domain Function |
|
| Enzyme 24 Signals |
|
| Enzyme 24 Transmembrane Regions |
- 246-267
271-293
305-327
452-473
|
| Enzyme 24 Essentiality |
Not Available |
| Enzyme 24 GenBank ID Protein |
31635  |
| Enzyme 24 UniProtKB/Swiss-Prot ID |
P18505  |
| Enzyme 24 UniProtKB/Swiss-Prot Entry Name |
GBRB1_HUMAN  |
| Enzyme 24 PDB ID |
Not Available |
| Enzyme 24 Cellular Location |
Not Available |
| Enzyme 24 Gene Sequence |
>1425 bp
ATGTGGACAGTACAAAATCGAGAGAGTCTGGGGCTTCTCTCTTTCCCTGTGATGATTACC
ATGGTCTGTTGTGCACACAGCACCAATGAACCCAGCAACATGCCATACGTGAAAGAGACA
GTGGACAGATTGCTCAAAGGATATGACATTCGCTTGCGGCCGGACTTCGGAGGGCCCCCC
GTCGACGTTGGGATGCGGATCGATGTCGCCAGCATAGACATGGTCTCCGAAGTGAATATG
GATTATACACTCACCATGTATTTCCAGCAGTCTTGGAAAGACAAAAGGCTTTCTTATTCT
GGAATCCCACTGAACCTCACCCTAGACAATAGGGTAGCTGACCAACTCTGGGTACCAGAC
ACCTACTTTCTGAATGACAAGAAATCATTTGTGCATGGGGTCACAGTGAAAAATCGAATG
ATTCGACTGCATCCTGATGGAACAGTTCTCTATGGACTCCGAATCACAACCACAGCTGCA
TGTATGATGGATCTTCGAAGATATCCACTGGATGAGCAGAACTGCACCCTGGAGATCGAA
AGTTATGGCTATACCACTGATGACATTGAATTTTACTGGAATGGAGGAGAAGGGGCAGTC
ACTGGTGTTAATAAAATCGAACTTCCTCAATTTTCAATTGTTGACTACAAGATGGTGTCT
AAGAAGGTGGAGTTCACAACAGGAGCGTATCCACGACTGTCACTAAGTTTTCGTCTAAAG
AGAAACATTGGTTACTTCATTTTGCAAACCTACATGCCTTCTACACTGATTACAATTCTG
TCCTGGGTGTCTTTTTGGATCAACTATGATGCATCTGCAGCCAGAGTCGCACTAGGAATC
ACGACGGTGCTTACAATGACAACCATCAGCACCCACCTCAGGGAGACCCTGCCAAAGATC
CCTTATGTCAAAGCGATTGATATTTATCTGATGGGTTGCTTTGTGTTTGTGTTCCTGGCT
CTGCTGGAGTATGCCTTTGTAAATTACATCTTCTTTGGGAAAGGCCCTCAGAAAAAGGGA
GCTAGCAAACAAGACCAGAGTGCCAATGAGAAGAATAAACTGGAGATGAATAAAGTCCAG
GTCGACGCCCACGGTAACATTCTCCTCAGCACCCTGGAAATCCGGAATGAGACGAGTGGC
TCGGAAGTGCTCACGAGCGTGAGCGACCCCAAGGCCACCATGTACTCCTATGACAGCGCC
AGCATCCAGTACCGCAAGCCCCTGAGCAGCCGCGAGGCCTACGGGCGCGCCCTGGACCGG
CACGGGGTACCCAGCAAGGGGCGCATCCGCAGGCGTGCCTCCCAGCTCAAAGTCAAGATC
CCCGACTTGACTGATGTGAATTCCATAGACAAGTGGTCCCGAATGTTTTTCCCCATCACC
TTTTCTCTTTTTAATGTCGTCTATTGGCTTTACTATGTACACTGA
|
| Enzyme 24 GenBank Gene ID |
X14767  |
| Enzyme 24 GeneCard ID |
GABRB1  |
| Enzyme 24 GenAtlas ID |
GABRB1  |
| Enzyme 24 HGNC ID |
HGNC:4081  |
| Enzyme 24 Chromosome Location |
4 |
| Enzyme 24 Locus |
4p12 |
| Enzyme 24 SNPs |
SNPJam Report  |
| Enzyme 24 General References |
- Schofield PR, Pritchett DB, Sontheimer H, Kettenmann H, Seeburg PH: Sequence and expression of human GABAA receptor alpha 1 and beta 1 subunits. FEBS Lett. 1989 Feb 27;244(2):361-4. [PubMed
]
- Kirkness EF, Kusiak JW, Fleming JT, Menninger J, Gocayne JD, Ward DC, Venter JC: Isolation, characterization, and localization of human genomic DNA encoding the beta 1 subunit of the GABAA receptor (GABRB1). Genomics. 1991 Aug;10(4):985-95. [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
]
- Garrett KM, Saito N, Duman RS, Abel MS, Ashton RA, Fujimori S, Beer B, Tallman JF, Vitek MP, Blume AJ: Differential expression of gamma-aminobutyric acidA receptor subunits. Mol Pharmacol. 1990 May;37(5):652-7. [PubMed
]
- Coon H, Sobell J, Heston L, Sommer S, Hoff M, Holik J, Umar F, Robertson M, Reimherr F, Wender P, et al.: Search for mutations in the beta 1 GABAA receptor subunit gene in patients with schizophrenia. Am J Med Genet. 1994 Mar 15;54(1):12-20. [PubMed
]
- Yu LR, Zhu Z, Chan KC, Issaq HJ, Dimitrov DS, Veenstra TD: Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra. J Proteome Res. 2007 Nov;6(11):4150-62. Epub 2007 Oct 9. [PubMed
]
|
| Enzyme 24 Metabolite References |
Not Available |
|
Enzyme 25
[top]
|
| Enzyme 25 ID |
13916 |
| Enzyme 25 Name |
Gamma-aminobutyric acid receptor subunit beta-2 |
| Enzyme 25 Synonyms |
- GABA(A) receptor subunit beta-2
|
| Enzyme 25 Gene Name |
GABRB2 |
| Enzyme 25 Protein Sequence |
>Gamma-aminobutyric acid receptor subunit beta-2
MWRVRKRGYFGIWSFPLIIAAVCAQSVNDPSNMSLVKETVDRLLKGYDIRLRPDFGGPPV
AVGMNIDIASIDMVSEVNMDYTLTMYFQQAWRDKRLSYNVIPLNLTLDNRVADQLWVPDT
YFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAACMMDLRRYPLDEQNCTLEIES
YGYTTDDIEFYWRGDDNAVTGVTKIELPQFSIVDYKLITKKVVFSTGSYPRLSLSFKLKR
NIGYFILQTYMPSILITILSWVSFWINYDASAARVALGITTVLTMTTINTHLRETLPKIP
YVKAIDMYLMGCFVFVFMALLEYALVNYIFFGRGPQRQKKAAEKAASANNEKMRLDVNKI
FYKDIKQNGTQYRSLWDPTGNLSPTRRTTNYDFSLYTMDPHENILLSTLEIKNEMATSEA
VMGLGDPRSTMLAYDASSIQYRKAGLPRHSFGRNALERHVAQKKSRLRRRASQLKITIPD
LTDVNAIDRWSRIFFPVVFSFFNIVYWLYYVN
|
| Enzyme 25 Number of Residues |
512 |
| Enzyme 25 Molecular Weight |
59149.9 |
| Enzyme 25 Theoretical pI |
9.70 |
| Enzyme 25 GO Classification |
| Function |
- GABA receptor activity
- GABA-A receptor activity
- extracellular ligand-gated ion channel activity
- ion channel activity
- ion transmembrane transporter activity
- ligand-gated ion channel activity
- molecular transducer activity
- receptor activity
- signal transducer activity
- substrate-specific transmembrane transporter activity
- transmembrane receptor activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- ion transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
- postsynaptic membrane
|
|
| Enzyme 25 General Function |
Involved in ion transport |
| Enzyme 25 Specific Function |
GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel |
| Enzyme 25 Pathways |
Not Available |
| Enzyme 25 Reactions |
Not Available |
| Enzyme 25 Pfam Domain Function |
|
| Enzyme 25 Signals |
|
| Enzyme 25 Transmembrane Regions |
- 245-266
270-292
304-326
490-511
|
| Enzyme 25 Essentiality |
Not Available |
| Enzyme 25 GenBank ID Protein |
12548785  |
| Enzyme 25 UniProtKB/Swiss-Prot ID |
P47870  |
| Enzyme 25 UniProtKB/Swiss-Prot Entry Name |
GBRB2_HUMAN  |
| Enzyme 25 PDB ID |
Not Available |
| Enzyme 25 Cellular Location |
Not Available |
| Enzyme 25 Gene Sequence |
>1539 bp
ATGTGGAGAGTGCGGAAAAGGGGCTACTTTGGGATTTGGTCCTTCCCCTTAATAATCGCC
GCTGTCTGTGCGCAGAGTGTCAATGACCCTAGTAATATGTCGCTGGTTAAAGAGACGGTG
GATAGACTCCTGAAAGGCTATGACATTCGTCTGAGACCAGATTTTGGAGGTCCCCCCGTG
GCTGTGGGGATGAACATTGACATTGCCAGCATCGATATGGTTTCTGAAGTCAATATGGAT
TATACCTTGACAATGTACTTTCAACAAGCCTGGAGAGATAAGAGGCTGTCCTATAATGTA
ATACCTTTAAACTTGACTCTGGACAACAGAGTGGCAGACCAGCTCTGGGTGCCTGATACC
TATTTCCTGAACGATAAGAAGTCATTTGTGCACGGAGTGACTGTTAAGAACCGCATGATT
CGCCTGCATCCTGATGGCACCGTCCTTTATGGACTCAGAATCACAACCACAGCTGCCTGC
ATGATGGACCTAAGGAGGTACCCACTGGATGAACAAAACTGCACCTTGGAAATTGAGAGC
TATGGATACACAACTGATGACATTGAGTTTTACTGGCGTGGCGATGATAATGCAGTAACA
GGAGTAACGAAAATTGAACTTCCACAGTTCTCTATTGTAGATTACAAACTTATCACCAAG
AAGGTTGTTTTTTCCACAGGTTCCTATCCCAGGTTATCCCTCAGCTTTAAGCTTAAGAGA
AACATTGGCTACTTTATCCTGCAAACATACATGCCTTCCATCCTGATTACCATCCTCTCC
TGGGTCTCCTTCTGGATTAATTACGATGCTTCAGCTGCAAGGGTGGCATTAGGAATCACA
ACTGTCCTCACAATGACCACAATCAACACCCACCTCCGGGAAACTCTCCCTAAAATCCCC
TATGTGAAGGCCATTGACATGTACCTGATGGGGTGCTTTGTCTTCGTTTTCATGGCCCTT
CTGGAATATGCCCTAGTCAACTACATCTTCTTTGGGAGGGGGCCCCAACGCCAAAAGAAA
GCAGCTGAGAAGGCTGCCAGTGCCAACAATGAGAAGATGCGCCTGGATGTCAACAAGATT
TTTTATAAAGATATTAAACAAAATGGGACCCAATATCGATCCTTGTGGGACCCTACTGGA
AACCTCTCCCCAACTAGACGGACTACCAATTACGATTTCTCTCTGTATACGATGGACCCC
CATGAGAACATCTTACTGAGCACTCTCGAGATAAAAAATGAAATGGCCACATCTGAGGCT
GTGATGGGACTTGGAGACCCCAGAAGCACAATGCTAGCCTATGATGCCTCCAGCATCCAG
TATCGGAAAGCTGGGTTGCCCAGGCATAGTTTTGGCCGAAATGCTCTGGAACGACATGTG
GCGCAAAAGAAAAGTCGCCTGAGGAGACGCGCCTCCCAACTGAAAATCACCATCCCTGAC
TTGACTGATGTGAATGCCATAGATCGGTGGTCCCGCATATTCTTCCCAGTGGTTTTTTCC
TTCTTCAACATCGTCTATTGGCTTTATTATGTGAACTAA
|
| Enzyme 25 GenBank Gene ID |
NM_021911.2  |
| Enzyme 25 GeneCard ID |
GABRB2  |
| Enzyme 25 GenAtlas ID |
GABRB2  |
| Enzyme 25 HGNC ID |
HGNC:4082  |
| Enzyme 25 Chromosome Location |
5 |
| Enzyme 25 Locus |
5q34 |
| Enzyme 25 SNPs |
SNPJam Report  |
| Enzyme 25 General References |
- Hadingham KL, Wingrove PB, Wafford KA, Bain C, Kemp JA, Palmer KJ, Wilson AW, Wilcox AS, Sikela JM, Ragan CI, et al.: Role of the beta subunit in determining the pharmacology of human gamma-aminobutyric acid type A receptors. Mol Pharmacol. 1993 Dec;44(6):1211-8. [PubMed
]
- McKinley DD, Lennon DJ, Carter DB: Cloning, sequence analysis and expression of two forms of mRNA coding for the human beta 2 subunit of the GABAA receptor. Brain Res Mol Brain Res. 1995 Jan;28(1):175-9. [PubMed
]
- Zhao C, Xu Z, Wang F, Chen J, Ng SK, Wong PW, Yu Z, Pun FW, Ren L, Lo WS, Tsang SY, Xue H: Alternative-splicing in the exon-10 region of GABA(A) receptor beta(2) subunit gene: relationships between novel isoforms and psychotic disorders. PLoS One. 2009 Sep 18;4(9):e6977. [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
]
- Zhao C, Xu Z, Chen J, Yu Z, Tong KL, Lo WS, Pun FW, Ng SK, Tsang SY, Xue H: Two isoforms of GABA(A) receptor beta2 subunit with different electrophysiological properties: Differential expression and genotypical correlations in schizophrenia. Mol Psychiatry. 2006 Dec;11(12):1092-105. Epub 2006 Sep 19. [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 25 Metabolite References |
Not Available |
|
Enzyme 26
[top]
|
| Enzyme 26 ID |
13917 |
| Enzyme 26 Name |
Gamma-aminobutyric acid receptor subunit beta-3 |
| Enzyme 26 Synonyms |
- GABA(A) receptor subunit beta-3
|
| Enzyme 26 Gene Name |
GABRB3 |
| Enzyme 26 Protein Sequence |
>Gamma-aminobutyric acid receptor subunit beta-3
MWGLAGGRLFGIFSAPVLVAVVCCAQSVNDPGNMSFVKETVDKLLKGYDIRLRPDFGGPP
VCVGMNIDIASIDMVSEVNMDYTLTMYFQQYWRDKRLAYSGIPLNLTLDNRVADQLWVPD
TYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAACMMDLRRYPLDEQNCTLEIE
SYGYTTDDIEFYWRGGDKAVTGVERIELPQFSIVEHRLVSRNVVFATGAYPRLSLSFRLK
RNIGYFILQTYMPSILITILSWVSFWINYDASAARVALGITTVLTMTTINTHLRETLPKI
PYVKAIDMYLMGCFVFVFLALLEYAFVNYIFFGRGPQRQKKLAEKTAKAKNDRSKSESNR
VDAHGNILLTSLEVHNEMNEVSGGIGDTRNSAISFDNSGIQYRKQSMPREGHGRFLGDRS
LPHKKTHLRRRSSQLKIKIPDLTDVNAIDRWSRIVFPFTFSLFNLVYWLYYVN
|
| Enzyme 26 Number of Residues |
473 |
| Enzyme 26 Molecular Weight |
54115.0 |
| Enzyme 26 Theoretical pI |
9.41 |
| Enzyme 26 GO Classification |
| Function |
- GABA receptor activity
- GABA-A receptor activity
- extracellular ligand-gated ion channel activity
- ion channel activity
- ion transmembrane transporter activity
- ligand-gated ion channel activity
- molecular transducer activity
- receptor activity
- signal transducer activity
- substrate-specific transmembrane transporter activity
- transmembrane receptor activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- ion transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
- postsynaptic membrane
|
|
| Enzyme 26 General Function |
Involved in ion transport |
| Enzyme 26 Specific Function |
GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel |
| Enzyme 26 Pathways |
Not Available |
| Enzyme 26 Reactions |
Not Available |
| Enzyme 26 Pfam Domain Function |
|
| Enzyme 26 Signals |
|
| Enzyme 26 Transmembrane Regions |
- 246-267
271-293
305-327
451-472
|
| Enzyme 26 Essentiality |
Not Available |
| Enzyme 26 GenBank ID Protein |
182925  |
| Enzyme 26 UniProtKB/Swiss-Prot ID |
P28472  |
| Enzyme 26 UniProtKB/Swiss-Prot Entry Name |
GBRB3_HUMAN  |
| Enzyme 26 PDB ID |
Not Available |
| Enzyme 26 Cellular Location |
Not Available |
| Enzyme 26 Gene Sequence |
>1422 bp
ATGTGGGGCCTTGCGGGAGGAAGGCTTTTCGGCATCTTCTCGGCCCCGGTGCTGGTGGCT
GTGGTGTGCTGCGCCCAGAGTGTGAACGATCCCGGGAACATGTCCTTTGTGAAGGAGACG
GTGGACAAGCTGTTGAAAGGCTACGACATTCGCCTAAGACCCGACTTCGGGGGTCCCCCG
GTCTGCGTGGGGATGAACATCGACATCGCCAGCATCGACATGGTTTCCGAAGTCAACATG
GATTATACCTTAACCATGTATTTTCAACAATATTGGAGAGATAAAAGGCTCGCCTATTCT
GGGATCCCTCTCAACCTCACGCTTGACAATCGAGTGGCTGACCAGCTATGGGTGCCCGAC
ACATATTTCTTAAATGACAAAAAGTCATTTGTGCATGGAGTGACAGTGAAAAACCGCATG
ATCCGTCTTCACCCTGATGGGACAGTGCTGTATGGGCTCAGAATCACCACGACAGCAGCA
TGCATGATGGACCTCAGGAGATACCCCCTGGACGAGCAGAACTGCACTCTGGAAATTGAA
AGCTATGGCTACACCACGGATGACATTGAGTTTTACTGGCGAGGCGGGGACAAGGCTGTT
ACCGGAGTGGAAAGGATTGAGCTCCCGCAGTTCTCCATCGTGGAGCACCGTCTGGTCTCG
AGGAATGTTGTCTTCGCCACAGGTGCCTATCCTCGACTGTCACTGAGCTTTCGGTTGAAG
AGGAACATTGGATACTTCATTCTTCAGACTTATATGCCCTCTATACTGATAACGATTCTG
TCGTGGGTGTCCTTCTGGATCAATTATGATGCATCTGCTGCTAGAGTTGCCCTCGGGATC
ACAACTGTGCTGACAATGACAACCATCAACACCCACCTTCGGGAGACCTTGCCCAAAATC
CCCTATGTCAAAGCCATTGACATGTACCTTATGGGCTGCTTCGTCTTTGTGTTCCTGGCC
CTTCTGGAGTATGCCTTTGTCAACTACATTTTCTTTGGAAGAGGCCCTCAAAGGCAGAAG
AAGCTTGCAGAAAAGACAGCCAAGGCAAAGAATGACCGTTCAAAGAGCGAAAGCAACCGG
GTGGATGCTCATGGAAATATTCTGTTGACATCGCTGGAAGTTCACAATGAAATGAATGAG
GTCTCAGGCGGCATTGGCGATACCAGGAATTCAGCAATATCCTTTGACAACTCAGGAATC
CAGTACAGGAAACAGAGCATGCCTCGAGAAGGGCATGGGCGATTCCTGGGGGACAGAAGC
CTCCCGCACAAGAAGACCCATCTACGGAGGAGGTCTTCACAGCTCAAAATTAAAATACCT
GATCTAACCGATGTGAATGCCATAGACAGATGGTCCAGGATCGTGTTTCCATTCACTTTT
TCTCTTTTCAACTTAGTTTACTGGCTGTACTATGTTAACTGA
|
| Enzyme 26 GenBank Gene ID |
M82919  |
| Enzyme 26 GeneCard ID |
GABRB3  |
| Enzyme 26 GenAtlas ID |
GABRB3  |
| Enzyme 26 HGNC ID |
HGNC:4083  |
| Enzyme 26 Chromosome Location |
1 |
| Enzyme 26 Locus |
15q11.2-q12 |
| Enzyme 26 SNPs |
SNPJam Report  |
| Enzyme 26 General References |
- Wagstaff J, Chaillet JR, Lalande M: The GABAA receptor beta 3 subunit gene: characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7. Genomics. 1991 Dec;11(4):1071-8. [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
]
- Kirkness EF, Fraser CM: A strong promoter element is located between alternative exons of a gene encoding the human gamma-aminobutyric acid-type A receptor beta 3 subunit (GABRB3). J Biol Chem. 1993 Feb 25;268(6):4420-8. [PubMed
]
- Wagstaff J, Knoll JH, Fleming J, Kirkness EF, Martin-Gallardo A, Greenberg F, Graham JM Jr, Menninger J, Ward D, Venter JC, et al.: Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15. Am J Hum Genet. 1991 Aug;49(2):330-7. [PubMed
]
- Buhr A, Bianchi MT, Baur R, Courtet P, Pignay V, Boulenger JP, Gallati S, Hinkle DJ, Macdonald RL, Sigel E: Functional characterization of the new human GABA(A) receptor mutation beta3(R192H). Hum Genet. 2002 Aug;111(2):154-60. Epub 2002 Jul 16. [PubMed
]
- Tanaka M, Olsen RW, Medina MT, Schwartz E, Alonso ME, Duron RM, Castro-Ortega R, Martinez-Juarez IE, Pascual-Castroviejo I, Machado-Salas J, Silva R, Bailey JN, Bai D, Ochoa A, Jara-Prado A, Pineda G, Macdonald RL, Delgado-Escueta AV: Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. Am J Hum Genet. 2008 Jun;82(6):1249-61. [PubMed
]
|
| Enzyme 26 Metabolite References |
Not Available |
|
Enzyme 27
[top]
|
| Enzyme 27 ID |
13918 |
| Enzyme 27 Name |
Gamma-aminobutyric acid receptor subunit delta |
| Enzyme 27 Synonyms |
- GABA(A) receptor subunit delta
|
| Enzyme 27 Gene Name |
GABRD |
| Enzyme 27 Protein Sequence |
>Gamma-aminobutyric acid receptor subunit delta
MDAPARLLAPLLLLCAQQLRGTRAMNDIGDYVGSNLEISWLPNLDGLIAGYARNFRPGIG
GPPVNVALALEVASIDHISEANMEYTMTVFLHQSWRDSRLSYNHTNETLGLDSRFVDKLW
LPDTFIVNAKSAWFHDVTVENKLIRLQPDGVILYSIRITSTVACDMDLAKYPMDEQECML
DLESYGYSSEDIVYYWSESQEHIHGLDKLQLAQFTITSYRFTTELMNFKSAGQFPRLSLH
FHLRRNRGVYIIQSYMPSVLLVAMSWVSFWISQAAVPARVSLGITTVLTMTTLMVSARSS
LPRASAIKALDVYFWICYVFVFAALVEYAFAHFNADYRKKQKAKVKVSRPRAEMDVRNAI
VLFSLSAAGVTQELAISRRQRRVPGNLMGSYRSVGVETGETKKEGAARSGGQGGIRARLR
PIDADTIDIYARAVFPAAFAAVNVIYWAAYAM
|
| Enzyme 27 Number of Residues |
452 |
| Enzyme 27 Molecular Weight |
50707.8 |
| Enzyme 27 Theoretical pI |
8.73 |
| Enzyme 27 GO Classification |
| Function |
- GABA receptor activity
- GABA-A receptor activity
- extracellular ligand-gated ion channel activity
- ion channel activity
- ion transmembrane transporter activity
- ligand-gated ion channel activity
- molecular transducer activity
- receptor activity
- signal transducer activity
- substrate-specific transmembrane transporter activity
- transmembrane receptor activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- ion transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
- postsynaptic membrane
|
|
| Enzyme 27 General Function |
Involved in ion transport |
| Enzyme 27 Specific Function |
GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel |
| Enzyme 27 Pathways |
Not Available |
| Enzyme 27 Reactions |
Not Available |
| Enzyme 27 Pfam Domain Function |
|
| Enzyme 27 Signals |
|
| Enzyme 27 Transmembrane Regions |
- 249-271
275-297
309-331
430-452
|
| Enzyme 27 Essentiality |
Not Available |
| Enzyme 27 GenBank ID Protein |
2388693  |
| Enzyme 27 UniProtKB/Swiss-Prot ID |
O14764  |
| Enzyme 27 UniProtKB/Swiss-Prot Entry Name |
GBRD_HUMAN  |
| Enzyme 27 PDB ID |
Not Available |
| Enzyme 27 Cellular Location |
Not Available |
| Enzyme 27 Gene Sequence |
>1359 bp
ATGGACGCGCCCGCCCGGCTGCTGGCCCCGCTCCTGCTCCTCTGCGCGCAGCAGCTCCGC
GGCACCAGAGCGATGAATGACATCGGCGACTACGTGGGCTCCAACCTGGAGATCTCCTGG
CTCCCCAACCTGGACGGGCTGATAGCCGGCTACGCCCGCAACTTCCGGCCTGGCATCGGA
GGCCCCCCCGTGAATGTGGCCCTTGCCCTGGAGGTGGCCAGCATCGACCACATCTCAGAG
GCCAACATGGAGTACACCATGACGGTGTTCCTGCACCAGAGCTGGCGGGACAGCAGGCTC
TCCTACAACCACACCAACGAGACCCTGGGCCTGGACAGCCGCTTCGTGGACAAGCTGTGG
CTGCCCGACACCTTCATCGTGAACGCCAAGTCGGCCTGGTTCCACGACGTGACGGTGGAG
AACAAGCTCATCCGGCTGCAGCCCGACGGCGTGATCCTGTACAGCATCCGAATCACCTCC
ACTGTGGCCTGCGACATGGACCTGGCCAAATACCCCATGGACGAGCAGGAGTGCATGCTG
GACCTGGAGAGCTACGGTTACTCATCGGAGGACATCGTCTACTACTGGTCGGAGAGCCAG
GAGCACATCCACGGGCTGGACAAGCTGCAGCTGGCGCAGTTCACCATCACCAGCTACCAC
TTCACCACGGAGCTGATGAACTTCAAGTCCGCTGGCCAGTTCCCACGGCTCAGCCTGCAC
TTCCACCTGCGGAGGAACCGCGGCGTGTACATCATCCAATCCTACATGCCCTCCGTCCTG
CTGGTCGCCATGTCCTGGGTCTCCTTCTGGATCAGCCAGGCGGCGGTGCCCGCCAGGGTG
TCTCTAGGCATCACCACGGTGCTGACGATGACCACGCTCATGGTCAGTGCCCGCTCCTCC
CTGCCACGGGCATCAGCCATCAAGGCACTGGACGTCTACTTCTGGATCTGCTATGTCTTC
GTGTTTGCCGCCCTGGTGGAGTACGCCTTTGCTCATTTCAACGCCGACTACAGGAAGAAG
CAGAAGGCCAAGGTCAAGGTCTCCAGGCCGAGGGCAGAGATGGACGTGAGGAACGCCATT
GTCCTCTTCTCCCTCTCTGCTGCCGGCGTCACGCAGGAGCTGGCCATCTCCCGCCGGCAG
CGCCGCGTCCCGGGGAACCTGATGGGCTCCTACAGGTCGGTGGGGGTGGAGACAGGGGAG
ACGAAGAAGGAGGGGGCAGCCCGCTCAGGAGGCCAGGGGGGCATCCGTGCCCGGCTCAGG
CCCATCGACGCAGACACCATTGACATTTACGCCCGCGCTGTGTTCCCTGCGGCGTTTGCG
GCCGTCAATGTCATCTACTGGGCGGCATACGCCATGTGA
|
| Enzyme 27 GenBank Gene ID |
AF016917  |
| Enzyme 27 GeneCard ID |
GABRD  |
| Enzyme 27 GenAtlas ID |
GABRD  |
| Enzyme 27 HGNC ID |
HGNC:4084  |
| Enzyme 27 Chromosome Location |
1 |
| Enzyme 27 Locus |
1p|1p36.3 |
| Enzyme 27 SNPs |
SNPJam Report  |
| Enzyme 27 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
]
- 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
]
- Dibbens LM, Feng HJ, Richards MC, Harkin LA, Hodgson BL, Scott D, Jenkins M, Petrou S, Sutherland GR, Scheffer IE, Berkovic SF, Macdonald RL, Mulley JC: GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies. Hum Mol Genet. 2004 Jul 1;13(13):1315-9. Epub 2004 Apr 28. [PubMed
]
|
| Enzyme 27 Metabolite References |
Not Available |
|
Enzyme 28
[top]
|
| Enzyme 28 ID |
13919 |
| Enzyme 28 Name |
Gamma-aminobutyric acid receptor subunit epsilon |
| Enzyme 28 Synonyms |
- GABA(A) receptor subunit epsilon
|
| Enzyme 28 Gene Name |
GABRE |
| Enzyme 28 Protein Sequence |
>Gamma-aminobutyric acid receptor subunit epsilon
MLSKVLPVLLGILLILQSRVEGPQTESKNEASSRDVVYGPQPQPLENQLLSEETKSTETE
TGSRVGKLPEASRILNTILSNYDHKLRPGIGEKPTVVTVEISVNSLGPLSILDMEYTIDI
IFSQTWYDERLCYNDTFESLVLNGNVVSQLWIPDTFFRNSKRTHEHEITMPNQMVRIYKD
GKVLYTIRMTIDAGCSLHMLRFPMDSHSCPLSFSSFSYPENEMIYKWENFKLEINEKNSW
KLFQFDFTGVSNKTEIITTPVGDFMVMTIFFNVSRRFGYVAFQNYVPSSVTTMLSWVSFW
IKTESAPARTSLGITSVLTMTTLGTFSRKNFPRVSYITALDFYIAICFVFCFCALLEFAV
LNFLIYNQTKAHASPKLRHPRINSRAHARTRARSRACARQHQEAFVCQIVTTEGSDGEER
PSCSAQQPPSPGSPEGPRSLCSKLACCEWCKRFKKYFCMVPDCEGSTWQQGRLCIHVYRL
DNYSRVVFPVTFFFFNVLYWLVCLNL
|
| Enzyme 28 Number of Residues |
506 |
| Enzyme 28 Molecular Weight |
57971.2 |
| Enzyme 28 Theoretical pI |
8.09 |
| Enzyme 28 GO Classification |
| Function |
- GABA receptor activity
- GABA-A receptor activity
- extracellular ligand-gated ion channel activity
- ion channel activity
- ion transmembrane transporter activity
- ligand-gated ion channel activity
- molecular transducer activity
- receptor activity
- signal transducer activity
- substrate-specific transmembrane transporter activity
- transmembrane receptor activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- ion transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
- postsynaptic membrane
|
|
| Enzyme 28 General Function |
Involved in ion transport |
| Enzyme 28 Specific Function |
GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel |
| Enzyme 28 Pathways |
Not Available |
| Enzyme 28 Reactions |
Not Available |
| Enzyme 28 Pfam Domain Function |
|
| Enzyme 28 Signals |
|
| Enzyme 28 Transmembrane Regions |
- 254-274
281-301
344-364
486-506
|
| Enzyme 28 Essentiality |
Not Available |
| Enzyme 28 GenBank ID Protein |
1857126  |
| Enzyme 28 UniProtKB/Swiss-Prot ID |
P78334  |
| Enzyme 28 UniProtKB/Swiss-Prot Entry Name |
GBRE_HUMAN  |
| Enzyme 28 PDB ID |
Not Available |
| Enzyme 28 Cellular Location |
Not Available |
| Enzyme 28 Gene Sequence |
>1521 bp
ATGTTGTCCAAAGTTCTTCCAGTCCTCCTAGGCATCTTATTGATCCTCCAGTCGAGGGTC
GAGGGACCTCAGACTGAATCAAAGAATGAAGCCTCTTCCCGTGATGTTGTCTATGGCCCC
CAGCCCCAGCCTCTGGAAAATCAGCTCCTCTCTGAGGAAACAAAGTCAACTGAGACTGAG
ACTGGGAGCAGAGTTGGCAAACTGCCAGAAGCCTCTCGCATCCTGAACACTATCCTGAGT
AATTATGACCACAAACTGCGCCCTGGCATTGGAGAGAAGCCCACTGTGGTCACTGTTGAG
ATCGCCGTCAACAGCCTTGGTCCTCTCTCTATCCTAGACATGGAATACACCATTGACATC
ATCTTCTCCCAGACCTGGTACGACGAACGCCTCTGTTACAACGACACCTTTGAGTCTCTT
GTTCTGAATGGCAATGTGGTGAGCCAGCTATGGATCCCGGACACCTTTTTTAGGAATTCT
AAGAGGACCCACGAGCATGAGATCACCATGCCCAACCAGATGGTCCGCATCTACAAGGAT
GGCAAGGTGTTGTACACAATTAGGATGACCATTGATGCCGGATGCTCACTCCACATGCTC
AGATTTCCAATGGATTCTCACTCTTGCCCTCTATCTTTCTCTAGCTTTTCCTATCCTGAG
AATGAGATGATCTACAAGTGGGAAAATTTCAAGCTTGAAATCAATGAGAAGAACTCCTGG
AAGCTCTTCCAGTTTGATTTTACAGGAGTGAGCAACAAAACTGAAATAATCACAACCCCA
GTTGGTGACTTCATGGTCATGACGATTTTCTTCAATGTGAGCAGGCGGTTTGGCTATGTT
GCCTTTCAAAACTATGTCCCTTCTTCCGTGACCACGATGCTCTCCTGGGTTTCCTTTTGG
ATCAAGACAGAGTCTGCTCCAGCCCGGACCTCTCTAGGGATCACCTCTGTTCTGACCATG
ACCACGTTGGGCACCTTTTCTCGTAAGAATTTCCCGCGTGTCTCCTATATCACAGCCTTG
GATTTCTATATCGCCATCTGCTTCGTCTTCTGCTTCTGCGCTCTGTTGGAGTTTGCTGTG
CTCAACTTCCTGATCTACAACCAGACAAAAGCCCATGCTTCTCCTAAACTCCGCCATCCT
CGTATCAATAGCCGTGCCCATGCCCGTACCCGTGCACGTTCCCGAGCCTGTGCCCGCCAA
CATCAGGAAGCTTTTGTGTGCCAGATTGTCACCACTGAGGGAAGTGATGGAGAGGAGCGC
CCGTCTTGCTCAGCCCAGCAGCCCCCTAGCCCAGGTAGCCCTGAGGGTCCCCGCAGCCTC
TGCTCCAAGCTGGCCTGCTGTGAGTGGTGCAAGCGTTTTAAGAAGTACTTCTGCATGGTC
CCCGATTGTGAGGGCAGTACCTGGCAGCAGGGCCGCCTCTGCATCCATGTCTACCGCCTG
GATAACTACTCGAGAGTTGTTTTCCCAGTGACTTTCTTCTTCTTCAATGTGCTCTACTGG
CTTGTTTGCCTTAACTTGTAG
|
| Enzyme 28 GenBank Gene ID |
U66661  |
| Enzyme 28 GeneCard ID |
GABRE  |
| Enzyme 28 GenAtlas ID |
GABRE  |
| Enzyme 28 HGNC ID |
HGNC:4085  |
| Enzyme 28 Chromosome Location |
Not Available |
| Enzyme 28 Locus |
Not Available |
| Enzyme 28 SNPs |
SNPJam Report  |
| Enzyme 28 General References |
- Davies PA, Hanna MC, Hales TG, Kirkness EF: Insensitivity to anaesthetic agents conferred by a class of GABA(A) receptor subunit. Nature. 1997 Feb 27;385(6619):820-3. [PubMed
]
- Wilke K, Gaul R, Klauck SM, Poustka A: A gene in human chromosome band Xq28 (GABRE) defines a putative new subunit class of the GABAA neurotransmitter receptor. Genomics. 1997 Oct 1;45(1):1-10. [PubMed
]
- Garret M, Bascles L, Boue-Grabot E, Sartor P, Charron G, Bloch B, Margolskee RF: An mRNA encoding a putative GABA-gated chloride channel is expressed in the human cardiac conduction system. J Neurochem. 1997 Apr;68(4):1382-9. [PubMed
]
|
| Enzyme 28 Metabolite References |
Not Available |
|
Enzyme 29
[top]
|
| Enzyme 29 ID |
13920 |
| Enzyme 29 Name |
Gamma-aminobutyric acid receptor subunit gamma-1 |
| Enzyme 29 Synonyms |
- GABA(A) receptor subunit gamma-1
|
| Enzyme 29 Gene Name |
GABRG1 |
| Enzyme 29 Protein Sequence |
>Gamma-aminobutyric acid receptor subunit gamma-1
MGPLKAFLFSPFLLRSQSRGVRLVFLLLTLHLGNCVDKADDEDDEDLTVNKTWVLAPKIH
EGDITQILNSLLQGYDNKLRPDIGVRPTVIETDVYVNSIGPVDPINMEYTIDIIFAQTWF
DSRLKFNSTMKVLMLNSNMVGKIWIPDTFFRNSRKSDAHWITTPNRLLRIWNDGRVLYTL
RLTINAECYLQLHNFPMDEHSCPLEFSSYGYPKNEIEYKWKKPSVEVADPKYWRLYQFAF
VGLRNSTEITHTISGDYVIMTIFFDLSRRMGYFTIQTYIPCILTVVLSWVSFWINKDAVP
ARTSLGITTVLTMTTLSTIARKSLPKVSYVTAMDLFVSVCFIFVFAALMEYGTLHYFTSN
QKGKTATKDRKLKNKASMTPGLHPGSTLIPMNNISVPQEDDYGYQCLEGKDCASFFCCFE
DCRTGSWREGRIHIRIAKIDSYSRIFFPTAFALFNLVYWVGYLYL
|
| Enzyme 29 Number of Residues |
465 |
| Enzyme 29 Molecular Weight |
53594.5 |
| Enzyme 29 Theoretical pI |
8.23 |
| Enzyme 29 GO Classification |
| Function |
- GABA receptor activity
- GABA-A receptor activity
- extracellular ligand-gated ion channel activity
- ion channel activity
- ion transmembrane transporter activity
- ligand-gated ion channel activity
- molecular transducer activity
- receptor activity
- signal transducer activity
- substrate-specific transmembrane transporter activity
- transmembrane receptor activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- G-protein coupled receptor protein signaling pathway
- anion transport
- cell surface receptor linked signaling pathway
- chloride transport
- establishment of localization
- gamma-aminobutyric acid signaling pathway
- inorganic anion transport
- ion transport
- signaling
- signaling pathway
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
- postsynaptic membrane
|
|
| Enzyme 29 General Function |
Involved in ion transport |
| Enzyme 29 Specific Function |
GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel |
| Enzyme 29 Pathways |
Not Available |
| Enzyme 29 Reactions |
Not Available |
| Enzyme 29 Pfam Domain Function |
|
| Enzyme 29 Signals |
|
| Enzyme 29 Transmembrane Regions |
- 273-294
299-320
332-354
445-465
|
| Enzyme 29 Essentiality |
Not Available |
| Enzyme 29 GenBank ID Protein |
Not Available |
| Enzyme 29 UniProtKB/Swiss-Prot ID |
Q8N1C3  |
| Enzyme 29 UniProtKB/Swiss-Prot Entry Name |
GBRG1_HUMAN  |
| Enzyme 29 PDB ID |
Not Available |
| Enzyme 29 Cellular Location |
Not Available |
| Enzyme 29 Gene Sequence |
>1398 bp
ATGGGTCCTTTGAAAGCTTTTCTCTTCTCCCCTTTTCTTCTGCGGAGTCAAAGTAGAGGG
GTGAGGTTGGTCTTCTTGTTACTGACCCTGCATTTGGGAAACTGTGTTGATAAGGCAGAT
GATGAAGATGATGAGGATTTAACGGTGAACAAAACCTGGGTCTTGGCCCCAAAAATTCAT
GAAGGAGATATCACACAAATTCTGAATTCATTGCTTCAAGGCTATGACAATAAACTTCGT
CCAGATATAGGAGTGAGGCCCACAGTAATTGAAACTGATGTTTATGTAAACAGCATTGGA
CCAGTTGATCCAATTAATATGGAATATACAATAGATATAATTTTTGCCCAAACCTGGTTT
GACAGTCGTTTAAAATTCAATAGTACCATGAAAGTGCTTATGCTTAACAGTAATATGGTT
GGAAAAATTTGGATTCCTGACACTTTCTTCAGAAACTCAAGAAAATCTGATGCTCACTGG
ATAACAACTCCTAATCGTCTGCTTCGAATTTGGAATGATGGACGAGTTCTGTATACTCTA
AGATTGACAATTAATGCAGAATGTTATCTTCAGCTTCATAACTTTCCCATGGATGAACAT
TCCTGTCCACTGGAATTTTCAAGCTATGGATACCCTAAAAATGAAATTGAGTATAAGTGG
AAAAAGCCCTCCGTAGAAGTGGCTGATCCTAAATACTGGAGATTATATCAGTTTGCATTT
GTAGGGTTACGGAACTCAACTGAAATCACTCACACGATCTCTGGGGATTATGTTATCATG
ACAATTTTTTTTGACCTGAGCAGAAGAATGGGATATTTCACTATTCAGACCTACATTCCA
TGCATTCTGACAGTTGTTCTTTCTTGGGTGTCTTTTTGGATCAATAAAGATGCAGTGCCT
GCAAGAACATCGTTGGGTATCACTACAGTTCTGACTATGACAACCCTGAGTACAATTGCC
AGGAAGTCTTTACCTAAGGTTTCTTATGTGACTGCGATGGATCTCTTTGTTTCTGTTTGT
TTCATTTTTGTTTTTGCAGCCTTGATGGAATATGGAACCTTGCATTATTTTACCAGCAAC
CAAAAAGGAAAGACTGCTACTAAAGACAGAAAGCTAAAAAATAAAGCCTCGATGACTCCT
GGTCTCCATCCTGGATCCACTCTGATTCCAATGAATAATATTTCTGTGCCGCAAGAAGAT
GATTATGGGTATCAGTGTTTGGAGGGCAAAGATTGTGCCAGCTTCTTCTGTTGCTTTGAA
GACTGCAGAACAGGATCTTGGAGGGAAGGAAGGATACACATACGCATTGCCAAAATTGAC
TCTTATTCTAGAATATTTTTCCCAACCGCTTTTGCCCTGTTCAACTTGGTTTATTGGGTT
GGCTATCTTTACTTATAA
|
| Enzyme 29 GenBank Gene ID |
AK122845  |
| Enzyme 29 GeneCard ID |
GABRG1  |
| Enzyme 29 GenAtlas ID |
GABRG1  |
| Enzyme 29 HGNC ID |
HGNC:4086  |
| Enzyme 29 Chromosome Location |
4 |
| Enzyme 29 Locus |
4p12 |
| Enzyme 29 SNPs |
SNPJam Report  |
| Enzyme 29 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
]
- 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
]
|
| Enzyme 29 Metabolite References |
Not Available |
|
Enzyme 30
[top]
|
| Enzyme 30 ID |
13921 |
| Enzyme 30 Name |
Gamma-aminobutyric acid receptor subunit gamma-3 |
| Enzyme 30 Synonyms |
- GABA(A) receptor subunit gamma-3
|
| Enzyme 30 Gene Name |
GABRG3 |
| Enzyme 30 Protein Sequence |
>Gamma-aminobutyric acid receptor subunit gamma-3
MAPKLLLLLCLFSGLHARSRKVEEDEYEDSSSNQKWVLAPKSQDTDVTLILNKLLREYDK
KLRPDIGIKPTVIDVDIYVNSIGPVSSINMEYQIDIFFAQTWTDSRLRFNSTMKILTLNS
NMVGLIWIPDTIFRNSKTAEAHWITTPNQLLRIWNDGKILYTLRLTINAECQLQLHNFPM
DEHSCPLIFSSYGYPKEEMIYRWRKNSVEAADQKSWRLYQFDFMGLRNTTEIVTTSAGDY
VVMTIYFELSRRMGYFTIQTYIPCILTVVLSWVSFWIKKDATPARTALGITTVLTMTTLS
TIARKSLPRVSYVTAMDLFVTVCFLFVFAALMEYATLNYYSSCRKPTTTKKTTSLLHPDS
SRWIPERISLQAPSNYSLLDMRPPPTAMITLNNSVYWQEFEDTCVYECLDGKDCQSFFCC
YEECKSGSWRKGRIHIDILELDSYSRVFFPTSFLLFNLVYWVGYLYL
|
| Enzyme 30 Number of Residues |
467 |
| Enzyme 30 Molecular Weight |
54288.2 |
| Enzyme 30 Theoretical pI |
7.58 |
| Enzyme 30 GO Classification |
| Function |
- GABA receptor activity
- GABA-A receptor activity
- extracellular ligand-gated ion channel activity
- ion channel activity
- ion transmembrane transporter activity
- ligand-gated ion channel activity
- molecular transducer activity
- receptor activity
- signal transducer activity
- substrate-specific transmembrane transporter activity
- transmembrane receptor activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- G-protein coupled receptor protein signaling pathway
- anion transport
- cell surface receptor linked signaling pathway
- chloride transport
- establishment of localization
- gamma-aminobutyric acid signaling pathway
- inorganic anion transport
- ion transport
- signaling
- signaling pathway
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
- postsynaptic membrane
|
|
| Enzyme 30 General Function |
Involved in ion transport |
| Enzyme 30 Specific Function |
GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel |
| Enzyme 30 Pathways |
Not Available |
| Enzyme 30 Reactions |
Not Available |
| Enzyme 30 Pfam Domain Function |
|
| Enzyme 30 Signals |
|
| Enzyme 30 Transmembrane Regions |
- 255-277
281-303
315-337
444-467
|
| Enzyme 30 Essentiality |
Not Available |
| Enzyme 30 GenBank ID Protein |
110347416  |
| Enzyme 30 UniProtKB/Swiss-Prot ID |
Q99928  |
| Enzyme 30 UniProtKB/Swiss-Prot Entry Name |
GBRG3_HUMAN  |
| Enzyme 30 PDB ID |
Not Available |
| Enzyme 30 Cellular Location |
Not Available |
| Enzyme 30 Gene Sequence |
>1404 bp
ATGGCCCCGAAGCTGCTGCTCCTCCTCTGCCTGTTCTCGGGCTTGCACGCGCGGTCCAGA
AAGGTGGAAGAGGATGAATATGAAGATTCATCATCAAACCAAAAGTGGGTCTTGGCTCCA
AAATCCCAAGACACCGACGTGACTCTTATTCTCAACAAGTTGCTAAGAGAATATGATAAA
AAGCTGAGGCCAGATATTGGAATAAAACCGACCGTAATTGACGTTGACATTTATGTTAAC
AGCATTGGTCCTGTGTCATCAATAAACATGGAATACCAAATTGACATATTTTTTGCTCAG
ACCTGGACAGATAGTCGCCTTCGATTCAACAGCACAATGAAAATTCTTACTCTGAACAGC
AACATGGTGGGGTTAATCTGGATCCCAGACACCATCTTCCGCAATTCTAAAACCGCAGAG
GCTCACTGGATCACCACACCCAATCAGCTCCTCCGGATTTGGAATGACGGGAAAATCCTT
TACACTTTGAGGCTCACCATCAATGCTGAGTGCCAGCTGCAGCTGCACAACTTCCCCATG
GACGAACACTCCTGCCCGCTGATTTTCTCCAGCTATGGCTATCCCAAAGAAGAAATGATT
TATAGATGGAGAAAAAATTCAGTGGAGGCAGCTGACCAGAAATCATGGCGGCTTTATCAG
TTTGACTTCATGGGCCTCAGAAACACCACAGAAATCGTGACAACGTCTGCAGGTGATTAT
GTTGTCATGACTATATATTTTGAATTGAGTAGAAGAATGGGATACTTCACCATTCAGACA
TACATTCCCTGTATACTGACTGTGGTTTTATCCTGGGTGTCATTTTGGATCAAAAAAGAT
GCTACGCCAGCAAGAACAGCATTAGGCATCACCACGGTGCTGACCATGACCACCCTGAGC
ACCATCGCCAGGAAGTCCTTGCCACGCGTGTCCTACGTGACCGCCATGGACCTTTTTGTG
ACCGTGTGCTTCCTGTTTGTCTTCGCCGCGCTGATGGAGTATGCCACCCTCAACTACTAT
TCCAGCTGTAGAAAACCAACCACCACGAAGAAGACAACATCGTTACTACATCCAGATTCC
TCAAGATGGATTCCTGAGCGAATAAGCCTACAAGCCCCTTCCAACTATTCCCTCCTGGAC
ATGAGGCCACCACCAACTGCGATGATCACTTTAAACAATTCCGTTTACTGGCAGGAATTT
GAAGATACCTGTGTCTATGAGTGTCTGGATGGCAAAGACTGTCAGAGCTTCTTCTGCTGC
TATGAAGAATGTAAATCAGGATCCTGGAGGAAAGGGCGTATTCACATAGACATCTTGGAG
CTGGACTCGTACTCCCGGGTCTTTTTCCCCACGTCCTTCCTGCTCTTTAACCTGGTCTAC
TGGGTTGGATACCTGTATCTCTAA
|
| Enzyme 30 GenBank Gene ID |
NM_033223.4  |
| Enzyme 30 GeneCard ID |
GABRG3  |
| Enzyme 30 GenAtlas ID |
GABRG3  |
| Enzyme 30 HGNC ID |
HGNC:4088  |
| Enzyme 30 Chromosome Location |
1 |
| Enzyme 30 Locus |
15q12 |
| Enzyme 30 SNPs |
SNPJam Report  |
| Enzyme 30 General References |
- Hadingham KL, Wafford KA, Thompson SA, Palmer KJ, Whiting PJ: Expression and pharmacology of human GABAA receptors containing gamma 3 subunits. Eur J Pharmacol. 1995 Nov 30;291(3):301-9. [PubMed
]
|
| Enzyme 30 Metabolite References |
Not Available |
|
Enzyme 31
[top]
|
| Enzyme 31 ID |
13922 |
| Enzyme 31 Name |
Gamma-aminobutyric acid receptor subunit pi |
| Enzyme 31 Synonyms |
- GABA(A) receptor subunit pi
|
| Enzyme 31 Gene Name |
GABRP |
| Enzyme 31 Protein Sequence |
>Gamma-aminobutyric acid receptor subunit pi
MNYSLHLAFVCLSLFTERMCIQGSQFNVEVGRSDKLSLPGFENLTAGYNKFLRPNFGGEP
VQIALTLDIASISSISESNMDYTATIYLRQRWMDQRLVFEGNKSFTLDARLVEFLWVPDT
YIVESKKSFLHEVTVGNRLIRLFSNGTVLYALRITTTVACNMDLSKYPMDTQTCKLQLES
WGYDGNDVEFTWLRGNDSVRGLEHLRLAQYTIERYFTLVTRSQQETGNYTRLVLQFELRR
NVLYFILETYVPSTFLVVLSWVSFWISLDSVPARTCIGVTTVLSMTTLMIGSRTSLPNTN
CFIKAIDVYLGICFSFVFGALLEYAVAHYSSLQQMAAKDRGTTKEVEEVSITNIINSSIS
SFKRKISFASIEISSDNVDYSDLTMKTSDKFKFVFREKMGRIVDYFTIQNPSNVDHYSKL
LFPLIFMLANVFYWAYYMYF
|
| Enzyme 31 Number of Residues |
440 |
| Enzyme 31 Molecular Weight |
50639.7 |
| Enzyme 31 Theoretical pI |
6.99 |
| Enzyme 31 GO Classification |
| Function |
- GABA receptor activity
- GABA-A receptor activity
- extracellular ligand-gated ion channel activity
- ion channel activity
- ion transmembrane transporter activity
- ligand-gated ion channel activity
- molecular transducer activity
- receptor activity
- signal transducer activity
- substrate-specific transmembrane transporter activity
- transmembrane receptor activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- ion transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
- postsynaptic membrane
|
|
| Enzyme 31 General Function |
Involved in ion transport |
| Enzyme 31 Specific Function |
GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. In the uterus, the function of the receptor appears to be related to tissue contractility. The binding of this pI subunit with other GABA(A) receptor subunits alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone |
| Enzyme 31 Pathways |
Not Available |
| Enzyme 31 Reactions |
Not Available |
| Enzyme 31 Pfam Domain Function |
|
| Enzyme 31 Signals |
|
| Enzyme 31 Transmembrane Regions |
- 243-266
270-292
305-327
417-438
|
| Enzyme 31 Essentiality |
Not Available |
| Enzyme 31 GenBank ID Protein |
Not Available |
| Enzyme 31 UniProtKB/Swiss-Prot ID |
O00591  |
| Enzyme 31 UniProtKB/Swiss-Prot Entry Name |
GBRP_HUMAN  |
| Enzyme 31 PDB ID |
Not Available |
| Enzyme 31 Cellular Location |
Not Available |
| Enzyme 31 Gene Sequence |
>1323 bp
ATGAACTACAGCCTCCACTTGGCCTTCGTGTGTCTGAGTCTCTTCACTGAGAGGATGTGC
ATCCAGGGGAGTCAGTTCAACGTCGAGGTCGGCAGAAGTGACAAGCTTTCCCTGCCTGGC
TTTGAGAACCTCACAGCAGGATATAACAAATTTCTCAGGCCCAATTTTGGTGGAGAACCC
GTACAGATAGCGCTGACTCTGGACATTGCAAGTATCTCTAGCATTTCAGAGAGTAACATG
GACTACACAGCCACCATATACCTCCGACAGCGCTGGATGGACCAGCGGCTGGTGTTTGAA
GGCAACAAGAGCTTCACTCTGGATGCCCGCCTCGTGGAGTTCCTCTGGGTGCCAGATACT
TACATTGTGGAGTCCAAGAAGTCCTTCCTCCATGAAGTCACTGTGGGAAACAGGCTCATC
CGCCTCTTCTCCAATGGCACGGTCCTGTATGCCCTCAGAATCACGACAACTGTTGCATGT
AACATGGATCTGTCTAAATACCCCATGGACACACAGACATGCAAGTTGCAGCTGGAAAGC
TGGGGCTATGATGGAAATGATGTGGAGTTCACCTGGCTGAGAGGGAACGACTCTGTGCGT
GGACTGGAACACCTGCGGCTTGCTCAGTACACCATAGAGCGGTATTTCACCTTAGTCACC
AGATCGCAGCAGGAGACAGGAAATTACACTAGATTGGTCTTACAGTTTGAGCTTCGGAGG
AATGTTCTGTATTTCATTTTGGAAACCTACGTTCCTTCCACTTTCCTGGTGGTGTTGTCC
TGGGTTTCATTTTGGATCTCTCTCGATTCAGTCCCTGCAAGAACCTGCATTGGAGTGACG
ACCGTGTTATCAATGACCACACTGATGATCGGGTCCCGCACTTCTCTTCCCAACACCAAC
TGCTTCATCAAGGCCATCGATGTGTACCTGGGGATCTGCTTTAGCTTTGTGTTTGGGGCC
TTGCTAGAATATGCAGTTGCTCACTACAGTTCCTTACAGCAGATGGCAGCCAAAGATAGG
GGGACAACAAAGGAAGTAGAAGAAGTCAGTATTACTAATATCATCAACAGCTCCATCTCC
AGCTTTAAACGGAAGATCAGCTTTGCCAGCATTGAAATTTCCAGCGACAACGTTGACTAC
AGTGACTTGACAATGAAAACCAGCGACAAGTTCAAGTTTGTCTTCCGAGAAAAGATGGGC
AGGATTGTTGATTATTTCACAATTCAAAACCCCAGTAATGTTGATCACTATTCCAAACTA
CTGTTTCCTTTGATTTTTATGCTAGCCAATGTATTTTACTGGGCATACTACATGTATTTT
TGA
|
| Enzyme 31 GenBank Gene ID |
U95367  |
| Enzyme 31 GeneCard ID |
GABRP  |
| Enzyme 31 GenAtlas ID |
GABRP  |
| Enzyme 31 HGNC ID |
HGNC:4089  |
| Enzyme 31 Chromosome Location |
5 |
| Enzyme 31 Locus |
5q33-q34 |
| Enzyme 31 SNPs |
SNPJam Report  |
| Enzyme 31 General References |
- Hedblom E, Kirkness EF: A novel class of GABAA receptor subunit in tissues of the reproductive system. J Biol Chem. 1997 Jun 13;272(24):15346-50. [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
]
- 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 31 Metabolite References |
Not Available |
|
Enzyme 32
[top]
|
| Enzyme 32 ID |
13923 |
| Enzyme 32 Name |
Gamma-aminobutyric acid receptor subunit rho-1 |
| Enzyme 32 Synonyms |
- GABA(A) receptor subunit rho-1
- GABA(C) receptor
|
| Enzyme 32 Gene Name |
GABRR1 |
| Enzyme 32 Protein Sequence |
>Gamma-aminobutyric acid receptor subunit rho-1
MLAVPNMRFGIFLLWWGWVLATESRMHWPGREVHEMSKKGRPQRQRREVHEDAHKQVSPI
LRRSPDITKSPLTKSEQLLRIDDHDFSMRPGFGGPAIPVGVDVQVESLDSISEVDMDFTM
TLYLRHYWKDERLSFPSTNNLSMTFDGRLVKKIWVPDMFFVHSKRSFIHDTTTDNVMLRV
QPDGKVLYSLRVTVTAMCNMDFSRFPLDTQTCSLEIESYAYTEDDLMLYWKKGNDSLKTD
ERISLSQFLIQEFHTTTKLAFYSSTGWYNRLYINFTLRRHIFFFLLQTYFPATLMVMLSW
VSFWIDRRAVPARVPLGITTVLTMSTIITGVNASMPRVSYIKAVDIYLWVSFVFVFLSVL
EYAAVNYLTTVQERKEQKLREKLPCTSGLPPPRTAMLDGNYSDGEVNDLDNYMPENGEKP
DRMMVQLTLASERSSPQRKSQRSSYVSMRIDTHAIDKYSRIIFPAAYILFNLIYWSIFS
|
| Enzyme 32 Number of Residues |
479 |
| Enzyme 32 Molecular Weight |
55882.9 |
| Enzyme 32 Theoretical pI |
8.86 |
| Enzyme 32 GO Classification |
| Function |
- GABA receptor activity
- GABA-A receptor activity
- extracellular ligand-gated ion channel activity
- ion channel activity
- ion transmembrane transporter activity
- ligand-gated ion channel activity
- molecular transducer activity
- receptor activity
- signal transducer activity
- substrate-specific transmembrane transporter activity
- transmembrane receptor activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- ion transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
- postsynaptic membrane
|
|
| Enzyme 32 General Function |
Involved in ion transport |
| Enzyme 32 Specific Function |
GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. Rho-1 GABA receptor could play a role in retinal neurotransmission |
| Enzyme 32 Pathways |
Not Available |
| Enzyme 32 Reactions |
Not Available |
| Enzyme 32 Pfam Domain Function |
|
| Enzyme 32 Signals |
|
| Enzyme 32 Transmembrane Regions |
- 282-305
309-331
343-365
458-479
|
| Enzyme 32 Essentiality |
Not Available |
| Enzyme 32 GenBank ID Protein |
194097386  |
| Enzyme 32 UniProtKB/Swiss-Prot ID |
P24046  |
| Enzyme 32 UniProtKB/Swiss-Prot Entry Name |
GBRR1_HUMAN  |
| Enzyme 32 PDB ID |
Not Available |
| Enzyme 32 Cellular Location |
Not Available |
| Enzyme 32 Gene Sequence |
>1440 bp
ATGTTGGCTGTCCCAAATATGAGATTTGGCATCTTTCTTTTGTGGTGGGGATGGGTTTTG
GCCACTGAAAGCAGAATGCACTGGCCCGGAAGAGAAGTCCACGAGATGTCTAAGAAAGGC
AGGCCCCAAAGACAAAGACGAGAAGTACATGAAGATGCCCACAAGCAAGTCAGCCCAATT
CTGAGACGAAGTCCTGACATCACCAAATCGCCTCTGACAAAGTCAGAACAGCTTCTGAGG
ATAGATGACCATGATTTCAGCATGAGGCCTGGCTTTGGAGGCCCTGCCATTCCTGTTGGT
GTGGATGTGCAGGTGGAGAGTTTGGATAGCATCTCAGAGGTTGACATGGACTTTACGATG
ACCCTCTACCTGAGGCACTACTGGAAGGACGAGAGGCTGTCTTTTCCAAGCACCAACAAC
CTCAGCATGACGTTTGATGGCCGGCTGGTCAAGAAGATCTGGGTCCCTGACATGTTTTTC
GTGCACTCCAAACGCTCCTTCATCCACGACACCACCACAGACAACGTCATGTTGCGGGTC
CAGCCTGATGGGAAAGTGCTCTATAGTCTCAGGGTTACAGTAACTGCAATGTGCAACATG
GACTTCAGCCGATTTCCCTTGGACACACAAACGTGCTCTCTTGAAATTGAAAGCTATGCC
TATACAGAAGATGACCTCATGCTGTACTGGAAAAAGGGCAATGACTCCTTAAAGACAGAT
GAACGGATCTCACTCTCCCAGTTCCTCATTCAGGAATTCCACACCACCACCAAACTGGCT
TTCTACAGCAGCACAGGCTGGTACAACCGTCTCTACATTAATTTCACGTTGCGTCGCCAC
ATCTTCTTCTTCTTGCTCCAAACTTATTTCCCCGCTACCCTGATGGTCATGCTGTCCTGG
GTGTCCTTCTGGATCGACCGCAGAGCCGTGCCTGCCAGAGTCCCCTTAGGTATCACAACG
GTGCTGACCATGTCCACCATCATCACGGGCGTGAATGCCTCCATGCCGCGCGTCTCCTAC
ATCAAGGCCGTGGACATCTACCTCTGGGTCAGCTTTGTGTTCGTGTTCCTCTCGGTGCTG
GAGTATGCGGCCGTCAACTACCTGACCACTGTGCAGGAGAGGAAGGAACAGAAGCTGCGG
GAGAAGCTTCCCTGCACCAGCGGATTACCTCCGCCCCGCACTGCGATGCTGGACGGCAAC
TACAGTGATGGGGAGGTGAATGACCTGGACAACTACATGCCAGAGAATGGAGAGAAGCCC
GACAGGATGATGGTGCAGCTGACCCTGGCCTCAGAGAGGAGCTCCCCACAGAGGAAAAGT
CAGAGAAGCAGCTATGTGAGCATGAGAATCGACACCCACGCCATTGATAAATACTCCAGG
ATCATCTTTCCAGCAGCATACATTTTATTCAATTTAATATACTGGTCTATTTTCTCCTAG
|
| Enzyme 32 GenBank Gene ID |
NM_002042.3  |
| Enzyme 32 GeneCard ID |
GABRR1  |
| Enzyme 32 GenAtlas ID |
GABRR1  |
| Enzyme 32 HGNC ID |
HGNC:4090  |
| Enzyme 32 Chromosome Location |
6 |
| Enzyme 32 Locus |
6q14-q21|6q13-q16.3 |
| Enzyme 32 SNPs |
SNPJam Report  |
| Enzyme 32 General References |
- Cutting GR, Lu L, O'Hara BF, Kasch LM, Montrose-Rafizadeh C, Donovan DM, Shimada S, Antonarakis SE, Guggino WB, Uhl GR, et al.: Cloning of the gamma-aminobutyric acid (GABA) rho 1 cDNA: a GABA receptor subunit highly expressed in the retina. Proc Natl Acad Sci U S A. 1991 Apr 1;88(7):2673-7. [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
]
- 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 32 Metabolite References |
Not Available |
|
Enzyme 33
[top]
|
| Enzyme 33 ID |
13924 |
| Enzyme 33 Name |
Gamma-aminobutyric acid receptor subunit rho-2 |
| Enzyme 33 Synonyms |
- GABA(A) receptor subunit rho-2
- GABA(C) receptor
|
| Enzyme 33 Gene Name |
GABRR2 |
| Enzyme 33 Protein Sequence |
>Gamma-aminobutyric acid receptor subunit rho-2
MVKPGGICSATGYWKAAFCLTDVHKMPYFTRLILFLFCLMVLVESRKPKRKRWTGQVEMP
KPSHLYKKNLDVTKIRKGKPQQLLRVDEHDFSMRPAFGGPAIPVGVDVQVESLDSISEVD
MDFTMTLYLRHYWKDERLAFSSASNKSMTFDGRLVKKIWVPDVFFVHSKRSFTHDTTTDN
IMLRVFPDGHVLYSMRITVTAMCNMDFSHFPLDSQTCSLELESYAYTDEDLMLYWKNGDE
SLKTDEKISLSQFLIQKFHTTSRLAFYSSTGWYNRLYINFTLRRHIFFFLLQTYFPATLM
VMLSWVSFWIDRRAVPARVSLGITTVLTMTTIITGVNASMPRVSYVKAVDIYLWVSFVFV
FLSVLEYAAVNYLTTVQERKERKLREKFPCMCGMLHSKTMMLDGSYSESEANSLAGYPRS
HILTEEERQDKIVVHLGLSGEANAARKKGLLKGQTGFRIFQNTHAIDKYSRLIFPASYIF
FNLIYWSVFS
|
| Enzyme 33 Number of Residues |
490 |
| Enzyme 33 Molecular Weight |
56816.6 |
| Enzyme 33 Theoretical pI |
9.56 |
| Enzyme 33 GO Classification |
| Function |
- GABA receptor activity
- GABA-A receptor activity
- extracellular ligand-gated ion channel activity
- ion channel activity
- ion transmembrane transporter activity
- ligand-gated ion channel activity
- molecular transducer activity
- receptor activity
- signal transducer activity
- substrate-specific transmembrane transporter activity
- transmembrane receptor activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- ion transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
- postsynaptic membrane
|
|
| Enzyme 33 General Function |
Involved in ion transport |
| Enzyme 33 Specific Function |
GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. Rho-2 GABA receptor could play a role in retinal neurotransmission |
| Enzyme 33 Pathways |
Not Available |
| Enzyme 33 Reactions |
Not Available |
| Enzyme 33 Pfam Domain Function |
|
| Enzyme 33 Signals |
|
| Enzyme 33 Transmembrane Regions |
- 286-306
319-339
351-371
469-489
|
| Enzyme 33 Essentiality |
Not Available |
| Enzyme 33 GenBank ID Protein |
168984218  |
| Enzyme 33 UniProtKB/Swiss-Prot ID |
P28476  |
| Enzyme 33 UniProtKB/Swiss-Prot Entry Name |
GBRR2_HUMAN  |
| Enzyme 33 PDB ID |
Not Available |
| Enzyme 33 Cellular Location |
Not Available |
| Enzyme 33 Gene Sequence |
>1473 bp
ATGGTCAAGCCAGGGGGGATTTGCTCTGCCACAGGCTACTGGAAAGCAGCTTTTTGCCTC
ACAGATGTCCACAAAATGCCTTATTTTACAAGACTCATTTTGTTCTTGTTTTGCTTGATG
GTTCTCGTGGAGAGCAGAAAACCCAAGAGGAAGCGATGGACAGGGCAGGTGGAAATGCCC
AAGCCAAGTCACTTATATAAGAAGAACCTTGATGTGACCAAGATCCGGAAGGGAAAGCCT
CAGCAGCTTCTCAGAGTGGACGAGCACGACTTCAGCATGAGACCCGCCTTCGGAGGCCCT
GCCATCCCGGTGGGCGTGGACGTACAGGTGGAGAGCCTGGACAGCATCTCCGAGGTGGAC
ATGGACTTCACTATGACCCTGTACCTGCGGCATTACTGGAAGGATGAGAGGCTAGCTTTC
TCCAGCGCCAGCAACAAGAGCATGACCTTCGATGGCCGGCTGGTGAAGAAGATCTGGGTC
CCTGATGTCTTCTTTGTTCACTCCAAAAGATCGTTCACTCATGACACCACCACTGACAAC
ATCATGCTGAGGGTGTTCCCAGATGGACACGTGCTGTACAGCATGAGGATTACGGTCACT
GCCATGTGCAACATGGACTTCAGCCACTTTCCCCTGGACTCCCAGACCTGTTCTTTGGAG
CTGGAGAGCTATGCCTATACAGATGAAGATCTAATGCTGTACTGGAAGAATGGGGATGAA
TCCCTAAAAACAGATGAGAAGATCTCCTTGTCTCAGTTTCTGATTCAGAAATTTCACACA
ACTTCCAGGCTGGCCTTCTACAGCAGCACTGGCTGGTACAACCGTCTGTACATTAACTTC
ACGTTGCGTCGCCACATCTTCTTCTTCTTGCTCCAAACATATTTCCCTGCCACTCTGATG
GTCATGCTGTCCTGGGTGTCCTTCTGGATCGACCGCAGAGCTGTGCCTGCCAGAGTTTCA
CTGGGTATCACGACGGTGCTGACCATGACCACCATCATCACGGGCGTGAATGCCTCCATG
CCGCGCGTCTCCTACGTCAAGGCCGTGGACATCTACCTCTGGGTCAGCTTTGTGTTCGTG
TTCCTCTCGGTGCTGGAGTATGCGGCTGTCAACTACCTGACCACCGTGCAGGAGCGCAAG
GAACGGAAGCTGCGGGAGAAGTTCCCGTGCATGTGTGGAATGCTTCATTCAAAAACCATG
ATGCTGGATGGAAGCTACAGTGAGTCTGAGGCCAACAGCCTGGCTGGGTACCCCAGAAGC
CATATCCTGACAGAAGAAGAAAGGCAAGACAAAATAGTGGTCCACCTGGGCCTGAGTGGT
GAAGCCAACGCTGCCAGAAAGAAGGGGCTTCTGAAGGGCCAGACGGGTTTTCGTATCTTC
CAGAATACCCATGCCATTGACAAATACTCTAGGTTGATATTCCCTGCCTCCTACATATTT
TTCAACTTAATTTATTGGTCAGTGTTTTCCTAG
|
| Enzyme 33 GenBank Gene ID |
AL121833  |
| Enzyme 33 GeneCard ID |
GABRR2  |
| Enzyme 33 GenAtlas ID |
GABRR2  |
| Enzyme 33 HGNC ID |
HGNC:4091  |
| Enzyme 33 Chromosome Location |
6 |
| Enzyme 33 Locus |
6q14-q21|6q13-q16.3 |
| Enzyme 33 SNPs |
SNPJam Report  |
| Enzyme 33 General References |
- 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
]
- Cutting GR, Curristin S, Zoghbi H, O'Hara B, Seldin MF, Uhl GR: Identification of a putative gamma-aminobutyric acid (GABA) receptor subunit rho2 cDNA and colocalization of the genes encoding rho2 (GABRR2) and rho1 (GABRR1) to human chromosome 6q14-q21 and mouse chromosome 4. Genomics. 1992 Apr;12(4):801-6. [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 33 Metabolite References |
Not Available |
|
Enzyme 34
[top]
|
| Enzyme 34 ID |
13925 |
| Enzyme 34 Name |
Gamma-aminobutyric acid receptor subunit rho-3 |
| Enzyme 34 Synonyms |
- GABA(A) receptor subunit rho-3
- GABA(C) receptor
|
| Enzyme 34 Gene Name |
GABRR3 |
| Enzyme 34 Protein Sequence |
>Gamma-aminobutyric acid receptor subunit rho-3
MVLAFQLVSFTYIWIILKPNVCAASNIKMTHQRCSSSMKQTCKQETRMKKDDSTKARPQK
YEQLLHIEDNDFAMRPGFGGSPVPVGIDVHVESIDSISETNMDFTMTFYLRHYWKDERLS
FPSTANKSMTFDHRLTRKIWVPDIFFVHSKRSFIHDTTMENIMLRVHPDGNVLLSLRITV
SAMCFMDFSRFPLDTQNCSLELESYAYNEDDLMLYWKHGNKSLNTEEHMSLSQFFIEDFS
ASSGLAFYSSTGWYNRLFINFVLRRHVFFFVLQTYFPAILMVMLSWVSFWIDRRAVPARV
SLGITTVLTMSTIITAVSASMPQVSYLKAVDVYLWVSSLFVFLSVIEYAAVNYLTTVEER
KQFKKTGKISRMYNIDAVQAMAFDGCYHDSEIDMDQTSLSLNSEDFMRRKSICSPSTDSS
RIKRRKSLGGHVGRIILENNHVIDTYSRILFPIVYILFNLFYWGVYV
|
| Enzyme 34 Number of Residues |
467 |
| Enzyme 34 Molecular Weight |
54271.1 |
| Enzyme 34 Theoretical pI |
8.26 |
| Enzyme 34 GO Classification |
| Function |
- extracellular ligand-gated ion channel activity
- ion channel activity
- ion transmembrane transporter activity
- ligand-gated ion channel activity
- substrate-specific transmembrane transporter activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- ion transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
- postsynaptic membrane
|
|
| Enzyme 34 General Function |
Involved in ion transport |
| Enzyme 34 Specific Function |
GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel |
| Enzyme 34 Pathways |
Not Available |
| Enzyme 34 Reactions |
Not Available |
| Enzyme 34 Pfam Domain Function |
|
| Enzyme 34 Signals |
|
| Enzyme 34 Transmembrane Regions |
- 267-287
300-320
332-352
447-467
|
| Enzyme 34 Essentiality |
Not Available |
| Enzyme 34 GenBank ID Protein |
157743288  |
| Enzyme 34 UniProtKB/Swiss-Prot ID |
A8MPY1  |
| Enzyme 34 UniProtKB/Swiss-Prot Entry Name |
GBRR3_HUMAN  |
| Enzyme 34 PDB ID |
Not Available |
| Enzyme 34 Cellular Location |
Not Available |
| Enzyme 34 Gene Sequence |
>1404 bp
ATGGTCCTGGCTTTCCAGTTAGTCTCCTTCACCTACATCTGGATCATATTGAAACCAAAT
GTTTGTGCTGCTTCTAACATCAAGATGACACACCAGCGGTGCTCCTCTTCAATGAAACAA
ACCTGCAAACAAGAAACTAGAATGAAGAAAGATGACAGTACCAAAGCGCGGCCTCAGAAA
TATGAGCAACTTCTCCATATAGAGGACAACGATTTCGCAATGAGACCTGGATTTGGAGGG
TCTCCAGTGCCAGTAGGTATAGATGTCCATGTTGAAAGCATTGACAGCATTTCAGAGACT
AACATGGACTTTACAATGACTTTTTATCTCAGGCATTACTGGAAAGACGAGAGGCTCTCC
TTTCCTAGCACAGCAAACAAAAGCATGACATTTGATCATAGATTGACCAGAAAGATCTGG
GTGCCTGATATCTTTTTTGTCCACTCTAAAAGATCCTTCATCCATGATACAACTATGGAG
AATATCATGCTGCGCGTACACCCTGATGGAAACGTCCTCCTAAGTCTCAGGATAACGGTT
TCGGCCATGTGCTTTATGGATTTCAGCAGGTTTCCTCTTGACACTCAAAATTGTTCTCTT
GAACTGGAAAGCTATGCCTACAATGAGGATGACCTAATGCTATACTGGAAACACGGAAAC
AAGTCCTTAAATACTGAAGAACATATGTCCCTTTCTCAGTTCTTCATTGAAGACTTCAGT
GCATCTAGTGGATTAGCTTTCTATAGCAGCACAGGTTGGTACAATAGGCTTTTCATCAAC
TTTGTGCTAAGGAGGCATGTTTTCTTCTTTGTGCTGCAAACCTATTTCCCAGCCATATTG
ATGGTGATGCTTTCATGGGTTTCATTTTGGATTGACCGAAGAGCTGTTCCTGCAAGAGTT
TCCCTGGGAATCACCACAGTGCTGACCATGTCCACAATCATCACTGCTGTGAGCGCCTCC
ATGCCCCAGGTGTCCTACCTCAAGGCTGTGGATGTGTACCTGTGGGTCAGCTCCCTCTTT
GTGTTCCTGTCAGTCATTGAGTATGCAGCTGTGAACTACCTCACCACAGTGGAAGAGCGG
AAACAATTCAAGAAGACAGGAAAGATTTCTAGGATGTACAATATTGATGCAGTTCAAGCT
ATGGCCTTTGATGGTTGTTACCATGACAGCGAGATTGACATGGACCAGACTTCCCTCTCT
CTAAACTCAGAAGACTTCATGAGAAGAAAATCGATATGCAGCCCCAGCACCGATTCATCT
CGGATAAAGAGAAGAAAATCCCTAGGAGGACATGTTGGTAGAATCATTCTGGAAAACAAC
CATGTCATTGACACCTATTCTAGGATTTTATTCCCCATTGTGTATATTTTATTTAATTTG
TTTTACTGGGGTGTATATGTATGA
|
| Enzyme 34 GenBank Gene ID |
NM_001105580.1  |
| Enzyme 34 GeneCard ID |
GABRR3  |
| Enzyme 34 GenAtlas ID |
GABRR3  |
| Enzyme 34 HGNC ID |
HGNC:17969  |
| Enzyme 34 Chromosome Location |
3 |
| Enzyme 34 Locus |
3q11.2 |
| Enzyme 34 SNPs |
SNPJam Report  |
| Enzyme 34 General References |
- 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
]
- Bailey ME, Albrecht BE, Johnson KJ, Darlison MG: Genetic linkage and radiation hybrid mapping of the three human GABA(C) receptor rho subunit genes: GABRR1, GABRR2 and GABRR3. Biochim Biophys Acta. 1999 Oct 28;1447(2-3):307-12. [PubMed
]
|
| Enzyme 34 Metabolite References |
Not Available |
|
Enzyme 35
[top]
|
| Enzyme 35 ID |
13926 |
| Enzyme 35 Name |
Gamma-aminobutyric acid receptor subunit theta |
| Enzyme 35 Synonyms |
- GABA(A) receptor subunit theta
|
| Enzyme 35 Gene Name |
GABRQ |
| Enzyme 35 Protein Sequence |
>Gamma-aminobutyric acid receptor subunit theta
MGIRGMLRAAVILLLIRTWLAEGNYPSPIPKFHFEFSSAVPEVVLNLFNCKNCANEAVVQ
KILDRVLSRYDVRLRPNFGGAPVPVRISIYVTSIEQISEMNMDYTITMFFHQTWKDSRLA
YYETTLNLTLDYRMHEKLWVPDCYFLNSKDAFVHDVTVENRVFQLHPDGTVRYGIRLTTT
AACSLDLHKFPMDKQACNLVVESYGYTVEDIILFWDDNGNAIHMTEELHIPQFTFLGRTI
TSKEVYFYTGSYIRLILKFQVQREVNSYLVQVYWPTVLTTITSWISFWMNYDSSAARVTI
GLTSMLILTTIDSHLRDKLPNISCIKAIDIYILVCLFFVFLSLLEYVYINYLFYSRGPRR
QPRRHRRPRRVIARYRYQQVVVGNVQDGLINVEDGVSSLPITPAQAPLASPESLGSLTST
SEQAQLATSESLSPLTSLSGQAPLATGESLSDLPSTSEQARHSYGVRFNGFQADDSIFPT
EIRNRVEAHGHGVTHDHEDSNESLSSDERHGHGPSGKPMLHHGEKGVQEAGWDLDDNNDK
SDCLAIKEQFKCDTNSTWGLNDDELMAHGQEKDSSSESEDSCPPSPGCSFTEGFSFDLFN
PDYVPKVDKWSRFLFPLAFGLFNIVYWVYHMY
|
| Enzyme 35 Number of Residues |
632 |
| Enzyme 35 Molecular Weight |
72020.9 |
| Enzyme 35 Theoretical pI |
5.76 |
| Enzyme 35 GO Classification |
| Function |
- GABA receptor activity
- GABA-A receptor activity
- extracellular ligand-gated ion channel activity
- ion channel activity
- ion transmembrane transporter activity
- ligand-gated ion channel activity
- molecular transducer activity
- receptor activity
- signal transducer activity
- substrate-specific transmembrane transporter activity
- transmembrane receptor activity
- transmembrane transporter activity
- transporter activity
|
| Process |
- establishment of localization
- ion transport
- transport
|
| Component |
- cell part
- integral to membrane
- intrinsic to membrane
- membrane
- membrane part
- postsynaptic membrane
|
|
| Enzyme 35 General Function |
Involved in ion transport |
| Enzyme 35 Specific Function |
GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel |
| Enzyme 35 Pathways |
Not Available |
| Enzyme 35 Reactions |
Not Available |
| Enzyme 35 Pfam Domain Function |
|
| Enzyme 35 Signals |
|
| Enzyme 35 Transmembrane Regions |
|
| Enzyme 35 Essentiality |
Not Available |
| Enzyme 35 GenBank ID Protein |
268838843  |
| Enzyme 35 UniProtKB/Swiss-Prot ID |
Q9UN88  |
| Enzyme 35 UniProtKB/Swiss-Prot Entry Name |
GBRT_HUMAN  |
| Enzyme 35 PDB ID |
Not Available |
| Enzyme 35 Cellular Location |
Not Available |
| Enzyme 35 Gene Sequence |
>1899 bp
ATGGGCATCCGAGGCATGCTGCGAGCCGCAGTGATCCTGCTGCTCATCAGGACCTGGCTC
GCGGAGGGCAACTACCCCAGTCCCATCCCGAAATTCCACTTCGAGTTCTCCTCTGCTGTG
CCCGAAGTCGTCCTGAACCTCTTCAACTGCAAAAATTGTGCAAATGAAGCTGTGGTTCAA
AAGATTTTGGACAGGGTGCTGTCAAGATACGATGTCCGCCTGAGACCGAATTTTGGAGGT
GCCCCTGTGCCTGTGAGAATATCTATTTATGTCACGAGCATTGAACAGATCTCAGAAATG
AATATGGACTACACGATCACGATGTTTTTTCATCAGACTTGGAAAGATTCACGCTTAGCA
TACTATGAGACCACCCTGAACTTGACCCTGGACTATCGGATGCATGAGAAGTTGTGGGTC
CCTGACTGCTACTTTCTGAACAGCAAGGATGCTTTCGTGCATGATGTGACTGTGGAGAAT
CGCGTGTTTCAGCTTCACCCAGATGGAACGGTGCGGTACGGCATCCGACTCACCACTACA
GCAGCTTGTTCCCTGGATCTGCATAAATTCCCTATGGACAAGCAGGCCTGCAACCTGGTG
GTAGAGAGCTATGGTTACACGGTTGAAGACATCATATTATTCTGGGATGACAATGGGAAC
GCCATCCACATGACTGAGGAGCTGCATATCCCTCAGTTCACTTTCCTGGGAAGGACGATT
ACTAGCAAGGAGGTGTATTTCTACACAGGTTCCTACATACGCCTGATACTGAAGTTCCAG
GTTCAGAGGGAAGTTAACAGCTACCTTGTGCAAGTCTACTGGCCTACTGTCCTCACCACT
ATTACCTCTTGGATATCGTTTTGGATGAACTATGATTCCTCTGCAGCCAGGGTGACAATT
GGCTTAACTTCAATGCTCATCCTGACCACCATCGACTCACATCTGCGGGATAAGCTCCCC
AACATTTCCTGTATCAAGGCCATTGATATCTATATCCTCGTGTGCTTGTTCTTTGTGTTC
CTGTCCTTGCTGGAGTATGTCTACATCAACTATCTTTTCTACAGTCGAGGACCTCGGCGC
CAGCCTAGGCGACACAGGAGACCCCGAAGAGTCATTGCCCGCTACCGCTACCAGCAAGTG
GTGGTAGGAAACGTGCAGGATGGCCTGATTAACGTGGAAGACGGAGTCAGCTCTCTCCCC
ATCACCCCAGCGCAGGCCCCCCTGGCAAGCCCGGAAAGCCTCGGTTCTTTGACGTCCACC
TCCGAGCAGGCCCAGCTGGCCACCTCGGAAAGCCTCAGCCCACTCACTTCTCTCTCAGGC
CAGGCCCCCCTGGCCACTGGAGAAAGCCTGAGCGATCTCCCCTCCACCTCAGAGCAGGCC
CGGCACAGCTATGGTGTTCGCTTTAATGGTTTCCAGGCTGATGACAGTATTTTTCCTACC
GAAATCCGCAACCGTGTCGAAGCCCATGGCCATGGTGTTACCCATGACCATGAAGATTCC
AATGAGAGCTTGAGCTCGGATGAGCGCCATGGCCATGGCCCCAGTGGGAAGCCCATGCTT
CACCATGGCGAGAAGGGTGTGCAAGAAGCAGGCTGGGACCTTGATGACAACAATGACAAG
AGCGACTGCCTTGCCATTAAGGAGCAATTCAAGTGTGATACTAACAGTACCTGGGGCCTT
AATGATGATGAGCTCATGGCCCATGGCCAAGAGAAGGACAGTAGCTCAGAGTCTGAGGAT
AGTTGCCCCCCAAGCCCTGGGTGCTCCTTCACTGAAGGGTTCTCCTTCGATCTCTTTAAT
CCTGACTACGTCCCAAAGGTCGACAAGTGGTCCCGGTTCCTCTTCCCTCTGGCCTTTGGG
TTGTTCAACATTGTTTACTGGGTATACCATATGTATTAG
|
| Enzyme 35 GenBank Gene ID |
NM_018558.2  |
| Enzyme 35 GeneCard ID |
GABRQ  |
| Enzyme 35 GenAtlas ID |
GABRQ  |
| Enzyme 35 HGNC ID |
HGNC:14454  |
| Enzyme 35 Chromosome Location |
Not Available |
| Enzyme 35 Locus |
Not Available |
| Enzyme 35 SNPs |
SNPJam Report  |
| Enzyme 35 General References |
- Sinkkonen ST, Hanna MC, Kirkness EF, Korpi ER: GABA(A) receptor epsilon and theta subunits display unusual structural variation between species and are enriched in the rat locus ceruleus. J Neurosci. 2000 May 15;20(10):3588-95. [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
]
- Bonnert TP, McKernan RM, Farrar S, le Bourdelles B, Heavens RP, Smith DW, Hewson L, Rigby MR, Sirinathsinghji DJ, Brown N, Wafford KA, Whiting PJ: theta, a novel gamma-aminobutyric acid type A receptor subunit. Proc Natl Acad Sci U S A. 1999 Aug 17;96(17):9891-6. [PubMed
]
|
| Enzyme 35 Metabolite References |
Not Available |
|
Enzyme 36
[top]
|
| Enzyme 36 ID |
16882 |
| Enzyme 36 Name |
Gamma-aminobutyric acid receptor-associated protein-like 2 |
| Enzyme 36 Synonyms |
- GABA(A) receptor-associated protein-like 2
- Ganglioside expression factor 2
- GEF-2
- General protein transport factor p16
- Golgi-associated ATPase enhancer of 16 kDa
- GATE-16
- MAP1 light chain 3-related protein
|
| Enzyme 36 Gene Name |
GABARAPL2 |
| Enzyme 36 Protein Sequence |
>Gamma-aminobutyric acid receptor-associated protein-like 2
MKWMFKEDHSLEHRCVESAKIRAKYPDRVPVIVEKVSGSQIVDIDKRKYLVPSDITVAQF
MWIIRKRIQLPSEKAIFLFVDKTVPQSSLTMGQLYEKEKDEDGFLYVAYSGENTFGF
|
| Enzyme 36 Number of Residues |
117 |
| Enzyme 36 Molecular Weight |
13666.7 |
| Enzyme 36 Theoretical pI |
8.43 |
| Enzyme 36 GO Classification |
Not Available |
| Enzyme 36 General Function |
Involved in ATPase binding |
| Enzyme 36 Specific Function |
Involved in intra-Golgi traffic. Modulates intra-Golgi transport through coupling between NSF activity and SNAREs activation. It first stimulates the ATPase activity of NSF which in turn stimulates the association with GOSR1 |
| Enzyme 36 Pathways |
Not Available |
| Enzyme 36 Reactions |
Not Available |
| Enzyme 36 Pfam Domain Function |
|
| Enzyme 36 Signals |
|
| Enzyme 36 Transmembrane Regions |
|
| Enzyme 36 Essentiality |
Not Available |
| Enzyme 36 GenBank ID Protein |
12641849  |
| Enzyme 36 UniProtKB/Swiss-Prot ID |
P60520  |
| Enzyme 36 UniProtKB/Swiss-Prot Entry Name |
GBRL2_HUMAN  |
| Enzyme 36 PDB ID |
1EO6  |
| Enzyme 36 PDB File |
Show |
| Enzyme 36 3D Structure |
|
| Enzyme 36 Cellular Location |
Not Available |
| Enzyme 36 Gene Sequence |
>354 bp
ATGAAGTGGATGTTCAAGGAGGACCACTCGCTGGAACACAGATGCGTGGAGTCCGCGAAG
ATTCGAGCGAAATATCCCGACAGGGTTCCGGTGATTGTGGAAAAGGTCTCAGGCTCTCAG
ATTGTTGACATTGACAAACGGAAGTACTTGGTTCCATCTGATATCACTGTGGCTCAGTTC
ATGTGGATCATCAGGAAAAGGATCCAGCTTCCTTCTGAAAAGGCGATCTTCCTGTTTGTG
GATAAGACAGTCCCACAGTCCAGCCTAACTATGGGACAGCTTTACGAGAAGGAAAAAGAT
GAAGATGGATTCTTATATGTGGCCTACAGCGGAGAGAACACTTTTGGCTTCTGA
|
| Enzyme 36 GenBank Gene ID |
AB030710  |
| Enzyme 36 GeneCard ID |
GABARAPL2  |
| Enzyme 36 GenAtlas ID |
GABARAPL2  |
| Enzyme 36 HGNC ID |
HGNC:13291  |
| Enzyme 36 Chromosome Location |
1 |
| Enzyme 36 Locus |
16q22.1 |
| Enzyme 36 SNPs |
SNPJam Report  |
| Enzyme 36 General References |
- Okazaki N, Yan J, Yuasa S, Ueno T, Kominami E, Masuho Y, Koga H, Muramatsu M: Interaction of the Unc-51-like kinase and microtubule-associated protein light chain 3 related proteins in the brain: possible role of vesicular transport in axonal elongation. Brain Res Mol Brain Res. 2000 Dec 28;85(1-2):1-12. [PubMed
]
- Xin Y, Yu L, Chen Z, Zheng L, Fu Q, Jiang J, Zhang P, Gong R, Zhao S: Cloning, expression patterns, and chromosome localization of three human and two mouse homologues of GABA(A) receptor-associated protein. Genomics. 2001 Jun 15;74(3):408-13. [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
]
- Molina H, Horn DM, Tang N, Mathivanan S, Pandey A: Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry. Proc Natl Acad Sci U S A. 2007 Feb 13;104(7):2199-204. Epub 2007 Feb 7. [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
]
- 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 36 Metabolite References |
Not Available |
|
Enzyme 37
[top]
|
| Enzyme 37 ID |
17099 |
| Enzyme 37 Name |
Gamma-aminobutyric acid receptor-associated protein |
| Enzyme 37 Synonyms |
- GABA(A) receptor-associated protein
- MM46
|
| Enzyme 37 Gene Name |
GABARAP |
| Enzyme 37 Protein Sequence |
>Gamma-aminobutyric acid receptor-associated protein
MKFVYKEEHPFEKRRSEGEKIRKKYPDRVPVIVEKAPKARIGDLDKKKYLVPSDLTVGQF
YFLIRKRIHLRAEDALFFFVNNVIPPTSATMGQLYQEHHEEDFFLYIAYSDESVYGL
|
| Enzyme 37 Number of Residues |
117 |
| Enzyme 37 Molecular Weight |
13917.9 |
| Enzyme 37 Theoretical pI |
9.21 |
| Enzyme 37 GO Classification |
Not Available |
| Enzyme 37 General Function |
Involved in beta-tubulin binding |
| Enzyme 37 Specific Function |
May play a role in intracellular transport of GABA(A) receptors and its interaction with the cytoskeleton |
| Enzyme 37 Pathways |
Not Available |
| Enzyme 37 Reactions |
Not Available |
| Enzyme 37 Pfam Domain Function |
|
| Enzyme 37 Signals |
|
| Enzyme 37 Transmembrane Regions |
|
| Enzyme 37 Essentiality |
Not Available |
| Enzyme 37 GenBank ID Protein |
12641851  |
| Enzyme 37 UniProtKB/Swiss-Prot ID |
O95166  |
| Enzyme 37 UniProtKB/Swiss-Prot Entry Name |
GBRAP_HUMAN  |
| Enzyme 37 PDB ID |
1KM7  |
| Enzyme 37 PDB File |
Show |
| Enzyme 37 3D Structure |
|
| Enzyme 37 Cellular Location |
Not Available |
| Enzyme 37 Gene Sequence |
>354 bp
ATGAAGTTCGTGTACAAAGAAGAGCATCCGTTCGAGAAGCGCCGCTCTGAGGGCGAGAAG
ATCCGAAAGAAATACCCGGACCGGGTGCCGGTGATAGTAGAAAAGGCTCCCAAAGCTCGG
ATAGGAGACCTGGACAAAAAGAAATACCTGGTGCCTTCTGATCTCACAGTTGGTCAGTTC
TACTTCTTGATCCGGAAGCGAATTCATCTCCGAGCTGAAGATGCCTTGTTTTTCTTTGTC
AACAATGTCATTCCACCCACCAGTGCCACAATGGGTCAGCTGTACCAGGAACACCATGAA
GAAGACTTCTTTCTCTACATTGCCTACAGTGACGAAAGTGTCTACGGTCTGTGA
|
| Enzyme 37 GenBank Gene ID |
AB030711  |
| Enzyme 37 GeneCard ID |
GABARAP  |
| Enzyme 37 GenAtlas ID |
GABARAP  |
| Enzyme 37 HGNC ID |
HGNC:4067  |
| Enzyme 37 Chromosome Location |
1 |
| Enzyme 37 Locus |
17p13.1 |
| Enzyme 37 SNPs |
SNPJam Report  |
| Enzyme 37 General References |
- Wang H, Bedford FK, Brandon NJ, Moss SJ, Olsen RW: GABA(A)-receptor-associated protein links GABA(A) receptors and the cytoskeleton. Nature. 1999 Jan 7;397(6714):69-72. [PubMed
]
- Okazaki N, Yan J, Yuasa S, Ueno T, Kominami E, Masuho Y, Koga H, Muramatsu M: Interaction of the Unc-51-like kinase and microtubule-associated protein light chain 3 related proteins in the brain: possible role of vesicular transport in axonal elongation. Brain Res Mol Brain Res. 2000 Dec 28;85(1-2):1-12. [PubMed
]
- Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH, Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM, Huang GY, Chen Z, Chen MD, Chen JL: Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. Proc Natl Acad Sci U S A. 2000 Aug 15;97(17):9543-8. [PubMed
]
- Knight D, Harris R, McAlister MS, Phelan JP, Geddes S, Moss SJ, Driscoll PC, Keep NH: The X-ray crystal structure and putative ligand-derived peptide binding properties of gamma-aminobutyric acid receptor type A receptor-associated protein. J Biol Chem. 2002 Feb 15;277(7):5556-61. Epub 2001 Nov 29. [PubMed
]
- Stangler T, Mayr LM, Willbold D: Solution structure of human GABA(A) receptor-associated protein GABARAP: implications for biolgoical funcrion and its regulation. J Biol Chem. 2002 Apr 19;277(16):13363-6. Epub 2002 Mar 1. [PubMed
]
- Kouno T, Miura K, Kanematsu T, Shirakawa M, Hirata M, Kawano K: 1H, 13C and '5N resonance assignments of GABARAP, GABAA receptor associated protein. J Biomol NMR. 2002 Jan;22(1):97-8. [PubMed
]
|
| Enzyme 37 Metabolite References |
Not Available |
|
Enzyme 38
[top]
|
| Enzyme 38 ID |
17100 |
| Enzyme 38 Name |
Gamma-aminobutyric acid receptor-associated protein-like 1 |
| Enzyme 38 Synonyms |
- Early estrogen-regulated protein
- GABA(A) receptor-associated protein-like 1
- Glandular epithelial cell protein 1
- GEC-1
|
| Enzyme 38 Gene Name |
GABARAPL1 |
| Enzyme 38 Protein Sequence |
>Gamma-aminobutyric acid receptor-associated protein-like 1
MKFQYKEDHPFEYRKKEGEKIRKKYPDRVPVIVEKAPKARVPDLDKRKYLVPSDLTVGQF
YFLIRKRIHLRPEDALFFFVNNTIPPTSATMGQLYEDNHEEDYFLYVAYSDESVYGK
|
| Enzyme 38 Number of Residues |
117 |
| Enzyme 38 Molecular Weight |
14044.0 |
| Enzyme 38 Theoretical pI |
9.13 |
| Enzyme 38 GO Classification |
Not Available |
| Enzyme 38 General Function |
Involved in beta-tubulin binding |
| Enzyme 38 Specific Function |
Increases cell-surface expression of kappa-type opioid receptor through facilitating anterograde intracellular trafficking of the receptor |
| Enzyme 38 Pathways |
Not Available |
| Enzyme 38 Reactions |
Not Available |
| Enzyme 38 Pfam Domain Function |
|
| Enzyme 38 Signals |
|
| Enzyme 38 Transmembrane Regions |
|
| Enzyme 38 Essentiality |
Not Available |
| Enzyme 38 GenBank ID Protein |
13375571  |
| Enzyme 38 UniProtKB/Swiss-Prot ID |
Q9H0R8  |
| Enzyme 38 UniProtKB/Swiss-Prot Entry Name |
GBRL1_HUMAN  |
| Enzyme 38 PDB ID |
Not Available |
| Enzyme 38 Cellular Location |
Not Available |
| Enzyme 38 Gene Sequence |
>354 bp
ATGAAGTTCCAGTACAAGGAGGACCATCCCTTTGAGTATCGGAAAAAGGAAGGAGAAAAG
ATCCGGAAGAAATATCCGGACAGGGTCCCCGTGATTGTAGAGAAGGCTCCAAAAGCCAGG
GTGCCTGATCTGGACAAGAGGAAGTACCTAGTGCCCTCTGACCTTACTGTTGGCCAGTTC
TACTTCTTAATCCGGAAGAGAATCCACCTGAGACCTGAGGACGCCTTATTCTTCTTTGTC
AACAACACCATCCCTCCCACCAGTGCTACCATGGGCCAACTGTATGAGGACAATCATGAG
GAAGACTATTTTCTGTATGTGGCCTACAGTGATGAGAGTGTCTATGGGAAATGA
|
| Enzyme 38 GenBank Gene ID |
AF087847  |
| Enzyme 38 GeneCard ID |
GABARAPL1  |
| Enzyme 38 GenAtlas ID |
GABARAPL1  |
| Enzyme 38 HGNC ID |
HGNC:4068  |
| Enzyme 38 Chromosome Location |
1 |
| Enzyme 38 Locus |
12p13.2 |
| Enzyme 38 SNPs |
SNPJam Report  |
| Enzyme 38 General References |
- Vernier-Magnin S, Muller S, Sallot M, Radom J, Musard JF, Adami P, Dulieu P, Remy-Martin JP, Jouvenot M, Fraichard A: A novel early estrogen-regulated gene gec1 encodes a protein related to GABARAP. Biochem Biophys Res Commun. 2001 Jun 1;284(1):118-25. [PubMed
]
- Xin Y, Yu L, Chen Z, Zheng L, Fu Q, Jiang J, Zhang P, Gong R, Zhao S: Cloning, expression patterns, and chromosome localization of three human and two mouse homologues of GABA(A) receptor-associated protein. Genomics. 2001 Jun 15;74(3):408-13. [PubMed
]
- Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Bocher M, Blocker H, Bauersachs S, Blum H, Lauber J, Dusterhoft A, Beyer A, Kohrer K, Strack N, Mewes HW, Ottenwalder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A: Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. Genome Res. 2001 Mar;11(3):422-35. [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
]
- Chen C, Li JG, Chen Y, Huang P, Wang Y, Liu-Chen LY: GEC1 interacts with the kappa opioid receptor and enhances expression of the receptor. J Biol Chem. 2006 Mar 24;281(12):7983-93. Epub 2006 Jan 23. [PubMed
]
|
| Enzyme 38 Metabolite References |
Not Available |