1. Bicarbonate
2. Bicarbonate (HCO3-)
3. Bicarbonate anion
4. Bicarbonate ion
5. Bicarbonate ion (HCO31-)
6. Bicarbonate ions
7. carbonate
8. Carbonate (HCO31-)
9. Carbonate ion (HCO31-)
10. Carbonic acid
11. Hydrocarbonate(1-)
12. Hydrogen carbonate
13. Hydrogen carbonate (HCO3-)
14. Hydrogen carbonate anion
15. Hydrogen carbonate ion
16. Hydrogen carbonate ion (HCO3-)
17. Hydrogencarbonate
18. hydrogentrioxocarbonate
19. Monohydrogen carbonate

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• Cytoplasm
• Extracellular
• mitochondria

• Blood
• Cellular Cytoplasm
• Cerebrospinal Fluid

• 140350 (Hawkinsinuria)

1. Wikipedia

1. Bile salt-activated lipase
2. Inositol polyphosphate 5-phosphatase OCRL-1
3. Lactotransferrin
4. Serotransferrin
5. Cystic fibrosis transmembrane conductance regulator
6. Electrogenic sodium bicarbonate cotransporter 1
7. Carbonic anhydrase 4
8. Sodium-driven chloride bicarbonate exchanger
9. Chloride anion exchanger
10. Sodium bicarbonate cotransporter 3
11. Adenylate cyclase type 10
12. Solute carrier family 26 member 9
13. Anion exchange transporter
14. Electrogenic sodium bicarbonate cotransporter 4
15. Bestrophin-1
16. Bestrophin-2
17. Bestrophin-3
18. Bestrophin-4
19. Solute carrier family 26 member 10
20. Prestin
21. Sodium/hydrogen exchanger 10

1. BAL
2. Bile salt-stimulated lipase
3. BSSL
4. Bucelipase
5. Carboxyl ester lipase
6. Cholesterol esterase
7. Pancreatic lysophospholipase
8. Sterol esterase

MGRLQLVVLGLTCCWAVASAAKLGAVYTEGGFVEGVNKKLGLLGDSVDIFKGIPFAAPTK
ALENPQPHPGWQGTLKAKNFKKRCLQATITQDSTYGDEDCLYLNIWVPQGRKQVSRDLPV
MIWIYGGAFLMGSGHGANFLNNYLYDGEEIATRGNVIVVTFNYRVGPLGFLSTGDANLPG
NYGLRDQHMAIAWVKRNIAAFGGDPNNITLFGESAGGASVSLQTLSPYNKGLIRRAISQS
GVALSPWVIQKNPLFWAKKVAEKVGCPVGDAARMAQCLKVTDPRALTLAYKVPLAGLEYP
MLHYVGFVPVIDGDFIPADPINLYANAADIDYIAGTNNMDGHIFASIDMPAINKGNKKVT
EEDFYKLVSEFTITKGLRGAKTTFDVYTESWAQDPSQENKKKTVVDFETDVLFLVPTEIA
LAQHRANAKSAKTYAYLFSHPSRMPVYPKWVGADHADDIQYVFGKPFATPTGYRPQDRTV
SKAMIAYWTNFAKTGDPNMGDSAVPTHWEPYTTENSGYLEITKKMGSSSMKRSLRTNFLR
YWTLTYLALPTVTDQEATPVPPTGDSEATPVPPTGDSETAPVPPTGDSGAPPVPPTGDSG
APPVPPTGDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPTGDSGAPPVP
PTGDSGAPPVPPTGDAGPPPVPPTGDSGAPPVPPTGDSGAPPVTPTGDSETAPVPPTGDS
GAPPVPPTGDSEAAPVPPTDDSKEAQMPAVIRF

• Bile Acid Biosynthesis (map00120 )

• a steryl ester + H2O = a sterol + a fatty acid [RN:R02115]

• COesterase (PF00135 )

• 1-20

• None

ATGCTCACCATGGGGCGCCTGCAACTGGTTGTGTTGGGCCTCACCTGCTGCTGGGCAGTG
GCGAGTGCCGCGAAGCTGGGCGCCGTGTACACAGAAGGTGGGTTCGTGGAAGGCGTCAAT
AAGAAGCTCGGCCTCCTGGGTGACTCTGTGGACATCTTCAAGGGCATCCCCTTCGCAGCT
CCCACCAAGGCCCTGGAAAATCCTCAGCCACATCCTGGCTGGCAAGGGACCCTGAAGGCC
AAGAACTTCAAGAAGAGATGCCTGCAGGCCACCATCACCCAGGACAGCACCTACGGGGAT
GAAGACTGCCTGTACCTCAACATTTGGGTGCCCCAGGGCAGGAAGCAAGTCTCCCGGGAC
CTGCCCGTTATGATCTGGATCTATGGAGGCGCCTTCCTCATGGGGTCCGGCCATGGGGCC
AACTTCCTCAACAACTACCTGTATGACGGCGAGGAGATCGCCACACGCGGAAACGTCATC
GTGGTCACCTTCAACTACCGTGTCGGCCCCCTTGGGTTCCTCAGCACTGGGGACGCCAAT
CTGCCAGGTAACTATGGCCTTCGGGATCAGCACATGGCCATTGCTTGGGTGAAGAGGAAT
ATCGCGGCCTTCGGGGGGGACCCCAACAACATCACGCTCTTCGGGGAGTCTGCTGGAGGT
GCCAGCGTCTCTCTGCAGACCCTCTCCCCCTACAACAAGGGCCTCATCCGGCGAGCCATC
AGCCAGAGCGGCGTGGCCCTGAGTCCCTGGGTCATCCAGAAAAACCCACTCTTCTGGGCC
AAAAAGGTGGCTGAGAAGGTGGGTTGCCCTGTGGGTGATGCCGCCAGGATGGCCCAGTGT
CTGAAGGTTACTGATCCCCGAGCCCTGACGCTGGCCTATAAGGTGCCGCTGGCAGGCCTG
GAGTACCCCATGCTGCACTATGTGGGCTTCGTCCCTGTCATTGATGGAGACTTCATCCCC
GCTGACCCGATCAACCTGTACGCCAACGCCGCCGACATCGACTATATAGCAGGCACCAAC
AACATGGACGGCCACATCTTCGCCAGCATCGACATGCCTGCCATCAACAAGGGCAACAAG
AAAGTCACGGAGGAGGACTTCTACAAGCTGGTCAGTGAGTTCACAATCACCAAGGGGCTC
AGAGGCGCCAAGACGACCTTTGATGTCTACACCGAGTCCTGGGCCCAGGACCCATCCCAG
GAGAATAAGAAGAAGACTGTGGTGGACTTTGAGACCGATGTCCTCTTCCTGGTGCCCACC
GAGATTGCCCTAGCCCAGCACAGAGCCAATGCCAAGAGTGCCAAGACCTACGCCTACCTG
TTTTCCCATCCCTCTCGGATGCCCGTCTACCCCAAATGGGTGGGGGCCGACCATGCAGAT
GACATTCAGTACGTTTTCGGGAAGCCCTTCGCCACCCCCACGGGCTACCGGCCCCAAGAC
AGGACAGTCTCTAAGGCCATGATCGCCTACTGGACCAACTTTGCCAAAACAGGGGACCCC
AACATGGGCGACTCGGCTGTGCCCACACACTGGGAACCCTACACTACGGAAAACAGCGGC
TACCTGGAGATCACCAAGAAGATGGGCAGCAGCTCCATGAAGCGGAGCCTGAGAACCAAC
TTCCTGCGCTACTGGACCCTCACCTATCTGGCGCTGCCCACAGTGACCGACCAGGAGGCC
ACCCCTGTGCCCCCCACAGGGGACTCCGAGGCCACTCCCGTGCCCCCCACGGGTGACTCC
GAGACCGCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGT
GACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCC
ACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTG
CCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCC
CCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACGCCGGG
CCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGAC
TCCGGGGCCCCCCCCGTGACCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACG
GGTGACTCCGGGGCCCCCCCTGTGCCCCCCACGGGTGACTCTGAGGCTGCCCCTGTGCCC
CCCACAGATGACTCCAAGGAAGCTCAGATGCCTGCAGTCATTAGGTTTTAG

1. Nilsson J, Blackberg L, Carlsson P, Enerback S, Hernell O, Bjursell G: cDNA cloning of human-milk bile-salt-stimulated lipase and evidence for its identity to pancreatic carboxylic ester hydrolase. Eur J Biochem. 1990 Sep 11;192(2):543-50. [PubMed ]
2. Hui DY, Kissel JA: Sequence identity between human pancreatic cholesterol esterase and bile salt-stimulated milk lipase. FEBS Lett. 1990 Dec 10;276(1-2):131-4. [PubMed ]
3. Baba T, Downs D, Jackson KW, Tang J, Wang CS: Structure of human milk bile salt activated lipase. Biochemistry. 1991 Jan 15;30(2):500-10. [PubMed ]
4. Lidberg U, Nilsson J, Stromberg K, Stenman G, Sahlin P, Enerback S, Bjursell G: Genomic organization, sequence analysis, and chromosomal localization of the human carboxyl ester lipase (CEL) gene and a CEL-like (CELL) gene. Genomics. 1992 Jul;13(3):630-40. [PubMed ]
5. Roudani S, Miralles F, Margotat A, Escribano MJ, Lombardo D: Bile salt-dependent lipase transcripts in human fetal tissues. Biochim Biophys Acta. 1995 Oct 17;1264(1):141-50. [PubMed ]
6. Madeyski K, Lidberg U, Bjursell G, Nilsson J: Structure and organization of the human carboxyl ester lipase locus. Mamm Genome. 1998 Apr;9(4):334-8. [PubMed ]
7. 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 ]
8. Hui DY, Hayakawa K, Oizumi J: Lipoamidase activity in normal and mutagenized pancreatic cholesterol esterase (bile salt-stimulated lipase). Biochem J. 1993 Apr 1;291 ( Pt 1):65-9. [PubMed ]
9. Christie DL, Cleverly DR, O'Connor CJ: Human milk bile-salt stimulated lipase. Sequence similarity with rat lysophospholipase and homology with the active site region of cholinesterases. FEBS Lett. 1991 Jan 28;278(2):190-4. [PubMed ]
10. Wang CS, Dashti A, Jackson KW, Yeh JC, Cummings RD, Tang J: Isolation and characterization of human milk bile salt-activated lipase C-tail fragment. Biochemistry. 1995 Aug 22;34(33):10639-44. [PubMed ]
11. Mechref Y, Chen P, Novotny MV: Structural characterization of the N-linked oligosaccharides in bile salt-stimulated lipase originated from human breast milk. Glycobiology. 1999 Mar;9(3):227-34. [PubMed ]
12. Terzyan S, Wang CS, Downs D, Hunter B, Zhang XC: Crystal structure of the catalytic domain of human bile salt activated lipase. Protein Sci. 2000 Sep;9(9):1783-90. [PubMed ]
13. Raeder H, Johansson S, Holm PI, Haldorsen IS, Mas E, Sbarra V, Nermoen I, Eide SA, Grevle L, Bjorkhaug L, Sagen JV, Aksnes L, Sovik O, Lombardo D, Molven A, Njolstad PR: Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. Nat Genet. 2006 Jan;38(1):54-62. Epub 2005 Dec 20. [PubMed ]

1. Lowe oculocerebrorenal syndrome protein

MEPPLPVGAQPLATVEGMEMKGPLREPCALTLAQRNGQYELIIQLHEKEQHVQDIIPINS
HFRCVQEAEETLLIDIASNSGCKIRVQGDWIRERRFEIPDEEHCLKFLSAVLAAQKAQSQ
LLVPEQKDSSSWYQKLDTKDKPSVFSGLLGFEDNFSSMNLDKKINSQNQPTGIHREPPPP
PFSVNKMLPREKEASNKEQPKVTNTMRKLFVPNTQSGQREGLIKHILAKREKEYVNIQTF
RFFVGTWNVNGQSPDSGLEPWLNCDPNPPDIYCIGFQELDLSTEAFFYFESVKEQEWSMA
VERGLHSKAKYKKVQLVRLVGMMLLIFARKDQCRYIRDIATETVGTGIMGKMGNKGGVAV
RFVFHNTTFCIVNSHLAAHVEDFERRNQDYKDICARMSFVVPNQTLPQLNIMKHEVVIWL
GDLNYRLCMPDANEVKSLINKKDLQRLLKFDQLNIQRTQKKAFVDFNEGEIKFIPTYKYD
SKTDRWDSSGKCRVPAWCDRILWRGTNVNQLNYRSHMELKTSDHKPVSALFHIGVKVVDE
RRYRKVFEDSVRIMDRMENDFLPSLELSRREFVFENVKFRQLQKEKFQISNNGQVPCHFS
FIPKLNDSQYCKPWLRAEPFEGYLEPNETVDISLDVYVSKDSVTILNSGEDKIEDILVLH
LDRGKDYFLTISGNYLPSCFGTSLEALCRMKRPIREVPVTKLIDLEEDSFLEKEKSLLQM
VPLDEGASERPLQVPKEIWLLVDHLFKYACHQEDLFQTPGMQEELQQIIDCLDTSIPETI
PGSNHSVAEALLIFLEALPEPVICYELYQRCLDSAYDPRICRQVISQLPRCHRNVFRYLM
AFLRELLKFSEYNSVNANMIATLFTSLLLRPPPNLMARQTPSDRQRAIQFLLGFLLGSEE
D

• Inositol Metabolism (map00562 )
• Phosphatidylinositol signaling system (map04070 )

• 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H2O = 1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate [RN:R04404]

• Exo_endo_phos (PF03372 )
• RhoGAP (PF00620 )

• None

• None

ATGGAGCCGCCGCTCCCGGTCGGAGCCCAGCCGCTTGCCACTGTCGAGGGTATGGAGATG
AAGGGTCCTCTCCGGGAGCCCTGCGCCCTGACCCTAGCCCAGAGGAACGGGCAATATGAG
TTAATAATCCAGTTGCATGAGAAGGAACAGCATGTTCAAGATATCATTCCTATAAATAGC
CACTTCAGATGTGTTCAAGAAGCAGAAGAAACTCTTTTGATTGACATAGCTTCTAACAGT
GGCTGCAAAATTCGGGTTCAGGGGGACTGGATCAGAGAGCGCCGCTTTGAAATCCCTGAT
GAGGAACACTGTTTGAAGTTCCTCTCAGCTGTCCTTGCTGCTCAGAAAGCTCAGTCACAG
CTTCTTGTTCCAGAGCAAAAGGACTCATCTAGCTGGTACCAGAAATTAGACACTAAGGAC
AAACCTTCTGTTTTTTCAGGGCTTCTTGGATTTGAAGACAATTTTTCTTCTATGAATTTG
GACAAGAAAATAAATTCACAAAATCAGCCTACTGGGATTCATCGGGAACCCCCACCTCCA
CCCTTTTCAGTGAATAAAATGCTTCCACGTGAAAAAGAAGCTTCTAACAAGGAGCAGCCC
AAAGTGACCAACACCATGCGGAAGCTCTTTGTACCAAATACCCAATCTGGGCAGCGGGAG
GGTCTCATCAAACATATCCTGGCAAAGCGAGAGAAAGAATATGTCAACATTCAGACTTTC
AGATTTTTTGTTGGAACTTGGAATGTGAATGGCCAGTCTCCAGATAGCGGGTTAGAACCT
TGGCTGAACTGTGATCCCAATCCTCCTGATATCTACTGCATTGGATTCCAAGAACTGGAC
TTGAGCACAGAAGCCTTCTTCTACTTTGAATCTGTGAAGGAACAAGAATGGTCCATGGCT
GTAGAGAGAGGTTTGCATTCCAAAGCCAAGTATAAGAAAGTTCAACTGGTGCGCCTTGTT
GGGATGATGCTTCTTATATTTGCCAGAAAGGATCAGTGTCGATACATTCGTGATATTGCT
ACAGAAACAGTTGGAACTGGAATCATGGGGAAAATGGGAAACAAAGGTGGGGTAGCTGTG
AGATTTGTATTTCACAACACCACCTTTTGCATTGTCAATTCCCATCTGGCTGCACACGTG
GAGGACTTTGAGAGAAGGAATCAAGATTATAAGGACATTTGTGCGAGAATGAGTTTTGTG
GTCCCAAATCAGACCCTCCCGCAGTTGAACATCATGAAACATGAGGTTGTCATTTGGTTG
GGAGATTTGAATTATAGACTTTGCATGCCTGATGCCAATGAGGTGAAAAGTCTTATTAAT
AAGAAAGACCTTCAGAGACTCTTGAAATTCGACCAGCTAAATATTCAGCGCACACAGAAA
AAAGCTTTTGTTGACTTCAATGAAGGGGAAATCAAGTTCATCCCCACTTATAAGTATGAC
TCTAAAACAGACCGGTGGGATTCCAGTGGGAAATGCCGGGTTCCAGCCTGGTGTGACCGA
ATTCTTTGGAGAGGAACAAATGTTAATCAGCTTAATTATCGGAGTCACATGGAACTGAAA
ACCAGCGACCACAAGCCTGTTAGCGCCCTCTTCCATATTGGGGTGAAGGTTGTGGATGAA
CGAAGGTACCGGAAAGTCTTTGAAGATAGTGTACGCATCATGGACAGAATGGAAAATGAC
TTCCTTCCTTCCTTAGAACTCAGCAGGAGGGAGTTTGTGTTTGAAAATGTGAAGTTTCGG
CAACTACAAAAGGAGAAGTTCCAGATCAGCAACAATGGACAGGTTCCCTGCCATTTTTCT
TTCATCCCTAAACTTAATGACAGCCAGTACTGCAAGCCATGGCTTCGGGCTGAACCTTTT
GAGGGCTACTTGGAGCCAAATGAGACAGTGGACATTTCTCTTGATGTGTATGTCAGCAAA
GACTCTGTAACCATCCTGAACTCGGGAGAAGATAAGATTGAAGATATTCTCGTCCTTCAC
CTGGATCGAGGCAAAGATTACTTCTTGACTATCAGTGGAAATTACCTCCCAAGTTGTTTT
GGCACATCCTTAGAGGCTCTGTGCCGTATGAAAAGACCAATCCGAGAAGTTCCTGTTACC
AAACTCATAGACTTGGAAGAAGACAGCTTCCTAGAAAAGGAGAAATCCCTTCTGCAAATG
GTTCCTTTGGATGAAGGTGCCAGTGAGAGACCCCTTCAGGTTCCCAAGGAGATCTGGCTT
CTAGTAGATCACCTATTCAAATACGCCTGTCACCAGGAGGACCTGTTCCAGACCCCTGGA
ATGCAGGAAGAGCTCCAGCAGATCATTGATTGTCTGGATACCAGCATTCCTGAGACAATC
CCTGGCAGCAACCACTCTGTGGCTGAAGCACTGCTCATTTTCTTGGAAGCCCTGCCAGAG
CCAGTCATCTGTTACGAGCTGTATCAGCGATGTCTTGACTCTGCTTATGATCCCCGGATC
TGCCGACAGGTGATCTCCCAGCTTCCGAGATGCCATAGAAATGTTTTCCGTTACTTGATG
GCATTCCTTCGAGAACTCTTAAAATTCTCTGAATACAATAGCGTCAATGCCAACATGATC
GCTACTCTCTTCACTAGTCTTCTCCTGAGGCCTCCACCCAACCTTATGGCAAGACAGACT
CCAAGTGACCGCCAGCGTGCTATTCAGTTCCTTCTGGGCTTTCTGCTTGGGAGCGAAGAA
GACTAA

1. Attree O, Olivos IM, Okabe I, Bailey LC, Nelson DL, Lewis RA, McInnes RR, Nussbaum RL: The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature. 1992 Jul 16;358(6383):239-42. [PubMed ]
2. Nussbaum RL, Orrison BM, Janne PA, Charnas L, Chinault AC: Physical mapping and genomic structure of the Lowe syndrome gene OCRL1. Hum Genet. 1997 Feb;99(2):145-50. [PubMed ]
3. 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 ]
4. 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 ]
5. Leahey AM, Charnas LR, Nussbaum RL: Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. Hum Mol Genet. 1993 Apr;2(4):461-3. [PubMed ]
6. Zhang X, Jefferson AB, Auethavekiat V, Majerus PW: The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase. Proc Natl Acad Sci U S A. 1995 May 23;92(11):4853-6. [PubMed ]
7. Zhang X, Hartz PA, Philip E, Racusen LC, Majerus PW: Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate. J Biol Chem. 1998 Jan 16;273(3):1574-82. [PubMed ]
8. Lin T, Orrison BM, Leahey AM, Suchy SF, Bernard DJ, Lewis RA, Nussbaum RL: Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. Am J Hum Genet. 1997 Jun;60(6):1384-8. [PubMed ]
9. Lin T, Orrison BM, Suchy SF, Lewis RA, Nussbaum RL: Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients. Mol Genet Metab. 1998 May;64(1):58-61. [PubMed ]
10. Kawano T, Indo Y, Nakazato H, Shimadzu M, Matsuda I: Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes. Am J Med Genet. 1998 Jun 5;77(5):348-55. [PubMed ]
11. Kubota T, Sakurai A, Arakawa K, Shimazu M, Wakui K, Furihata K, Fukushima Y: Identification of two novel mutations in the OCRL1 gene in Japanese families with Lowe syndrome. Clin Genet. 1998 Sep;54(3):199-202. [PubMed ]
12. Monnier N, Satre V, Lerouge E, Berthoin F, Lunardi J: OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling. Hum Mutat. 2000;16(2):157-65. [PubMed ]
13. Roschinger W, Muntau AC, Rudolph G, Roscher AA, Kammerer S: Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination. Mol Genet Metab. 2000 Mar;69(3):213-22. [PubMed ]
14. Hoopes RR Jr, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, Simckes A, Tasic V, Toenshoff B, Suchy SF, Nussbaum RL, Scheinman SJ: Dent Disease with mutations in OCRL1. Am J Hum Genet. 2005 Feb;76(2):260-7. Epub 2004 Dec 30. [PubMed ]

1. Lactoferrin
2. Talalactoferrin
3. Kaliocin-1
4. Lactoferroxin-A
5. Lactoferroxin-B
6. Lactoferroxin-C

MKLVFLVLLFLGALGLCLAGRRRSVQWCAVSQPEATKCFQWQRNMRKVRGPPVSCIKRDS
PIQCIQAIAENRADAVTLDGGFIYEAGLAPYKLRPVAAEVYGTERQPRTHYYAVAVVKKG
GSFQLNELQGLKSCHTGLRRTAGWNVPIGTLRPFLNWTGPPEPIEAAVARFFSASCVPGA
DKGQFPNLCRLCAGTGENKCAFSSQEPYFSYSGAFKCLRDGAGDVAFIRESTVFEDLSDE
AERDEYELLCPDNTRKPVDKFKDCHLARVPSHAVVARSVNGKEDAIWNLLRQAQEKFGKD
KSPKFQLFGSPSGQKDLLFKDSAIGFSRVPPRIDSGLYLGSGYFTAIQNLRKSEEEVAAR
RARVVWCAVGEQELRKCNQWSGLSEGSVTCSSASTTEDCIALVLKGEADAMSLDGGYVYT
AGKCGLVPVLAENYKSQQSSDPDPNCVDRPVEGYLAVAVVRRSDTSLTWNSVKGKKSCHT
AVDRTAGWNIPMGLLFNQTGSCKFDEYFSQSCAPGSDPRSNLCALCIGDEQGENKCVPNS
NERYYGYTGAFRCLAENAGDVAFVKDVTVLQNTDGNNNEAWAKDLKLADFALLCLDGKRK
PVTEARSCHLAMAPNHAVVSRMDKVERLKQVLLHQQAKFGRNGSDCPDKFCLFQSETKNL
LFNDNTECLARLHGKTTYEKYLGPQYVAGITNLKKCSTSPLLEACEFLRK

• Transferrin (PF00405 )

• 1-19

• None

ATGAAACTTGTCTTCCTCGTCCTGCTGTTCCTCGGGGCCCTCGGACTGTGTCTGGCTGGC
CGTAGGAGGAGTGTTCAGTGGTGCGCCGTATCCCAACCCGAGGCCACAAAATGCTTCCAA
TGGCAAAGGAATATGAGAAAAGTGCGTGGCCCTCCTGTCAGCTGCATAAAGAGAGACTCC
CCCATCCAGTGTATCCAGGCCATTGCGGAAAACAGGGCCGATGCTGTGACCCTTGATGGT
GGTTTCATATACGAGGCAGGCCTGGCCCCCTACAAACTGCGACCTGTAGCGGCGGAAGTC
TACGGGACCGAAAGACAGCCACGAACTCACTATTATGCCGTGGCTGTGGTGAAGAAGGGC
GGCAGCTTTCAGCTGAACGAACTGCAAGGTCTGAAGTCCTGCCACACAGGCCTTCGCAGG
ACCGCTGGATGGAATGTCCCTATAGGGACACTTCGTCCATTCTTGAATTGGACGGGTCCA
CCTGAGCCCATTGAGGCAGCTGTGGCCAGGTTCTTCTCAGCCAGCTGTGTTCCCGGTGCA
GATAAAGGACAGTTCCCCAACCTGTGTCGCCTGTGTGCGGGGACAGGGGAAAACAAATGT
GCCTTCTCCTCCCAGGAACCGTACTTCAGCTACTCTGGTGCCTTCAAGTGTCTGAGAGAC
GGGGCTGGAGACGTGGCTTTTATCAGAGAGAGCACAGTGTTTGAGGACCTGTCAGACGAG
GCTGAAAGGGACGAGTATGAGTTACTCTGCCCAGACAACACTCGGAAGCCAGTGGACAAG
TTCAAAGACTGCCATCTGGCCCGGGTCCCTTCTCATGCCGTTGTGGCACGAAGTGTGAAT
GGCAAGGAGGATGCCATCTGGAATCTTCTCCGCCAGGCACAGGAAAAGTTTGGAAAGGAC
AAGTCACCGAAATTCCAGCTCTTTGGCTCCCCTAGTGGGCAGAAAGATCTGCTGTTCAAG
GACTCTGCCATTGGGTTTTCGAGGGTGCCCCCGAGGATAGATTCTGGGCTGTACCTTGGC
TCCGGCTACTTCACTGCCATCCAGAACTTGAGGAAAAGTGAGGAGGAAGTGGCTGCCCGG
CGTGCGCGGGTCGTGTGGTGTGCGGTGGGCGAGCAGGAGCTGCGCAAGTGTAACCAGTGG
AGTGGCTTGAGCGAAGGCAGCGTGACCTGCTCCTCGGCCTCCACCACAGAGGACTGCATC
GCCCTGGTGCTGAAAGGAGAAGCTGATGCCATGAGTTTGGATGGAGGATATGTGTACACT
GCAGGCAAATGTGGTTTGGTGCCTGTCCTGGCAGAGAACTACAAATCCCAACAAAGCAGT
GACCCTGATCCTAACTGTGTGGATAGACCTGTGGAAGGATATCTTGCTGTGGCGGTGGTT
AGGAGATCAGACACTAGCCTTACCTGGAACTCTGTGAAAGGCAAGAAGTCCTGCCACACC
GCCGTGGACAGGACTGCAGGCTGGAATATCCCCATGGGCCTGCTCTTCAACCAGACGGGC
TCCTGCAAATTTGATGAATATTTCAGTCAAAGCTGTGCCCCTGGGTCTGACCCGAGATCT
AATCTCTGTGCTCTGTGTATTGGCGACGAGCAGGGTGAGAATAAGTGCGTGCCCAACAGC
AACGAGAGATACTACGGCTACACTGGGGCTTTCCGGTGCCTGGCTGAGAATGCTGGAGAC
GTTGCATTTGTGAAAGATGTCACTGTCTTGCAGAACACTGATGGAAATAACAATGAGGCA
TGGGCTAAGGATTTGAAGCTGGCAGACTTTGCGCTGCTGTGCCTCGATGGCAAACGGAAG
CCTGTGACTGAGGCTAGAAGCTGCCATCTTGCCATGGCCCCGAATCATGCCGTGGTGTCT
CGGATGGATAAGGTGGAACGCCTGAAACAGGTGTTGCTCCACCAACAGGCTAAATTTGGG
AGAAATGGATCTGACTGCCCGGACAAGTTTTGCTTATTCCAGTCTGAAACCAAAAACCTT
CTGTTCAATGACAACACTGAGTGTCTGGCCAGACTCCATGGCAAAACAACATATGAAAAA
TATTTGGGACCACAGTATGTCGCAGGCATTACTAATCTGAAAAAGTGCTCAACCTCCCCC
CTCCTGGAAGCCTGTGAATTCCTCAGGAAGTAA

1. Rey MW, Woloshuk SL, deBoer HA, Pieper FR: Complete nucleotide sequence of human mammary gland lactoferrin. Nucleic Acids Res. 1990 Sep 11;18(17):5288. [PubMed ]
2. Cheng H, Chen XZ, Huan LD: [cDNA cloning and sequence analysis of human lactoferrin] Sheng Wu Gong Cheng Xue Bao. 2001 Jul;17(4):385-7. [PubMed ]
3. 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 ]
4. Teng CT, Liu Y, Yang N, Walmer D, Panella T: Differential molecular mechanism of the estrogen action that regulates lactoferrin gene in human and mouse. Mol Endocrinol. 1992 Nov;6(11):1969-81. [PubMed ]
5. Powell MJ, Ogden JE: Nucleotide sequence of human lactoferrin cDNA. Nucleic Acids Res. 1990 Jul 11;18(13):4013. [PubMed ]
6. Metz-Boutigue MH, Jolles J, Mazurier J, Schoentgen F, Legrand D, Spik G, Montreuil J, Jolles P: Human lactotransferrin: amino acid sequence and structural comparisons with other transferrins. Eur J Biochem. 1984 Dec 17;145(3):659-76. [PubMed ]
7. Metz-Boutigue MH, Mazurier J, Jolles J, Spik G, Montreuil J, Jolles P: The present state of the human lactotransferrin sequence. Study and alignment of the cyanogen bromide fragments and characterization of N- and C-terminal domains. Biochim Biophys Acta. 1981 Sep 29;670(2):243-54. [PubMed ]
8. Sato I: Characterization of the 84-kDa protein with ABH activity in human seminal plasma. Nihon Hoigaku Zasshi. 1995 Oct;49(5):281-93. [PubMed ]
9. Metz-Boutigue MH, Jolles J, Mazurier J, Spik G, Montreuil J, Jolles P: An 88 amino acid long C-terminal sequence of human lactotransferrin. FEBS Lett. 1982 Jun 1;142(1):107-10. [PubMed ]
10. Rado TA, Wei XP, Benz EJ Jr: Isolation of lactoferrin cDNA from a human myeloid library and expression of mRNA during normal and leukemic myelopoiesis. Blood. 1987 Oct;70(4):989-93. [PubMed ]
11. Tani F, Iio K, Chiba H, Yoshikawa M: Isolation and characterization of opioid antagonist peptides derived from human lactoferrin. Agric Biol Chem. 1990 Jul;54(7):1803-10. [PubMed ]
12. Viejo-Diaz M, Andres MT, Perez-Gil J, Sanchez M, Fierro JF: Potassium efflux induced by a new lactoferrin-derived peptide mimicking the effect of native human lactoferrin on the bacterial cytoplasmic membrane. Biochemistry (Mosc). 2003 Feb;68(2):217-27. [PubMed ]
13. Hendrixson DR, Qiu J, Shewry SC, Fink DL, Petty S, Baker EN, Plaut AG, St Geme JW 3rd: Human milk lactoferrin is a serine protease that cleaves Haemophilus surface proteins at arginine-rich sites. Mol Microbiol. 2003 Feb;47(3):607-17. [PubMed ]
14. Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, Nardone J, Lee K, Reeves C, Li Y, Hu Y, Tan Z, Stokes M, Sullivan L, Mitchell J, Wetzel R, Macneill J, Ren JM, Yuan J, Bakalarski CE, Villen J, Kornhauser JM, Smith B, Li D, Zhou X, Gygi SP, Gu TL, Polakiewicz RD, Rush J, Comb MJ: Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer. Cell. 2007 Dec 14;131(6):1190-203. [PubMed ]
15. Picariello G, Ferranti P, Mamone G, Roepstorff P, Addeo F: Identification of N-linked glycoproteins in human milk by hydrophilic interaction liquid chromatography and mass spectrometry. Proteomics. 2008 Sep;8(18):3833-47. [PubMed ]
16. Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. J Proteome Res. 2009 Feb;8(2):651-61. [PubMed ]
17. Anderson BF, Baker HM, Norris GE, Rice DW, Baker EN: Structure of human lactoferrin: crystallographic structure analysis and refinement at 2.8 A resolution. J Mol Biol. 1989 Oct 20;209(4):711-34. [PubMed ]
18. Haridas M, Anderson BF, Baker EN: Structure of human diferric lactoferrin refined at 2.2 A resolution. Acta Crystallogr D Biol Crystallogr. 1995 Sep 1;51(Pt 5):629-46. [PubMed ]
19. Nicholson H, Anderson BF, Bland T, Shewry SC, Tweedie JW, Baker EN: Mutagenesis of the histidine ligand in human lactoferrin: iron binding properties and crystal structure of the histidine-253-->methionine mutant. Biochemistry. 1997 Jan 14;36(2):341-6. [PubMed ]
20. Sun XL, Baker HM, Shewry SC, Jameson GB, Baker EN: Structure of recombinant human lactoferrin expressed in Aspergillus awamori. Acta Crystallogr D Biol Crystallogr. 1999 Feb;55(Pt 2):403-7. [PubMed ]
21. Jameson GB, Anderson BF, Norris GE, Thomas DH, Baker EN: Structure of human apolactoferrin at 2.0 A resolution. Refinement and analysis of ligand-induced conformational change. Acta Crystallogr D Biol Crystallogr. 1998 Nov 1;54(Pt 6 Pt 2):1319-35. [PubMed ]
22. Klintworth GK, Sommer JR, Obrian G, Han L, Ahmed MN, Qumsiyeh MB, Lin PY, Basti S, Reddy MK, Kanai A, Hotta Y, Sugar J, Kumaramanickavel G, Munier F, Schorderet DF, El Matri L, Iwata F, Kaiser-Kupfer M, Nagata M, Nakayasu K, Hejtmancik JF, Teng CT: Familial subepithelial corneal amyloidosis (gelatinous drop-like corneal dystrophy): exclusion of linkage to lactoferrin gene. Mol Vis. 1998 Dec 31;4:31. [PubMed ]

1. Transferrin
2. Beta-1 metal-binding globulin
3. Siderophilin

MRLAVGALLVCAVLGLCLAVPDKTVRWCAVSEHEATKCQSFRDHMKSVIPSDGPSVACVK
KASYLDCIRAIAANEADAVTLDAGLVYDAYLAPNNLKPVVAEFYGSKEDPQTFYYAVAVV
KKDSGFQMNQLRGKKSCHTGLGRSAGWNIPIGLLYCDLPEPRKPLEKAVANFFSGSCAPC
ADGTDFPQLCQLCPGCGCSTLNQYFGYSGAFKCLKDGAGDVAFVKHSTIFENLANKADRD
QYELLCLDNTRKPVDEYKDCHLAQVPSHTVVARSMGGKEDLIWELLNQAQEHFGKDKSKE
FQLFSSPHGKDLLFKDSAHGFLKVPPRMDAKMYLGYEYVTAIRNLREGTCPEAPTDECKP
VKWCALSHHERLKCDEWSVNSVGKIECVSAETTEDCIAKIMNGEADAMSLDGGFVYIAGK
CGLVPVLAENYNKSDNCEDTPEAGYFAVAVVKKSASDLTWDNLKGKKSCHTAVGRTAGWN
IPMGLLYNKINHCRFDEFFSEGCAPGSKKDSSLCKLCMGSGLNLCEPNNKEGYYGYTGAF
RCLVEKGDVAFVKHQTVPQNTGGKNPDPWAKNLNEKDYELLCLDGTRKPVEEYANCHLAR
APNHAVVTRKDKEACVHKILRQQQHLFGSNVTDCSGNFCLFRSETKDLLFRDDTVCLAKL
HDRNTYEKYLGEEYVKAVGNLRKCSTSSLLEACTFRRP

• Transferrin (PF00405 )

• 1-19

• None

ATGAGGCTCGCCGTGGGAGCCCTGCTGGTCTGCGCCGTCCTGGGGCTGTGTCTGGCTGTC
CCTGATAAAACTGTGAGATGGTGTGCAGTGTCGGAGCATGAGGCCACTAAGTGCCAGAGT
TTCCGCGACCATATGAAAAGCGTCATTCCATCCGATGGTCCCAGTGTTGCTTGTGTGAAG
AAAGCCTCCTACCTTGATTGCATCAGGGCCATTGCGGCAAACGAAGCGGATGCTGTGACA
CTGGATGCAGGTTTGGTGTATGATGCTTACTTGGCTCCCAATAACCTGAAGCCTGTGGTG
GCAGAGTTCTATGGGTCAAAAGAGGATCCACAGACTTTCTATTATGCTGTTGCTGTGGTG
AAGAAGGATAGTGGCTTCCAGATGAACCAGCTTCGAGGCAAGAAGTCCTGCCACACGGGT
CTAGGCAGGTCCGCTGGGTGGAACATCCCCATAGGCTTACTTTACTGTGACTTACCTGAG
CCACGTAAACCTCTTGAGAAAGCAGTGGCCAATTTCTTCTCGGGCAGCTGTGCCCCTTGT
GCGGATGGGACGGACTTCCCCCAGCTGTGTCAACTGTGTCCAGGGTGTGGCTGCTCCACC
CTTAACCAATACTTCGGCTACTCGGGAGCCTTCAAGTGTCTGAAGGATGGTGCTGGGGAT
GTGGCCTTTGTCAAGCACTCGACTATATTTGAGAACTTGGCAAACAAGGCTGACAGGGAC
CAGTATGAGCTGCTTTGCCTAGACAACACCCGGAAGCCGGTAGATGAATACAAGGACTGC
CACTTGGCCCAGGTCCCTTCTCATACCGTCGTGGCCCGAAGTATGGGCGGCAAGGAGGAC
TTGATCTGGGAGCTTCTCAACCAGGCCCAGGAACATTTTGGCAAAGACAAATCAAAAGAA
TTCCAACTATTCAGCTCTCCTCATGGGAAGGACCTGCTGTTTAAGGACTCTGCCCACGGG
TTTTTAAAAGTCCCCCCAAGGATGGATGCCAAGATGTACCTGGGCTATGAGTATGTCACT
GCCATCCGGAATCTACGGGAAGGCACATGCCCAGAAGCCCCAACAGATGAATGCAAGCCT
GTGAAGTGGTGTGCGCTGAGCCACCACGAGAGGCTCAAGTGTGATGAGTGGAGTGTTAAC
AGTGTAGGGAAAATAGAGTGTGTATCAGCAGAGACCACCGAAGACTGCATCGCCAAGATC
ATGAATGGAGAAGCTGATGCCATGAGCTTGGATGGAGGGTTTGTCTACATAGCGGGCAAG
TGTGGTCTGGTGCCTGTCTTGGCAGAAAACTACAATAAGAGCGATAATTGTGAGGATACA
CCAGAGGCAGGGTATTTTGCTGTAGCAGTGGTGAAGAAATCAGCTTCTGACCTCACCTGG
GACAATCTGAAAGGCAAGAAGTCCTGCCATACGGCAGTTGGCAGAACCGCTGGCTGGAAC
ATCCCCATGGGCCTGCTCTACAATAAGATCAACCACTGCAGATTTGATGAATTTTTCAGT
GAAGGTTGTGCCCCTGGGTCTAAGAAAGACTCCAGTCTCTGTAAGCTGTGTATGGGCTCA
GGCCTAAACCTGTGTGAACCCAACAACAAAGAGGGATACTACGGCTACACAGGCGCTTTC
AGGTGTCTGGTTGAGAAGGGAGATGTGGCCTTTGTGAAACACCAGACTGTCCCACAGAAC
ACTGGGGGAAAAAACCCTGATCCATGGGCTAAGAATCTGAATGAAAAAGACTATGAGTTG
CTGTGCCTTGATGGTACCAGGAAACCTGTGGAGGAGTATGCGAACTGCCACCTGGCCAGA
GCCCCGAATCACGCTGTGGTCACACGGAAAGATAAGGAAGCTTGCGTCCACAAGATATTA
CGTCAACAGCAGCACCTATTTGGAAGCAACGTAACTGACTGCTCGGGCAACTTTTGTTTG
TTCCGGTCGGAAACCAAGGACCTTCTGTTCAGAGATGACACAGTATGTTTGGCCAAACTT
CATGACAGAAACACATATGAAAAATACTTAGGAGAAGAATATGTCAAGGCTGTTGGTAAC
CTGAGAAAATGCTCCACCTCATCACTCCTGGAAGCCTGCACTTTCCGTAGACCTTAA

1. Yang F, Lum JB, McGill JR, Moore CM, Naylor SL, van Bragt PH, Baldwin WD, Bowman BH: Human transferrin: cDNA characterization and chromosomal localization. Proc Natl Acad Sci U S A. 1984 May;81(9):2752-6. [PubMed ]
2. Schaeffer E, Lucero MA, Jeltsch JM, Py MC, Levin MJ, Chambon P, Cohen GN, Zakin MM: Complete structure of the human transferrin gene. Comparison with analogous chicken gene and human pseudogene. Gene. 1987;56(1):109-16. [PubMed ]
3. Hershberger CL, Larson JL, Arnold B, Rosteck PR Jr, Williams P, DeHoff B, Dunn P, O'Neal KL, Riemen MW, Tice PA, et al.: A cloned gene for human transferrin. Ann N Y Acad Sci. 1991 Dec 27;646:140-54. [PubMed ]
4. Beutler E, Gelbart T, Lee P, Trevino R, Fernandez MA, Fairbanks VF: Molecular characterization of a case of atransferrinemia. Blood. 2000 Dec 15;96(13):4071-4. [PubMed ]
5. 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 ]
6. 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 ]
7. Adrian GS, Korinek BW, Bowman BH, Yang F: The human transferrin gene: 5' region contains conserved sequences which match the control elements regulated by heavy metals, glucocorticoids and acute phase reaction. Gene. 1986;49(2):167-75. [PubMed ]
8. Lucero MA, Schaeffer E, Cohen GN, Zakin MM: The 5' region of the human transferrin gene: structure and potential regulatory sites. Nucleic Acids Res. 1986 Nov 11;14(21):8692. [PubMed ]
9. MacGillivray RT, Mendez E, Shewale JG, Sinha SK, Lineback-Zins J, Brew K: The primary structure of human serum transferrin. The structures of seven cyanogen bromide fragments and the assembly of the complete structure. J Biol Chem. 1983 Mar 25;258(6):3543-53. [PubMed ]
10. de Arriba Zerpa GA, Saleh MC, Fernandez PM, Guillou F, Espinosa de los Monteros A, de Vellis J, Zakin MM, Baron B: Alternative splicing prevents transferrin secretion during differentiation of a human oligodendrocyte cell line. J Neurosci Res. 2000 Aug 15;61(4):388-95. [PubMed ]
11. Park I, Schaeffer E, Sidoli A, Baralle FE, Cohen GN, Zakin MM: Organization of the human transferrin gene: direct evidence that it originated by gene duplication. Proc Natl Acad Sci U S A. 1985 May;82(10):3149-53. [PubMed ]
12. Kovalyov LI, Shishkin SS, Efimochkin AS, Kovalyova MA, Ershova ES, Egorov TA, Musalyamov AK: The major protein expression profile and two-dimensional protein database of human heart. Electrophoresis. 1995 Jul;16(7):1160-9. [PubMed ]
13. Uzan G, Frain M, Park I, Besmond C, Maessen G, Trepat JS, Zakin MM, Kahn A: Molecular cloning and sequence analysis of cDNA for human transferrin. Biochem Biophys Res Commun. 1984 Feb 29;119(1):273-81. [PubMed ]
14. Namekata K, Oyama F, Imagawa M, Ihara Y: Human transferrin (Tf): a single mutation at codon 570 determines Tf C1 or Tf C2 variant. Hum Genet. 1997 Sep;100(3-4):457-8. [PubMed ]
15. Duguid JR, Bohmont CW, Liu NG, Tourtellotte WW: Changes in brain gene expression shared by scrapie and Alzheimer disease. Proc Natl Acad Sci U S A. 1989 Sep;86(18):7260-4. [PubMed ]
16. MacGillivray RT, Mendez E, Sinha SK, Sutton MR, Lineback-Zins J, Brew K: The complete amino acid sequence of human serum transferrin. Proc Natl Acad Sci U S A. 1982 Apr;79(8):2504-8. [PubMed ]
17. Woodworth RC, Mason AB, Funk WD, MacGillivray RT: Expression and initial characterization of five site-directed mutants of the N-terminal half-molecule of human transferrin. Biochemistry. 1991 Nov 12;30(45):10824-9. [PubMed ]
18. Kristiansen TZ, Bunkenborg J, Gronborg M, Molina H, Thuluvath PJ, Argani P, Goggins MG, Maitra A, Pandey A: A proteomic analysis of human bile. Mol Cell Proteomics. 2004 Jul;3(7):715-28. Epub 2004 Apr 14. [PubMed ]
19. Bunkenborg J, Pilch BJ, Podtelejnikov AV, Wisniewski JR: Screening for N-glycosylated proteins by liquid chromatography mass spectrometry. Proteomics. 2004 Feb;4(2):454-65. [PubMed ]
20. Liu T, Qian WJ, Gritsenko MA, Camp DG 2nd, Monroe ME, Moore RJ, Smith RD: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. J Proteome Res. 2005 Nov-Dec;4(6):2070-80. [PubMed ]
21. Ramachandran P, Boontheung P, Xie Y, Sondej M, Wong DT, Loo JA: Identification of N-linked glycoproteins in human saliva by glycoprotein capture and mass spectrometry. J Proteome Res. 2006 Jun;5(6):1493-503. [PubMed ]
22. Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, Nardone J, Lee K, Reeves C, Li Y, Hu Y, Tan Z, Stokes M, Sullivan L, Mitchell J, Wetzel R, Macneill J, Ren JM, Yuan J, Bakalarski CE, Villen J, Kornhauser JM, Smith B, Li D, Zhou X, Gygi SP, Gu TL, Polakiewicz RD, Rush J, Comb MJ: Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer. Cell. 2007 Dec 14;131(6):1190-203. [PubMed ]
23. Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. J Proteome Res. 2009 Feb;8(2):651-61. [PubMed ]
24. Nilsson J, Ruetschi U, Halim A, Hesse C, Carlsohn E, Brinkmalm G, Larson G: Enrichment of glycopeptides for glycan structure and attachment site identification. Nat Methods. 2009 Nov;6(11):809-11. Epub 2009 Oct 18. [PubMed ]
25. MacGillivray RT, Moore SA, Chen J, Anderson BF, Baker H, Luo Y, Bewley M, Smith CA, Murphy ME, Wang Y, Mason AB, Woodworth RC, Brayer GD, Baker EN: Two high-resolution crystal structures of the recombinant N-lobe of human transferrin reveal a structural change implicated in iron release. Biochemistry. 1998 Jun 2;37(22):7919-28. [PubMed ]
26. Jeffrey PD, Bewley MC, MacGillivray RT, Mason AB, Woodworth RC, Baker EN: Ligand-induced conformational change in transferrins: crystal structure of the open form of the N-terminal half-molecule of human transferrin. Biochemistry. 1998 Oct 6;37(40):13978-86. [PubMed ]
27. Bewley MC, Tam BM, Grewal J, He S, Shewry S, Murphy ME, Mason AB, Woodworth RC, Baker EN, MacGillivray RT: X-ray crystallography and mass spectroscopy reveal that the N-lobe of human transferrin expressed in Pichia pastoris is folded correctly but is glycosylated on serine-32. Biochemistry. 1999 Feb 23;38(8):2535-41. [PubMed ]
28. Evans P, Kemp J: Exon/intron structure of the human transferrin receptor gene. Gene. 1997 Oct 15;199(1-2):123-31. [PubMed ]
29. Pang H, Koda Y, Soejima M, Kimura H: Identification of a mutation (A1879G) of transferrin from cDNA prepared from peripheral blood cells. Ann Hum Genet. 1998 May;62(Pt 3):271-4. [PubMed ]
30. Lee PL, Halloran C, Trevino R, Felitti V, Beutler E: Human transferrin G277S mutation: a risk factor for iron deficiency anaemia. Br J Haematol. 2001 Nov;115(2):329-33. [PubMed ]
31. Douabin-Gicquel V, Soriano N, Ferran H, Wojcik F, Palierne E, Tamim S, Jovelin T, McKie AT, Le Gall JY, David V, Mosser J: Identification of 96 single nucleotide polymorphisms in eight genes involved in iron metabolism: efficiency of bioinformatic extraction compared with a systematic sequencing approach. Hum Genet. 2001 Oct;109(4):393-401. [PubMed ]
32. Knisely AS, Gelbart T, Beutler E: Molecular characterization of a third case of human atransferrinemia. Blood. 2004 Oct 15;104(8):2607. [PubMed ]

1. CFTR
2. ATP-binding cassette sub-family C member 7
3. Channel conductance-controlling ATPase
4. cAMP-dependent chloride channel

MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRE
LASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIA
IYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQL
VSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGL
GRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAA
YVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQT
WYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRK
TSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEG
KIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIV
LGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTR
ILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNS
ILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQ
MNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQG
QNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESI
PAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRN
NSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAP
MSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATV
PVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHK
ALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIM
STLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKK
DDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRL
LNTEGEIQIDGVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVAD
EVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDPVT
YQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQA
ISPSDRVKLFPHRNSSKCKSKPQIAALKEETEEEVQDTRL

• ATP + H2O = ADP + phosphate [RN:R00086]

• ABC_membrane (PF00664 )
• ABC_tran (PF00005 )

• None

• 81-103 118-138 195-215 221-241 308-328 331-350 860-880 912-932 991-1011 1014-1034 1103-1123 1129-1149

ATGCAGAGGTCGCCTCTGGAAAAGGCCAGCGTTGTCTCCAAACTTTTTTTCAGCTGGACC
AGACCAATTTTGAGGAAAGGATACAGACAGCGCCTGGAATTGTCAGACATATACCAAATC
CCTTCTGTTGATTCTGCTGACAATCTATCTGAAAAATTGGAAAGAGAATGGGATAGAGAG
CTGGCTTCAAAGAAAAATCCTAAACTCATTAATGCCCTTCGGCGATGTTTTTTCTGGAGA
TTTATGTTCTATGGAATCTTTTTATATTTAGGGGAAGTCACCAAAGCAGTACAGCCTCTC
TTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCG
ATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCA
GCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATT
TATAAGAAGACTTTAAAGCTGTCAAGCCGTGTTCTAGATAAAATAAGTATTGGACAACTT
GTTAGTCTCCTTTCCAACAACCTGAACAAATTTGATGAAGGACTTGCATTGGCACATTTC
GTGTGGATCGCTCCTTTGCAAGTGGCACTCCTCATGGGGCTAATCTGGGAGTTGTTACAG
GCGTCTGCCTTCTGTGGACTTGGTTTCCTGATAGTCCTTGCCCTTTTTCAGGCTGGGCTA
GGGAGAATGATGATGAAGTACAGAGATCAGAGAGCTGGGAAGATCAGTGAAAGACTTGTG
ATTACCTCAGAAATGATTGAAAATATCCAATCTGTTAAGGCATACTGCTGGGAAGAAGCA
ATGGAAAAAATGATTGAAAACTTAAGACAAACAGAACTGAAACTGACTCGGAAGGCAGCC
TATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTA
TCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATC
TCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACA
TGGTATGACTCTCTTGGAGCAATAAACAAAATACAGGATTTCTTACAAAAGCAAGAATAT
AAGACATTGGAATATAACTTAACGACTACAGAAGTAGTGATGGAGAATGTAACAGCCTTC
TGGGAGGAGGGATTTGGGGAATTATTTGAGAAAGCAAAACAAAACAATAACAATAGAAAA
ACTTCTAATGGTGATGACAGCCTCTTCTTCAGTAATTTCTCACTTCTTGGTACTCCTGTC
CTGAAAGATATTAATTTCAAGATAGAAAGAGGACAGTTGTTGGCGGTTGCTGGATCCACT
GGAGCAGGCAAGACTTCACTTCTAATGGTGATTATGGGAGAACTGGAGCCTTCAGAGGGT
AAAATTAAGCACAGTGGAAGAATTTCATTCTGTTCTCAGTTTTCCTGGATTATGCCTGGC
ACCATTAAAGAAAATATCATCTTTGGTGTTTCCTATGATGAATATAGATACAGAAGCGTC
ATCAAAGCATGCCAACTAGAAGAGGACATCTCCAAGTTTGCAGAGAAAGACAATATAGTT
CTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCAAGA
GCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTT
TTAACAGAAAAAGAAATATTTGAAAGCTGTGTCTGTAAACTGATGGCTAACAAAACTAGG
ATTTTGGTCACTTCTAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCAT
GAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCCAAAATCTACAGCCAGACTTT
AGCTCAAAACTCATGGGATGTGATTCTTTCGACCAATTTAGTGCAGAAAGAAGAAATTCA
ATCCTAACTGAGACCTTACACCGTTTCTCATTAGAAGGAGATGCTCCTGTCTCCTGGACA
GAAACAAAAAAACAATCTTTTAAACAGACTGGAGAGTTTGGGGAAAAAAGGAAGAATTCT
ATTCTCAATCCAATCAACTCTATACGAAAATTTTCCATTGTGCAAAAGACTCCCTTACAA
ATGAATGGCATCGAAGAGGATTCTGATGAGCCTTTAGAGAGAAGGCTGTCCTTAGTACCA
GATTCTGAGCAGGGAGAGGCGATACTGCCTCGCATCAGCGTGATCAGCACTGGCCCCACG
CTTCAGGCACGAAGGAGGCAGTCTGTCCTGAACCTGATGACACACTCAGTTAACCAAGGT
CAGAACATTCACCGAAAGACAACAGCATCCACACGAAAAGTGTCACTGGCCCCTCAGGCA
AACTTGACTGAACTGGATATATATTCAAGAAGGTTATCTCAAGAAACTGGCTTGGAAATA
AGTGAAGAAATTAACGAAGAAGACTTAAAGGAGTGCTTTTTTGATGATATGGAGAGCATA
CCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATT
TTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAGAGGTGGCTGCTTCTTTGGTTGTG
CTGTGGCTCCTTGGAAACACTCCTCTTCAAGACAAAGGGAATAGTACTCATAGTAGAAAT
AACAGCTATGCAGTGATTATCACCAGCACCAGTTCGTATTATGTGTTTTACATTTACGTG
GGAGTAGCCGACACTTTGCTTGCTATGGGATTCTTCAGAGGTCTACCACTGGTGCATACT
CTAATCACAGTGTCGAAAATTTTACACCACAAAATGTTACATTCTGTTCTTCAAGCACCT
ATGTCAACCCTCAACACGTTGAAAGCAGGTGGGATTCTTAATAGATTCTCCAAAGATATA
GCAATTTTGGATGACCTTCTGCCTCTTACCATATTTGACTTCATCCAGTTGTTATTAATT
GTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTG
CCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTC
AAACAACTGGAATCTGAAGGCAGGAGTCCAATTTTCACTCATCTTGTTACAAGCTTAAAA
GGACTATGGACACTTCGTGCCTTCGGACGGCAGCCTTACTTTGAAACTCTGTTCCACAAA
GCTCTGAATTTACATACTGCCAACTGGTTCTTGTACCTGTCAACACTGCGCTGGTTCCAA
ATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTA
ACAACAGGAGAAGGAGAAGGAAGAGTTGGTATTATCCTGACTTTAGCCATGAATATCATG
AGTACATTGCAGTGGGCTGTAAACTCCAGCATAGATGTGGATAGCTTGATGCGATCTGTG
AGCCGAGTCTTTAAGTTCATTGACATGCCAACAGAAGGTAAACCTACCAAGTCAACCAAA
CCATACAAGAATGGCCAACTCTCGAAAGTTATGATTATTGAGAATTCACACGTGAAGAAA
GATGACATCTGGCCCTCAGGGGGCCAAATGACTGTCAAAGATCTCACAGCAAAATACACA
GAAGGTGGAAATGCCATATTAGAGAACATTTCCTTCTCAATAAGTCCTGGCCAGAGGGTG
GGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTA
CTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAA
CAGTGGAGGAAAGCCTTTGGAGTGATACCACAGAAAGTATTTATTTTTTCTGGAACATTT
AGAAAAAACTTGGATCCCTATGAACAGTGGAGTGATCAAGAAATATGGAAAGTTGCAGAT
GAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTG
GATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTT
CTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTAACA
TACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGT
GAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTTGGTCATAGAAGAGAACAAA
GTGCGGCAGTACGATTCCATCCAGAAACTGCTGAACGAGAGGAGCCTCTTCCGGCAAGCC
ATCAGCCCCTCCGACAGGGTGAAGCTCTTTCCCCACCGGAACTCAAGCAAGTGCAAGTCT
AAGCCCCAGATTGCTGCTCTGAAAGAGGAGACAGAAGAAGAGGTGCAAGATACAAGGCTT
TAG

1. Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, et al.: Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989 Sep 8;245(4922):1066-73. [PubMed ]
2. Zielenski J, Rozmahel R, Bozon D, Kerem B, Grzelczak Z, Riordan JR, Rommens J, Tsui LC: Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics. 1991 May;10(1):214-28. [PubMed ]
3. Hillier LW, Fulton RS, Fulton LA, Graves TA, Pepin KH, Wagner-McPherson C, Layman D, Maas J, Jaeger S, Walker R, Wylie K, Sekhon M, Becker MC, O'Laughlin MD, Schaller ME, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Cordes M, Du H, Sun H, Edwards J, Bradshaw-Cordum H, Ali J, Andrews S, Isak A, Vanbrunt A, Nguyen C, Du F, Lamar B, Courtney L, Kalicki J, Ozersky P, Bielicki L, Scott K, Holmes A, Harkins R, Harris A, Strong CM, Hou S, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Leonard S, Rohlfing T, Rock SM, Tin-Wollam AM, Abbott A, Minx P, Maupin R, Strowmatt C, Latreille P, Miller N, Johnson D, Murray J, Woessner JP, Wendl MC, Yang SP, Schultz BR, Wallis JW, Spieth J, Bieri TA, Nelson JO, Berkowicz N, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Bedell JA, Mardis ER, Clifton SW, Chissoe SL, Marra MA, Raymond C, Haugen E, Gillett W, Zhou Y, James R, Phelps K, Iadanoto S, Bubb K, Simms E, Levy R, Clendenning J, Kaul R, Kent WJ, Furey TS, Baertsch RA, Brent MR, Keibler E, Flicek P, Bork P, Suyama M, Bailey JA, Portnoy ME, Torrents D, Chinwalla AT, Gish WR, Eddy SR, McPherson JD, Olson MV, Eichler EE, Green ED, Waterston RH, Wilson RK: The DNA sequence of human chromosome 7. Nature. 2003 Jul 10;424(6945):157-64. [PubMed ]
4. Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Dohner H, Dohner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC: Human chromosome 7: DNA sequence and biology. Science. 2003 May 2;300(5620):767-72. Epub 2003 Apr 10. [PubMed ]
5. Picciotto MR, Cohn JA, Bertuzzi G, Greengard P, Nairn AC: Phosphorylation of the cystic fibrosis transmembrane conductance regulator. J Biol Chem. 1992 Jun 25;267(18):12742-52. [PubMed ]
6. Chang XB, Hou YX, Jensen TJ, Riordan JR: Mapping of cystic fibrosis transmembrane conductance regulator membrane topology by glycosylation site insertion. J Biol Chem. 1994 Jul 15;269(28):18572-5. [PubMed ]
7. Neville DC, Rozanas CR, Price EM, Gruis DB, Verkman AS, Townsend RR: Evidence for phosphorylation of serine 753 in CFTR using a novel metal-ion affinity resin and matrix-assisted laser desorption mass spectrometry. Protein Sci. 1997 Nov;6(11):2436-45. [PubMed ]
8. Pagani F, Buratti E, Stuani C, Romano M, Zuccato E, Niksic M, Giglio L, Faraguna D, Baralle FE: Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element. J Biol Chem. 2000 Jul 14;275(28):21041-7. [PubMed ]
9. Cheng J, Moyer BD, Milewski M, Loffing J, Ikeda M, Mickle JE, Cutting GR, Li M, Stanton BA, Guggino WB: A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression. J Biol Chem. 2002 Feb 1;277(5):3520-9. Epub 2001 Nov 13. [PubMed ]
10. Park M, Ko SB, Choi JY, Muallem G, Thomas PJ, Pushkin A, Lee MS, Kim JY, Lee MG, Muallem S, Kurtz I: The cystic fibrosis transmembrane conductance regulator interacts with and regulates the activity of the HCO3- salvage transporter human Na+-HCO3- cotransport isoform 3. J Biol Chem. 2002 Dec 27;277(52):50503-9. Epub 2002 Oct 25. [PubMed ]
11. Swiatecka-Urban A, Boyd C, Coutermarsh B, Karlson KH, Barnaby R, Aschenbrenner L, Langford GM, Hasson T, Stanton BA: Myosin VI regulates endocytosis of the cystic fibrosis transmembrane conductance regulator. J Biol Chem. 2004 Sep 3;279(36):38025-31. Epub 2004 Jul 9. [PubMed ]
12. McIntosh I, Cutting GR: Cystic fibrosis transmembrane conductance regulator and the etiology and pathogenesis of cystic fibrosis. FASEB J. 1992 Jul;6(10):2775-82. [PubMed ]
13. Aznarez I, Chan EM, Zielenski J, Blencowe BJ, Tsui LC: Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene. Hum Mol Genet. 2003 Aug 15;12(16):2031-40. [PubMed ]
14. Chappe V, Hinkson DA, Zhu T, Chang XB, Riordan JR, Hanrahan JW: Phosphorylation of protein kinase C sites in NBD1 and the R domain control CFTR channel activation by PKA. J Physiol. 2003 Apr 1;548(Pt 1):39-52. Epub 2003 Feb 14. [PubMed ]
15. Wang Y, Du D, Fang L, Yang G, Zhang C, Zeng R, Ullrich A, Lottspeich F, Chen Z: Tyrosine phosphorylated Par3 regulates epithelial tight junction assembly promoted by EGFR signaling. EMBO J. 2006 Nov 1;25(21):5058-70. Epub 2006 Oct 19. [PubMed ]
16. Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. Anal Chem. 2009 Jun 1;81(11):4493-501. [PubMed ]
17. Bomberger JM, Barnaby RL, Stanton BA: The deubiquitinating enzyme USP10 regulates the post-endocytic sorting of cystic fibrosis transmembrane conductance regulator in airway epithelial cells. J Biol Chem. 2009 Jul 10;284(28):18778-89. Epub 2009 Apr 27. [PubMed ]
18. Hoedemaeker FJ, Davidson AR, Rose DR: A model for the nucleotide-binding domains of ABC transporters based on the large domain of aspartate aminotransferase. Proteins. 1998 Feb 15;30(3):275-86. [PubMed ]
19. Karthikeyan S, Leung T, Ladias JA: Structural basis of the Na+/H+ exchanger regulatory factor PDZ1 interaction with the carboxyl-terminal region of the cystic fibrosis transmembrane conductance regulator. J Biol Chem. 2001 Jun 8;276(23):19683-6. Epub 2001 Apr 13. [PubMed ]
20. Tsui LC: Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium. Hum Mutat. 1992;1(3):197-203. [PubMed ]
21. Cutting GR, Kasch LM, Rosenstein BJ, Zielenski J, Tsui LC, Antonarakis SE, Kazazian HH Jr: A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Nature. 1990 Jul 26;346(6282):366-9. [PubMed ]
22. Kerem BS, Zielenski J, Markiewicz D, Bozon D, Gazit E, Yahav J, Kennedy D, Riordan JR, Collins FS, Rommens JM, et al.: Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci U S A. 1990 Nov;87(21):8447-51. [PubMed ]
23. White MB, Krueger LJ, Holsclaw DS Jr, Gerrard BC, Stewart C, Quittell L, Dolganov G, Baranov V, Ivaschenko T, Kapronov NI, et al.: Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT). Genomics. 1991 May;10(1):266-9. [PubMed ]
24. Jones CT, McIntosh I, Keston M, Ferguson A, Brock DJ: Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation. Hum Mol Genet. 1992 Apr;1(1):11-7. [PubMed ]
25. Cheadle JP, Meredith AL, al-Jader LN: A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene. Hum Mol Genet. 1992 May;1(2):123-5. [PubMed ]
26. Lissens W, Bonduelle M, Malfroot A, Dab I, Liebaers I: A serine to proline substitution (S1255P) in the second nucleotide binding fold of the cystic fibrosis gene. Hum Mol Genet. 1992 Sep;1(6):441-2. [PubMed ]
27. Shackleton S, Beards F, Harris A: Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP. Hum Mol Genet. 1992 Sep;1(6):439-40. [PubMed ]
28. Zielenski J, Fujiwara TM, Markiewicz D, Paradis AJ, Anacleto AI, Richards B, Schwartz RH, Klinger KW, Tsui LC, Morgan K: Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population. Am J Hum Genet. 1993 Mar;52(3):609-15. [PubMed ]
29. Mercier B, Lissens W, Novelli G, Kalaydjieva L, De Arce M, Kapranov N, Klain NC, Lenoir G, Chauveau P, Lenaerts C, et al.: Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene. Genomics. 1993 Apr;16(1):296-7. [PubMed ]
30. Nunes V, Chillon M, Dork T, Tummler B, Casals T, Estivill X: A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype. Hum Mol Genet. 1993 Jan;2(1):79-80. [PubMed ]
31. Chillon M, Casals T, Nunes V, Gimenez J, Perez Ruiz E, Estivill X: Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype. Hum Mol Genet. 1993 Oct;2(10):1741-2. [PubMed ]
32. Gasparini P, Marigo C, Bisceglia G, Nicolis E, Zelante L, Bombieri C, Borgo G, Pignatti PF, Cabrini G: Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes. Hum Mutat. 1993;2(5):389-94. [PubMed ]
33. Ghanem N, Costes B, Girodon E, Martin J, Fanen P, Goossens M: Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics. 1994 May 15;21(2):434-6. [PubMed ]
34. Boteva K, Papageorgiou E, Georgiou C, Angastiniotis M, Middleton LT, Constantinou-Deltas CD: Novel cystic fibrosis mutation associated with mild disease in Cypriot patients. Hum Genet. 1994 May;93(5):529-32. [PubMed ]
35. Dork T, Mekus F, Schmidt K, Bosshammer J, Fislage R, Heuer T, Dziadek V, Neumann T, Kalin N, Wulbrand U, et al.: Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients. Hum Genet. 1994 Nov;94(5):533-42. [PubMed ]
36. Greil I, Wagner K, Rosenkranz W: A new missense mutation G1249E in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Hum Hered. 1994 Jul-Aug;44(4):238-40. [PubMed ]
37. Petreska L, Koceva S, Gordova-Muratovska A, Nestorov R, Efremov GD: Identification of two new mutations (711 +3A-->G and V1397E) in CF chromosomes of Albanian and Macedonian origin. Hum Mol Genet. 1994 Jun;3(6):999-1000. [PubMed ]
38. Schaedel C, Kristoffersson AC, Kornfalt R, Holmberg L: A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR. Hum Mol Genet. 1994 Jun;3(6):1001-2. [PubMed ]
39. Chillon M, Casals T, Gimenez J, Nunes V, Estivill X: Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4). Hum Mutat. 1994;3(3):223-30. [PubMed ]
40. Bienvenu T, Petitpretz P, Beldjord C, Kaplan JC: A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene. Hum Mutat. 1994;3(4):395-6. [PubMed ]
41. Mercier B, Verlingue C, Lissens W, Silber SJ, Novelli G, Bonduelle M, Audrezet MP, Ferec C: Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. Am J Hum Genet. 1995 Jan;56(1):272-7. [PubMed ]
42. Jezequel P, Dorval I, Fergelot P, Chauvel B, Le Treut A, Le Gall JY, Le Lannou D, Blayau M: Structural analysis of CFTR gene in congenital bilateral absence of vas deferens. Clin Chem. 1995 Jun;41(6 Pt 1):833-5. [PubMed ]
43. Brancolini V, Cremonesi L, Belloni E, Pappalardo E, Bordoni R, Seia M, Russo S, Padoan R, Giunta A, Ferrari M: Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations. Hum Genet. 1995 Sep;96(3):312-8. [PubMed ]
44. Desgeorges M, Rodier M, Piot M, Demaille J, Claustres M: Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype. Hum Genet. 1995 Dec;96(6):717-20. [PubMed ]
45. Zielenski J, Markiewicz D, Chen HS, Schappert K, Seller A, Durie P, Corey M, Tsui LC: Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Hum Mutat. 1995;5(1):43-7. [PubMed ]
46. Verlingue C, Kapranov NI, Mercier B, Ginter EK, Petrova NV, Audrezet MP, Ferec C: Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles. Hum Mutat. 1995;5(3):205-9. [PubMed ]
47. Romey MC, Desgeorges M, Ray P, Godard P, Demaille J, Claustres M: Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult. Hum Mutat. 1995;6(2):190-1. [PubMed ]
48. Leoni GB, Pitzalis S, Podda R, Zanda M, Silvetti M, Caocci L, Cao A, Rosatelli MC: A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration. J Pediatr. 1995 Aug;127(2):281-3. [PubMed ]
49. Ferec C, Novelli G, Verlingue C, Quere I, Dallapiccola B, Audrezet MP, Mercier B: Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients. Mol Cell Probes. 1995 Apr;9(2):135-7. [PubMed ]
50. Messaoud T, Verlingue C, Denamur E, Pascaud O, Quere I, Fattoum S, Elion J, Ferec C: Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations. Eur J Hum Genet. 1996;4(1):20-4. [PubMed ]
51. Nasr SZ, Strong TV, Mansoura MK, Dawson DC, Collins FS: Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure. Hum Mutat. 1996;7(2):151-4. [PubMed ]
52. Petreska L, Plaseska D, Koceva S, Stavljenic-Rukavina A, Efremov GD: A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin. Hum Mutat. 1996;7(4):374-5. [PubMed ]
53. Bienvenu T, Chertkoff L, Beldjord C, Segal E, Carniglia L, Barreiro C, Kaplan JC: Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients. Hum Mutat. 1996;7(4):376-7. [PubMed ]
54. Hughes DJ, Hill AJ, Macek M Jr, Redmond AO, Nevin NC, Graham CA: Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes. Hum Mutat. 1996;8(4):340-7. [PubMed ]
55. Zielenski J, Patrizio P, Markiewicz D, Asch RH, Tsui LC: Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD). Hum Mutat. 1997;9(2):183-4. [PubMed ]
56. Clavel C, Pennaforte F, Pigeon F, Verlingue C, Birembaut P, Ferec C: Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and delta M1140. Hum Mutat. 1997;9(4):368-9. [PubMed ]
57. Gouya L, Pascaud O, Munck A, Elion J, Denamur E: Novel mutation (A141D) in exon 4 of the CFTR gene identified in an Algerian patient. Hum Mutat. 1997;10(1):86-7. [PubMed ]
58. Casals T, Pacheco P, Barreto C, Gimenez J, Ramos MD, Pereira S, Pinheiro JA, Cobos N, Curvelo A, Vazquez C, Rocha H, Seculi JL, Perez E, Dapena J, Carrilho E, Duarte A, Palacio AM, Nunes V, Lavinha J, Estivill X: Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients. Hum Mutat. 1997;10(5):387-92. [PubMed ]
59. Shrimpton AE, Borowitz D, Swender P: Cystic fibrosis mutation frequencies in upstate New York. Hum Mutat. 1997;10(6):436-42. [PubMed ]
60. Friedman KJ, Leigh MW, Czarnecki P, Feldman GL: Cystic fibrosis transmembrane-conductance regulator mutations among African Americans. Am J Hum Genet. 1998 Jan;62(1):195-6. [PubMed ]
61. Onay T, Topaloglu O, Zielenski J, Gokgoz N, Kayserili H, Camcioglu Y, Cokugras H, Akcakaya N, Apak M, Tsui LC, Kirdar B: Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I). Hum Genet. 1998 Feb;102(2):224-30. [PubMed ]
62. Bombieri C, Benetazzo M, Saccomani A, Belpinati F, Gile LS, Luisetti M, Pignatti PF: Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease. Hum Genet. 1998 Dec;103(6):718-22. [PubMed ]
63. Vankeerberghen A, Wei L, Jaspers M, Cassiman JJ, Nilius B, Cuppens H: Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator. Hum Mol Genet. 1998 Oct;7(11):1761-9. [PubMed ]
64. Malone G, Haworth A, Schwarz MJ, Cuppens H, Super M: Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C). Hum Mutat. 1998;11(2):152-7. [PubMed ]
65. Leoni GB, Pitzalis S, Tonelli R, Cao A: Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin. Hum Mutat. 1998;11(4):337. [PubMed ]
66. Feldmann D, Sardet A, Cougoureux E, Plouvier E, Fontaine JL, Tournier G, Aymard P: Identification of three novel mutations in the CFTR gene, R117P, deltaD192, and 3121-1G-->A in four French patients. Hum Mutat. 1998;Suppl 1:S78-80. [PubMed ]
67. Casals T, Ramos MD, Gimenez J, Nadal M, Nunes V, Estivill X: Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis. Hum Mutat. 1998;Suppl 1:S99-102. [PubMed ]
68. Shackleton S, Harris A: A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene. Hum Mutat. 1998;Suppl 1:S156-7. [PubMed ]
69. Bienvenu T, Bousquet S, Vidaud D, Hubert D, Francoual C, Beldjord C, Kaplan JC: A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. Online. Hum Mutat. 1998;12(3):213-4. [PubMed ]
70. Picci L, Cameran M, Olante P, Zacchello F, Scarpa M: Identification of a D579G homozygote cystic fibrosis patient with pancreatic sufficiency and minor lung involvement. Mutations in brief no. 221. Online. Hum Mutat. 1999;13(2):173. [PubMed ]
71. Ley TJ, Mardis ER, Ding L, Fulton B, McLellan MD, Chen K, Dooling D, Dunford-Shore BH, McGrath S, Hickenbotham M, Cook L, Abbott R, Larson DE, Koboldt DC, Pohl C, Smith S, Hawkins A, Abbott S, Locke D, Hillier LW, Miner T, Fulton L, Magrini V, Wylie T, Glasscock J, Conyers J, Sander N, Shi X, Osborne JR, Minx P, Gordon D, Chinwalla A, Zhao Y, Ries RE, Payton JE, Westervelt P, Tomasson MH, Watson M, Baty J, Ivanovich J, Heath S, Shannon WD, Nagarajan R, Walter MJ, Link DC, Graubert TA, DiPersio JF, Wilson RK: DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature. 2008 Nov 6;456(7218):66-72. [PubMed ]

1. Sodium bicarbonate cotransporter
2. Na(+)/HCO3(-) cotransporter
3. Solute carrier family 4 member 4
4. kNBC1

MEDEAVLDRGASFLKHVCDEEEVEGHHTIYIGVHVPKSYRRRRRHKRKTGHKEKKEKERI
SENYSDKSDIENADESSSSILKPLISPAAERIRFILGEEDDSPAPPQLFTELDELLAVDG
QEMEWKETARWIKFEEKVEQGGERWSKPHVATLSLHSLFELRTCMEKGSIMLDREASSLP
QLVEMIVDHQIETGLLKPELKDKVTYTLLRKHRHQTKKSNLRSLADIGKTVSSASRMFTN
PDNGSPAMTHRNLTSSSLNDISDKPEKDQLKNKFMKKLPRDAEASNVLVGEVDFLDTPFI
AFVRLQQAVMLGALTEVPVPTRFLFILLGPKGKAKSYHEIGRAIATLMSDEVFHDIAYKA
KDRHDLIAGIDEFLDEVIVLPPGEWDPAIRIEPPKSLPSSDKRKNMYSGGENVQMNGDTP
HDGGHGGGGHGDCEELQRTGRFCGGLIKDIKRKAPFFASDFYDALNIQALSAILFIYLAT
VTNAITFGGLLGDATDNMQGVLESFLGTAVSGAIFCLFAGQPLTILSSTGPVLVFERLLF
NFSKDNNFDYLEFRLWIGLWSAFLCLILVATDASFLVQYFTRFTEEGFSSLISFIFIYDA
FKKMIKLADYYPINSNFKVGYNTLFSCTCVPPDPANISISNDTTLAPEYLPTMSSTDMYH
NTTFDWAFLSKKECSKYGGNLVGNNCNFVPDITLMSFILFLGTYTSSMALKKFKTSPYFP
TTARKLISDFAIILSILIFCVIDALVGVDTPKLIVPSEFKPTSPNRGWFVPPFGENPWWV
CLAAAIPALLVTILIFMDQQITAVIVNRKEHKLKKGAGYHLDLFWVAILMVICSLMALPW
YVAATVISIAHIDSLKMETETSAPGEQPKFLGVREQRVTGTLVFILTGLSVFMAPILKFI
PMPVLYGVFLYMGVASLNGVQFMDRLKLLLMPLKHQPDFIYLRHVPLRRVHLFTFLQVLC
LALLWILKSTVAAIIFPVMILALVAVRKGMDYLFSQHDLSFLDDVIPEKDKKKKEDEKKK
KKKKGSLDSDNDDSDCPYSEKVPSIKIPMDIMEQQPFLSDSKPSDRERSPTFLERHTSC

• Band_3_cyto (PF07565 )
• HCO3_cotransp (PF00955 )

• None

• 469-488 505-526 555-580 692-710 726-748 778-797 823-847 882-901 950-967 971-986

ATGGAGGATGAAGCTGTCCTGGACAGAGGGGCTTCCTTCCTCAAGCATGTGTGTGATGAA
GAAGAAGTAGAAGGCCACCATACCATTTACATCGGAGTCCATGTGCCGAAGAGTTACAGG
AGAAGGAGACGTCACAAGAGAAAGACAGGGCACAAAGAAAAGAAGGAAAAGGAGAGAATC
TCTGAGAACTACTCTGACAAATCAGATATTGAAAATGCTGATGAATCCAGCAGCAGCATC
CTAAAACCTCTCATCTCTCCTGCTGCAGAACGCATCCGATTCATCTTGGGAGAGGAGGAT
GACAGCCCAGCTCCCCCTCAGCTCTTCACGGAACTGGATGAGCTGCTGGCCGTGGATGGG
CAGGAGATGGAGTGGAAGGAAACAGCCAGGTGGATCAAGTTTGAAGAAAAAGTGGAACAG
GGTGGGGAAAGATGGAGCAAGCCCCATGTGGCCACATTGTCCCTTCATAGTTTATTTGAG
CTGAGGACATGTATGGAGAAAGGATCCATCATGCTTGATCGGGAGGCTTCTTCTCTCCCA
CAGTTGGTGGAGATGATTGTTGACCATCAGATTGAGACAGGCCTATTGAAACCTGAACTT
AAGGATAAGGTGACCTATACTTTGCTCCGGAAGCACCGGCATCAAACCAAGAAATCCAAC
CTTCGGTCCCTGGCTGACATTGGGAAGACAGTCTCCAGTGCAAGTAGGATGTTTACCAAC
CCTGATAATGGTAGCCCAGCCATGACCCATAGGAATCTGACTTCCTCCAGTCTGAATGAC
ATTTCTGATAAACCGGAGAAGGACCAGCTGAAGAATAAGTTCATGAAAAAATTGCCACGT
GATGCAGAAGCTTCCAACGTGCTTGTTGGGGAGGTTGACTTTTTGGATACTCCTTTCATT
GCCTTTGTTAGGCTACAGCAGGCTGTCATGCTGGGTGCCCTGACTGAAGTTCCTGTGCCC
ACAAGGTTCTTGTTCATTCTCTTAGGTCCTAAGGGGAAAGCCAAGTCCTACCACGAGATT
GGCAGAGCCATTGCCACCCTGATGTCTGATGAGGTGTTCCATGACATTGCTTATAAAGCA
AAAGACAGGCACGACCTGATTGCTGGTATTGATGAGTTCCTAGATGAAGTCATCGTCCTT
CCACCTGGGGAATGGGATCCAGCAATTAGGATAGAGCCTCCTAAGAGTCTTCCATCCTCT
GACAAAAGAAAGAATATGTACTCAGGTGGAGAGAATGTTCAGATGAATGGGGATACGCCC
CATGATGGAGGTCACGGAGGAGGAGGACATGGGGATTGTGAAGAATTGCAGCGAACTGGA
CGGTTCTGTGGTGGACTAATTAAAGACATAAAGAGGAAAGCGCCATTTTTTGCCAGTGAT
TTTTATGATGCTTTAAATATTCAAGCTCTTTCGGCAATTCTCTTCATTTATCTGGCAACT
GTAACTAATGCTATCACTTTTGGAGGACTGCTTGGGGATGCCACTGACAACATGCAGGGC
GTGTTGGAGAGTTTCCTGGGCACTGCTGTCTCTGGAGCCATCTTTTGCCTTTTTGCTGGT
CAACCACTCACTATTCTGAGCAGCACCGGACCTGTCCTAGTTTTTGAGAGGCTTCTATTT
AATTTCAGCAAGGACAATAATTTTGACTATTTGGAGTTTCGCCTTTGGATTGGCCTGTGG
TCCGCCTTCCTATGTCTCATTTTGGTAGCCACTGATGCCAGCTTCTTGGTTCAATACTTC
ACACGTTTCACGGAGGAGGGCTTTTCCTCTCTGATTAGCTTCATCTTTATCTATGATGCT
TTCAAGAAGATGATCAAGCTTGCAGATTACTACCCCATCAACTCCAACTTCAAAGTGGGC
TACAACACTCTCTTTTCCTGTACCTGTGTGCCACCTGACCCAGCTAATATCTCAATATCT
AATGACACCACACTGGCCCCAGAGTATTTGCCAACTATGTCTTCTACTGACATGTACCAT
AATACTACCTTTGACTGGGCATTTTTGTCGAAGAAGGAGTGTTCAAAATACGGAGGAAAC
CTCGTCGGGAACAACTGTAATTTTGTTCCTGATATCACACTCATGTCTTTTATCCTCTTC
TTGGGAACCTACACCTCTTCCATGGCTCTGAAAAAATTCAAAACTAGTCCTTATTTTCCA
ACCACAGCAAGAAAACTGATCAGTGATTTTGCCATTATCTTGTCCATTCTCATCTTTTGT
GTAATAGATGCCCTAGTAGGCGTGGACACCCCAAAACTAATTGTGCCAAGTGAGTTCAAG
CCAACAAGTCCAAACCGAGGTTGGTTCGTTCCACCGTTTGGAGAAAACCCCTGGTGGGTG
TGCCTTGCTGCTGCTATCCCGGCTTTGTTGGTCACTATACTGATTTTCATGGACCAACAA
ATTACAGCTGTGATTGTAAACAGGAAAGAACATAAACTCAAGAAAGGAGCAGGGTATCAC
TTGGATCTCTTTTGGGTGGCCATCCTCATGGTTATATGCTCCCTCATGGCTCTTCCGTGG
TATGTAGCTGCTACGGTCATCTCCATTGCTCACATCGACAGTTTGAAGATGGAGACAGAG
ACTTCTGCACCTGGAGAACAACCAAAGTTTCTAGGAGTGAGGGAACAAAGAGTCACTGGA
ACCCTTGTGTTTATTCTGACTGGTCTGTCAGTCTTTATGGCTCCCATCTTGAAGTTTATA
CCCATGCCTGTACTCTATGGTGTGTTCCTGTATATGGGAGTAGCATCCCTTAATGGTGTG
CAGTTCATGGATCGTCTGAAGCTGCTTCTGATGCCTCTGAAGCATCAGCCTGACTTCATC
TACCTGCGTCATGTTCCTCTGCGCAGAGTCCACCTGTTCACTTTCCTGCAGGTGTTGTGT
CTGGCCCTGCTTTGGATCCTCAAGTCAACGGTGGCTGCTATCATTTTTCCAGTAATGATC
TTGGCACTTGTAGCTGTCAGAAAAGGCATGGACTACCTCTTCTCCCAGCATGACCTCAGC
TTCCTGGATGATGTCATTCCAGAAAAGGACAAGAAAAAGAAGGAGGATGAGAAGAAAAAG
AAAAAGAAGAAGGGAAGTCTGGACAGTGACAATGATGATTCTGACTGCCCATACTCAGAA
AAAGTTCCAAGTATTAAAATTCCAATGGACATCATGGAACAGCAACCTTTCCTAAGCGAT
AGCAAACCTTCTGACAGAGAAAGATCACCAACATTCCTTGAACGCCACACATCATGCTGA

1. Burnham CE, Amlal H, Wang Z, Shull GE, Soleimani M: Cloning and functional expression of a human kidney Na+:HCO3- cotransporter. J Biol Chem. 1997 Aug 1;272(31):19111-4. [PubMed ]
2. Abuladze N, Lee I, Newman D, Hwang J, Boorer K, Pushkin A, Kurtz I: Molecular cloning, chromosomal localization, tissue distribution, and functional expression of the human pancreatic sodium bicarbonate cotransporter. J Biol Chem. 1998 Jul 10;273(28):17689-95. [PubMed ]
3. Choi I, Romero MF, Khandoudi N, Bril A, Boron WF: Cloning and characterization of a human electrogenic Na+-HCO-3 cotransporter isoform (hhNBC). Am J Physiol. 1999 Mar;276(3 Pt 1):C576-84. [PubMed ]
4. Sun XC, Bonanno JA: Identification and cloning of the Na/HCO(3-) cotransporter (NBC) in human corneal endothelium. Exp Eye Res. 2003 Sep;77(3):287-95. [PubMed ]
5. 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 ]
6. Gross E, Hawkins K, Pushkin A, Sassani P, Dukkipati R, Abuladze N, Hopfer U, Kurtz I: Phosphorylation of Ser(982) in the sodium bicarbonate cotransporter kNBC1 shifts the HCO(3)(-) : Na(+) stoichiometry from 3 : 1 to 2 : 1 in murine proximal tubule cells. J Physiol. 2001 Dec 15;537(Pt 3):659-65. [PubMed ]
7. Park K, Hurley PT, Roussa E, Cooper GJ, Smith CP, Thevenod F, Steward MC, Case RM: Expression of a sodium bicarbonate cotransporter in human parotid salivary glands. Arch Oral Biol. 2002 Jan;47(1):1-9. [PubMed ]
8. Gross E, Pushkin A, Abuladze N, Fedotoff O, Kurtz I: Regulation of the sodium bicarbonate cotransporter kNBC1 function: role of Asp(986), Asp(988) and kNBC1-carbonic anhydrase II binding. J Physiol. 2002 Nov 1;544(Pt 3):679-85. [PubMed ]
9. Choi I, Hu L, Rojas JD, Schmitt BM, Boron WF: Role of glycosylation in the renal electrogenic Na+-HCO3- cotransporter (NBCe1). Am J Physiol Renal Physiol. 2003 Jun;284(6):F1199-206. Epub 2003 Feb 25. [PubMed ]
10. Yamada H, Yamazaki S, Moriyama N, Hara C, Horita S, Enomoto Y, Kudo A, Kawakami H, Tanaka Y, Fujita T, Seki G: Localization of NBC-1 variants in human kidney and renal cell carcinoma. Biochem Biophys Res Commun. 2003 Oct 31;310(4):1213-8. [PubMed ]
11. Tatishchev S, Abuladze N, Pushkin A, Newman D, Liu W, Weeks D, Sachs G, Kurtz I: Identification of membrane topography of the electrogenic sodium bicarbonate cotransporter pNBC1 by in vitro transcription/translation. Biochemistry. 2003 Jan 28;42(3):755-65. [PubMed ]
12. Alvarez BV, Loiselle FB, Supuran CT, Schwartz GJ, Casey JR: Direct extracellular interaction between carbonic anhydrase IV and the human NBC1 sodium/bicarbonate co-transporter. Biochemistry. 2003 Oct 28;42(42):12321-9. [PubMed ]
13. Gross E, Fedotoff O, Pushkin A, Abuladze N, Newman D, Kurtz I: Phosphorylation-induced modulation of pNBC1 function: distinct roles for the amino- and carboxy-termini. J Physiol. 2003 Jun 15;549(Pt 3):673-82. Epub 2003 May 2. [PubMed ]
14. Kristensen JM, Kristensen M, Juel C: Expression of Na+/HCO3- co-transporter proteins (NBCs) in rat and human skeletal muscle. Acta Physiol Scand. 2004 Sep;182(1):69-76. [PubMed ]
15. Li HC, Worrell RT, Matthews JB, Husseinzadeh H, Neumeier L, Petrovic S, Conforti L, Soleimani M: Identification of a carboxyl-terminal motif essential for the targeting of Na+-HCO-3 cotransporter NBC1 to the basolateral membrane. J Biol Chem. 2004 Oct 8;279(41):43190-7. Epub 2004 Jul 25. [PubMed ]
16. Pushkin A, Abuladze N, Gross E, Newman D, Tatishchev S, Lee I, Fedotoff O, Bondar G, Azimov R, Ngyuen M, Kurtz I: Molecular mechanism of kNBC1-carbonic anhydrase II interaction in proximal tubule cells. J Physiol. 2004 Aug 15;559(Pt 1):55-65. Epub 2004 Jun 24. [PubMed ]
17. Yang Z, Alvarez BV, Chakarova C, Jiang L, Karan G, Frederick JM, Zhao Y, Sauve Y, Li X, Zrenner E, Wissinger B, Hollander AI, Katz B, Baehr W, Cremers FP, Casey JR, Bhattacharya SS, Zhang K: Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. Hum Mol Genet. 2005 Jan 15;14(2):255-65. Epub 2004 Nov 24. [PubMed ]
18. Abuladze N, Azimov R, Newman D, Sassani P, Liu W, Tatishchev S, Pushkin A, Kurtz I: Critical amino acid residues involved in the electrogenic sodium-bicarbonate cotransporter kNBC1-mediated transport. J Physiol. 2005 Jun 15;565(Pt 3):717-30. Epub 2005 Apr 7. [PubMed ]
19. Igarashi T, Inatomi J, Sekine T, Cha SH, Kanai Y, Kunimi M, Tsukamoto K, Satoh H, Shimadzu M, Tozawa F, Mori T, Shiobara M, Seki G, Endou H: Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities. Nat Genet. 1999 Nov;23(3):264-6. [PubMed ]
20. Dinour D, Chang MH, Satoh J, Smith BL, Angle N, Knecht A, Serban I, Holtzman EJ, Romero MF: A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects. J Biol Chem. 2004 Dec 10;279(50):52238-46. Epub 2004 Oct 7. [PubMed ]
21. Li HC, Szigligeti P, Worrell RT, Matthews JB, Conforti L, Soleimani M: Missense mutations in Na+:HCO3- cotransporter NBC1 show abnormal trafficking in polarized kidney cells: a basis of proximal renal tubular acidosis. Am J Physiol Renal Physiol. 2005 Jul;289(1):F61-71. Epub 2005 Feb 15. [PubMed ]
22. Horita S, Yamada H, Inatomi J, Moriyama N, Sekine T, Igarashi T, Endo Y, Dasouki M, Ekim M, Al-Gazali L, Shimadzu M, Seki G, Fujita T: Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities. J Am Soc Nephrol. 2005 Aug;16(8):2270-8. Epub 2005 Jun 1. [PubMed ]

1. Carbonate dehydratase IV
2. Carbonic anhydrase IV
3. CA-IV

MRMLLALLALSAARPSASAESHWCYEVQAESSNYPCLVPVKWGGNCQKDRQSPINIVTTK
AKVDKKLGRFFFSGYDKKQTWTVQNNGHSVMMLLENKASISGGGLPAPYQAKQLHLHWSD
LPYKGSEHSLDGEHFAMEMHIVHEKEKGTSRNVKEAQDPEDEIAVLAFLVEAGTQVNEGF
QPLVEALSNIPKPEMSTTMAESSLLDLLPKEEKLRHYFRYLGSLTTPTCDEKVVWTVFRE
PIQLHREQILAFSQKLYYDKEQTVSMKDNVRPLQQLGQRTVIKSGAPGRPLPWALPALLG
PMLACLLAGFLR

• Nitrogen Metabolism (map00910 )

• H2CO3 = CO2 + H2O [RN:R00132]

• Carb_anhydrase (PF00194 )

• 1-18

• None

ATGCGGATGCTGCTGGCGCTCCTGGCCCTCTCCGCGGCGCGGCCATCGGCCAGTGCAGAG
TCACACTGGTGCTACGAGGTTCAAGCCGAGTCCTCCAACTACCCCTGCTTGGTGCCAGTC
AAGTGGGGTGGAAACTGCCAGAAGGACCGCCAGTCCCCCATCAACATCGTCACCACCAAG
GCAAAGGTGGACAAAAAACTGGGACGCTTCTTCTTCTCTGGCTACGATAAGAAGCAAACG
TGGACTGTCCAAAATAACGGGCACTCAGTGATGATGTTGCTGGAGAACAAGGCCAGCATT
TCTGGAGGAGGACTGCCTGCCCCATACCAGGCCAAACAGTTGCACCTGCACTGGTCCGAC
TTGCCATATAAGGGCTCGGAGCACAGCCTCGATGGGGAGCACTTTGCCATGGAGATGCAC
ATAGTACATGAGAAAGAGAAGGGGACATCGAGGAATGTGAAAGAGGCCCAGGACCCTGAA
GACGAAATTGCGGTGCTGGCCTTTCTGGTGGAGGCTGGAACCCAGGTGAACGAGGGCTTC
CAGCCACTGGTGGAGGCACTGTCTAATATCCCCAAACCTGAGATGAGCACTACGATGGCA
GAGAGCAGCCTGTTGGACCTGCTCCCCAAGGAGGAGAAACTGAGGCACTACTTCCGCTAC
CTGGGCTCACTCACCACACCGACCTGCGATGAGAAGGTCGTCTGGACTGTGTTCCGGGAG
CCCATTCAGCTTCACAGAGAACAGATCCTGGCATTCTCTCAGAAGCTGTACTACGACAAG
GAACAGACAGTGAGCATGAAGGACAATGTCAGGCCCCTGCAGCAGCTGGGGCAGCGCACG
GTGATAAAGTCCGGGGCCCCGGGTCGGCCGCTGCCCTGGGCCCTGCCTGCCCTGCTGGGC
CCCATGCTGGCCTGCCTGCTGGCCGGCTTCCTGCGATGA

1. Okuyama T, Sato S, Zhu XL, Waheed A, Sly WS: Human carbonic anhydrase IV: cDNA cloning, sequence comparison, and expression in COS cell membranes. Proc Natl Acad Sci U S A. 1992 Feb 15;89(4):1315-9. [PubMed ]
2. Okuyama T, Batanian JR, Sly WS: Genomic organization and localization of gene for human carbonic anhydrase IV to chromosome 17q. Genomics. 1993 Jun;16(3):678-84. [PubMed ]
3. 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 ]
4. Zhu XL, Sly WS: Carbonic anhydrase IV from human lung. Purification, characterization, and comparison with membrane carbonic anhydrase from human kidney. J Biol Chem. 1990 May 25;265(15):8795-801. [PubMed ]
5. Waheed A, Okuyama T, Heyduk T, Sly WS: Carbonic anhydrase IV: purification of a secretory form of the recombinant human enzyme and identification of the positions and importance of its disulfide bonds. Arch Biochem Biophys. 1996 Sep 15;333(2):432-8. [PubMed ]
6. Okuyama T, Waheed A, Kusumoto W, Zhu XL, Sly WS: Carbonic anhydrase IV: role of removal of C-terminal domain in glycosylphosphatidylinositol anchoring and realization of enzyme activity. Arch Biochem Biophys. 1995 Jul 10;320(2):315-22. [PubMed ]
7. Temperini C, Scozzafava A, Vullo D, Supuran CT: Carbonic anhydrase activators. Activation of isozymes I, II, IV, VA, VII, and XIV with l- and d-histidine and crystallographic analysis of their adducts with isoform II: engineering proton-transfer processes within the active site of an enzyme. Chemistry. 2006 Sep 18;12(27):7057-66. [PubMed ]
8. Temperini C, Scozzafava A, Vullo D, Supuran CT: Carbonic anhydrase activators. Activation of isoforms I, II, IV, VA, VII, and XIV with L- and D-phenylalanine and crystallographic analysis of their adducts with isozyme II: stereospecific recognition within the active site of an enzyme and its consequences for the drug design. J Med Chem. 2006 May 18;49(10):3019-27. [PubMed ]
9. Kohler K, Hillebrecht A, Schulze Wischeler J, Innocenti A, Heine A, Supuran CT, Klebe G: Saccharin inhibits carbonic anhydrases: possible explanation for its unpleasant metallic aftertaste. Angew Chem Int Ed Engl. 2007;46(40):7697-9. [PubMed ]
10. Temperini C, Innocenti A, Scozzafava A, Mastrolorenzo A, Supuran CT: Carbonic anhydrase activators: L-Adrenaline plugs the active site entrance of isozyme II, activating better isoforms I, IV, VA, VII, and XIV. Bioorg Med Chem Lett. 2007 Feb 1;17(3):628-35. Epub 2006 Nov 15. [PubMed ]
11. Temperini C, Innocenti A, Guerri A, Scozzafava A, Rusconi S, Supuran CT: Phosph(on)ate as a zinc-binding group in metalloenzyme inhibitors: X-ray crystal structure of the antiviral drug foscarnet complexed to human carbonic anhydrase I. Bioorg Med Chem Lett. 2007 Apr 15;17(8):2210-5. Epub 2007 Feb 8. [PubMed ]
12. Crocetti L, Maresca A, Temperini C, Hall RA, Scozzafava A, Muhlschlegel FA, Supuran CT: A thiabendazole sulfonamide shows potent inhibitory activity against mammalian and nematode alpha-carbonic anhydrases. Bioorg Med Chem Lett. 2009 Mar 1;19(5):1371-5. Epub 2009 Jan 19. [PubMed ]
13. Maresca A, Temperini C, Vu H, Pham NB, Poulsen SA, Scozzafava A, Quinn RJ, Supuran CT: Non-zinc mediated inhibition of carbonic anhydrases: coumarins are a new class of suicide inhibitors. J Am Chem Soc. 2009 Mar 4;131(8):3057-62. [PubMed ]
14. Di Fiore A, Monti SM, Hilvo M, Parkkila S, Romano V, Scaloni A, Pedone C, Scozzafava A, Supuran CT, De Simone G: Crystal structure of human carbonic anhydrase XIII and its complex with the inhibitor acetazolamide. Proteins. 2009 Jan;74(1):164-75. [PubMed ]
15. Stams T, Nair SK, Okuyama T, Waheed A, Sly WS, Christianson DW: Crystal structure of the secretory form of membrane-associated human carbonic anhydrase IV at 2.8-A resolution. Proc Natl Acad Sci U S A. 1996 Nov 26;93(24):13589-94. [PubMed ]
16. Yang Z, Alvarez BV, Chakarova C, Jiang L, Karan G, Frederick JM, Zhao Y, Sauve Y, Li X, Zrenner E, Wissinger B, Hollander AI, Katz B, Baehr W, Cremers FP, Casey JR, Bhattacharya SS, Zhang K: Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. Hum Mol Genet. 2005 Jan 15;14(2):255-65. Epub 2004 Nov 24. [PubMed ]

1. Solute carrier family 4 member 10

MEIKDQGAQMEPLLPTRNDEEAVVDRGGTRSILKTHFEKEDLEGHRTLFIGVHVPLGGRK
SHRRHRHRGHKHRKRDRERDSGLEDGRESPSFDTPSQRVQFILGTEDDDEEHIPHDLFTE
LDEICWREGEDAEWRETARWLKFEEDVEDGGERWSKPYVATLSLHSLFELRSCILNGTVL
LDMHANTLEEIADMVLDQQVSSGQLNEDVRHRVHEALMKQHHHQNQKKLTNRIPIVRSFA
DIGKKQSEPNSMDKNAGQVVSPQSAPACVENKNDVSRENSTVDFSKGLGGQQKGHTSPCG
MKQRHEKGPPHQQEREVDLHFMKKIPPGAEASNILVGELEFLDRTVVAFVRLSPAVLLQG
LAEVPIPTRFLFILLGPLGKGQQYHEIGRSIATLMTDEVFHDVAYKAKDRNDLVSGIDEF
LDQVTVLPPGEWDPSIRIEPPKNVPSQEKRKIPAVPNGTAAHGEAEPHGGHSGPELQRTG
RIFGGLILDIKRKAPYFWSDFRDAFSLQCLASFLFLYCACMSPVITFGGLLGEATEGRIS
AIESLFGASMTGIAYSLFGGQPLTILGSTGPVLVFEKILFKFCKEYGLSYLSLRASIGLW
TATLCIILVATDASSLVCYITRFTEEAFASLICIIFIYEALEKLFELSEAYPINMHNDLE
LLTQYSCNCVEPHNPSNGTLKEWRESNISASDIIWENLTVSECKSLHGEYVGRACGHDHP
YVPDVLFWSVILFFSTVTLSATLKQFKTSRYFPTKVRSIVSDFAVFLTILCMVLIDYAIG
IPSPKLQVPSVFKPTRDDRGWFVTPLGPNPWWTVIAAIIPALLCTILIFMDQQITAVIIN
RKEHKLKKGCGYHLDLLMVAVMLGVCSIMGLPWFVAATVLSITHVNSLKLESECSAPGEQ
PKFLGIREQRVTGLMIFILMGSSVFMTSILKFIPMPVLYGVFLYMGASSLKGIQFFDRIK
LFWMPAKHQPDFIYLRHVPLRKVHLFTIIQMSCLGLLWIIKVSRAAIVFPMMVLALVFVR
KLMDLLFTKRELSWLDDLMPESKKKKLEDAEKEEEQSMLAMEDEGTVQLPLEGHYRDDPS
VINISDEMSKTALWRNLLITADNSKDKESSFPSKSSPS

• Band_3_cyto (PF07565 )
• HCO3_cotransp (PF00955 )

• None

• 510-530 539-559 563-583 597-617 627-647 721-741 763-783 810-830 856-876 913-933 936-956 999-1019

ATGGAGATTAAAGACCAGGGAGCCCAAATGGAGCCGCTGCTGCCTACGAGAAATGATGAA
GAAGCAGTTGTGGATAGAGGTGGAACTCGTTCTATTCTCAAAACACACTTTGAGAAAGAA
GATTTAGAAGGTCATCGAACACTATTTATTGGAGTACATGTGCCCTTGGGAGGAAGAAAA
AGCCATCGACGTCACAGGCATCGTGGTCATAAACACAGAAAGAGAGACAGAGAAAGAGAT
TCAGGATTAGAGGATGGAAGGGAGTCACCTTCTTTTGACACCCCATCACAGAGGGTACAG
TTTATTCTTGGAACCGAGGATGATGACGAGGAACACATTCCTCATGACCTTTTCACAGAA
CTGGATGAGATTTGTTGGCGTGAAGGTGAGGACGCTGAGTGGCGAGAAACAGCCAGGTGG
TTGAAGTTTGAAGAAGATGTGGAAGATGGAGGAGAAAGGTGGAGCAAGCCTTATGTGGCT
ACTCTTTCATTGCACAGCTTGTTTGAATTGAGAAGTTGTATTCTGAATGGAACTGTGTTG
CTGGACATGCATGCCAACACTTTAGAAGAAATTGCAGATATGGTTCTTGACCAACAAGTG
AGCTCAGGTCAGCTGAATGAAGATGTACGCCATAGGGTCCATGAGGCATTGATGAAACAG
CATCATCATCAGAATCAGAAAAAACTCACCAACAGGATTCCCATTGTTCGTTCCTTTGCT
GATATTGGCAAGAAACAGTCAGAACCAAATTCCATGGACAAAAATGCAGGTCAGGTTGTT
TCTCCTCAGTCTGCTCCAGCCTGTGTTGAAAATAAAAATGATGTTAGCAGAGAAAACAGC
ACTGTTGACTTTAGCAAGGGACTGGGAGGCCAACAAAAGGGGCATACTAGTCCATGTGGG
ATGAAACAAAGGCATGAAAAAGGACCTCCACACCAGCAAGAGAGAGAGGTTGATCTGCAT
TTTATGAAAAAGATTCCTCCAGGTGCTGAAGCATCGAACATCTTAGTGGGAGAACTGGAG
TTCTTGGATCGAACAGTAGTTGCGTTTGTCAGGTTGTCTCCAGCTGTATTGCTTCAAGGA
CTGGCTGAAGTCCCAATCCCAACCAGATTTTTGTTCATTCTTCTGGGACCCCTGGGAAAG
GGTCAACAGTACCATGAGATTGGCAGATCAATTGCAACCCTAATGACAGATGAGGTATTT
CATGATGTTGCCTATAAAGCTAAAGATCGTAATGACTTGGTATCAGGAATTGATGAGTTT
CTGGATCAGGTTACTGTTCTCCCTCCTGGAGAATGGGATCCAAGCATTCGAATAGAGCCT
CCCAAAAATGTTCCTTCCCAGGAGAAGAGGAAGATTCCTGCTGTACCAAATGGAACAGCA
GCTCATGGGGAAGCAGAGCCCCACGGAGGACATAGTGGACCTGAACTCCAGCGAACTGGA
AGGATTTTTGGGGGACTTATTTTAGATATCAAAAGAAAAGCTCCATACTTCTGGAGTGAC
TTCAGAGATGCTTTCAGCCTGCAGTGCTTAGCATCTTTTCTATTTCTCTACTGCGCGTGT
ATGTCTCCTGTCATCACGTTTGGAGGACTGCTGGGAGAAGCAACTGAAGGGCGTATAAGT
GCAATTGAATCTCTCTTTGGAGCATCCATGACCGGGATAGCCTATTCTCTCTTTGGTGGA
CAGCCTCTTACCATATTAGGCAGTACAGGACCAGTTTTGGTGTTTGAAAAGATTTTGTTT
AAATTTTGCAAAGAATATGGGCTGTCATACCTATCTTTAAGAGCTAGCATTGGACTTTGG
ACTGCAACTCTATGTATCATACTTGTGGCCACAGATGCTAGTTCCCTTGTCTGCTACATC
ACTCGGTTTACTGAAGAAGCTTTTGCTTCCCTGATTTGCATCATTTTCATTTATGAGGCC
CTGGAGAAGTTGTTTGAACTCAGTGAAGCATATCCAATCAACATGCATAATGATCTGGAA
CTGCTGACACAATACTCGTGTAACTGTGTGGAACCGCATAATCCCAGCAATGGCACATTG
AAGGAATGGAGGGAATCCAATATTTCTGCCTCTGACATAATTTGGGAGAACCTAACTGTG
TCAGAATGCAAATCATTGCATGGAGAGTATGTTGGACGGGCCTGTGGCCATGATCACCCA
TATGTTCCAGATGTTCTATTTTGGTCTGTGATCCTGTTCTTTTCCACAGTTACTCTGTCA
GCCACCCTGAAGCAGTTCAAGACTAGCAGATATTTTCCAACCAAGGTTCGATCCATAGTG
AGTGACTTTGCTGTCTTTCTTACAATTCTGTGTATGGTTTTAATTGACTATGCCATTGGG
ATCCCATCTCCAAAACTACAAGTACCAAGTGTTTTCAAGCCCACTAGAGATGATCGTGGC
TGGTTTGTTACGCCTTTAGGTCCAAACCCATGGTGGACAGTAATAGCTGCTATAATTCCA
GCTCTGCTTTGTACTATTCTAATTTTTATGGACCAACAGATTACAGCTGTCATCATCAAC
AGGAAAGAGCATAAGCTAAAGAAAGGTTGTGGGTACCATCTGGACCTATTAATGGTGGCT
GTCATGCTCGGTGTATGCTCCATCATGGGCCTGCCATGGTTTGTGGCTGCCACAGTCCTC
TCCATCACTCATGTCAATAGCCTAAAACTGGAATCAGAATGCTCAGCTCCAGGAGAACAA
CCCAAATTTCTCGGCATTCGGGAGCAAAGGGTTACTGGGCTTATGATTTTTATTCTTATG
GGTTCATCAGTCTTTATGACCAGTATTCTGAAGTTTATTCCCATGCCAGTGCTATATGGA
GTGTTTCTTTATATGGGTGCTTCATCTCTAAAGGGAATTCAGTTCTTTGATAGGATAAAG
CTCTTCTGGATGCCGGCAAAACATCAACCAGATTTTATATACCTAAGGCACGTACCGCTT
CGAAAAGTGCATCTCTTCACAATTATTCAGATGAGTTGCCTTGGCCTTTTGTGGATAATA
AAAGTTTCAAGAGCTGCTATTGTCTTTCCCATGATGGTGTTAGCCCTGGTATTTGTAAGA
AAGTTGATGGACTTGTTGTTCACGAAGCGGGAACTCAGCTGGTTGGATGATTTGATGCCC
GAGAGTAAGAAAAAGAAACTGGAAGATGCTGAAAAAGAAGAAGAACAAAGTATGCTAGCT
ATGGAAGATGAGGGCACAGTACAACTCCCATTGGAAGGGCACTATAGAGATGATCCATCT
GTGATCAATATATCTGATGAAATGTCAAAGACTGCCTTGTGGAGGAACCTTCTGATTACT
GCCGATAACTCAAAAGATAAGGAGTCAAGCTTTCCTTCCAAAAGCTCCCCTTCCTAA

1. Wang CZ, Yano H, Nagashima K, Seino S: The Na+-driven Cl-/HCO3- exchanger. Cloning, tissue distribution, and functional characterization. J Biol Chem. 2000 Nov 10;275(45):35486-90. [PubMed ]
2. 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 ]
3. 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 ]
4. 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 ]
5. Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. Epub 2008 Jul 31. [PubMed ]

1. Down-regulated in adenoma
2. Protein DRA
3. Solute carrier family 26 member 3

MIEPFGNQYIVARPVYSTNAFEENHKKTGRHHKTFLDHLKVCCSCSPQKAKRIVLSLFPI
ASWLPAYRLKEWLLSDIVSGISTGIVAVLQGLAFALLVDIPPVYGLYASFFPAIIYLFFG
TSRHISVGPFPILSMMVGLAVSGAVSKAVPDRNATTLGLPNNSNNSSLLDDERVRVAAAA
SVTVLSGIIQLAFGILRIGFVVIYLSESLISGFTTAAAVHVLVSQLKFIFQLTVPSHTDP
VSIFKVLYSVFSQIEKTNIADLVTALIVLLVVSIVKEINQRFKDKLPVPIPIEFIMTVIA
AGVSYGCDFKNRFKVAVVGDMNPGFQPPITPDVETFQNTVGDCFGIAMVAFAVAFSVASV
YSLKYDYPLDGNQELIALGLGNIVCGVFRGFAGSTALSRSAVQESTGGKTQIAGLIGAII
VLIVVLAIGFLLAPLQKSVLAALALGNLKGMLMQFAEIGRLWRKDKYDCLIWIMTFIFTI
VLGLGLGLAASVAFQLLTIVFRTQFPKCSTLANIGRTNIYKNKKDYYDMYEPEGVKIFRC
PSPIYFANIGFFRRKLIDAVGFSPLRILRKRNKALRKIRKLQKQGLLQVTPKGFICTVDT
IKDSDEELDNNQIEVLDQPINTTDLPFHIDWNDDLPLNIEVPKISLHSLILDFSAVSFLD
VSSVRGLKSILQEFIRIKVDVYIVGTDDDFIEKLNRYEFFDGEVKSSIFFLTIHDAVLHI
LMKKDYSTSKFNPSQEKDGKIDFTINTNGGLRNRVYEVPVETKF

• STAS (PF01740 )
• Sulfate_transp (PF00916 )

• None

• 77-97 100-120 125-145 176-196 198-218 259-279 286-306 343-363 375-395 412-432 439-459 470-490 644-664 702-722

ATGATTGAACCCTTTGGGAATCAGTATATTGTGGCCAGGCCAGTGTATTCTACAAATGCT
TTTGAGGAAAATCATAAAAAGACAGGAAGACATCATAAGACATTTCTGGATCATCTCAAA
GTGTGTTGTAGCTGTTCCCCACAAAAGGCCAAGAGAATTGTCCTCTCTTTGTTCCCCATA
GCATCTTGGTTGCCAGCATACCGGCTTAAAGAATGGTTGCTCAGTGATATTGTTTCTGGT
ATCAGCACAGGGATTGTGGCCGTACTACAAGGTTTAGCATTTGCTCTGCTGGTCGACATT
CCCCCAGTCTATGGGTTGTATGCATCCTTTTTCCCAGCCATAATCTACCTTTTCTTCGGC
ACTTCCAGACACATATCCGTGGGTCCGTTTCCGATTCTGAGTATGATGGTGGGACTAGCA
GTTTCAGGAGCAGTTTCAAAAGCAGTCCCAGATCGCAATGCAACTACTTTGGGATTGCCT
AACAACTCGAATAATTCTTCACTACTGGATGACGAGAGGGTGAGGGTGGCGGCGGCGGCA
TCAGTCACAGTGCTTTCTGGAATCATCCAGTTGGCTTTTGGGATTCTGCGGATTGGATTT
GTAGTGATATACCTGTCTGAGTCCCTCATCAGTGGCTTCACTACTGCTGCTGCTGTTCAT
GTTTTGGTTTCCCAACTCAAATTCATTTTTCAGTTGACAGTCCCGTCACACACTGATCCA
GTTTCAATTTTCAAAGTACTATACTCTGTATTCTCACAAATAGAGAAGACTAATATTGCA
GACCTGGTGACAGCTCTGATTGTCCTTTTGGTTGTATCCATTGTTAAAGAAATAAATCAG
CGCTTCAAAGACAAACTTCCAGTGCCCATTCCAATCGAATTCATTATGACCGTGATTGCA
GCAGGTGTATCCTACGGCTGTGACTTTAAAAACAGGTTTAAAGTGGCTGTGGTTGGGGAC
ATGAATCCTGGATTTCAGCCCCCTATTACACCTGACGTGGAGACTTTCCAAAACACCGTA
GGAGATTGCTTCGGCATCGCAATGGTTGCATTTGCAGTGGCCTTTTCAGTTGCCAGCGTC
TATTCCCTCAAATACGATTATCCACTTGATGGCAATCAGGAGTTAATAGCCTTGGGACTG
GGTAACATAGTCTGTGGAGTATTCAGAGGATTTGCTGGGAGTACTGCCCTCTCCAGATCA
GCAGTTCAGGAGAGCACAGGAGGCAAAACACAGATTGCTGGGCTTATTGGTGCCATCATC
GTGCTGATTGTCGTTCTAGCCATTGGATTTCTCCTGGCGCCTCTACAAAAGTCCGTCCTG
GCAGCTTTAGCATTGGGAAACTTAAAGGGAATGCTGATGCAGTTTGCTGAAATAGGCAGA
TTGTGGCGAAAGGACAAATATGATTGTTTAATTTGGATCATGACCTTCATCTTCACCATT
GTCCTGGGACTCGGGTTAGGCCTGGCAGCTAGTGTGGCATTTCAACTGCTAACCATCGTG
TTCAGGACCCAATTTCCAAAATGCAGCACGCTGGCTAATATTGGAAGAACCAACATCTAT
AAGAATAAAAAAGATTATTATGATATGTATGAGCCAGAAGGAGTGAAAATTTTCAGATGT
CCATCTCCTATCTACTTTGCAAACATTGGTTTCTTTAGGCGGAAACTTATCGATGCTGTT
GGCTTTAGTCCACTTCGAATTCTACGCAAGCGCAACAAAGCTTTGAGGAAAATCCGAAAA
CTGCAGAAGCAAGGCTTGCTACAAGTGACACCAAAAGGATTTATATGTACTGTTGACACC
ATAAAAGATTCTGACGAAGAGCTGGACAACAATCAGATAGAAGTACTGGACCAGCCAATC
AATACCACAGACCTGCCTTTCCACATTGACTGGAATGATGATCTTCCTCTCAACATTGAG
GTCCCCAAAATCAGCCTCCACAGCCTCATTCTCGACTTTTCAGCAGTGTCCTTTCTTGAT
GTTTCTTCAGTGAGGGGCCTTAAATCGATTTTGCAAGAATTTATCAGGATCAAGGTAGAT
GTGTATATCGTTGGAACTGATGATGACTTCATTGAGAAGCTTAACCGGTATGAATTTTTT
GATGGTGAAGTGAAAAGCTCAATATTTTTCTTAACAATCCATGATGCTGTTTTGCATATT
TTGATGAAGAAAGATTACAGTACTTCAAAGTTTAATCCCAGTCAGGAAAAAGATGGAAAA
ATTGATTTTACCATAAATACAAATGGAGGATTACGTAATCGGGTATATGAGGTGCCAGTT
GAAACAAAATTCTAA

1. Schweinfest CW, Henderson KW, Suster S, Kondoh N, Papas TS: Identification of a colon mucosa gene that is down-regulated in colon adenomas and adenocarcinomas. Proc Natl Acad Sci U S A. 1993 May 1;90(9):4166-70. [PubMed ]
2. 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 ]
3. Sandal NN, Marcker KA: Similarities between a soybean nodulin, Neurospora crassa sulphate permease II and a putative human tumour suppressor. Trends Biochem Sci. 1994 Jan;19(1):19. [PubMed ]
4. Rossmann H, Jacob P, Baisch S, Hassoun R, Meier J, Natour D, Yahya K, Yun C, Biber J, Lackner KJ, Fiehn W, Gregor M, Seidler U, Lamprecht G: The CFTR associated protein CAP70 interacts with the apical Cl-/HCO3- exchanger DRA in rabbit small intestinal mucosa. Biochemistry. 2005 Mar 22;44(11):4477-87. [PubMed ]
5. 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 ]
6. Hoglund P, Haila S, Socha J, Tomaszewski L, Saarialho-Kere U, Karjalainen-Lindsberg ML, Airola K, Holmberg C, de la Chapelle A, Kere J: Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nat Genet. 1996 Nov;14(3):316-9. [PubMed ]
7. Hoglund P, Haila S, Gustavson KH, Taipale M, Hannula K, Popinska K, Holmberg C, Socha J, de la Chapelle A, Kere J: Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene. Hum Mutat. 1998;11(4):321-7. [PubMed ]
8. Hoglund P, Sormaala M, Haila S, Socha J, Rajaram U, Scheurlen W, Sinaasappel M, de Jonge H, Holmberg C, Yoshikawa H, Kere J: Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea. Hum Mutat. 2001 Sep;18(3):233-42. [PubMed ]

1. Sodium bicarbonate cotransporter 2
2. Sodium bicarbonate cotransporter 2b
3. Bicarbonate transporter
4. Solute carrier family 4 member 7

MERFRLEKKLPGPDEEAVVDLGKTSSTVNTKFEKEELESHRAVYIGVHVPFSKESRRRHR
HRGHKHHHRRRKDKESDKEDGRESPSYDTPSQRVQFILGTEDDDEEHIPHDLFTEMDELC
YRDGEEYEWKETARWLKFEEDVEDGGDRWSKPYVATLSLHSLFELRSCILNGTVMLDMRA
STLDEIADMVLDNMIASGQLDESIRENVREALLKRHHHQNEKRFTSRIPLVRSFADIGKK
HSDPHLLERNGEGLSASRHSLRTGLSASNLSLRGESPLSLLLGHLLPSSRAGTPAGSRCT
TPVPTPQNSPPSSPSISRLTSRSSQESQRQAPELLVSPASDDIPTVVIHPPEEDLEAALK
GEEQKNEENVDLTPGILASPQSAPGNLDNSKSGEIKGNGSGGSRENSTVDFSKVDMNFMR
KIPTGAEASNVLVGEVDFLERPIIAFVRLAPAVLLTGLTEVPVPTRFLFLLLGPAGKAPQ
YHEIGRSIATLMTDEIFHDVAYKAKDRNDLLSGIDEFLDQVTVLPPGEWDPSIRIEPPKS
VPSQEKRKIPVFHNGSTPTLGETPKEAAHHAGPELQRTGRLFGGLILDIKRKAPFFLSDF
KDALSLQCLASILFLYCACMSPVITFGGLLGEATEGRISAIESLFGASLTGIAYSLFAGQ
PLTILGSTGPVLVFEKILYKFCRDYQLSYLSLRTSIGLWTSFLCIVLVATDASSLVCYIT
RFTEEAFAALICIIFIYEALEKLFDLGETYAFNMHNNLDKLTSYSCVCTEPPNPSNETLA
QWKKDNITAHNISWRNLTVSECKKLRGVFLGSACGHHGPYIPDVLFWCVILFFTTFFLSS
FLKQFKTKRYFPTKVRSTISDFAVFLTIVIMVTIDYLVGVPSPKLHVPEKFEPTHPERGW
IISPLGDNPWWTLLIAAIPALLCTILIFMDQQITAVIINRKEHKLKKGAGYHLDLLMVGV
MLGVCSVMGLPWFVAATVLSISHVNSLKVESECSAPGEQPKFLGIREQRVTGLMIFILMG
LSVFMTSVLKFIPMPVLYGVFLYMGVSSLKGIQLFDRIKLFGMPAKHQPDLIYLRYVPLW
KVHIFTVIQLTCLVLLWVIKVSAAAVVFPMMVLALVFVRKLMDLCFTKRELSWLDDLMPE
SKKKKEDDKKKKEKEEAERMLQDDDDTVHLPFEGGSLLQIPVKALKYSPDKPVSVKISFE
DEPRKKYVDAETSL

• Band_3_cyto (PF07565 )
• HCO3_cotransp (PF00955 )

• None

• 609-629 638-658 696-716 726-746 818-838 862-882 909-929 955-975 1012-1032 1035-1055 1093-1113

ATGGAAAGATTTCGTCTGGAGAAGAAGTTACCTGGTCCTGATGAAGAAGCTGTTGTGGAT
CTTGGCAAAACTAGCTCAACTGTGAACACCAAGTTTGAAAAAGAAGAACTAGAAAGTCAT
AGAGCTGTATATATTGGTGTTCACGTCCCGTTTAGTAAAGAGAGTCGTCGGCGTCATAGG
CATCGCGGACACAAACATCACCACCGGAGAAGAAAAGATAAAGAATCAGATAAAGAAGAT
GGACGGGAATCTCCTTCTTATGATACACCATCCCAGAGAGTTCAGTTTATCCTTGGTACT
GAAGATGATGATGAAGAACATATTCCCCATGATCTCTTCACGGAAATGGATGAACTGTGT
TACAGAGATGGAGAAGAATATGAATGGAAAGAAACTGCTAGATGGCTGAAATTTGAAGAG
GATGTTGAAGATGGCGGTGACCGATGGAGTAAACCTTATGTGGCAACTCTCTCTTTGCAC
AGTCTTTTTGAACTAAGGAGTTGCATCCTCAATGGAACAGTCATGCTGGATATGAGAGCA
AGCACTCTAGATGAAATAGCAGATATGGTATTAGACAACATGATAGCTTCTGGCCAATTA
GACGAGTCCATACGAGAGAATGTCAGAGAAGCTCTTCTGAAGAGACATCATCATCAGAAT
GAGAAAAGATTCACCAGTCGGATTCCTCTTGTTCGATCTTTTGCAGATATAGGCAAGAAA
CATTCTGACCCTCACTTGCTTGAAAGGAATGGGGAAGGCCTTTCAGCCTCCCGCCACTCT
TTGCGAACAGGTCTGTCTGCCTCAAACCTTTCCTTGAGAGGAGAATCACCTTTATCTCTT
CTTCTTGGTCATCTTCTTCCTTCTTCAAGAGCTGGAACCCCTGCAGGCTCAAGGTGTACA
ACCCCAGTACCCACCCCTCAAAACAGTCCTCCTTCTAGCCCTAGCATCAGCCGCCTGACC
TCCAGAAGTTCCCAAGAGAGTCAGCGTCAGGCCCCAGAACTACTGGTTTCACCTGCCAGT
GATGATATTCCCACAGTAGTAATTCATCCGCCTGAGGAAGACTTAGAAGCAGCGCTGAAA
GGCGAGGAGCAGAAGAATGAGGAAAATGTTGACTTAACTCCAGGTATTTTGGCCTCTCCC
CAGTCTGCTCCTGGAAACTTGGACAATAGTAAAAGTGGAGAAATTAAAGGTAATGGAAGT
GGTGGAAGCAGAGAAAATAGTACTGTTGACTTCAGCAAGGTTGATATGAATTTCATGAGA
AAAATTCCTACGGGTGCTGAGGCATCCAACGTCCTGGTGGGCGAAGTAGACTTTTTGGAA
AGGCCAATAATTGCATTTGTGAGACTGGCTCCTGCTGTCCTCCTTACAGGGTTGACTGAG
GTCCCTGTTCCAACCAGGTTTTTGTTTTTGTTATTGGGTCCAGCGGGCAAGGCACCACAG
TACCATGAAATTGGACGATCAATAGCCACTCTCATGACAGATGAGATTTTCCATGATGTA
GCTTATAAAGCAAAAGACAGAAATGACCTCTTATCTGGAATTGATGAATTTTTAGATCAA
GTAACTGTCCTACCTCCAGGAGAGTGGGATCCTTCTATACGCATAGAACCACCAAAAAGT
GTCCCTTCTCAGGAAAAGAGAAAGATTCCTGTGTTTCACAATGGATCTACCCCCACACTG
GGTGAGACTCCTAAAGAGGCCGCTCATCATGCTGGGCCTGAGCTACAGAGGACTGGACGG
CTTTTTGGTGGTTTGATACTTGACATCAAAAGGAAAGCACCTTTTTTCTTGAGTGACTTC
AAGGATGCATTAAGCCTGCAGTGCCTGGCCTCGATTCTTTTCCTATACTGTGCCTGTATG
TCTCCTGTAATCACTTTTGGAGGGCTGCTTGGAGAAGCTACAGAAGGCAGAATAAGTGCA
ATAGAGTCTCTTTTTGGAGCATCATTAACTGGGATTGCCTATTCATTGTTTGCTGGGCAA
CCTCTAACAATATTGGGGAGCACAGGTCCAGTTCTAGTGTTTGAAAAAATTTTATATAAA
TTCTGCAGAGATTATCAACTTTCTTATCTGTCTTTAAGAACCAGTATTGGTCTGTGGACT
TCTTTTTTGTGCATTGTTTTGGTTGCAACAGATGCAAGCAGCCTTGTGTGTTATATTACT
CGATTTACAGAAGAGGCTTTTGCAGCCCTTATTTGCATCATATTCATCTACGAGGCTTTG
GAGAAGCTCTTTGATTTAGGAGAAACATATGCATTTAATATGCACAACAACTTAGATAAA
CTGACCAGCTACTCATGTGTATGTACTGAACCTCCAAACCCCAGCAATGAAACTCTAGCA
CAATGGAAGAAAGATAATATAACAGCACACAATATTTCCTGGAGAAATCTTACTGTTTCT
GAATGTAAAAAACTTCGTGGTGTATTCTTGGGGTCAGCTTGTGGTCATCATGGACCTTAT
ATTCCAGATGTGCTCTTTTGGTGTGTCATCTTGTTTTTCACAACATTTTTTCTGTCTTCA
TTCCTCAAGCAATTTAAGACCAAGCGTTACTTTCCTACCAAGGTGCGATCGACAATCAGT
GATTTTGCTGTATTTCTCACAATAGTAATAATGGTTACAATTGACTACCTTGTAGGAGTT
CCATCTCCTAAACTTCATGTTCCTGAAAAATTTGAGCCTACTCATCCAGAGAGAGGGTGG
ATCATAAGCCCACTGGGAGATAATCCTTGGTGGACCTTATTAATAGCTGCTATTCCTGCT
TTGCTTTGTACCATTCTCATCTTTATGGATCAACAAATCACAGCTGTAATTATAAACAGA
AAGGAACACAAATTGAAGAAAGGAGCTGGCTATCACCTTGATTTGCTCATGGTTGGCGTT
ATGTTGGGAGTTTGCTCTGTCATGGGACTTCCATGGTTTGTGGCTGCAACAGTGTTGTCA
ATAAGTCATGTCAACAGCTTAAAAGTTGAATCTGAATGTTCTGCTCCAGGGGAACAACCC
AAGTTTTTGGGAATTCGTGAACAGCGGGTTACAGGGCTAATGATTTTTATTCTAATGGGC
CTCTCTGTGTTCATGACTTCAGTCCTAAAGTTTATTCCAATGCCTGTTCTGTATGGTGTT
TTCCTTTATATGGGAGTTTCCTCATTAAAAGGAATCCAGTTATTTGACCGTATAAAATTA
TTTGGAATGCCTGCTAAGCATCAGCCTGATTTGATATACCTCCGTTATGTGCCGCTCTGG
AAGGTCCATATTTTCACAGTCATTCAGCTTACTTGTTTGGTCCTTTTATGGGTGATAAAA
GTTTCAGCTGCTGCAGTGGTTTTTCCCATGATGGTTCTTGCATTAGTGTTTGTGCGCAAA
CTCATGGACCTGTGTTTCACGAAGAGAGAACTTAGTTGGCTTGATGATCTTATGCCAGAA
AGTAAGAAAAAGAAAGAAGATGACAAAAAGAAAAAAGAGAAAGAGGAAGCTGAACGGATG
CTTCAAGATGATGATGATACTGTGCACCTTCCATTTGAAGGGGGAAGTCTCTTGCAAATT
CCAGTCAAGGCCCTAAAATATAGTCCTGATAAACCTGTGAGTGTGAAAATAAGTTTTGAA
GATGAACCAAGAAAGAAATACGTGGATGCTGAAACTTCATTATAG

1. Ishibashi K, Sasaki S, Marumo F: Molecular cloning of a new sodium bicarbonate cotransporter cDNA from human retina. Biochem Biophys Res Commun. 1998 May 19;246(2):535-8. [PubMed ]
2. Pushkin A, Abuladze N, Lee I, Newman D, Hwang J, Kurtz I: Cloning, tissue distribution, genomic organization, and functional characterization of NBC3, a new member of the sodium bicarbonate cotransporter family. J Biol Chem. 1999 Jun 4;274(23):16569-75. [PubMed ]
3. 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 ]
4. 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 ]
5. Park M, Ko SB, Choi JY, Muallem G, Thomas PJ, Pushkin A, Lee MS, Kim JY, Lee MG, Muallem S, Kurtz I: The cystic fibrosis transmembrane conductance regulator interacts with and regulates the activity of the HCO3- salvage transporter human Na+-HCO3- cotransport isoform 3. J Biol Chem. 2002 Dec 27;277(52):50503-9. Epub 2002 Oct 25. [PubMed ]
6. Pushkin A, Abuladze N, Newman D, Muronets V, Sassani P, Tatishchev S, Kurtz I: The COOH termini of NBC3 and the 56-kDa H+-ATPase subunit are PDZ motifs involved in their interaction. Am J Physiol Cell Physiol. 2003 Mar;284(3):C667-73. Epub 2002 Nov 20. [PubMed ]
7. Loiselle FB, Morgan PE, Alvarez BV, Casey JR: Regulation of the human NBC3 Na+/HCO3- cotransporter by carbonic anhydrase II and PKA. Am J Physiol Cell Physiol. 2004 Jun;286(6):C1423-33. Epub 2004 Jan 21. [PubMed ]
8. Brill LM, Salomon AR, Ficarro SB, Mukherji M, Stettler-Gill M, Peters EC: Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. Anal Chem. 2004 May 15;76(10):2763-72. [PubMed ]
9. Reiners J, van Wijk E, Marker T, Zimmermann U, Jurgens K, te Brinke H, Overlack N, Roepman R, Knipper M, Kremer H, Wolfrum U: Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. Hum Mol Genet. 2005 Dec 15;14(24):3933-43. Epub 2005 Nov 21. [PubMed ]
10. Cantin GT, Yi W, Lu B, Park SK, Xu T, Lee JD, Yates JR 3rd: Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis. J Proteome Res. 2008 Mar;7(3):1346-51. Epub 2008 Jan 26. [PubMed ]
11. Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. Epub 2008 Jul 31. [PubMed ]
12. Wollscheid B, Bausch-Fluck D, Henderson C, O'Brien R, Bibel M, Schiess R, Aebersold R, Watts JD: Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins. Nat Biotechnol. 2009 Apr;27(4):378-86. Epub 2009 Apr 6. [PubMed ]
13. Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. Sci Signal. 2009 Aug 18;2(84):ra46. [PubMed ]

1. AH-related protein
2. Adenylate cyclase homolog
3. Germ cell soluble adenylyl cyclase
4. hsAC
5. sAC
6. Testicular soluble adenylyl cyclase

MNTPKEEFQDWPIVRIAAHLPDLIVYGHFSPERPFMDYFDGVLMFVDISGFTAMTEKFSS
AMYMDRGAEQLVEILNYHISAIVEKVLIFGGDILKFAGDALLALWRVERKQLKNIITVVI
KCSLEIHGLFETQEWEEGLDIRVKIGLAAGHISMLVFGDETHSHFLVIGQAVDDVRLAQN
MAQMNDVILSPNCWQLCDRSMIEIESVPDQRAVKVNFLKPPPNFNFDEFFTKCTTFMHYY
PSGEHKNLLRLACTLKPDPELEMSLQKYVMESILKQIDNKQLQGYLSELRPVTIVFVNLM
FEDQDKAEEIGPAIQDAYMHITSVLKIFQGQINKVFMFDKGCSFLCVFGFPGEKVPDELT
HALECAMDIFDFCSQVHKIQTVSIGVASGIVFCGIVGHTVRHEYTVIGQKVNLAARMMMY
YPGIVTCDSVTYNGSNLPAYFFKELPKKVMKGVADSGPLYQYWGRTEKVMFGMACLICNR
KEDYPLLGRNKEINYFMYTMKKFLISNSSQVLMYEGLPGYGKSQILMKIEYLAQGKNHRI
IAISLNKISFHQTFYTIQMFMANVLGLDTCKHYKERQTNLRNKVMTLLDEKFYCLLNDIF
HVQFPISREISRMSTLKKQKQLEILFMKILKLIVKEERIIFIIDEAQFVDSTSWRFMEKL
IRTLPIFIIMSLCPFVNIPCAAARAVIKNRNTTYIVIGAVQPNDISNKICLDLNVSCISK
ELDSYLGEGSCGIPFYCEELLKNLEHHEVLVFQQTESEEKTNRTWNNLFKYSIKLTEKLN
MVTLHSDKESEEVCHLTSGVRLKNLSPPTSLKEISLIQLDSMRLSHQMLVRCAAIIGLTF
TTELLFEILPCWNMKMMIKTLATLVESNIFYCFRNGKELQKALKQNDPSFEVHYRSLSLK
PSEGMDHGEEEQLRELENEVIECHRIRFCNPMMQKTAYELWLKDQRKAMHLKCARFLEED
AHRCDHCRGRDFIPYHHFTVNIRLNALDMDAIKKMAMSHGFKTEEKLILSNSEIPETSAF
FPENRSPEEIREKILNFFDHVLTKMKTSDEDIIPLESCQCEEILEIVILPLAHHFLALGE
NDKALYYFLEIASAYLIFCDNYMAYMYLNEGQKLLKTLKKDKSWSQTFESATFYSLKGEV
CFNMGQIVLAKKMLRKALKLLNRIFPYNLISLFLHIHVEKNRHFHYVNRQAQESPPPGKK
RLAQLYRQTVCLSLLWRIYSYSYLFHCKYYAHLAVMMQMNTALETQNCFQIIKAYLDYSL
YHHLAGYKGVWFKYEVMAMEHIFNLPLKGEGIEIVAYVAETLVFNKLIMGHLDLAIELGS
RALQMWALLQNPNRHYQSLCRLSRCLLLNSRYPQLIQVLGRLWELSVTQEHIFSKAFFYF
VCLDILLYSGFVYRTFEECLEFIHQYENNRILKFHSGLLLGLYSSVAIWYARLQEWDNFY
KFSNRAKNLLPRRTMTLTYYDGISRYMEGQVLHLQKQIKEQSENAQASGEELLKNLENLV
AQNTTGPVFCPRLYHLMAYVCILMGDGQKCGLFLNTALRLSETQGNILEKCWLNMNKESW
YSTSELKEDQWLQTILSLPSWEKIVAGRVNIQDLQKNKFLMRANTVDNHF

• ATP = 3',5'-cyclic AMP + diphosphate [RN:R00089]

• Guanylate_cyc (PF00211 )

• None

• None

ATGAACACTCCAAAAGAAGAATTCCAGGACTGGCCCATAGTCAGAATAGCAGCTCATTTA
CCAGACCTCATTGTCTATGGACATTTCTCCCCAGAGCGACCCTTTATGGATTATTTTGAC
GGAGTCCTGATGTTTGTTGATATTTCAGGTTTTACTGCAATGACTGAGAAGTTCAGCAGT
GCCATGTACATGGACAGAGGGGCTGAGCAGTTGGTGGAGATCCTCAACTACCACATAAGT
GCAATAGTGGAGAAAGTGTTGATTTTTGGAGGAGACATCCTGAAATTTGCAGGTGATGCA
CTGCTAGCCCTGTGGAGGGTGGAGCGAAAGCAGCTGAAAAACATTATCACAGTGGTAATT
AAATGTAGCCTGGAGATCCATGGATTGTTTGAGACCCAGGAGTGGGAAGAAGGCCTAGAC
ATCCGAGTCAAGATAGGACTGGCTGCTGGCCACATCAGCATGTTGGTCTTTGGAGATGAA
ACACACAGCCACTTTCTGGTGATTGGTCAGGCAGTGGACGATGTGCGCCTTGCCCAGAAC
ATGGCTCAGATGAATGATGTTATTCTGTCACCAAACTGCTGGCAGCTCTGTGACCGGAGC
ATGATTGAAATTGAGAGTGTTCCAGATCAGAGAGCAGTTAAGGTTAACTTCTTAAAACCA
CCCCCCAATTTTAATTTTGATGAATTTTTCACAAAGTGTACGACCTTCATGCATTATTAT
CCTTCTGGTGAGCACAAAAACCTCCTGAGGCTTGCATGCACGCTGAAGCCTGATCCTGAA
CTGGAGATGTCCCTACAAAAGTATGTGATGGAAAGCATTTTGAAGCAGATTGATAACAAA
CAGCTTCAGGGCTATTTATCTGAGCTTCGCCCAGTGACGATTGTGTTTGTGAACCTGATG
TTTGAAGACCAAGACAAAGCAGAAGAGATAGGCCCAGCCATCCAGGATGCCTATATGCAC
ATCACTTCTGTCCTGAAGATCTTCCAAGGCCAAATCAATAAAGTCTTCATGTTTGACAAG
GGCTGCTCTTTCCTCTGTGTCTTTGGCTTCCCTGGGGAAAAGGTACCTGACGAGCTCACT
CATGCTCTGGAATGTGCTATGGATATATTTGACTTCTGCTCTCAAGTCCACAAAATCCAA
ACTGTATCCATCGGTGTTGCCAGTGGGATTGTCTTCTGTGGGATCGTTGGACACACTGTG
AGACACGAGTACACAGTCATTGGTCAAAAAGTCAACTTAGCTGCCAGGATGATGATGTAC
TACCCAGGAATTGTGACCTGCGACTCTGTCACCTACAATGGGAGCAACCTACCAGCGTAC
TTTTTTAAAGAGCTTCCAAAGAAAGTTATGAAAGGTGTTGCAGATTCTGGACCATTGTAT
CAGTATTGGGGCCGTACTGAGAAAGTCATGTTTGGTATGGCGTGCCTCATCTGCAACAGA
AAGGAGGATTACCCTTTGCTGGGACGTAATAAAGAGATCAACTACTTCATGTATACTATG
AAGAAATTTTTGATATCTAACAGCAGCCAAGTCTTAATGTATGAGGGATTACCAGGATAT
GGAAAAAGCCAGATACTTATGAAAATTGAGTACCTGGCCCAAGGTAAGAATCACAGGATT
ATTGCCATTTCATTGAATAAGATCAGCTTCCATCAAACTTTCTATACCATCCAGATGTTC
ATGGCCAATGTCCTAGGCCTAGACACTTGTAAACATTATAAAGAACGACAGACCAACCTT
CGAAATAAAGTCATGACACTGTTGGATGAAAAGTTCTACTGTCTTCTTAATGACATTTTC
CATGTTCAGTTCCCTATTTCTCGGGAGATTTCCAGGATGAGCACCTTGAAAAAGCAAAAA
CAATTGGAAATATTGTTTATGAAGATCTTGAAGCTGATAGTGAAAGAGGAAAGGATTATT
TTTATCATTGATGAGGCCCAGTTTGTGGATTCGACCTCCTGGAGATTTATGGAGAAGCTT
ATCCGGACTCTTCCTATCTTCATCATTATGTCCCTGTGTCCCTTCGTTAACATTCCCTGT
GCAGCTGCCAGGGCCGTAATAAAGAACAGGAACACCACCTACATTGTCGTTGGTGCAGTA
CAGCCTAACGACATCTCCAACAAGATCTGTCTTGACCTCAATGTGAGCTGCATCTCCAAA
GAACTGGACTCGTACCTGGGGGAGGGAAGCTGTGGGATTCCATTTTACTGTGAAGAATTG
CTTAAAAACCTGGAACATCATGAGGTACTCGTTTTCCAACAAACGGAGTCTGAGGAAAAG
ACAAATAGGACCTGGAATAACCTGTTCAAGTATTCCATTAAGCTAACAGAGAAGTTAAAC
ATGGTTACTCTCCATAGTGATAAGGAAAGTGAAGAAGTCTGTCACCTCACAAGTGGCGTC
AGACTGAAAAACCTGTCACCTCCAACGTCATTAAAAGAAATCTCTCTGATCCAGCTGGAT
AGCATGAGACTTTCCCACCAAATGCTGGTGAGATGTGCTGCCATCATTGGCCTGACCTTC
ACCACTGAGTTGTTGTTTGAGATTCTCCCCTGTTGGAATATGAAGATGATGATCAAGACC
CTGGCAACCCTAGTGGAATCTAACATTTTTTATTGTTTCCGGAATGGCAAGGAGCTTCAA
AAGGCCCTGAAACAGAATGATCCCTCATTTGAGGTGCACTATCGTTCCTTGTCTCTGAAG
CCCAGTGAAGGGATGGATCACGGTGAAGAGGAACAGCTTCGTGAACTGGAGAATGAGGTG
ATCGAGTGCCACAGGATTCGATTCTGTAACCCTATGATGCAGAAAACAGCCTACGAGCTG
TGGCTCAAGGACCAGAGAAAAGCCATGCACTTGAAATGTGCCCGCTTTTTAGAAGAAGAT
GCCCACAGATGTGACCACTGCCGAGGCAGGGACTTCATTCCCTATCATCACTTCACAGTG
AATATTCGGCTCAACGCTTTAGACATGGATGCCATTAAAAAGATGGCTATGTCTCATGGA
TTTAAAACTGAAGAAAAGCTTATCTTGTCCAACTCAGAGATTCCTGAGACATCTGCATTT
TTTCCTGAAAATCGCAGTCCTGAAGAAATAAGAGAAAAGATCTTGAATTTCTTTGACCAC
GTTTTAACAAAAATGAAGACATCTGACGAAGACATTATCCCTCTGGAATCTTGCCAGTGT
GAAGAAATCCTAGAGATTGTCATCTTGCCTCTGGCCCACCATTTTCTGGCTTTGGGAGAA
AATGACAAAGCCTTATATTACTTCTTAGAAATTGCATCTGCTTATCTCATCTTTTGTGAT
AACTACATGGCATACATGTATTTGAATGAAGGACAGAAGTTGCTAAAAACTCTCAAGAAG
GACAAATCTTGGAGCCAGACATTTGAGTCTGCCACCTTTTACAGCCTCAAAGGTGAGGTC
TGTTTCAATATGGGCCAGATAGTGCTTGCCAAGAAAATGCTGAGGAAGGCACTGAAGCTC
CTCAACCGAATCTTTCCTTACAACTTAATCTCCTTGTTTCTCCATATCCATGTCGAGAAA
AACAGACACTTTCATTATGTGAATCGGCAGGCCCAAGAGAGCCCACCTCCAGGGAAGAAG
AGGCTGGCACAACTTTACCGGCAAACTGTCTGCCTTTCCTTGCTGTGGCGCATCTATAGC
TACAGTTATCTTTTTCACTGCAAGTATTATGCCCACCTGGCAGTTATGATGCAAATGAAT
ACTGCACTGGAAACTCAAAATTGTTTCCAGATCATTAAGGCTTACCTAGACTATTCGCTA
TACCACCACCTGGCTGGCTACAAAGGTGTGTGGTTCAAATATGAAGTCATGGCCATGGAG
CACATCTTCAACCTCCCCCTGAAAGGCGAGGGCATTGAAATCGTGGCATACGTGGCTGAG
ACACTGGTCTTCAACAAGCTCATAATGGGACACCTGGATTTGGCCATTGAGTTAGGCTCC
CGAGCCCTTCAGATGTGGGCACTGCTCCAGAATCCCAACCGACATTATCAGTCCCTCTGC
AGACTTAGCAGATGTCTCCTTCTGAACAGCAGATACCCGCAATTGATCCAGGTGCTGGGG
CGGCTGTGGGAGCTTTCTGTAACACAGGAACACATCTTCAGCAAGGCATTTTTCTATTTT
GTCTGCTTGGACATCCTGCTTTATTCTGGTTTTGTTTATAGAACATTTGAAGAATGTTTG
GAATTCATACACCAATACGAAAACAACAGAATCCTCAAGTTCCACAGTGGACTCCTCCTG
GGACTTTATTCCTCTGTAGCTATCTGGTATGCCAGACTTCAGGAATGGGACAACTTTTAC
AAATTTTCCAATAGAGCTAAAAATCTTTTGCCAAGAAGAACCATGACACTTACTTACTAT
GACGGAATATCTAGGTACATGGAGGGGCAAGTTCTTCACCTTCAAAAACAAATCAAAGAA
CAGTCAGAGAATGCCCAAGCCAGTGGGGAGGAGCTACTCAAGAACTTGGAGAATCTGGTG
GCTCAAAATACCACTGGCCCTGTCTTTTGCCCAAGGCTCTACCACCTGATGGCTTACGTC
TGTATATTAATGGGAGATGGGCAGAAATGTGGCCTCTTCCTGAACACAGCCTTGCGGCTC
TCTGAAACACAGGGGAATATACTGGAGAAATGCTGGCTGAACATGAACAAAGAATCATGG
TACTCAACCTCTGAGTTAAAAGAAGACCAATGGCTTCAGACGATCTTGAGTCTCCCATCA
TGGGAAAAAATTGTAGCAGGCAGGGTAAACATTCAGGATCTTCAAAAAAACAAATTCCTG
ATGAGAGCTAATACCGTGGACAATCATTTCTAA

1. Jaiswal BS, Conti M: Identification and functional analysis of splice variants of the germ cell soluble adenylyl cyclase. J Biol Chem. 2001 Aug 24;276(34):31698-708. Epub 2001 Jun 21. [PubMed ]
2. Reed BY, Gitomer WL, Heller HJ, Hsu MC, Lemke M, Padalino P, Pak CY: Identification and characterization of a gene with base substitutions associated with the absorptive hypercalciuria phenotype and low spinal bone density. J Clin Endocrinol Metab. 2002 Apr;87(4):1476-85. [PubMed ]
3. Litvin TN, Kamenetsky M, Zarifyan A, Buck J, Levin LR: Kinetic properties of "soluble" adenylyl cyclase. Synergism between calcium and bicarbonate. J Biol Chem. 2003 May 2;278(18):15922-6. Epub 2003 Feb 27. [PubMed ]
4. 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 ]
5. 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 ]
6. Zippin JH, Chen Y, Nahirney P, Kamenetsky M, Wuttke MS, Fischman DA, Levin LR, Buck J: Compartmentalization of bicarbonate-sensitive adenylyl cyclase in distinct signaling microdomains. FASEB J. 2003 Jan;17(1):82-4. Epub 2002 Nov 15. [PubMed ]
7. Geng W, Wang Z, Zhang J, Reed BY, Pak CY, Moe OW: Cloning and characterization of the human soluble adenylyl cyclase. Am J Physiol Cell Physiol. 2005 Jun;288(6):C1305-16. Epub 2005 Jan 19. [PubMed ]
8. Schmid A, Sutto Z, Nlend MC, Horvath G, Schmid N, Buck J, Levin LR, Conner GE, Fregien N, Salathe M: Soluble adenylyl cyclase is localized to cilia and contributes to ciliary beat frequency regulation via production of cAMP. J Gen Physiol. 2007 Jul;130(1):99-109. [PubMed ]
9. 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 ]

1. Anion transporter/exchanger protein 9

MSQPRPRYVVDRAAYSLTLFDDEFEKKDRTYPVGEKLRNAFRCSSAKIKAVVFGLLPVLS
WLPKYKIKDYIIPDLLGGLSGGSIQVPQGMAFALLANLPAVNGLYSSFFPLLTYFFLGGV
HQMVPGTFAVISILVGNICLQLAPESKFQVFNNATNESYVDTAAMEAERLHVSATLACLT
AIIQMGLGFMQFGFVAIYLSESFIRGFMTAAGLQILISVLKYIFGLTIPSYTGPGSIVFT
FIDICKNLPHTNIASLIFALISGAFLVLVKELNARYMHKIRFPIPTEMIVVVVATAISGG
CKMPKKYHMQIVGEIQRGFPTPVSPVVSQWKDMIGTAFSLAIVSYVINLAMGRTLANKHG
YDVDSNQEMIALGCSNFFGSFFKIHVICCALSVTLAVDGAGGKSQVASLCVSLVVMITML
VLGIYLYPLPKSVLGALIAVNLKNSLKQLTDPYYLWRKSKLDCCIWVVSFLSSFFLSLPY
GVAVGVAFSVLVVVFQTQFRNGYALAQVMDTDIYVNPKTYNRAQDIQGIKIITYCSPLYF
ANSEIFRQKVIAKTGMDPQKVLLAKQKYLKKQEKRRMRPTQQRRSLFMKTKTVSLQELQQ
DFENAPPTDPNNNQTPANGTSVSYITFSPDSSSPAQSEPPASAEAPGEPSDMLASVPPFV
TFHTLILDMSGVSFVDLMGIKALAKLSSTYGKIGVKVFLVNIHAQVYNDISHGGVFEDGS
LECKHVFPSIHDAVLFAQANARDVTPGHNFQGAPGDAELSLYDSEEDIRSYWDLEQEMFG
SMFHAETLTAL

• STAS (PF01740 )
• Sulfate_transp (PF00916 )

• None

• 43-63 71-91 92-112 115-135 179-199 200-220 222-242 249-269 280-300 332-352 377-397 406-426 474-494

ATGAGCCAGCCCAGGCCCCGCTACGTGGTAGACAGAGCCGCATACTCCCTTACCCTCTTC
GACGATGAGTTTGAGAAGAAGGACCGGACATACCCAGTGGGAGAGAAACTTCGCAATGCC
TTCAGATGTTCCTCAGCCAAGATCAAAGCTGTGGTGTTTGGGCTGCTGCCTGTGCTCTCC
TGGCTCCCCAAGTACAAGATTAAAGACTACATCATTCCTGACCTGCTCGGTGGACTCAGC
GGGGGATCCATCCAGGTCCCACAAGGCATGGCATTTGCTCTGCTGGCCAACCTTCCTGCA
GTCAATGGCCTCTACTCCTCCTTCTTCCCCCTCCTGACCTACTTCTTCCTGGGGGGTGTT
CACCAGATGGTGCCAGGTACCTTTGCCGTTATCAGCATCCTGGTGGGTAACATCTGTCTG
CAGCTGGCCCCAGAGTCGAAATTCCAGGTCTTCAACAATGCCACCAATGAGAGCTATGTG
GACACAGCAGCCATGGAGGCTGAGAGGCTGCACGTGTCAGCTACGCTAGCCTGCCTCACC
GCCATCATCCAGATGGGTCTGGGCTTCATGCAGTTTGGCTTTGTGGCCATCTACCTCTCC
GAGTCCTTCATCCGGGGCTTCATGACGGCCGCCGGCCTGCAGATCCTGATTTCGGTGCTC
AAGTACATCTTCGGACTGACCATCCCCTCCTACACAGGCCCAGGGTCCATCGTCTTTACC
TTCATTGACATTTGCAAAAACCTCCCCCACACCAACATCGCCTCGCTCATCTTCGCTCTC
ATCAGCGGTGCCTTCCTGGTGCTGGTGAAGGAGCTCAATGCTCGCTACATGCACAAGATT
CGCTTCCCCATCCCTACAGAGATGATTGTGGTGGTGGTGGCAACAGCTATCTCCGGGGGC
TGTAAGATGCCCAAAAAGTATCACATGCAGATCGTGGGAGAAATCCAACGCGGGTTCCCC
ACCCCGGTGTCGCCTGTGGTCTCACAGTGGAAGGACATGATAGGCACAGCCTTCTCCCTA
GCCATCGTGAGCTACGTCATCAACCTGGCTATGGGCCGGACCCTGGCCAACAAGCACGGC
TACGACGTGGATTCGAACCAGGAGATGATCGCTCTCGGCTGCAGCAACTTCTTTGGCTCC
TTCTTTAAAATTCATGTCATTTGCTGTGCGCTTTCTGTCACTCTGGCTGTGGATGGAGCT
GGAGGAAAATCCCAGGTGGCCAGCCTGTGTGTGTCTCTGGTGGTGATGATCACCATGCTG
GTCCTGGGGATCTATCTGTATCCTCTCCCTAAGTCTGTGCTAGGAGCCCTGATCGCTGTC
AATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAG
CTGGACTGTTGCATCTGGGTAGTGAGCTTCCTCTCCTCCTTCTTCCTCAGCCTGCCCTAT
GGTGTGGCAGTGGGTGTCGCCTTCTCCGTCCTGGTCGTGGTCTTCCAGACTCAGTTTCGA
AATGGCTATGCACTGGCCCAGGTCATGGACACTGACATTTATGTGAATCCCAAGACCTAT
AATAGGGCCCAGGATATCCAGGGGATTAAAATCATCACGTACTGCTCCCCTCTCTACTTT
GCCAACTCAGAGATCTTCAGGCAAAAGGTCATCGCCAAGACAGGCATGGACCCCCAGAAA
GTATTACTAGCCAAGCAAAAATACCTCAAGAAGCAGGAGAAGCGGAGAATGAGGCCCACA
CAACAGAGGAGGTCTCTATTCATGAAAACCAAGACTGTCTCCCTGCAGGAGCTGCAGCAG
GACTTTGAGAATGCGCCCCCCACCGACCCCAACAACAACCAGACCCCGGCTAACGGCACC
AGCGTGTCCTATATCACCTTCAGCCCTGACAGCTCCTCACCTGCCCAGAGTGAGCCACCA
GCCTCCGCTGAGGCCCCCGGCGAGCCCAGTGACATGCTGGCCAGCGTCCCACCCTTCGTC
ACCTTCCACACCCTCATCCTGGACATGAGTGGAGTCAGCTTCGTGGACTTGATGGGCATC
AAGGCCCTGGCCAAGCTGAGCTCCACCTATGGGAAGATCGGCGTGAAGGTCTTCTTGGTG
AACATCCATGCCCAGGTGTACAATGACATTAGCCATGGAGGCGTCTTTGAGGATGGGAGT
CTAGAATGCAAGCACGTCTTTCCCAGCATACATGACGCAGTCCTCTTTGCCCAGGCAAAT
GCTAGAGACGTGACCCCAGGACACAACTTCCAAGGGGCTCCAGGGGATGCTGAGCTCTCC
TTGTACGACTCAGAGGAGGACATTCGCAGCTACTGGGACTTAGAGCAGGAGATGTTCGGG
AGCATGTTTCACGCAGAGACCCTGACCGCCCTGTGA

1. Lohi H, Kujala M, Makela S, Lehtonen E, Kestila M, Saarialho-Kere U, Markovich D, Kere J: Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9. J Biol Chem. 2002 Apr 19;277(16):14246-54. Epub 2002 Feb 7. [PubMed ]
2. 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 ]
3. 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 ]
4. Xu J, Henriksnas J, Barone S, Witte D, Shull GE, Forte JG, Holm L, Soleimani M: SLC26A9 is expressed in gastric surface epithelial cells, mediates Cl-/HCO3- exchange, and is inhibited by NH4+. Am J Physiol Cell Physiol. 2005 Aug;289(2):C493-505. Epub 2005 Mar 30. [PubMed ]

1. Solute carrier family 26 member 7

MTGAKRKKKSMLWSKMHTPQCEDIIQWCRRRLPILDWAPHYNLKENLLPDTVSGIMLAVQ
QVTQGLAFAVLSSVHPVFGLYGSLFPAIIYAIFGMGHHVATGTFALTSLISANAVERIVP
QNMQNLTTQSNTSVLGLSDFEMQRIHVAAAVSFLGGVIQVAMFVLQLGSATFVVTEPVIS
AMTTGAATHVVTSQVKYLLGMKMPYISGPLGFFYIYAYVFENIKSVRLEALLLSLLSIVV
LVLVKELNEQFKRKIKVVLPVDLVLIIAASFACYCTNMENTYGLEVVGHIPQGIPSPRAP
PMNILSAVITEAFGVALVGYVASLALAQGSAKKFKYSIDDNQEFLAHGLSNIVSSFFFCI
PSAAAMGRTAGLYSTGAKTQVACLISCIFVLIVIYAIGPLLYWLPMCVLASIIVVGLKGM
LIQFRDLKKYWNVDKIDWGIWVSTYVFTICFAANVGLLFGVVCTIAIVIGRFPRAMTVSI
KNMKEMEFKVKTEMDSETLQQVKIISINNPLVFLNAKKFYTDLMNMIQKENACNQPLDDI
SKCEQNTLLNSLSNGNCNEEASQSCPNEKCYLILDCSGFTFFDYSGVSMLVEVYMDCKGR
SVDVLLAHCTASLIKAMTYYGNLDSEKPIFFESVSAAISHIHSNKNLSKLSDHSEV

• STAS (PF01740 )
• Sulfate_transp (PF00916 )

• None

• 76-96 145-165 167-187 203-223 228-248 255-275 307-327 344-364 384-404 405-425 449-469

ATGACAGGAGCAAAGAGGAAAAAGAAAAGCATGCTTTGGAGCAAGATGCATACCCCCCAG
TGTGAAGACATTATACAGTGGTGTAGAAGGCGACTGCCCATTTTGGATTGGGCACCACAT
TACAATCTGAAAGAAAACTTGCTTCCAGACACTGTGTCTGGGATAATGTTGGCAGTTCAA
CAGGTGACCCAAGGATTGGCCTTTGCTGTTCTCTCATCTGTGCACCCAGTGTTTGGTTTA
TATGGGTCTCTGTTTCCTGCCATAATTTATGCCATATTTGGAATGGGACATCATGTTGCC
ACAGGCACCTTTGCCTTGACATCCTTAATATCAGCCAACGCCGTGGAACGGATTGTCCCT
CAGAACATGCAGAATCTCACCACACAGAGTAACACAAGCGTGCTGGGCTTATCCGACTTT
GAAATGCAAAGGATCCACGTTGCTGCAGCAGTTTCCTTCTTGGGAGGTGTGATTCAGGTG
GCCATGTTTGTGCTGCAACTGGGCAGTGCCACATTTGTGGTCACAGAGCCTGTGATCAGC
GCAATGACAACTGGGGCTGCCACCCATGTGGTGACTTCACAAGTCAAATATCTCTTGGGA
ATGAAAATGCCATATATATCCGGACCACTTGGATTCTTTTATATTTATGCATATGTTTTT
GAAAACATCAAGTCTGTGCGACTGGAGGCATTGCTTTTATCCTTGCTGAGCATTGTGGTC
CTTGTTCTTGTTAAAGAGCTGAATGAACAGTTTAAAAGGAAAATTAAAGTTGTTCTTCCT
GTAGATTTAGTTTTGATTATTGCTGCATCATTTGCTTGTTATTGCACCAATATGGAAAAC
ACATATGGATTAGAAGTAGTTGGTCATATTCCACAAGGAATTCCCTCACCTAGAGCTCCC
CCGATGAACATCCTCTCTGCGGTGATCACTGAAGCTTTCGGAGTGGCACTTGTAGGCTAT
GTGGCCTCACTGGCTCTTGCTCAAGGATCTGCCAAAAAATTCAAATATTCAATTGATGAC
AACCAGGAATTTTTGGCCCATGGCCTCAGCAATATAGTTTCTTCATTTTTCTTCTGCATA
CCAAGTGCTGCTGCCATGGGAAGGACGGCTGGCCTGTACAGCACAGGAGCGAAGACACAG
GTGGCTTGTCTAATATCTTGCATTTTCGTCCTTATAGTCATCTATGCAATAGGACCTTTG
CTTTACTGGCTGCCCATGTGTGTCCTTGCAAGCATTATTGTTGTGGGACTGAAGGGAATG
CTAATACAGTTCCGAGATTTAAAAAAATATTGGAATGTGGATAAAATCGATTGGGGAATA
TGGGTCAGTACATATGTATTTACAATATGCTTTGCTGCCAATGTGGGACTGCTGTTTGGT
GTTGTTTGTACCATAGCTATAGTGATAGGACGCTTCCCAAGAGCAATGACTGTAAGTATA
AAAAATATGAAAGAAATGGAATTTAAAGTGAAGACAGAAATGGACAGTGAAACCCTGCAG
CAGGTGAAAATTATCTCAATAAACAACCCGCTTGTTTTCCTGAATGCAAAAAAATTTTAT
ACTGATTTAATGAACATGATCCAAAAGGAAAATGCCTGTAATCAGCCACTTGATGATATC
AGCAAGTGTGAACAAAACACATTGCTTAATTCCCTATCCAATGGCAACTGCAATGAAGAA
GCTTCACAGTCCTGCCCTAATGAGAAGTGTTATTTAATCCTGGATTGCAGTGGATTTACC
TTTTTTGACTATTCTGGAGTCTCCATGCTTGTTGAGGTTTACATGGACTGTAAAGGCAGG
AGTGTGGATGTATTGTTAGCCCATTGTACAGCTTCCTTGATAAAAGCAATGACGTATTAT
GGAAACCTAGACTCAGAGAAACCAATTTTTTTTGAATCGGTATCTGCTGCAATAAGTCAT
ATCCATTCAAATAAGAATTTGAGCAAACTCAGTGACCACAGTGAAGTCTGA

1. Vincourt JB, Jullien D, Kossida S, Amalric F, Girard JP: Molecular cloning of SLC26A7, a novel member of the SLC26 sulfate/anion transporter family, from high endothelial venules and kidney. Genomics. 2002 Feb;79(2):249-56. [PubMed ]
2. Lohi H, Kujala M, Makela S, Lehtonen E, Kestila M, Saarialho-Kere U, Markovich D, Kere J: Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9. J Biol Chem. 2002 Apr 19;277(16):14246-54. Epub 2002 Feb 7. [PubMed ]
3. 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 ]
4. Petrovic S, Ju X, Barone S, Seidler U, Alper SL, Lohi H, Kere J, Soleimani M: Identification of a basolateral Cl-/HCO3- exchanger specific to gastric parietal cells. Am J Physiol Gastrointest Liver Physiol. 2003 Jun;284(6):G1093-103. [PubMed ]
5. Kujala M, Tienari J, Lohi H, Elomaa O, Sariola H, Lehtonen E, Kere J: SLC26A6 and SLC26A7 anion exchangers have a distinct distribution in human kidney. Nephron Exp Nephrol. 2005;101(2):e50-8. Epub 2005 Jun 14. [PubMed ]
6. Xu J, Worrell RT, Li HC, Barone SL, Petrovic S, Amlal H, Soleimani M: Chloride/bicarbonate exchanger SLC26A7 is localized in endosomes in medullary collecting duct cells and is targeted to the basolateral membrane in hypertonicity and potassium depletion. J Am Soc Nephrol. 2006 Apr;17(4):956-67. Epub 2006 Mar 8. [PubMed ]
7. Kujala M, Hihnala S, Tienari J, Kaunisto K, Hastbacka J, Holmberg C, Kere J, Hoglund P: Expression of ion transport-associated proteins in human efferent and epididymal ducts. Reproduction. 2007 Apr;133(4):775-84. [PubMed ]

1. NBCe2
2. Solute carrier family 4 member 5

MKVKEEKAGVGKLDHTNHRRRFPDQKECPPIHIGLPVPTYPQRKTDQKGHLSGLQKVHWG
LRPDQPQQELTGPGSGASSQDSSMDLISRTRSPAAEQLQDILGEEDEAPNPTLFTEMDTL
QHDGDQMEWKESARWIKFEEKVEEGGERWSKPHVSTLSLHSLFELRTCLQTGTVLLDLDS
GSLPQIIDDVIEKQIEDGLLRPELRERVSYVLLRRHRHQTKKPIHRSLADIGKSVSTTNR
SPARSPGAGPSLHHSTEDLRMRQSANYGRLCHAQSRSMNDISLTPNTDQRKNKFMKKIPK
DSEASNVLVGEVDFLDQPFIAFVRLIQSAMLGGVTEVPVPTRFLFILLGPSGRAKSYNEI
GRAIATLMVDDLFSDVAYKARNREDLIAGIDEFLDEVIVLPPGEWDPNIRIEPPKKVPSA
DKRKSVFSLAELGQMNGSVGGGGGAPGGGNGGGGGGGSGGGAGSGGAGGTSSGDDGEMPA
MHEIGEELIWTGRFFGGLCLDIKRKLPWFPSDFYDGFHIQSISAILFIYLGCITNAITFG
GLLGDATDNYQGVMESFLGTAMAGSLFCLFSGQPLIILSSTGPILIFEKLLFDFSKGNGL
DYMEFRLWIGLHSAVQCLILVATDASFIIKYITRFTEEGFSTLISFIFIYDAIKKMIGAF
KYYPINMDFKPNFITTYKCECVAPDTVNTTVFNASAPLAPDTNASLYNLLNLTALDWSLL
SKKECLSYGGRLLGNSCKFIPDLALMSFILFFGTYSMTLTLKKFKFSRYFPTKVRALVAD
FSIVFSILMFCGIDACFGLETPKLHVPSVIKPTRPDRGWFVAPFGKNPWWVYPASILPAL
LVTILIFMDQQITAVIVNRKENKLKKAAGYHLDLFWVGILMALCSFMGLPWYVAATVISI
AHIDSLKMETETSAPGEQPQFLGVREQRVTGIIVFILTGISVFLAPILKCIPLPVLYGVF
LYMGVASLNGIQMGTGGSEFKIQKKLTPFWERCKLFLMPAKHQPDHAFLRHVPLRRIHLF
TLVQILCLAVLWILKSTVAAIIFPVMILGLIIVRRLLDFIFSQHDLAWIDNILPEKEKKE
TDKKRKRKKGAHEDCDEEPQFPPPSVIKIPMESVQSDPQNGIHCIARKRSSSWSYSL

• Band_3_cyto (PF07565 )
• HCO3_cotransp (PF00955 )

• None

• 524-544 567-587 609-629 640-660 739-759 777-797 828-848 874-894 931-951 953-973 1012-1032 1033-1053

ATGAAGGTGAAGGAGGAGAAGGCTGGGGTAGGAAAGCTGGACCACACTAACCACAGGAGG
AGATTTCCGGATCAGAAAGAATGCCCTCCTATCCACATTGGGCTTCCAGTACCCACTTAC
CCTCAAAGAAAAACTGACCAGAAGGGACATCTTTCAGGCCTGCAAAAAGTCCACTGGGGC
CTGCGGCCAGACCAGCCACAGCAGGAACTGACTGGCCCAGGGAGTGGGGCAAGCAGCCAG
GACAGCAGCATGGATCTTATCAGCAGGACTCGGTCCCCAGCTGCTGAGCAGCTCCAGGAC
ATCCTGGGGGAGGAAGATGAGGCTCCCAACCCCACCCTCTTTACAGAGATGGATACTCTG
CAGCATGACGGAGACCAGATGGAGTGGAAGGAGTCAGCCAGGTGGATAAAGTTTGAAGAA
AAGGTAGAGGAAGGCGGCGAACGCTGGAGCAAGCCCCACGTGTCCACACTATCCCTGCAC
AGCCTCTTCGAGCTCCGTACCTGCCTGCAGACGGGGACGGTGCTGCTGGATTTGGACAGT
GGCTCCTTACCACAGATCATAGATGATGTCATTGAGAAGCAGATTGAGGATGGTCTCCTG
CGGCCAGAGCTCCGGGAGAGGGTCAGTTACGTCCTCCTGAGGAGGCACCGCCACCAAACC
AAGAAGCCCATCCACCGCTCCTTAGCTGACATTGGGAAGTCAGTCTCCACCACAAATCGC
AGTCCTGCCCGGAGCCCTGGTGCTGGCCCGAGTCTACACCACTCCACGGAAGACCTGCGG
ATGCGGCAGAGTGCAAATTACGGACGTCTGTGTCATGCCCAGAGCAGAAGCATGAATGAC
ATTTCTCTCACCCCAAACACAGACCAGCGGAAAAACAAATTCATGAAGAAGATCCCCAAG
GACTCAGAAGCGTCCAACGTGCTCGTGGGCGAGGTGGACTTCCTAGACCAGCCATTCATC
GCGTTCGTGCGCCTCATCCAGTCGGCCATGCTGGGAGGAGTGACCGAGGTGCCTGTCCCC
ACCAGATTTCTGTTTATACTACTGGGACCTTCTGGGAGAGCAAAATCCTACAATGAAATT
GGCCGTGCCATTGCAACCCTCATGGTAGATGATCTCTTCAGTGACGTGGCCTACAAAGCC
CGCAATCGGGAAGATCTGATCGCAGGAATTGATGAATTTCTGGATGAGGTCATCGTCCTT
CCTCCTGGAGAATGGGACCCAAATATCCGGATTGAGCCCCCCAAGAAGGTGCCCTCTGCT
GACAAGAGGAAATCTGTGTTCTCCCTAGCAGAGCTGGGCCAGATGAATGGCTCTGTGGGA
GGAGGCGGCGGAGCTCCTGGAGGAGGCAATGGAGGTGGTGGTGGTGGTGGCAGTGGCGGC
GGGGCTGGCAGTGGCGGGGCCGGCGGAACAAGCAGCGGGGATGATGGAGAGATGCCAGCC
ATGCATGAAATCGGGGAGGAACTTATCTGGACAGGAAGGTTCTTCGGTGGCCTGTGTCTG
GATATCAAGAGGAAGTTGCCCTGGTTCCCAAGTGACTTCTATGATGGCTTCCACATTCAG
TCCATCTCTGCCATCCTATTCATCTACCTCGGCTGTATCACCAACGCGATCACCTTTGGT
GGGCTTCTGGGGGATGCCACCGACAATTATCAGGGAGTGATGGAGAGCTTCCTGGGCACT
GCCATGGCTGGCTCCTTGTTCTGCCTCTTCTCGGGACAGCCTCTCATCATTCTCAGCAGC
ACGGGGCCCATCCTCATCTTTGAGAAGCTCCTCTTCGACTTCAGCAAAGGCAATGGCCTG
GACTACATGGAGTTCCGCCTCTGGATTGGCCTACACTCAGCTGTCCAGTGCCTTATCCTA
GTGGCCACAGATGCCAGCTTTATCATCAAATATATCACCCGCTTCACCGAGGAGGGCTTC
TCCACCCTTATCAGCTTCATCTTCATCTACGATGCCATCAAGAAGATGATCGGTGCCTTC
AAGTACTACCCTATCAATATGGACTTCAAGCCAAACTTCATCACTACCTACAAGTGCGAG
TGTGTCGCCCCTGACACAGTGAATACAACCGTGTTCAATGCTTCAGCCCCATTGGCACCA
GACACCAACGCTTCTCTGTACAACCTCCTTAACCTCACAGCGTTGGACTGGTCCCTGCTG
AGCAAGAAGGAGTGTCTGAGCTACGGCGGGCGCCTGCTTGGGAATTCCTGCAAGTTTATC
CCAGACCTGGCGCTCATGTCCTTCATCCTTTTCTTTGGGACATACTCCATGACCCTGACC
CTGAAGAAGTTCAAATTCAGCCGCTATTTTCCTACCAAGGTCCGGGCCCTGGTGGCTGAC
TTTTCCATTGTTTTCTCCATCCTGATGTTCTGTGGAATCGATGCCTGTTTTGGCCTAGAA
ACTCCCAAGCTGCATGTGCCCAGTGTCATCAAGCCAACGCGGCCTGACCGAGGCTGGTTC
GTGGCCCCCTTTGGGAAGAACCCGTGGTGGGTATACCCAGCAAGCATCCTGCCCGCCCTG
CTGGTGACCATCCTGATCTTCATGGACCAGCAGATCACTGCCGTCATTGTCAACCGGAAG
GAGAACAAACTGAAGAAGGCTGCCGGCTACCATCTGGACCTGTTCTGGGTGGGCATCCTC
ATGGCTTTGTGCTCCTTTATGGGGCTCCCCTGGTACGTGGCTGCCACGGTCATCTCCATC
GCCCACATCGACAGCCTCAAGATGGAGACAGAGACCAGTGCCCCTGGGGAGCAGCCCCAG
TTTCTGGGAGTCAGGGAACAGAGAGTAACCGGCATCATCGTCTTCATCCTGACGGGAATC
TCTGTCTTCCTGGCTCCCATCCTAAAGTGTATCCCCCTGCCGGTGCTGTACGGAGTCTTC
CTCTACATGGGCGTGGCCTCCCTGAATGGCATCCAGATGGGGACCGGAGGGTCAGAATTC
AAAATCCAGAAGAAGCTGACTCCATTCTGGGAACGCTGCAAGCTCTTCCTGATGCCAGCC
AAGCACCAGCCGGACCATGCCTTCCTGCGGCACGTGCCGCTGCGCCGGATCCACCTCTTC
ACCCTGGTGCAGATCCTCTGCCTGGCGGTGCTCTGGATCCTCAAATCCACGGTGGCTGCC
ATCATCTTCCCGGTCATGATCCTGGGCCTCATCATCGTTCGAAGGCTTCTGGATTTCATC
TTTTCCCAGCACGACCTGGCCTGGATTGACAACATCCTCCCAGAGAAGGAAAAAAAGGAG
ACAGACAAGAAGAGGAAGAGAAAAAAAGGGGCCCACGAGGACTGTGATGAGGAGCCCCAG
TTCCCTCCTCCCTCGGTTATAAAGATTCCCATGGAAAGTGTCCAATCAGATCCCCAAAAC
GGTATCCACTGCATTGCCAGAAAAAGATCTTCCAGTTGGAGTTACTCACTCTGA

1. Pushkin A, Abuladze N, Newman D, Lee I, Xu G, Kurtz I: Cloning, characterization and chromosomal assignment of NBC4, a new member of the sodium bicarbonate cotransporter family. Biochim Biophys Acta. 2000 Sep 7;1493(1-2):215-8. [PubMed ]
2. Pushkin A, Abuladze N, Newman D, Lee I, Xu G, Kurtz I: Two C-terminal variants of NBC4, a new member of the sodium bicarbonate cotransporter family: cloning, characterization, and localization. IUBMB Life. 2000 Jul;50(1):13-9. [PubMed ]
3. Pushkin A, Abuladze N, Newman D, Tatishchev S, Kurtz I: Genomic organization of the DCTN1-SLC4A5 locus encoding both NBC4 and p150(Glued). Cytogenet Cell Genet. 2001;95(3-4):163-8. [PubMed ]
4. Sassani P, Pushkin A, Gross E, Gomer A, Abuladze N, Dukkipati R, Carpenito G, Kurtz I: Functional characterization of NBC4: a new electrogenic sodium-bicarbonate cotransporter. Am J Physiol Cell Physiol. 2002 Feb;282(2):C408-16. [PubMed ]
5. Virkki LV, Wilson DA, Vaughan-Jones RD, Boron WF: Functional characterization of human NBC4 as an electrogenic Na+-HCO cotransporter (NBCe2). Am J Physiol Cell Physiol. 2002 Jun;282(6):C1278-89. [PubMed ]
6. Xu J, Wang Z, Barone S, Petrovic M, Amlal H, Conforti L, Petrovic S, Soleimani M: Expression of the Na+-HCO-3 cotransporter NBC4 in rat kidney and characterization of a novel NBC4 variant. Am J Physiol Renal Physiol. 2003 Jan;284(1):F41-50. Epub 2002 Aug 13. [PubMed ]
7. 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 ]
8. Damkier HH, Nielsen S, Praetorius J: Molecular expression of SLC4-derived Na+-dependent anion transporters in selected human tissues. Am J Physiol Regul Integr Comp Physiol. 2007 Nov;293(5):R2136-46. Epub 2007 Aug 22. [PubMed ]

1. TU15B
2. Vitelliform macular dystrophy protein 2

MTITYTSQVANARLGSFSRLLLCWRGSIYKLLYGEFLIFLLCYYIIRFIYRLALTEEQQL
MFEKLTLYCDSYIQLIPISFVLGFYVTLVVTRWWNQYENLPWPDRLMSLVSGFVEGKDEQ
GRLLRRTLIRYANLGNVLILRSVSTAVYKRFPSAQHLVQAGFMTPAEHKQLEKLSLPHNM
FWVPWVWFANLSMKAWLGGRIRDPILLQSLLNEMNTLRTQCGHLYAYDWISIPLVYTQVV
TVAVYSFFLTCLVGRQFLNPAKAYPGHELDLVVPVFTFLQFFFYVGWLKVAEQLINPFGE
DDDDFETNWIVDRNLQVSLLAVDEMHQDLPRMEPDMYWNKPEPQPPYTAASAQFRRASFM
GSTFNISLNKEEMEFQPNQEDEEDAHAGIIGRFLGLQSHDHHPPRANSRTKLLWPKRESL
LHEGLPKNHKAAKQNVRGQEDNKAWKLKAVDAFKSAPLYQRPGYYSAPQTPLSPTPMFFP
LEPSAPSKLHSVTGIDTKDKSLKTVSSGAKKSFELLSESDGALMEHPEVSQVRRKTVEFN
LTDMPEIPENHLKEPLEQSPTNIHTTLKDHMDPYWALENRDEAHS

• Bestrophin (PF01062 )

• None

• 26-46 71-91 179-199 271-291

ATGACCATCACTTACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTG
CTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTG
CTCTGCTACTACATCATCCGCTTTATTTATAGGCTGGCCCTCACGGAAGAACAACAGCTG
ATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTC
GTGCTGGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTG
CCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAA
GGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTG
CGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCA
GGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATG
TTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGA
ATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGAGATGAACACCTTGCGTACTCAG
TGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGGTG
ACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCA
GCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAG
TTCTTCTTCTATGTTGGCTGGCTGAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAG
GATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTGTCCCTGTTG
GCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAG
CCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATG
GGCTCCACCTTCAACATCAGCCTGAACAAAGAGGAGATGGAGTTCCAGCCCAATCAGGAG
GACGAGGAGGATGCTCACGCTGGCATCATTGGCCGCTTCCTAGGCCTGCAGTCCCATGAT
CACCATCCTCCCAGGGCAAACTCAAGGACCAAACTACTGTGGCCCAAGAGGGAATCCCTT
CTCCACGAGGGCCTGCCCAAAAACCACAAGGCAGCCAAACAGAACGTTAGGGGCCAGGAA
GACAACAAGGCCTGGAAGCTTAAGGCTGTGGACGCCTTCAAGTCTGCCCCACTGTATCAG
AGGCCAGGCTACTACAGTGCCCCACAGACGCCCCTCAGCCCCACTCCCATGTTCTTCCCC
CTAGAACCATCAGCGCCGTCAAAGCTTCACAGTGTCACAGGCATAGACACCAAAGACAAA
AGCTTAAAGACTGTGAGTTCTGGGGCCAAGAAAAGTTTTGAATTGCTCTCAGAGAGCGAT
GGGGCCTTGATGGAGCACCCAGAAGTATCTCAAGTGAGGAGGAAAACTGTGGAGTTTAAC
CTGACGGATATGCCAGAGATCCCCGAAAATCACCTCAAAGAACCTTTGGAACAATCACCA
ACCAACATACACACTACACTCAAAGATCACATGGATCCTTATTGGGCCTTGGAAAACAGG
GATGAAGCACATTCCTAA

1. Marquardt A, Stohr H, Passmore LA, Kramer F, Rivera A, Weber BH: Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). Hum Mol Genet. 1998 Sep;7(9):1517-25. [PubMed ]
2. Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, Sandgren O, Forsman K, Holmgren G, Andreasson S, Vujic M, Bergen AA, McGarty-Dugan V, Figueroa D, Austin CP, Metzker ML, Caskey CT, Wadelius C: Identification of the gene responsible for Best macular dystrophy. Nat Genet. 1998 Jul;19(3):241-7. [PubMed ]
3. Tsunenari T, Sun H, Williams J, Cahill H, Smallwood P, Yau KW, Nathans J: Structure-function analysis of the bestrophin family of anion channels. J Biol Chem. 2003 Oct 17;278(42):41114-25. Epub 2003 Aug 7. [PubMed ]
4. 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 ]
5. 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 ]
6. Sun H, Tsunenari T, Yau KW, Nathans J: The vitelliform macular dystrophy protein defines a new family of chloride channels. Proc Natl Acad Sci U S A. 2002 Mar 19;99(6):4008-13. [PubMed ]
7. Qu Z, Hartzell HC: Bestrophin Cl- channels are highly permeable to HCO3-. Am J Physiol Cell Physiol. 2008 Jun;294(6):C1371-7. Epub 2008 Apr 9. [PubMed ]
8. Davidson AE, Millar ID, Urquhart JE, Burgess-Mullan R, Shweikh Y, Parry N, O'Sullivan J, Maher GJ, McKibbin M, Downes SM, Lotery AJ, Jacobson SG, Brown PD, Black GC, Manson FD: Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. Am J Hum Genet. 2009 Nov;85(5):581-92. Epub 2009 Oct 22. [PubMed ]
9. Caldwell GM, Kakuk LE, Griesinger IB, Simpson SA, Nowak NJ, Small KW, Maumenee IH, Rosenfeld PJ, Sieving PA, Shows TB, Ayyagari R: Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. Genomics. 1999 May 15;58(1):98-101. [PubMed ]
10. Bakall B, Marknell T, Ingvast S, Koisti MJ, Sandgren O, Li W, Bergen AA, Andreasson S, Rosenberg T, Petrukhin K, Wadelius C: The mutation spectrum of the bestrophin protein--functional implications. Hum Genet. 1999 May;104(5):383-9. [PubMed ]
11. Allikmets R, Seddon JM, Bernstein PS, Hutchinson A, Atkinson A, Sharma S, Gerrard B, Li W, Metzker ML, Wadelius C, Caskey CT, Dean M, Petrukhin K: Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies. Hum Genet. 1999 Jun;104(6):449-53. [PubMed ]
12. Palomba G, Rozzo C, Angius A, Pierrottet CO, Orzalesi N, Pirastu M: A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case. Am J Ophthalmol. 2000 Feb;129(2):260-2. [PubMed ]
13. Lotery AJ, Namperumalsamy P, Jacobson SG, Weleber RG, Fishman GA, Musarella MA, Hoyt CS, Heon E, Levin A, Jan J, Lam B, Carr RE, Franklin A, Radha S, Andorf JL, Sheffield VC, Stone EM: Mutation analysis of 3 genes in patients with Leber congenital amaurosis. Arch Ophthalmol. 2000 Apr;118(4):538-43. [PubMed ]
14. Lotery AJ, Munier FL, Fishman GA, Weleber RG, Jacobson SG, Affatigato LM, Nichols BE, Schorderet DF, Sheffield VC, Stone EM: Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. Invest Ophthalmol Vis Sci. 2000 May;41(6):1291-6. [PubMed ]
15. Marchant D, Gogat K, Boutboul S, Pequignot M, Sternberg C, Dureau P, Roche O, Uteza Y, Hache JC, Puech B, Puech V, Dumur V, Mouillon M, Munier FL, Schorderet DF, Marsac C, Dufier JL, Abitbol M: Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy. Hum Mutat. 2001 Mar;17(3):235. [PubMed ]
16. Eksandh L, Bakall B, Bauer B, Wadelius C, Andreasson S: Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene. Ophthalmic Genet. 2001 Jun;22(2):107-15. [PubMed ]
17. Yanagi Y, Sekine H, Mori M: Identification of a novel VMD2 mutation in Japanese patients with Best disease. Ophthalmic Genet. 2002 Jun;23(2):129-33. [PubMed ]
18. Marchant D, Gogat K, Dureau P, Sainton K, Sternberg C, Gadin S, Dollfus H, Brasseur G, Hache JC, Dumur V, Puech V, Munier F, Schorderet DF, Marsac C, Menasche M, Dufier JL, Abitbol M: Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy. Ophthalmic Genet. 2002 Sep;23(3):167-74. [PubMed ]
19. Kramer F, Mohr N, Kellner U, Rudolph G, Weber BH: Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD). Hum Mutat. 2003 Nov;22(5):418. [PubMed ]
20. Seddon JM, Sharma S, Chong S, Hutchinson A, Allikmets R, Adelman RA: Phenotype and genotype correlations in two best families. Ophthalmology. 2003 Sep;110(9):1724-31. [PubMed ]
21. Li Y, Wang GL, Dong B: Gene Symbol: VMD2. Disease: Best vitelliform macular dystrophy (VMD2). Hum Genet. 2004 May;114(6):608. [PubMed ]
22. Yardley J, Leroy BP, Hart-Holden N, Lafaut BA, Loeys B, Messiaen LM, Perveen R, Reddy MA, Bhattacharya SS, Traboulsi E, Baralle D, De Laey JJ, Puech B, Kestelyn P, Moore AT, Manson FD, Black GC: Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3683-9. [PubMed ]
23. Burgess R, Millar ID, Leroy BP, Urquhart JE, Fearon IM, De Baere E, Brown PD, Robson AG, Wright GA, Kestelyn P, Holder GE, Webster AR, Manson FD, Black GC: Biallelic mutation of BEST1 causes a distinct retinopathy in humans. Am J Hum Genet. 2008 Jan;82(1):19-31. [PubMed ]
24. Atchaneeyasakul LO, Jinda W, Sakolsatayadorn N, Trinavarat A, Ruangvoravate N, Thanasombatskul N, Thongnoppakhun W, Limwongse C: Mutation analysis of the VMD2 gene in thai families with best macular dystrophy. Ophthalmic Genet. 2008 Sep;29(3):139-44. [PubMed ]
25. Boon CJ, Theelen T, Hoefsloot EH, van Schooneveld MJ, Keunen JE, Cremers FP, Klevering BJ, Hoyng CB: Clinical and molecular genetic analysis of best vitelliform macular dystrophy. Retina. 2009 Jun;29(6):835-47. [PubMed ]

1. Vitelliform macular dystrophy 2-like protein 1

MTVTYTARVANARFGGFSQLLLLWRGSIYKLLWRELLCFLGFYMALSAAYRFVLTEGQKR
YFEKLVIYCDQYASLIPVSFVLGFYVTLVVNRWWSQYLCMPLPDALMCVVAGTVHGRDDR
GRLYRRTLMRYAGLSAVLILRSVSTAVFKRFPTIDHVVEAGFMTREERKKFENLNSSYNK
YWVPCVWFSNLAAQARREGRIRDNSALKLLLEELNVFRGKCGMLFHYDWISVPLVYTQVV
TIALYSYFLACLIGRQFLDPAQGYKDHDLDLCVPIFTLLQFFFYAGWLKVAEQLINPFGE
DDDDFETNFLIDRNFQVSMLAVDEMYDDLAVLEKDLYWDAAEARAPYTAATVFQLRQPSF
QGSTFDITLAKEDMQFQRLDGLDGPMGEAPGDFLQRLLPAGAGMVAGGPLGRRLSFLLRK
NSCVSEASTGASCSCAVVPEGAAPECSCGDPLLDPGLPEPEAPPPAGPEPLTLIPGPVEP
FSIVTMPGPRGPAPPWLPSPIGEEEENLA

• Bestrophin (PF01062 )

• None

• 26-46 71-91 179-199 271-291

ATGACCGTCACCTACACAGCCCGAGTGGCGAACGCCCGCTTCGGTGGCTTCTCCCAGCTG
CTGCTACTGTGGCGTGGGAGCATCTACAAACTCCTGTGGCGAGAGCTGCTCTGCTTCCTT
GGGTTCTACATGGCGCTGAGTGCTGCCTACCGCTTTGTGCTGACCGAAGGGCAGAAGCGC
TACTTCGAGAAGCTTGTGATTTATTGTGACCAGTATGCCAGCCTCATCCCTGTCTCCTTC
GTGCTTGGCTTTTATGTGACGCTGGTGGTGAACCGCTGGTGGAGCCAGTACCTATGCATG
CCGCTGCCCGACGCGCTCATGTGCGTGGTGGCGGGCACCGTGCACGGACGCGACGACCGC
GGCCGCCTCTACCGGCGCACACTCATGCGCTACGCAGGGCTCTCGGCCGTGCTCATCCTG
CGCTCCGTCAGCACCGCGGTGTTCAAGCGCTTCCCCACCATAGACCACGTGGTGGAGGCT
GGGTTTATGACCCGCGAGGAGCGCAAGAAGTTTGAAAACCTGAACTCATCCTACAACAAG
TACTGGGTGCCCTGCGTCTGGTTCTCCAACCTGGCGGCACAGGCCCGACGCGAGGGCCGC
ATCCGCGACAACAGCGCCCTTAAGCTGCTGCTCGAGGAGCTGAATGTTTTTCGGGGCAAA
TGTGGAATGCTCTTTCACTATGACTGGATTAGCGTACCCCTCGTGTACACGCAGGTGGTG
ACCATCGCACTGTACAGCTACTTCCTGGCTTGCCTCATTGGTCGCCAGTTCCTGGACCCG
GCTCAGGGTTACAAAGACCACGACCTAGACCTGTGTGTGCCCATCTTCACCCTCTTGCAG
TTCTTCTTCTACGCCGGCTGGCTCAAGGTAGCTGAGCAGCTCATCAACCCCTTCGGAGAG
GACGATGATGACTTTGAGACCAACTTTCTGATCGATAGAAACTTCCAGGTGTCCATGCTG
GCAGTGGACGAGATGTATGATGACCTGGCTGTGCTGGAGAAGGACTTGTACTGGGATGCA
GCCGAGGCTCGCGCCCCATACACAGCGGCTACTGTCTTCCAGCTGCGGCAGCCTTCCTTC
CAGGGCTCCACCTTTGACATCACGCTGGCCAAAGAAGACATGCAGTTCCAGCGGCTGGAC
GGCTTGGATGGACCGATGGGAGAGGCGCCCGGCGACTTCCTGCAGCGCCTCCTGCCGGCG
GGCGCGGGCATGGTCGCGGGAGGCCCGCTGGGCCGGCGCCTGTCCTTTCTACTCCGCAAG
AACAGCTGCGTGTCGGAGGCGTCTACTGGGGCCAGCTGCTCATGCGCGGTTGTCCCCGAA
GGCGCGGCCCCGGAGTGCAGCTGCGGGGACCCGCTGCTCGACCCCGGCCTGCCGGAGCCC
GAGGCCCCGCCCCCTGCGGGTCCCGAACCGCTTACCCTCATCCCTGGGCCTGTCGAGCCC
TTCAGCATCGTGACCATGCCCGGGCCCCGGGGTCCGGCGCCACCCTGGCTGCCCAGCCCT
ATTGGCGAGGAGGAGGAGAATCTGGCCTGA

1. Stohr H, Marquardt A, Nanda I, Schmid M, Weber BH: Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family. Eur J Hum Genet. 2002 Apr;10(4):281-4. [PubMed ]
2. Tsunenari T, Sun H, Williams J, Cahill H, Smallwood P, Yau KW, Nathans J: Structure-function analysis of the bestrophin family of anion channels. J Biol Chem. 2003 Oct 17;278(42):41114-25. Epub 2003 Aug 7. [PubMed ]
3. 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 ]
4. Sun H, Tsunenari T, Yau KW, Nathans J: The vitelliform macular dystrophy protein defines a new family of chloride channels. Proc Natl Acad Sci U S A. 2002 Mar 19;99(6):4008-13. [PubMed ]
5. Qu Z, Hartzell HC: Bestrophin Cl- channels are highly permeable to HCO3-. Am J Physiol Cell Physiol. 2008 Jun;294(6):C1371-7. Epub 2008 Apr 9. [PubMed ]

1. Vitelliform macular dystrophy 2-like protein 3

MTVTYSSKVANATFFGFHRLLLKWRGSIYKLLYREFIVFAVLYTAISLVYRLLLTGVQKR
YFEKLSIYCDRYAEQIPVTFVLGFYVTLVVNRWWNQFVNLPWPDRLMFLISSSVHGSDEH
GRLLRRTLMRYVNLTSLLIFRSVSTAVYKRFPTMDHVVEAGFMTTDERKLFNHLKSPHLK
YWVPFIWFGNLATKARNEGRIRDSVDLQSLMTEMNRYRSWCSLLFGYDWVGIPLVYTQVV
TLAVYTFFFACLIGRQFLDPTKGYAGHDLDLYIPIFTLLQFFFYAGWLKVAEQLINPFGE
DDDDFETNWCIDRNLQVSLLAVDEMHMSLPKMKKDIYWDDSAARPPYTLAAADYCIPSFL
GSTVQMGLSGSDFPDEEWLWDYEKHGHRHSMIRRVKRFLSAHEHPSSPRRRSYRRQTSDS
SMFLPRDDLSPARDLLDVPSRNPPRASPTWKKSCFPEGSPTLHFSMGELSTIRETSQTST
LQSLTPQSSVRTSPIKMPLVPEVLITAAEAPVPTSGGYHHDSATSILSSEFTGVQPSKTE
QQQGPMGSILSPSEKETPPGGPSPQTVSASAEENIFNCEEDPGDTFLKRWSLPGFLGSSH
TSLGNLSPDPMSSQPALLIDTETSSEISGINIVAGSRVSSDMLYLMENLDTKETDIIELN
KETEESPK

• Bestrophin (PF01062 )

• None

• 26-46 71-91 179-199 271-291

ATGACTGTCACTTACTCCAGTAAAGTAGCAAATGCAACTTTTTTTGGATTTCATAGGTTA
CTCCTCAAGTGGAGAGGCAGCATCTACAAACTACTGTACAGGGAATTTATTGTTTTTGCT
GTTCTTTATACAGCAATAAGTTTGGTATACAGATTGTTACTTACAGGAGTCCAAAAACGT
TACTTTGAAAAATTATCAATTTACTGTGACAGATATGCTGAACAAATTCCAGTAACCTTT
GTGCTTGGGTTTTATGTTACTCTGGTAGTGAACCGATGGTGGAACCAGTTTGTGAATTTG
CCCTGGCCAGACAGGCTAATGTTCCTCATCTCTAGCAGTGTTCACGGAAGCGACGAGCAC
GGGCGCCTGCTTAGAAGGACGCTGATGCGCTACGTCAATCTCACCTCCCTGCTCATCTTT
CGCTCGGTGAGCACTGCTGTGTACAAAAGATTTCCCACAATGGACCACGTGGTTGAAGCA
GGTTTTATGACAACAGATGAAAGGAAATTATTCAACCACCTCAAGTCTCCTCATCTGAAA
TATTGGGTTCCATTCATCTGGTTTGGAAATCTTGCAACTAAAGCCCGGAATGAAGGTAGA
ATCAGAGACAGTGTTGATCTGCAATCATTGATGACTGAAATGAATCGATACCGCTCTTGG
TGCAGCCTCTTATTCGGTTATGACTGGGTTGGGATTCCGCTGGTTTACACCCAGGTTGTC
ACTCTTGCTGTCTATACCTTCTTCTTTGCGTGCCTGATTGGACGCCAGTTTTTGGATCCC
ACCAAAGGCTACGCAGGGCATGACTTGGATCTTTACATTCCCATCTTCACCCTCCTACAA
TTCTTCTTCTATGCAGGATGGCTTAAGGTAGCAGAGCAGCTTATCAACCCTTTTGGAGAA
GATGATGATGATTTTGAAACTAACTGGTGCATTGACAGAAATTTGCAGGTCTCTCTTTTA
GCTGTGGACGAAATGCACATGAGCTTACCCAAGATGAAGAAGGACATTTACTGGGACGAT
TCTGCTGCTCGCCCACCATACACATTGGCAGCTGCTGACTACTGCATACCCTCATTTCTG
GGGTCAACAGTCCAGATGGGGCTGTCTGGGTCCGACTTTCCTGACGAGGAGTGGCTGTGG
GATTATGAGAAGCATGGCCATCGGCATTCCATGATAAGAAGAGTCAAGCGGTTCCTGAGT
GCCCACGAACACCCCTCCAGCCCCAGAAGAAGAAGCTACAGGAGGCAGACAAGTGACAGC
TCCATGTTCTTACCCCGAGATGACCTCAGCCCAGCCAGGGACCTACTGGATGTGCCCTCA
AGAAACCCCCCCAGGGCCTCACCCACCTGGAAGAAATCCTGCTTCCCAGAAGGAAGCCCC
ACGCTGCACTTCAGCATGGGAGAGCTGTCCACCATCAGGGAGACCAGCCAGACAAGCACT
TTACAGAGCCTGACCCCACAGTCCAGTGTGAGAACTTCCCCCATCAAAATGCCACTGGTA
CCTGAGGTATTGATCACAGCAGCCGAAGCACCAGTGCCCACATCAGGGGGCTACCACCAT
GATTCCGCTACCTCCATCTTGAGCTCTGAGTTTACAGGGGTTCAGCCAAGCAAGACTGAG
CAGCAGCAGGGCCCCATGGGATCCATCCTGTCTCCCTCAGAGAAGGAGACACCTCCTGGA
GGCCCCAGTCCCCAGACAGTTTCAGCCAGCGCTGAGGAAAATATATTCAACTGTGAAGAA
GACCCTGGTGATACCTTTCTAAAAAGGTGGAGTCTTCCGGGATTCCTGGGGTCCAGCCAC
ACTTCCCTGGGAAACCTAAGTCCAGACCCCATGAGCTCTCAGCCAGCTCTTTTAATTGAC
ACAGAAACATCCTCAGAGATCAGTGGGATCAACATTGTGGCTGGCTCTCGAGTCTCTTCT
GATATGCTGTATTTAATGGAAAACCTGGACACCAAGGAAACAGATATCATAGAGCTGAAC
AAGGAAACTGAGGAATCACCCAAATGA

1. Stohr H, Marquardt A, Nanda I, Schmid M, Weber BH: Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family. Eur J Hum Genet. 2002 Apr;10(4):281-4. [PubMed ]
2. Tsunenari T, Sun H, Williams J, Cahill H, Smallwood P, Yau KW, Nathans J: Structure-function analysis of the bestrophin family of anion channels. J Biol Chem. 2003 Oct 17;278(42):41114-25. Epub 2003 Aug 7. [PubMed ]
3. 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 ]
4. 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 ]

1. Vitelliform macular dystrophy 2-like protein 2

MTVSYTLKVAEARFGGFSGLLLRWRGSIYKLLYKEFLLFGALYAVLSITYRLLLTQEQRY
VYAQVARYCNRSADLIPLSFVLGFYVTLVVNRWWSQYTSIPLPDQLMCVISASVHGVDQR
GRLLRRTLIRYANLASVLVLRSVSTRVLKRFPTMEHVVDAGFMSQEERKKFESLKSDFNK
YWVPCVWFTNLAAQARRDGRIRDDIALCLLLEELNKYRAKCSMLFHYDWISIPLVYTQVV
TIAVYSFFALSLVGRQFVEPEAGAAKPQKLLKPGQEPAPALGDPDMYVPLTTLLQFFFYA
GWLKVAEQIINPFGEDDDDFETNQLIDRNLQVSLLSVDEMYQNLPPAEKDQYWDEDQPQP
PYTVATAAESLRPSFLGSTFNLRMSDDPEQSLQVEASPGSGRPAPAAQTPLLGRFLGVGA
PSPAISLRNFGRVRGTPRPPHLLRFRAEEGGDPEAAARIEEESAESGDEALEP

• Bestrophin (PF01062 )

• None

• 26-46 71-91 179-199 286-306

ATGACGGTTTCATACACTCTCAAAGTGGCGGAGGCCCGCTTCGGAGGTTTCTCTGGCCTG
CTTCTCCGCTGGAGGGGAAGCATCTACAAGCTCCTCTACAAGGAATTCCTCCTCTTTGGG
GCCTTGTACGCTGTGCTTAGCATCACCTACCGGCTGCTGCTGACCCAGGAGCAGAGGTAC
GTGTATGCTCAGGTGGCCCGGTACTGCAACCGCTCAGCAGACCTCATTCCCTTGTCCTTT
GTATTGGGTTTCTATGTGACTCTCGTGGTGAACCGCTGGTGGTCCCAGTACACAAGCATC
CCGCTGCCAGACCAGCTGATGTGCGTCATCTCGGCTAGCGTGCACGGCGTGGACCAGCGG
GGCCGCCTGCTGCGCCGCACCCTCATCCGCTACGCGAACCTGGCGTCCGTGCTGGTGCTG
CGCTCGGTCAGCACCCGCGTGCTTAAGCGCTTCCCCACCATGGAGCACGTGGTGGACGCA
GGTTTCATGTCCCAGGAAGAGAGGAAAAAGTTTGAGAGCCTGAAATCCGACTTCAACAAG
TACTGGGTCCCCTGCGTCTGGTTCACCAACCTGGCGGCCCAGGCCCGGAGGGACGGGCGA
ATACGTGACGATATCGCTCTCTGTCTACTTTTGGAAGAGCTGAACAAGTACCGAGCCAAG
TGCAGCATGCTATTCCACTATGACTGGATCAGCATCCCCCTCGTCTACACCCAAGTGGTG
ACCATAGCCGTCTACTCTTTCTTTGCCCTCTCCCTGGTTGGCCGCCAGTTTGTGGAGCCA
GAGGCAGGGGCTGCCAAACCTCAGAAGCTTCTGAAGCCAGGCCAGGAGCCAGCCCCAGCC
CTGGGAGACCCGGACATGTACGTGCCTCTCACCACTCTGCTGCAGTTCTTCTTCTATGCT
GGCTGGCTCAAGGTGGCTGAACAGATCATCAACCCATTTGGTGAGGATGATGACGACTTT
GAGACAAATCAGCTCATAGACCGCAACTTGCAGGTGTCCCTGCTATCCGTGGACGAAATG
TACCAGAACCTTCCCCCCGCTGAGAAGGACCAGTACTGGGATGAGGACCAGCCGCAGCCA
CCCTACACTGTGGCCACGGCGGCCGAGTCTCTGCGGCCCTCATTCCTGGGCTCCACCTTC
AACCTGCGCATGAGCGACGACCCTGAGCAGAGCCTGCAGGTGGAGGCGTCCCCCGGATCT
GGTCGGCCCGCGCCCGCCGCGCAGACCCCGTTGCTCGGCCGCTTCCTGGGCGTAGGGGCG
CCCTCCCCGGCCATCAGCCTCCGGAACTTCGGCCGCGTGCGAGGCACCCCCCGCCCCCCG
CATCTGCTGCGCTTCCGGGCGGAGGAGGGCGGCGACCCCGAGGCCGCAGCCCGCATCGAG
GAGGAATCGGCGGAGTCCGGGGACGAGGCCCTGGAGCCCTGA

1. Stohr H, Marquardt A, Nanda I, Schmid M, Weber BH: Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family. Eur J Hum Genet. 2002 Apr;10(4):281-4. [PubMed ]
2. Tsunenari T, Sun H, Williams J, Cahill H, Smallwood P, Yau KW, Nathans J: Structure-function analysis of the bestrophin family of anion channels. J Biol Chem. 2003 Oct 17;278(42):41114-25. Epub 2003 Aug 7. [PubMed ]
3. 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 ]
4. 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 ]
5. Qu Z, Hartzell HC: Bestrophin Cl- channels are highly permeable to HCO3-. Am J Physiol Cell Physiol. 2008 Jun;294(6):C1371-7. Epub 2008 Apr 9. [PubMed ]

MRLDLASLMSAPKSLGSAFKSWRLDKAPSPQHTFPSTSIPGMAFALLASVPPVFGLYTSF
FPVLIYSLLGTGRHLSTGTFAILSLMTGSAVERLVPEPLVGNLSGIEKEQLDAQRVGVAA
AVAFGSGALMLGMFVLQLGVLSTFLSEPVVKALTSGAALHVLLSQLPSLLGLSLPRQIGC
FSLFKTLASLLTALPRSSPAELTISALSLALLVPVKELNVRFRDRLPTPIPGEVVLVLLA
SVLCFTSSVDTRYQVQIVGLLPGGFPQPLLPNLAELPRILADSLPIALVSFAVSASLASI
HADKYSYTIDSNQEFLAHGASNLISSLFSCFPNSATLATTNLLVDAGGKTQLAGLFSCTV
VLSVLLWLGPFFYYLPKAVLACINISSMRQVFCQMQELPQLWHISRVDFLLQVPGLCILS
YPTPLYFGTRGQFRCNLEWHLGLGEGEKETSKPDGPMVAVAEPVRVVVLDFSGVTFADAA
GAREVVQVRERLASRCRDARIRLLLAQCNALVQGTLTRVGLLDRVTPDQLFVSVQDAAAY
ALGSLLRGSSTRSGSQEALGCGK

• STAS (PF01740 )
• Sulfate_transp (PF00916 )

• None

• 45-65 75-91 116-136 152-172 352-372

ATGAGGCTTGATTTAGCATCCTTGATGTCAGCTCCTAAGAGTCTGGGAAGTGCATTTAAG
TCCTGGAGGTTGGACAAGGCCCCCTCCCCACAGCACACCTTTCCATCCACTTCTATCCCA
GGCATGGCTTTTGCTCTCCTGGCCTCCGTGCCCCCGGTGTTTGGACTCTACACTTCTTTC
TTCCCCGTCCTCATCTACAGCTTGCTAGGTACTGGGAGACACCTGTCCACAGGAACTTTC
GCCATACTCAGCCTCATGACAGGCTCGGCCGTCGAGCGGCTGGTGCCGGAACCCCTCGTG
GGGAATCTGAGCGGAATCGAGAAGGAGCAGCTGGACGCTCAACGGGTTGGGGTAGCCGCG
GCCGTGGCCTTCGGGAGCGGGGCGTTGATGCTGGGGATGTTCGTGCTGCAGCTCGGCGTC
TTGTCCACCTTTTTGTCCGAGCCTGTGGTCAAGGCGCTGACCAGCGGGGCCGCGCTGCAC
GTGCTCTTGTCCCAGCTGCCGAGCCTCTTGGGGTTGTCCCTCCCGCGCCAGATCGGCTGC
TTCTCTCTCTTCAAGACGCTGGCCTCCTTGCTGACTGCGCTGCCTCGGAGCAGTCCGGCC
GAACTGACCATCTCCGCGCTCAGCCTGGCGCTGCTCGTGCCGGTCAAGGAATTGAACGTG
AGATTCCGAGACCGGCTACCCACGCCGATCCCGGGGGAAGTCGTCTTGGTGCTTCTGGCC
TCCGTGCTCTGCTTCACCTCTTCTGTGGACACAAGATACCAAGTCCAGATAGTGGGGCTG
TTGCCTGGAGGATTTCCCCAACCCCTCCTCCCCAACCTGGCTGAGCTGCCCAGGATTCTG
GCTGACTCGCTGCCCATTGCACTGGTTAGTTTTGCGGTGTCTGCCTCCCTGGCCTCCATC
CATGCAGACAAGTATAGCTACACTATTGACTCCAACCAGGAGTTCCTGGCACATGGTGCC
TCCAACCTCATCTCCTCCCTCTTCTCTTGCTTTCCCAACTCGGCTACGCTGGCCACCACC
AATCTACTGGTGGATGCTGGTGGGAAAACACAGCTGGCAGGCCTCTTCTCCTGCACAGTG
GTCCTGTCGGTGCTGCTGTGGCTGGGGCCCTTCTTTTACTATCTGCCCAAGGCTGTCCTG
GCTTGCATCAACATCTCCAGCATGCGCCAGGTGTTCTGCCAGATGCAGGAACTTCCACAA
CTATGGCACATCAGCCGAGTGGACTTTCTCCTCCAGGTCCCGGGGCTCTGCATCCTGAGC
TATCCAACACCACTGTACTTTGGGACCCGTGGGCAGTTTCGCTGCAACCTGGAGTGGCAC
CTGGGGCTCGGAGAAGGAGAAAAGGAGACTTCAAAGCCAGATGGCCCAATGGTTGCAGTT
GCTGAGCCTGTCAGGGTGGTGGTCCTAGACTTCAGTGGTGTCACCTTTGCAGATGCTGCT
GGGGCCAGAGAAGTGGTGCAGGTGAGGGAGAGGCTGGCCAGCCGATGTCGAGATGCTAGG
ATCCGCCTCCTCCTGGCTCAGTGTAATGCCTTGGTGCAGGGGACACTGACCCGGGTAGGA
CTCCTGGACAGGGTGACTCCAGATCAGCTGTTTGTGAGTGTGCAGGATGCAGCTGCTTAT
GCCCTGGGGAGCCTGTTAAGGGGCAGTAGCACCAGGAGCGGGAGCCAGGAGGCACTGGGC
TGCGGCAAGTGA

1. Lohi H, Kujala M, Kerkela E, Saarialho-Kere U, Kestila M, Kere J: Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger. Genomics. 2000 Nov 15;70(1):102-12. [PubMed ]
2. Scherer SE, Muzny DM, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes AC, Hernandez J, Hodgson AV, Hume J, Jackson A, Khan ZM, Kovar-Smith C, Lewis LR, Lozado RJ, Metzker ML, Milosavljevic A, Miner GR, Montgomery KT, Morgan MB, Nazareth LV, Scott G, Sodergren E, Song XZ, Steffen D, Lovering RC, Wheeler DA, Worley KC, Yuan Y, Zhang Z, Adams CQ, Ansari-Lari MA, Ayele M, Brown MJ, Chen G, Chen Z, Clerc-Blankenburg KP, Davis C, Delgado O, Dinh HH, Draper H, Gonzalez-Garay ML, Havlak P, Jackson LR, Jacob LS, Kelly SH, Li L, Li Z, Liu J, Liu W, Lu J, Maheshwari M, Nguyen BV, Okwuonu GO, Pasternak S, Perez LM, Plopper FJ, Santibanez J, Shen H, Tabor PE, Verduzco D, Waldron L, Wang Q, Williams GA, Zhang J, Zhou J, Allen CC, Amin AG, Anyalebechi V, Bailey M, Barbaria JA, Bimage KE, Bryant NP, Burch PE, Burkett CE, Burrell KL, Calderon E, Cardenas V, Carter K, Casias K, Cavazos I, Cavazos SR, Ceasar H, Chacko J, Chan SN, Chavez D, Christopoulos C, Chu J, Cockrell R, Cox CD, Dang M, Dathorne SR, David R, Davis CM, Davy-Carroll L, Deshazo DR, Donlin JE, D'Souza L, Eaves KA, Egan A, Emery-Cohen AJ, Escotto M, Flagg N, Forbes LD, Gabisi AM, Garza M, Hamilton C, Henderson N, Hernandez O, Hines S, Hogues ME, Huang M, Idlebird DG, Johnson R, Jolivet A, Jones S, Kagan R, King LM, Leal B, Lebow H, Lee S, LeVan JM, Lewis LC, London P, Lorensuhewa LM, Loulseged H, Lovett DA, Lucier A, Lucier RL, Ma J, Madu RC, Mapua P, Martindale AD, Martinez E, Massey E, Mawhiney S, Meador MG, Mendez S, Mercado C, Mercado IC, Merritt CE, Miner ZL, Minja E, Mitchell T, Mohabbat F, Mohabbat K, Montgomery B, Moore N, Morris S, Munidasa M, Ngo RN, Nguyen NB, Nickerson E, Nwaokelemeh OO, Nwokenkwo S, Obregon M, Oguh M, Oragunye N, Oviedo RJ, Parish BJ, Parker DN, Parrish J, Parks KL, Paul HA, Payton BA, Perez A, Perrin W, Pickens A, Primus EL, Pu LL, Puazo M, Quiles MM, Quiroz JB, Rabata D, Reeves K, Ruiz SJ, Shao H, Sisson I, Sonaike T, Sorelle RP, Sutton AE, Svatek AF, Svetz LA, Tamerisa KS, Taylor TR, Teague B, Thomas N, Thorn RD, Trejos ZY, Trevino BK, Ukegbu ON, Urban JB, Vasquez LI, Vera VA, Villasana DM, Wang L, Ward-Moore S, Warren JT, Wei X, White F, Williamson AL, Wleczyk R, Wooden HS, Wooden SH, Yen J, Yoon L, Yoon V, Zorrilla SE, Nelson D, Kucherlapati R, Weinstock G, Gibbs RA: The finished DNA sequence of human chromosome 12. Nature. 2006 Mar 16;440(7082):346-51. [PubMed ]
3. 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 ]
4. Mount DB, Romero MF: The SLC26 gene family of multifunctional anion exchangers. Pflugers Arch. 2004 Feb;447(5):710-21. Epub 2003 May 21. [PubMed ]
5. 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 ]

1. Solute carrier family 26 member 5

MDHAEENEILAATQRYYVERPIFSHPVLQERLHTKDKVPDSIADKLKQAFTCTPKKIRNI
IYMFLPITKWLPAYKFKEYVLGDLVSGISTGVLQLPQGLAFAMLAAVPPIFGLYSSFYPV
IMYCFLGTSRHISIGPFAVISLMIGGVAVRLVPDDIVIPGGVNATNGTEARDALRVKVAM
SVTLLSGIIQFCLGVCRFGFVAIYLTEPLVRGFTTAAAVHVFTSMLKYLFGVKTKRYSGI
FSVVYSTVAVLQNVKNLNVCSLGVGLMVFGLLLGGKEFNERFKEKLPAPIPLEFFAVVMG
TGISAGFNLKESYNVDVVGTLPLGLLPPANPDTSLFHLVYVDAIAIAIVGFSVTISMAKT
LANKHGYQVDGNQELIALGLCNSIGSLFQTFSISCSLSRSLVQEGTGGKTQLAGCLASLM
ILLVILATGFLFESLPQAVLSAIVIVNLKGMFMQFSDLPFFWRTSKIELTIWLTTFVSSL
FLGLDYGLITAVIIALLTVIYRTQSPSYKVLGKLPETDVYIDIDAYEEVKEIPGIKIFQI
NAPIYYANSDLYSNALKRKTGVNPAVIMGARRKAMRKYAKEVGNANMANATVVKADAEVD
GEDATKPEEEDGEVKYPPIVIKSTFPEEMQRFMPPGDNVHTVILDFTQVNFIDSVGVKTL
AGIVKEYGDVGIYVYLAGCSAQVVNDLTRNRFFENPALWELLFHSIHDAVLGSQLREALA
EQEASAPPSQEDLEPNATPATPEA

• STAS (PF01740 )
• Sulfate_transp (PF00916 )

• None

• 80-100 103-123 132-152 184-204 212-232 254-274 287-307 335-355 375-395 412-432 442-462 480-500

ATGGATCATGCTGAAGAAAATGAAATCCTTGCAGCAACCCAGAGGTACTATGTGGAAAGG
CCTATCTTTAGTCATCCGGTCCTCCAGGAAAGACTACACACAAAGGACAAGGTTCCTGAT
TCCATTGCGGATAAGCTGAAACAGGCATTCACATGTACTCCTAAAAAAATAAGAAATATC
ATTTATATGTTCCTACCCATAACTAAATGGCTGCCAGCATACAAATTCAAGGAATATGTG
TTGGGTGACTTGGTCTCAGGCATAAGCACAGGGGTGCTTCAGCTTCCTCAAGGCTTAGCC
TTTGCAATGCTGGCAGCTGTGCCTCCAATATTTGGCCTGTACTCTTCATTTTACCCTGTT
ATCATGTATTGTTTTCTTGGAACCTCCAGACACATATCCATAGGTCCTTTTGCTGTTATT
AGCCTGATGATTGGTGGTGTAGCTGTTCGATTAGTACCAGATGATATAGTCATTCCAGGA
GGAGTAAATGCAACCAATGGCACAGAGGCCAGAGATGCCTTGAGAGTGAAAGTCGCCATG
TCTGTGACCTTACTTTCAGGAATCATTCAGTTTTGCCTAGGTGTCTGTAGGTTTGGATTT
GTGGCCATATATCTCACAGAGCCTCTGGTCCGTGGGTTTACCACCGCAGCAGCTGTGCAT
GTCTTCACCTCCATGTTAAAATATCTGTTTGGAGTTAAAACAAAGCGGTACAGTGGAATC
TTTTCCGTGGTGTATAGTACAGTTGCTGTGTTGCAGAATGTTAAAAACCTCAACGTGTGT
TCCCTAGGCGTCGGGCTGATGGTTTTTGGTTTGCTGTTGGGTGGCAAGGAGTTTAATGAG
AGATTTAAAGAGAAATTGCCGGCGCCTATTCCTTTAGAGTTCTTTGCGGTCGTAATGGGA
ACTGGCATTTCAGCTGGGTTTAACTTGAAAGAATCATACAATGTGGATGTCGTTGGAACA
CTTCCTCTAGGGCTGCTACCTCCAGCCAATCCGGACACCAGCCTCTTCCACCTTGTGTAC
GTAGATGCCATTGCCATAGCCATCGTTGGATTTTCAGTGACCATCTCCATGGCCAAGACC
TTAGCAAATAAACATGGCTACCAGGTTGACGGCAATCAGGAGCTCATTGCCCTGGGACTG
TGCAATTCCATTGGCTCACTCTTCCAGACCTTTTCAATTTCATGCTCCTTGTCTCGAAGC
CTTGTTCAGGAGGGAACCGGTGGGAAGACACAGCTTGCAGGTTGTTTGGCCTCATTAATG
ATTCTGCTGGTCATATTAGCAACTGGATTCCTCTTTGAATCATTGCCCCAGGCTGTGCTG
TCGGCCATTGTGATTGTCAACCTGAAGGGAATGTTTATGCAGTTCTCAGATCTCCCCTTT
TTCTGGAGAACCAGCAAAATAGAGCTGACCATCTGGCTTACCACTTTTGTGTCCTCCTTG
TTCCTGGGATTGGACTATGGTTTGATCACTGCTGTGATCATTGCTCTGCTGACTGTGATT
TACAGAACACAGAGTCCAAGCTACAAAGTCCTTGGAAAGCTTCCTGAAACTGATGTGTAT
ATTGATATAGACGCATATGAGGAGGTGAAAGAAATTCCTGGAATAAAAATATTTCAAATA
AATGCACCAATTTACTATGCAAATAGCGACTTGTATAGCAATGCATTAAAACGAAAGACT
GGAGTGAACCCAGCAGTCATCATGGGAGCAAGGAGAAAGGCCATGCGGAAGTACGCTAAG
GAAGTCGGAAATGCAAATATGGCCAACGCAACTGTTGTCAAAGCAGATGCAGAAGTAGAT
GGAGAGGATGCTACCAAGCCTGAAGAAGAGGATGGTGAAGTAAAATATCCCCCAATAGTG
ATCAAAAGCACATTTCCTGAGGAAATGCAAAGATTTATGCCCCCAGGGGATAACGTCCAC
ACTGTCATTTTGGATTTCACTCAAGTCAATTTTATTGATTCTGTTGGAGTGAAAACTCTG
GCAGGGATTGTAAAAGAATATGGAGACGTCGGTATATATGTATACTTAGCAGGATGCAGT
GCACAAGTTGTGAATGACCTCACTCGGAATAGATTTTTTGAAAATCCTGCCCTATGGGAG
CTGCTGTTCCACAGCATTCATGATGCAGTTTTAGGCAGCCAACTTAGAGAGGCACTTGCT
GAACAGGAAGCCTCGGCTCCCCCTTCCCAGGAGGACTTGGAGCCCAATGCCACTCCTGCC
ACTCCTGAGGCATAG

1. Liu XZ, Ouyang XM, Xia XJ, Zheng J, Pandya A, Li F, Du LL, Welch KO, Petit C, Smith RJ, Webb BT, Yan D, Arnos KS, Corey D, Dallos P, Nance WE, Chen ZY: Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss. Hum Mol Genet. 2003 May 15;12(10):1155-62. [PubMed ]
2. Hillier LW, Fulton RS, Fulton LA, Graves TA, Pepin KH, Wagner-McPherson C, Layman D, Maas J, Jaeger S, Walker R, Wylie K, Sekhon M, Becker MC, O'Laughlin MD, Schaller ME, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Cordes M, Du H, Sun H, Edwards J, Bradshaw-Cordum H, Ali J, Andrews S, Isak A, Vanbrunt A, Nguyen C, Du F, Lamar B, Courtney L, Kalicki J, Ozersky P, Bielicki L, Scott K, Holmes A, Harkins R, Harris A, Strong CM, Hou S, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Leonard S, Rohlfing T, Rock SM, Tin-Wollam AM, Abbott A, Minx P, Maupin R, Strowmatt C, Latreille P, Miller N, Johnson D, Murray J, Woessner JP, Wendl MC, Yang SP, Schultz BR, Wallis JW, Spieth J, Bieri TA, Nelson JO, Berkowicz N, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Bedell JA, Mardis ER, Clifton SW, Chissoe SL, Marra MA, Raymond C, Haugen E, Gillett W, Zhou Y, James R, Phelps K, Iadanoto S, Bubb K, Simms E, Levy R, Clendenning J, Kaul R, Kent WJ, Furey TS, Baertsch RA, Brent MR, Keibler E, Flicek P, Bork P, Suyama M, Bailey JA, Portnoy ME, Torrents D, Chinwalla AT, Gish WR, Eddy SR, McPherson JD, Olson MV, Eichler EE, Green ED, Waterston RH, Wilson RK: The DNA sequence of human chromosome 7. Nature. 2003 Jul 10;424(6945):157-64. [PubMed ]

1. Na(+)/H(+) exchanger 10
2. NHE-10
3. Solute carrier family 9 member 10
4. Sperm-specific Na(+)/H(+) exchanger
5. sNHE

MAGIFKEFFFSTEDLPEVILTLSLISSIGAFLNRHLEDFPIPVPVILFLLGCSFEVLSFT
SSQVQRYANAIQWMSPDLFFRIFTPVVFFTTAFDMDTYMLQKLFWQILLISIPGFLVNYI
LVLWHLASVNQLLLKPTQWLLFSAILVSSDPMLTAAAIRDLGLSRSLISLINGESLMTSV
ISLITFTSIMDFDQRLQSKRNHTLAEEIVGGICSYIIASFLFGILSSKLIQFWMSTVFGD
DVNHISLIFSILYLIFYICELVGMSGIFTLAIVGLLLNSTSFKAAIEETLLLEFWTFLSR
IAFLMVFTFFGLLIPAHTYLYIEFVDIYYSLNIYLTLIVLRFLTLLLISPVLSRVGHEFS
WRWIFIMVCSEMKGMPNINMALLLAYSDLYFGSDKEKSQILFHGVLVCLITLVVNRFILP
VAVTILGLRDATSTKYKSVCCTFQHFQELTKSAASALKFDKDLANADWNMIEKAITLENP
YMLNEEETTEHQKVKCPHCNKEIDEIFNTEAMELANRRLLSAQIASYQRQYRNEILSQSA
VQVLVGAAESFGEKKGKCMSLDTIKNYSESQKTVTFARKLLLNWVYNTRKEKEGPSKYFF
FRICHTIVFTEEFEHVGYLVILMNIFPFIISWISQLNVIYHSELKHTNYCFLTLYILEAL
LKIAAMRKDFFSHAWNIFELAITLIGILHVILIEIDTIKYIFNETEVIVFIKVVQFFRIL
RIFKLIAPKLLQIIDKRMSHQKTFWYGILKGYVQGEADIMTIIDQITSSKQIKQMLLKQV
IRNMEHAIKELGYLEYDHPEIAVTVKTKEEINVMLNMATEILKAFGLKGIISKTEGAGIN
KLIMAKKKEVLDSQSIIRPLTVEEVLYHIPWLDKNKDYINFIQEKAKVVTFDCGNDIFEE
GDEPKGIYIIISGMVKLEKSKPGLGIDQMVESKEKDFPIIDTDYMLSGEIIGEINCLTNE
PMKYSATCKTVVETCFIPKTHLYDAFEQCSPLIKQKMWLKLGLAITARKIREHLSYEDWN
YNMQLKLSNIYVVDIPMSTKTDIYDENLIYVILIHGAVEDCLLRKTYRAPFLIPITCHQI
QSIEDFTKVVIIQTPINMKTFRRNIRKFVPKHKSYLTPGLIGSVGTLEEGIQEERNVKED
GAHSAATARSPQPCSLLGTKFNCKESPRINLRKVRKE

• cNMP_binding (PF00027 )
• Na_H_Exchanger (PF00999 )

• None

• 8-28 39-59 73-93 103-123 138-158 167-187 204-224 248-268 301-321 333-353 364-384 405-425 613-633 646-666 675-695 707-727

ATGGCTGGAATATTTAAGGAGTTTTTTTTCAGTACTGAGGACCTCCCTGAAGTCATTCTA
ACATTGTCTTTGATCAGCTCCATTGGAGCATTTTTGAACCGGCACTTGGAAGACTTTCCA
ATTCCTGTCCCTGTGATATTATTTTTACTTGGATGCAGTTTTGAAGTATTAAGCTTTACA
TCTTCACAGGTCCAAAGATACGCAAACGCCATACAATGGATAAGTCCAGACTTATTTTTT
CGTATATTTACACCAGTAGTTTTCTTTACTACTGCATTTGACATGGATACGTACATGCTT
CAAAAGTTATTTTGGCAGATACTTTTAATTTCAATTCCCGGCTTTTTGGTTAATTATATC
TTAGTTCTTTGGCATCTGGCATCTGTAAATCAATTACTTTTGAAGCCTACCCAATGGTTA
TTATTTTCAGCTATCCTTGTGAGTTCAGATCCCATGCTAACCGCAGCTGCTGTAAGAGAC
CTTGGGCTTTCTAGAAGCCTCATCAGTTTAATTAATGGAGAAAGTCTGATGACCTCTGTT
ATATCATTAATTACATTTACTAGTATTATGGATTTTGACCAAAGACTACAAAGTAAAAGA
AACCATACCTTAGCTGAAGAGATCGTGGGTGGAATTTGTTCATATATTATAGCAAGTTTC
TTGTTTGGAATTCTAAGTTCAAAACTGATTCAATTTTGGATGTCAACTGTTTTTGGTGAT
GATGTCAATCATATAAGTCTCATCTTTTCAATTCTGTATCTCATCTTTTATATTTGTGAG
TTAGTTGGAATGTCAGGAATATTTACTCTGGCCATTGTGGGACTTCTTTTAAATTCTACA
AGTTTTAAAGCAGCAGTTGAAGAAACACTTCTTCTTGAATTCTGGACTTTTCTATCACGT
ATTGCTTTTCTCATGGTGTTTACTTTCTTTGGACTTCTAATTCCTGCACATACATATTTG
TATATAGAATTTGTTGATATATACTATTCATTAAATATCTACTTAACATTGATTGTTTTA
AGATTTCTGACCCTTCTTTTAATGAGCCCTGTTTTGTCTCGAGTTGGTCATGAGTTCAGT
TGGCGCTGGGTATTCATAATGGTCTGTAGTGAAATGAAAGGGATGCCTAATATAAACATG
GCCCTTCTGCTTGCCTACTCTGATCTTTATTTTGGATCTGACAAAGAAAAATCTCAAATA
TTATTTCATGGAGTGTTAGTATGCCTAATAACCCTTGTTGTCAATAGATTTATTTTGCCA
GTGGCAGTTGCTATACTAGGTCTTCGTGATGCCACATCAACAAAATATAAATCGGTTTGT
TGCACATTTCAACACTTTCAAGAGCTAACCAAGTCTGCAGCCTCTGCCCTTAAATTTGAC
AAAGATCTTGCTAATGCTGATTGGAACATGATTGAGAAAGCAATTACACTTGAAAACCCA
TACATGTTGAACGAAGAAGAAACAACAGAACATCAGAAGGTGAAATGTCCACACTGTAAC
AAGGAAATAGATGAGATCTTTAACACTGAAGCAATGGAGCTGGCCAACAGGCGTCTCTTG
TCAGCACAAATAGCAAGCTACCAGAGACAATACAGGAATGAGATTCTGTCCCAGAGTGCT
GTCCAGGTGTTGGTTGGTGCAGCAGAAAGTTTTGGTGAGAAGAAGGGAAAATGTATGAGT
CTTGATACAATAAAGAATTATTCTGAAAGCCAAAAAACAGTTACCTTTGCTAGAAAACTA
CTACTTAATTGGGTGTATAATACCAGAAAGGAAAAAGAGGGCCCATCAAAATACTTCTTT
TTTCGTATATGCCATACAATAGTATTTACTGAGGAATTTGAACATGTTGGATACCTTGTG
ATATTAATGAATATATTTCCCTTTATAATCTCTTGGATATCCCAGTTAAATGTAATCTAC
CACAGCGAATTAAAACACACTAACTACTGTTTTCTTACACTTTATATTCTAGAGGCACTA
CTTAAGATAGCAGCAATGAGGAAGGACTTTTTTTCACATGCCTGGAACATATTCGAGTTA
GCAATTACATTAATTGGCATCTTACATGTAATACTTATTGAAATAGACACCATTAAGTAT
ATTTTTAATGAGATTGAAGTAATAGTCTTTATAAAAGTTGTTCAATTTTTTCGTATACTA
CGCATTTTCAAGCTCATAGCACCAAAGTTGCTGAAAATAATAGATAAAAGAATGAGTCAT
CAGAAGACCTTTTGGTATGGAATACTAAAAGGCTATGTCCAAGGCGAAGCAGACATAATG
ACCATAATTGATCAGATTACAATTTCTAAACAGATTAAACAGATGTTATTAAAGCAAGTG
ATAAGGAATATGGACCATGCTACAAAAGAGCTAGGCTACTTAGAGTATGATCACCCAGAA
ATTGCTGTCACTGTGAAAACAAAGGAAGAAATTAATGTTATGCTCAATATGGCTACAGAA
ATTCTTAAGGCTTTCAGCTTAAAAGGAATTATTAGTAAAACTGAAGGTGCTGGAATTAAT
AAGTTAATCATGGCCAAAAAGAAAGAGGTGCTTGATTCTCAATCTATTATCAGGCCTCTT
ACTGTTGAAGAAGTTCTATATCATATTCCGTGGCTAGATAAAAACAAAGATTATATAAAC
TTCATTCAGGAAAAAGCCAAAGTTGTAACATTTGATTGTGGAAATGATATATTTGAAGAA
GGTGATGAGCCCAAAGGAATCTATATCATTATTTCAGGCATGGTAAAGCTTGAAAAATCA
AAGCCAGGTTTAGGGATTGATCAAATGGTGGAGTCAAAGGAGAAAGATTTTCCGATAATT
GACACAGACTATATGCTCAGTGGAGAAATAATAGGAGAGATAAACTGCTTAACTAATGAA
CCTATGAAATATTCTGCCACCTGCAAAACTGTAGTGGAGACATGTTTTATTCCCAAAACT
CACTTGTATGATGCTTTTGAGCAATGCTCTCCTCTCATTAAACAAAAAATGTGGCTAAAA
CTTGGACTCGCTATTACAGCCAGAAAAATCAGAGAACACTTATCTTATGAGGATTGGAAC
TACAATATGCAACTAAAGCTCTCTAATATTTATGTAGTAGATATACCAATGAGTACCAAA
ACTGATATTTATGATGAAAATCTAATCTATGTTATCCTCATACATGGAGCTGTAGAAGAT
TGTCTGTTACGAAAAACTTATAGAGCACCTTTCTTAATTCCTATAACATGCCATCAGATA
CAAAGTATTGAAGATTTCACAAAAGTAGTGATTATTCAAACTCCGATTAACATGAAAACA
TTCAGAAGGAATATTAGAAAGTTTGTTCCTAAACATAAAAGTTATCTTACACCAGGATTA
ATAGGTTCAGTTGGAACATTGGAAGAAGGCATTCAAGAAGAAAGAAATGTTAAGGAGGAT
GGAGCACACAGTGCCGCCACTGCCAGGAGTCCCCAGCCTTGCTCCCTGCTGGGGACAAAG
TTCAACTGTAAGGAGTCCCCTAGAATAAACCTAAGGAAAGTCAGGAAAGAGTAA

1. 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 ]
2. 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 ]
3. Oduru S, Campbell JL, Karri S, Hendry WJ, Khan SA, Williams SC: Gene discovery in the hamster: a comparative genomics approach for gene annotation by sequencing of hamster testis cDNAs. BMC Genomics. 2003 Jun 3;4(1):22. [PubMed ]