1. Cl2
2. Cl
3. chlorine
4. molecular chlorine
5. Bertholite
6. Chloor
7. Chlor
8. Chlore
9. Diatomic chlorine
10. Dichlorine
11. chloride
12. chloride ion
13. chlorine gas

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• Cytoplasm
• Extracellular

• Blood
• Cerebrospinal Fluid
• Urine

1. 7539703, 17729441, 17562499, 15300163, 16078037
2. Wikipedia

1. Protein arginine N-methyltransferase 3
2. Glutathione S-transferase theta-1
3. Serine/threonine-protein kinase Sgk1
4. Serine/threonine-protein kinase WNK4
5. Angiotensin-converting enzyme
6. Protein arginine N-methyltransferase 5
7. Alpha-amylase 1
8. Pancreatic alpha-amylase
9. Cystic fibrosis transmembrane conductance regulator
10. Alpha-amylase 2B
11. Metabotropic glutamate receptor 5
12. Gamma-aminobutyric acid receptor subunit gamma-2
13. High affinity choline transporter 1
14. Solute carrier family 12 member 5
15. Potassium voltage-gated channel subfamily KQT member 1
16. Chloride channel protein 1
17. Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2
18. Equilibrative nucleoside transporter 4
19. Solute carrier family 12 member 2
20. Pendrin
21. Solute carrier family 12 member 1
22. Solute carrier family 12 member 4
23. Solute carrier family 12 member 6
24. Solute carrier family 12 member 7
25. Solute carrier family 12 member 3
26. Sodium-driven chloride bicarbonate exchanger
27. Excitatory amino acid transporter 5
28. Chloride anion exchanger
29. Solute carrier family 26 member 9
30. Anion exchange transporter
31. Testis anion transporter 1
32. Large neutral amino acids transporter small subunit 4
33. Bestrophin-1
34. Bestrophin-2
35. Bestrophin-3
36. Bestrophin-4
37. Solute carrier family 26 member 10
38. Prestin
39. Anoctamin-10
40. Anoctamin-1
41. Anoctamin-2
42. Anoctamin-3
43. Anoctamin-4
44. Anoctamin-5
45. Anoctamin-6
46. Anoctamin-7
47. Anoctamin-8
48. Anoctamin-9
49. Calcium-activated chloride channel regulator 1
50. Calcium-activated chloride channel regulator 2
51. Calcium-activated chloride channel regulator 4
52. Potassium channel subfamily T member 1
53. Potassium channel subfamily T member 2
54. Potassium voltage-gated channel subfamily E member 3
55. Phospholemman
56. Angiotensin-converting enzyme 2
57. Atrial natriuretic peptide receptor 3
58. Barttin
59. Dipeptidyl peptidase 1
60. Chloride channel CLIC-like protein 1
61. Chloride channel protein ClC-Ka
62. Chloride channel protein ClC-Kb
63. Chloride channel protein 2
64. H(+)/Cl(-) exchange transporter 3
65. H(+)/Cl(-) exchange transporter 4
66. H(+)/Cl(-) exchange transporter 5
67. Chloride transport protein 6
68. H(+)/Cl(-) exchange transporter 7
69. Chloride intracellular channel protein 1
70. Chloride intracellular channel protein 2
71. Chloride intracellular channel protein 3
72. Chloride intracellular channel protein 4
73. Chloride intracellular channel protein 5
74. Chloride intracellular channel protein 6
75. Beta-defensin 104
76. FXYD domain-containing ion transport regulator 3
77. Gamma-aminobutyric acid receptor subunit alpha-1
78. Gamma-aminobutyric acid receptor subunit alpha-2
79. Gamma-aminobutyric acid receptor subunit alpha-3
80. Gamma-aminobutyric acid receptor subunit alpha-4
81. Gamma-aminobutyric acid receptor subunit alpha-5
82. Gamma-aminobutyric acid receptor subunit alpha-6
83. Gamma-aminobutyric acid receptor subunit beta-1
84. Gamma-aminobutyric acid receptor subunit beta-2
85. Gamma-aminobutyric acid receptor subunit beta-3
86. Gamma-aminobutyric acid receptor subunit delta
87. Gamma-aminobutyric acid receptor subunit epsilon
88. Gamma-aminobutyric acid receptor subunit gamma-1
89. Gamma-aminobutyric acid receptor subunit gamma-3
90. Gamma-aminobutyric acid receptor subunit pi
91. Gamma-aminobutyric acid receptor subunit rho-1
92. Gamma-aminobutyric acid receptor subunit rho-2
93. Gamma-aminobutyric acid receptor subunit rho-3
94. Gamma-aminobutyric acid receptor subunit theta
95. Glycine receptor subunit alpha-1
96. Glycine receptor subunit alpha-2
97. Glycine receptor subunit alpha-3
98. Glycine receptor subunit beta
99. Golgi-associated PDZ and coiled-coil motif-containing protein
100. Methylosome subunit pICln
101. NADPH oxidase 3
102. Serine/threonine-protein kinase OSR1
103. Na(+)/H(+) exchange regulatory cofactor NHE-RF3
104. Solute carrier family 12 member 8
105. Sodium-dependent neutral amino acid transporter B(0)AT1
106. Sodium-coupled monocarboxylate transporter 1
107. Protein tweety homolog 1
108. Protein tweety homolog 2
109. Protein tweety homolog 3
110. Serine/threonine-protein kinase WNK1
111. Glycine receptor subunit alpha-4
112. CTSC protein
113. cDNA FLJ10762 fis, clone NT2RP4000008, moderately similar to CHLORINE CHANNEL PROTEIN P64

1. Heterogeneous nuclear ribonucleoprotein methyltransferase-like protein 3

MCSLASGATGGRGAVENEEDLPELSDSGDEAAWEDEDDADLPHGKQQTPCLFCNRLFTSA
EETFSHCKSEHQFNIDSMVHKHGLEFYGYIKLINFIRLKNPTVEYMNSIYNPVPWEKEEY
LKPVLEDDLLLQFDVEDLYEPVSVPFSYPNGLSENTSVVEKLKHMEARALSAEAALARAR
EDLQKMKQFAQDFVMHTDVRTCSSSTSVIADLQEDEDGVYFSSYGHYGIHEEMLKDKIRT
ESYRDFIYQNPHIFKDKVVLDVGCGTGILSMFAAKAGAKKVLGVDQSEILYQAMDIIRLN
KLEDTITLIKGKIEEVHLPVEKVDVIISEWMGYFLLFESMLDSVLYAKNKYLAKGGSVYP
DICTISLVAVSDVNKHADRIAFWDDVYGFKMSCMKKAVIPEAVVEVLDPKTLISEPCGIK
HIDCHTTSISDLEFSSDFTLKITRTSMCTAIAGYFDIYFEKNCHNRVVFSTGPQSTKTHW
KQTVFLLEKPFSVKAGEALKGKVTVHKNKKDPRSLTVTLTLNNSTQTYGLQ

• PrmA (PF06325 )

• None

• None

ATGTGCTCGTTAGCGTCAGGCGCTACCGGCGGCCGGGGCGCTGTGGAGAATGAGGAGGAC
CTGCCAGAACTGTCGGACAGCGGGGACGAGGCCGCCTGGGAGGATGAGGACGATGCAGAT
CTCCCCCACGGCAAGCAGCAGACCCCCTGCCTGTTCTGTAACAGGTTATTCACATCTGCT
GAAGAAACATTTTCACACTGTAAGTCTGAGCATCAGTTTAATATTGACAGCATGGTTCAT
AAACATGGACTTGAATTTTATGGATACATTAAGCTAATAAATTTTATTAGACTTAAGAAT
CCTACAGTTGAGTACATGAATTCCATATACAACCCAGTGCCTTGGGAGAAAGAAGAGTAT
TTGAAGCCAGTATTAGAAGATGACCTTTTACTTCAATTTGATGTAGAAGATCTTTATGAA
CCGGTGTCAGTACCCTTCTCATACCCCAATGGACTCAGTGAAAATACATCTGTTGTTGAA
AAATTGAAACATATGGAAGCCAGGGCACTGTCTGCTGAAGCCGCATTGGCCAGAGCACGT
GAGGATCTGCAGAAAATGAAACAATTTGCTCAGGATTTTGTGATGCACACAGATGTCAGA
ACCTGCTCGTCATCTACTAGTGTCATTGCGGACCTCCAGGAGGATGAGGATGGTGTTTAT
TTCAGCTCATACGGGCATTATGGGATACATGAAGAAATGCTAAAGGACAAAATACGAACA
GAAAGCTACCGAGATTTCATATACCAAAATCCACATATCTTCAAAGACAAGGTAGTTTTG
GATGTTGGGTGTGGAACTGGAATTCTCTCTATGTTTGCTGCTAAAGCTGGGGCGAAGAAG
GTTCTTGGAGTTGATCAATCTGAAATACTTTACCAGGCAATGGATATTATAAGACTAAAT
AAACTTGAAGATACTATTACACTAATTAAAGGAAAGATTGAAGAAGTTCATCTTCCTGTA
GAAAAAGTAGATGTTATCATATCTGAGTGGATGGGCTATTTTCTTCTGTTTGAGTCTATG
TTAGATTCTGTCCTTTATGCAAAGAACAAATACTTGGCAAAAGGAGGCTCGGTCTACCCT
GACATTTGCACTATCAGCCTTGTAGCAGTGAGTGATGTGAATAAACATGCTGATAGAATT
GCTTTTTGGGATGATGTCTATGGCTTCAAGATGTCCTGCATGAAGAAAGCAGTTATTCCA
GAAGCTGTTGTGGAAGTTTTAGATCCGAAGACTCTTATTTCAGAACCTTGTGGTATTAAG
CATATAGATTGCCATACGACGTCTATCTCAGATTTGGAATTTTCATCAGATTTTACCCTG
AAAATCACAAGGACATCCATGTGCACGGCAATTGCTGGCTACTTTGATATATATTTTGAG
AAGAATTGCCACAACAGGGTCGTGTTCTCTACGGGCCCTCAGAGCACCAAAACACACTGG
AAACAAACAGTATTTCTACTGGAAAAACCATTTTCAGTTAAAGCAGGTGAAGCCTTGAAA
GGAAAGGTCACAGTTCACAAGAATAAGAAAGATCCACGTTCTCTCACCGTGACCCTCACG
TTGAATAATTCAACTCAAACTTATGGTCTCCAGTGA

1. 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 ]
2. Tang J, Gary JD, Clarke S, Herschman HR: PRMT 3, a type I protein arginine N-methyltransferase that differs from PRMT1 in its oligomerization, subcellular localization, substrate specificity, and regulation. J Biol Chem. 1998 Jul 3;273(27):16935-45. [PubMed ]
3. 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 ]
4. 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 ]
5. Oppermann FS, Gnad F, Olsen JV, Hornberger R, Greff Z, Keri G, Mann M, Daub H: Large-scale proteomics analysis of the human kinome. Mol Cell Proteomics. 2009 Jul;8(7):1751-64. Epub 2009 Apr 15. [PubMed ]
6. 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. GST class-theta-1
2. Glutathione transferase T1-1

MGLELYLDLLSQPCRAVYIFAKKNDIPFELRIVDLIKGQHLSDAFAQVNPLKKVPALKDG
DFTLTESVAILLYLTRKYKVPDYWYPQDLQARARVDEYLAWQHTTLRRSCLRALWHKVMF
PVFLGEPVSPQTLAATLAELDVTLQLLEDKFLQNKAFLTGPHISLADLVAITELMHPVGA
GCQVFEGRPKLATWRQRVEAAVGEDLFQEAHEVILKAKDFPPADPTIKQKLMPWVLAMIR

• Glutathione Metabolism (map00480 )

• RX + glutathione = HX + R-S-glutathione [RN:R03522 R08511 R08512]

• GST_C (PF00043 )
• GST_N (PF02798 )

• None

• None

ATGGGTCTGGAGCTCTACCTGGACCTGCTGTCCCAGCCCTGCCGCGCTGTTTACATCTTT
GCCAAGAAGAACGACATTCCCTTCGAGCTGCGCATCGTGGATCTGATTAAAGGTCAGCAC
TTAAGCGATGCCTTTGCCCAGGTGAACCCCCTCAAGAAGGTGCCGGCCTTGAAGGACGGG
GACTTCACCTTGACGGAGAGTGTGGCCATCCTGCTCTACCTGACGCGCAAATATAAGGTC
CCTGACTACTGGTACCCTCAGGACCTGCAGGCCCGTGCCCGTGTGGATGAGTACCTGGCA
TGGCAGCACACGACTCTGCGGAGAAGCTGCCTCCGGGCCTTGTGGCATAAGGTGATGTTC
CCTGTGTTCCTGGGTGGGCCAGTATCTCCCCAGACACTGGCAGCCACCCTGGCAGAGTTG
GATGTGACCCTGCAGTTGCTCGAGGACAAGTTCCTCCAGAACAAGGCCTTCCTTACTGGT
CCTCACATCTCCTTAGCTGACCTCGTAGCCATCACGGAGCTGATGCATCCCGTGGGTGCT
GGCTGCCAAGTCTTCGAAGGCCGACCCAAGCTGGCCACATGGCGGCAGCGCGTGGAGGCA
GCAGTGGGGGAGGACCTCTTCCAGGAGGCCCATGAGGTCATTCTGAAGGCCAAGGACTTC
CCACCTGCAGACCCCACCATAAAGCAGAAGCTGATGCCCTGGGTGCTGGCCATGATCCGG
TGA

1. Pemble S, Schroeder KR, Spencer SR, Meyer DJ, Hallier E, Bolt HM, Ketterer B, Taylor JB: Human glutathione S-transferase theta (GSTT1): cDNA cloning and the characterization of a genetic polymorphism. Biochem J. 1994 May 15;300 ( Pt 1):271-6. [PubMed ]
2. Jemth P, Mannervik B: Kinetic characterization of recombinant human glutathione transferase T1-1, a polymorphic detoxication enzyme. Arch Biochem Biophys. 1997 Dec 15;348(2):247-54. [PubMed ]
3. Sprenger R, Schlagenhaufer R, Kerb R, Bruhn C, Brockmoller J, Roots I, Brinkmann U: Characterization of the glutathione S-transferase GSTT1 deletion: discrimination of all genotypes by polymerase chain reaction indicates a trimodular genotype-phenotype correlation. Pharmacogenetics. 2000 Aug;10(6):557-65. [PubMed ]
4. Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP, et al.: The DNA sequence of human chromosome 22. Nature. 1999 Dec 2;402(6761):489-95. [PubMed ]
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. Meyer DJ, Coles B, Pemble SE, Gilmore KS, Fraser GM, Ketterer B: Theta, a new class of glutathione transferases purified from rat and man. Biochem J. 1991 Mar 1;274 ( Pt 2):409-14. [PubMed ]
7. Mainwaring GW, Williams SM, Foster JR, Tugwood J, Green T: The distribution of theta-class glutathione S-transferases in the liver and lung of mouse, rat and human. Biochem J. 1996 Aug 15;318 ( Pt 1):297-303. [PubMed ]

1. Serum/glucocorticoid-regulated kinase 1

MTVKTEAAKGTLTYSRMRGMVAILIAFMKQRRMGLNDFIQKIANNSYACKHPEVQSILKI
SQPQEPELMNANPSPPPSPSQQINLGPSSNPHAKPSDFHFLKVIGKGSFGKVLLARHKAE
EVFYAVKVLQKKAILKKKEEKHIMSERNVLLKNVKHPFLVGLHFSFQTADKLYFVLDYIN
GGELFYHLQRERCFLEPRARFYAAEIASALGYLHSLNIVYRDLKPENILLDSQGHIVLTD
FGLCKENIEHNSTTSTFCGTPEYLAPEVLHKQPYDRTVDWWCLGAVLYEMLYGLPPFYSR
NTAEMYDNILNKPLQLKPNITNSARHLLEGLLQKDRTKRLGAKDDFMEIKSHVFFSLINW
DDLINKKITPPFNPNVSGPNDLRHFDPEFTEEPVPNSIGKSPDSVLVTASVKEAAEAFLG
FSYAPPTDSFL

• ATP + a protein = ADP + a phosphoprotein [RN:R00162]

• Pkinase (PF00069 )
• Pkinase_C (PF00433 )

• None

• None

ATGACGGTGAAAACTGAGGCTGCTAAGGGCACCCTCACTTACTCCAGGATGAGGGGCATG
GTGGCAATTCTCATCGCTTTCATGAAGCAGAGGAGGATGGGTCTGAACGACTTTATTCAG
AAGATTGCCAATAACTCCTATGCATGCAAACACCCTGAAGTTCAGTCCATCTTGAAGATC
TCCCAACCTCAGGAGCCTGAGCTTATGAATGCCAACCCTTCTCCTCCACCAAGTCCTTCT
CAGCAAATCAACCTTGGCCCGTCGTCCAATCCTCATGCTAAACCATCTGACTTTCACTTC
TTGAAAGTGATCGGAAAGGGCAGTTTTGGAAAGGTTCTTCTAGCAAGACACAAGGCAGAA
GAAGTGTTCTATGCAGTCAAAGTTTTACAGAAGAAAGCAATCCTGAAAAAGAAAGAGGAG
AAGCATATTATGTCGGAGCGGAATGTTCTGTTGAAGAATGTGAAGCACCCTTTCCTGGTG
GGCCTTCACTTCTCTTTCCAGACTGCTGACAAATTGTACTTTGTCCTAGACTACATTAAT
GGTGGAGAGTTGTTCTACCATCTCCAGAGGGAACGCTGCTTCCTGGAACCACGGGCTCGT
TTCTATGCTGCTGAAATAGCCAGTGCCTTGGGCTACCTGCATTCACTGAACATCGTTTAT
AGAGACTTAAAACCAGAGAATATTTTGCTAGATTCACAGGGACACATTGTCCTTACTGAT
TTCGGACTCTGCAAGGAGAACATTGAACACAACAGCACAACATCCACCTTCTGTGGCACG
CCGGAGTATCTCGCACCTGAGGTGCTTCATAAGCAGCCTTATGACAGGACTGTGGACTGG
TGGTGCCTGGGAGCTGTCTTGTATGAGATGCTGTATGGCCTGCCGCCTTTTTATAGCCGA
AACACAGCTGAAATGTACGACAACATTCTGAACAAGCCTCTCCAGCTGAAACCAAATATT
ACAAATTCCGCAAGACACCTCCTGGAGGGCCTCCTGCAGAAGGACAGGACAAAGCGGCTC
GGGGCCAAGGATGACTTCATGGAGATTAAGAGTCATGTCTTCTTCTCCTTAATTAACTGG
GATGATCTCATTAATAAGAAGATTACTCCCCCTTTTAACCCAAATGTGAGTGGGCCCAAC
GAGCTACGGCACTTTGACCCCGAGTTTACCGAAGAGCCTGTCCCCAACTCCATTGGCAAG
TCCCCTGACAGCGTCCTCGTCACAGCCAGCGTCAAGGAAGCTGCCGAGGCTTTCCTAGGC
TTTTCCTATGCGCCTCCCACGGACTCTTTCCTCTGA

1. Waldegger S, Barth P, Raber G, Lang F: Cloning and characterization of a putative human serine/threonine protein kinase transcriptionally modified during anisotonic and isotonic alterations of cell volume. Proc Natl Acad Sci U S A. 1997 Apr 29;94(9):4440-5. [PubMed ]
2. Waldegger S, Erdel M, Nagl UO, Barth P, Raber G, Steuer S, Utermann G, Paulmichl M, Lang F: Genomic organization and chromosomal localization of the human SGK protein kinase gene. Genomics. 1998 Jul 15;51(2):299-302. [PubMed ]
3. Raikwar NS, Snyder PM, Thomas CP: An evolutionarily conserved N-terminal Sgk1 variant with enhanced stability and improved function. Am J Physiol Renal Physiol. 2008 Nov;295(5):F1440-8. Epub 2008 Aug 27. [PubMed ]
4. 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 ]
5. Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L, Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J, Beck S: The DNA sequence and analysis of human chromosome 6. Nature. 2003 Oct 23;425(6960):805-11. [PubMed ]
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. Kobayashi T, Deak M, Morrice N, Cohen P: Characterization of the structure and regulation of two novel isoforms of serum- and glucocorticoid-induced protein kinase. Biochem J. 1999 Nov 15;344 Pt 1:189-97. [PubMed ]
8. Kobayashi T, Cohen P: Activation of serum- and glucocorticoid-regulated protein kinase by agonists that activate phosphatidylinositide 3-kinase is mediated by 3-phosphoinositide-dependent protein kinase-1 (PDK1) and PDK2. Biochem J. 1999 Apr 15;339 ( Pt 2):319-28. [PubMed ]
9. Lang F, Klingel K, Wagner CA, Stegen C, Warntges S, Friedrich B, Lanzendorfer M, Melzig J, Moschen I, Steuer S, Waldegger S, Sauter M, Paulmichl M, Gerke V, Risler T, Gamba G, Capasso G, Kandolf R, Hebert SC, Massry SG, Broer S: Deranged transcriptional regulation of cell-volume-sensitive kinase hSGK in diabetic nephropathy. Proc Natl Acad Sci U S A. 2000 Jul 5;97(14):8157-62. [PubMed ]
10. Brunet A, Park J, Tran H, Hu LS, Hemmings BA, Greenberg ME: Protein kinase SGK mediates survival signals by phosphorylating the forkhead transcription factor FKHRL1 (FOXO3a). Mol Cell Biol. 2001 Feb;21(3):952-65. [PubMed ]
11. Snyder PM, Olson DR, Thomas BC: Serum and glucocorticoid-regulated kinase modulates Nedd4-2-mediated inhibition of the epithelial Na+ channel. J Biol Chem. 2002 Jan 4;277(1):5-8. Epub 2001 Nov 5. [PubMed ]
12. Gamper N, Fillon S, Feng Y, Friedrich B, Lang PA, Henke G, Huber SM, Kobayashi T, Cohen P, Lang F: K+ channel activation by all three isoforms of serum- and glucocorticoid-dependent protein kinase SGK. Pflugers Arch. 2002 Oct;445(1):60-6. Epub 2002 Aug 28. [PubMed ]
13. Boehmer C, Henke G, Schniepp R, Palmada M, Rothstein JD, Broer S, Lang F: Regulation of the glutamate transporter EAAT1 by the ubiquitin ligase Nedd4-2 and the serum and glucocorticoid-inducible kinase isoforms SGK1/3 and protein kinase B. J Neurochem. 2003 Sep;86(5):1181-8. [PubMed ]
14. Maiyar AC, Leong ML, Firestone GL: Importin-alpha mediates the regulated nuclear targeting of serum- and glucocorticoid-inducible protein kinase (Sgk) by recognition of a nuclear localization signal in the kinase central domain. Mol Biol Cell. 2003 Mar;14(3):1221-39. [PubMed ]
15. Henke G, Maier G, Wallisch S, Boehmer C, Lang F: Regulation of the voltage gated K+ channel Kv1.3 by the ubiquitin ligase Nedd4-2 and the serum and glucocorticoid inducible kinase SGK1. J Cell Physiol. 2004 May;199(2):194-9. [PubMed ]
16. Zhou R, Snyder PM: Nedd4-2 phosphorylation induces serum and glucocorticoid-regulated kinase (SGK) ubiquitination and degradation. J Biol Chem. 2005 Feb 11;280(6):4518-23. Epub 2004 Dec 2. [PubMed ]
17. Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. Mol Cell. 2008 Aug 8;31(3):438-48. [PubMed ]
18. Arteaga MF, Coric T, Straub C, Canessa CM: A brain-specific SGK1 splice isoform regulates expression of ASIC1 in neurons. Proc Natl Acad Sci U S A. 2008 Mar 18;105(11):4459-64. Epub 2008 Mar 11. [PubMed ]
19. Oppermann FS, Gnad F, Olsen JV, Hornberger R, Greff Z, Keri G, Mann M, Daub H: Large-scale proteomics analysis of the human kinome. Mol Cell Proteomics. 2009 Jul;8(7):1751-64. Epub 2009 Apr 15. [PubMed ]
20. Greenman C, Stephens P, Smith R, Dalgliesh GL, Hunter C, Bignell G, Davies H, Teague J, Butler A, Stevens C, Edkins S, O'Meara S, Vastrik I, Schmidt EE, Avis T, Barthorpe S, Bhamra G, Buck G, Choudhury B, Clements J, Cole J, Dicks E, Forbes S, Gray K, Halliday K, Harrison R, Hills K, Hinton J, Jenkinson A, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Tofts C, Varian J, Webb T, West S, Widaa S, Yates A, Cahill DP, Louis DN, Goldstraw P, Nicholson AG, Brasseur F, Looijenga L, Weber BL, Chiew YE, DeFazio A, Greaves MF, Green AR, Campbell P, Birney E, Easton DF, Chenevix-Trench G, Tan MH, Khoo SK, Teh BT, Yuen ST, Leung SY, Wooster R, Futreal PA, Stratton MR: Patterns of somatic mutation in human cancer genomes. Nature. 2007 Mar 8;446(7132):153-8. [PubMed ]

1. Protein kinase lysine-deficient 4
2. Protein kinase with no lysine 4

MLASPATETTVLMSQTEADLALRPPPPLGTAGQPRLGPPPRRARRFSGKAEPRPRSSRLS
RRSSVDLGLLSSWSLPASPAPDPPDPPDSAGPGPARSPPPSSKEPPEGTWTEGAPVKAAE
DSARPELPDSAVGPGSREPLRVPEAVALERRREQEEKEDMETQAVATSPDGRYLKFDIEI
GRGSFKTVYRGLDTDTTVEVAWCELQTRKLSRAERQRFSEEVEMLKGLQHPNIVRFYDSW
KSVLRGQVCIVLVTELMTSGTLKTYLRRFREMKPRVLQRWSRQILRGLHFLHSRVPPILH
RDLKCDNVFITGPTGSVKIGDLGLATLKRASFAKSVIGTPEFMAPEMYEEKYDEAVDVYA
FGMCMLEMATSEYPYSECQNAAQIYRKVTSGRKPNSFHKVKIPEVKEIIEGCIRTDKNER
FTIQDLLAHAFFREERGVHVELAEEDDGEKPGLKLWLRMEDARRGGRPRDNQAIEFLFQL
GRDAAEEVAQEMVALGLVCEADYQPVARAVRERVAAIQRKREKLRKARELEALPPEPGPP
PATVPMAPGPPSVFPPEPEEPEADQHQPFLFRHASYSSTTSDCETDGYLSSSGFLDASDP
ALQPPGGVPSSLAESHLCLPSAFALSIPRSGPGSDFSPGDSYASDAASGLSDVGEGMGQM
RRPPGRNLRRRPRSRLRVTSVSDQNDRVVECQLQTHNSKMVTFRFDLDGDSPEEIAAAMV
YNEFILPSERDGFLRRIREIIQRVETLLKRDTGPMEAAEDTLSPQEEPAPLPALPVPLPD
PSNEELQSSTSLEHRSWTAFSTSSSSPGTPLSPGNPFSPGTPISPGPIFPITSPPCHPSP
SPFSPISSQVSSNPSPHPTSSPLPFSSSTPEFPVPLSQCPWSSLPTTSPPTFSPTCSQVT
LSSPFFPPCPSTSSFPSTTAAPLLSLASAFSLAVMTVAQSLLSPSPGLLSQSPPAPPSPL
PSLPLPPPVAPGGQESPSPHTAEVESEASPPPARPLPGEARLAPISEEGKPQLVGRFQVT
SSKEPAEPLPLQPTSPTLSGSPKPSTPQLTSESSDTEDSAGGGPETREALAESDRAAEGL
GAGVEEEGDDGKEPQVGGSPQPLSHPSPVWMNYSYSSLCLSSEESESSGEDEEFWAELQS
LRQKHLSEVETLQTLQKKEIEDLYSRLGKQPPPGIVAPAAMLSSRQRRLSKGSFPTSRRN
SLQRSEPPGPGIMRRNSLSGSSTGSQEQRASKGVTFAGDVGRM

• ATP + a protein = ADP + a phosphoprotein [RN:R00162]

• Pkinase (PF00069 )

• None

• None

ATGTTGGCATCCCCGGCCACGGAGACCACCGTCCTCATGTCCCAGACTGAGGCCGACCTG
GCCCTGCGGCCCCCGCCTCCTCTTGGCACCGCGGGGCAGCCCCGCCTCGGGCCCCCTCCT
CGCCGAGCGCGCCGCTTCTCCGGGAAGGCTGAGCCCCGGCCGCGCTCTTCTCGTCTCAGC
CGCCGTAGCTCAGTCGACTTGGGGCTGCTGAGCTCTTGGTCCCTGCCAGCCTCACCCGCT
CCGGACCCCCCCGATCCTCCGGACTCCGCTGGTCCTGGCCCCGCGAGGAGCCCACCGCCT
AGCTCCAAAGAACCCCCCGAGGGCACGTGGACCGAGGGAGCCCCTGTGAAGGCTGCGGAA
GACTCCGCGCGTCCCGAGCTCCCGGACTCTGCAGTGGGCCCGGGGTCCAGGGAGCCGCTA
AGGGTCCCTGAAGCTGTGGCCCTAGAGCGGCGGCGGGAGCAGGAAGAAAAGGAGGACATG
GAGACCCAGGCTGTGGCAACGTCCCCCGATGGCCGATACCTCAAGTTTGACATCGAGATT
GGACGTGGCTCCTTCAAGACGGTGTATCGAGGGCTAGACACCGACACCACAGTGGAGGTG
GCCTGGTGTGAGCTGCAGACTCGGAAACTGTCTAGAGCTGAGCGGCAGCGCTTCTCAGAG
GAGGTGGAGATGCTCAAGGGGCTGCAGCACCCCAACATCGTCCGCTTCTATGATTCGTGG
AAGTCGGTGCTGAGGGGCCAGGTTTGCATCGTGCTGGTCACCGAACTCATGACCTCGGGC
ACGCTCAAGACGTACCTGAGGCGGTTCCGGGAGATGAAGCCGCGGGTCCTTCAGCGCTGG
AGCCGCCAAATCCTGCGGGGACTTCATTTCCTACACTCCCGGGTTCCTCCCATCCTGCAC
CGGGATCTCAAGTGCGACAATGTCTTTATCACGGGACCTACTGGCTCTGTCAAAATCGGG
GACCTGGGCCTGGCCACGCTCAAGCGCGCCTCCTTTGCCAAGAGTGTCATCGGGACCCCG
GAATTCATGGCCCCCGAGATGTACGAGGAAAAGTACGATGAGGCCGTGGACGTGTACGCG
TTCGGCATGTGCATGCTGGAGATGGCCACCTCTGAGTACCCGTACTCCGAGTGCCAGAAT
GCCGCGCAAATCTACCGCAAGGTCACTTCGGGCAGAAAGCCGAACAGCTTCCACAAGGTG
AAGATACCCGAGGTGAAGGAGATCATTGAAGGCTGCATCCGCACGGATAAGAACGAGAGG
TTCACCATCCAGGACCTCCTGGCCCACGCCTTCTTCCGCGAGGAGCGCGGTGTGCACGTG
GAACTAGCGGAGGAGGACGACGGCGAGAAGCCGGGCCTCAAGCTCTGGCTGCGCATGGAG
GACGCGCGGCGCGGGGGGCGCCCACGGGACAACCAGGCCATCGAGTTCCTGTTCCAGCTG
GGCCGGGACGCGGCCGAGGAGGTGGCACAGGAGATGGTGGCTCTGGGCTTGGTCTGTGAA
GCCGATTACCAGCCAGTGGCCCGTGCAGTACGTGAACGGGTTGCTGCCATCCAGCGAAAG
CGTGAGAAGCTGCGTAAAGCAAGGGAATTGGAGGCACTCCCACCAGAGCCAGGACCTCCA
CCAGCAACTGTGCCCATGGCCCCCGGTCCCCCCAGTGTCTTCCCCCCTGAGCCTGAGGAG
CCAGAGGCAGACCAGCACCAGCCCTTCCTTTTCCGCCACGCCAGCTACTCATCTACCACT
TCGGATTGCGAGACTGATGGCTACCTCAGCTCCTCCGGCTTCCTGGATGCCTCAGACCCT
GCCCTTCAGCCCCCTGGGGGGGTGCCATCCAGCCTGGCTGAGTCCCATCTCTGCCTGCCC
TCGGCTTTTGCCCTATCCATTCCACGTTCTGGCCCTGGAAGTGACTTTTCCCCCGGGGAC
AGCTATGCCTCAGATGCAGCTTCAGGCCTTAGCGATGTGGGAGAAGGGATGGGACAAATG
AGGAGACCCCCAGGGAGGAATCTCCGGCGCAGACCCCGATCCCGGCTGCGGGTCACTAGT
GTCTCAGACCAGAATGACAGAGTGGTTGAGTGCCAGCTACAGACCCATAACAGCAAGATG
GTGACCTTCCGATTTGATCTGGATGGGGACAGCCCGGAAGAGATTGCAGCTGCCATGGTA
TATAACGAGTTCATTCTGCCTTCGGAGCGAGATGGATTTCTCAGACGGATTCGGGAGATT
ATCCAGCGAGTGGAGACCCTGTTGAAGAGAGACACTGGCCCCATGGAGGCTGCTGAAGAC
ACCCTAAGCCCCCAGGAGGAGCCAGCACCATTACCTGCCCTGCCCGTCCCCCTCCCAGAC
CCATCCAATGAAGAGCTCCAGAGCAGCACCTCCCTGGAGCACAGGAGCTGGACAGCCTTC
TCCACCTCCTCATCTTCTCCTGGAACTCCTTTGTCTCCTGGAAACCCATTTTCCCCTGGA
ACCCCCATTTCCCCAGGTCCCATCTTCCCCATCACTTCTCCCCCATGTCATCCCAGCCCC
TCCCCATTCTCCCCCATTTCTTCCCAGGTCTCCTCAAATCCCTCTCCACACCCCACCAGC
TCTCCACTTCCATTCTCCTCCAGCACACCCGAGTTTCCGGTCCCACTCTCTCAGTGTCCC
TGGAGTTCTCTCCCCACGACTTCTCCACCTACGTTCTCTCCCACTTGTTCTCAGGTCACT
CTTAGTTCCCCTTTCTTTCCTCCGTGCCCCTCCACTTCTTCCTTCCCCTCCACCACAGCA
GCCCCTCTCCTTTCTCTGGCTAGTGCCTTCTCACTGGCTGTGATGACTGTGGCCCAGTCC
CTGCTGTCCCCCTCACCTGGGCTCCTTTCCCAGTCTCCTCCAGCCCCTCCTAGTCCCCTC
CCTAGCCTGCCCCTTCCCCCTCCCGTTGCTCCTGGTGGCCAGGAAAGCCCTTCACCCCAC
ACAGCTGAGGTGGAGAGTGAGGCCTCACCACCTCCTGCTCGGCCCCTCCCAGGGGAAGCC
AGGCTGGCGCCCATCTCTGAAGAGGGAAAGCCGCAGCTTGTTGGGCGTTTCCAAGTGACT
TCATCCAAGGAACCGGCTGAGCCTCTTCCCTTGCAGCCAACATCCCCCACTCTCTCTGGT
TCTCCAAAACCTTCAACCCCTCAGCTCACTTCAGAGAGCTCAGATACAGAGGACAGTGCT
GGAGGCGGGCCAGAGACCAGGGAAGCTCTGGCTGAGAGCGACCGTGCAGCTGAGGGTCTG
GGGGCTGGAGTTGAGGAGGAAGGAGATGATGGGAAGGAACCCCAAGTTGGGGGCAGCCCC
CAACCCCTGAGCCATCCCAGCCCAGTGTGGATGAACTACTCCTACAGCAGCCTGTGTTTG
AGCAGCGAGGAGTCAGAAAGCAGTGGGGAAGATGAGGAGTTCTGGGCTGAGCTGCAGAGT
CTTCGGCAGAAGCACTTGTCAGAGGTGGAAACACTACAGACACTACAGAAAAAAGAAATT
GAAGATTTGTACAGCCGGCTGGGGAAGCAGCCCCCACCGGGTATTGTGGCCCCAGCTGCT
ATGCTGTCCAGCCGCCAGCGCCGCCTCTCCAAGGGCAGCTTCCCCACCTCCCGCCGCAAC
AGCCTACAGCGCTCTGAGCCCCCAGGCCCTGGCATCATGCGAAGGAACTCTCTGAGTGGC
AGCAGCACCGGCTCCCAGGAGCAGCGGGCAAGCAAGGGGGTGACATTCGCCGGGGATGTT
GGCAGGATGTGA

1. Wilson FH, Disse-Nicodeme S, Choate KA, Ishikawa K, Nelson-Williams C, Desitter I, Gunel M, Milford DV, Lipkin GW, Achard JM, Feely MP, Dussol B, Berland Y, Unwin RJ, Mayan H, Simon DB, Farfel Z, Jeunemaitre X, Lifton RP: Human hypertension caused by mutations in WNK kinases. Science. 2001 Aug 10;293(5532):1107-12. [PubMed ]
2. 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 ]
3. Verissimo F, Jordan P: WNK kinases, a novel protein kinase subfamily in multi-cellular organisms. Oncogene. 2001 Sep 6;20(39):5562-9. [PubMed ]
4. Greenman C, Stephens P, Smith R, Dalgliesh GL, Hunter C, Bignell G, Davies H, Teague J, Butler A, Stevens C, Edkins S, O'Meara S, Vastrik I, Schmidt EE, Avis T, Barthorpe S, Bhamra G, Buck G, Choudhury B, Clements J, Cole J, Dicks E, Forbes S, Gray K, Halliday K, Harrison R, Hills K, Hinton J, Jenkinson A, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Tofts C, Varian J, Webb T, West S, Widaa S, Yates A, Cahill DP, Louis DN, Goldstraw P, Nicholson AG, Brasseur F, Looijenga L, Weber BL, Chiew YE, DeFazio A, Greaves MF, Green AR, Campbell P, Birney E, Easton DF, Chenevix-Trench G, Tan MH, Khoo SK, Teh BT, Yuen ST, Leung SY, Wooster R, Futreal PA, Stratton MR: Patterns of somatic mutation in human cancer genomes. Nature. 2007 Mar 8;446(7132):153-8. [PubMed ]

1. ACE
2. Dipeptidyl carboxypeptidase I
3. Kininase II
4. CD143 antigen
5. Angiotensin-converting enzyme, soluble form

MGAASGRRGPGLLLPLPLLLLLPPQPALALDPGLQPGNFSADEAGAQLFAQSYNSSAEQV
LFQSVAASWAHDTNITAENARRQEEAALLSQEFAEAWGQKAKELYEPIWQNFTDPQLRRI
IGAVRTLGSANLPLAKRQQYNALLSNMSRIYSTAKVCLPNKTATCWSLDPDLTNILASSR
SYAMLLFAWEGWHNAAGIPLKPLYEDFTALSNEAYKQDGFTDTGAYWRSWYNSPTFEDDL
EHLYQQLEPLYLNLHAFVRRALHRRYGDRYINLRGPIPAHLLGDMWAQSWENIYDMVVPF
PDKPNLDVTSTMLQQGWNATHMFRVAEEFFTSLELSPMPPEFWEGSMLEKPADGREVVCH
ASAWDFYNRKDFRIKQCTRVTMDQLSTVHHEMGHIQYYLQYKDLPVSLRRGANPGFHEAI
GDVLALSVSTPEHLHKIGLLDRVTNDTESDINYLLKMALEKIAFLPFGYLVDQWRWGVFS
GRTPPSRYNFDWWYLRTKYQGICPPVTRNETHFDAGAKFHVPNVTPYIRYFVSFVLQFQF
HEALCKEAGYEGPLHQCDIYRSTKAGAKLRKVLQAGSSRPWQEVLKDMVGLDALDAQPLL
KYFQPVTQWLQEQNQQNGEVLGWPEYQWHPPLPDNYPEGIDLVTDEAEASKFVEEYDRTS
QVVWNEYAEANWNYNTNITTETSKILLQKNMQIANHTLKYGTQARKFDVNQLQNTTIKRI
IKKVQDLERAALPAQELEEYNKILLDMETTYSVATVCHPNGSCLQLEPDLTNVMATSRKY
EDLLWAWEGWRDKAGRAILQFYPKYVELINQAARLNGYVDAGDSWRSMYETPSLEQDLER
LFQELQPLYLNLHAYVRRALHRHYGAQHINLEGPIPAHLLGNMWAQTWSNIYDLVVPFPS
APSMDTTEAMLKQGWTPRRMFKEADDFFTSLGLLPVPPEFWNKSMLEKPTDGREVVCHAS
AWDFYNGKDFRIKQCTTVNLEDLVVAHHEMGHIQYFMQYKDLPVALREGANPGFHEAIGD
VLALSVSTPKHLHSLNLLSSEGGSDEHDINFLMKMALDKIAFIPFSYLVDQWRWRVFDGS
ITKENYNQEWWSLRLKYQGLCPPVPRTQGDFDPGAKFHIPSSVPYIRYFVSFIIQFQFHE
ALCQAAGHTGPLHKCDIYQSKEAGQRLATAMKLGFSRPWPEAMQLITGQPNMSASAMLSY
FKPLLDWLRTENELHGEKLGWPQYNWTPNSARSEGPLPDSGRVSFLGLDLDAQQARVGQW
LLLFLGIALLVATLGLSQRLFSIRHRSLHRHSHGPQFGSEVELRHS

• Release of a C-terminal dipeptide, oligopeptide!Xaa-Yaa, when Xaa is not Pro, and Yaa is neither Asp nor Glu. Thus, conversion of angiotensin I to angiotensin II, with increase in vasoconstrictor activity, but no action on angiotensin II COFACTOR Zinc [CPD:C00038] INHIBITOR (S)-N-[3-(3,4-Methylenedioxyphenyl)-2-(mercaptomethyl)-1-oxoprolyl]g lycine [CPD:C01313]
• (S)-N-[3-(3,4-Methylenedioxyphenyl)-2-(mercaptomethyl)-1-oxoprolyl]- (S)-alanine [CPD:C01314]
• (S)-N-[3-(3,4-Methylenedioxyphenyl)-2-(acetylthio)methyl-1-oxoprolyl ]glycine benzyl ester [CPD:C01315]
• (S)-N-[3-(3,4-Methylenedioxyphenyl)-2-(acetylthio)methyl-1-oxoprolyl ]-(S)-alanine benzyl ester [CPD:C01316]

• Peptidase_M2 (PF01401 )

• 1-29

• 1257-1277

ATGGGGGCCGCCTCGGGCCGCCGGGGGCCGGGGCTGCTGCTGCCGCTGCCGCTGCTGTTG
CTGCTGCCGCCGCAGCCCGCCCTGGCGTTGGACCCCGGGCTGCAGCCCGGCAACTTTTCT
GCTGACGAGGCCGGGGCGCAGCTCTTCGCGCAGAGCTACAACTCCAGCGCCGAACAGGTG
CTGTTCCAGAGCGTGGCCGCCAGCTGGGCGCACGACACCAACATCACCGCGGAGAATGCA
AGGCGCCAGGAGGAAGCAGCCCTGCTCAGCCAGGAGTTTGCGGAGGCCTGGGGCCAGAAG
GCCAAGGAGCTGTATGAACCGATCTGGCAGAACTTCACGGACCCGCAGCTGCGCAGGATC
ATCGGAGCTGTGCGAACCCTGGGCTCTGCCAACCTGCCCCTGGCTAAGCGGCAGCAGTAC
AACGCCCTGCTAAGCAACATGAGCAGGATCTACTCCACCGCCAAGGTCTGCCTCCCCAAC
AAGACTGCCACCTGCTGGTCCCTGGACCCAGATCTCACCAACATCCTGGCTTCCTCGCGA
AGCTACGCCATGCTCCTGTTTGCCTGGGAGGGCTGGCACAACGCTGCGGGCATCCCGCTG
AAACCGCTGTACGAGGATTTCACTGCCCTCAGCAATGAAGCCTACAAGCAGGACGGCTTC
ACAGACACGGGGGCCTACTGGCGCTCCTGGTACAACTCCCCCACCTTCGAGGACGATCTG
GAACACCTCTACCAACAGCTAGAGCCCCTCTACCTGAACCTCCATGCCTTCGTCCGCCGC
GCACTGCATCGCCGATACGGAGACAGATACATCAACCTCAGGGGACCCATCCCTGCTCAT
CTGCTGGGAGACATGTGGGCCCAGAGCTGGGAAAACATCTACGACATGGTGGTGCCTTTC
CCAGACAAGCCCAACCTCGATGTCACCAGTACTATGCTGCAGCAGGGCTGGAACGCCACG
CACATGTTCCGGGTGGCAGAGGAGTTCTTCACCTCCCTGGAGCTCTCCCCCATGCCTCCC
GAGTTCTGGGAAGGGTCGATGCTGGAGAAGCCGGCCGACGGGCGGGAAGTGGTGTGCCAC
GCCTCGGCTTGGGACTTCTACAACAGGAAAGACTTCAGGATCAAGCAGTGCACACGGGTC
ACGATGGACCAGCTCTCCACAGTGCACCATGAGATGGGCCATATACAGTACTACCTGCAG
TACAAGGATCTGCCCGTCTCCCTGCGTCGGGGGGCCAACCCCGGCTTCCATGAGGCCATT
GGGGACGTGCTGGCGCTCTCGGTCTCCACTCCTGAACATCTGCACAAAATCGGCCTGCTG
GACCGTGTCACCAATGACACGGAAAGTGACATCAATTACTTGCTAAAAATGGCACTGGAA
AAAATTGCCTTCCTGCCCTTTGGCTACTTGGTGGACCAGTGGCGCTGGGGGGTCTTTAGT
GGGCGTACCCCCCCTTCCCGCTACAACTTCGACTGGTGGTATCTTCGAACCAAGTATCAG
GGGATCTGTCCTCCTGTTACCCGAAACGAAACCCACTTTGATGCTGGAGCTAAGTTTCAT
GTTCCAAATGTGACACCATACATCAGGTACTTTGTGAGTTTTGTCCTGCAGTTCCAGTTC
CATGAAGCCCTGTGCAAGGAGGCAGGCTATGAGGGCCCACTGCACCAGTGTGACATCTAC
CGGTCCACCAAGGCAGGGGCCAAGCTCCGGAAGGTGCTGCAGGCTGGCTCCTCCAGGCCC
TGGCAGGAGGTGCTGAAGGACATGGTCGGCTTAGATGCCCTGGATGCCCAGCCGCTGCTC
AAGTACTTCCAGCCAGTCACCCAGTGGCTGCAGGAGCAGAACCAGCAGAACGGCGAGGTC
CTGGGCTGGCCCGAGTACCAGTGGCACCCGCCGTTGCCTGACAACTACCCGGAGGGCATA
GACCTGGTGACTGATGAGGCTGAGGCCAGCAAGTTTGTGGAGGAATATGACCGGACATCC
CAGGTGGTGTGGAACGAGTATGCCGAGGCCAACTGGAACTACAACACCAACATCACCACA
GAGACCAGCAAGATTCTGCTGCAGAAGAACATGCAAATAGCCAACCACACCCTGAAGTAC
GGCACCCAGGCCAGGAAGTTTGATGTGAACCAGTTGCAGAACACCACTATCAAGCGGATC
ATAAAGAAGGTTCAGGACCTAGAACGGGCAGCGCTGCCTGCCCAGGAGCTGGAGGAGTAC
AACAAGATCCTGTTGGATATGGAAACCACCTACAGCGTGGCCACTGTGTGCCACCCGAAT
GGCAGCTGCCTGCAGCTCGAGCCAGATCTGACGAATGTGATGGCCACATCCCGGAAATAT
GAAGACCTGTTATGGGCATGGGAGGGCTGGCGAGACAAGGCGGGGAGAGCCATCCTCCAG
TTTTACCCGAAATACGTGGAACTCATCAACCAGGCTGCCCGGCTCAATGGCTATGTAGAT
GCAGGGGACTCGTGGAGGTCTATGTACGAGACACCATCCCTGGAGCAAGACCTGGAGCGG
CTCTTCCAGGAGCTGCAGCCACTCTACCTCAACCTGCATGCCTACGTGCGCCGGGCCCTG
CACCGTCACTACGGGGCCCAGCACATCAACCTGGAGGGGCCCATTCCTGCTCACCTGCTG
GGGAACATGTGGGCGCAGACCTGGTCCAACATCTATGACTTGGTGGTGCCCTTCCCTTCA
GCCCCCTCGATGGACACCACAGAGGCTATGCTAAAGCAGGGCTGGACGCCCAGGAGGATG
TTTAAGGAGGCTGATGATTTCTTCACCTCCCTGGGGCTGCTGCCCGTGCCTCCTGAGTTC
TGGAACAAGTCGATGCTGGAGAAGCCAACCGACGGGCGGGAGGTGGTCTGCCACGCCTCG
GCCTGGGACTTCTACAACGGCAAGGACTTCCGGATCAAGCAGTGCACCACCGTGAACTTG
GAGGACCTGGTGGTGGCCCACCACGAAATGGGCCACATCCAGTATTTCATGCAGTACAAA
GACTTACCTGTGGCCTTGAGGGAGGGTGCCAACCCCGGCTTCCATGAGGCCATTGGGGAC
GTGCTAGCCCTCTCAGTGTCTACGCCCAAGCACCTGCACAGTCTCAACCTGCTGAGCAGT
GAGGGTGGCAGCGACGAGCATGACATCAACTTTCTGATGAAGATGGCCCTTGACAAGATC
GCCTTTATCCCCTTCAGCTACCTCGTCGATCAGTGGCGCTGGAGGGTATTTGATGGAAGC
ATCACCAAGGAGAACTATAACCAGGAGTGGTGGAGCCTCAGGCTGAAGTACCAGGGCCTC
TGCCCCCCAGTGCCCAGGACTCAAGGTGACTTTGACCCAGGGGCCAAGTTCCACATTCCT
TCTAGCGTGCCTTACATCAGGTACTTTGTCAGCTTCATCATCCAGTTCCAGTTCCACGAG
GCACTGTGCCAGGCAGCTGGCCACACGGGCCCCCTGCACAAGTGTGACATCTACCAGTCC
AAGGAGGCCGGGCAGCGCCTGGCGACCGCCATGAAGCTGGGCTTCAGTAGGCCGTGGCCG
GAAGCCATGCAGCTGATCACGGGCCAGCCCAACATGAGCGCCTCGGCCATGTTGAGCTAC
TTCAAGCCGCTGCTGGACTGGCTCCGCACGGAGAACGAGCTGCATGGGGAGAAGCTGGGC
TGGCCGCAGTACAACTGGACGCCGAACTCCGCTCGCTCAGAAGGGCCCCTCCCAGACAGC
GGCCGCGTCAGCTTCCTGGGCCTGGACCTGGATGCGCAGCAGGCCCGCGTGGGCCAGTGG
CTGCTGCTCTTCCTGGGCATCGCCCTGCTGGTAGCCACCCTGGGCCTCAGCCAGCGGCTC
TTCAGCATCCGCCACCGCAGCCTCCACCGGCACTCCCACGGGCCCCAGTTCGGCTCCGAG
GTGGAGCTGAGACACTCCTGA

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1. 72 kDa ICln-binding protein
2. Histone-arginine N-methyltransferase PRMT5
3. Jak-binding protein 1
4. Shk1 kinase-binding protein 1 homolog
5. SKB1 homolog
6. SKB1Hs

MAAMAVGGAGGSRVSSGRDLNCVPEIADTLGAVAKQGFDFLCMPVFHPRFKREFIQEPAK
NRPGPQTRSDLLLSGRDWNTLIVGKLSPWIRPDSKVEKIRRNSEAAMLQELNFGAYLGLP
AFLLPLNQEDNTNLARVLTNHIHTGHHSSMFWMRVPLVAPEDLRDDIIENAPTTHTEEYS
GEEKTWMWWHNFRTLCDYSKRIAVALEIGADLPSNHVIDRWLGEPIKAAILPTSIFLTNK
KGFPVLSKMHQRLIFRLLKLEVQFIITGTNHHSEKEFCSYLQYLEYLSQNRPPPNAYELF
AKGYEDYLQSPLQPLMDNLESQTYEVFEKDPIKYSQYQQAIYKCLLDRVPEEEKDTNVQV
LMVLGAGRGPLVNASLRAAKQADRRIKLYAVEKNPNAVVTLENWQFEEWGSQVTVVSSDM
REWVAPEKADIIVSELLGSFADNELSPECLDGAQHFLKDDGVSIPGEYTSFLAPISSSKL
YNEVRACREKDRDPEAQFEMPYVVRLHNFHQLSAPQPCFTFSHPNRDPMIDNNRYCTLEF
PVEVNTVLHGFAGYFETVLYQDITLSIRPETHSPGMFSWFPILFPIKQPITVREGQTICV
RFWRCSNSKKVWYEWAVTAPVCSAIHNPTGRSYTIGL

• S-adenosyl-L-methionine + histone-arginine = S-adenosyl-L-homocysteine + histone-Nomega-methyl-arginine [RN:R04718]

• PRMT5 (PF05185 )

• None

• None

ATGGCGGCGATGGCGGTCGGGGGTGCTGGTGGGAGCCGCGTGTCCAGCGGGAGGGACCTG
AATTGCGTCCCCGAAATAGCTGACACACTAGGGGCTGTGGCCAAGCAGGGGTTTGATTTC
CTCTGCATGCCTGTCTTCCATCCGCGTTTCAAGAGGGAGTTCATTCAGGAACCTGCTAAG
AATCGGCCCGGTCCCCAGACACGATCAGACCTACTGCTGTCAGGAAGGGACTGGAATACG
CTAATTGTGGGAAAGCTTTCTCCATGGATTCGTCCAGACTCAAAAGTGGAGAAGATTCGC
AGGAACTCCGAGGCGGCCATGTTACAGGAGCTGAATTTTGGTGCATATTTGGGTCTTCCA
GCTTTCCTGCTGCCCCTTAATCAGGAAGATAACACCAACCTGGCCAGAGTTTTGACCAAC
CACATCCACACTGGCCATCACTCTTCCATGTTCTGGATGCGGGTACCCTTGGTGGCACCA
GAGGACCTGAGAGATGATATAATTGAGAATGCACCAACTACACACACAGAGGAGTACAGT
GGGGAGGAGAAAACGTGGATGTGGTGGCACAACTTCCGGACTTTGTGTGACTATAGTAAG
AGGATTGCAGTGGCTCTTGAAATTGGGGCTGACCTCCCATCTAATCATGTCATTGATCGC
TGGCTTGGGGAGCCCATCAAAGCAGCCATTCTCCCCACTAGCATTTTCCTGACCAATAAG
AAGGGATTTCCTGTTCTTTCTAAGATGCACCAGAGGCTCATCTTCCGGCTCCTCAAGTTG
GAGGTGCAGTTCATCATCACAGGCACCAACCACCACTCAGAGAAGGAGTTCTGCTCCTAC
CTCCAATACCTGGAATACTTAAGCCAGAACCGTCCTCCACCTAATGCCTATGAACTCTTT
GCCAAGGGCTATGAAGACTATCTGCAGTCCCCGCTTCAGCCACTGATGGACAATCTGGAA
TCTCAGACATATGAAGTGTTTGAAAAGGACCCCATCAAATACTCTCAGTACCAGCAGGCC
ATCTATAAATGTCTGCTAGACCGAGTACCAGAAGAGGAGAAGGATACCAATGTCCAGGTA
CTGATGGTGCTGGGAGCAGGACGGGGACCCCTGGTGAACGCTTCCCTGCGGGCAGCCAAG
CAGGCCGACCGGCGGATAAAGCTGTATGCTGTGGAGAAAAACCCAAATGCCGTGGTGACG
CTAGAGAACTGGCAGTTTGAAGAATGGGGAAGCCAAGTGACCGTAGTCTCATCAGACATG
AGGGAATGGGTGGCTCCAGAGAAAGCAGACATCATTGTCAGTGAGCTTCTGGGCTCATTT
GCTGACAATGAATTGTCGCCTGAGTGCCTGGATGGAGCCCAGCACTTCCTAAAAGATGAT
GGTGTGAGCATCCCCGGGGAGTACACTTCCTTTCTGGCTCCCATCTCTTCCTCCAAGCTG
TACAATGAGGTCCGAGCCTGTAGGGAGAAGGACCGTGACCCTGAGGCCCAGTTTGAGATG
CCTTATGTGGTACGGCTGCACAACTTCCACCAGCTCTCTGCACCCCAGCCCTGTTTCACC
TTCAGCCATCCCAACAGAGATCCTATGATTGACAACAACCGCTATTGCACCTTGGAATTT
CCTGTGGAGGTGAACACAGTACTACATGGCTTTGCCGGCTACTTTGAGACTGTGCTTTAT
CAGGACATCACTCTGAGTATCCGTCCAGAGACTCACTCTCCCGGGATGTTCTCATGGTTT
CCCATCCTCTTCCCTATTAAGCAGCCCATAACGGTACGTGAAGGCCAAACCATCTGTGTG
CGTTTCTGGCGATGCAGCAATTCCAAGAAGGTGTGGTATGAGTGGGCTGTGACAGCACCA
GTCTGTTCTGCTATTCATAACCCCACAGGCCGCTCATATACCATTGGCCTCTAA

1. Krapivinsky G, Pu W, Wickman K, Krapivinsky L, Clapham DE: pICln binds to a mammalian homolog of a yeast protein involved in regulation of cell morphology. J Biol Chem. 1998 May 1;273(18):10811-4. [PubMed ]
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4. Goshima N, Kawamura Y, Fukumoto A, Miura A, Honma R, Satoh R, Wakamatsu A, Yamamoto J, Kimura K, Nishikawa T, Andoh T, Iida Y, Ishikawa K, Ito E, Kagawa N, Kaminaga C, Kanehori K, Kawakami B, Kenmochi K, Kimura R, Kobayashi M, Kuroita T, Kuwayama H, Maruyama Y, Matsuo K, Minami K, Mitsubori M, Mori M, Morishita R, Murase A, Nishikawa A, Nishikawa S, Okamoto T, Sakagami N, Sakamoto Y, Sasaki Y, Seki T, Sono S, Sugiyama A, Sumiya T, Takayama T, Takayama Y, Takeda H, Togashi T, Yahata K, Yamada H, Yanagisawa Y, Endo Y, Imamoto F, Kisu Y, Tanaka S, Isogai T, Imai J, Watanabe S, Nomura N: Human protein factory for converting the transcriptome into an in vitro-expressed proteome,. Nat Methods. 2008 Dec;5(12):1011-7. [PubMed ]
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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. Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M: Lysine acetylation targets protein complexes and co-regulates major cellular functions. Science. 2009 Aug 14;325(5942):834-40. Epub 2009 Jul 16. [PubMed ]
18. Ren J, Wang Y, Liang Y, Zhang Y, Bao S, Xu Z: Methylation of ribosomal protein S10 by protein-arginine methyltransferase 5 regulates ribosome biogenesis. J Biol Chem. 2010 Apr 23;285(17):12695-705. Epub 2010 Feb 16. [PubMed ]

1. 1,4-alpha-D-glucan glucanohydrolase 1
2. Salivary alpha-amylase

MKLFWLLFTIGFCWAQYSSNTQQGRTSIVHLFEWRWVDIALECERYLAPKGFGGVQVSPP
NENVAIHNPFRPWWERYQPVSYKLCTRSGNEDEFRNMVTRCNNVGVRIYVDAVINHMCGN
AVSAGTSSTCGSYFNPGSRDFPAVPYSGWDFNDGKCKTGSGDIENYNDATQVRDCRLSGL
LDLALGKDYVRSKIAEYMNHLIDIGVAGFRIDASKHMWPGDIKAILDKLHNLNSNWFPEG
SKPFIYQEVIDLGGEPIKSSDYFGNGRVTEFKYGAKLGTVIRKWNGEKMSYLKNWGEGWG
FMPSDRALVFVDNHDNQRGHGAGGASILTFWDARLYKMAVGFMLAHPYGFTRVMSSYRWP
RYFENGKDVNDWVGPPNDNGVTKEVTINPDTTCGNDWVCEHRWRQIRNMVNFRNVVDGQP
FTNWYDNGSNQVAFGRGNRGFIVFNNDDWTFSLTLQTGLPAGTYCDVISGDKINGNCTGI
KIYVSDDGKAHFSISNSAEDPFIAIHAESKL

• Starch and Sucrose Metabolism (map00500 )

• Endohydrolysis of (1->4)-alpha-D-glucosidic linkages in polysaccharides containing three or more (1->4)-alpha-linked D-glucose units ALL_REAC (other) R02108 R06209(G)

• Alpha-amylase (PF00128 )
• Alpha-amylase_C (PF02806 )

• 1-15

• None

ATGAAGCTCTTTTGGTTGCTTTTCACCATTGGGTTCTGCTGGGCTCAGTATTCCTCAAAT
ACACAACAAGGACGAACATCTATTGTTCATCTGTTTGAATGGCGATGGGTTGATATTGCT
CTTGAATGTGAGCGATATTTAGCTCCCAAGGGATTTGGAGGGGTTCAGGTCTCTCCACCA
AATGAAAATGTTGCCATTCACAACCCTTTCAGACCTTGGTGGGAAAGATACCAACCAGTT
AGCTATAAATTATGCACAAGATCTGGAAATGAAGATGAATTTAGAAACATGGTGACTAGA
TGCAACAATGTTGGGGTTCGTATTTATGTGGATGCTGTAATTAATCATATGTGTGGTAAT
GCTGTGAGTGCAGGAACAAGCAGTACCTGTGGAAGTTACTTCAACCCTGGAAGTAGGGAC
TTTCCAGCAGTCCCATATTCTGGATGGGATTTTAATGATGGTAAATGTAAAACTGGAAGT
GGAGATATCGAGAACTATAATGATGCTACTCAGGTCAGAGATTGTCGTCTGTCTGGTCTT
CTCGATCTTGCACTGGGGAAGGATTATGTGCGTTCTAAGATTGCCGAATATATGAACCAT
CTCATTGACATTGGTGTTGCAGGGTTCAGAATTGATGCTTCCAAGCACATGTGGCCTGGA
GACATAAAGGCAATTTTGGACAAACTGCATAATCTAAACAGTAACTGGTTCCCGGAAGGT
AGTAAACCTTTCATTTACCAGGAGGTAATTGATCTGGGTGGTGAGCCAATTAAAAGCAGT
GACTACTTTGGTAATGGCCGGGTGACAGAATTCAAGTATGGTGCAAAACTCGGCACAGTT
ATTCGCAAGTGGAATGGAGAGAAGATGTCTTACTTAAAGAACTGGGGAGAAGGTTGGGGT
TTCATGCCTTCTGACAGAGCGCTTGTCTTTGTGGATAACCATGACAATCAACGAGGACAT
GGCGCTGGAGGAGCCTCTATACTTACCTTCTGGGATGCTAGGCTGTACAAAATGGCAGTT
GGATTTATGCTTGCTCATCCTTATGGATTTACACGAGTAATGTCAAGCTACCGTTGGCCA
AGATATTTTGAAAATGGAAAAGATGTTAATGATTGGGTTGGGCCACCAAATGATAATGGA
GTAACTAAAGAAGTTACTATTAATCCAGACACTACTTGTGGCAATGACTGGGTCTGTGAA
CATCGATGGCGCCAAATAAGGAACATGGTTAATTTCCGCAATGTAGTGGATGGCCAGCCT
TTTACAAACTGGTATGATAATGGGAGCAACCAAGTGGCTTTTGGGAGAGGAAACAGAGGA
TTCATTGTTTTCAACAATGATGACTGGACATTTTCTTTAACTTTGCAAACTGGTCTTCCT
GCTGGCACATACTGTGATGTCATTTCTGGAGATAAAATTAATGGCAACTGCACAGGCATT
AAAATCTACGTTTCTGATGATGGCAAAGCTCATTTTTCTATTAGTAACTCTGCTGAAGAT
CCATTTATTGCAATTCATGCTGAATCTAAATTGTAA

1. Nishide T, Nakamura Y, Emi M, Yamamoto T, Ogawa M, Mori T, Matsubara K: Primary structure of human salivary alpha-amylase gene. Gene. 1986;41(2-3):299-304. [PubMed ]
2. Nishide T, Emi M, Nakamura Y, Matsubara K: Corrected sequences of cDNAs for human salivary and pancreatic alpha-amylases [corrected] Gene. 1984 May;28(2):263-70. [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. 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. Gumucio DL, Wiebauer K, Caldwell RM, Samuelson LC, Meisler MH: Concerted evolution of human amylase genes. Mol Cell Biol. 1988 Mar;8(3):1197-205. [PubMed ]
7. Handy DE, Larsen SH, Karn RC, Hodes ME: Identification of a human salivary amylase gene. Partial sequence of genomic DNA suggests a mode of regulation different from that of mouse, Amy1. Mol Biol Med. 1987 Jun;4(3):145-55. [PubMed ]
8. Bank RA, Hettema EH, Arwert F, Amerongen AV, Pronk JC: Electrophoretic characterization of posttranslational modifications of human parotid salivary alpha-amylase. Electrophoresis. 1991 Jan;12(1):74-9. [PubMed ]
9. 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 ]
10. Ramasubbu N, Paloth V, Luo Y, Brayer GD, Levine MJ: Structure of human salivary alpha-amylase at 1.6 A resolution: implications for its role in the oral cavity. Acta Crystallogr D Biol Crystallogr. 1996 May 1;52(Pt 3):435-46. [PubMed ]
11. Ramasubbu N, Ragunath C, Mishra PJ: Probing the role of a mobile loop in substrate binding and enzyme activity of human salivary amylase. J Mol Biol. 2003 Jan 31;325(5):1061-76. [PubMed ]

1. PA
2. 1,4-alpha-D-glucan glucanohydrolase

MKFFLLLFTIGFCWAQYSPNTQQGRTSIVHLFEWRWVDIALECERYLAPKGFGGVQVSPP
NENVAIYNPFRPWWERYQPVSYKLCTRSGNEDEFRNMVTRCNNVGVRIYVDAVINHMCGN
AVSAGTSSTCGSYFNPGSRDFPAVPYSGWDFNDGKCKTGSGDIENYNDATQVRDCRLTGL
LDLALEKDYVRSKIAEYMNHLIDIGVAGFRLDASKHMWPGDIKAILDKLHNLNSNWFPAG
SKPFIYQEVIDLGGEPIKSSDYFGNGRVTEFKYGAKLGTVIRKWNGEKMSYLKNWGEGWG
FVPSDRALVFVDNHDNQRGHGAGGASILTFWDARLYKMAVGFMLAHPYGFTRVMSSYRWP
RQFQNGNDVNDWVGPPNNNGVIKEVTINPDTTCGNDWVCEHRWRQIRNMVIFRNVVDGQP
FTNWYDNGSNQVAFGRGNRGFIVFNNDDWSFSLTLQTGLPAGTYCDVISGDKINGNCTGI
KIYVSDDGKAHFSISNSAEDPFIAIHAESKL

• Starch and Sucrose Metabolism (map00500 )

• Endohydrolysis of (1->4)-alpha-D-glucosidic linkages in polysaccharides containing three or more (1->4)-alpha-linked D-glucose units ALL_REAC (other) R02108 R06209(G)

• Alpha-amylase (PF00128 )
• Alpha-amylase_C (PF02806 )

• 1-15

• None

ATGAAGTTCTTTCTGTTGCTTTTCACCATTGGGTTCTGCTGGGCTCAGTATTCCCCAAAT
ACACAACAAGGACGGACATCTATTGTTCATCTGTTTGAATGGCGATGGGTTGATATTGCT
CTTGAATGTGAGCGATATTTAGCTCCGAAGGGATTTGGAGGGGTTCAGGTCTCTCCACCA
AATGAAAATGTTGCAATTTACAACCCTTTCAGACCTTGGTGGGAAAGATACCAACCAGTT
AGCTATAAATTATGCACAAGATCTGGAAATGAAGATGAATTTAGAAACATGGTGACTAGA
TGTAACAATGTTGGGGTTCGTATTTATGTGGATGCTGTAATTAATCATATGTGTGGTAAC
GCTGTGAGTGCAGGAACAAGCAGTACCTGTGGAAGTTACTTCAACCCTGGAAGTAGGGAC
TTTCCAGCAGTCCCATATTCTGGATGGGATTTCAATGATGGTAAATGTAAAACTGGAAGT
GGAGATATCGAGAATTACAATGATGCTACTCAGGTCAGAGATTGTCGTCTGACTGGTCTT
CTTGATCTTGCACTGGAGAAGGATTACGTGCGTTCTAAGATTGCCGAATATATGAACCAT
CTCATTGACATTGGTGTTGCAGGGTTCAGACTTGATGCTTCCAAGCACATGTGGCCTGGA
GACATAAAGGCAATTTTGGACAAACTGCATAATCTAAACAGTAACTGGTTCCCTGCAGGA
AGTAAACCTTTCATTTACCAGGAGGTAATTGATCTGGGTGGTGAGCCAATTAAAAGCAGT
GACTACTTTGGTAATGGCCGGGTGACAGAATTCAAGTATGGTGCAAAACTCGGCACAGTT
ATTCGCAAGTGGAATGGAGAGAAGATGTCTTACTTAAAGAACTGGGGAGAAGGTTGGGGT
TTCGTACCTTCTGACAGAGCGCTTGTCTTTGTGGATAACCATGACAATCAACGAGGACAT
GGGGCTGGAGGAGCCTCTATTCTTACCTTCTGGGATGCTAGGCTGTACAAAATGGCAGTT
GGATTTATGCTTGCTCATCCTTACGGATTTACACGAGTAATGTCAAGCTACCGTTGGCCA
AGACAGTTTCAAAATGGAAACGATGTTAACGATTGGGTTGGGCCACCAAATAATAATGGA
GTAATTAAAGAAGTTACTATTAATCCAGACACTACTTGTGGCAATGACTGGGTCTGTGAA
CATCGATGGCGCCAAATAAGGAACATGGTTATTTTCCGCAATGTAGTGGATGGCCAGCCT
TTTACAAATTGGTATGATAATGGGAGCAACCAAGTGGCTTTTGGGAGAGGAAACAGAGGA
TTCATTGTTTTCAACAATGATGACTGGTCATTTTCTTTAACTTTGCAAACTGGTCTTCCT
GCTGGCACATACTGTGATGTCATTTCTGGAGATAAAATTAATGGCAATTGCACAGGCATT
AAAATTTACGTTTCTGATGATGGCAAAGCTCATTTTTCTATTAGTAACTCTGCTGAAGAT
CCATTTATTGCAATTCATGCTGAATCTAAATTGTAA

1. Nishide T, Emi M, Nakamura Y, Matsubara K: Corrected sequences of cDNAs for human salivary and pancreatic alpha-amylases [corrected] Gene. 1984 May;28(2):263-70. [PubMed ]
2. Horii A, Emi M, Tomita N, Nishide T, Ogawa M, Mori T, Matsubara K: Primary structure of human pancreatic alpha-amylase gene: its comparison with human salivary alpha-amylase gene. Gene. 1987;60(1):57-64. [PubMed ]
3. Wise RJ, Karn RC, Larsen SH, Hodes ME, Gardell SJ, Rutter WJ: A complementary DNA sequence that predicts a human pancreatic amylase primary structure consistent with the electrophoretic mobility of the common isozyme, Amy2 A. Mol Biol Med. 1984 Oct;2(5):307-22. [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. Groot PC, Bleeker MJ, Pronk JC, Arwert F, Mager WH, Planta RJ, Eriksson AW, Frants RR: Human pancreatic amylase is encoded by two different genes. Nucleic Acids Res. 1988 May 25;16(10):4724. [PubMed ]
6. Gumucio DL, Wiebauer K, Caldwell RM, Samuelson LC, Meisler MH: Concerted evolution of human amylase genes. Mol Cell Biol. 1988 Mar;8(3):1197-205. [PubMed ]
7. Qian M, Haser R, Buisson G, Duee E, Payan F: The active center of a mammalian alpha-amylase. Structure of the complex of a pancreatic alpha-amylase with a carbohydrate inhibitor refined to 2.2-A resolution. Biochemistry. 1994 May 24;33(20):6284-94. [PubMed ]
8. Brayer GD, Luo Y, Withers SG: The structure of human pancreatic alpha-amylase at 1.8 A resolution and comparisons with related enzymes. Protein Sci. 1995 Sep;4(9):1730-42. [PubMed ]
9. Rydberg EH, Sidhu G, Vo HC, Hewitt J, Cote HC, Wang Y, Numao S, MacGillivray RT, Overall CM, Brayer GD, Withers SG: Cloning, mutagenesis, and structural analysis of human pancreatic alpha-amylase expressed in Pichia pastoris. Protein Sci. 1999 Mar;8(3):635-43. [PubMed ]
10. Brayer GD, Sidhu G, Maurus R, Rydberg EH, Braun C, Wang Y, Nguyen NT, Overall CM, Withers SG: Subsite mapping of the human pancreatic alpha-amylase active site through structural, kinetic, and mutagenesis techniques. Biochemistry. 2000 Apr 25;39(16):4778-91. [PubMed ]
11. Numao S, Maurus R, Sidhu G, Wang Y, Overall CM, Brayer GD, Withers SG: Probing the role of the chloride ion in the mechanism of human pancreatic alpha-amylase. Biochemistry. 2002 Jan 8;41(1):215-25. [PubMed ]
12. Rydberg EH, Li C, Maurus R, Overall CM, Brayer GD, Withers SG: Mechanistic analyses of catalysis in human pancreatic alpha-amylase: detailed kinetic and structural studies of mutants of three conserved carboxylic acids. Biochemistry. 2002 Apr 2;41(13):4492-502. [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

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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 ]
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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 ]
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1. 1,4-alpha-D-glucan glucanohydrolase 2B
2. Carcinoid alpha-amylase

MKFFLLLFTIGFCWAQYSPNTQQGRTSIVHLFEWRWVDIALECERYLAPKGFGGVQVSPP
NENVAIHNPFRPWWERYQPVSYKLCTRSGNEDEFRNMVTRCNNVGVRIYVDAVINHMSGN
AVSAGTSSTCGSYFNPGSRDFPAVPYSGWDFNDGKCKTGSGDIENYNDATQVRDCRLVGL
LDLALEKDYVRSKIAEYMNHLIDIGVAGFRLDASKHMWPGDIKAILDKLHNLNSNWFPAG
SKPFIYQEVIDLGGEPIKSSDYFGNGRVTEFKYGAKLGTVIRKWNGEKMSYLKNWGEGWG
FMPSDRALVFVDNHDNQRGHGAGGASILTFWDARLYKMAVGFMLAHPYGFTRVMSSYRWP
RQFQNGNDVNDWVGPPNNNGVIKEVTINPDTTCGNDWVCEHRWRQIRNMVNFRNVVDGQP
FTNWYDNGSNQVAFGRGNRGFIVFNNDDWTFSLTLQTGLPAGTYCDVISGDKINGNCTGI
KIYVSDDGKAHFSISNSAEDPFIAIHAESKL

• Starch and Sucrose Metabolism (map00500 )

• Endohydrolysis of (1->4)-alpha-D-glucosidic linkages in polysaccharides containing three or more (1->4)-alpha-linked D-glucose units ALL_REAC (other) R02108 R06209(G)

• Alpha-amylase (PF00128 )
• Alpha-amylase_C (PF02806 )

• 1-15

• None

ATGAAGTTCTTTCTGTTGCTTTTCACCATTGGGTTCTGCTGGGCTCAGTATTCCCCAAAT
ACACAACAAGGACGGACATCTATTGTTCATCTGTTTGAATGGCGATGGGTTGATATTGCT
CTTGAATGTGAGCGATATTTAGCTCCCAAGGGATTTGGAGGGGTTCAGGTCTCTCCACCA
AATGAAAATGTTGCAATTCACAACCCTTTCAGACCTTGGTGGGAAAGATACCAACCAGTT
AGCTATAAATTATGCACAAGATCTGGAAATGAAGATGAATTTAGAAACATGGTGACTAGA
TGTAACAATGTTGGGGTTCGTATTTATGTGGATGCTGTAATTAATCATATGTCTGGTAAT
GCTGTGAGTGCAGGAACAAGCAGTACCTGTGGAAGTTACTTCAACCCTGGAAGTAGGGAC
TTTCCAGCAGTCCCATATTCTGGATGGGATTTTAATGATGGTAAATGTAAAACTGGAAGT
GGAGATATCGAGAACTACAATGATGCTACTCAGGTCAGAGATTGTCGTCTGGTTGGTCTT
CTTGATCTTGCACTGGAGAAAGATTATGTGCGTTCCAAGATTGCCGAATATATGAATCAT
CTCATTGACATTGGTGTTGCAGGGTTCAGACTTGATGCTTCCAAGCACATGTGGCCTGGA
GACATAAAGGCAATTTTGGACAAACTGCATAATCTAAACAGTAACTGGTTCCCTGCAGGA
AGTAAACCTTTCATTTACCAGGAGGTAATTGATCTGGGTGGTGAGCCAATTAAAAGCAGT
GACTACTTTGGAAATGGCCGGGTGACAGAATTCAAGTATGGTGCAAAACTCGGCACAGTT
ATTCGCAAGTGGAATGGAGAGAAGATGTCTTACCTAAAGAACTGGGGAGAAGGTTGGGGT
TTCATGCCTTCTGACAGAGCACTTGTCTTTGTGGATAACCATGACAATCAACGAGGACAT
GGGGCTGGAGGAGCCTCTATTCTTACCTTCTGGGATGCTAGGCTGTATAAAATGGCAGTT
GGATTTATGCTTGCTCATCCTTATGGTTTTACACGAGTAATGTCAAGCTACCGTTGGCCA
AGACAGTTTCAAAATGGAAACGATGTTAATGATTGGGTTGGGCCACCAAATAATAATGGA
GTAATTAAAGAAGTTACTATTAATCCAGACACTACTTGTGGCAATGACTGGGTCTGTGAA
CATCGATGGCGCCAAATAAGGAACATGGTTAATTTCCGCAATGTAGTGGATGGCCAGCCT
TTTACAAACTGGTATGATAATGGGAGCAACCAAGTGGCTTTTGGGAGAGGAAACAGAGGA
TTCATTGTTTTCAACAATGATGACTGGACATTTTCTTTAACTTTGCAAACTGGTCTTCCT
GCTGGCACATACTGTGATGTCATTTCTGGAGATAAAATTAATGGCAATTGCACAGGCATT
AAAATCTACGTTTCTGACGATGGCAAAGCTCATTTTTCTATTAGTAACTCTGCTGAGGAT
CCATTTATTGCAATTCATGCTGAATCTAAATTATAA

1. Tomita N, Horii A, Doi S, Yokouchi H, Shiosaki K, Higashiyama M, Matsuura N, Ogawa M, Mori T, Matsubara K: A novel type of human alpha-amylase produced in lung carcinoid tumor. Gene. 1989 Mar 15;76(1):11-8. [PubMed ]
2. Yokouchi H, Horii A, Emi M, Tomita N, Doi S, Ogawa M, Mori T, Matsubara K: Cloning and characterization of a third type of human alpha-amylase gene, AMY2B. Gene. 1990 Jun 15;90(2):281-6. [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 ]
5. Gumucio DL, Wiebauer K, Caldwell RM, Samuelson LC, Meisler MH: Concerted evolution of human amylase genes. Mol Cell Biol. 1988 Mar;8(3):1197-205. [PubMed ]
6. Groot PC, Bleeker MJ, Pronk JC, Arwert F, Mager WH, Planta RJ, Eriksson AW, Frants RR: Human pancreatic amylase is encoded by two different genes. Nucleic Acids Res. 1988 May 25;16(10):4724. [PubMed ]
7. Omichi K, Hase S: Identification of the characteristic amino-acid sequence for human alpha-amylase encoded by the AMY2B gene. Biochim Biophys Acta. 1993 Dec 8;1203(2):224-9. [PubMed ]

1. mGluR5

MVLLLILSVLLLKEDVRGSAQSSERRVVAHMPGDIIIGALFSVHHQPTVDKVHERKCGAV
REQYGIQRVEAMLHTLERINSDPTLLPNITLGCEIRDSCWHSAVALEQSIEFIRDSLISS
EEEEGLVRCVDGSSSSFRSKKPIVGVIGPGSSSVAIQVQNLLQLFNIPQIAYSATSMDLS
DKTLFKYFMRVVPSDAQQARAMVDIVKRYNWTYVSAVHTEGNYGESGMEAFKDMSAKEGI
CIAHSYKIYSNAGEQSFDKLLKKLTSHLPKARVVACFCEGMTVRGLLMAMRRLGLAGEFL
LLGSDGWADRYDVTDGYQREAVGGITIKLQSPDVKWFDDYYLKLRPETNHRNPWFQEFWQ
HRFQCRLEGFPQENSKYNKTCNSSLTLKTHHVQDSKMGFVINAIYSMAYGLHNMQMSLCP
GYAGLCDAMKPIDGRKLLESLMKTNFTGVSGDTILFDENGDSPGRYEIMNFKEMGKDYFD
YINVGSWDNGELKMDDDEVWSKKSNIIRSVCSEPCEKGQIKVIRKGEVSCCWTCTPCKEN
EYVFDEYTCKACQLGSWPTDDLTGCDLIPVQYLRWGDPEPIAAVVFACLGLLATLFVTVV
FIIYRDTPVVKSSSRELCYIILAGICLGYLCTFCLIAKPKQIYCYLQRIGIGLSPAMSYS
ALVTKTNRIARILAGSKKKICTKKPRFMSACAQLVIAFILICIQLGIIVALFIMEPPDIM
HDYPSIREVYLICNTTNLGVVTPLGYNGLLILSCTFYAFKTRNVPANFNEAKYIAFTMYT
TCIIWLAFVPIYFGSNYKIITMCFSVSLSATVALGCMFVPKVYIILAKPERNVRSAFTTS
TVVRMHVGDGKSSSAASRSSSLVNLWKRRGSSGETLRYKDRRLAQHKSEIECFTPKGSMG
NGGRATMSSSNGKSVTWAQNEKSSRGQHLWQRLSIHINKKENPNQTAVIKPFPKSTESRG
LGAGAGAGGSAGGVGATGGAGCAGAGPGGPESPDAGPKALYDVAEAEEHFPAPARPRSPS
PISTLSHRAGSASRTDDDVPSLHSEPVARSSSSQGSLMEQISSVVTRFTANISELNSMML
STAAPSPGVGAPLCSSYLIPKEIQLPTTMTTFAEIQPLPAIEVTGGAQPAAGAQAAGDAA
RESPAAGPEAAAAKPDLEELVALTPPSPFRDSVDSGSTTPNSPVSESALCIPSSPKYDTL
IIRDYTQSSSSL

• 7tm_3 (PF00003 )
• ANF_receptor (PF01094 )
• GluR_Homer-bdg (PF10606 )
• NCD3G (PF07562 )

• 1-20

• 580-602 617-637 649-667 694-714 738-759 773-795 802-827

ATGGTCCTTCTGTTGATCCTGTCAGTCTTACTTTTGAAAGAAGATGTCCGTGGGAGTGCA
CAGTCCAGTGAGAGGAGGGTGGTGGCTCACATGCCGGGTGACATCATTATTGGAGCTCTC
TTTTCTGTTCATCACCAGCCTACTGTGGACAAAGTTCATGAGAGGAAGTGTGGGGCGGTC
CGTGAACAGTATGGCATTCAGAGAGTGGAGGCCATGCTGCATACCCTGGAAAGGATCAAT
TCAGACCCCACACTCTTGCCCAACATCACACTGGGCTGTGAGATAAGGGACTCCTGCTGG
CATTCGGCTGTGGCCCTAGAGCAGAGCATTGAGTTCATAAGAGATTCCCTCATTTCTTCA
GAAGAGGAAGAAGGCTTGGTACGCTGTGTGGATGGCTCCTCCTCTTCCTTCCGCTCCAAG
AAGCCCATAGTAGGGGTCATTGGGCCTGGCTCCAGTTCTGTAGCCATTCAGGTCCAGAAT
TTGCTCCAGCTTTTCAACATACCTCAGATTGCTTACTCAGCAACCAGCATGGATCTGAGT
GACAAGACTCTGTTCAAATATTTCATGAGGGTTGTGCCTTCAGATGCTCAGCAGGCAAGG
GCCATGGTGGACATAGTGAAGAGGTACAACTGGACCTATGTATCAGCCGTGCACACAGAA
GGCAACTATGGAGAAAGTGGGATGGAAGCCTTCAAAGATATGTCAGCGAAGGAAGGGATT
TGCATCGCCCACTCTTACAAAATCTACAGTAATGCAGGGGAGCAGAGCTTTGATAAGCTG
CTGAAGAAGCTCACAAGTCACTTGCCCAAGGCCCGGGTGGTGGCCTGCTTCTGTGAGGGC
ATGACGGTGAGAGGTCTGCTGATGGCCATGAGGCGCCTGGGTCTAGCGGGAGAATTTCTG
CTTCTGGGCAGTGATGGCTGGGCTGACAGGTATGATGTGACAGATGGATATCAGCGAGAA
GCTGTTGGTGGCATCACAATCAAGCTCCAATCTCCCGATGTCAAGTGGTTTGATGATTAT
TATCTGAAGCTCCGGCCAGAAACAAACCACCGAAACCCTTGGTTTCAAGAATTTTGGCAG
CATCGTTTTCAGTGCCGACTGGAAGGGTTTCCACAGGAGAACAGCAAATACAACAAGACT
TGCAATAGTTCTCTGACTCTGAAAACACATCATGTTCAGGATTCCAAAATGGGATTTGTG
ATCAACGCCATCTATTCGATGGCCTATGGGCTCCACAACATGCAGATGTCCCTCTGCCCA
GGCTATGCAGGACTCTGTGATGCCATGAAGCCAATTGATGGACGGAAACTTTTGGAGTCC
CTGATGAAAACCAATTTTACTGGGGTTTCTGGAGATACGATCCTATTCGATGAGAATGGA
GACTCTCCAGGAAGGTATGAAATAATGAATTTCAAGGAAATGGGAAAAGATTACTTTGAT
TATATCAACGTTGGAAGTTGGGACAATGGAGAATTAAAAATGGATGATGATGAAGTATGG
TCCAAGAAAAGCAACATCATCAGATCTGTGTGCAGTGAACCATGTGAGAAAGGCCAGATC
AAGGTGATCCGAAAGGGAGAAGTCAGCTGTTGTTGGACCTGTACACCTTGTAAGGAGAAT
GAGTATGTCTTTGATGAGTACACATGCAAGGCATGCCAACTGGGGTCTTGGCCCACTGAT
GATCTCACAGGTTGTGACTTGATCCCAGTACAGTATCTTCGATGGGGTGACCCTGAACCC
ATTGCAGCTGTGGTGTTTGCCTGCCTTGGCCTCCTGGCCACCCTGTTTGTTACTGTAGTC
TTCATCATTTACCGTGATACACCAGTAGTCAAGTCCTCAAGCAGGGAACTCTGCTACATT
ATCCTTGCTGGCATCTGCCTGGGCTACTTATGTACCTTCTGCCTCATTGCGAAGCCCAAA
CAGATTTACTGCTACCTTCAGAGAATTGGCATTGGTCTCTCCCCAGCCATGAGCTACTCA
GCCCTTGTAACAAAGACCAACCGTATTGCAAGGATCCTGGCTGGCAGCAAGAAGAAGATC
TGTACCAAAAAGCCCAGATTCATGAGTGCCTGTGCCCAGCTAGTGATTGCTTTCATTCTC
ATATGCATCCAGTTGGGCATCATCGTTGCCCTCTTTATAATGGAGCCTCCTGACATAATG
CATGACTACCCAAGCATTCGAGAAGTCTACCTGATCTGTAACACCACCAACCTAGGAGTT
GTCACTCCACTTGGATACAATGGATTGTTGATTTTGAGCTGCACCTTCTATGCGTTCAAG
ACCAGAAATGTTCCAGCTAACTTCAACGAGGCCAAGTATATCGCCTTCACAATGTACACG
ACCTGCATTATATGGCTAGCTTTTGTGCCAATCTACTTTGGCAGCAACTACAAAATCATC
ACCATGTGTTTCTCGGTCAGCCTCAGTGCCACAGTGGCCCTAGGCTGCATGTTTGTGCCG
AAGGTGTACATCATCCTGGCCAAACCAGAGAGAAACGTGCGCAGCGCCTTCACCACATCT
ACCGTGGTGCGCATGCATGTAGGGGATGGCAAGTCATCCTCCGCAGCCAGCAGATCCAGC
AGCCTAGTCAACCTGTGGAAGAGAAGGGGCTCCTCTGGGGAAACCTTAAGGTACAAAGAC
AGGAGACTGGCCCAGCACAAGTCGGAAATAGAGTGTTTCACCCCCAAAGGGAGTATGGGG
AATGGTGGGAGAGCAACAATGAGCAGTTCCAATGGAAAATCCGTCACGTGGGCCCAGAAT
GAGAAGAGCAGCCGGGGGCAGCACCTGTGGCAGCGCCTGTCCATCCACATCAACAAGAAA
GAAAACCCCAACCAAACGGCCGTCATCAAGCCCTTCCCCAAGAGCACGGAGAGCCGTGGC
CTGGGCGCTGGCGCTGGCGCAGGCGGGAGCGCTGGGGGCGTGGGGGCCACGGGCGGTGCG
GGCTGCGCAGGCGCCGGCCCAGGCGGGCCCGAGTCCCCAGACGCCGGCCCCAAGGCGCTG
TATGATGTGGCCGAGGCTGAGGAGCACTTCCCGGCGCCCGCGCGGCCGCGCTCACCGTCG
CCCATCAGCACGCTGAGCCACCGCGCGGGCTCGGCCAGCCGCACGGACGACGATGTGCCG
TCGCTGCACTCGGAGCCTGTGGCGCGCAGCAGCTCCTCGCAGGGCTCCCTCATGGAGCAG
ATCAGCAGTGTGGTCACCCGCTTCACGGCCAACATCAGCGAGCTCAACTCCATGATGCTG
TCCACCGCGGCCCCCAGCCCCGGCGTCGGCGCCCCGCTCTGCTCGTCCTACCTGATCCCC
AAAGAGATCCAGTTGCCCACGACCATGACGACCTTTGCCGAAATCCAGCCTCTGCCGGCC
ATCGAAGTCACGGGAGGCGCGCAGCCCGCGGCAGGGGCGCAGGCGGCTGGGGACGCGGCC
CGGGAGAGCCCCGCGGCCGGTCCCGAGGCTGCGGCCGCCAAGCCAGACCTGGAGGAGCTG
GTGGCTCTCACCCCGCCGTCCCCCTTCAGAGACTCGGTGGACTCGGGGAGCACAACCCCC
AACTCGCCAGTGTCCGAGTCGGCCCTCTGTATCCCGTCGTCTCCCAAATATGACACTCTT
ATCATAAGAGATTACACTCAGAGCTCCTCGTCGTTGTGA

1. Minakami R, Katsuki F, Yamamoto T, Nakamura K, Sugiyama H: Molecular cloning and the functional expression of two isoforms of human metabotropic glutamate receptor subtype 5. Biochem Biophys Res Commun. 1994 Mar 30;199(3):1136-43. [PubMed ]
2. Minakami R, Katsuki F, Sugiyama H: A variant of metabotropic glutamate receptor subtype 5: an evolutionally conserved insertion with no termination codon. Biochem Biophys Res Commun. 1993 Jul 30;194(2):622-7. [PubMed ]

1. GABA(A) receptor subunit gamma-2

MSSPNIWSTGSSVYSTPVFSQKMTVWILLLLSLYPGFTSQKSDDDYEDYASNKTWVLTPK
VPEGDVTVILNNLLEGYDNKLRPDIGVKPTLIHTDMYVNSIGPVNAINMEYTIDIFFAQT
WYDRRLKFNSTIKVLRLNSNMVGKIWIPDTFFRNSKKADAHWITTPNRMLRIWNDGRVLY
TLRLTIDAECQLQLHNFPMDEHSCPLEFSSYGYPREEIVYQWKRSSVEVGDTRSWRLYQF
SFVGLRNTTEVVKTTSGDYVVMSVYFDLSRRMGYFTIQTYIPCTLIVVLSWVSFWINKDA
VPARTSLGITTVLTMTTLSTIARKSLPKVSYVTAMDLFVSVCFIFVFSALVEYGTLHYFV
SNRKPSKDKDKKKKNPAPTIDIRPRSATIQMNNATHLQERDEEYGYECLDGKDCASFFCC
FEDCRTGAWRHGRIHIRIAKMDSYARIFFPTAFCLFNLVYWVSYLYL

• Neur_chan_LBD (PF02931 )
• Neur_chan_memb (PF02932 )

• 1-39

• 274-296 300-322 334-356 444-466

ATGAGTTCACCAAATATATGGAGCACAGGAAGCTCAGTCTACTCGACTCCTGTATTTTCA
CAGAAAATGACGGTGTGGATTCTGCTCCTGCTGTCGCTCTACCCTGGCTTCACTAGCCAG
AAATCTGATGATGACTATGAAGATTATGCTTCTAACAAAACATGGGTCTTGACTCCAAAA
GTTCCTGAGGGTGATGTCACTGTCATCTTAAACAACCTGCTGGAAGGATATGACAATAAA
CTTCGGCCTGATATAGGAGTGAAGCCAACGTTAATTCACACAGACATGTATGTGAATAGC
ATTGGTCCAGTGAACGCTATCAATATGGAATACACTATTGATATATTTTTTGCGCAAATG
TGGTATGACAGACGTTTGAAATTTAACAGCACCATTAAAGTCCTCCGATTGAACAGCAAC
ATGGTGGGGAAAATCTGGATTCCAGACACTTTCTTCAGAAATTCCAAAAAAGCTGATGCA
CACTGGATCACCACCCCCAACAGGATGCTGAGAATTTGGAATGATGGTCGAGTGCTCTAC
TCCCTAAGGTTGACAATTGATGCTGAGTGCCAATTACAATTGCACAATTTTCCAATGGAT
GAACACTCCTGCCCCTTGGAGTTCTCCAGTTATGGCTATCCACGTGAAGAAATTGTTTAT
CAATGGAAGCGAAGTTCTGTTGAAGTGGGCGACACAAGATCCTGGAGGCTTTATCAATTC
TCATTTGTTGGTCTAAGAAATACCACCGAAGTAGTGAAGACAACTTCCGGAGATTATGTG
GTCATGTCTGTCTACTTTGATCTGAGCAGAAGAATGGGATACTTTACCATCCAGACCTAT
ATCCCCTGCACACTCATTGTCGTCCTATCCTGGGTGTCTTTCTGGATCAATAAGGATGCT
GTTCCAGCCAGAACATCTTTAGGTATCACCACTGTCCTGACAATGACCACCCTCAGCACC
ATTGCCCGGAAATCGCTCCCCAAGGTCTCCTATGTCACAGCGATGGATCTCTTTGTATCT
GTTTGTTTCATCTTTGTCTTCTCTGCTCTGGTGGAGTATGGCACCTTGCATTATTTTGTC
AGCAACCGGAAACCAAGCAAGGACAAAGATAAAAAGAAGAAAAACCCTGCCCCTACCATT
GATATCCGCCCAAGATCAGCAACCATTCAAATGAATAATGCTACACACCTTCAAGAGAGA
GATGAAGAGTACGGCTATGAGTGTCTGGACGGCAAGGACTGTGCCAGTTTTTTCTGCTGT
TTTGAAGATTGTCGAACAGGAGCTTGGAGACATGGGAGGATACATATCCGCATTGCCAAA
ATGGACTCCTATGCTCGGATCTTCTTCCCCACTGCCTTCTGCCTGTTTAATCTGGTCTAT
TGGGTCTCCTACCTCTACCTGTGA

1. Pritchett DB, Sontheimer H, Shivers BD, Ymer S, Kettenmann H, Schofield PR, Seeburg PH: Importance of a novel GABAA receptor subunit for benzodiazepine pharmacology. Nature. 1989 Apr 13;338(6216):582-5. [PubMed ]
2. Jiang S, Yu J, Wang J, Tan Z, Xue H, Feng G, He L, Yang H: Complete genomic sequence of 195 Kb of human DNA containing the gene GABRG2. DNA Seq. 2000;11(5):373-82. [PubMed ]
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. Khan ZU, Fernando LP, Escriba P, Busquets X, Mallet J, Miralles CP, Filla M, De Blas AL: Antibodies to the human gamma 2 subunit of the gamma-aminobutyric acidA/benzodiazepine receptor. J Neurochem. 1993 Mar;60(3):961-71. [PubMed ]
5. Wang H, Bedford FK, Brandon NJ, Moss SJ, Olsen RW: GABA(A)-receptor-associated protein links GABA(A) receptors and the cytoskeleton. Nature. 1999 Jan 7;397(6714):69-72. [PubMed ]
6. Baulac S, Huberfeld G, Gourfinkel-An I, Mitropoulou G, Beranger A, Prud'homme JF, Baulac M, Brice A, Bruzzone R, LeGuern E: First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Nat Genet. 2001 May;28(1):46-8. [PubMed ]
7. Wallace RH, Marini C, Petrou S, Harkin LA, Bowser DN, Panchal RG, Williams DA, Sutherland GR, Mulley JC, Scheffer IE, Berkovic SF: Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet. 2001 May;28(1):49-52. [PubMed ]
8. Audenaert D, Schwartz E, Claeys KG, Claes L, Deprez L, Suls A, Van Dyck T, Lagae L, Van Broeckhoven C, Macdonald RL, De Jonghe P: A novel GABRG2 mutation associated with febrile seizures. Neurology. 2006 Aug 22;67(4):687-90. [PubMed ]

1. Hemicholinium-3-sensitive choline transporter
2. CHT
3. Solute carrier family 5 member 7

MAFHVEGLIAIIVFYLLILLVGIWAAWRTKNSGSAEERSEAIIVGGRDIGLLVGGFTMTA
TWVGGGYINGTAEAVYVPGYGLAWAQAPIGYSLSLILGGLFFAKPMRSKGYVTMLDPFQQ
IYGKRMGGLLFIPALMGEMFWAAAIFSALGATISVIIDVDMHISVIISALIATLYTLVGG
LYSVAYTDVVQLFCIFVGLWISVPFALSHPAVADIGFTAVHAKYQKPWLGTVDSSEVYSW
LDSFLLLMLGGIPWQAYFQRVLSSSSATYAQVLSFLAAFGCLVMAIPAILIGAIGASTDW
NQTAYGLPDPKTTEEADMILPIVLQYLCPVYISFFGLGAVSAAVMSSADSSILSASSMFA
RNIYQLSFRQNASDKEIVWVMRITVFVFGASATAMALLTKTVYGLWYLSSDLVYIVIFPQ
LLCVLFVKGTNTYGAVAGYVSGLFLRITGGEPYLYLQPLIFYPGYYPDDNGIYNQKFPFK
TLAMVTSFLTNICISYLAKYLFESGTLPPKLDVFDAVVARHSEENMDKTILVKNENIKLD
ELALVKPRQSMTLSSTFTNKEAFLDVDSSPEGSGTEDNLQ

• SSF (PF00474 )

• None

• 7-27 49-69 82-102 126-146 165-185 192-212 238-258 275-295 318-338 377-397 407-427 436-456

ATGGCTTTCCATGTGGAAGGACTGATAGCTATCATCGTGTTCTACCTTCTAATTTTGCTG
GTTGGAATATGGGCTGCCTGGAGAACCAAAAACAGTGGCAGCGCAGAAGAGCGCAGCGAA
GCCATCATAGTTGGTGGCCGAGATATTGGTTTATTGGTTGGTGGATTTACCATGACAGCT
ACCTGGGTCGGAGGAGGGTATATCAATGGCACAGCTGAAGCAGTTTATGTACCAGGTTAT
GGCCTAGCTTGGGCTCAGGCACCAATTGGATATTCTCTTAGTCTGATTTTAGGTGGCCTG
TTCTTTGCAAAACCTATGCGTTCAAAGGGGTATGTGACCATGTTAGACCCGTTTCAGCAA
ATCTATGGAAAACGCATGGGCGGACTCCTGTTTATTCCTGCACTGATGGGAGAAATGTTC
TGGGCTGCAGCAATTTTCTCTGCTTTGGGAGCCACCATCAGCGTGATCATCGATGTGGAT
ATGCACATTTCTGTCATCATCTCTGCACTCATTGCCACTCTGTACACACTGGTGGGAGGG
CTCTATTCTGTGGCCTACACTGATGTCGTTCAGCTCTTTTGCATTTTTGTAGGGCTGTGG
ATCAGCGTCCCCTTTGCATTGTCACATCCTGCAGTCGCAGACATCGGGTTCACTGCTGTG
CATGCCAAATACCAAAAGCCGTGGCTGGGAACTGTTGACTCATCTGAAGTCTACTCTTGG
CTTGATAGTTTTCTGTTGTTGATGCTGGGTGGAATCCCATGGCAAGCATACTTTCAGAGG
GTTCTCTCTTCTTCCTCAGCCACCTATGCTCAAGTGCTGTCCTTCCTGGCAGCTTTCGGG
TGCCTGGTGATGGCCATCCCAGCCATACTCATTGGGGCCATTGGAGCATCAACAGACTGG
AACCAGACTGCATATGGGCTTCCAGATCCCAAGACTACAGAAGAGGCAGACATGATTTTA
CCAATTGTTCTGCAGTATCTCTGCCCTGTGTATATTTCTTTCTTTGGTCTTGGTGCAGTT
TCTGCTGCTGTTATGTCATCAGCAGATTCTTCCATCTTGTCAGCAAGTTCCATGTTTGCA
CGGAACATCTACCAGCTTTCCTTCAGACAAAATGCTTCGGACAAAGAAATCGTTTGGGTT
ATGCGAATCACAGTGTTTGTGTTTGGAGCATCTGCAACAGCCATGGCCTTGCTGACGAAA
ACTGTGTATGGGCTCTGGTACCTCAGTTCTGACCTTGTTTACATCGTTATCTTCCCCCAG
CTGCTTTGTGTACTCTTTGTTAAGGGAACCAACACCTATGGGGCCGTGGCAGGTTATGTT
TCTGGCCTCTTCCTGAGAATAACTGGAGGGGAGCCATATCTGTATCTTCAGCCCTTGATC
TTCTACCCTGGCTATTACCCTGATGATAATGGTATATATAATCAGAAATTTCCATTTAAA
ACACTTGCCATGGTTACATCATTCTTAACCAACATTTGCATCTCCTATCTAGCCAAGTAT
CTATTTGAAAGTGGAACCTTGCCACCTAAATTAGATGTATTTGATGCTGTTGTTGCAAGA
CACAGTGAAGAAAACATGGATAAGACAATTCTTGTCAAAAATGAAAATATTAAATTAGAT
GAACTTGCACTTGTGAAGCCACGACAGAGCATGACCCTCAGCTCAACTTTCACCAATAAA
GAGGCCTTCCTTGATGTTGATTCCAGTCCAGAAGGGTCTGGGACTGAAGATAATTTACAG
TGA

1. Apparsundaram S, Ferguson SM, George AL Jr, Blakely RD: Molecular cloning of a human, hemicholinium-3-sensitive choline transporter. Biochem Biophys Res Commun. 2000 Oct 5;276(3):862-7. [PubMed ]
2. Okuda T, Haga T: Functional characterization of the human high-affinity choline transporter. FEBS Lett. 2000 Nov 3;484(2):92-7. [PubMed ]
3. 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 ]
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. Okuda T, Okamura M, Kaitsuka C, Haga T, Gurwitz D: Single nucleotide polymorphism of the human high affinity choline transporter alters transport rate. J Biol Chem. 2002 Nov 22;277(47):45315-22. Epub 2002 Sep 16. [PubMed ]

1. Electroneutral potassium-chloride cotransporter 2
2. K-Cl cotransporter 2
3. hKCC2
4. Neuronal K-Cl cotransporter

MSRRFTVTSLPPAGPARSPDPESRRHSVADPRHLPGEDVKGDGNPKESSPFINSTDTEKG
KEYDGKNMALFEEEMDTSPMVSSLLSGLANYTNLPQGSREHEEAENNEGGKKKPVQAPRM
GTFMGVYLPCLQNIFGVILFLRLTWVVGIAGIMESFCMVFICCSCTMLTAISMSAIATNG
VVPAGGSYYMISRSLGPEFGGAVGLCFYLGTTFAGAMYILGTIEILLAYLFPAMAIFKAE
DASGEAAAMLNNMRVYGTCVLTCMATVVFVGVKYVNKFALVFLGCVILSILAIYAGVIKS
AFDPPNFPICLLGNRTLSRHGFDVCAKLAWEGNETVTTRLWGLFCSSRFLNATCDEYFTR
NNVTEIQGIPGAASGLIKENLWSSYLTKGVIVERSGMTSVGLADGTPIDMDHPYVFSDMT
SYFTLLVGIYFPSVTGIMAGSNRSGDLRDAQKSIPTGTILAIATTSAVYISSVVLFGACI
EGVVLRDKFGEAVNGNLVVGTLAWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAISRDG
IVPFLQVFGHGKANGEPTWALLLTACICEIGILIASLDEVAPILSMFFLMCYMFVNLACA
VQTLLRTPNWRPRFRYYHWTLSFLGMSLCLALMFICSWYYALVAMLIAGLIYKYIEYRGA
EKEWGDGIRGLSLSAARYALLRLEEGPPHTKNWRPQLLVLVRVDQDQNVVHPQLLSLTSQ
LKAGKGLTIVGSVLEGTFLENHPQAQRAEESIRRLMEAEKVKGFCQVVISSNLRDGVSHL
IQSGGLGGLQHNTVLVGWPRNWRQKEDHQTWRNFIELVRETTAGHLALLVTKNVSMFPGN
PERFSEGSIDVWWIVHDGGMLMLLPFLLRHHKVWRKCKMRIFTVAQMDDNSIQMKKDLTT
FLYHLRITAEVEVVEMHESDISAYTYEKTLVMEQRSQILKQMHLTKNEREREIQSITDES
RGSIRRKNPANTRLRLNVPEETAGDSEEKPEEEVQLIHDQSAPSCPSSSPSPGEEPEGEG
ETDPEKVHLTWTKDKSVAEKNKGPSPVSSEGIKDFFSMKPEWENLNQSNVRRMHTAVRLN
EVIVKKSRDAKLVLLNMPGPPRNRNGDENYMEFLEVLTEHLDRVMLVRGGGREVITIYS

• AA_permease (PF00324 )

• None

• 134-154 156-176 195-215 217-237 255-275 278-298 419-439 459-479 497-517 570-590 631-651 848-868

ATGAGCCGCAGGTTCACGGTCACCTCGCTGCCCCCCGCAGGGCCCGCCAGAAGCCCTGAC
CCAGAGTCCCGCCGGCATTCGGTCGCAGACCCCCGCCACCTCCCGGGGGAAGACGTCAAA
GGTGATGGCAACCCCAAGGAAAGCAGTCCCTTCATCAACAGCACCGACACAGAGAAGGGA
AAGGAGTATGATGGCAAGAACATGGCCTTGTTTGAGGAGGAGATGGACACCAGCCCTATG
GTGTCCTCCTTGCTCAGTGGCCTGGCCAACTACACCAACCTGCCCCAGGGAAGTAGGGAG
CATGAAGAGGCAGAAAACAATGAGGGTGGAAAAAAGAAGCCGGTGCAGGCCCCACGCATG
GGCACCTTCATGGGCGTGTACCTGCCGTGCCTGCAGAACATCTTTGGCGTCATCCTCTTC
CTGCGGCTCACCTGGGTGGTGGGCATTGCAGGCATCATGGAGTCCTTCTGCATGGTGTTC
ATCTGCTGCTCCTGTACGATGCTCACGGCCATCTCCATGAGTGCAATTGCAACGAATGGT
GTTGTGCCTGCTGGTGGCTCCTACTACATGATTTCCAGGTCTCTGGGCCCAGAGTTTGGG
GGTGCCGTGGGCCTCTGCTTCTACCTGGGCACTACCTTTGCAGGAGCCATGTACATCCTG
GGCACCATCGAAATCCTGCTGGCTTACCTCTTCCCAGCCATGGCCATCTTCAAGGCAGAA
GATGCCAGTGGGGAGGCAGCAGCCATGCTGAACAACATGCGTGTTTACGGCACCTGTGTG
CTCACCTGCATGGCCACTGTGGTGTTTGTGGGTGTCAAGTATGTCAACAAGTTTGCCCTT
GTCTTCCTGGGTTGTGTCATCCTCTCCATCCTGGCCATCTATGCTGGGGTCATCAAGTCT
GCCTTCGACCCACCCAACTTCCCGATCTGCCTCCTGGGTAACCGCACGCTGTCTCGCCAT
GGCTTTGATGTCTGTGCCAAGCTGGCTTGGGAAGGAAATGAGACGGTGACCACACGGCTA
TGGGGCCTTTTCTGCTCCTCTCGCTTCCTCAACGCCACCTGTGATGAATACTTCACCCGA
AACAATGTCACAGAGATCCAGGGCATCCCTGGTGCTGCCAGTGGCCTCATCAAAGAGAAC
CTCTGGAGCTCCTACCTGACCAAGGGCGTGATTGTGGAGAGGAGTGGGATGACCTCGGTG
GGCCTGGCCGATGGCACTCCTATCGACATGGACCACCCTTATGTCTTCAGTGATATGACC
TCCTACTTCACCCTGCTGGTTGGCATCTACTTCCCCTCAGTCACAGGGATCATGGCTGGT
TCTAACCGCTCTGGGGACCTGAGGGATGCCCAGAAGTCAATCCCCACTGGCACCATCCTG
GCCATCGCCACCACCTCTGCTGTCTACATCAGCTCCGTTGTTCTGTTTGGGGCCTGCATT
GAGGGGGTCGTCCTGCGGGACAAGTTTGGCGAAGCTGTGAATGGCAACCTCGTGGTGGGC
ACTCTGGCCTGGCCATCTCCATGGGTAATTGTCATCGGATCCTTCTTCTCCACCTGTGGG
GCTGGGCTGCAGAGCCTCACGGGGGCCCCACGCCTGCTGCAGGCCATCTCGAGGGATGGC
ATTGTGCCCTTCCTGCAGGTCTTTGGCCATGGCAAGGCCAATGGAGAGCCGACCTGGGCC
CTGCTCCTGACTGCCTGCATCTGCGAGATTGGCATCCTCATTGCATCCCTCGACGAGGTG
GCCCCCATCCTCTCTATGTTCTTCCTGATGTGCTACATGTTTGTGAATCTGGCCTGTGCA
GTGCAGACGCTGCTGAGGACACCCAACTGGAGGCCACGCTTTCGATATTACCACTGGACC
CTCTCCTTCCTGGGCATGAGCCTCTGCCTGGCCCTCATGTTCATCTGCTCCTGGTATTAT
GCACTGGTAGCCATGCTCATTGCTGGACTCATCTACAAGTACATTGAGTACCGTGGGGCA
GAGAAGGAGTGGGGCGATGGGATACGAGGTCTGTCTCTCAGTGCGGCTCGCTATGCCCTC
TTACGCCTGGAGGAAGGGCCCCCACACACCAAGAACTGGAGGCCACAGCTGCTGGTGCTG
GTGCGTGTGGACCAAGACCAGAATGTGGTGCACCCCCAGCTGCTCTCACTGACCTCCCAG
CTGAAGGCAGGGAAGGGCCTGACCATCGTGGGCTCTGTCCTTGAGGGCACCTTTCTGGAA
AATCATCCACAGGCCCAGCGGGCAGAAGAGTCTATCAGGCGCCTGATGGAGGCAGAGAAG
GTGAAGGGCTTCTGCCAGGTGGTGATCTCCTCCAACTTGCGTGATGGCGTGTCCCATCTG
ATCCAGTCCGGGGGCCTCGGGGGGCTGCAGCACAACACTGTGCTTGTTGGCTGGCCCCGC
AACTGGCGCCAGAAGGAAGATCATCAGACGTGGAGGAACTTCATTGAGCTGGTCCGGGAA
ACCACAGCTGGCCACTTAGCCCTGCTGGTCACCAAGAACGTTTCCATGTTTCCTGGGAAC
CCTGAGCGCTTCTCTGAGGGCAGCATCGACGTTTGGTGGATTGTGCACGATGGAGGCATG
CTCATGCTGCTGCCCTTCCTGCTGCGGCACCACAAGGTCTGGCGGAAGTGCAAGATGCGT
ATCTTCACTGTGGCCCAGATGGATGACAATAGCATCCAGATGAAGAAGGATCTGACCACA
TTTCTGTATCATTTACGCATCACTGCGGAGGTCGAGGTGGTGGAGATGCATGAGAGCGAC
ATCTCAGCTTACACCTATGAGAAGACGTTGGTGATGGAGCAGCGTTCCCAGATCCTCAAA
CAGATGCATTTAACCAAGAATGAGCGGGAGCGGGAGATCCAGAGTATCACAGATGAGTCA
CGAGGCTCAATCCGGAGAAAGAATCCAGCCAACACGCGGCTCCGCCTGAACGTCCCAGAA
GAGACGGCTGGTGACAGTGAAGAGAAGCCAGAGGAGGAGGTGCAGCTGATCCACGATCAG
AGTGCTCCCAGCTGCCCCAGCAGCTCCCCGTCCCCAGGGGAGGAGCCTGAGGGGGAAGGG
GAGACAGATCCGGAGAAGGTGCATCTCACCTGGACCAAGGACAAGTCGGTGGCAGAGAAG
AATAAGGGCCCCAGTCCTGTCTCCTCTGAGGGCATCAAGGACTTCTTCAGCATGAAGCCG
GAGTGGGAGAACTTGAACCAGTCCAACGTGCGGCGCATGCACACGGCCGTGCGGCTGAAC
GAGGTCATCGTGAAGAAATCCCGGGACGCCAAGCTTGTTTTGCTCAACATGCCTGGGCCT
CCCCGCAACCGCAATGGTGATGAAAACTACATGGAGTTTCTCGAGGTCCTCACAGAGCAC
CTGGACCGGGTGATGCTGGTCCGCGGCGGCGGCCGCGAGGTCATCACCATCTACTCCTGA

1. Song L, Mercado A, Vazquez N, Xie Q, Desai R, George AL Jr, Gamba G, Mount DB: Molecular, functional, and genomic characterization of human KCC2, the neuronal K-Cl cotransporter. Brain Res Mol Brain Res. 2002 Jun 30;103(1-2):91-105. [PubMed ]
2. Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M, Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE, Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C, Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A, Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA, Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S, Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K, Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A, Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM, Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ, Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE, Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C, Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L, Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA, Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S, Rogers J: The DNA sequence and comparative analysis of human chromosome 20. Nature. 2001 Dec 20-27;414(6866):865-71. [PubMed ]
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. Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S: Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Genome Res. 2006 Jan;16(1):55-65. Epub 2005 Dec 12. [PubMed ]
5. Hirosawa M, Nagase T, Ishikawa K, Kikuno R, Nomura N, Ohara O: Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. DNA Res. 1999 Oct 29;6(5):329-36. [PubMed ]
6. 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. IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1
2. KQT-like 1
3. Voltage-gated potassium channel subunit Kv7.1

MAAASSPPRAERKRWGWGRLPGARRGSAGLAKKCPFSLELAEGGPAGGALYAPIAPGAPG
PAPPASPAAPAAPPVASDLGPRPPVSLDPRVSIYSTRRPVLARTHVQGRVYNFLERPTGW
KCFVYHFAVFLIVLVCLIFSVLSTIEQYAALATGTLFWMEIVLVVFFGTEYVVRLWSAGC
RSKYVGLWGRLRFARKPISIIDLIVVVASMVVLCVGSKGQVFATSAIRGIRFLQILRMLH
VDRQGGTWRLLGSVVFIHRQELITTLYIGFLGLIFSSYFVYLAEKDAVNESGRVEFGSYA
DALWWGVVTVTTIGYGDKVPQTWVGKTIASCFSVFAISFFALPAGILGSGFALKVQQKQR
QKHFNRQIPAAASLIQTAWRCYAAENPDSSTWKIYIRKAPRSHTLLSPSPKPKKSVVVKK
KKFKLDKDNGVTPGEKMLTVPHITCDPPEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFM
RTNSFAEDLDLEGETLLTPITHISQLREHHRATIKVIRRMQYFVAKKKFQQARKPYDVRD
VIEQYSQGHLNLMVRIKELQRRLDQSIGKPSLFISVSEKSKDRGSNTIGARLNRVEDKVT
QLDQRLALITDMLHQLLSLHGGSTPGSGGPPREGGAHITQPCGSGGSVDPELFLPSNTLP
TYEQLTVPRRGPDEGS

• Ion_trans (PF00520 )
• KCNQ_channel (PF03520 )

• None

• 122-142 148-168 197-217 226-248 262-282 328-348

ATGGCCGCGGCCTCCTCCCCGCCCAGGGCCGAGAGGAAGCGCTGGGGTTGGGGCCGCCTG
CCAGGCGCCCGGCGGGGCAGCGCGGGCCTGGCCAAGAAGTGCCCCTTCTCGCTGGAGCTG
GCGGAGGGCGGCCCGGCGGGCGGCGCGCTCTACGCGCCCATCGCGCCCGGCGCCCCAGGT
CCCGCGCCCCCTGCGTCCCCGGCCGCGCCCGCCGCGCCCCCAGTTGCCTCCGACCTTGGC
CCGCGGCCGCCGGTGAGCCTAGACCCGCGCGTCTCCATTTACAGCACGCGCCGCCCGGTG
TTGGCGCGCACCCACGTCCAGGGCCGCGTCTACAACTTCCTCGAGCGTCCCACCGGCTGG
AAATGCTTCGTTTACCACTTCGCCGTCTTCCTCATCGTCCTGGTCTGCCTCATCTTCAGC
GTGCTGTCCACCATCGAGCAGTATGCCGCCCTGGCCACGGGGACTCTCTTCTGGATGGAG
ATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGC
CGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATC
ATCGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAG
GTGTTTGCCACGTCGGCCATCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACAC
GTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAG
GAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTG
TACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCA
GATGCGCTGTGGTGGGGGGTGGTCACAGTCACCACCATCGGCTATGGGGACAAGGTGCCC
CAGACGTGGGTCGGGAAGACCATCGCCTCCTGCTTCTCTGTCTTTGCCATCTCCTTCTTT
GCGCTCCCAGCGGGGATTCTTGGCTCGGGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGG
CAGAAGCACTTCAACCGGCAGATCCCGGCGGCAGCCTCACTCATTCAGACCGCATGGAGG
TGCTATGCTGCCGAGAACCCCGACTCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCC
CGGAGCCACACTCTGCTGTCACCCAGCCCCAAACCCAAGAAGTCTGTGGTGGTAAAGAAA
AAAAAGTTCAAGCTGGACAAAGACAATGGGGTGACTCCTGGAGAGAAGATGCTCACAGTC
CCCCATATCACGTGCGACCCCCCAGAAGAGCGGCGGCTGGACCACTTCTCTGTCGACGGC
TATGACAGTTCTGTAAGGAAGAGCCCAACACTGCTGGAAGTGAGCATGCCCCATTTCATG
AGAACCAACAGCTTCGCCGAGGACCTGGACCTGGAAGGGGAGACTCTGCTGACACCCATC
ACCCACATCTCACAGCTGCGGGAACACCATCGGGCCACCATTAAGGTCATTCGACGCATG
CAGTACTTTGTGGCCAAGAAGAAATTCCAGCAAGCGCGGAAGCCTTACGATGTGCGGGAC
GTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAG
AGGAGGCTGGACCAGTCCATTGGGAAGCCCTCACTGTTCATCTCCGTCTCAGAAAAGAGC
AAGGATCGCGGCAGCAACACGATCGGCGCCCGCCTGAACCGAGTAGAAGACAAGGTGACG
CAGCTGGACCAGAGGCTGGCACTCATCACCGACATGCTTCACCAGCTGCTCTCCTTGCAC
GGTGGCAGCACCCCCGGCAGCGGCGGCCCCCCCAGAGAGGGCGGGGCCCACATCACCCAG
CCCTGCGGCAGTGGCGGCTCCGTCGACCCTGAGCTCTTCCTGCCCAGCAACACCCTGCCC
ACCTACGAGCAGCTGACCGTGCCCAGGAGGGGCCCCGATGAGGGGTCCTGA

1. Chouabe C, Neyroud N, Guicheney P, Lazdunski M, Romey G, Barhanin J: Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. EMBO J. 1997 Sep 1;16(17):5472-9. [PubMed ]
2. Itoh T, Tanaka T, Nagai R, Kikuchi K, Ogawa S, Okada S, Yamagata S, Yano K, Yazaki Y, Nakamura Y: Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome. Hum Genet. 1998 Sep;103(3):290-4. [PubMed ]
3. Neyroud N, Richard P, Vignier N, Donger C, Denjoy I, Demay L, Shkolnikova M, Pesce R, Chevalier P, Hainque B, Coumel P, Schwartz K, Guicheney P: Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome. Circ Res. 1999 Feb 19;84(3):290-7. [PubMed ]
4. Yang WP, Levesque PC, Little WA, Conder ML, Shalaby FY, Blanar MA: KvLQT1, a voltage-gated potassium channel responsible for human cardiac arrhythmias. Proc Natl Acad Sci U S A. 1997 Apr 15;94(8):4017-21. [PubMed ]
5. Sanguinetti MC, Curran ME, Zou A, Shen J, Spector PS, Atkinson DL, Keating MT: Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel. Nature. 1996 Nov 7;384(6604):80-3. [PubMed ]
6. Wang Q, Curran ME, Splawski I, Burn TC, Millholland JM, VanRaay TJ, Shen J, Timothy KW, Vincent GM, de Jager T, Schwartz PJ, Toubin JA, Moss AJ, Atkinson DL, Landes GM, Connors TD, Keating MT: Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet. 1996 Jan;12(1):17-23. [PubMed ]
7. Jiang M, Tseng-Crank J, Tseng GN: Suppression of slow delayed rectifier current by a truncated isoform of KvLQT1 cloned from normal human heart. J Biol Chem. 1997 Sep 26;272(39):24109-12. [PubMed ]
8. Shalaby FY, Levesque PC, Yang WP, Little WA, Conder ML, Jenkins-West T, Blanar MA: Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome. Circulation. 1997 Sep 16;96(6):1733-6. [PubMed ]
9. Selyanko AA, Hadley JK, Wood IC, Abogadie FC, Jentsch TJ, Brown DA: Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M1 muscarinic acetylcholine receptors. J Physiol. 2000 Feb 1;522 Pt 3:349-55. [PubMed ]
10. Schmitt N, Schwarz M, Peretz A, Abitbol I, Attali B, Pongs O: A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly. EMBO J. 2000 Feb 1;19(3):332-40. [PubMed ]
11. Schroeder BC, Waldegger S, Fehr S, Bleich M, Warth R, Greger R, Jentsch TJ: A constitutively open potassium channel formed by KCNQ1 and KCNE3. Nature. 2000 Jan 13;403(6766):196-9. [PubMed ]
12. Wiener R, Haitin Y, Shamgar L, Fernandez-Alonso MC, Martos A, Chomsky-Hecht O, Rivas G, Attali B, Hirsch JA: The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction. J Biol Chem. 2008 Feb 29;283(9):5815-30. Epub 2007 Dec 29. [PubMed ]
13. Tranebjaerg L, Bathen J, Tyson J, Bitner-Glindzicz M: Jervell and Lange-Nielsen syndrome: a Norwegian perspective. Am J Med Genet. 1999 Sep 24;89(3):137-46. [PubMed ]
14. Russell MW, Dick M 2nd, Collins FS, Brody LC: KVLQT1 mutations in three families with familial or sporadic long QT syndrome. Hum Mol Genet. 1996 Sep;5(9):1319-24. [PubMed ]
15. de Jager T, Corbett CH, Badenhorst JC, Brink PA, Corfield VA: Evidence of a long QT founder gene with varying phenotypic expression in South African families. J Med Genet. 1996 Jul;33(7):567-73. [PubMed ]
16. Tanaka T, Nagai R, Tomoike H, Takata S, Yano K, Yabuta K, Haneda N, Nakano O, Shibata A, Sawayama T, Kasai H, Yazaki Y, Nakamura Y: Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. Circulation. 1997 Feb 4;95(3):565-7. [PubMed ]
17. Donger C, Denjoy I, Berthet M, Neyroud N, Cruaud C, Bennaceur M, Chivoret G, Schwartz K, Coumel P, Guicheney P: KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. Circulation. 1997 Nov 4;96(9):2778-81. [PubMed ]
18. van den Berg MH, Wilde AA, Robles de Medina EO, Meyer H, Geelen JL, Jongbloed RJ, Wellens HJ, Geraedts JP: The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene. Hum Genet. 1997 Sep;100(3-4):356-61. [PubMed ]
19. Wollnik B, Schroeder BC, Kubisch C, Esperer HD, Wieacker P, Jentsch TJ: Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias. Hum Mol Genet. 1997 Oct;6(11):1943-9. [PubMed ]
20. Li H, Chen Q, Moss AJ, Robinson J, Goytia V, Perry JC, Vincent GM, Priori SG, Lehmann MH, Denfield SW, Duff D, Kaine S, Shimizu W, Schwartz PJ, Wang Q, Towbin JA: New mutations in the KVLQT1 potassium channel that cause long-QT syndrome. Circulation. 1998 Apr 7;97(13):1264-9. [PubMed ]
21. Priori SG, Schwartz PJ, Napolitano C, Bianchi L, Dennis A, De Fusco M, Brown AM, Casari G: A recessive variant of the Romano-Ward long-QT syndrome? Circulation. 1998 Jun 23;97(24):2420-5. [PubMed ]
22. Neyroud N, Denjoy I, Donger C, Gary F, Villain E, Leenhardt A, Benali K, Schwartz K, Coumel P, Guicheney P: Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome. Eur J Hum Genet. 1998 Mar-Apr;6(2):129-33. [PubMed ]
23. Splawski I, Shen J, Timothy KW, Vincent GM, Lehmann MH, Keating MT: Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. Genomics. 1998 Jul 1;51(1):86-97. [PubMed ]
24. Saarinen K, Swan H, Kainulainen K, Toivonen L, Viitasalo M, Kontula K: Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred. Hum Mutat. 1998;11(2):158-65. [PubMed ]
25. Ackerman MJ, Schroeder JJ, Berry R, Schaid DJ, Porter CJ, Michels VV, Thibodeau SN: A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family. Pediatr Res. 1998 Aug;44(2):148-53. [PubMed ]
26. Mohammad-Panah R, Demolombe S, Neyroud N, Guicheney P, Kyndt F, van den Hoff M, Baro I, Escande D: Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias. Am J Hum Genet. 1999 Apr;64(4):1015-23. [PubMed ]
27. Denjoy I, Lupoglazoff JM, Donger C, Berthet M, Richard P, Neyroud N, Villain E, Lucet V, Coumel P, Guicheney P: [Congenital long QT syndrome. The value of genetics in prognostic evaluation] Arch Mal Coeur Vaiss. 1999 May;92(5):557-63. [PubMed ]
28. Priori SG, Napolitano C, Schwartz PJ: Low penetrance in the long-QT syndrome: clinical impact. Circulation. 1999 Feb 2;99(4):529-33. [PubMed ]
29. Larsen LA, Fosdal I, Andersen PS, Kanters JK, Vuust J, Wettrell G, Christiansen M: Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene. Eur J Hum Genet. 1999 Sep;7(6):724-8. [PubMed ]
30. Jongbloed RJ, Wilde AA, Geelen JL, Doevendans P, Schaap C, Van Langen I, van Tintelen JP, Cobben JM, Beaufort-Krol GC, Geraedts JP, Smeets HJ: Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. Hum Mutat. 1999;13(4):301-10. [PubMed ]
31. Larsen LA, Christiansen M, Vuust J, Andersen PS: High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants. Hum Mutat. 1999;13(4):318-27. [PubMed ]
32. Franqueza L, Lin M, Shen J, Splawski I, Keating MT, Sanguinetti MC: Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1 potassium channels modify gating and interaction with minK subunits. J Biol Chem. 1999 Jul 23;274(30):21063-70. [PubMed ]
33. Chouabe C, Neyroud N, Richard P, Denjoy I, Hainque B, Romey G, Drici MD, Guicheney P, Barhanin J: Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk. Cardiovasc Res. 2000 Mar;45(4):971-80. [PubMed ]
34. Splawski I, Shen J, Timothy KW, Lehmann MH, Priori S, Robinson JL, Moss AJ, Schwartz PJ, Towbin JA, Vincent GM, Keating MT: Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 Sep 5;102(10):1178-85. [PubMed ]
35. Chen YH, Xu SJ, Bendahhou S, Wang XL, Wang Y, Xu WY, Jin HW, Sun H, Su XY, Zhuang QN, Yang YQ, Li YB, Liu Y, Xu HJ, Li XF, Ma N, Mou CP, Chen Z, Barhanin J, Huang W: KCNQ1 gain-of-function mutation in familial atrial fibrillation. Science. 2003 Jan 10;299(5604):251-4. [PubMed ]
36. Bellocq C, van Ginneken AC, Bezzina CR, Alders M, Escande D, Mannens MM, Baro I, Wilde AA: Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. Circulation. 2004 May 25;109(20):2394-7. [PubMed ]

1. ClC-1
2. Chloride channel protein, skeletal muscle

MEQSRSQQRGGEQSWWGSDPQYQYMPFEHCTSYGLPSENGGLQHRLRKDAGPRHNVHPTQ
IYGHHKEQFSDREQDIGMPKKTGSSSTVDSKDEDHYSKCQDCIHRLGQVVRRKLGEDWIF
LVLLGLLMALVSWSMDYVSAKSLQAYKWSYAQMQPSLPLQFLVWVTFPLVLILFSALFCH
LISPQAVGSGIPEMKTILRGVVLKEYLTMKAFVAKVVALTAGLGSGIPVGKEGPFVHIAS
ICAAVLSKFMSVFCGVYEQPYYYSDILTVGCAVGVGCCFGTPLGGVLFSIEVTSTYFAVR
NYWRGFFAATFSAFVFRVLAVWNKDAVTITALFRTNFRMDFPFDLKELPAFAAIGICCGL
LGAVFVYLHRQVMLGVRKHKALSQFLAKHRLLYPGIVTFVIASFTFPPGMGQFMAGELMP
REAISTLFDNNTWVKHAGDPESLGQSAVWIHPRVNVVIIIFLFFVMKFWMSIVATTMPIP
CGGFMPVFVLGAAFGRLVGEIMAMLFPDGILFDDIIYKILPGGYAVIGAAALTGAVSHTV
STAVICFELTGQIAHILPMMVAVILANMVAQSLQPSLYDSIIQVKKLPYLPDLGWNQLSK
YTIFVEDIMVRDVKFVSASYTYGELRTLLQTTTVKTLPLVDSKDSMILLGSVERSELQAL
LQRHLCPERRLRAAQEMARKLSELPYDGKARLAGEGLPGAPPGRPESFAFVDEDEDEDLS
GKSELPPSLALHPSTTAPLSPEEPNGPLPGHKQQPEAPEPAGQRPSIFQSLLHCLLGRAR
PTKKKTTQDSTDLVDNMSPEEIEAWEQEQLSQPVCFDSCCIDQSPFQLVEQTTLHKTHTL
FSLLGLHLAYVTSMGKLRGVLALEELQKAIEGHTKSGVQLRPPLASFRNTTSTRKSTGAP
PSSAENWNLPEDRPGATGTGDVIAASPETPVPSPSPEPPLSLAPGKVEGELEELELVESP
GLEEELADILQGPSLRSTDEEDEDELIL

• CBS (PF00571 )
• Voltage_CLC (PF00654 )

• None

• 115-152 159-182 207-225 232-250 302-321 348-376 385-404 454-474 482-505 556-573

ATGGAGCAATCCCGGTCACAGCAGCGTGGGGGTGAACAAAGCTGGTGGGGTAGTGACCCC
CAGTACCAGTATATGCCCTTTGAACACTGCACCAGCTACGGACTGCCCTCTGAGAATGGG
GGCCTCCAGCACAGGCTCCGGAAGGATGCAGGCCCCCGCCACAACGTCCACCCCACACAG
ATTTATGGCCATCACAAAGAACAATTCTCAGACAGGGAGCAGGACATAGGGATGCCCAAG
AAGACAGGCTCCAGTTCTACCGTGGACAGCAAGGATGAGGATCACTATTCTAAATGTCAA
GATTGTATCCACCGCCTGGGACAGGTGGTGAGAAGAAAATTAGGGGAAGACTGGATCTTT
CTGGTGCTTCTGGGACTGCTGATGGCTCTGGTCAGCTGGAGCATGGACTACGTCAGTGCC
AAAAGCCTTCAGGCCTACAAGTGGTCCTACGCGCAGATGCAGCCCAGCCTTCCTCTGCAG
TTCCTGGTCTGGGTCACCTTCCCACTAGTCCTCATCCTCTTCAGCGCCCTCTTCTGCCAC
CTCATCTCTCCCCAGGCTGTTGGCTCTGGAATCCCCGAAATGAAGACAATACTTCGTGGG
GTTGTCCTGAAGGAATACCTCACAATGAAAGCCTTTGTGGCCAAGGTTGTCGCCCTGACT
GCGGGCCTGGGCAGTGGCATCCCCGTGGGGAAAGAGGGCCCCTTCGTCCACATTGCCAGC
ATCTGTGCTGCTGTCCTCAGCAAATTCATGTCTGTGTTCTGCGGGGTATATGAGCAGCCA
TACTACTACTCTGATATCCTGACGGTGGGCTGTGCTGTGGGAGTCGGCTGTTGTTTTGGG
ACACCACTTGGAGGAGTGCTATTTAGCATCGAGGTCACCTCCACCTACTTTGCTGTTCGG
AACTACTGGAGAGGATTCTTTGCAGCCACGTTCAGCGCCTTTGTGTTTCGAGTGCTGGCA
GTGTGGAACAAGGATGCTGTCACCATCACTGCTCTGTTCAGAACCAATTTCCGAATGGAT
TTCCCCTTTGACCTGAAGGAACTACCAGCTTTTGCTGCCATCGGGATTTGCTGTGGGCTC
CTGGGAGCTGTATTTGTGTATCTGCATCGCCAAGTCATGCTCGGTGTCCGAAAGCACAAG
GCCCTCAGCCAGTTTCTTGCTAAGCACCGCCTGCTGTATCCTGGAATTGTTACCTTTGTC
ATTGCCTCATTCACCTTCCCACCAGGAATGGGTCAATTCATGGCTGGAGAGTTGATGCCC
CGCGAAGCCATCAGTACTTTGTTTGACAACAATACATGGGTGAAACACGCGGGTGATCCT
GAGAGCCTGGGCCAGTCAGCTGTGTGGATTCACCCCCGGGTCAACGTTGTCATCATCATC
TTTCTCTTCTTCGTCATGAAGTTCTGGATGTCCATCGTGGCCACCACTATGCCCATACCC
TGCGGAGGCTTCATGCCTGTGTTTGTGCTAGGAGCTGCATTTGGAAGGCTGGTAGGAGAA
ATCATGGCCATGCTCTTTCCTGATGGTATTTTGTTTGATGACATCATCTACAAGATCCTA
CCTGGGGGCTATGCAGTAATTGGAGCAGCAGCGCTGACTGGTGCCGTTTCCCACACAGTC
TCCACAGCTGTGATTTGCTTCGAATTAACGGGTCAGATTGCTCACATCCTGCCCATGATG
GTGGCTGTTATCTTGGCCAACATGGTGGCCCAGAGCCTGCAGCCCTCTCTCTATGACAGC
ATCATCCAGGTCAAGAAGCTACCCTACTTGCCTGACCTTGGCTGGAACCAGCTCAGCAAA
TATACCATCTTTGTTGAGGACATCATGGTACGTGATGTGAAGTTTGTTTCAGCTTCTTAC
ACATATGGGGAGTTGCGAACCCTGCTCCAGACCACCACAGTCAAGACTTTACCACTGGTT
GACTCAAAAGATTCAATGATCCTGCTGGGCTCGGTGGAGCGGTCGGAACTGCAGGCCCTC
CTGCAGCGCCACCTGTGTCCTGAGCGCAGGCTGCGCGCAGCCCAAGAGATGGCGCGGAAG
TTGTCGGAGCTGCCTTACGACGGGAAGGCGCGGCTGGCTGGGGAGGGGCCCCCCGGCGCG
CCTCCAGGCCGGCCCGAGTCCTTCGCCTTTGTGGATGAGGATGAGGACGAAGATCTCTCT
GGCAAGAGCGAGCTTCCTCCTTCCCTTGCTCTCCACCCCTCTACTACTGCCCCTCTGTCC
CCAGAAGAGCCCAATGGGCCTCTGCCTGGCCACAAACAGCAGCCGGAAGCACCAGAGCCT
GCAGGTCAAAGACCCTCCATCTTCCAGTCCCTGCTTCACTGCTTGCTGGGCAGAGCTCGC
CCCACAAAGAAGAAAACAACCCAGGATTCCACAGATTTAGTGGATAACATGTCACCTGAA
GAGATTGAGGCCTGGGAGCAGGAGCAGCTGAGCCAGCCTGTCTGTTTTGATTCCTGCTGT
ATTGACCAGTCTCCCTTCCAGCTGGTGGAGCAGACAACCCTGCACAAGACTCATACCCTG
TTTTCACTCCTTGGCCTCCACCTCGCTTACGTGACCAGCATGGGGAAGCTCAGGGGCGTC
CTGGCCCTGGAGGAGCTACAGAAGGCCATTGAGGGGCACACCAAGTCTGGGGTGCAGCTC
CGCCCTCCCCTTGCCAGCTTCCGGAACACGACTTCAACTCGAAAGAGTACCGGGGCACCT
CCATCTTCTGCAGAGAACTGGAACCTGCCTGAGGACAGGCCTGGGGCCACTGGAACAGGG
GATGTGATTGCTGCCTCCCCAGAGACCCCTGTGCCATCTCCTTCCCCAGAGCCCCCTCTC
TCCCTGGCCCCAGGCAAGGTAGAGGGCGAGTTGGAGGAGCTGGAGCTGGTGGAGAGTCCA
GGGCTGGAAGAGGAGCTGGCCGACATCTTGCAGGGCCCCAGCCTGCGATCCACAGACGAG
GAGGATGAGGATGAACTGATCCTTTGA

1. Steinmeyer K, Lorenz C, Pusch M, Koch MC, Jentsch TJ: Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen). EMBO J. 1994 Feb 15;13(4):737-43. [PubMed ]
2. 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 ]
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. Koch MC, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, Zoll B, Lehmann-Horn F, Grzeschik KH, Jentsch TJ: The skeletal muscle chloride channel in dominant and recessive human myotonia. Science. 1992 Aug 7;257(5071):797-800. [PubMed ]
5. George AL Jr, Crackower MA, Abdalla JA, Hudson AJ, Ebers GC: Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). Nat Genet. 1993 Apr;3(4):305-10. [PubMed ]
6. Lorenz C, Meyer-Kleine C, Steinmeyer K, Koch MC, Jentsch TJ: Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia. Hum Mol Genet. 1994 Jun;3(6):941-6. [PubMed ]
7. Heine R, George AL Jr, Pika U, Deymeer F, Rudel R, Lehmann-Horn F: Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion. Hum Mol Genet. 1994 Jul;3(7):1123-8. [PubMed ]
8. George AL Jr, Sloan-Brown K, Fenichel GM, Mitchell GA, Spiegel R, Pascuzzi RM: Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. Hum Mol Genet. 1994 Nov;3(11):2071-2. [PubMed ]
9. Meyer-Kleine C, Steinmeyer K, Ricker K, Jentsch TJ, Koch MC: Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. Am J Hum Genet. 1995 Dec;57(6):1325-34. [PubMed ]
10. Lehmann-Horn F, Mailander V, Heine R, George AL: Myotonia levior is a chloride channel disorder. Hum Mol Genet. 1995 Aug;4(8):1397-402. [PubMed ]
11. Mailander V, Heine R, Deymeer F, Lehmann-Horn F: Novel muscle chloride channel mutations and their effects on heterozygous carriers. Am J Hum Genet. 1996 Feb;58(2):317-24. [PubMed ]
12. Kubisch C, Schmidt-Rose T, Fontaine B, Bretag AH, Jentsch TJ: ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence. Hum Mol Genet. 1998 Oct;7(11):1753-60. [PubMed ]
13. Sangiuolo F, Botta A, Mesoraca A, Servidei S, Merlini L, Fratta G, Novelli G, Dallapiccola B: Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online. Hum Mutat. 1998;11(4):331. [PubMed ]
14. Plassart-Schiess E, Gervais A, Eymard B, Lagueny A, Pouget J, Warter JM, Fardeau M, Jentsch TJ, Fontaine B: Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance. Neurology. 1998 Apr;50(4):1176-9. [PubMed ]
15. 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. Brain cyclic nucleotide-gated channel 2
2. BCNG-2

MDARGGGGRPGESPGATPAPGPPPPPPPAPPQQQPPPPPPPAPPPGPGPAPPQHPPRAEA
LPPEAADEGGPRGRLRSRDSSCGRPGTPGAASTAKGSPNGECGRGEPQCSPAGPEGPARG
PKVSFSCRGAASGPAPGPGPAEEAGSEEAGPAGEPRGSQASFMQRQFGALLQPGVNKFSL
RMFGSQKAVEREQERVKSAGAWIIHPYSDFRFYWDFTMLLFMVGNLIIIPVGITFFKDET
TAPWIVFNVVSDTFFLMDLVLNFRTGIVIEDNTEIILDPEKIKKKYLRTWFVVDFVSSIP
VDYIFLIVEKGIDSEVYKTARALRIVRFTKILSLLRLLRLSRLIRYIHQWEEIFHMTYDL
ASAVMRICNLISMMLLLCHWDGCLQFLVPMLQDFPRNCWVSINGMVNHSWSELYSFALFK
AMSHMLCIGYGRQAPESMTDIWLTMLSMIVGATCYAMFIGHATALIQSLDSSRRQYQEKY
KQVEQYMSFHKLPADFRQKIHDYYEHRYQGKMFDEDSILGELNGPLREEIVNFNCRKLVA
SMPLFANADPNFVTAMLTKLKFEVFQPGDYIIREGTIGKKMYFIQHGVVSVLTKGNKEMK
LSDGSYFGEICLLTRGRRTASVRADTYCRLYSLSVDNFNEVLEEYPMMRRAFETVAIDRL
DRIGKKNSILLHKVQHDLNSGVFNNQENAIIQEIVKYDREMVQQAELGQRVGLFPPPPPP
PQVTSAIATLQQAAAMSFCPQVARPLVGPLALGSPRLVRRPPPGPAPAAASPGPPPPASP
PGAPASPRAPRTSPYGGLPAAPLAGPALPARRLSRASRPLSASQPSLPHGAPGPAASTRP
ASSSTPRLGPTPAARAAAPSPDRRDSASPGAAGGLDPQDSARSRLSSNL

• cNMP_binding (PF00027 )
• Ion_trans (PF00520 )
• Ion_trans_N (PF08412 )

• None

• 216-236 241-261 289-309 318-338 370-390 441-461

ATGGACGCGCGCGGGGGCGGCGGGCGGCCCGGGGAGAGCCCGGGCGCGAGCCCCACGACC
GGGCCGCCGCCGCCGCCGCCCCCGCGCCCCCCCAAACAGCAGCCGCCGCCGCCGCCGCCG
CCCGCGCCCCCCCCGGGCCCCGGGCCCGCGCCCCCCCAGCACCCGCCCCGGGCCGAGGCG
TTGCCCCCGGAGGCGGCGGATGAGGGCGGCCCGCGGGGCCGGCTCCGCAGCCGCGACAGC
TCGTGCGGCCGCCCCGGCACCCCGGGCGCGGCGAGCACGGCCAAGGGCAGCCCGAACGGC
GAGTGCGGGCGCGGCGAGCCGCAGTGCAGCCCCGCGGGGCCCGAGGGCCCGGCGCGGGGG
CCCAAGGTGTCGTTCTCGTGCCGCGGGGCGGCCTCGGGGCCCGCGCCGGGGCCGGGGCCG
GCGGAGGAGGCGGGCAGCGAGGAGGCGGGCCCGGCGGGGGAGCCGCGCGGCAGCCAGGCC
AGCTTCATGCAGCGCCAGTTCGGCGCGCTCCTGCAGCCGGGCGTCAACAAGTTCTCGCTG
CGGATGTTCGGCAGCCAGAAGGCCGTGGAGCGCGAGCAGGAGCGCGTCAAGTCGGCGGGG
GCCTGGATCATCCACCCGTACAGCGACTTCAGGTTCTACTGGGACTTCACCATGCTGCTG
TTCATGGTGGGAAACCTCATCATCATCCCAGTGGGCATCACCTTCTTCAAGGATGAGACC
ACTGCCCCGTGGATCGTGTTCAACGTGGTCTCGGACACCTTCTTCCTCATGGACCTGGTG
TTGAACTTCCGCACCGGCATTGTGATCGAGGACAACACGGAGATCATCCTGGACCCCGAG
AAGATCAAGAAGAAGTATCTGCGCACGTGGTTCGTGGTGGACTTCGTGTCCTCCATCCCC
GTGGACTACATCTTCCTTATCGTGGAGAAGGGCATTGACTCCGAGGTCTACAAGACGGCA
CGCGCCCTGCGCATCGTGCGCTTCACCAAGATCCTCAGCCTCCTGCGGCTGCTGCGCCTC
TCACGCCTGATCCGCTACATCCATCAGTGGGAGGAGATCTTCCACATGACCTATGACCTG
GCCAGCGCGGTGATGAGGATCTGCAATCTCATCAGCATGATGCTGCTGCTCTGCCACTGG
GACGGCTGCCTGCAGTTCCTGGTGCCTATGCTGCAGGACTTCCCGCGCAACTGCTGGGTG
TCCATCAATGGCATGGTGAACCACTCGTGGAGTGAACTGTACTCCTTCGCACTCTTCAAG
GCCATGAGCCACATGCTGTGCATCGGGTACGGCCGGCAGGCGCCCGAGAGCATGACGGAC
ATCTGGCTGACCATGCTCAGCATGATTGTGGGTGCCACCTGCTACGCCATGTTCATCGGC
CACGCCACTGCCCTCATCCAGTCGCTGGACTCCTCGCGGCGCCAGTACCAGGAGAAGTAC
AAGCAGGTGGAGCAGTACATGTCCTTCCACAAGCTGCCAGCTGACTTCCGCCAGAAGATC
CACGACTACTATGAGCACCGTTACCAGGGCAAGATGTTTGACGAGGACAGCATCCTGGGC
GAGCTCAACGGGCCCCTGCGGGAGGAGATCGTCAACTTCAACTGCCGGAAGCTGGTGGCC
TCCATGCCGCTGTTCGCCAACGCCGACCCCAACTTCGTCACGGCCATGCTGACCAAGCTC
AAGTTCGAGGTCTTCCAGCCGGGTGACTACATCATCCGCGAAGGCACCATCGGGAAGAAG
ATGTACTTCATCCAGCACGGCGTGGTCAGCGTGCTCACTAAGGGCAACAAGGAGATGAAG
CTGTCCGATGGCTCCTACTTCGGGGAGATCTGCCTGCTCACCCGGGGCCGCCGCACGGCG
AGCGTGCGGGCTGACACCTACTGCCGCCTCTATTCGCTGAGCGTGGACAACTTCAACGAG
GTGCTGGAGGAGTACCCCATGATGCGGCGCGCCTTCGAGACGGTGGCCATCGACCGCCTG
GACCGCATCGGCAAGAAGAATTCCATCCTCCTGCACAAGGTGCAGCATGACCTCAACTCG
GGCGTATTCAACAACCAGGAGAACGCCATCATCCAGGAGATCGTCAAGTACGACCGCGAG
ATGGTGCAGCAGGCCGAGCTGGGTCAGCGCGTGGGCCTCTTCCCGCCGCCGCCGCCGCCG
CCGCAGGTCACCTCGGCCATCGCCACGCTGCAGCAGGCGGCGGCCATGAGCTTCTGCCCG
CAGGTGGCGCGGCCGCTCGTGGGGCCGCTGGCGCTCGGCTCGCCGCGCCTCGTGCGCCGC
CCGCCCCCGGGGCCCGCACCTGCCGCCGCCTCACCCGGGCCCCCGCCCCCCGCCAGCCCC
CCGGGCGCGCCCGCCAGCCCCCGGGCACCGCGGACCTCGCCCTACGGCGGCCTGCCCGCC
GCCCCCCTTGCTGGGCCCGCCCTGCCCGCGCGCCGCCTGAGCCGCGCGTCGCGCCCACTG
TCCGCCTCGCAGCCCTCGCTGCCTCACGGCGCCCCCGGCCCCGCGGCCTCCACACGCCCG
GCCAGCAGCTCCACACCGCGCTTGGGGCCCACGCCCGCTGCCCGGGCCGCCGCGCCCAGC
CCGGACCGCAGGGACTCGGCCTCACCCGGCGCCGCCGGCGGCCTGGACCCCCAGGACTCC
GCGCGCTCGCGCCTCTCGTCCAACTTGTGA

1. Vaccari T, Moroni A, Rocchi M, Gorza L, Bianchi ME, Beltrame M, DiFrancesco D: The human gene coding for HCN2, a pacemaker channel of the heart. Biochim Biophys Acta. 1999 Sep 3;1446(3):419-25. [PubMed ]
2. Ludwig A, Zong X, Stieber J, Hullin R, Hofmann F, Biel M: Two pacemaker channels from human heart with profoundly different activation kinetics. EMBO J. 1999 May 4;18(9):2323-9. [PubMed ]
3. Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J, Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel S, Carrano A, Caoile C, Chan YM, Christensen M, Cleland CA, Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M, Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V, Leem SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S, Pollard M, Popkie AP, Predki P, Quan G, Ramirez L, Rash S, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D, Slezak T, Solovyev V, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS, DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM, Lucas SM: The DNA sequence and biology of human chromosome 19. Nature. 2004 Apr 1;428(6982):529-35. [PubMed ]
4. Santoro B, Liu DT, Yao H, Bartsch D, Kandel ER, Siegelbaum SA, Tibbs GR: Identification of a gene encoding a hyperpolarization-activated pacemaker channel of brain. Cell. 1998 May 29;93(5):717-29. [PubMed ]

1. hENT4
2. Plasma membrane monoamine transporter
3. Solute carrier family 29 member 4

MGSVGSQRLEEPSVAGTPDPGVVMSFTFDSHQLEEAAEAAQGQGLRARGVPAFTDTTLDE
PVPDDRYHAIYFAMLLAGVGFLLPYNSFITDVDYLHHKYPGTSIVFDMSLTYILVALAAV
LLNNVLVERLTLHTRITAGYLLALGPLLFISICDVWLQLFSRDQAYAINLAAVGTVAFGC
TVQQSSFYGYTGMLPKRYTQGVMTGESTAGVMISLSRILTKLLLPDERASTLIFFLVSVA
LELLCFLLHLLVRRSRFVLFYTTRPRDSHRGRPGLGRGYGYRVHHDVVAGDVHFEHPAPA
LAPNESPKDSPAHEVTGSGGAYMRFDVPRPRVQRSWPTFRALLLHRYVVARVIWADMLSI
AVTYFITLCLFPGLESEIRHCILGEWLPILIMAVFNLSDFVGKILAALPVDWRGTHLLAC
SCLRVVFIPLFILCVYPSGMPALRHPAWPCIFSLLMGISNGYFGSVPMILAAGKVSPKQR
ELAGNTMTVSYMSGLTLGSAVAYCTYSLTRDAHGSCLHASTANGSILAGL

• Nucleoside_tran (PF01733 )

• None

• 69-89 102-122 140-160 167-187 232-252 352-372 382-402 417-437 451-471 487-509

ATGGGCTCCGTGGGGAGCCAGCGCCTTGAGGAGCCCAGCGTGGCAGGCACACCAGACCCG
GGCGTAGTGATGAGCTTCACCTTCGACAGTCACCAGCTGGAGGAGGCGGCGGAGGCGGCT
CAGGGCCAGGGCCTTAGGGCCAGGGGCGTCCCAGCTTTCACGGATACTACATTGGACGAG
CCAGTGCCCGATGACCGTTATCACGCCATCTACTTTGCGATGCTGCTGGCTGGCGTGGGC
TTCCTGCTGCCATACAACAGCTTCATCACGGACGTGGACTACCTGCATCACAAGTACCCA
GGGACCTCCATCGTGTTTGACATGAGCCTCACCTACATCTTGGTGGCACTGGCAGCTGTC
CTCCTGAACAACGTCCTGGTGGAGAGACTGACCCTGCACACCAGGATCACCGCAGGCTAC
CTCTTAGCCTTGGGCCCTCTCCTTTTTATCAGCATCTGCGACGTGTGGCTGCAGCTCTTC
TCTCGGGACCAGGCCTACGCCATCAACCTGGCCGCTGTGGGCACCGTGGCCTTCGGCTGC
ACAGTGCAGCAATCCAGCTTCTACGGGTACACGGGGATGCTGCCCAAGCGGTACACGCAG
GGGGTGATGACCGGGGAGAGCACGGCGGGCGTGATGATCTCTCTGAGCCGCATCCTCACG
AAGCTGCTGCTGCCCGACGAGCGCGCCAGCACGCTCATCTTCTTCCTGGTGTCGGTGGCG
CTGGAGCTGCTGTGTTTCCTGCTGCACCTGTTAGTGCGGCGCAGCCGCTTCGTGCTCTTC
TATACCACACGGCCGCGTGACAGCCACCGGGGCAGGCCAGGCCTGGGCAGGGGCTATGGC
TACCGCGTGCACCACGACGTTGTCGCCGGGGACGTCCACTTCGAGCACCCAGCCCCGGCC
CTGGCCCCCAACGAGTCCCCAAAGGACAGCCCAGCCCACGAGGTGACCGGCAGCGGCGGG
GCCTACATGCGCTTTGATGTGCCGCGGCCAAGGGTCCAGCGCAGCTGGCCCACCTTCAGA
GCCCTGTTACTGCACCGCTACGTGGTGGCGCGGGTGATCTGGGCCGACATGCTCTCCATC
GCCGTGACCTACTTCATCACGCTGTGCCTGTTCCCCGGCCTCGAGTCTGAGATCCGCCAC
TGCATCCTGGGCGAGTGGCTGCCCATCCTCATCATGGCTGTGTTCAACCTGTCAGACTTC
GTGGGCAAGATCCTGGCAGCCCTGCCCGTGGACTGGCGGGGCACCCACCTGCTGGCCTGC
TCCTGCCTGCGTGTGGTCTTCATCCCCCTCTTCATCCTGTGCGTCTACCCCAGCGGCATG
CCCGCCCTCCGTCACCCCGCCTGGCCCTGCATCTTCTCACTGCTCATGGGCATCAGCAAC
GGCTACTTCGGCAGCGTGCCCATGATCCTGGCGGCAGGCAAAGTGAGCCCCAAGCAGCGG
GAGCTGGCAGGGAACACCATGACCGTGTCCTACATGTCAGGGCTGACGCTGGGGTCCGCC
GTGGCCTACTGCACCTACAGCCTCACCCGCGACGCTCACGGCAGCTGCCTGCACGCCTCC
ACCGCCAATGGTTCCATCCTCGCAGGCCTCTGA

1. Engel K, Zhou M, Wang J: Identification and characterization of a novel monoamine transporter in the human brain. J Biol Chem. 2004 Nov 26;279(48):50042-9. Epub 2004 Sep 23. [PubMed ]
2. 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 ]
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. Acimovic Y, Coe IR: Molecular evolution of the equilibrative nucleoside transporter family: identification of novel family members in prokaryotes and eukaryotes. Mol Biol Evol. 2002 Dec;19(12):2199-210. [PubMed ]
5. Barnes K, Dobrzynski H, Foppolo S, Beal PR, Ismat F, Scullion ER, Sun L, Tellez J, Ritzel MW, Claycomb WC, Cass CE, Young JD, Billeter-Clark R, Boyett MR, Baldwin SA: Distribution and functional characterization of equilibrative nucleoside transporter-4, a novel cardiac adenosine transporter activated at acidic pH. Circ Res. 2006 Sep 1;99(5):510-9. Epub 2006 Jul 27. [PubMed ]
6. Xia L, Engel K, Zhou M, Wang J: Membrane localization and pH-dependent transport of a newly cloned organic cation transporter (PMAT) in kidney cells. Am J Physiol Renal Physiol. 2007 Feb;292(2):F682-90. Epub 2006 Oct 3. [PubMed ]
7. Zhou M, Xia L, Engel K, Wang J: Molecular determinants of substrate selectivity of a novel organic cation transporter (PMAT) in the SLC29 family. J Biol Chem. 2007 Feb 2;282(5):3188-95. Epub 2006 Nov 22. [PubMed ]
8. Bottalico B, Noskova V, Pilka R, Larsson I, Domanski H, Casslen B, Hansson SR: The organic cation transporters (OCT1, OCT2, EMT) and the plasma membrane monoamine transporter (PMAT) show differential distribution and cyclic expression pattern in human endometrium and early pregnancy decidua. Mol Reprod Dev. 2007 Oct;74(10):1303-11. [PubMed ]

1. Basolateral Na-K-Cl symporter
2. Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1

MEPRPTAPSSGAPGLAGVGETPSAAALAAARVELPGTAVPSVPEDAAPASRDGGGVRDEG
PAAAGDGLGRPLGPTPSQSRFQVDLVSENAGRAAAAAAAAAAAAAAAGAGAGAKQTPADG
EASGESEPAKGSEEAKGRFRVNFVDPAASSSAEDSLSDAAGVGVDGPNVSFQNGGDTVLS
EGSSLHSGGGGGSGHHQHYYYDTHTNTYYLRTFGHNTMDAVPRIDHYRHTAAQLGEKLLR
PSLAELHDELEKEPFEDGFANGEESTPTRDAVVTYTAESKGVVKFGWIKGVLVRCMLNIW
GVMLFIRLSWIVGQAGIGLSVLVIMMATVVTTITGLSTSAIATNGFVRGGGAYYLISRSL
GPEFGGAIGLIFAFANAVAVAMYVVGFAETVVELLKEHSILMIDEINDIRIIGAITVVIL
LGISVAGMEWEAKAQIVLLVILLLAIGDFVIGTFIPLESKKPKGFFGYKSEIFNENFGPD
FREEETFFSVFAIFFPAATGILAGANISGDLADPQSAIPKGTLLAILITTLVYVGIAVSV
GSCVVRDATGNVNDTIVTELTNCTSAACKLNFDFSSCESSPCSYGLMNNFQVMSMVSGFT
PLISAGIFSATLSSALASLVSAPKIFQALCKDNIYPAFQMFAKGYGKNNEPLRGYILTFL
IALGFILIAELNVIAPIISNFFLASYALINFSVFHASLAKSPGWRPAFKYYNMWISLLGA
ILCCIVMFVINWWAALLTYVIVLGLYIYVTYKKPDVNWGSSTQALTYLNALQHSIRLSGV
EDHVKNFRPQCLVMTGAPNSRPALLHLVHDFTKNVGLMICGHVHMGPRRQAMKEMSIDQA
KYQRWLIKNKMKAFYAPVHADDLREGAQYLMQAAGLGRMKPNTLVLGFKKDWLQADMRDV
DMYINLFHDAFDIQYGVVVIRLKEGLDISHLQGQEELLSSQEKSPGTKDVVVSVEYSKKS
DLDTSKPLSEKPITHKVEEEDGKTATQPLLKKESKGPIVPLNVADQKLLEASTQFQKKQG
KNTIDVWWLFDDGGLTLLIPYLLTTKKKWKDCKIRVFIGGKINRIDHDRRAMATLLSKFR
IDFSDIMVLGDINTKPKKENIIAFEEIIEPYRLHEDDKEQDIADKMKEDEPWRITDNELE
LYKTKTYRQIRLNELLKEHSSTANIIVMSLPVARKGAVSSALYMAWLEALSKDLPPILLV
RGNHQSVLTFYS

• AA_permease (PF00324 )
• AA_permease_N (PF08403 )

• None

• 93-113 286-306 310-330 367-387 411-431 436-456 487-507 521-541 592-612 658-678 679-699 725-745

ATGGAGCCGCGGCCCACGGCGCCCTCCTCCGGCGCCCCGGGACTGGCCGGGGTCGGGGAG
ACGCCGTCAGCCGCTGCGCTGGCCGCAGCCAGGGTGGAACTGCCCGGCACGGCTGTGCCC
TCGGTGCCGGAGGATGCTGCGCCCGCGAGCCGGGACGGCGGCGGGGTCCGCGATGAGGGC
CCCGCGGCGGCCGGGGACGGGCTGGGCAGACCCTTGGGGCCCACCCCGAGCCAGAGCCGT
TTCCAGGTGGACCTGGTTTCCGAGAACGCCGGGCGGGCCGCTGCTGCGGCGGCGGCGGCG
GCGGCGGCAGCGGCGGCGGCTGGTGCTGGGGCGGGGGCCAAGCAGACCCCCGCGGACGGG
GAAGCCAGCGGCGAGAGCGAGCCAGCTAAAGGCAGCGAGGAAGCCAAGGGCCGCTTCCGC
GTGAACTTCGTGGACCCAGCTGCCTCCTCGTCGGCTGAAGACAGCCTGTCAGATGCTGCC
GGGGTCGGAGTCGACGGGCCCAACGTGAGCTTCCAGAACGGCGGGGACACGGTGCTGAGC
GAGGGCAGCAGCCTGCACTCCGGCGGCGGCGGCGGCAGTGGGCACCACCAGCACTACTAT
TATGATACCCACACCAACACCTACTACCTGCGCACCTTCGGCCACAACACCATGGACGCT
GTGCCCAGGATCGATCACTACCGGCACACAGCCGCGCAGCTGGGCGAGAAGCTGCTCCGG
CCTAGCCTGGCGGAGCTCCACGACGAGCTGGAAAAGGAACCTTTTGAGGATGGCTTTGCA
AATGGGGAAGAAAGTACTCCAACCAGAGATGCTGTGGTCACGTATACTGCAGAAAGTAAA
GGAGTCGTGAAGTTTGGCTGGATCAAGGGTGTATTAGTACGTTGTATGTTAAACATTTGG
GGTGTGATGCTTTTCATTAGATTGTCATGGATTGTGGGTCAAGCTGGAATAGGTCTATCA
GTCCTTGTAATAATGATGGCCACTGTTGTGACAACTATCACAGGATTGTCTACTTCAGCA
ATAGCAACTAATGGATTTGTAAGAGGAGGAGGAGCATATTATTTAATATCTAGAAGTCTA
GGGCCAGAATTTGGTGGTGCAATTGGTCTAATCTTCGCCTTTGCCAACGCTGTTGCAGTT
GCTATGTATGTGGTTGGATTTGCAGAAACCGTGGTGGAGTTGCTTAAGGAACATTCCATA
CTTATGATAGATGAAATCAATGATATCCGAATTATTGGAGCCATTACAGTCGTGATTCTT
TTAGGTATCTCAGTAGCTGGAATGGAGTGGGAAGCAAAAGCTCAGATTGTTCTTTTGGTG
ATCCTACTTCTTGCTATTGGTGATTTCGTCATAGGAACATTTATCCCACTGGAGAGCAAG
AAGCCAAAAGGGTTTTTTGGTTATAAATCTGAAATATTTAATGAGAACTTTGGGCCCGAT
TTTCGAGAGGAAGAGACTTTCTTTTCTGTATTTGCCATCTTTTTTCCTGCTGCAACTGGT
ATTCTGGCTGGAGCAAATATCTCAGGTGATCTTGCAGATCCTCAGTCAGCCATACCCAAA
GGAACACTCCTAGCCATTTTAATTACTACATTGGTTTACGTAGGAATTGCAGTATCTGTA
GGTTCTTGTGTTGTTCGAGATGCCACTGGAAACGTTAATGACACTATCGTAACAGAGCTA
ACAAACTGTACTTCTGCAGCCTGCAAATTAAACTTTGATTTTTCATCTTGTGAAAGCAGT
CCTTGTTCCTATGGCCTAATGAACAACTTCCAGGTAATGAGTATGGTGTCAGGATTTACA
CCACTAATTTCTGCAGGTATATTTTCAGCCACTCTTTCTTCAGCATTAGCATCCCTAGTG
AGTGCTCCCAAAATATTTCAGGCTCTATGTAAGGACAACATCTACCCAGCTTTCCAGATG
TTTGCTAAAGGTTATGGGAAAAATAATGAACCTCTTCGTGGCTACATCTTAACATTCTTA
ATTGCACTTGGATTCATCTTAATTGCTGAACTGAATGTTATTGCACCAATTATCTCAAAC
TTCTTCCTTGCATCATATGCATTGATCAATTTTTCAGTATTCCATGCATCACTTGCAAAA
TCTCCAGGATGGCGTCCTGCATTCAAATACTACAACATGTGGATATCACTTCTTGGAGCA
ATTCTTTGTTGCATAGTAATGTTCGTCATTAACTGGTGGGCTGCATTGCTAACATATGTG
ATAGTCCTTGGGCTGTATATTTATGTTACCTACAAAAAACCAGATGTGAATTGGGGATCC
TCTACACAAGCCCTGACTTACCTGAATGCACTGCAGCATTCAATTCGTCTTTCTGGAGTG
GAAGACCACGTGAAAAACTTTAGGCCACAGTGTCTTGTTATGACAGGTGCTCCAAACTCA
CGTCCAGCTTTACTTCATCTTGTTCATGATTTCACAAAAAATGTTGGTTTGATGATCTGT
GGCCATGTACATATGGGTCCTCGAAGACAAGCCATGAAAGAGATGTCCATCGATCAAGCC
AAATATCAGCGATGGCTTATTAAGAACAAAATGAAGGCATTTTATGCTCCAGTACATGCA
GATGACTTGAGAGAAGGTGCACAGTATTTGATGCAGGCTGCTGGTCTTGGTCGTATGAAG
CCAAACACACTTGTCCTTGGATTTAAGAAAGATTGGTTGCAAGCAGATATGAGGGATGTG
GATATGTATATAAACTTATTTCATGATGCTTTTGACATACAATATGGAGTAGTGGTTATT
CGCCTAAAAGAAGGTCTGGATATATCTCATCTTCAAGGACAAGAAGAATTATTGTCATCA
CAAGAGAAATCTCCTGGCACCAAGGATGTGGTAGTAAGTGTGGAATATAGTAAAAAGTCC
GATTTAGATACTTCCAAACCACTCAGTGAAAAACCAATTACACACAAAGTTGAGGAAGAG
GATGGCAAGACTGCAACTCAACCACTGTTGAAAAAAGAATCCAAAGGCCCTATTGTGCCT
TTAAATGTAGCTGACCAAAAGCTTCTTGAAGCTAGTACACAGTTTCAGAAAAAACAAGGA
AAGAATACTATTGATGTCTGGTGGCTTTTTGATGATGGAGGTTTGACCTTATTGATACCT
TACCTTCTGACGACCAAGAAAAAATGGAAAGACTGTAAGATCAGAGTATTCATTGGTGGA
AAGATAAACAGAATAGACCATGACCGGAGAGCGATGGCTACTTTGCTTAGCAAGTTCCGG
ATAGACTTTTCTGATATCATGGTTCTAGGAGATATCAATACCAAACCAAAGAAAGAAAAT
ATTATAGCTTTTGAGGAAATCATTGAGCCATACAGACTTCATGAAGATGATAAAGAGCAA
GATATTGCAGATAAAATGAAAGAAGATGAACCATGGCGAATAACAGATAATGAGCTTGAA
CTTTATAAGACCAAGACATACCGGCAGATCAGGTTAAATGAGTTATTAAAGGAACATTCA
AGCACAGCTAATATTATTGTCATGAGTCTCCCAGTTGCACGAAAAGGTGCTGTGTCTAGT
GCTCTCTACATGGCATGGTTAGAAGCTCTATCTAAGGACCTACCACCAATCCTCCTAGTT
CGTGGGAATCATCAGAGTGTCCTTACCTTCTATTCATAA

1. Payne JA, Xu JC, Haas M, Lytle CY, Ward D, Forbush B 3rd: Primary structure, functional expression, and chromosomal localization of the bumetanide-sensitive Na-K-Cl cotransporter in human colon. J Biol Chem. 1995 Jul 28;270(30):17977-85. [PubMed ]
2. Vibat CR, Holland MJ, Kang JJ, Putney LK, O'Donnell ME: Quantitation of Na+-K+-2Cl- cotransport splice variants in human tissues using kinetic polymerase chain reaction. Anal Biochem. 2001 Nov 15;298(2):218-30. [PubMed ]
3. 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 ]
4. 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 ]
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. Sodium-independent chloride/iodide transporter
2. Solute carrier family 26 member 4

MAAPGGRSEPPQLPEYSCSYMVSRPVYSELAFQQQHERRLQERKTLRESLAKCCSCSRKR
AFGVLKTLVPILEWLPKYRVKEWLLSDVISGVSTGLVATLQGMAYALLAAVPVGYGLYSA
FFPILTYFIFGTSRHISVGPFPVVSLMVGSVVLSMAPDEHFLVSSSNGTVLNTTMIDTAA
RDTARVLIASALTLLVGIIQLIFGGLQIGFIVRYLADPLVGGFTTAAAFQVLVSQLKIVL
NVSTKNYNGVLSIIYTLVEIFQNIGDTNLADFTAGLLTIVVCMAVKELNDRFRHKIPVPI
PIEVIVTIIATAISYGANLEKNYNAGIVKSIPRGFLPPELPPVSLFSEMLAASFSIAVVA
YAIAVSVGKVYATKYDYTIDGNQEFIAFGISNIFSGFFSCFVATTALSRTAVQESTGGKT
QVAGIISAAIVMIAILALGKLLEPLQKSVLAAVVIANLKGMFMQLCDIPRLWRQNKIDAV
IWVFTCIVSIILGLDLGLLAGLIFGLLTVVLRVQFPSWNGLGSIPSTDIYKSTKNYKNIE
EPQGVKILRFSSPIFYGNVDGFKKCIKSTVGFDAIRVYNKRLKALRKIQKLIKSGQLRAT
KNGIISDAVSTNNAFEPDEDIEDLEELDIPTKEIEIQVDWNSELPVKVNVPKVPIHSLVL
DCGAISFLDVVGVRSLRVIVKEFQRIDVNVYFASLQDYVIEKLEQCGFFDDNIRKDTFFL
TVHDAILYLQNQVKSQEGQGSILETITLIQDCKDTLELIETELTEEELDVQDEAMRTLAS

• STAS (PF01740 )
• Sulfate_transp (PF00916 )

• None

• 110-130 136-156 192-212 264-284 296-316 345-365 385-405 422-442 449-469 487-507 653-673

ATGGCAGCGCCAGGCGGCAGGTCGGAGCCGCCGCAGCTCCCCGAGTACAGCTGCAGCTAC
ATGGTGTCGCGGCCGGTCTACAGCGAGCTCGCTTTCCAGCAACAGCACGAGCGGCGCCTG
CAGGAGCGCAAGACGCTGCGGGAGAGCCTGGCCAAGTGCTGCAGTTGTTCAAGAAAGAGA
GCCTTTGGTGTGCTAAAGACTCTTGTGCCCATCTTGGAGTGGCTCCCCAAATACCGAGTC
AAGGAATGGCTGCTTAGTGACGTCATTTCGGGAGTTAGTACTGGGCTAGTGGCCACGCTG
CAAGGGATGGCATATGCCCTACTAGCTGCAGTTCCTGTCGGATATGGTCTCTACTCTGCT
TTTTTCCCTATCCTGACATACTTTATCTTTGGAACATCAAGACATATCTCAGTTGGACCT
TTTCCAGTGGTGAGTTTAATGGTGGGATCTGTTGTTCTGAGCATGGCCCCCGACGAACAC
TTTCTCGTATCCAGCAGCAATGGAACTGTATTAAATACTACTATGATAGACACTGCAGCT
AGAGATACAGCTAGAGTCCTGATTGCCAGTGCCCTGACTCTGCTGGTTGGAATTATACAG
TTGATATTTGGTGGCTTGCAGATTGGATTCATAGTGAGGTACTTGGCAGATCCTTTGGTT
GGTGGCTTCACAACAGCTGCTGCCTTCCAAGTGCTGGTCTCACAGCTAAAGATTGTCCTC
AATGTTTCAACCAAAAACTACAATGGAGTTCTCTCTATTATCTATACGCTGGTTGAGATT
TTTCAAAATATTGGTGATACCAATCTTGCTGATTTCACTGCTGGATTGCTCACCATTGTC
GTCTGTATGGCAGTTAAGGAATTAAATGATCGGTTTAGACACAAAATCCCAGTCCCTATT
CCTATAGAAGTAATTGTGACGATAATTGCTACTGCCATTTCATATGGAGCCAACCTGGAA
AAAAATTACAATGCTGGCATTGTTAAATCCATCCCAAGGGGGTTTTTGCCTCCTGAACTT
CCACCTGTGAGCTTGTTCTCGGAGATGCTGGCTGCATCATTTTCCATCGCTGTGGTGGCT
TATGCTATTGCAGTGTCAGTAGGAAAAGTATATGCCACCAAGTATGATTACACCATCGAT
GGGAACCAGGAATTCATTGCCTTTGGGATCAGCAACATCTTCTCAGGATTCTTCTCTTGT
TTTGTGGCCACCACTGCTCTTTCCCGCACGGCCGTCCAGGAGAGCACTGGAGGAAAGACA
CAGGTTGCTGGCATCATCTCTGCTGCGATTGTGATGATCGCCATTCTTGCCCTGGGGAAG
CTTCTGGAACCCTTGCAGAAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGG
ATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTT
ATCTGGGTGTTTACGTGTATAGTGTCCATCATTCTGGGGCTGGATCTCGGTTTACTAGCT
GGCCTTATATTTGGACTGTTGACTGTGGTCCTGAGAGTTCAGTTTCCTTCTTGGAATGGC
CTTGGAAGCATCCCTAGCACAGATATCTACAAAAGTACCAAGAATTACAAAAACATTGAA
GAACCTCAAGGAGTGAAGATTCTTAGATTTTCCAGTCCTATTTTCTATGGCAATGTCGAT
GGTTTTAAAAAATGTATCAAGTCCACAGTTGGATTTGATGCCATTAGAGTATATAATAAG
AGGCTGAAAGCGCTGAGGAAAATACAGAAACTAATAAAAAGTGGACAATTAAGAGCAACA
AAGAATGGCATCATAAGTGATGCTGTTTCAACAAATAATGCTTTTGAGCCTGATGAGGAT
ATTGAAGATCTGGAGGAACTTGATATCCCAACCAAGGAAATAGAGATTCAAGTGGATTGG
AACTCTGAGCTTCCAGTCAAAGTGAACGTTCCCAAAGTGCCAATCCATAGCCTTGTGCTT
GACTGTGGAGCTATATCTTTCCTGGACGTTGTTGGAGTGAGATCACTGCGGGTGATTGTC
AAAGAATTCCAAAGAATTGATGTGAATGTGTATTTTGCATCACTTCAAGATTATGTGATA
GAAAAGCTGGAGCAATGCGGGTTCTTTGACGACAACATTAGAAAGGACACATTCTTTTTG
ACGGTCCATGATGCTATACTCTATCTACAGAACCAAGTGAAATCTCAAGAGGGTCAAGGT
TCCATTTTAGAAACGATCACTCTCATTCAGGATTGTAAAGATACCCTTGAATTAATAGAA
ACAGAGCTGACGGAAGAAGAACTTGATGTCCAGGATGAGGCTATGCGTACACTTGCATCC
TGA

1. Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED: Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet. 1997 Dec;17(4):411-22. [PubMed ]
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 ]
3. Scott DA, Wang R, Kreman TM, Sheffield VC, Karniski LP: The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat Genet. 1999 Apr;21(4):440-3. [PubMed ]
4. Van Hauwe P, Everett LA, Coucke P, Scott DA, Kraft ML, Ris-Stalpers C, Bolder C, Otten B, de Vijlder JJ, Dietrich NL, Ramesh A, Srisailapathy SC, Parving A, Cremers CW, Willems PJ, Smith RJ, Green ED, Van Camp G: Two frequent missense mutations in Pendred syndrome. Hum Mol Genet. 1998 Jul;7(7):1099-104. [PubMed ]
5. Coyle B, Reardon W, Herbrick JA, Tsui LC, Gausden E, Lee J, Coffey R, Grueters A, Grossman4 A, Phelps PD, Luxon L, Kendall-Taylor P, Scherer SW, Trembath RC: Molecular analysis of the PDS gene in Pendred syndrome. Hum Mol Genet. 1998 Jul;7(7):1105-12. [PubMed ]
6. Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER: A mutation in PDS causes non-syndromic recessive deafness. Nat Genet. 1998 Mar;18(3):215-7. [PubMed ]
7. Usami S, Abe S, Weston MD, Shinkawa H, Van Camp G, Kimberling WJ: Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet. 1999 Feb;104(2):188-92. [PubMed ]
8. Masmoudi S, Charfedine I, Hmani M, Grati M, Ghorbel AM, Elgaied-Boulila A, Drira M, Hardelin JP, Ayadi H: Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. Am J Med Genet. 2000 Jan 3;90(1):38-44. [PubMed ]
9. Bogazzi F, Raggi F, Ultimieri F, Campomori A, Cosci C, Berrettini S, Neri E, La Rocca R, Ronca G, Martino E, Bartalena L: A novel mutation in the pendrin gene associated with Pendred's syndrome. Clin Endocrinol (Oxf). 2000 Mar;52(3):279-85. [PubMed ]
10. Adato A, Raskin L, Petit C, Bonne-Tamir B: Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus. Eur J Hum Genet. 2000 Jun;8(6):437-42. [PubMed ]
11. Reardon W, OMahoney CF, Trembath R, Jan H, Phelps PD: Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. QJM. 2000 Feb;93(2):99-104. [PubMed ]
12. Gonzalez Trevino O, Karamanoglu Arseven O, Ceballos CJ, Vives VI, Ramirez RC, Gomez VV, Medeiros-Neto G, Kopp P: Clinical and molecular analysis of three Mexican families with Pendred's syndrome. Eur J Endocrinol. 2001 Jun;144(6):585-93. [PubMed ]
13. Campbell C, Cucci RA, Prasad S, Green GE, Edeal JB, Galer CE, Karniski LP, Sheffield VC, Smith RJ: Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat. 2001 May;17(5):403-11. [PubMed ]
14. Lopez-Bigas N, Melchionda S, de Cid R, Grifa A, Zelante L, Govea N, Arbones ML, Gasparini P, Estivill X: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. Hum Mutat. 2001 Dec;18(6):548. [PubMed ]
15. Lopez-Bigas N, Melchionda S, de Cid R, Grifa A, Zelante L, Govea N, Arbones ML, Gasparini P, Estivill X: Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. Hum Mutat. 2002 Jul;20(1):77-8. [PubMed ]
16. Taylor JP, Metcalfe RA, Watson PF, Weetman AP, Trembath RC: Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome. J Clin Endocrinol Metab. 2002 Apr;87(4):1778-84. [PubMed ]
17. Fugazzola L, Cerutti N, Mannavola D, Crino A, Cassio A, Gasparoni P, Vannucchi G, Beck-Peccoz P: Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. Pediatr Res. 2002 Apr;51(4):479-84. [PubMed ]
18. Tekin M, Akcayoz D, Comak E, Bogoclu G, Duman T, Fitoz S, Ilhan I, Akar N: Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey. Clin Genet. 2003 Oct;64(4):371-4. [PubMed ]
19. Tsukamoto K, Suzuki H, Harada D, Namba A, Abe S, Usami S: Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. Eur J Hum Genet. 2003 Dec;11(12):916-22. [PubMed ]
20. Borck G, Roth C, Martine U, Wildhardt G, Pohlenz J: Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation. J Clin Endocrinol Metab. 2003 Jun;88(6):2916-21. [PubMed ]
21. Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Kim HN, Moon SK, Abe S, Tukamoto K, Riazuddin S, Kabra M, Erdenetungalag R, Radnaabazar J, Khan S, Pandya A, Usami SI, Nance WE, Wilcox ER, Riazuddin S, Griffith AJ: Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet. 2003 Apr;40(4):242-8. [PubMed ]
22. Prasad S, Kolln KA, Cucci RA, Trembath RC, Van Camp G, Smith RJ: Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. Am J Med Genet A. 2004 Jan 1;124A(1):1-9. [PubMed ]
23. Blons H, Feldmann D, Duval V, Messaz O, Denoyelle F, Loundon N, Sergout-Allaoui A, Houang M, Duriez F, Lacombe D, Delobel B, Leman J, Catros H, Journel H, Drouin-Garraud V, Obstoy MF, Toutain A, Oden S, Toublanc JE, Couderc R, Petit C, Garabedian EN, Marlin S: Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. Clin Genet. 2004 Oct;66(4):333-40. [PubMed ]
24. Napiontek U, Borck G, Muller-Forell W, Pfarr N, Bohnert A, Keilmann A, Pohlenz J: Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene. J Clin Endocrinol Metab. 2004 Nov;89(11):5347-51. [PubMed ]
25. Pryor SP, Madeo AC, Reynolds JC, Sarlis NJ, Arnos KS, Nance WE, Yang Y, Zalewski CK, Brewer CC, Butman JA, Griffith AJ: SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. J Med Genet. 2005 Feb;42(2):159-65. [PubMed ]
26. Pfarr N, Borck G, Turk A, Napiontek U, Keilmann A, Muller-Forell W, Kopp P, Pohlenz J: Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes. J Clin Endocrinol Metab. 2006 Jul;91(7):2678-81. Epub 2006 May 9. [PubMed ]
27. Choi BY, Stewart AK, Madeo AC, Pryor SP, Lenhard S, Kittles R, Eisenman D, Kim HJ, Niparko J, Thomsen J, Arnos KS, Nance WE, King KA, Zalewski CK, Brewer CC, Shawker T, Reynolds JC, Butman JA, Karniski LP, Alper SL, Griffith AJ: Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? Hum Mutat. 2009 Apr;30(4):599-608. [PubMed ]

1. Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2
2. Kidney-specific Na-K-Cl symporter

MSLNNSSNVFLDSVPSNTNRFQVSVINENHESSAAADDNTDPPHYEETSFGDEAQKRLRI
SFRPGNQECYDNFLQSGETAKTDASFHAYDSHTNTYYLQTFGHNTMDAVPKIEYYRNTGS
ISGPKVNRPSLLEIHEQLAKNVAVTPSSADRVANGDGIPGDEQAENKEDDQAGVVKFGWV
KGVLVRCMLNIWGVMLFIRLSWIVGEAGIGLGVLIILLSTMVTSITGLSTSAIATNGFVR
GGGAYYLISRSLGPEFGGSIGLIFAFANAVAVAMYVVGFAETVVDLLKESDSMMVDPTND
IRIIGSITVVILLGISVAGMEWEAKAQVILLVILLIAIANFFIGTVIPSNNEKKSRGFFN
YQASIFAENFGPRFTKGEGFFSVFAIFFPAATGILAGANISGDLEDPQDAIPRGTMLAIF
ITTVAYLGVAICVGACVVRDATGNMNDTIISGMNCNGSAACGLGYDFSRCRHEPCQYGLM
NNFQVMSMVSGFGPLITAGIFSATLSSALASLVSAPKVFQALCKDNIYKALQFFAKGYGK
NNEPLRGYILTFLIAMAFILIAELNTIAPIISNFFLASYALINFSCFHASYAKSPGWRPA
YGIYNMWVSLFGAVLCCAVMFVINWWAAVITYVIEFFLYVYVTCKKPDVNWGSSTQALSY
VSALDNALELTTVEDHVKNFRPQCIVLTGGPMTRPALLDITHAFTKNSGLCICCEVFVGP
RKLCVKEMNSGMAKKQAWLIKNKIKAFYAAVAADCFRDGVRSLLQASGLGRMKPNTLVIG
YKKNWRKAPLTEIENYVGIIHDAFDFEIGVVIVRISQGFDISQVLQVQEELERLEQERLA
LEATIKDNECEEESGGIRGLFKKAGKLNITKTTPKKDGSINTSQSMHVGEFNQKLVEAST
QFKKKQEKGTIDVWWLFDDGGLTLLIPYILTLRKKWKDCKLRIYVGGKINRIEEEKIVMA
SLLSKFRIKFADIHIIGDINIRPNKESWKVFEEMIEPYRLHESCKDLTTAEKLKRETPWK
ITDAELEAVKEKSYRQVRLNELLQEHSRAANLIVLSLPVARKGSISDLLYMAWLEILTKN
LPPVLLVRGNHKNVLTFYS

• AA_permease (PF00324 )
• AA_permease_N (PF08403 )

• None

• 178-198 202-222 260-280 303-323 328-348 380-400 418-438 485-505 551-571 572-592 610-630 793-813

ATGTCACTGAACAACTCTTCCAATGTATTTCTGGATTCAGTGCCCAGTAATACCAATCGC
TTTCAAGTTAGTGTCATAAATGAGAACCATGAGAGCAGTGCAGCTGCAGATGACAATACT
GACCCACCACATTATGAAGAAACCTCTTTTGGGGATGAAGCTCAGAAAAGACTCAGAATC
AGCTTTAGGCCTGGGAATCAGGAGTGCTATGACAATTTCCTCCAAAGTGGAGAAACTGCT
AAAACAGATGCCAGTTTTCACGCTTATGATTCTCACACAAACACATACTATCTACAAACT
TTTGGCCACAACACCATGGATGCCGTTCCCAAGATAGAGTACTATCGTAACACCGGCAGC
ATCAGTGGGCCCAAGGTCAACCGACCCAGCCTGCTTGAGATTCACGAGCAACTCGCAAAG
AATGTGGCAGTCACCCCAAGTTCAGCTGACAGAGTTGCTAACGGTGATGGGATACCTGGA
GATGAACAAGCTGAAAATAAGGAAGATGATCAAGCTGGTGTTGTGAAGTTTGGATGGGTG
AAAGGTGTGCTGGTAAGATGCATGCTGAACATCTGGGGAGTCATGCTCTTCATTCGCCTC
TCCTGGATTGTTGGAGAAGCTGGAATTGGTCTTGGAGTTCTCATAATTCTTCTTTCCACC
ATGGTAACTTCTATTACTGGGTTGTCAACTTCTGCGATAGCAACTAACGGGTTTGTTCGT
GGAGGTGGGGCCTACTATCTTATTTCCAGAAGTTTAGGGCCCGAGTTCGGTGGGTCAATA
GGCCTGATCTTTGCTTTTGCTAATGCAGTGGCTGTTGCTATGTATGTGGTGGGATTTGCT
GAGACTGTAGTAGATCTTCTTAAGGAGAGTGATTCGATGATGGTGGATCCAACCAATGAC
ATCCGGATTATAGGCTCCATCACAGTGGTGATTCTTCTAGGAATTTCAGTAGCTGGAATG
GAATGGGAGGCAAAGGCCCAAGTCATTCTTCTGGTCATTCTTCTAATTGCTATTGCAAAC
TTCTTCATTGGAACTGTCATTCCATCCAACAATGAGAAAAAGTCCAGAGGTTTCTTTAAT
TACCAAGCATCAATATTTGCAGAAAACTTTGGGCCACGCTTCACAAAGGGTGAAGGCTTC
TTCTCTGTCTTTGCCATTTTTTTCCCAGCAGCTACTGGGATTCTTGCTGGTGCCAATATC
TCAGGAGATTTGGAGGATCCCCAAGATGCCATCCCCAGAGGAACCATGCTGGCCATTTTC
ATCACCACTGTTGCCTACTTAGGGGTTGCAATTTGTGTAGGGGCCTGTGTGGTCCGAGAT
GCCACCGGGAACATGAATGACACCATCATTTCTGGGATGAACTGCAATGGTTCAGCAGCA
TGTGGGTTGGGCTATGACTTCTCAAGATGTCGACATGAACCATGTCAGTACGGGCTGATG
AACAATTTCCAGGTCATGAGCATGGTATCAGGGTTCGGCCCCCTCATCACTGCGGGAATC
TTTTCTGCAACACTCTCCTCCGCCCTGGCCTCCCTTGTCAGCGCACCCAAAGTGTTCCAG
GCTCTGTGCAAGGACAACATCTACAAAGCCCTGCAGTTTTTTGCAAAGGGATATGGGAAA
AACAATGAACCCCTGAGAGGATATATTCTCACTTTTCTTATAGCCATGGCATTTATTCTT
ATTGCGGAACTGAACACCATTGCTCCCATCATCTCCAACTTTTTCCTGGCCTCATATGCA
CTTATTAATTTCTCCTGCTTCCATGCCTCTTATGCCAAATCTCCAGGATGGAGACCTGCG
TATGGAATTTACAACATGTGGGTATCTCTTTTTGGAGCTGTTTTGTGCTGTGCAGTCATG
TTTGTCATCAACTGGTGGGCAGCTGTCATCACCTATGTCATTGAATTCTTCCTTTACGTC
TATGTGACTTGTAAGAAGCCAGATGTGAACTGGGGCTCCTCCACACAGGCTCTTTCCTAC
GTGAGTGCTTTAGACAATGCTCTGGAATTAACCACAGTGGAAGACCACGTAAAAAACTTC
AGGCCCCAGTGCATTGTCTTAACAGGGGGACCCATGACAAGACCTGCTCTCCTGGACATA
ACTCACGCCTTTACCAAGAACAGTGGCCTTTGCATCTGCTGTGAAGTCTTTGTGGGACCG
CGCAAACTGTGTGTTAAGGAGATGAACAGTGGCATGGCGAAAAAACAGGCCTGGCTTATA
AAGAACAAAATCAAGGCTTTTTATGCTGCAGTGGCGGCAGACTGTTTCAGGGATGGTGTC
CGAAGTCTTCTTCAGGCCTCAGGCTTAGGAAGAATGAAACCAAACACTCTGGTGATTGGA
TATAAGAAAAACTGGAGGAAAGCTCCCTTGACAGAGATTGAGAACTACGTGGGAATCATA
CATGATGCATTTGATTTTGAGATTGGCGTGGTTATAGTCAGAATCAGCCAAGGATTTGAC
ATCTCTCAGGTTCTTCAGGTGCAAGAGGAATTAGAGAGATTAGAACAGGAGAGACTAGCA
TTGGAAGCGACTATCAAAGATAATGAGTGTGAAGAGGAAAGTGGAGGCATCCGAGGCTTG
TTTAAAAAAGCTGGCAAGTTGAACATTACTAAGACAACGCCTAAAAAAGATGGCAGCATT
AACACAAGCCAGTCGATGCATGTGGGAGAGTTCAACCAGAAACTGGTGGAAGCCAGCACT
CAATTTAAAAAGAAACAAGAAAAAGGCACAATTGATGTTTGGTGGTTGTTTGATGATGGA
GGGTTAACACTTCTTATCCCCTATATCTTAACTCTCAGAAAAAAATGGAAAGACTGTAAA
TTAAGAATCTATGTGGGAGGGAAGATCAACCGCATTGAAGAAGAAAAAATTGTAATGGCT
TCCCTTCTGAGCAAATTTAGGATAAAATTTGCAGACATCCATATCATCGGTGACATCAAC
ATTAGGCCAAACAAAGAGAGCTGGAAAGTCTTTGAAGAGATGATTGAACCATATCGTCTC
CATGAAAGCTGCAAAGATTTAACAACTGCTGAGAAATTAAAAAGAGAAACTCCGTGGAAA
ATTACAGATGCAGAACTGGAAGCAGTCAAGGAAAAGAGTTACCGCCAAGTTCGACTGAAT
GAACTCTTACAGGAGCACTCCAGAGCTGCTAATCTCATTGTCCTGAGCCTTCCCGTGGCA
AGAAAGGGATCCATATCGGATTTGTTGTATATGGCTTGGTTGGAAATCCTCACAAAGAAC
CTCCCACCTGTCTTACTAGTTAGAGGAAATCACAAAAATGTCTTGACATTTTACTCTTAA

1. Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP: Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet. 1996 Jun;13(2):183-8. [PubMed ]
2. Zody MC, Garber M, Sharpe T, Young SK, Rowen L, O'Neill K, Whittaker CA, Kamal M, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Kodira CD, Madan A, Qin S, Yang X, Abbasi N, Abouelleil A, Arachchi HM, Baradarani L, Birditt B, Bloom S, Bloom T, Borowsky ML, Burke J, Butler J, Cook A, DeArellano K, DeCaprio D, Dorris L 3rd, Dors M, Eichler EE, Engels R, Fahey J, Fleetwood P, Friedman C, Gearin G, Hall JL, Hensley G, Johnson E, Jones C, Kamat A, Kaur A, Locke DP, Madan A, Munson G, Jaffe DB, Lui A, Macdonald P, Mauceli E, Naylor JW, Nesbitt R, Nicol R, O'Leary SB, Ratcliffe A, Rounsley S, She X, Sneddon KM, Stewart S, Sougnez C, Stone SM, Topham K, Vincent D, Wang S, Zimmer AR, Birren BW, Hood L, Lander ES, Nusbaum C: Analysis of the DNA sequence and duplication history of human chromosome 15. Nature. 2006 Mar 30;440(7084):671-5. [PubMed ]

1. Electroneutral potassium-chloride cotransporter 1
2. Erythroid K-Cl cotransporter 1
3. hKCC1

MPHFTVVPVDGPRRGDYDNLEGLSWVDYGERAELDDSDGHGNHRESSPFLSPLEASRGID
YYDRNLALFEEELDIRPKVSSLLGKLVSYTNLTQGAKEHEEAESGEGTRRRAAEAPSMGT
LMGVYLPCLQNIFGVILFLRLTWMVGTAGVLQALLIVLICCCCTLLTAISMSAIATNGVV
PAGGSYFMISRSLGPEFGGAVGLCFYLGTTFAAAMYILGAIEILLTYIAPPAAIFYPSGA
HDTSNATLNNMRVYGTIFLTFMTLVVFVGVKYVNKFASLFLACVIISILSIYAGGIKSIF
DPPVFPVCMLGNRTLSRDQFDICAKTAVVDNETVATQLWSFFCHSPNLTTDSCDPYFMLN
NVTEIPGIPGAAAGVLQENLWSAYLEKGDIVEKHGLPSADAPSLKESLPLYVVADIATSF
TVLVGIFFPSVTGIMAGSNRSGDLRDAQKSIPVGTILAIITTSLVYFSSVVLFGACIEGV
VLRDKYGDGVSRNLVVGTLAWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAIAKDNIIP
FLRVFGHGKVNGEPTWALLLTALIAELGILIASLDMVAPILSMFFLMCYLFVNLACAVQT
LLRTPNWRPRFKYYHWALSFLGMSLCLALMFVSSWYYALVAMLIAGMIYKYIEYQGAEKE
WGDGIRGLSLSAARYALLRLEEGPPHTKNWRPQLLVLLKLDEDLHVKYPRLLTFASQLKA
GKGLTIVGSVIQGSFLESYGEAQAAEQTIKNMMEIEKVKGFCQVVVASKVREGLAHLIQS
CGLGGMRHNSVVLGWPYGWRQSEDPRAWKTFIDTVRCTTAAHLALLVPKNIAFYPSNHER
YLEGHIDVWWIVHDGGMLMLLPFLLRQHKVWRKCRMRIFTVAQMDDNSIQMKKDLAVFLY
HLRLEAEVEVVEMHNSDISAYTYERTLMMEQRSQMLRQMRLTKTEREREAQLVKDRHSAL
RLESLYSDEEDESAVGADKIQMTWTRDKYMTETWDPSHAPDNFRELVHIKPDQSNVRRMH
TAVKLNEVIVTRSHDARLVLLNMPGPPRNSEGDENYMEFLEVLTEGLERVLLVRGGGREV
ITIYS

• AA_permease (PF00324 )
• KCl_Cotrans_1 (PF03522 )

• None

• 119-139 149-169 215-235 253-273 276-296 356-376 408-428 453-473 494-514 567-587 628-648 845-865

ATGCCTCACTTCACCGTGGTGCCAGTGGACGGGCCGAGGCGCGGCGACTATGACAACCTC
GAGGGGCTCAGTTGGGTGGACTACGGGGAGCGCGCCGAGCTGGATGACTCGGACGGACAT
GGCAACCACAGAGAGAGCAGCCCTTTTCTTTCCCCCTTGGAGGCTTCCAGAGGAATTGAC
TACTATGACAGGAACCTGGCACTGTTTGAGGAAGAGCTGGACATCCGCCCAAAGGTATCG
TCTCTTCTGGGAAAGCTCGTCAGCTACACCAACCTCACCCAGGGCGCCAAAGAGCATGAG
GAGGCCGAGAGTGGGGAGGGCACCCGCCGGAGGGCAGCCGAGGCACCCAGCATGGGCACC
CTCATGGGGGTGTACCTGCCCTGCCTGCAGAATATCTTTGGGGTTATCCTCTTCCTGCGG
CTGACCTGGATGGTGGGCACAGCAGGTGTGCTACAGGCCCTCCTCATCGTGCTTATCTGC
TGCTGTTGTACCCTGCTGACGGCCATCTCCATGAGTGCCATCGCCACCAACGGTGTGGTT
CCAGCTGGGGGCTCCTATTTCATGATCTCTCGTTCACTGGGGCCAGAATTTGGAGGTGCT
GTGGGCCTGTGCTTCTACCTGGGAACAACATTCGCAGCAGCCATGTACATCCTGGGGGCC
ATCGAGATCTTGCTGACCTACATTGCCCCACCAGCTGCCATTTTTTACCCATCGGGTGCT
CATGACACGTCGAATGCCACTTTGAACAATATGCGTGTGTATGGGACCATTTTCCTGACC
TTCATGACCCTGGTGGTGTTTGTGGGGGTCAAGTATGTGAACAAATTTGCCTCGCTCTTC
CTGGCCTGTGTGATCATCTCCATCCTCTCCATCTATGCTGGGGGCATAAAGTCTATATTT
GACCCTCCCGTGTTTCCGGTATGCATGCTGGGCAACAGGACCCTGTCCCGGGACCAGTTT
GACATCTGTGCCAAGACAGCTGTAGTGGACAATGAGACAGTGGCCACCCAGCTATGGAGT
TTCTTCTGCCACAGCCCCAACCTTACGACCGACTCCTGTGACCCCTACTTCATGCTCAAC
AATGTGACCGAGATCCCTGGCATCCCCGGGGCAGCTGCTGGTGTGCTCCAGGAAAACCTG
TGGAGCGCCTACCTGGAGAAGGGTGACATCGTGGAGAAGCATGGGCTGCCCTCCGCAGAT
GCCCCGAGCCTGAAGGAGAGCCTGCCTCTGTACGTGGTCGCTGACATCGCCACATCCTTC
ACCGTGCTGGTCGGCATCTTCTTCCCTTCTGTAACAGGCATCATGGCTGGCTCAAACCGC
TCTGGGGACCTTCGTGACGCCCAGAAGTCTATCCCTGTGGGGACCATTCTGGCCATCATT
ACAACTTCCCTCGTGTACTTCAGCAGTGTGGTTCTCTTTGGTGCCTGCATTGAGGGTGTG
GTTCTCCGGGACAAGTATGGCGATGGTGTCAGCAGGAACTTGGTGGTGGGCACACTGGCC
TGGCCTTCACCCTGGGTCATCGTCATCGGCTCCTTCTTTTCAACGTGTGGCGCTGGCCTC
CAGAGCCTCACAGGGGCACCACGCCTATTGCAGGCCATTGCCAAGGACAACATCATCCCC
TTCCTCCGGGTGTTTGGCCACGGGAAGGTGAATGGTGAACCCACATGGGCACTCCTCCTG
ACGGCACTCATCGCCGAGCTGGGCATCCTCATCGCCTCCCTCGACATGGTGGCCCCCATC
TTATCCATGTTCTTTCTGATGTGCTACCTGTTCGTGAACCTCGCCTGTGCGGTGCAGACA
CTCCTGAGGACCCCCAACTGGCGGCCCCGGTTCAAGTACTATCACTGGGCGCTGTCCTTC
CTGGGCATGAGTCTCTGCCTGGCCCTTATGTTTGTCTCCTCCTGGTACTATGCCCTGGTG
GCCATGCTCATCGCCGGCATGATCTACAAATACATCGAGTACCAAGGGGCTGAGAAGGAG
TGGGGTGACGGGATCCGAGGCCTGTCCCTGAGCGCTGCCCGCTACGCGCTGTTGCGGCTG
GAGGAGGGGCCTCCTCACACCAAGAACTGGCGGCCGCAGCTGCTGGTGCTGCTGAAGCTG
GACGAGGACCTCCACGTGAAGTACCCGCGGCTCCTCACCTTCGCCTCCCAGCTCAAGGCT
GGCAAGGGCCTGACCATTGTTGGTTCTGTCATCCAGGGGAGCTTCTTGGAGAGCTATGGC
GAGGCTCAGGCCGCCGAGCAGACCATCAAGAACATGATGGAAATTGAGAAGGTGAAGGGC
TTCTGCCAGGTGGTGGTGGCCAGCAAGGTGCGGGAGGGGCTGGCCCACCTCATCCAGTCC
TGTGGCCTGGGAGGCATGCGGCATAACTCCGTGGTGCTGGGCTGGCCCTACGGCTGGCGA
CAGAGCGAGGACCCCCGTGCCTGGAAGACCTTCATTGACACCGTGCGCTGCACTACGGCT
GCCCACCTGGCCCTGCTCGTGCCCAAGAACATCGCCTTCTACCCCAGCAACCACGAGCGC
TACCTGGAGGGCCACATAGACGTGTGGTGGATCGTGCACGATGGTGGCATGCTCATGCTT
CTGCCCTTCCTGCTGCGCCAGCATAAGGTCTGGAGGAAGTGCCGGATGCGCATCTTCACA
GTGGCCCAGATGGATGACAACAGCATCCAGATGAAGAAGGACCTGGCTGTCTTTCTGTAC
CATCTGCGCCTTGAGGCCGAGGTGGAGGTGGTGGAGATGCATAACAGTGACATCTCTGCA
TACACCTACGAGCGGACGCTGATGATGGAGCAGCGGTCGCAGATGCTGCGGCAGATGAGA
CTGACCAAGACTGAGCGGGAGCGAGAAGCCCAGCTGGTCAAGGATCGGCACTCGGCCCTG
CGGCTGGAGAGCCTGTACTCGGACGAGGAAGATGAGTCTGCAGTGGGGGCTGACAAGATC
CAGATGACGTGGACCAGGGACAAGTACATGACTGAGACCTGGGACCCCAGCCATGCCCCT
GACAATTTCCGGGAGCTGGTGCACATTAAGCCGGACCAATCCAATGTGCGGCGCATGCAC
ACTGCTGTGAAGCTCAATGAAGTCATTGTCACGCGCTCCCACGACGCCCGCCTGGTTCTC
CTAAACATGCCTGGCCCACCCAGGAACAGTGAGGGCGACGAGAACTACATGGAGTTCCTC
GAGGTGCTGACCGAGGGCCTTGAGCGGGTGCTGTTGGTGCGCGGTGGTGGCCGTGAAGTC
ATCACCATCTACTCCTGA

1. Gillen CM, Brill S, Payne JA, Forbush B 3rd: Molecular cloning and functional expression of the K-Cl cotransporter from rabbit, rat, and human. A new member of the cation-chloride cotransporter family. J Biol Chem. 1996 Jul 5;271(27):16237-44. [PubMed ]
2. Pellegrino CM, Rybicki AC, Musto S, Nagel RL, Schwartz RS: Molecular identification and expression of erythroid K:Cl cotransporter in human and mouse erythroleukemic cells. Blood Cells Mol Dis. 1998 Mar;24(1):31-40. [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. Casula S, Shmukler BE, Wilhelm S, Stuart-Tilley AK, Su W, Chernova MN, Brugnara C, Alper SL: A dominant negative mutant of the KCC1 K-Cl cotransporter: both N- and C-terminal cytoplasmic domains are required for K-Cl cotransport activity. J Biol Chem. 2001 Nov 9;276(45):41870-8. Epub 2001 Sep 10. [PubMed ]
5. Su W, Shmukler BE, Chernova MN, Stuart-Tilley AK, de Franceschi L, Brugnara C, Alper SL: Mouse K-Cl cotransporter KCC1: cloning, mapping, pathological expression, and functional regulation. Am J Physiol. 1999 Nov;277(5 Pt 1):C899-912. [PubMed ]
6. 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 ]
7. 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. Electroneutral potassium-chloride cotransporter 3
2. K-Cl cotransporter 3

MHPPETTTKMASVRFMVTPTKIDDIPGLSDTSPDLSSRSSSRVRFSSRESVPETSRSEPM
SEMSGATTSLATVALDPPSDRTSHPQDVIEDLSQNSITGEHSQLLDDGHKKARNAYLNNS
NYEEGDEYFDKNLALFEEEMDTRPKVSSLLNRMANYTNLTQGAKEHEEAENITEGKKKPT
KTPQMGTFMGVYLPCLQNIFGVILFLRLTWVVGTAGVLQAFAIVLICCCCTMLTAISMSA
IATNGVVPAGGSYFMISRALGPEFGGAVGLCFYLGTTFAAAMYILGAIEIFLVYIVPRAA
IFHSDDALKESAAMLNNMRVYGTAFLVLMVLVVFIGVRYVNKFASLFLACVIVSILAIYA
GAIKSSFAPPHFPVCMLGNRTLSSRHIDVCSKTKEINNMTVPSKLWGFFCNSSQFFNATC
DEYFVHNNVTSIQGIPGLASGIITENLWSNYLPKGEIIEKPSAKSSDVLGSLNHEYVLVD
ITTSFTLLVGIFFPSVTGIMAGSNRSGDLKDAQKSIPIGTILAILTTSFVYLSNVVLFGA
CIEGVVLRDKFGDAVKGNLVVGTLSWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAIAK
DNIIPFLRVFGHSKANGEPTWALLLTAAIAELGILIASLDLVAPILSMFFLMCYLFVNLA
CALQTLLRTPNWRPRFRYYHWALSFMGMSICLALMFISSWYYAIVAMVIAGMIYKYIEYQ
GAEKEWGDGIRGLSLSAARFALLRLEEGPPHTKNWRPQLLVLLKLDEDLHVKHPRLLTFA
SQLKAGKGLTIVGSVIVGNFLENYGEALAAEQTIKHLMEAEKVKGFCQLVVAAKLREGIS
HLIQSCGLGGMKHNTVVMGWPNGWRQSEDARAWKTFIGTVRVTTAAHLALLVAKNISFFP
SNVEQFSEGNIDVWWIVHDGGMLMLLPFLLKQHKVWRKCSIRIFTVAQLEDNSIQMKKDL
ATFLYHLRIEAEVEVVEMHDSDISAYTYERTLMMEQRSQMLRHMRLSKTERDREAQLVKD
RNSMLRLTSIGSDEDEETETYQEKVHMTWTKDKYMASRGQKAKSMEGFQDLLNMRPDQSN
VRRMHTAVKLNEVIVNKSHEAKLVLLNMPGPPRNPEGDENYMEFLEVLTEGLERVLLVRG
GGSEVITIYS

• AA_permease (PF00324 )
• KCl_Cotrans_1 (PF03522 )

• None

• 186-206 208-228 236-256 277-297 320-340 343-363 481-501 518-538 559-579 632-652 690-710 910-930

ATGCATCCTCCAGAAACCACCACCAAGATGGCTTCAGTTCGGTTCATGGTGACACCGACA
AAGATCGATGACATTCCAGGTTTGTCAGACACCAGTCCGGACCTCAGCTCTCGATCTAGT
TCCCGAGTAAGATTTAGCTCCCGGGAAAGCGTGCCTGAAACAAGCCGGAGTGAGCCTATG
AGTGAGATGTCTGGGGCCACCACTTCGCTGGCAACTGTTGCACTGGATCCACCCAGTGAC
CGGACTTCTCACCCCCAGGATGTCATCGAGGACCTGAGTCAGAACTCCATCACAGGGGAA
CACAGCCAACTGTTAGACGACGGACATAAGAAAGCTCGAAATGCTTATCTCAATAATTCC
AATTATGAAGAAGGAGATGAATATTTTGATAAAAATTTGGCACTCTTTGAGGAAGAAATG
GACACCAGACCGAAGGTGTCTTCCCTCCTCAACCGCATGGCCAATTACACTAATCTGACT
CAAGGAGCAAAGGAACATGAAGAGGCAGAAAACATCACTGAAGGGAAAAAGAAGCCCACC
AAGACCCCCCAAATGGGTACCTTCATGGGTGTCTACCTCCCATGTCTACAAAATATTTTT
GGAGTGATCCTTTTTTTACGCCTTACATGGGTGGTGGGCACAGCTGGAGTTCTTCAGGCT
TTTGCAATTGTCCTTATCTGCTGCTGCTGTACAATGTTGACTGCTATCTCCATGAGTGCC
ATTGCCACTAATGGAGTGGTGCCAGCTGGGGGCTCATACTTTATGATTTCCCGGGCACTG
GGCCCAGAGTTTGGTGGGGCTGTTGGCCTCTGCTTTTATCTTGGTACCACATTTGCAGCA
GCCATGTACATCCTTGGTGCCATTGAAATCTTTCTGGTCTATATCGTCCCCCGAGCTGCC
ATCTTTCACAGTGATGACGCACTCAAGGAATCAGCAGCCATGCTAAATAACATGCGTGTC
TACGGCACAGCTTTCTTGGTCCTTATGGTATTAGTGGTATTTATCGGCGTACGCTATGTG
AACAAGTTTGCCTCACTTTTCCTGGCCTGTGTCATTGTGTCCATCTTGGCCATCTATGCT
GGAGCCATCAAGTCTTCTTTTGCTCCTCCACACTTCCCGGTCTGCATGCTGGGTAACCGC
ACTCTTTCATCAAGACACATTGACGTTTGCTCTAAGACCAAGGAAATTAACAACATGACA
GTCCCATCAAAGTTATGGGGATTCTTCTGTAACTCGAGTCAATTTTTCAATGCCACCTGT
GATGAATACTTTGTTCACAATAACGTCACTTCAATCCAGGGCATTCCTGGATTGGCTAGT
GGTATAATTACAGAGAATCTTTGGAGTAATTACCTACCCAAGGGAGAGATCATCGAAAAG
CCTTCAGCCAAATCTTCTGATGTCTTAGGCAGCTTAAACCATGAATATGTTCTTGTTGAC
ATCACCACCTCCTTCACGCTTCTGGTGGGAATCTTCTTTCCCTCTGTTACAGGTATCATG
GCTGGATCAAACAGATCTGGAGATCTGAAAGATGCTCAGAAGTCTATTCCGATTGGTACT
ATCCTTGCCATCCTGACCACCTCCTTTGTTTATTTAAGCAATGTTGTCCTTTTTGGTGCA
TGTATTGAAGGGGTTGTTCTCAGAGACAAGTTCGGTGATGCTGTGAAAGGTAATTTGGTG
GTAGGCACCTTATCTTGGCCATCCCCATGGGTGATTGTTATTGGCTCCTTCTTTTCAACA
TGTGGGGCTGGACTTCAGAGCCTCACAGGTGCACCGAGGCTGCTACAAGCTATTGCCAAG
GATAACATCATACCGTTTCTGAGGGTTTTTGGCCACAGCAAAGCCAATGGGGAACCTACC
TGGGCTTTACTTCTAACTGCTGCCATTGCAGAGCTTGGAATACTCATTGCCTCCCTGGAT
CTTGTGGCCCCAATTCTTTCCATGTTTTTTCTCATGTGTTACCTCTTTGTAAACTTGGCA
TGTGCCTTGCAAACATTACTTCGAACACCCAACTGGAGACCCCGATTCCGCTACTACCAT
TGGGCCCTTTCTTTCATGGGAATGAGTATCTGTCTGGCTCTGATGTTCATTTCTTCCTGG
TATTATGCCATTGTAGCCATGGTAATAGCTGGTATGATCTACAAGTACATTGAATACCAA
GGAGCTGAGAAAGAATGGGGTGATGGTATCCGTGGGCTGTCCCTCAGTGCAGCCCGGTTT
GCTTTGCTTCGATTGGAGGAAGGACCTCCACACACTAAAAACTGGAGGCCTCAGTTGCTT
GTATTACTGAAACTAGATGAAGACTTACATGTCAAGCATCCTCGCCTCCTCACCTTTGCC
TCACAGCTCAAAGCAGGAAAAGGTCTCACTATTGTGGGCTCTGTCATCGTGGGGAACTTC
CTAGAGAACTACGGTGAAGCTTTAGCTGCTGAGCAGACCATAAAGCACCTAATGGAGGCA
GAGAAGGTAAAAGGATTCTGCCAGCTGGTGGTGGCCGCCAAGCTGAGAGAGGGCATTTCC
CACCTCATCCAGTCATGTGGCCTTGGGGGCATGAAGCACAACACGGTGGTGATGGGCTGG
CCTAATGGCTGGCGTCAAAGCGAAGATGCCCGCGCTTGGAAGACTTTTATTGGCACAGTT
CGAGTGACAACTGCTGCCCATCTTGCACTGCTGGTGGCTAAAAACATCTCCTTCTTTCCC
AGCAATGTGGAGCAATTTTCTGAGGGCAACATTGATGTGTGGTGGATTGTGCATGATGGG
GGGATGCTTATGCTACTACCATTCCTACTGAAACAGCACAAGGTGTGGCGAAAGTGCAGC
ATACGGATCTTCACAGTAGCCCAATTAGAAGACAACAGTATCCAAATGAAGAAGGACCTA
GCCACCTTCCTATATCACTTACGCATTGAGGCGGAGGTAGAAGTGGTGGAGATGCATGAC
AGTGATATATCAGCATATACTTACGAGCGCACTTTGATGATGGAACAAAGGTCCCAGATG
CTTCGGCACATGCGGCTATCCAAAACAGAGCGAGACAGAGAGGCACAATTGGTGAAAGAC
CGAAACTCAATGCTACGATTGACCAGCATTGGCTCTGATGAGGACGAAGAGACAGAAACC
TATCAGGAGAAGGTGCACATGACTTGGACAAAAGACAAGTACATGGCATCCCGGGGACAA
AAAGCGAAGTCAATGGAAGGATTCCAGGACCTGCTTAACATGCGTCCGGACCAGTCCAAT
GTGAGGCGGATGCATACAGCAGTGAAACTCAACGAGGTTATAGTTAACAAGTCCCATGAA
GCAAAGCTGGTTTTATTGAATATGCCAGGGCCACCCCGAAACCCTGAGGGTGATGAAAAC
TACATGGAGTTCCTAGAGGTGCTTACCGAGGGACTAGAGCGAGTCCTACTTGTCCGGGGT
GGTGGCAGTGAAGTGATCACCATTTATTCATAA

1. Race JE, Makhlouf FN, Logue PJ, Wilson FH, Dunham PB, Holtzman EJ: Molecular cloning and functional characterization of KCC3, a new K-Cl cotransporter. Am J Physiol. 1999 Dec;277(6 Pt 1):C1210-9. [PubMed ]
2. Hiki K, D'Andrea RJ, Furze J, Crawford J, Woollatt E, Sutherland GR, Vadas MA, Gamble JR: Cloning, characterization, and chromosomal location of a novel human K+-Cl- cotransporter. J Biol Chem. 1999 Apr 9;274(15):10661-7. [PubMed ]
3. Mount DB, Mercado A, Song L, Xu J, George AL Jr, Delpire E, Gamba G: Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family. J Biol Chem. 1999 Jun 4;274(23):16355-62. [PubMed ]
4. Howard HC, Mount DB, Rochefort D, Byun N, Dupre N, Lu J, Fan X, Song L, Riviere JB, Prevost C, Horst J, Simonati A, Lemcke B, Welch R, England R, Zhan FQ, Mercado A, Siesser WB, George AL Jr, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau GA: The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nat Genet. 2002 Nov;32(3):384-92. Epub 2002 Oct 7. [PubMed ]
5. 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 ]
6. Casula S, Shmukler BE, Wilhelm S, Stuart-Tilley AK, Su W, Chernova MN, Brugnara C, Alper SL: A dominant negative mutant of the KCC1 K-Cl cotransporter: both N- and C-terminal cytoplasmic domains are required for K-Cl cotransport activity. J Biol Chem. 2001 Nov 9;276(45):41870-8. Epub 2001 Sep 10. [PubMed ]
7. 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 ]
8. 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. Electroneutral potassium-chloride cotransporter 4
2. K-Cl cotransporter 4

MPTNFTVVPVEAHADGGGDETAERTEAPGTPEGPEPERPSPGDGNPRENSPFLNNVEVEQ
ESFFEGKNMALFEEEMDSNPMVSSLLNKLANYTNLSQGVVEHEEDEESRRREAKAPRMGT
FIGVYLPCLQNILGVILFLRLTWIVGVAGVLESFLIVAMCCTCTMLTAISMSAIATNGVV
PAGGSYYMISRSLGPEFGGAVGLCFYLGTTFAGAMYILGTIEIFLTYISPGAAIFQAEAA
GGEAAAMLHNMRVYGTCTLVLMALVVFVGVKYVNKLALVFLACVVLSILAIYAGVIKSAF
DPPDIPVCLLGNRTLSRRSFDACVKAYGIHNNSATSALWGLFCNGSQPSAACDEYFIQNN
VTEIQGIPGAASGVFLENLWSTYAHAGAFVEKKGVPSVPVAEESRASALPYVLTDIAASF
TLLVGIYFPSVTGIMAGSNRSGDLKDAQKSIPTGTILAIVTTSFIYLSCIVLFGACIEGV
VLRDKFGEALQGNLVIGMLAWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAIARDGIVP
FLQVFGHGKANGEPTWALLLTVLICETGILIASLDSVAPILSMFFLMCYLFVNLACAVQT
LLRTPNWRPRFKFYHWTLSFLGMSLCLALMFICSWYYALSAMLIAGCIYKYIEYRGAEKE
WGDGIRGLSLNAARYALLRVEHGPPHTKNWRPQVLVMLNLDAEQAVKHPRLLSFTSQLKA
GKGLTIVGSVLEGTYLDKHMEAQRAEENIRSLMSTEKTKGFCQLVVSSSLRDGMSHLIQS
AGLGGLKHNTVLMAWPASWKQEDNPFSWKNFVDTVRDTTAAHQALLVAKNVDSFPQNQER
FGGGHIDVWWIVHDGGMLMLLPFLLRQHKVWRKCRMRIFTVAQVDDNSIQMKKDLQMFLY
HLRISAEVEVVEMVENDISAFTYERTLMMEQRSQMLKQMQLSKNEQEREAQLIHDRNTAS
HTAAAARTQAPPTPDKVQMTWTREKLIAEKYRSRDTSLSGFKDLFSMKPDQSNVRRMHTA
VKLNGVVLNKSQDAQLVLLNMPGPPKNRQGDENYMEFLEVLTEGLNRVLLVRGGGREVIT
IYS

• AA_permease (PF00324 )

• None

• 119-139 141-161 215-235 253-273 276-296 416-436 457-477 494-514 554-574 578-598 625-645 845-865

ATGCCCACCAACTTCACCGTGGTGCCCGTGGAGGCTCACGCCGACGGCGGCGGGGACGAG
ACTGCCGAGCGGACGGAGGCTCCGGGCACCCCCGAGGGCCCCGAGCCCGAGCGCCCCAGC
CCGGGAGATGGAAATCCAAGAGAAAACAGCCCATTCCTCAACAATGTCGAGGTGGAACAA
GAGAGCTTCTTTGAAGGGAAGAACATGGCACTTTTCGAGGAGGAGATGGACAGTAACCCC
ATGGTGTCCTCGCTGCTCAACAAGCTGGCCAACTACACCAACCTGAGCCAGGGCGTGGTG
GAGCACGAGGAGGACGAGGAGAGCCGGCGGCGGGAGGCCAAGGCTCCGCGCATGGGCACC
TTCATCGGCGTCTACCTGCCGTGCCTGCAGAACATCCTGGGCGTCATCCTCTTCCTGCGC
CTGACGTGGATCGTGGGGGTGGCTGGTGTCCTGGAGTCCTTCCTCATCGTGGCCATGTGC
TGCACATGTACAATGCTGACCGCCATTTCCATGAGTGCGATCGCTACCAACGGTGTGGTC
CCAGCTGGCGGGTCCTACTACATGATATCGCGCTCGCTGGGACCCGAGTTTGGAGGCGCT
GTCGGCCTCTGCTTCTACCTGGGCACGACGTTTGCAGGGGCCATGTATATTTTGGGGACC
ATCGAGATTTTTCTGACGTACATCTCCCCGGGTGCGGCCATCTTCCAGGCGGAGGCTGCA
GGTGGCGAGGCGGCCGCCATGCTGCACAACATGCGTGTGTACGGCACGTGCACGCTCGTG
CTCATGGCCCTGGTGGTCTTCGTGGGCGTCAAGTATGTCAACAAGCTGGCGCTGGTCTTC
CTGGCCTGCGTCGTGCTGTCCATCCTGGCCATCTATGCCGGCGTCATCAAGTCTGCCTTC
GACCCCCCGGACATCCCGGTCTGCCTCCTGGGGAACCGCACGCTGTCACGGCGCAGCTTC
GATGCCTGCGTCAAGGCCTACGGCATCCACAACAACTCAGCCACCTCCGCGCTCTGGGGC
CTCTTCTGCAACGGCTCCCAGCCCAGCGCCGCCTGTGACGAGTACTTCATCCAGAACAAC
GTCACCGAAATCCAGGGCATCCCGGGCGCGGCCAGTGGTGTCTTCCTGGAGAACCTGTGG
AGTACGTACGCGCACGCGGGGGCGTTTGTGGAGAAGAAAGGTGTGCCCTCGGTGCCCGTG
GCAGAGGAGAGCCGTGCCAGCGCACTGCCCTACGTGCTCACCGACATCGCGGCCTCCTTC
ACCCTGCTGGTTGGCATCTACTTCCCTTCCGTGACCGGTATCATGGCGGGTTCAAACCGG
TCCGGGGACCTCAAGGATGCACAGAAGTCCATCCCCACGGGGACCATCCTGGCCATAGTG
ACGACGTCTTTCATCTATCTCTCCTGCATTGTGCTGTTTGGGGCCTGCATTGAAGGCGTG
GTCTTACGAGATAAGTTCGGGGAGGCCCTGCAGGGGAACCTGGTCATCGGCATGCTGGCC
TGGCCCTCCCCCTGGGTCATCGTCATCGGCTCCTTCTTCTCCACCTGCGGTGCCGGCCTG
CAGAGCCTCACGGGGGCACCGCGCCTACTGCAGGCCATTGCCCGTGACGGCATCGTCCCC
TTCCTGCAGGTGTTTGGCCACGGGAAGGCCAACGGGGAGCCCACGTGGGCGCTGCTGCTG
ACAGTCCTCATCTGCGAGACTGGCATCCTCATCGCCTCTCTGGACAGCGTGGCCCCGATC
CTCTCCATGTTCTTCCTCATGTGCTACCTGTTCGTGAACCTGGCCTGCGCCGTGCAGACC
CTGCTACGTACCCCCAACTGGCGTCCACGCTTCAAGTTCTACCACTGGACCCTGTCCTTT
CTGGGTATGAGCCTGTGCCTGGCGCTGATGTTCATCTGCTCCTGGTACTACGCGCTGTCC
GCCATGCTCATCGCTGGCTGCATCTACAAGTACATCGAGTACCGCGGGGCCGAGAAGGAG
TGGGGCGATGGCATCCGTGGCCTATCCCTGAACGCCGCCCGCTACGCCCTGCTGCGCGTG
GAGCACGGTCCCCCCCACACCAAGAACTGGAGGCCCCAGGTGCTGGTGATGCTGAACCTG
GACGCGGAGCAGGCCGTGAAGCACCCCCGCCTGCTGTCCTTCACGTCGCAGCTGAAGGCC
GGCAAGGGCCTGACCATCGTGGGCTCGGTGCTGGAGGGGACGTACCTGGACAAGCACATG
GAGGCTCAGCGGGCCGAGGAGAACATACGGTCCCTAATGAGCACAGAGAAGACCAAGGGC
TTCTGCCAGCTGGTGGTCTCGTCCAGCCTGCGGGATGGCATGTCCCACCTGATCCAGTCG
GCCGGCCTGGGCGGCCTGAAGCACAACACGGTGCTCATGGCCTGGCCCGCATCCTGGAAG
CAGGAGGACAACCCCTTCTCCTGGAAGAACTTTGTGGACACCGTCCGCGACACCACCGCC
GCGCACCAGGCTCTGCTGGTGGCCAAGAACGTCGACTCGTTTCCGCAAAACCAGGAGCGC
TTCGGCGGGGGCCACATCGACGTGTGGTGGATCGTGCACGACGGCGGCATGCTCATGCTG
CTGCCCTTCCTGCTGCGCCAGCACAAGGTGTGGAGGAAGTGCCGGATGCGTATCTTCACC
GTGGCCCAGGTGGACGACAACAGCATCCAGATGAAGAAGGACCTGCAGATGTTCTTGTAC
CACTTGCGCATCAGCGCCGAGGTGGAGGTGGTGGAGATGGTTGAAAACGACATATCTGCT
TTCACCTACGAGAGGACACTAATGATGGAGCAGAGGTCGCAGATGCTGAAGCAGATGCAG
CTGTCCAAGAACGAGCAGGAGCGAGAGGCCCAGCTGATCCACGACAGGAACACCGCGTCC
CACACCGCGGCGGCAGCCAGGACCCAAGCGCCGCCTACGCCAGACAAGGTGCAGATGACC
TGGACCAGGGAGAAGCTGATCGCTGAGAAGTACAGGAGCAGAGACACCAGCCTATCTGGT
TTCAAAGACCTCTTCAGCATGAAGCCGGACCAGTCCAACGTCAGGCGGATGCACACGGCT
GTGAAGCTCAATGGCGTCGTCCTCAACAAGTCCCAGGATGCGCAGCTGGTCCTGCTCAAC
ATGCCAGGTCCTCCCAAAAACCGGCAGGGAGACGAGAACTACATGGAGTTTCTTGAAGTC
CTGACCGAGGGGCTGAACAGAGTCCTCCTGGTCAGGGGTGGCGGCCGGGAGGTGATCACC
ATCTACTCCTAA

1. Mount DB, Mercado A, Song L, Xu J, George AL Jr, Delpire E, Gamba G: Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family. J Biol Chem. 1999 Jun 4;274(23):16355-62. [PubMed ]
2. Schmutz J, Martin J, Terry A, Couronne O, Grimwood J, Lowry S, Gordon LA, Scott D, Xie G, Huang W, Hellsten U, Tran-Gyamfi M, She X, Prabhakar S, Aerts A, Altherr M, Bajorek E, Black S, Branscomb E, Caoile C, Challacombe JF, Chan YM, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Glavina T, Gomez M, Gonzales E, Goodstein D, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Lopez F, Lou Y, Martinez D, Medina C, Morgan J, Nandkeshwar R, Noonan JP, Pitluck S, Pollard M, Predki P, Priest J, Ramirez L, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wheeler J, Wu K, Yang J, Dickson M, Cheng JF, Eichler EE, Olsen A, Pennacchio LA, Rokhsar DS, Richardson P, Lucas SM, Myers RM, Rubin EM: The DNA sequence and comparative analysis of human chromosome 5. Nature. 2004 Sep 16;431(7006):268-74. [PubMed ]
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. Hattori A, Okumura K, Nagase T, Kikuno R, Hirosawa M, Ohara O: Characterization of long cDNA clones from human adult spleen. DNA Res. 2000 Dec 31;7(6):357-66. [PubMed ]
5. 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 ]
6. Mercado A, Song L, Vazquez N, Mount DB, Gamba G: Functional comparison of the K+-Cl- cotransporters KCC1 and KCC4. J Biol Chem. 2000 Sep 29;275(39):30326-34. [PubMed ]
7. 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 ]
8. 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. Na-Cl symporter
2. Thiazide-sensitive sodium-chloride cotransporter

MAELPTTETPGDATLCSGRFTISTLLSSDEPSPPAAYDSSHPSHLTHSSTFCMRTFGYNT
IDVVPTYEHYANSTQPGEPRKVRPTLADLHSFLKQEGRHLHALAFDSRPSHEMTDGLVEG
EAGTSSEKNPEEPVRFGWVKGVMIRCMLNIWGVILYLRLPWITAQAGIVLTWIIILLSVT
VTSITGLSISAISTNGKVKSGGTYFLISRSLGPELGGSIGLIFAFANAVGVAMHTVGFAE
TVRDLLQEYGAPIVDPINDIRIIGVVSVTVLLAISLAGMEWESKAQVLFFLVIMVSFANY
LVGTLIPPSEDKASKGFFSYRADIFVQNLVPDWRGPDGTFFGMFSIFFPSATGILAGANI
SGDLKDPAIAIPKGTLMAIFWTTISYLAISATIGSCVVRDASGVLNDTVTPGWGACEGLA
CSYGWNFTECTQQHSCHYGLINYYQTMSMVSGFAPLITAGIFGATLSSALACLVSAAKVF
QCLCEDQLYPLIGFFGKGYGKNKEPVRGYLLAYAIAVAFIIIAELNTIAPIISNFFLCSY
ALINFSCFHASITNSPGWRPSFQYYNKWAALFGAIISVVIMFLLTWWAALIAIGVVLFLL
LYVIYKKPEVNWGSSVQAGSYNLALSYSVGLNEVEDHIKNYRPQCLVLTGPPNFRPALVD
FVGTFTRNLSLMICGHVLIGPHKQRMPELQLIANGHTKWLNKRKIKAFYSDVIAEDLRRG
VQILMQAAGLGRMKPNILVVGFKKNWQSAHPATVEDYIGILHDAFDFNYGVCVMRMREGL
NVSKMMQAHINPVFDPAEDGKEASARVDPKALVKEEQATTIFQSEQGKKTIDIYWLFDDG
GLTLLIPYLLGRKRRWSKCKIRVFVGGQINRMDQERKAIISLLSKFRLGFHEVHILPDIN
QNPRAEHTKRFEDMIAPFRLNDGFKDEATVNEMRRDCPWKISDEEITKNRVKSLRQVRLN
EIVLDYSRDAALIVITLPIGRKGKCPSSLYMAWLETLSQDLRPPVILIRGNQENVLTFYC
Q

• AA_permease (PF00324 )
• AA_permease_N (PF08403 )

• None

• 136-156 159-179 219-239 262-282 287-307 340-360 378-398 453-473 512-532 535-555 578-598 661-681

ATGGCAGAACTGCCCACAACAGAGACGCCTGGGGACGCCACTTTGTGCAGCGGGCGCTTC
ACCATCAGCACACTGCTGAGCAGTGATGAGCCCTCTCCACCAGCTGCCTATGACAGCAGC
CACCCCAGCCACCTGACCCACAGCAGCACCTTCTGCATGCGCACCTTTGGCTACAACACG
ATCGATGTGGTGCCCACATATGAGCACTATGCCAACAGCACCCAGCCTGGTGAGCCCCGG
AAGGTCCGGCCCACACTGGCTGACCTGCACTCCTTCCTCAAGCAGGAAGGCAGACACCTG
CATGCCCTGGCCTTTGACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGC
GAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAG
GGGGTGATGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCC
TGGATTACGGCCCAGGCAGGCATCGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACG
GTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCA
GGTGGCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGC
CTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAG
ACCGTGCGGGACCTGCTCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATC
CGCATCATTGGCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAG
TGGGAGTCCAAGGCCCAGGTGCTGTTCTTCCTTGTCATCATGGTCTCCTTTGCCAACTAT
TTAGTGGGGACGCTGATCCCCCCATCTGAGGACAAGGCCTCCAAAGGCTTCTTCAGCTAC
CGGGCGGACATTTTTGTCCAGAACTTGGTGCCTGACTGGCGGGGTCCAGATGGCACCTTC
TTCGGAATGTTCTCCATCTTCTTCCCCTCGGCCACAGGCATCCTGGCAGGGGCCAACATA
TCTGGTGACCTCAAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTC
TGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGCTCCTGCGTGGTGCGTGAT
GCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCC
TGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTC
ATCAACTATTACCAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGC
ATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTC
CAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGC
AAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATC
ATCATCGCTGAGCTCAACACCATAGCCCCCATCATTTCCAACTTCTTCCTCTGCTCCTAT
GCCCTCATCAACTTCAGCTGCTTCCACGCCTCCATCACCAACTCGCCTGGGTGGAGACCT
TCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATC
ATGTTCCTCCTCACCTGGTGGGCGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTG
CTCTATGTCATCTACAAGAAGCCAGAGGTAAATTGGGGCTCCTCGGTACAGGCTGGCTCC
TACAACCTGGCCCTCAGCTACTCGGTGGGCCTCAATGAGGTGGAAGACCACATCAAGAAC
TACCGCCCCCAGTGCCTGGTGCTCACGGGGCCCCCCAACTTCCGCCCGGCCCTGGTGGAC
TTTGTGGGCACCTTCACCCGGAACCTCAGCCTGATGATCTGTGGCCACGTGCTCATCGGA
CCCCACAAGCAGAGGATGCCTGAGCTCCAGCTCATCGCCAACGGGCACACCAAGTGGCTG
AACAAGAGGAAGATCAAGGCCTTCTACTCGGATGTCATTGCCGAGGACCTCCGCAGAGGC
GTCCAGATCCTCATGCAGGCCGCAGGTCTCGGGAGAATGAAGCCCAACATTCTGGTGGTT
GGGTTCAAGAAGAACTGGCAGTCGGCTCACCCGGCCACAGTGGAAGACTACATTGGCATC
CTCCATGATGCCTTTGATTTCAACTATGGCGTGTGTGTCATGAGGATGCGGGAGGGACTC
AACGTGTCCAAGATGATGCAGGCGCACATTAACCCCGTGTTTGACCCAGCGGAGGACGGG
AAGGAAGCCAGCGCCAGAGTGGACCCCAAGGCCCTGGTGAAGGAGGAGCAGGCCACCACC
ATCTTCCAGTCGGAGCAGGGCAAGAAGACCATAGACATCTACTGGCTCTTTGACGATGGA
GGCCTCACCCTCCTCATTCCCTATCTCCTTGGCCGCAAGAGGAGGTGGAGCAAATGCAAG
ATCCGTGTGTTCGTAGGCGGCCAGATTAACAGGATGGACCAGGAGAGAAAGGCGATCATT
TCTCTGCTGAGCAAGTTCCGACTGGGATTCCATGAAGTCCACATCCTCCCTGACATCAAC
CAGAACCCTCGGGCTGAGCACACCAAGAGGTTTGAGGACATGATTGCACCCTTCCGTCTG
AATGATGGCTTCAAGGATGAGGCCACTGTCAACGAGATGCGGCGGGACTGCCCCTGGAAG
ATCTCAGATGAGGAGATTACGAAGAACAGAGTCAAGTCCCTTCGGCAGGTGAGGCTGAAT
GAGATTGTGCTGGATTACTCCCGAGACGCTGCTCTCATCGTCATCACTTTGCCCATAGGG
AGGAAGGGGAAGTGCCCCAGCTCGCTGTACATGGCCTGGCTGGAGACCCTGTCCCAGGAC
CTCAGACCTCCAGTCATCCTGATCCGAGGAAACCAGGAAAACGTGCTCACCTTTTACTGC
CAGTAA

1. Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet FE, Molina AM, Vaara I, Iwata F, Cushner HM, Koolen M, Gainza FJ, Gitleman HJ, Lifton RP: Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet. 1996 Jan;12(1):24-30. [PubMed ]
2. Mastroianni N, De Fusco M, Zollo M, Arrigo G, Zuffardi O, Bettinelli A, Ballabio A, Casari G: Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3). Genomics. 1996 Aug 1;35(3):486-93. [PubMed ]
3. Martin J, Han C, Gordon LA, Terry A, Prabhakar S, She X, Xie G, Hellsten U, Chan YM, Altherr M, Couronne O, Aerts A, Bajorek E, Black S, Blumer H, Branscomb E, Brown NC, Bruno WJ, Buckingham JM, Callen DF, Campbell CS, Campbell ML, Campbell EW, Caoile C, Challacombe JF, Chasteen LA, Chertkov O, Chi HC, Christensen M, Clark LM, Cohn JD, Denys M, Detter JC, Dickson M, Dimitrijevic-Bussod M, Escobar J, Fawcett JJ, Flowers D, Fotopulos D, Glavina T, Gomez M, Gonzales E, Goodstein D, Goodwin LA, Grady DL, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Hildebrand CE, Huang W, Israni S, Jett J, Jewett PB, Kadner K, Kimball H, Kobayashi A, Krawczyk MC, Leyba T, Longmire JL, Lopez F, Lou Y, Lowry S, Ludeman T, Manohar CF, Mark GA, McMurray KL, Meincke LJ, Morgan J, Moyzis RK, Mundt MO, Munk AC, Nandkeshwar RD, Pitluck S, Pollard M, Predki P, Parson-Quintana B, Ramirez L, Rash S, Retterer J, Ricke DO, Robinson DL, Rodriguez A, Salamov A, Saunders EH, Scott D, Shough T, Stallings RL, Stalvey M, Sutherland RD, Tapia R, Tesmer JG, Thayer N, Thompson LS, Tice H, Torney DC, Tran-Gyamfi M, Tsai M, Ulanovsky LE, Ustaszewska A, Vo N, White PS, Williams AL, Wills PL, Wu JR, Wu K, Yang J, Dejong P, Bruce D, Doggett NA, Deaven L, Schmutz J, Grimwood J, Richardson P, Rokhsar DS, Eichler EE, Gilna P, Lucas SM, Myers RM, Rubin EM, Pennacchio LA: The sequence and analysis of duplication-rich human chromosome 16. Nature. 2004 Dec 23;432(7020):988-94. [PubMed ]
4. Mastroianni N, Bettinelli A, Bianchetti M, Colussi G, De Fusco M, Sereni F, Ballabio A, Casari G: Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. Am J Hum Genet. 1996 Nov;59(5):1019-26. [PubMed ]
5. Takeuchi K, Kure S, Kato T, Taniyama Y, Takahashi N, Ikeda Y, Abe T, Narisawa K, Muramatsu Y, Abe K: Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman's syndrome. J Clin Endocrinol Metab. 1996 Dec;81(12):4496-9. [PubMed ]
6. Lemmink HH, Knoers NV, Karolyi L, van Dijk H, Niaudet P, Antignac C, Guay-Woodford LM, Goodyer PR, Carel JC, Hermes A, Seyberth HW, Monnens LA, van den Heuvel LP: Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain. Kidney Int. 1998 Sep;54(3):720-30. [PubMed ]
7. Melander O, Orho-Melander M, Bengtsson K, Lindblad U, Rastam L, Groop L, Hulthen UL: Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension. Hypertension. 2000 Sep;36(3):389-94. [PubMed ]
8. Monkawa T, Kurihara I, Kobayashi K, Hayashi M, Saruta T: Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome. J Am Soc Nephrol. 2000 Jan;11(1):65-70. [PubMed ]
9. Cruz DN, Shaer AJ, Bia MJ, Lifton RP, Simon DB: Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life. Kidney Int. 2001 Feb;59(2):710-7. [PubMed ]
10. Pantanetti P, Arnaldi G, Balercia G, Mantero F, Giacchetti G: Severe hypomagnesaemia-induced hypocalcaemia in a patient with Gitelman's syndrome. Clin Endocrinol (Oxf). 2002 Mar;56(3):413-8. [PubMed ]
11. Tajima T, Kobayashi Y, Abe S, Takahashi M, Konno M, Nakae J, Okuhara K, Satoh K, Ishikawa T, Imai T, Fujieda K: Two novel mutations of thiazide-sensitive Na-Cl cotrans porter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome. Endocr J. 2002 Feb;49(1):91-6. [PubMed ]
12. Syren ML, Tedeschi S, Cesareo L, Bellantuono R, Colussi G, Procaccio M, Ali A, Domenici R, Malberti F, Sprocati M, Sacco M, Miglietti N, Edefonti A, Sereni F, Casari G, Coviello DA, Bettinelli A: Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome. Hum Mutat. 2002 Jul;20(1):78. [PubMed ]
13. Maki N, Komatsuda A, Wakui H, Ohtani H, Kigawa A, Aiba N, Hamai K, Motegi M, Yamaguchi A, Imai H, Sawada K: Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome. Nephrol Dial Transplant. 2004 Jul;19(7):1761-6. Epub 2004 Apr 6. [PubMed ]
14. Lin SH, Shiang JC, Huang CC, Yang SS, Hsu YJ, Cheng CJ: Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome. J Clin Endocrinol Metab. 2005 May;90(5):2500-7. Epub 2005 Feb 1. [PubMed ]
15. Terui K, Shoji M, Yamashiki J, Hirai Y, Ishiguro A, Tsutaya S, Kageyama K, Yasujima M, Suda T: A novel mutation of the thiazide-sensitive sodium chloride cotransporter gene in a Japanese family with Gitelman syndrome. Clin Nephrol. 2006 Jan;65(1):57-60. [PubMed ]
16. Fava C, Montagnana M, Rosberg L, Burri P, Jonsson A, Wanby P, Wahrenberg H, Hulthen UL, Aurell M, Guidi GC, Melander O: Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes. DNA Seq. 2007 Oct;18(5):395-9. [PubMed ]
17. Aoi N, Nakayama T, Tahira Y, Haketa A, Yabuki M, Sekiyama T, Nakane C, Mano H, Kawachi H, Sato N, Soma M, Matsumoto K: Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman's syndrome. Endocrine. 2007 Apr;31(2):149-53. [PubMed ]
18. Keszei AP, Tisler A, Backx PH, Andrulis IL, Bull SB, Logan AG: Molecular variants of the thiazide-sensitive Na+-Cl- cotransporter in hypertensive families. J Hypertens. 2007 Oct;25(10):2074-81. [PubMed ]

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. Retinal glutamate transporter
2. Solute carrier family 1 member 7

MVPHAILARGRDVCRRNGLLILSVLSVIVGCLLGFFLRTRRLSPQEISYFQFPGELLMRM
LKMMILPLVVSSLMSGLASLDAKTSSRLGVLTVAYYLWTTFMAVIVGIFMVSIIHPGSAA
QKETTEQSGKPIMSSADALLDLIRNMFPANLVEATFKQYRTKTTPVVKSPKVAPEEAPPR
RILIYGVQEENGSHVQNFALDLTPPPEVVYKSEPGTSDGMNVLGIVFFSATMGIMLGRMG
DSGAPLVSFCQCLNESVMKIVAVAVWYFPFGIVFLIAGKILEMDDPRAVGKKLGFYSVTV
VCGLVLHGLFILPLLYFFITKKNPIVFIRGILQALLIALATSSSSATLPITFKCLLENNH
IDRRIARFVLPVGATINMDGTALYEAVAAIFIAQVNNYELDFGQIITISITATAASIGAA
GIPQAGLVTMVIVLTSVGLPTDDITLIIAVDWALDRFRTMINVLGDALAAGIMAHICRKD
FARDTGTEKLLPCETKPVSLQEIVAAQQNGCVKSVAEASELTLGPTCPHHVPVQVEQDEE
LPAASLNHCTIQISELETNV

• SDF (PF00375 )

• None

• 17-37 60-80 94-114 217-237 260-280 300-320 330-350 372-392 414-434 457-477

ATGGTGCCGCATGCCATCTTGGCACGGGGGAGGGACGTGTGCAGGCGGAATGGACTCCTC
ATCCTGTCTGTGCTGTCTGTCATCGTGGGCTGCCTCCTCGGCTTCTTCTTGAGGACCCGG
CGCCTCTCACCACAGGAAATTAGTTACTTCCAGTTCCCTGGAGAGCTCCTGATGAGGATG
CTGAAGATGATGATCCTGCCACTGGTGGTCTCCAGCTTGATGTCCGGACTTGCCTCCCTG
GATGCCAAGACCTCTAGCCGCCTGGGCGTCCTCACCGTGGCGTACTACCTGTGGACCACC
TTCATGGCTGTCATCGTGGGCATCTTCATGGTCTCCATCATCCACCCAGGCAGCGCGGCC
CAGAAGGAGACCACGGAGCAGAGTGGGAAGCCCATCATGAGCTCAGCCGATGCCCTGTTG
GACCTCATCCGGAACATGTTCCCAGCCAACCTAGTAGAAGCCACATTCAAACAGTACCGC
ACCAAGACCACCCCAGTTGTCAAGTCCCCCAAGGTGGCACCAGAGGAGGCCCCTCCTCGG
CGGATCCTCATCTACGGGGTCCAGGAGGAGAATGGCTCCCATGTGCAGAACTTCGCCCTG
GACCTGACCCCGCCGCCCGAGGTCGTTTACAAGTCAGAGCCGGGCACCAGCGATGGCATG
AATGTGCTGGGCATCGTCTTCTTCTCTGCCACCATGGGCATCATGCTGGGCCGCATGGGT
GACAGCGGGGCCCCCCTGGTCAGCTTCTGCCAGTGCCTCAATGAGTCGGTCATGAAGATC
GTGGCGGTGGCTGTGTGGTATTTCCCCTTCGGCATTGTGTTCCTCATTGCGGGTAAGATC
CTGGAGATGGACGACCCCAGGGCCGTCGGCAAGAAGCTGGGCTTCTACTCAGTCACCGTG
GTGTGCGGGCTGGTGCTCCACGGGCTCTTTATCCTGCCCCTGCTCTACTTCTTCATCACC
AAGAAGAATCCCATCGTCTTCATCCGTGGCATCCTGCAGGCTCTGCTCATCGCGCTGGCC
ACCTCCTCCAGCTCAGCCACACTGCCCATCACCTTCAAGTGCCTGCTGGAGAACAACCAC
ATCGACCGGCGCATCGCTCGCTTCGTGCTGCCCGTGGGTGCCACCATCAACATGGACGGC
ACTGCGCTCTACGAGGCTGTGGCCGCCATCTTCATCGCCCAGGTCAACAACTACGAGCTG
GACTTTGGCCAGATCATCACCATCAGTATCACAGCCACTGCAGCCAGCATTGGGGCAGCT
GGCATCCCCCAGGCCGGCCTCGTCACCATGGTCATCGTGCTCACCTCCGTGGGACTGCCC
ACCGATGACATCACCCTCATCATTGCCGTTGACTGGGCTCTGGACCGTTTCCGCACCATG
ATTAACGTGCTGGGTGATGCGCTGGCAGCGGGGATCATGGCCCATATATGTCGGAAGGAT
TTTGCCCGGGACACAGGCACCGAGAAACTGCTGCCCTGCGAGACCAAGCCAGTGAGCCTC
CAGGAGATCGTGGCAGCCCAGCAGAATGGCTGTGTGAAGAGTGTAGCCGAGGCCTCCGAG
CTCACCCTGGGCCCCACCTGCCCCCACCACGTCCCCGTTCAAGTGGAGCAGGATGAGGAG
CTGCCCGCTGCGAGTCTGAACCACTGCACCATCCAGATCAGTGAGCTGGAGACCAATGTC
TGA

1. Arriza JL, Eliasof S, Kavanaugh MP, Amara SG: Excitatory amino acid transporter 5, a retinal glutamate transporter coupled to a chloride conductance. Proc Natl Acad Sci U S A. 1997 Apr 15;94(8):4155-60. [PubMed ]
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. 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. 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. 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. Anion exchange transporter
2. Solute carrier family 26 member 8

MAQLERSAISGFSSKSRRNSFAYDVKREVYNEETFQQEHKRKASSSGNMNINITTFRHHV
QCRCSWHRFLRCVLTIFPFLEWMCMYRLKDWLLGDLLAGISVGLVQVPQGLTLSLLARQL
IPPLNIAYAAFCSSVIYVIFGSCHQMSIGSFFLVSALLINVLKVSPFNNGQLVMGSFVKN
EFSAPSYLMGYNKSLSVVATTTFLTGIIQLIMGVLGLGFIATYLPESAMSAYLAAVALHI
MLSQLTFIFGIMISFHAGPISFFYDIINYCVALPKANSTSILVFLTVVVALRINKCIRIS
FNQYPIEFPMELFLIIGFTVIANKISMATETSQTLIDMIPYSFLLPVTPDFSLLPKIILQ
AFSLSLVSSFLLIFLGKKIASLHNYSVNSNQDLIAIGLCNVVSSFFRSCVFTGAIARTII
QDKSGGRQQFASLVGAGVMLLLMVKMGHFFYTLPNAVLAGIILSNVIPYLETISNLPSLW
RQDQYDCALWMMTFSSSIFLGLDIGLIISVVSAFFITTVRSHRAKILLLGQIPNTNIYRS
INDYREIITIPGVKIFQCCSSITFVNVYYLKHKLLKEVDMVKVPLKEEEIFSLFNSSDTN
LQGGKICRCFCNCDDLEPLPRILYTERFENKLDPEASSINLIHCSHFESMNTSQTASEDQ
VPYTVSSVSQKNQGQQYEEVEEVWLPNNSSRNSSPGLPDVAESQGRRSLIPYSDASLLPS
VHTIILDFSMVHYVDSRGLVVLRQICNAFQNANILILIAGCHSSIVRAFERNDFFDAGIT
KTQLFLSVHDAVLFALSRKVIGSSELSIDESETVIRETYSETDKNDNSRYKMSSSFLGSQ
KNVSPGFIKIQQPVEEESELDLELESEQEAGLGLDLDLDRELEPEMEPKAETETKTQTEM
EPQPETEPEMEPNPKSRPRAHTFPQQRYWPMYHPSMASTQSQTQTRTWSVERRRHPMDSY
SPEGNSNEDV

• STAS (PF01740 )
• Sulfate_transp (PF00916 )

• None

• 96-116 120-140 147-167 203-223 233-253 271-291 308-328 356-376 393-413 430-450 453-473 498-518

ATGGCACAACTAGAGAGGAGCGCCATCTCTGGCTTCAGCTCTAAGTCCAGGCGAAACTCA
TTCGCATATGATGTTAAGCGTGAAGTATACAATGAGGAGACCTTTCAACAGGAACACAAA
AGGAAGGCCTCCTCTTCTGGGAACATGAACATCAACATCACCACCTTCAGACACCACGTC
CAGTGCCGCTGCTCATGGCACAGGTTCCTACGATGCATGCTTACAATCTTTCCCTTCCTA
GAATGGATGTGTATGTATCGATTAAAGGATTGGCTTCTGGGAGACTTACTTGCTGGTATA
AGTGTTGGCCTTGTGCAAGTTCCCCAAGGCCTGACACTTAGTTTGCTGGCAAGGCAACTG
ATTCCTCCTCTCAACATCGCTTATGCAGCTTTCTGTTCTTCGGTAATCTATGTAATTTTT
GGATCGTGTCATCAAATGTCCGTTGGTTCCTTCTTCCTGGTGAGTGCTCTGCTGATCAAC
GTTCTGAAAGTGAGCCCATTCGACAACGGTCAACTGGTCATGGGATCTTTCGTCAAGAAT
GAGTTTTCGGCCCCCTCCTACCTTATGGGCTATAATAAATCCTTGAGTGTGGTGGCAACC
ACAACTTTTCTGACTGGGATTATTCAGCTAATAATGGGCGTATTGGGTTTGGGCTTCATT
GCCACTTACCTTCCGGAGTCTGCAATGAATGCTTACCTGGCTGCTGTGGCACTTCATATC
ATGCTGTCCCAGCTGACTTTCATCTTTGGGATTATGATTAGTTTCCATGCCGGTCCCATC
TCCTTCTTCTATGACATAATTAATTACTGTGTAGCTCTCCCAAAAGCGAATTCCACCAGC
ATTCTAGTATTTCTAACTGTTGTTGTTGCTCTGCGAATCAACAAATGTATCAGAATTTCT
TTCAATCAGTATCCCATTGAGTTTCCCATGGAATTATTTCTGATTATTGGCTTCACTGTG
ATTGCAAACAAGATAAGCATGGCCACAGAAACCAGCCAGACGCTTATTGACATGATTCCT
TATAGCTTTCTGCTTCCTGTAACACCAGATTTCAGCCTTCTTCCCAAGATAATTTTACAA
GCCTTCTCCTTATCTTTGGTGAGCTCCTTTCTGCTCATATTTCTGGGCAAGAAGATTGCC
AGTCTTCACAATTACAGTGTCAATTCCAACCAGGATTTAATAGCCATCGGCCTTTGCAAT
GTCGTCAGTTCATTTTTCAGATCTTGTGTGTTTACTGGTGCTATTGCTAGGACTATTATC
CAGGATAAATCTGGAGGAAGACAACAGTTTGCATCTCTGGTAGGCGCAGGTGTGATGCTG
CTCCTGATGGTGAAGATGGGACACTTTTTCTACACACTGCCAAATGCTGTGCTGGCTGGT
ATTATTCTGAGCAACGTCATTCCCTACCTTGAAACCATTTCTAACCTACCCAGCCTGTGG
AGGCAGGACCAATATGACTGTGCTCTTTGGATGATGACATTCTCATCTTCAATTTTCCTG
GGACTGGACATTGGACTAATTATCTCAGTAGTTTCTGCTTTCTTCATCACCACTGTTCGT
TCACACAGAGCTAAGATTCTTCTCCTGGGTCAAATCCCTAACACCAACATTTATAGAAGC
ATCAATGATTATCGGGAGATCATCACCATTCCTGGGGTGAAAATCTTCCAGTGCTGCTGC
TCAATTACATTTGTAAATGTTTACTACCTAAAGCATAAGCTGTTAAAAGAGGTTGATATG
GTAAAGGTGCCTCTTAAAGAAGAAGAAATTTTCAGCTTGTTTAATTCAAGTGACACCAAT
CTACAAGGAGGAAAGATTTGCAGGTGTTTCTGCAACTGTGATGATCTGGAGCCGCTGCCC
AGGATTCTTTACACAGAGCGATTTGAAAATAAACTGGATCCCGAAGCATCCTCCGTTAAC
CTGATTCACTGCTCACATTTTGAGAGCATGAACACAAGCCAAACTGCATCCGAAGACCAA
GTGCCATACACAGTATCGTCTGTGTCTCAGAAAAATCAAGGGCAACAGTATGAGGAGGTG
GAAGAAGTTTGGCTTCCTAATAACTCATCAAGAAACAGCTCACCAGGACTGCCTGATGTG
GCGGAAAGCCAGGGGAGGAGATCACTCATCCCTTACTCAGATGCGTCTCTACTGCCCAGT
GTCCACACCATCATCCTGGATTTCTCCATGGTACACTACGTGGATTCACGGGGGTTAGTC
GTATTAAGACAGATATGCAATGCCTTTCAAAACGCCAACATTTTGATACTCATTGCAGGG
TGTCACTCTTCCATAGTCAGGGCATTTGAGAGGAATGATTTCTTTGACGCTGGCATCACC
AAGACCCAGCTGTTCCTCAGCGTTCACGACGCCGTGCTGTTTGCCTTGTCAAGGAAGGTC
ATAGGCTCCTCCGAGTTAAGCATCGATGAATCCGAGACAGTGATACGGGAAACCTACTCA
GAAACAGACAAGAATGACAATTCAAGATATAAAATGAGCAGCAGTTTTCTAGGAAGCCAA
AAAAATGTAAGTCCAGGCTTCATCAAGATCCAACAGCCTGTAGAAGAGGAGTCGGAGTTG
GATTTGGAGCTGGAATCAGAACAAGAGGCTGGGCTGGGTCTGGACCTAGACCTGGATCGG
GAGCTGGAGCCTGAAATGGAGCCCAAGGCTGAGACCGAGACCAAGACCCAGACCGAGATG
GAGCCCCAGCCTGAGACTGAGCCTGAGATGGAGCCCAACCCCAAATCTAGGCCAAGAGCT
CACACTTTTCCTCAGCAGCGTTACTGGCCTATGTATCATCCGTCTATGGCTTCCACCCAG
TCTCAGACTCAGACTCGGACATGGTCAGTGGAGAGGAGACGCCATCCTATGGATTCATAC
TCACCAGAGGGCAACAGCAATGAAGATGTCTAG

1. Toure A, Morin L, Pineau C, Becq F, Dorseuil O, Gacon G: Tat1, a novel sulfate transporter specifically expressed in human male germ cells and potentially linked to rhogtpase signaling. J Biol Chem. 2001 Jun 8;276(23):20309-15. Epub 2001 Mar 5. [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. Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L, Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J, Beck S: The DNA sequence and analysis of human chromosome 6. Nature. 2003 Oct 23;425(6960):805-11. [PubMed ]
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. Makela S, Eklund R, Lahdetie J, Mikkola M, Hovatta O, Kere J: Mutational analysis of the human SLC26A8 gene: exclusion as a candidate for male infertility due to primary spermatogenic failure. Mol Hum Reprod. 2005 Feb;11(2):129-32. Epub 2004 Dec 3. [PubMed ]
7. Toure A, Lhuillier P, Gossen JA, Kuil CW, Lhote D, Jegou B, Escalier D, Gacon G: The testis anion transporter 1 (Slc26a8) is required for sperm terminal differentiation and male fertility in the mouse. Hum Mol Genet. 2007 Aug 1;16(15):1783-93. Epub 2007 May 20. [PubMed ]

1. L-type amino acid transporter 4
2. Solute carrier family 43 member 2

MAPTLATAHRRRWWMACTAVLENLLFSAVLLGWGSLLIMLKSEGFYSYLCTEPENVTNGT
VGGTAEPGHEEVSWMNGWLSCQAQDEMLNLAFTVGSFLLSAITLPLGIVMDKYGPRKLRL
LGSACFAVSCLLIAYGASKPNALSVLIFIALALNGFGGMCMTFTSLTLPNMFGDLRSTFI
ALMIGSYASSAVTFPGIKLIYDAGVSFIVVLVVWAGCSGLVFLNCFFNWPLEPFPGPEDM
DYSVKIKFSWLGFDHKITGKQFYKQVTTVGRRLSVGSSMRSAKEQVALQEGHKLCLSTVD
LEVKCQPDAAVAPSFMHSVFSPILLLSLVTMCVTQLRLIFYMGAMNNILKFLVSGDQKTV
GLYTSIFGVLQLLCLLTAPVIGYIMDWRLKECEDASEEPEEKDANQGEKKKKKRDRQIQK
ITNAMRAFAFTNLLLVGFGVTCLIPNLPLQILSFILHTIVRGFIHSAVGGLYAAVYPSTQ
FGSLTGLQSLISALFALLQQPLFLAMMGPLQGDPLWVNVGLLLLSLLGFCLPLYLICYRR
QLERQLQQRQEDDKLFLKINGSSNQEAFV

• MFS_1 (PF07690 )

• None

• 20-40 90-110 120-140 143-163 177-197 203-223 323-345 365-385 435-455 462-482 490-510 516-536

ATGGCGCCCACCCTGGCCACTGCCCATCGGCGCCGCTGGTGGATGGCCTGCACGGCCGTG
CTGGAGAACCTCCTCTTCTCGGCAGTCCTCCTGGGCTGGGGCTCGCTGCTCATCATGCTC
AAGTCAGAGGGCTTTTACTCCTACCTGTGTACCGAGCCAGAGAATGTCACCAATGGCACA
GTGGGCGGCACAGCAGAGCCGGGGCACGAGGAGGTGAGCTGGATGAACGGCTGGCTCAGC
TGCCAGGCCCAGGACGAGATGCTAAATTTGGCCTTCACTGTGGGCTCCTTTCTGCTCAGT
GCCATCACCCTGCCCCTGGGTATCGTCATGGACAAGTATGGCCCGAGGAAGCTCAGGCTG
CTGGGCAGCGCCTGCTTCGCGGTTTCCTGCTTGCTGATTGCGTACGGAGCAAGTAAACCA
AACGCTCTCTCCGTGCTCATCTTCATCGCCCTGGCTCTGAATGGCTTTGGTGGGATGTGT
ATGACCTTCACCTCATTAACACTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATT
GCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGCTCATC
TATGATGCTGGTGTCTCCTTCATCGTCGTCCTCGTGGTCTGGGCCGGCTGCTCCGGGCTG
GTTTTCCTCAACTGCTTCTTTAACTGGCCCCTTGAGCCCTTCCCGGGGCCGGAGGACATG
GACTACTCGGTGAAGATCAAGTTCAGCTGGCTGGGCTTTGACCACAAGATCACAGGGAAG
CAGTTCTACAAGCAGGTGACCACGGTGGGCCGGCGCCTGAGTGTGGGCAGCTCCATGAGG
AGTGCCAAGGAGCAGGTGGCGCTGCAGGAGGGCCACAAGCTGTGCCTGTCCACCGTCGAC
CTGGAGGTGAAGTGCCAGCCGGATGCCGCAGTGGCCCCCTCCTTCATGCACAGCGTGTTC
AGCCCCATCCTGCTGCTCAGCCTGGTCACCATGTGCGTCACGCAGCTGCGGCTCATCTTC
TACATGGGGGCTATGAACAACATCCTCAAGTTCCTGGTCAGCGGCGACCAGAAGACAGTT
GGCCTCTACACCTCCATCTTCGGCGTGCTCCAGCTGCTGTGCCTGCTGACGGCCCCCGTC
ATTGGCTACATCATGGACTGGAGGCTGAAGGAGTGTGAAGACGCCTCCGAGGAGCCCGAG
GAGAAAGACGCCAACCAAGGCGAGAAGAAAAAGAAGAAGCGGGACCGGCAGATCCAGAAG
ATCACTAATGCCATGCGGGCCTTCGCCTTCACCAACCTGCTGCTCGTGGGCTTTGGGGTG
ACCTGCCTCATTCCCAACCTGCCTCTCCAGATCCTCTCCTTCATCCTGCACACAATCGTG
CGAGGATTCATCCACTCCGCTGTCGGGGGCCTGTACGCTGCCGTGTACCCCTCCACCCAG
TTCGGCAGCCTCACGGGACTGCAGTCTCTGATCAGCGCGCTCTTCGCCCTTCTGCAGCAG
CCGCTGTTTCTGGCCATGATGGGTCCTCTCCAGGGAGACCCTCTGTGGGTGAACGTGGGG
CTGCTCCTTCTCAGCCTGCTGGGCTTCTGCCTCCCGCTCTACCTGATCTGCTACCGGCGC
CAGCTGGAGCGGCAGCTGCAGCAGAGGCAGGAGGATGACAAACTCTTCCTCAAAATCAAC
GGCTCGTCCAACCAGGAGGCCTTCGTGTAG

1. Bodoy S, Martin L, Zorzano A, Palacin M, Estevez R, Bertran J: Identification of LAT4, a novel amino acid transporter with system L activity. J Biol Chem. 2005 Mar 25;280(12):12002-11. Epub 2005 Jan 19. [PubMed ]
2. Wan D, Gong Y, Qin W, Zhang P, Li J, Wei L, Zhou X, Li H, Qiu X, Zhong F, He L, Yu J, Yao G, Jiang H, Qian L, Yu Y, Shu H, Chen X, Xu H, Guo M, Pan Z, Chen Y, Ge C, Yang S, Gu J: Large-scale cDNA transfection screening for genes related to cancer development and progression. Proc Natl Acad Sci U S A. 2004 Nov 2;101(44):15724-9. Epub 2004 Oct 21. [PubMed ]
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. 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 ]
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. 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 ]
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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