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, somatic isoform precursor
6. Protein arginine N-methyltransferase 5
7. Salivary alpha-amylase precursor
8. Pancreatic alpha-amylase precursor
9. Cystic fibrosis transmembrane conductance regulator
10. Alpha-amylase 2B precursor
11. Metabotropic glutamate receptor 5 precursor
12. Gamma-aminobutyric-acid receptor subunit gamma-2 precursor
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, skeletal muscle
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. Putative anion transporter
30. Anion transporter
31. Putative anion transporter
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. Transmembrane protein 16K
40. Transmembrane protein 16A
41. Transmembrane protein 16B
42. Transmembrane protein 16C
43. Transmembrane protein 16D
44. Transmembrane protein 16E
45. Transmembrane protein 16F
46. Transmembrane protein 16G
47. Transmembrane protein 16H
48. Transmembrane protein 16J
49. cDNA FLJ78073, highly similar to Homo sapiens calcium-dependent chloride channel-1
50. Calcium activated chloride channel family member 2
51. Chloride channel, calcium activated, family member 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 precursor
56. Angiotensin-converting enzyme 2 precursor
57. Atrial natriuretic peptide clearance receptor precursor
58. Barttin
59. Dipeptidyl-peptidase 1 precursor
60. Chloride channel CLIC-like protein 1 precursor
61. Chloride channel protein ClC-Ka
62. Chloride channel protein ClC-Kb
63. Chloride channel protein 2
64. Chloride channel protein 3
65. Chloride channel protein 4
66. Chloride channel protein 5
67. Chloride channel protein 6
68. Chloride channel protein 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 6
75. Beta-defensin 104 precursor
76. FXYD domain-containing ion transport regulator 3 precursor
77. Gamma-aminobutyric acid receptor subunit alpha-1 precursor
78. Gamma-aminobutyric acid receptor subunit alpha-2 precursor
79. Gamma-aminobutyric acid receptor subunit alpha-3 precursor
80. Gamma-aminobutyric acid receptor subunit alpha-4 precursor
81. Gamma-aminobutyric acid receptor subunit alpha-5 precursor
82. Gamma-aminobutyric acid receptor subunit alpha-6 precursor
83. Gamma-aminobutyric acid receptor subunit beta-1 precursor
84. Gamma-aminobutyric acid receptor subunit beta-2 precursor
85. Gamma-aminobutyric acid receptor subunit beta-3 precursor
86. Gamma-aminobutyric acid receptor subunit delta precursor
87. Gamma-aminobutyric acid receptor subunit epsilon precursor
88. Gamma-aminobutyric acid receptor subunit gamma-1 precursor
89. Gamma-aminobutyric acid receptor subunit gamma-3 precursor
90. Gamma-aminobutyric acid receptor subunit pi precursor
91. Gamma-aminobutyric acid receptor subunit rho-1 precursor
92. Gamma-aminobutyric acid receptor subunit rho-2 precursor
93. Uncharacterized protein ENSP00000328115
94. Gamma-aminobutyric acid receptor subunit theta precursor
95. Glycine receptor subunit alpha-1 precursor
96. Glycine receptor subunit alpha-2 precursor
97. Glycine receptor subunit alpha-3 precursor
98. Glycine receptor subunit beta precursor
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. PDZ domain-containing protein 1
104. Solute carrier family 12 member 8
105. Sodium-dependent neutral amino acid transporter B(0)
106. Putative apical iodide transporter
107. Protein tweety homolog 1
108. Protein tweety homolog 2
109. Protein tweety homolog 3
110. Serine/threonine-protein kinase WNK1
111. Not Available
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

• Methyltransf_11 (PF08241 )

• 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. 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 ]

1. GST class-theta-1
2. Glutathione transferase T1-1

MGLELYLDLLSQPCRAVYIFAKKNDIPFELRIVDLIKGQHLSDAFAQVNPLKKVPALKDG
DFTLTESVAILLYLTRKYKVPDYWYPQDLQARARVDEYLAWQHTTLRRSCLRALWHKVMF
PVFLGEPVSPQTLAATLAELDVTLQLLEDKFLQNKAFLTGPHISLADLVAITELMHPVGA
GCQVFEGRPKLATWRQRVEAAVGEDLFQEAHEVILKAKDFPPADPTIKQKLMPWVLAMIR

• Glutathione Metabolism (map00480 )

• RX + glutathione = HX + R-S-glutathione

• GST_C (PF00043 )
• GST_N (PF02798 )

• 1-16

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. 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 ]
6. 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

• 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. 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. 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 ]
5. 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 ]
6. 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 ]
7. 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 ]
8. 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 ]
9. 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 ]

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

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

• 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. Verissimo F, Jordan P: WNK kinases, a novel protein kinase subfamily in multi-cellular organisms. Oncogene. 2001 Sep 6;20(39):5562-9. [PubMed ]

1. Dipeptidyl carboxypeptidase I
2. Kininase II
3. CD143 antigen[Contains: Angiotensin-converting enzyme, somatic isoform, 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

• Peptidase_M2 (PF01401 )

• 1-29

• 1260-1276

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

1. Soubrier F, Alhenc-Gelas F, Hubert C, Allegrini J, John M, Tregear G, Corvol P: Two putative active centers in human angiotensin I-converting enzyme revealed by molecular cloning. Proc Natl Acad Sci U S A. 1988 Dec;85(24):9386-90. [PubMed ]
2. Rieder MJ, Taylor SL, Clark AG, Nickerson DA: Sequence variation in the human angiotensin converting enzyme. Nat Genet. 1999 May;22(1):59-62. [PubMed ]
3. Takeuchi K, Shimizu T, Ohishi N, Seyama Y, Takaku F, Yotsumoto H: Purification of human lung angiotensin-converting enzyme by high-performance liquid chromatography: properties and N-terminal amino acid sequence. J Biochem (Tokyo). 1989 Sep;106(3):442-5. [PubMed ]
4. Ehlers MR, Riordan JF: Angiotensin-converting enzyme: zinc- and inhibitor-binding stoichiometries of the somatic and testis isozymes. Biochemistry. 1991 Jul 23;30(29):7118-26. [PubMed ]
5. Donoghue M, Hsieh F, Baronas E, Godbout K, Gosselin M, Stagliano N, Donovan M, Woolf B, Robison K, Jeyaseelan R, Breitbart RE, Acton S: A novel angiotensin-converting enzyme-related carboxypeptidase (ACE2) converts angiotensin I to angiotensin 1-9. Circ Res. 2000 Sep 1;87(5):E1-9. [PubMed ]
6. Tipnis SR, Hooper NM, Hyde R, Karran E, Christie G, Turner AJ: A human homolog of angiotensin-converting enzyme. Cloning and functional expression as a captopril-insensitive carboxypeptidase. J Biol Chem. 2000 Oct 27;275(43):33238-43. [PubMed ]
7. Harmer D, Gilbert M, Borman R, Clark KL: Quantitative mRNA expression profiling of ACE 2, a novel homologue of angiotensin converting enzyme. FEBS Lett. 2002 Dec 4;532(1-2):107-10. [PubMed ]
8. Halushka MK, Fan JB, Bentley K, Hsie L, Shen N, Weder A, Cooper R, Lipshutz R, Chakravarti A: Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nat Genet. 1999 Jul;22(3):239-47. [PubMed ]

1. Shk1 kinase-binding protein 1 homolog
2. SKB1Hs
3. Jak-binding protein 1
4. 72 kDa ICln-binding protein

MAAMAVGGAGGSRVSSGRDLNCVPEIADTLGAVAKQGFDFLCMPVFHPRFKREFIQEPAK
NRPGPQTRSDLLLSGRDWNTLIVGKLSPWIRPDSKVEKIRRNSEAAMLQELNFGAYLGLP
AFLLPLNQEDNTNLARVLTNHIHTGHHSSMFWMRVPLVAPEDLRDDIIENAPTTHTEEYS
GEEKTWMWWHNFRTLCDYSKRIAVALEIGADLPSNHVIDRWLGEPIKAAILPTSIFLTNK
KGFPVLSKMHQRLIFRLLKLEVQFIITGTNHHSEKEFCSYLQYLEYLSQNRPPPNAYELF
AKGYEDYLQSPLQPLMDNLESQTYEVFEKDPIKYSQYQQAIYKCLLDRVPEEEKDTNVQV
LMVLGAGRGPLVNASLRAAKQADRRIKLYAVEKNPNAVVTLENWQFEEWGSQVTVVSSDM
REWVAPEKADIIVSELLGSFADNELSPECLDGAQHFLKDDGVSIPGEYTSFLAPISSSKL
YNEVRACREKDRDPEAQFEMPYVVRLHNFHQLSAPQPCFTFSHPNRDPMIDNNRYCTLEF
PVEVNTVLHGFAGYFETVLYQDITLSIRPETHSPGMFSWFPILFPIKQPITVREGQTICV
RFWRCSNSKKVWYEWAVTAPVCSAIHNPTGRSYTIGL

• S-adenosyl-L-methionine + histone-arginine = S-adenosyl-L-homocysteine + histone-N(omega)-methyl-arginine

• PRMT5 (PF05185 )

• None

• None

ATGGCGGCGATGGCGGTCGGGGGTGCTGGTGGGAGCCGCGTGTCCAGCGGGAGGGACCTG
AATTGCGTCCCCGAAATAGCTGACACACTAGGGGCTGTGGCCAAGCAGGGGTTTGATTTC
CTCTGCATGCCTGTCTTCCATCCGCGTTTCAAGAGGGAGTTCATTCAGGAACCTGCTAAG
AATCGGCCCGGTCCCCAGACACGATCAGACCTACTGCTGTCAGGAAGGGACTGGAATACG
CTAATTGTGGGAAAGCTTTCTCCATGGATTCGTCCAGACTCAAAAGTGGAGAAAATTCGC
AGGAACTCCGAGGCGGCCATGTTACAGGAGCTGAATTTTGGTGCATATTTGGGTCTTCCA
GCTTTCCTGCTGCCCCTTAATCAGGAAGATAACACCAACCTGGCCAGAGTTTTGACCAAC
CACATCCACACTGGCCATCACTCTTCCATGTTCTGGATGCGGGTACCCTTGGTGGCACCA
GAGGACCTGAGAGATGATATAATTGAGAATGCACCAACTACACACACAGAGGAGTACAGT
GGGGAGGAGAAAACGTGGATGTGGTGGCACAACTTCCGGACTTTGTGTGACTATAGTAAG
AGGATTGCAGTGGCTCTTGAAATTGGGGCTGACCTCCCATCTAATCATGTCATTGATCGC
TGGCTTGGGGAGCCCATCAAAGCAGCCATTCTCCCCACTAGCATTTTCCTGACCAATAAG
AAGGGATTTCCTGTTCTTTTCAAGATGCACCAGAGGCTCATCTTCCGGCTCCTCAAGTTG
GAGGTGCAGTTCATCATCACAGGCACCAACCACCACTCAGAGAAGGAGTTCTGCTCCTAC
CTCCAATACCTGGAATACTTAAGCCAGAACCGTCCTCCACCTAATGCCTATGAACTCTTT
GCCAAGGGCTATGAAGACTATCTGCAGTCCCCGCTTCAGCCACTGATGGACAATCTGGAA
TCTCAGACATATGAAGTGTTTGAAAAGGACCCCATCAAATACTCTCAGTACCAGCAGGCC
ATCTATAAATGTCTGCTAGACCGAGTACCAGAAGAGGAGAAGGATACCAATGTCCAGGTA
CTGATGGTGCTGGGAGCAGGACGGGGACCCCTGGTGAACGCTTCCCTGCGGGCAGCCAAG
CAGGCCGACCGGCGGATAAAGCTGTATGCTGTGGAGAAAAACCCAAATGCCGTGGTGACG
CTAGAGAACTGGCAGTTTGAAGAATGGGGAAGCCAAGTGACCGTAGTCTCATCAGACATG
AGGGAATGGGTGGCTCCAGAGAAAGCAGACATCATTGTCAGTGAGCTTCTGGGCTCATTT
GCTGACAATGAATTGTCGCCTGAGTGCCTGGATGGAGCCCAGCACTTCCTAAAAGATGAT
GGTGTGAGCATCCCCGGGGAGTACACTTCCTTTCTGGCTCCCATCTCTTCCTCCAAGCTG
TACAATGAGGTCCGAGCCTGTAGGGAGAAGGACCGTGACCCTGAGGCCCAGTTTGAGATG
CCTTATGTGGTACGGCTGCACAACTTCCACCAGCTCTCTGCACCCCAGCCCTGTTTCACC
TTCAGCCATCCCAACAGAGATCCTATGATTGACAACAACCGCTATTGCACCTTGGAATTT
CCTGTGGAGGTGAACACAGTACTACATGGCTTTGCGGTCTACTTTGAGACTGTGCTTTAT
CAGGACATCACTCTGAGTATCCGTCCAGAGACTCACTCTCCTGGGATGTTCTCATGGTTT
CCCATCCTCTTCCCTATTAAGCAGCCCATAACGGTACGTGAAGGCCAAACCATCTGTGTG
CGTTTCTGGCGATGCAGCAATTCCAAGAAGGTGTGGTATGAGTGGGCTGTGACAGCACCA
GTCTGTTCTGCTATTCATAACCCCACAGGCCGCTCATATACCATTGGCCTCTAG

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 ]
2. Gilbreth M, Yang P, Bartholomeusz G, Pimental RA, Kansra S, Gadiraju R, Marcus S: Negative regulation of mitosis in fission yeast by the shk1 interacting protein skb1 and its human homolog, Skb1Hs. Proc Natl Acad Sci U S A. 1998 Dec 8;95(25):14781-6. [PubMed ]
3. Pollack BP, Kotenko SV, He W, Izotova LS, Barnoski BL, Pestka S: The human homologue of the yeast proteins Skb1 and Hsl7p interacts with Jak kinases and contains protein methyltransferase activity. J Biol Chem. 1999 Oct 29;274(44):31531-42. [PubMed ]
4. Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J: Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. Nat Biotechnol. 2003 May;21(5):566-9. Epub 2003 Mar 31. [PubMed ]
5. Schwarzler A, Kreienkamp HJ, Richter D: Interaction of the somatostatin receptor subtype 1 with the human homolog of the Shk1 kinase-binding protein from yeast. J Biol Chem. 2000 Mar 31;275(13):9557-62. [PubMed ]
6. Rho J, Choi S, Seong YR, Cho WK, Kim SH, Im DS: Prmt5, which forms distinct homo-oligomers, is a member of the protein-arginine methyltransferase family. J Biol Chem. 2001 Apr 6;276(14):11393-401. Epub 2001 Jan 10. [PubMed ]
7. Meister G, Eggert C, Buhler D, Brahms H, Kambach C, Fischer U: Methylation of Sm proteins by a complex containing PRMT5 and the putative U snRNP assembly factor pICln. Curr Biol. 2001 Dec 11;11(24):1990-4. [PubMed ]
8. Fabbrizio E, El Messaoudi S, Polanowska J, Paul C, Cook JR, Lee JH, Negre V, Rousset M, Pestka S, Le Cam A, Sardet C: Negative regulation of transcription by the type II arginine methyltransferase PRMT5. EMBO Rep. 2002 Jul;3(7):641-5. [PubMed ]
9. Kwak YT, Guo J, Prajapati S, Park KJ, Surabhi RM, Miller B, Gehrig P, Gaynor RB: Methylation of SPT5 regulates its interaction with RNA polymerase II and transcriptional elongation properties. Mol Cell. 2003 Apr;11(4):1055-66. [PubMed ]

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

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

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

• 1-15

ATGAAGCTCTTTTGGTTGCTTTTCACCATTGGGTTCTGCTGGGCTCAGTATTCCTCAAAT
ACACAACAAGGACGAACATCTATTGTTCATCTGTTTGAATGGCGATGGGTTGATATTGCT
CTTGAATGTGAGCGATATTTAGCTCCCAAGGGATTTGGAGGGGTTCAGGTCTCTCCACCA
AATGAAAATGTTGCCATTCACAACCCTTTCAGACCTTGGTGGGAAAGATACCAACCAGTT
AGCTATAAATTATGCACAAGATCTGGAAATGAAGATGAATTTAGAAACATGGTGACTAGA
TGCAACAATGTTGGGGTTCGTATTTATGTGGATGCTGTAATTAATCATATGTGTGGTAAT
GCTGTGAGTGCAGGAACAAGCAGTACCTGTGGAAGTTACTTCAACCCTGGAAGTAGGGAC
TTTCCAGCAGTCCCATATTCTGGATGGGATTTTAATGATGGTAAATGTAAAACTGGAAGT
GGAGATATCGAGAACTATAATGATGCTACTCAGGTCAGAGATTGTCGTCTGTCTGGTCTT
CTCGATCTTGCACTGGGGAAGGATTATGTGCGTTCTAAGATTGCCGAATATATGAACCAT
CTCATTGACATTGGTGTTGCAGGGTTCAGAATTGATGCTTCCAAGCACATGTGGCCTGGA
GACATAAAGGCAATTTTGGACAAACTGCATAATCTAAACAGTAACTGGTTCCCGGAAGGT
AGTAAACCTTTCATTTACCAGGAGGTAATTGATCTGGGTGGTGAGCCAATTAAAAGCAGT
GACTACTTTGGTAATGGCCGGGTGACAGAATTCAAGTATGGTGCAAAACTCGGCACAGTT
ATTCGCAAGTGGAATGGAGAGAAGATGTCTTACTTAAAGAACTGGGGAGAAGGTTGGGGT
TTCATGCCTTCTGACAGAGCGCTTGTCTTTGTGGATAACCATGACAATCAACGAGGACAT
GGCGCTGGAGGAGCCTCTATACTTACCTTCTGGGATGCTAGGCTGTACAAAATGGCAGTT
GGATTTATGCTTGCTCATCCTTATGGATTTACACGAGTAATGTCAAGCTACCGTTGGCCA
AGATATTTTGAAAATGGAAANGATGTTAATGATTGGGTTGGGCCACCAAATGATAATGGA
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. 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 ]
4. 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 ]
5. 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

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

• 1-15

ATGAAGTTCTTTCTGTTGCTTTTCACCATTGGGTTCTGCTGGGCTCAGTATTCCCCAAAT
ACACAACAAGGACGGACATCTATTGTTCATCTGTTTGAATGGCGATGGGTTGATATTGCT
CTTGAATGTGAGCGATATTTAGCTCCGAAGGGATTTGGAGGGGTTCAGGTCTCTCCACCA
AATGAAAATGTTGCAATTTACAACCCTTTCAGACCTTGGTGGGAAAGATACCAACCAGTT
AGCTATAAATTATGCACAAGATCTGGAAATGAAGATGAATTTAGAAACATGGTGACTAGA
TGTAACAATGTTGGGGTTCGTATTTATGTGGATGCTGTAATTAATCATATGTGTGGTAAC
GCTGTGAGTGCAGGAACAAGCAGTACCTGTGGAAGTTACTTCAACCCTGGAAGTAGGGAC
TTTCCAGCAGTCCCATATTCTGGATGGGATTTCAATGATGGTAAATGTAAAACTGGAAGT
GGAGATATCGAGAACTACAATGATGCTACTCAGGTCAGAGATTGTCGTCTGACTGGTCTT
CTTGATCTTGCACTGGAGAAGGATTACGTGCGTTCTAAGATTGCCGAATATATGAACCAT
CTCATTGACATTGGTGTTGCAGGGTTCAGACTTGATGCTTCCAAGCACATGTGGCCTGGA
GACATAAAGGCAATTTTGGACAAACTGCATAATCTAAACAGTAACTGGTTCCCTGCAGGA
AGTAAACCTTTCATTTACCAGGAGGTAATTGATCTGGGTGGTGAGCCAATTAAAAGCAGT
GACTACTTTGGTAATGGCCGGGTGACAGAATTCAAGTATGGTGCAAAACTCGGCACAGTT
ATTCGCAAGTGGAATGGAGAGAAGATGTCTTACTTAAAGAACTGGGGAGAAGGTTGGGGT
TTCGTACCTTCTGACAGAGCGCTTGTCTTTGTGGATAACCATGACAATCAACGAGGACAT
GGGGCTGGAGGAGCCTCTATTCTTACCTTCTGGGATGCTAGGCTGTACAAAATGGCAGTT
GGATTTATGCTTGCTCATCCTTACGGATTTACACGAGTAATGTCAAGCTACCGTTGGCCA
AGACAGTTTCAAAATGGAAACGATGTTAATGATTGGGTTGGGCCACCAAATAATAATGGA
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. 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 ]
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. 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 ]
7. 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 ]
8. 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 ]
9. 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 ]
10. 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 ]
11. 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. cAMP- dependent chloride channel
3. ATP-binding cassette transporter sub- family C member 7

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

• 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
GGAGCAGGCAAGACTTCACTTCTAATGATGATTATGGGAGAACTGGAGCCTTCAGAGGGT
AAAATTAAGCACAGTGGAAGAATTTCATTCTGTTCTCAGTTTTCCTGGATTATGCCTGGC
ACCATTAAAGAAAATATCATCTTTGGTGTTTCCTATGATGAATATAGATACAGAAGCGTC
ATCAAAGCATGCCAACTAGAAGAGGACATCTCCAAGTTTGCAGAGAAAGACAATATAGTT
CTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCAAGA
GCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTT
TTAACAGAAAAAGAAATATTTGAAAGCTGTGTCTGTAAACTGATGGCTAACAAAACTAGG
ATTTTGGTCACTTCTAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGAAT
GAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCCAAAATCTACAGCCAGACTTT
AGCTCAAAACTCATGGGATGTGATTCTTTCGACCAATTTAGTGCAGAAAGAAGAAATTCA
ATCCTAACTGAGACCTTACACCGTTTCTCATTAGAAGGAGATGCTCCTGTCTCCTGGACA
GAAACAAAAAAACAATCTTTTAAACAGACTGGAGAGTTTGGGGAAAAAAGGAAGAATTCT
ATTCTCAATCCAATCAACTCTATACGAAAATTTTCCATTGTGCAAAAGACTCCCTTACAA
ATGAATGGCATCGAAGAGGATTCTGATGAGCCTTTAGAGAGAAGGCTGTCCTTAGTACCA
GATTCTGAGCAGGGAGAGGCGATACTGCCTCGCATCAGCGTGATCAGCACTGGCCCCACG
CTTCAGGCACGAAGGAGGCAGTCTGTCCTGAACCTGATGACACACTCAGTTAACCAAGGT
CAGAACATTCACCGAAAGACAACAGCATCCACACGAAAAGTGTCACTGGCCCCTCAGGCA
AACTTGACTGAACTGGATATATATTCAAGAAGGTTATCTCAAGAAACTGGCTTGGAAATA
AGTGAAGAAATTAACGAAGAAGACTTAAAGGAGTGCCTTTTTGATGATATGGAGAGCATA
CCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATT
TTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAGAGGTGGCTGCTTCTTTGGTTGTG
CTGTGGCTCCTTGGAAACACTCCTCTTCAAGACAAAGGGAATAGTACTCATAGTAGAAAT
AACAGCTATGCAGTGATTATCACCAGCACCAGTTCGTATTATGTGTTTTACATTTACGTG
GGAGTAGCCGACACTTTGCTTGCTATGGGATTCTTCAGAGGTCTACCACTGGTGCATACT
CTAATCACAGTGTCGAAAATTTTACACCACAAAATGTTACATTCTGTTCTTCAAGCACCT
ATGTCAACCCTCAACACGTTGAAAGCAGGTGGGATTCTTAATAGATTCTCCAAAGATATA
GCAATTTTGGATGACCTTCTGCCTCTTACCATATTTGACTTCATCCAGTTGTTATTAATT
GTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTG
CCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTC
AAACAACTGGAATCTGAAGGCAGGAGTCCAATTTTCACTCATCTTGTTACAAGCTTAAAA
GGACTATGGACACTTCGTGCCTTCGGACGGCAGCCTTACTTTGAAACTCTGTTCCACAAA
GCTCTGAATTTACATACTGCCAACTGGTTCTTGTACCTGTCAACACTGCGCTGGTTCCAA
ATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTA
ACAACAGGAGAAGGAGAAGGAAGAGTTGGTATTATCCTGACTTTAGCCATGAATATCATG
AGTACATTGCAGTGGGCTGTAAACTCCAGCATAGATGTGGATAGCTTGATGCGATCTGTG
AGCCGAGTCTTTAAGTTCATTGACATGCCAACAGAAGGTAAACCTACCAAGTCAACCAAA
CCATACAAGAATGGCCAACTCTCGAAAGTTATGATTATTGAGAATTCACACGTGAAGAAA
GATGACATCTGGCCCTCAGGGGGCCAAATGACTGTCAAAGATCTCACAGCAAAATACACA
GAAGGTGGAAATGCCATATTAGAGAACATTTCCTTCTCAATAAGTCCTGGCCAGAGGGTG
GGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTA
CTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAA
CAGTGGAGGAAAGCCTTTGGAGTGATACCACAGAAAGTATTTATTTTTTCTGGAACATTT
AGAAAAAACTTGGATCCCTATGAACAGTGGAGTGATCAAGAAATATGGAAAGTTGCAGAT
GAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTG
GATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTT
CTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTAACA
TACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGT
GAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTTGGTCATAGAAGAGAACAAA
GTGCGGCAGTACGATTCCATCCAGAAACTGCTGAACGAGAGGAGCCTCTTCCGGCAAGCC
ATCAGCCCCTCCGACAGGGTGAAGCTCTTTCCCCACCGGAACTCAAGCAAGTGCAAGTCT
AAGCCCCAGATTGCTGCTCTGAAAGAGGAGACAGAAGAAGAGGTGCAAGATACAAGGCTT
TAG

1. Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, et al.: Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989 Sep 8;245(4922):1066-73. [PubMed ]
2. Zielenski J, Rozmahel R, Bozon D, Kerem B, Grzelczak Z, Riordan JR, Rommens J, Tsui LC: Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics. 1991 May;10(1):214-28. [PubMed ]
3. Hillier LW, Fulton RS, Fulton LA, Graves TA, Pepin KH, Wagner-McPherson C, Layman D, Maas J, Jaeger S, Walker R, Wylie K, Sekhon M, Becker MC, O'Laughlin MD, Schaller ME, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Cordes M, Du H, Sun H, Edwards J, Bradshaw-Cordum H, Ali J, Andrews S, Isak A, Vanbrunt A, Nguyen C, Du F, Lamar B, Courtney L, Kalicki J, Ozersky P, Bielicki L, Scott K, Holmes A, Harkins R, Harris A, Strong CM, Hou S, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Leonard S, Rohlfing T, Rock SM, Tin-Wollam AM, Abbott A, Minx P, Maupin R, Strowmatt C, Latreille P, Miller N, Johnson D, Murray J, Woessner JP, Wendl MC, Yang SP, Schultz BR, Wallis JW, Spieth J, Bieri TA, Nelson JO, Berkowicz N, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Bedell JA, Mardis ER, Clifton SW, Chissoe SL, Marra MA, Raymond C, Haugen E, Gillett W, Zhou Y, James R, Phelps K, Iadanoto S, Bubb K, Simms E, Levy R, Clendenning J, Kaul R, Kent WJ, Furey TS, Baertsch RA, Brent MR, Keibler E, Flicek P, Bork P, Suyama M, Bailey JA, Portnoy ME, Torrents D, Chinwalla AT, Gish WR, Eddy SR, McPherson JD, Olson MV, Eichler EE, Green ED, Waterston RH, Wilson RK: The DNA sequence of human chromosome 7. Nature. 2003 Jul 10;424(6945):157-64. [PubMed ]
4. Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Dohner H, Dohner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC: Human chromosome 7: DNA sequence and biology. Science. 2003 May 2;300(5620):767-72. Epub 2003 Apr 10. [PubMed ]
5. Picciotto MR, Cohn JA, Bertuzzi G, Greengard P, Nairn AC: Phosphorylation of the cystic fibrosis transmembrane conductance regulator. J Biol Chem. 1992 Jun 25;267(18):12742-52. [PubMed ]
6. Neville DC, Rozanas CR, Price EM, Gruis DB, Verkman AS, Townsend RR: Evidence for phosphorylation of serine 753 in CFTR using a novel metal-ion affinity resin and matrix-assisted laser desorption mass spectrometry. Protein Sci. 1997 Nov;6(11):2436-45. [PubMed ]
7. Cheng J, Moyer BD, Milewski M, Loffing J, Ikeda M, Mickle JE, Cutting GR, Li M, Stanton BA, Guggino WB: A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression. J Biol Chem. 2002 Feb 1;277(5):3520-9. Epub 2001 Nov 13. [PubMed ]
8. McIntosh I, Cutting GR: Cystic fibrosis transmembrane conductance regulator and the etiology and pathogenesis of cystic fibrosis. FASEB J. 1992 Jul;6(10):2775-82. [PubMed ]
9. Hoedemaeker FJ, Davidson AR, Rose DR: A model for the nucleotide-binding domains of ABC transporters based on the large domain of aspartate aminotransferase. Proteins. 1998 Feb 15;30(3):275-86. [PubMed ]
10. Karthikeyan S, Leung T, Ladias JA: Structural basis of the Na+/H+ exchanger regulatory factor PDZ1 interaction with the carboxyl-terminal region of the cystic fibrosis transmembrane conductance regulator. J Biol Chem. 2001 Jun 8;276(23):19683-6. Epub 2001 Apr 13. [PubMed ]
11. Tsui LC: Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium. Hum Mutat. 1992;1(3):197-203. [PubMed ]
12. Cutting GR, Kasch LM, Rosenstein BJ, Zielenski J, Tsui LC, Antonarakis SE, Kazazian HH Jr: A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Nature. 1990 Jul 26;346(6282):366-9. [PubMed ]
13. Kerem BS, Zielenski J, Markiewicz D, Bozon D, Gazit E, Yahav J, Kennedy D, Riordan JR, Collins FS, Rommens JM, et al.: Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci U S A. 1990 Nov;87(21):8447-51. [PubMed ]
14. White MB, Krueger LJ, Holsclaw DS Jr, Gerrard BC, Stewart C, Quittell L, Dolganov G, Baranov V, Ivaschenko T, Kapronov NI, et al.: Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT). Genomics. 1991 May;10(1):266-9. [PubMed ]
15. Jones CT, McIntosh I, Keston M, Ferguson A, Brock DJ: Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation. Hum Mol Genet. 1992 Apr;1(1):11-7. [PubMed ]
16. Cheadle JP, Meredith AL, al-Jader LN: A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene. Hum Mol Genet. 1992 May;1(2):123-5. [PubMed ]
17. Lissens W, Bonduelle M, Malfroot A, Dab I, Liebaers I: A serine to proline substitution (S1255P) in the second nucleotide binding fold of the cystic fibrosis gene. Hum Mol Genet. 1992 Sep;1(6):441-2. [PubMed ]
18. Shackleton S, Beards F, Harris A: Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP. Hum Mol Genet. 1992 Sep;1(6):439-40. [PubMed ]
19. Zielenski J, Fujiwara TM, Markiewicz D, Paradis AJ, Anacleto AI, Richards B, Schwartz RH, Klinger KW, Tsui LC, Morgan K: Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population. Am J Hum Genet. 1993 Mar;52(3):609-15. [PubMed ]
20. Mercier B, Lissens W, Novelli G, Kalaydjieva L, De Arce M, Kapranov N, Klain NC, Lenoir G, Chauveau P, Lenaerts C, et al.: Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene. Genomics. 1993 Apr;16(1):296-7. [PubMed ]
21. Nunes V, Chillon M, Dork T, Tummler B, Casals T, Estivill X: A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype. Hum Mol Genet. 1993 Jan;2(1):79-80. [PubMed ]
22. Chillon M, Casals T, Nunes V, Gimenez J, Perez Ruiz E, Estivill X: Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype. Hum Mol Genet. 1993 Oct;2(10):1741-2. [PubMed ]
23. Gasparini P, Marigo C, Bisceglia G, Nicolis E, Zelante L, Bombieri C, Borgo G, Pignatti PF, Cabrini G: Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes. Hum Mutat. 1993;2(5):389-94. [PubMed ]
24. Ghanem N, Costes B, Girodon E, Martin J, Fanen P, Goossens M: Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics. 1994 May 15;21(2):434-6. [PubMed ]
25. Boteva K, Papageorgiou E, Georgiou C, Angastiniotis M, Middleton LT, Constantinou-Deltas CD: Novel cystic fibrosis mutation associated with mild disease in Cypriot patients. Hum Genet. 1994 May;93(5):529-32. [PubMed ]
26. Dork T, Mekus F, Schmidt K, Bosshammer J, Fislage R, Heuer T, Dziadek V, Neumann T, Kalin N, Wulbrand U, et al.: Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients. Hum Genet. 1994 Nov;94(5):533-42. [PubMed ]
27. Greil I, Wagner K, Rosenkranz W: A new missense mutation G1249E in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Hum Hered. 1994 Jul-Aug;44(4):238-40. [PubMed ]
28. Petreska L, Koceva S, Gordova-Muratovska A, Nestorov R, Efremov GD: Identification of two new mutations (711 +3A-->G and V1397E) in CF chromosomes of Albanian and Macedonian origin. Hum Mol Genet. 1994 Jun;3(6):999-1000. [PubMed ]
29. Schaedel C, Kristoffersson AC, Kornfalt R, Holmberg L: A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR. Hum Mol Genet. 1994 Jun;3(6):1001-2. [PubMed ]
30. Chillon M, Casals T, Gimenez J, Nunes V, Estivill X: Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4). Hum Mutat. 1994;3(3):223-30. [PubMed ]
31. Bienvenu T, Petitpretz P, Beldjord C, Kaplan JC: A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene. Hum Mutat. 1994;3(4):395-6. [PubMed ]
32. Mercier B, Verlingue C, Lissens W, Silber SJ, Novelli G, Bonduelle M, Audrezet MP, Ferec C: Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. Am J Hum Genet. 1995 Jan;56(1):272-7. [PubMed ]
33. Jezequel P, Dorval I, Fergelot P, Chauvel B, Le Treut A, Le Gall JY, Le Lannou D, Blayau M: Structural analysis of CFTR gene in congenital bilateral absence of vas deferens. Clin Chem. 1995 Jun;41(6 Pt 1):833-5. [PubMed ]
34. Brancolini V, Cremonesi L, Belloni E, Pappalardo E, Bordoni R, Seia M, Russo S, Padoan R, Giunta A, Ferrari M: Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations. Hum Genet. 1995 Sep;96(3):312-8. [PubMed ]
35. Desgeorges M, Rodier M, Piot M, Demaille J, Claustres M: Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype. Hum Genet. 1995 Dec;96(6):717-20. [PubMed ]
36. Zielenski J, Markiewicz D, Chen HS, Schappert K, Seller A, Durie P, Corey M, Tsui LC: Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Hum Mutat. 1995;5(1):43-7. [PubMed ]
37. 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 ]
38. 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 ]
39. 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 ]
40. Ferec C, Novelli G, Verlingue C, Quere I, Dallapiccola B, Audrezet MP, Mercier B: Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients. Mol Cell Probes. 1995 Apr;9(2):135-7. [PubMed ]
41. Messaoud T, Verlingue C, Denamur E, Pascaud O, Quere I, Fattoum S, Elion J, Ferec C: Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations. Eur J Hum Genet. 1996;4(1):20-4. [PubMed ]
42. 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 ]
43. 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 ]
44. 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 ]
45. 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 ]
46. 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 ]
47. 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 ]
48. 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 ]
49. 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 ]
50. Shrimpton AE, Borowitz D, Swender P: Cystic fibrosis mutation frequencies in upstate New York. Hum Mutat. 1997;10(6):436-42. [PubMed ]
51. 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 ]
52. 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 ]
53. 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 ]
54. 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 ]
55. 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 ]
56. 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 ]
57. 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 ]
58. 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 ]
59. 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 ]
60. 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 ]

1. 1,4-alpha-D-glucan glucanohydrolase
2. Alpha-amylase carcinoid

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

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

• 1-15

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. 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 ]
4. 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 ]
5. 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 )
• 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
AGCCTAGTCAACCTGTGGAAGAGAAGGGGCTCCTCTGGGGAAACCTTAAGTTCCAATGGA
AAATCCGTCACGTGGGCCCAGAATGAGAAGAGCAGCCGGGGGCAGCACCTGTGGCAGCGC
CTGTCCATCCACATCAACAAGAAAGAAAACCCCAACCAAACGGCCGTCATCAAGCCCTTC
CCCAAGAGCACGGAGAGCCGTGGCCTGGGCGCTGGCGCTGGCGCAGGCGGGAGCGCTGGG
GGCGTGGGGGCCACGGGCGGTGCGGGCTGCGCAGGCGCCGGCCCAGGCGGGCCCGAGTCC
CCAGACGCCGGCCCCAAGGCGCTGTATGATGTGGCCGAGGCTGAGGAGCACTTCCCGGCG
CCCGCGCGGCCGCGCTCACCGTCGCCCATCAGCACGCTGAGCCACCGCGCGGGCTCGGCC
AGCCGCACGGACGACGATGTGCCGTCGCTGCACTCGGAGCCTGTGGCGCGCAGCAGCTCC
TCGCAGGGCTCCCTCATGGAGCAGATCAGCAGTGTGGTCACCCGCTTCACGGCCAACATC
AGCGAGCTCAACTCCATGATGCTGTCCACCGCGGCCCCCAGCCCCGGCGTCGGCGCCCCG
CTCTGCTCGTCCTACCTGATCCCCAAAGAGATCCAGTTGCCCACGACCATGACGACCTTT
GCCGAAATCCAGCCTCTGCCGGCCATCGAAGTCACGGGCGGCGCGCAGCCCGCGGCAGGG
GCGCAGGCGGCTGGGGACGCGGCCCGGGAGAGCCCCGCGGCCGGTCCCGAGGCTGCGGCC
GCCAAGCCAGACCTGGAGGAGCTGGTGGCTCTCACCCCGCCGTCCCCCTTCAGAGACTCG
GTGGACTCGGGGAGCACAACCCCCAACTCGCCAGTGTCCGAGTCGGCCCTCTGTATCCCG
TCGTCTCCCAAATATGACACTCTTATCATAAGAGATTACACTCAGAGCTCCTCGTCGTTG
TGA

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(Areceptor 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. 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 ]
3. 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 ]
4. 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 ]

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

MAFHVEGLIAIIVFYLLILLVGIWAAWRTKNSGSAEERSEAIIVGGRDIGLLVGGFTMTA
TWVGGGYINGTAEAVYVPGYGLAWAQAPIGYSLSLILGGLFFAKPMRSKGYVTMLDPFQQ
IYGKRMGGLLFIPALMGEMFWAAAIFSALGATISVIIDVDMHISVIISALIATLYTLVGG
LYSVAYTDVVQLFCIFVGLWISVPFALSHPAVADIGFTAVHAKYQKPWLGTVDSSEVYSW
LDSFLLLMLGGIPWQAYFQRVLSSSSATYAQVLSFLAAFGCLVMAIPAILIGAIGASTDW
NQTAYGLPDPKTTEEADMILPIVLQYLCPVYISFFGLGAVSAAVMSSADSSILSASSMFA
RNIYQLSFRQNASDKEIVWVMRITVFVFGASATAMALLTKTVYGLWYLSSDLVYIVIFPQ
LLCVLFVKGTNTYGAVAGYVSGLFLRITGGEPYLYLQPLIFYPGYYPDDNGIYNQKFPFK
TLAMVTSFLTNICISYLAKYLFESGTLPPKLDVFDAVVARHSEENMDKTILVKNENIKLD
ELALVKPRQSMTLSSTFTNKEAFLDVDSSPEGSGTEDNLQ

• SSF (PF00474 )

• 1-25

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 ]

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

MLNNLTDCEDGDGGANPGDGNPKESSPFINSTDTEKGKEYDGKNMALFEEEMDTSPMVSS
LLSGLANYTNLPQGSREHEEAENNEGGKKKPVQAPRMGTFMGVYLPCLQNIFGVILFLRL
TWVVGIAGIMESFCMVFICCSCTMLTAISMSAIATNGVVPAGGSYYMISRSLGPEFGGAV
GLCFYLGTTFAGAMYILGTIEILLAYLFPAMAIFKAEDASGEAAAMLNNMRVYGTCVLTC
MATVVFVGVKYVNKFALVFLGCVILSILAIYAGVIKSAFDPPNFPICLLGNRTLSRHGFD
VCAKLAWEGNETVTTRLWGLFCSSRFLNATCDEYFTRNNVTEIQGIPGAASGLIKENLWS
SYLTKGVIVERSGMTSVGLADGTPIDMDHPYVFSDMTSYFTLLVGIYFPSVTGIMAGSNR
SGDLRDAQKSIPTGTILAIATTSAVYISSVVLFGACIEGVVLRDKFGEAVNGNLVVGTLA
WPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAISRDGIVPFLQVFGHGKANGEPTWALLL
TACICEIGILIASLDEVAPILSMFFLMCYMFVNLACAVQTLLRTPNWRPRFRYYHWTLSF
LGMSLCLALMFICSWYYALVAMLIAGLIYKYIEYRGAEKEWGDGIRGLSLSAARYALLRL
EEGPPHTKNWRPQLLVLVRVDQDQNVVHPQLLSLTSQLKAGKGLTIVGSVLEGTFLENHP
QAQRAEESIRRLMEAEKVKGFCQVVISSNLRDGVSHLIQSGGLGGLQHNTVLVGWPRNWR
QKEDHQTWRNFIELVRETTAGHLALLVTKNVSMFPGNPERFSEGSIDVWWIVHDGGMLML
LPFLLRHHKVWRKCKMRIFTVAQMDDNSIQMKKDLTTFLYHLRITAEVEVVEMHESDISA
YTYEKTLVMEQRSQILKQMHLTKNEREREIQSITDESRGSIRRKNPANTRLRLNVPEETA
GDSEEKPEEEVQLIHDQSAPSCPSSSPSPGEEPEGEGETDPEKVHLTWTKDKSVAEKNKG
PSPVSSEGIKDFFSMKPEWENLNQSNVRRMHTAVRLNEVIVKKSRDAKLVLLNMPGPPRN
RNGDENYMEFLEVLTEHLDRVMLVRGGGREVITIYS

• AA_permease (PF00324 )

• None

• 111-131 133-153 172-192 194-214 232-252 255-275 396-416 436-456 474-494 547-567 608-628 825-845

ATGCCCAACAACCTGACGGACTGCGAGGACGGCGATGGGGGAGCCAACCCGGGTGATGGC
AACCCCAAGGAAAGCAGTCCCTTCATCAACAGCACCGACACAGAGAAGGGAAAGGAGTAT
GATGGCAAGAACATGGCCTTGTTTGAGGAGGAGATGGACACCAGCCCTATGGTGTCCTCC
TTGCTCAGTGGCCTGGCCAACTACACCAACCTGCCCCAGGGAAGTAGGGAGCATGAAGAG
GCAGAAAACAATGAGGGTGGAAAAAAGAAGCCGGTGCAGGCCCCACGCATGGGCACCTTC
ATGGGCGTGTACCTGCCGTGCCTGCAGAACATCTTTGGCGTCATCCTCTTCCTGCGGCTC
ACCTGGGTGGTGGGCATTGCAGGCATCATGGAGTCCTTCTGCATGGTGTTCATCTGCTGC
TCCTGTACGATGCTCACGGCCATCTCCATGAGTGCAATTGCAACGAATGGTGTTGTGCCT
GCTGGTGGCTCCTACTACATGATTTCCAGGTCTCTGGGCCCAGAGTTTGGGGGTGCCGTG
GGCCTCTGCTTCTACCTGGGCACTACCTTTGCAGGAGCCATGTACATCCTGGGCACCATC
GAAATCCTGCTGGCTTACCTCTTCCCAGCCATGGCCATCTTCAAGGCAGAAGATGCCAGT
GGGGAGGCAGCAGCCATGCTGAACAACATGCGTGTTTACGGCACCTGTGTGCTCACCTGC
ATGGCCACTGTGGTGTTTGTGGGTGTCAAGTATGTCAACAAGTTTGCCCTTGTCTTCCTG
GGTTGTGTCATCCTCTCCATCCTGGCCATCTATGCTGGGGTCATCAAGTCTGCCTTCGAC
CCACCCAACTTCCCGATCTGCCTCCTGGGTAACCGCACGCTGTCTCGCCATGGCTTTGAT
GTCTGTGCCAAGCTGGCTTGGGAAGGAAATGAGACGGTGACCACACGGCTATGGGGCCTT
TTCTGCTCCTCTCGCTTCCTCAACGCCACCTGTGATGAATACTTCACCCGAAACAATGTC
ACAGAGATCCAGGGCATCCCTGGTGCTGCCAGTGGCCTCATCAAAGAGAACCTCTGGAGC
TCCTACCTGACCAAGGGCGTGATTGTGGAGAGGAGTGGGATGACCTCGGTGGGCCTGGCC
GATGGCACTCCTATCGACATGGACCACCCTTATGTCTTCAGTGATATGACCTCCTACTTC
ACCCTGCTGGTTGGCATCTACTTCCCCTCAGTCACAGGGATCATGGCTGGTTCTAACCGC
TCTGGGGACCTGAGGGATGCCCAGAAGTCAATCCCCACTGGCACCATCCTGGCCATCGCC
ACCACCTCTGCTGTCTACATCAGCTCCGTTGTTCTGTTTGGGGCCTGCATTGAGGGGGTC
GTCCTGCGGGACAAGTTTGGCGAAGCTGTGAATGGCAACCTCGTGGTGGGCACTCTGGCC
TGGCCATCTCCATGGGTAATTGTCATCGGATCCTTCTTCTCCACCTGTGGGGCTGGGCTG
CAGAGCCTCACGGGGGCCCCACGCCTGCTGCAGGCCATCTCGAGGGATGGCATTGTGCCC
TTCCTGCAGGTCTTTGGCCATGGCAAGGCCAATGGAGAGCCGACCTGGGCCCTGCTCCTG
ACTGCCTGCATCTGCGAGATTGGCATCCTCATTGCATCCCTCGACGAGGTGGCCCCCATC
CTCTCTATGTTCTTCCTGATGTGCTACATGTTTGTGAATCTGGCCTGTGCAGTGCAGACG
CTGCTGAGGACACCCAACTGGAGGCCACGCTTTCGATATTACCACTGGACCCTCTCCTTC
CTGGGCATGAGCCTCTGCCTGGCCCTCATGTTCATCTGCTCCTGGTATTATGCACTGGTA
GCCATGCTCATTGCTGGACTCATCTACAAGTACATTGAGTACCGTGGGGCAGAGAAGGAG
TGGGGCGATGGGATACGAGGTCTGTCTCTCAGTGCGGCTCGCTATGCCCTCTTACGCCTG
GAGGAAGGGCCCCCACACACCAAGAACTGGAGGCCACAGCTGCTGGTGCTGGTGCGTGTG
GACCAAGACCAGAATGTGGTGCACCCCCAGCTGCTCTCACTGACCTCCCAGCTGAAGGCA
GGGAAGGGCCTGACCATCGTGGGCTCTGTCCTTGAGGGCACCTTTCTGGAAAATCATCCA
CAGGCCCAGCGGGCAGAAGAGTCTATCAGGCGCCTGATGGAGGCAGAGAAGGTGAAGGGC
TTCTGCCAGGTGGTGATCTCCTCCAACTTGCGTGATGGCGTGTCCCATCTGATCCAGTCC
GGGGGCCTCGGGGGGCTGCAGCACAACACTGTGCTTGTTGGCTGGCCCCGCAACTGGCGC
CAGAAGGAAGATCATCAGACGTGGAGGAACTTCATTGAGCTGGTCCGGGAAACCACAGCT
GGCCACTTAGCCCTGCTGGTCACCAAGAACGTTTCCATGTTTCCTGGGAACCCTGAGCGC
TTCTCTGAGGGCAGCATCGACGTTTGGTGGATTGTGCACGATGGAGGCATGCTCATGCTG
CTGCCCTTCCTGCTGCGGCACCACAAGGTCTGGCGGAAGTGCAAGATGCGTATCTTCACT
GTGGCCCAGATGGATGACAATAGCATCCAGATGAAGAAGGATCTGACCACATTTCTGTAT
CATTTACGCATCACTGCGGAGGTCGAGGTGGTGGAGATGCATGAGAGCGACATCTCAGCT
TACACCTATGAGAAGACGTTGGTGATGGAGCAGCGTTCCCAGATCCTCAAACAGATGCAT
TTAACCAAGAATGAGCGGGAGCGGGAGATCCAGAGTATCACAGATGAGTCACGAGGCTCA
ATCCGGAGAAAGAATCCAGCCAACACGCGGCTCCGCCTGAACGTCCCAGAAGAGACGGCT
GGTGACAGTGAAGAGAAGCCAGAGGAGGAGGTGCAGCTGATCCACGATCAGAGTGCTCCC
AGCTGCCCCAGCAGCTCCCCGTCCCCAGGGGAGGAGCCTGAGGGGGAAGGGGAGACAGAT
CCGGAGAAGGTGCATCTCACCTGGACCAAGGACAAGTCGGTGGCAGAGAAGAATAAGGGC
CCCAGTCCTGTCTCCTCTGAGGGCATCAAGGACTTCTTCAGCATGAAGCCGGAGTGGGAG
AACTTGAACCAGTCCAACGTGCGGCGCATGCACACGGCCGTGCGGCTGAACGAGGTCATC
GTGAAGAAATCCCGGGACGCCAAGCTTGTTTTGCTCAACATGCCTGGGCCTCCCCGCAAC
CGCAATGGTGATGAAAACTACATGGAGTTTCTCGAGGTCCTCACAGAGCACCTGGACCGG
GTGATGCTGGTCCGCGGTGGTGGCCGAGAGGTCATCACCATCTACTCCTGA

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. 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 ]

1. Voltage-gated potassium channel subunit Kv7.1
2. IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1
3. KQT-like 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. 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 ]
13. 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 ]
14. 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 ]
15. 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 ]
16. 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 ]
17. 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 ]
18. 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 ]
19. 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 ]
20. 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 ]
21. 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 ]
22. 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 ]
23. 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 ]
24. 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 ]
25. 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 ]
26. 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 ]
27. Priori SG, Napolitano C, Schwartz PJ: Low penetrance in the long-QT syndrome: clinical impact. Circulation. 1999 Feb 2;99(4):529-33. [PubMed ]
28. 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 ]
29. 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 ]
30. 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 ]
31. 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 ]
32. 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 ]
33. 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 ]
34. 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 ]

1. Chloride channel protein 1
2. ClC-1

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

• CBS (PF00571 )
• Voltage_CLC (PF00654 )

• None

• 118-137 159-182 206-227 235-254 266-290 305-323 348-368 391-414 456-475 478-496 524-545 553-572 839-857

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. 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 ]
3. 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 ]
4. 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 ]
5. 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 ]
6. 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 ]
7. 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 ]
8. 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 ]
9. 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 ]
10. 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 ]
11. 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 ]

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

• 216-236 241-261 289-309 318-338 370-390 414-435 441-461

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. 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. Brain transport protein PMAT

MGSVGSQRLEEPSVAGTPDPGVVMSFTFDSHQLEEAAEAAQGQGLRARGVPAFTDTTLDE
PVPDDRYHAIYFAMLLAGVGFLLPYNSFITDVDYLHHKYPGTSIVFDMSLTYILVALAAV
LLNNVLVERLTLHTRITAGYLLALGPLLFISICDVWLQLFSRDQAYAINLAAVGTVAFGC
TVQQSSFYGYTGMLPKRYTQGVMTGESTAGVMISLSRILTKLLLPDERASTLIFFLVSVA
LELLCFLLHLLVRRSRFVLFYTTRPRDSHRGRPGLGRGYGYRVHHDVVAGDVHFEHPAPA
LAPNESPKDSPAHEVTGSGGAYMRFDVPRPRVQRSWPTFRALLLHRYVVARVIWADMLSI
AVTYFITLCLFPGLESEIRHCILGEWLPILIMAVFNLSDFVGKILAALPVDWRGTHLLAC
SCLRVVFIPLFILCVYPSGMPALRHPAWPCIFSLLMGISNGYFGSVPMILAAGKVSPKQR
ELAGNTMTVSYMSGLTLGSAVAYCTYSLTRDAHGSCLHASTANGSILAGL

• Nucleoside_tran (PF01733 )

• None

• 67-89
• 104-126
• 138-160
• 165-187
• 230-252
• 352-374
• 381-400
• 415-437
• 450-472
• 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. 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 ]

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

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 ]

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 )

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

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. 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 ]
10. 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 ]
11. 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 ]
12. 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 ]
13. 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 ]
14. 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 ]
15. 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 ]
16. 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 ]
17. 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 ]
18. 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 ]

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

MSLNNSSNVFLDSVPSNTNRFQVSVINENHESSAAADDNTDPPHYEETSFGDEAQKRLRI
SFRPGNQECYDNFLHSGETAKTDASFHAYDSHTNTYYLQTFGHNTMDAVPKIEYYRNTGS
ISGPKVNRPSLLEIHEQLAKNVAVTPSSADRVANGDGIPGDEQAENKEDDQAGVVKFGWV
KGVLVRCMLNIWGVMLFIRLSWIVGEAGIGLGVIIIGLSTIVTTITGMSTSAIATNGVVR
GGGAYYLISRSLGPEFGGSIGLIFAFANAVAVAMYVVGFAETVVDLLKESDSMMVDPTND
IRIIGSITVVILLGISVAGMEWEAKAQVILLVILLIAIANFFIGTVIPSNNEKKSRGFFN
YQASIFAENFGPRFTKGEGFFSVFAIFFPAATGILAGANISGDLEDPQDAIPRGTMLAIF
ITTVAYLGVAICVGACVVRDATGNMNDTIISGMNCNGSAACGLGYDFSRCRHEPCQYGLM
NNFQVMSMVSGFGPLITAGIFSATLSSALASLVSAPKVFQALCKDNIYKALQFFAKGYGK
NNEPLRGYILTFLIAMAFILIAELNTIAPIISNFFLASYALINFSCFHASYAKSPGWRPA
YGIYNMWVSLFGAVLCCAVMFVINWWAAVITYVIEFFLYVYVTCKKPDVNWGSSTQALSY
VSALDNALELTTVEDHVKNFRPQCIVLTGGPMTRPALLDITHAFTKNSGLCICCEVFVGP
RKLCVKEMNSGMAKKQAWLIKNKIKAFYAAVAADCFRDGVRSLLQASGLGRMKPNTLVIG
YKKNWRKAPLTEIENYVGIIHDAFDFEIGVVIVRISQGFDISQVLQVQEELERLEQERLA
LEATIKDNECEEESGGIRGLFKKAGKLNITKTTPKKDGSINTSQSMHVGEFNQKLVEAST
QFKKKQEKGTIDVWWLFDDGGLTLLIPYILTLRKKWKDCKLRIYVGGKINRIEEEKIAMA
SLLSKFRIKFADIHIIGDINIRPNKESWKVFEEMIEPYRLHESCKDLTTAEKLKRETPWK
ITDAELEAVKEKSYRQVRLNELLQEHSRAANLIVLSLPVARKGSISDLLYMAWLEILTKN
LPPVLLVRGNHKNVLTFYS

• AA_permease (PF00324 )
• AA_permease_N (PF08403 )

• 1-631

• 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
AGCTTTAGGCCTGGGAATCAGGAGTGCTATGACAATTTCCTCCACAGTGGAGAAACTGCT
AAAACAGATGCCAGTTTTCACGCTTATGATTCTCACACAAACACATACTATCTACAAACT
TTTGGCCACAACACCATGGATGCCGTTCCCAAGATAGAGTACTATCGTAACACCGGCAGC
ATCAGTGGGCCCAAGGTCAACCGACCCAGCCTGCTTGAGATTCACGAGCAACTCGCAAAG
AATGTGGCAGTCACCCCAAGTTCAGCTGACAGAGTTGCTAACGGTGATGGGATACCTGGA
GATGAACAAGCTGAAAATAAGGAAGATGATCAAGCTGGTGTTGTGAAGTTTGGATGGGTG
AAAGGTGTGCTGGTAAGATGCATGCTGAACATCTGGGGAGTCATGCTCTTCATTCGCCTC
TCCTGGATTGTTGGAGAAGCTGGAATTGGTCTTGGAGTTATCATCATTGGCCTATCCACC
ATAGTAACGACAATCACAGGTATGTCCACGTCTGCTATTGCCACGAACGGAGTTGTTAGA
GGAGGTGGGGCCTACTATCTTATTTCCAGAAGTTTAGGGCCCGAGTTCGGTGGGTCAATA
GGCCTGATCTTTGCTTTTGCTAATGCAGTGGCTGTTGCTATGTATGTGGTGGGATTCGCT
GAAACTGTAGTAGATCTACTTAAGGAGAGTGATTCGATGATGGTGGATCCAACCAATGAC
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
TTAAGAATCTATGTGGGAGGGAAGATCAACCGCATTGAAGAAGAAAAAATTGCAATGGCT
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 ]

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 )

• 1-168

• 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. 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 ]
4. 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 ]

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 )

• 1-362

• 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
ACCCTTTCATCAAGACACATTGACGTTTGCTCTAAGACCAAGGAAATTAACAACATGACA
GTCCCATCAAAGTTATGGGGATTCTTCTGTAACTCGAGTCAATTTTTCAATGCCACCTGT
GATGAATACTTTGTTCACAATAACGTCACTTCAATCCAGGGCATTCCTGGATTGGCTAGT
GGTATAATTACAGAGAATCTTTGGAGTAATTACCTACCCAAGGGAGAGATCATCGAAAAG
CCTTCAGCCAAATCTTCTGATGTCTTAGGCAGCTTAAACCATGAATATGTTCTTGTTGAC
ATCACCACCTCCTTCACGCTTCTGGTGGGAATCTTCTTTCCCTCTGTTACAGGTATCATG
GCTGGATCAAACAGATCTGGAGATCTGAAAGATGCTCAGAAGTCTATTCCGATTGGTACT
ATCCTTGCCATCCTGACCACCTCCTTTGTTTATTTAAGCAATGTTGTCCTTTTTGGTGCA
TGTATTGAAGGGGTTGTTCTCAGAGACAAGTTCGGTGATGCTGTGAAAGGTAATTTGGTG
GTAGGCACCTTATCTTGGCCATCCCCATGGGTGATTGTTATTGGCTCCTTCTTTTCAACA
TGTGGGGCTGGACTTCAGAGCCTCACAGGTGCACCGAGGCTGCTACAAGCTATTGCCAAG
GATAACATCATACCGTTTCTGAGGGTTTTTGGCCACAGCAAAGCCAATGGGGAACCTACC
TGGGCTTTACTTCTAACTGCTGCCATTGCAGAGCTTGGAATACTCATTGCCTCCCTGGAT
CTTGTGGCCCCAATTCTTTCCATGTTTTTTCTCATGTGTTACCTCTTTGTAAACTTGGCA
TGTGCCTTGCAAACATTACTTCGAACACCCAACTGGAGACCCCGATTCCGCTACTACCAT
TGGGCCCTTTCTTTCATGGGAATGAGTATCTGTCTGGCTCTGATGTTCATTTCTTCCTGG
TATTATGCCATTGTAGCCATGGTAATAGCTGGTATGATCTACAAGTACATTGAATACCAA
GGAGCTGAGAAAGAATGGGGTGATGGTATCCGTGGGCTGTCCCTCAGTGCAGCCCGGTTT
GCTTTGCTTCGATTGGAGGAAGGACCTCCACACACTAAAAACTGGAGGCCTCAGTTGCTT
GTATTACTGAAACTAGATGAAGACTTACATGTCAAGCATCCTCGCCTCCTCACCTTTGCC
TCACAGCTCAAAGCAGGAAAAGGTCTCACTATTGTGGGCTCTGTCATCGTGGGGAACTTC
CTACACAACTACGGTGAAGCTTTAGCTGCTGAGCAGACCATAAAGCACCTAATGGAGGCA
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. 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 ]

1. Electroneutral potassium-chloride cotransporter 4
2. K-Cl cotransporter 4

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

• AA_permease (PF00324 )

• 1-640

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

ATGCCCACGAACTTTACGGTGGTGCCCGTGGAGGCTCACGCCGACGGCGGCGGGGACGAG
ACTGCCGAGCGGACGGAGGCTCCGGGCACCCCCGAGGGCCCCGAGCCCGAGCGCCCCAGC
CCGGGAGATGGAAATCCAAGAGAAAACAGCCCATTCCTCAACAATGTCGAGGTGGAACAA
GAGAGCTTCTTTGAAGGGAAGAACATGGCACTTTTCGAGGAGGAGATGGACAGTAACCCC
ATGGTGTCCTCGCTGCTCAACAAGCTGGCCAACTACACCAACCTGAGCCAGGGCGTGGTG
GAGCACGAGGAGGACGAGGAGAGCCGGCGGCGGGAGGCCAAGGCTCCGCGCATGGGCACC
TTCATCGGCGTCTACCTGCCGTGCCTGCAGAACATCCTGGGCGTCATCCTCTTCCTGCGC
CTGACGTGGATCGTGGGGGTGGCTGGTGTCCTGGAGTCCTTCCTCATCGTGGCCATGTGC
TGCACATGTACAATGCTGACCGCCATTTCCATGAGTGCGATCGCTACCAACGGTGTGGTC
CCAGCTGGCGGGTCCTACTACATGATATCGCGCTCGCTGGGACCCGAGTTTGGAGGCGCT
GTCGGCCTCTGCTTCTACCTGGGCACGACGTTTGCAGGGGCCATGTATATTTTGGGGACC
ATCGAGATTTTTCTGACGTACATCTCCCCGGGTGCGGCCATCTTCCAGGCGGAGGCTGCA
GGTGGCGAGGCGGCCGCCATGCTGCACAACATGCGTGTGTACGGCACGTGCACGCTCGTG
CTCATGGCCCTGGTGGTCTTCGTGGGCGTCAAGTATGTCAACAAGCTGGCGCTGGTCTTC
CTGGCCTGCGTCGTGCTGTCCATCCTGGCCATCTATGCCGGCGTCATCAAGTCTGCCTTC
GACCCCCCGGACATCCCGGTCTGCCTCCTGGGGAACCGCACGCTGTCACGGCGCAGCTTC
GATGCCTGCGTCAAGGCCTACGGCATCCACAACAACTCAGCCACCTCCGCGCTCTGGGGC
CTCTTCTGCAACGGCTCCCAGCCCAGCGCCGCCTGTGACGAGTACTTCATCCAGAACAAC
GTCACCGAAATCCAGGGCATCCCGGGCGCGGCCAGTGGTGTCTTCCTGGAGAACCTGTGG
AGTACGTACGCGCACGCGGGGGCGTTTGTGGAGAAGAAAGGTGTGCCCTCGGTGCCCGTG
GCAGAGGAGAGCCGTGCCAGCACACTGCCCTACGTGCTCACCGACATCGCGGCCTCCTTC
ACCCTGCTGGTTGGCATCTACTTCCCTTCCGTGACCGGTATCATGGCGGGTTCAAACCGG
TCCGGGGACCTCAAGGATGCACAGAAGTCCATCCCCACGGGGACCATCCTGGCCATAGTG
ACGACGTCTTTCATCTATCTCTCCTGCATTGTGCTGTTTGGGGCCTGCATTGAAGGCGTG
GTCTTACGAGATAAGTTCGGGGAGGCCCTGCAGGGGAACCTGGTCATCGGCATGCTGGCC
TGGCCCTCCCCCTGGGTCATCGTCATCGGCTCCTTCTTCTCCACCTGCGGTGCCGGCCTG
CAGACCCTCACGGGGGCACCGCGCCTACTGCAGGCCATTGCCCGTGACGGCATCGTCCCC
TTCCTGCAGGTGTTTGGCCACGGGAAGGCCAACGGGGAGCCCACGTGGGCGCTGCTGCTG
ACAGTCCTCATCTGCGAGACTGGCATCCTCATCGCCTCTCTGGACAGCGTGGCCCCGATC
CTCTCCATGTTCTTCCTCATGTGCTACCTGTTCGTGAACCTGGCCTGCGCCGTGCAGACC
CTGCTACGTACCCCCAACTGGCGTCCACGCTTCAAGTTCTACCACTGGACCCTGTCCTTT
CTGGGTATGAGCCTGTGCCTGGCGCTGATGTTCATCTGCTCCTGGTACTACGCGCTGTCC
GCCATGCTCATCGCTGGCTGCATCTACAAGTACATCGAGTACCGCGGGGCCGAGAAGGAG
TGGGGCGATGGCATCCGTGGCCTATCCCTGAACGCCGCCCGCTACGCCCTGCTGCGCGTG
GAGCACGGTCCCCCCCACACCAAGAACTGGAGGCCCCAGGTGCTGGTGATGCTGAACCTG
GACGCGGAGCAGGCCGTGAAGCACCCCCGCCTGCTGTCCTTCACGTCGCAGCTGAAGGCC
GGCAAGGGCCTGACCATCGTGGGCTCGGTGCTGGAGGGGACGTACCTGGACAAGCACATG
GAGGCTCAGCGGGCCGAGGAGAACATACGGTCCCTAATGAGCACAGAGAAGACCAAGGGC
TTCTGCCAGCTGGTGGTCTCGTCCAGCCTGCGGGATGGCATGTCCCACCTGATCCAGTCG
GCCGGCCTGGGCGGCCTGAAGCACAACACGGTGCTCATGGCCTGGCCCGCATCCTGGAAG
CAGGAGGACAACCCCTTCTCCTGGAAGAACTTTGTAGACACCGTCCGCGACACCACCGCC
GCGCACCAGGCTCTGCTGGTGGCCAAGAACGTCGACTCGTTTCCGCAAAACCAGGAGCGC
TTCGGCGGGGGCCACATCGACGTGTGGTGGATCGTGCACGACGGCGGCATGCTCATGCTG
CTGCCCTTCCTGCTGCGCCAGCACAAGGTGTGGAGGAAGTGCCGGATGCGTATCTTCACC
GTGGCCCAGGTGGACGACAACAGCATCCAGATGAAGAAGGACCTGCAGATGTTCTTGTAT
CACTTGCGCATCAGCGCCGAGGTGGAGGTGGTGGAGATGGTTGAAAACGACATATCTGCT
TTCACCTACGAGAGGACACTAATGATGGAGCAGAGGTCGCAGATGCTGAAGCAGATGCAG
CTGTCCAAGAACGAGCAGGAGCGAGAGGCCCAGCTGATCCACGACAGGAACACCGCGTCC
CACACCGCGGCGGCAGCCAGGACCCAAGCGCCGCCTACGCCAGACAAGGTGCAGATGACC
TGGACCAGGGAGAAGCTGATCGCTGAGAAGTACAGGAGCAGAGACACCAGCCTATCCGGT
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. 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 ]
3. 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 ]

1. Thiazide-sensitive sodium-chloride cotransporter
2. Na-Cl symporter

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

• AA_permease (PF00324 )
• AA_permease_N (PF08403 )

• 1-592

• 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
TTAGTGGGGACGCTGATCCCCCCATCTGAGGACAAGGCCTCCAAGGGCTTCTTCAGCTAC
CGGGCGGACATTTTTGTCCAGAACTTGGTGCCTGACTGGCGGGGTCCAGATGGCACCTTC
TTCGGAATGTTCTCCATCTTCTTCCCCTCGGCCACAGGCATCCTGGCAGGGGCCAACATA
TCTGGTGACCTCAAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTC
TGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGCTCCTGCGTGGTGCGTGAT
GCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCC
TGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTC
ATCAACTATTACCAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGC
ATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTC
CAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGC
AAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATC
ATCATCGCTGAGCTCAACACCATAGCCCCCATCATTTCCAACTTCTTCCTCTGCTCCTAT
GCCCTCATCAACTTCAGCTGCTTCCACGCCTCCATCACCAACTCGCCTGGGTGGAGACCT
TCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATC
ATGTTCCTCCTCACCTGGTGGGCGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTG
CTCTATGTCATCTACAAGAAGCCAGAGGTAAATTGGGGCTCCTCGGTACAGGCTGGCTCC
TACAACCTGGCCCTCAGCTACTCGGTGGGCCTCAATGAGGTGGAAGACCACATCAAGAAC
TACCGCCCCCAGTGCCTGGTGCTCACGGGGCCCCCCAACTTCCGCCCGGCCCTGGTGGAC
TTTGTGGGCACCTTCACCCGGAACCTCAGCCTGATGATCTGTGGCCACGTGCTCATCGGA
CCCCACAAGCAGAGGATGCCTGAGCTCCAGCTCATCGCCAACGGGCACACCAAGTGGCTG
AACAAGAGGAAGATCAAGGCCTTCTACTCGGATGTCATTGCCGAGGACCTCCGCAGAGGC
GTCCAGATCCTCATGCAGGCCGCAGGTCTCGGGAGAATGAAGCCCAACATTCTGGTGGTT
GGGTTCAAGAAGAACTGGCAGTCGGCTCACCCGGCCACAGTGGAAGACTACATTGGCATC
CTCCATGATGCCTTTGAGTTCAACTATGGCGTGTGTGTCATGAGGATGCGGGAGGGACTC
AACGTGTCCAAGATGATGCAGGCGCACATTAACCCCGTGTTTGACCCAGCGGAGGACGGG
AAGGAAGCCAGCGCCAGAGGTGCCAGGCCATCAGTCTCTGGCGCTTTGGACCCCAAGGCC
CTGGTGAAGGAGGAGCAGGCCACCACCATCTTCCAGTCGGAGCAGGGCAAGAAGACCATA
GACATCTACTGGCTCTTTGACGATGGAGGCCTCACCCTCCTCATTCCCTATCTCCTTGGC
CGCAAGAGGAGGTGGAGCAAATGCAAGATCCGTGTGTTCGTAGGCGGCCAGATTAACAGG
ATGGACCAGGAGAGAAAGGCGATCATTTCTCTGCTGAGCAAGTTCCGACTGGGATTCCAT
GAAGTCCACATCCTCCCTGACATCAACCAGAACCCTCGGGCTGAGCACACCAAGAGGTTT
GAGGACATGATTGCACCCTTCCGTCTGAATGATGGCTTCAAGGATGAGGCCACTGTCAAC
GAGATGCGGCGGGACTGCCCCTGGAAGATCTCAGATGAGGAGATTACGAAGAACAGAGTC
AAGTCCCTTCGGCAGGTGAGGCTGAATGAGATTGTGCTGGATTACTCCCGAGACGCTGCT
CTCATCGTCATCACTTTGCCCATAGGGAGGAAGGGGAAGTGCCCCAGCTCGCTGTACATG
GCCTGGCTGGAGACCCTGTCCCAGGACCTCAGACCTCCAGTCATCCTGATCCGAGGAAAC
CAGGAAAACGTGCTCACCTTTTACTGCCAGTAA

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 ]

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 )

• 1-877

• 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
ACTGTTGACTTTAGCAAGGTTGATCTGCATTTTATGAAAAAGATTCCTCCAGGTGCTGAA
GCATCGAACATCTTACTGGGAGAACTGGAGTTCTTGGATCGAACAGTAGTTGCGTTTGTC
AGGTTGTCTCCAGCTGTATTGCTTCAAGGACTGGCTGAAGTCCCAATCCCAACCAGATTT
TTGTTCATTCTTCTGGGACCCCTGGGAAAGGGTCAACAGTACCATGAGATTGGCAGATCA
ATTGCAACCCTAATGACAGATGAGGTATTTCATGATGTTGCCTATAAAGCTAAAGATCGT
AATGACTTGGTATCAGGAATTGATGAGTTTCTGGATCAGGTTACTGTTCTCCCTCCTGGA
GAATGGGATCCAAGCATTCGAATAGAGCCTCCCAAAAATGTTCCTTCCCAGGAGAAGAGG
AAGATTCCTGCTGTACCAAATGGAACAGCAGCTCATGGGGAAGCAGAGCCCCACGGAGGA
CATAGTGGACCTGAACTCCAGCGAACTGGAAGGATTTTTGGGGGACTTATTTTAGATATC
AAAAGAAAAGCTCCATACTTCTGGAGTGACTTCAGAGATGCTTTCAGCCTGCAGTGCTTA
GCATCTTTTCTATTTCTCTACTGCGCGTGTATGTCTCCTGTCATCACGTTTGGAGGACTG
CTGGGAGAAGCAACTGAAGGGCGTATAAGTGCAATTGAATCTCTCTTTGGAGCATCCATG
ACCGGGATAGCCTATTCTCTCTTTGGTGGACAGCCTCTTACCATATTAGGCAGTACAGGA
CCAGTTTTGGTGTTTGAAAAGATTTTGTTTAAATTTTGCAAAGAATATGGGCTGTCATAC
CTATCTTTAAGAGCTAGCATTGGACTTTGGACTGCAACTCTATGTATCATACTTGTGGCC
ACAGATGCTAGTTCCCTTGTCTGCTACATCACTCGGTTTACTGAAGAAGCTTTTGCTTCC
CTGATTTGCATCATTTTCATTTATGAGGCCCTGGAGAAGTTGTTTGAACTCAGTGAAGCA
TATCCAATCAACATGCATAATGATCTGGAACTGCTGACACAATACTCGTGTAACTGTGTG
GAACCGCATAATCCCAGCAATGGCACATTGAAGGAATGGAGGGAATCCAATATTTCTGCC
TCTGACATAATTTGGGAGAACCTAACTGTGTCAGAATGCAAATCATTGCATGGAGAGTAT
GTTGGACGGGCCTGTGGCCATGATCACCCATATGTTCCAGATGTTCTATTTTGGTCTGTG
ATCCTGTTCTTTTCCACAGTTACTCTGTCAGCCACCCTGAAGCAGTTCAAGACTAGCAGA
TATTTTCCAACCAAGGTTCGATCCATAGTGAGTGACTTTGCTGTCTTTCTTACAATTCTG
TGTATGGTTTTAATTGACTATGCCATTGGGATCCCATCTCCAAAACTACAAGTACCAAGT
GTTTTCAAGCCCACTAGAGATGATCGTGGCTGGTTTGTTACGCCTTTAGGTCCAAACCCA
TGGTGGACAGTAATAGCTGCTATAATTCCAGCTCTGCTTTGTACTATTCTAATTTTCATG
GACCAACAGATTACAGCTGTCATCATCAACAGGAAAGAGCATAAGCTAAAGAAAGGTTGT
GGGTACCATCTGGACCTATTAATGGTGGCTGTCATGCTCGGTGTATGCTCCATCATGGGC
CTGCCATGGTTTGTGGCTGCCACAGTCCTCTCCATCACTCATGTCAATAGCCTAAAACTG
GAATCAGAATGCTCAGCTCCAGGAGAACAACCCAAATTTCTCGGCATTCGGGAGCAAAGG
GTTACTGGGCTTATGATTTTTATTCTTATGGGTTCATCAGTCTTTATGACCAGTATTCTG
AAGTTTATTCCCATGCCAGTGCTATATGGAGTGTTTCTTTATATGGGTGCTTCATCTCTA
AAGGGAATTCAGTTCTTTGATAGGATAAAGCTCTTCTGGATGCCGGCAAAACATCAACCA
GATTTTATATACCTAAGGCACGTACCGCTTCGAAAAGTGCATCTCTTCACAATTATTCAG
ATGAGTTGCCTTGGCCTTTTGTGGATAATAAAAGTTTCAAGAGCTGCTATTGTCTCTCCC
ATGATGGTGTTATCCCTGGTTTTTGTAAGAAAGTTGATGGACTTGTTGTTCACGAAACGG
GAACTCTGCTGGTTGGATGATTTGATGCCTGAGAGTAAGAAAAAGAAACTGGAATATGCT
GAAAAAGAAGAAGAACAATGTGTGCTACCTATGGAAGATGAGGGCACAGTACAACTCCCA
TTGGAAGGGCACTATAGAGATGATCCATCTGTGATCAATATATCTGATGAAATGTCAAAG
ACTGCCTTGTGGAGGAACCTTCTGATTACTGCCGATAACTCAAAAGATAAGGAGTCAAGC
TTTCCTTCCAAAAGCTCCCCTTCCTAA

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 ]

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

MVPHTILARGRDVCRRNGLLILSVLSVIVGCLLGFFLRTRRLSPQEISYFQFPGELLMRM
LKMMILPLVFSSLMSGLASLDAKTSSRLGVLTVAYYLWTTFMAVIVGIFMVSIIHPGSAA
QKETTEQSGKPIMSSADALLDLIRNMFPANLVEATFKQYRTKTTPVVKSPKVAPEEAPPR
RILIYGVQEENGSHVQNFALDLTPPPEVVYKSEPGTSDGMNVLGIVFFSATMGIMLGRMG
DSGGPLVSFCQCLNESVMKIVAVAVWYFPFGIVFLIAGKILEMDDPRAVGKKLGFYSVTV
VCGLVLHGLFILPLLYFFITKKNPIVFIRGILQALLIALATSSSSATLPITFKCLLENNH
IDRRIARFVLPVGATINMDGTALYEAVAAIFIAQVNNYELDFGQIITISITGTAASIGAA
GIPQAGLVTMVIVLTSVGLPTDDITLIIGVDWALDRFRTMINVLGDALAAGIMAHICRKD
FARDTGTEKLLPCETKPVSLQEIVAAQQNGCVKSVAEASELTLGPTCPHHVPVQVERDEE
LPAASLNHCTIQISELETNV

• SDF (PF00375 )

• 1-34

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

ATGGTGCCGCATACCATCTTGGCACGGGGGAGGGACGTGTGCAGGCGGAATGGACTCCTC
ATCCTGTCTGTGCTGTCTGTCATCGTGGGCTGCCTCCTCGGCTTCTTCTTGAGGACCCGG
CGCCTCTCACCACAGGAAATTAGTTACTTCCAGTTCCCCGGAGAGCTCCTGATGAGGATG
CTGAAGATGATGATCCTGCCACTGGTGTTCTCCAGCTTGATGTCCGGACTTGCCTCCCTG
GATGCCAAGACCTCTAGCCGCCTGGGCGTCCTCACCGTGGCGTACTACCTGTGGACCACC
TTCATGGCTGTCATCGTGGGCATCTTCATGGTCTCCATCATCCACCCAGGCAGCGCGGCC
CAGAAGGAGACCACGGAGCAGAGTGGGAAGCCCATCATGAGCTCAGCCGATGCCCTGTTG
GACCTCATCCGGAACATGTTCCCAGCCAACCTAGTAGAAGCCACATTCAAACAGTACCGC
ACCAAGACCACCCCAGTTGTCAAGTCCCCCAAGGTGGCACCAGAGGAGGCCCCTCCTCGG
CGGATCCTCATCTACGGGGTCCAGGAGGAGAATGGCTCCCATGTGCAGAACTTCGCCCTG
GACCTGACCCCGCCGCCCGAGGTCGTTTACAAGTCAGAGCCGGGCACCAGCGATGGCATG
AATGTGCTGGGCATCGTCTTCTTCTCTGCCACCATGGGCATCATGCTGGGCCGCATGGGT
GACAGCGGGGGCCCCCTGGTCAGCTTCTGCCAGTGCCTCAATGAGTCGGTCATGAAGATC
GTGGCGGTGGCTGTGTGGTATTTCCCCTTCGGCATTGTGTTCCTCATTGCGGGTAAGATC
CTGGAGATGGACGACCCCAGGGCCGTCGGCAAGAAGCTGGGCTTCTACTCAGTCACCGTG
GTGTGCGGGCTGGTGCTCCACGGGCTCTTTATCCTGCCCCTGCTCTACTTCTTCATCACC
AAGAAGAATCCCATCGTCTTCATCCGCGGCATCCTGCAGGCTCTGCTCATCGCGCTGGCC
ACCTCCTCCAGCTCAGCCACACTGCCCATCACCTTCAAGTGCCTGCTGGAGAACAACCAC
ATCGACCGGCGCATCGCTCGCTTCGTGCTGCCCGTGGGTGCCACCATCAACATGGACGGC
ACTGCGCTCTACGAGGCTGTGGCCGCCATCTTCATCGCCCAGGTCAACAACTACGAGCTG
GACTTTGGCCAGATCATCACCATCAGTATCACAGGCACTGCAGCCAGCATTGGGGCAGCT
GGCATCCCCCAGGCCGGCCTCGTCACCATGGTCATCGTGCTCACCTCCGTGGGACTGCCC
ACCGATGACATCACCCTCATCATTGGCGTTGACTGGGCTCTGGACCGTTTCCGCACCATG
ATTAACGTGCTGGGTGATGCGCTGGCAGCGGGGATCATGGCCCATATATGTCGGAAGGAT
TTTGCCCGGGACACAGGCACCGAGAAACTGCTGCCCTGCGAGACCAAGCCAGTGAGCCTC
CAGGAGATCGTGGCAGCCCAGCAGAATGGCTGTGTGAAGAGTGTAGCCGAGGCCTCCGAG
CTCACCCTGGGCCCCACCTGCCCCCACCACGTCCCCGTTCAAGTGGAGCGGGATGAGGAG
CTGCCCGCTGCGAGTCTGAACCACTGCACCATCCAGATCAGCGAGCTGGAGACCAATGTC
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 ]

1. Protein DRA
2. Down-regulated in adenoma
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 )

• 1-491

• 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. 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 ]
3. 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 ]
4. 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 ]
5. 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. Solute carrier family 26, member 9, isoform CRA_b
2. Solute carrier family 26, member 9

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

• (2)Bicarbonate[c] + Sulfate[e] --> (2)Bicarbonate[e] + Sulfate[c]

• STAS (PF01740 )
• Sulfate_transp (PF00916 )

• None

• None

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 ]

MTGAKRKKKSMLWSKMHTPQCEDIIQWCRRRLPILDWAPHYNLKENLLPDTVSGIMLAVQ
QVTQGLAFAVLSSVHPVFGLYGSLFPAIIYAIFGMGHHVATGTFALTSLISANAVERIVP
QNMQNLTTQSNASVLGLSDFEMQRIHVAAAVSFLGGVIQVAMFVLQLGSATFVVTEPVIS
AMTTGAATHVVTSQVKYLLGMKMPYISGPLGFFYIYAYVFENIKSVRLEALLLSLLSIVV
LVLVKELNEQFKRKIKVVLPVDLVLIIAASFACYCTNMENTYGLEVVGHIPQGIPSPRAP
PMNILSAVITEAFGVALVGYVASLALAQGSAKKFKYSIDDNQEFLAHGLSNIVSSFFFCI
PSAAAMGRTAGLYSTGAKTQVACLISCIFVLIVIYAIGPLLYWLPMCVLASIIVVGLKGM
LIQFRDLKKYWNVDKIDWGIWVSTYVFTICFAANVGLLFGVVCTIAIVIGRFPRAMTVSI
KNMKEMEFKVKTEMDSETLQQVKIISINNPLVFLNAKKFYTDLMNMIQKENACNQPLDDI
SKCEQNTLLNSLSNGNCNEEASQSCPNEKCYLILDCSGFTFFDYSGVSMLVEVYMDCKGR
SVDVLLAHCTASLIKAMTYYGNLDSEKPIFFESVSAAISHIHSNKNLSKLSDHSEV

• (2)Bicarbonate[c] + Sulfate[e] --> (2)Bicarbonate[e] + Sulfate[c]

• STAS (PF01740 )
• Sulfate_transp (PF00916 )

• None

• None

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 ]

1. Solute carrier family 26, member 8, isoform CRA_a
2. Solute carrier family 26, member 8

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

• (2)Bicarbonate[c] + Sulfate[e] --> (2)Bicarbonate[e] + Sulfate[c]

• STAS (PF01740 )
• Sulfate_transp (PF00916 )

• None

• None

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 ]

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

MAPTLATAHRRRWWMACTAVLENLLFSAVLLGWGSLLIMLKSEGFYSYLCTEPENVTNGT
VGGTAEPGHEEVSWMNGWLSCQAQDEMLNLAFTVGSFLLSAITLPLGIVMDKYGPRKLRL
LGSACFAVSCLLIAYGASKPNALSVLIFIALALNGFGGMCMTFTSLTLPNMFGDLRSTFI
ALMIGSYASSAVTFPGIKLIYDAGVSFIVVLVVWAGCSGLVFLNCFFNWPLEPFPGPEDM
DYSVKIKFSWLGFDHKITGKQFYKQVTTVGRRLSVGSSMRSAKEQVALQEGHKLCLSTVD
LEVKCQPDAAVAPSFMHSVFSPILLLSLVTMCVTQLRLIFYMGAMNNILKFLVSGDQKTV
GLYTSIFGVLQLLCLLTAPVIGYIMDWRLKECEDASEEPEEKDANQGEKKKKKRDRQIQK
ITNAMRAFAFTNLLLVGFGVTCLIPNLPLQILSFILHTIVRGFIHSAVGGLYAAVYPSTQ
FGSLTGLQSLISALFALLQQPLFLAMMGPLQGDPLWVNVGLLLLSLLGFCLPLYLICYRR
QLERQLQQRQEDDKLFLKINGSSNQEAFV

• L-Phenylalanine[e] <==> L-Phenylalanine[c]

• 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

1. Vitelliform macular dystrophy protein 2
2. TU15B

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
AGGCCAGGCTACTACAGTGCCCCACAGACACCCCTCAGCCCCACTCCCATGTTCTTCCCC
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. Sun H, Tsunenari T, Yau KW, Nathans J: The vitelliform macular dystrophy protein defines a new family of chloride channels. Proc Natl Acad Sci U S A. 2002 Mar 19;99(6):4008-13. [PubMed ]
5. 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 ]
6. 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 ]
7. 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 ]
8. 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 ]
9. 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 ]

1. Vitelliform macular dystrophy 2-like protein 1

MTVTYTARVANARFGGFSQLLLLWRGSIYKLLWRELLCFLGFYMALSAAYRFVLTEGQKR
YFEKLVIYCDQYASLIPVSFVLGFYVTLVVNRWWSQYLCMPLPDALMCVVAGTVHGRDDR
GRLYRRTLMRYAGLSAVLILRSVSTAVFKRFPTIDHVVEAGFMTREERKKFENLNSSYNK
YWVPCVWFSNLAAQARREGRIRDNSALKLLLEELNVFRGKCGMLFHYDWISVPLVYTQVV
TIALYSYFLACLIGRQFLDPAQGYKDHDLDLCVPIFTLLQFFFYAGWLKVAEQLINPFGE
DDDDFETNFLIDRNFQVSMLAVDEMYDDLAVLEKDLYWDAAEARAPYTAATVFQLRQPSF
QGSTFDITLAKEDMQFQRLDGLDGPMGEAPGDFLQRLLPAGAGMVAGGPLGRRLSFLLRK
NSCVSEASTGASCSCAVVPEGAAPECSCGDPLLDPGLPEPEAPPPAGPEPLTLIPGPVEP
FSIVTMPGPRGPAPPWLPSPIGEEEENLA

• Bestrophin (PF01062 )

• None

• 26-46 71-91 179-199 271-291

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

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

1. Vitelliform macular dystrophy 2-like protein 3

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

• Bestrophin (PF01062 )

• None

• 26-46 71-91 179-199 271-291

ATGACTGTCACTTACTCCAGTAAAGTAGCAAATGCAACTTTTTTTGGATTTCATAGGTTA
CTCCTCAAGTGGAGAGGCAGCATCTACAAACTACTGTACAGGGAATTTATTGTTTTTGCT
GTTCTTTATACAGCAATAAGTTTGGTGTACAGATTGTTACTTACAGGAGTCCAAAAACGT
TACTTTGAAAAATTATCAATTTACTGTGACAGATATGCTGAACAAATTCCAGTAACCTTT
GTGCTTGGGTTTTATGTTACTCTGGTAGTGAACCGATGGTGGAACCAGTTTGTGAATTTG
CCCTGGCCAGACAGGCTAATGTTCCTCATCTCTAGCAGTGTTCACGGAAGCGACGAGCAC
GGGCGCCTGCTTAGAAGGACGCTGATGCGCTACGTCAATCTCACCTCCCTGCTCATCTTT
CGCTCGGTGAGCACTGCTGTGTACAAAAGATTTCCCACAATGGACCACGTGGTTGAAGCA
GGTTTTATGACAACAGATGAAAGGAAATTATTCAACCACCTCAAGTCTCCTCATCTGAAA
TATTGGGTTCCATTCATCTGGTTTGGAAATCTTGCAACTAAAGCCCGGAATGAAGGTAGA
ATCAGAGACAGTGTTGATCTGCAATCATTGATGACTGAAATGAATCGATACCGCTCTTGG
TGCAGCCTCTTATTCGGTTATGACTGGGTTGGGATTCCGCTGGTTTACACCCAGGTTGTC
ACTCTTGCTGTCTATACCTTCTTCTTTGCGTGCCTGATTGGACGCCAGTTTTTGGATCCC
ACCAAAGGCTACGCAGGGCATGACTTGGATCTTTACATTCCCATCTTCACCCTCCTACAA
TTCTTCTTCTATGCAGGATGGCTTAAGGTAGCAGAGCAGCTTATCAACCCTTTTGGAGAA
GATGATGATGATTTTGAAACTAACTGGTGCATTGACAGAAATTTGCAGGTCTCTCTTTTA
GCTGTGGACGAAATGCACATGAGCTTACCCAAGATGAAGAAGGACATTTACTGGGACGAT
TCTGCTGCTCGCCCACCATACACATTGGCAGCTGCTGACTACTGCATACCCTCATTTCTG
GGGTCAACAGTCCAGATGGGGAAACAGATGCCTAAGAATGAGTGGAAGATGGAAGATATA
AAAATCCCACTCCCTCAGCCTCAATTCCAGTGTGCTAAGAGTGATCCTGGTGGTTAA

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

1. Vitelliform macular dystrophy 2-like protein 2

MTVSYTLKVAEARFGGFSGLLLRWRGSIYKLLYKEFLLFGALYAVLSITYRLLLTQEQRY
VYAQVARYCNRSADLIPLSFVLGFYVTLVVNRWWSQYTSIPLPDQLMCVISASVHGVDQR
GRLLRRTLIRYANLASVLVLRSVSTRVLKRFPTMEHVVDAGFMSQEERKKFESLKSDFNK
YWVPCVWFTNLAAQARRDGRIRDDIALCLLLEELNKYRAKCSMLFHYDWISIPLVYTQVV
TIAVYSFFALSLVGRQFVEPEAGAAKPQKLLKPGQEPAPALGDPDMYVPLTTLLQFFFYA
GWLKVAEQIINPFGEDDDDFETNQLIDRNLQVSLLSVDEMYQNLPPAEKDQYWDEDQPQP
PYTVATAAESLRPSFLGSTFNLRMSDDPEQSLQVEASPGSGRPAPAAQTPLLGRFLGVGA
PSPAISLRNFGRVRGTPRPPHLLRFRAEEGGDPEAAARIEEESAESGDEALEP

• Bestrophin (PF01062 )

• None

• 26-46 71-91 179-199 286-306

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

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

MRLDLASLMSAPKSLGSAFKSWRLDKAPSPQHTFPSTSIPGMAFALLASVPPVFGLYTSF
FPVLIYSLLGTGRHLSTGTFAILSLMTGSAVERLVPEPLVGNLSGIEKEQLDAQRVGVAA
AVAFGSGALMLGMFVLQLGVLSTFLSEPVVKALTSGAALHVLLSQLPSLLGLSLPRQIGC
FSLFKTLASLLTALPRSSPAELTISALSLALLVPVKELNVRFRDRLPTPIPGEVVLVLLA
SVLCFTSSVDTRYQVQIVGLLPGGFPQPLLPNLAELPRILADSLPIALVSFAVSASLASI
HADKYSYTIDSNQEFLAHGASNLISSLFSCFPNSATLATTNLLVDAGGKTQLAGLFSCTV
VLSVLLWLGPFFYYLPKAVLACINISSMRQVFCQMQELPQLWHISRVDFLLQVPGLCILS
YPTPLYFGTRGQFRCNLEWHLGLGEGEKETSKPDGPMVAVAEPVRVVVLDFSGVTFADAA
GAREVVQVRERLASRCRDARIRLLLAQCNALVQGTLTRVGLLDRVTPDQLFVSVQDAAAY
ALGSLLRGSSTRSGSQEALGCGK

• STAS (PF01740 )
• Sulfate_transp (PF00916 )

• None

• None

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

1. Solute carrier family 26 member 5

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