T3DB: Solute carrier family 12 member 1

Name	Solute carrier family 12 member 1
Synonyms	Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2 Kidney-specific Na-K-Cl symporter NKCC2
Gene Name	SLC12A1
Organism	Human
Amino acid sequence	>lcl\|BSEQ0022479\|Solute carrier family 12 member 1 MSLNNSSNVFLDSVPSNTNRFQVSVINENHESSAAADDNTDPPHYEETSFGDEAQKRLRI SFRPGNQECYDNFLQSGETAKTDASFHAYDSHTNTYYLQTFGHNTMDAVPKIEYYRNTGS ISGPKVNRPSLLEIHEQLAKNVAVTPSSADRVANGDGIPGDEQAENKEDDQAGVVKFGWV KGVLVRCMLNIWGVMLFIRLSWIVGEAGIGLGVLIILLSTMVTSITGLSTSAIATNGFVR GGGAYYLISRSLGPEFGGSIGLIFAFANAVAVAMYVVGFAETVVDLLKESDSMMVDPTND IRIIGSITVVILLGISVAGMEWEAKAQVILLVILLIAIANFFIGTVIPSNNEKKSRGFFN YQASIFAENFGPRFTKGEGFFSVFAIFFPAATGILAGANISGDLEDPQDAIPRGTMLAIF ITTVAYLGVAICVGACVVRDATGNMNDTIISGMNCNGSAACGLGYDFSRCRHEPCQYGLM NNFQVMSMVSGFGPLITAGIFSATLSSALASLVSAPKVFQALCKDNIYKALQFFAKGYGK NNEPLRGYILTFLIAMAFILIAELNTIAPIISNFFLASYALINFSCFHASYAKSPGWRPA YGIYNMWVSLFGAVLCCAVMFVINWWAAVITYVIEFFLYVYVTCKKPDVNWGSSTQALSY VSALDNALELTTVEDHVKNFRPQCIVLTGGPMTRPALLDITHAFTKNSGLCICCEVFVGP RKLCVKEMNSGMAKKQAWLIKNKIKAFYAAVAADCFRDGVRSLLQASGLGRMKPNTLVIG YKKNWRKAPLTEIENYVGIIHDAFDFEIGVVIVRISQGFDISQVLQVQEELERLEQERLA LEATIKDNECEEESGGIRGLFKKAGKLNITKTTPKKDGSINTSQSMHVGEFNQKLVEAST QFKKKQEKGTIDVWWLFDDGGLTLLIPYILTLRKKWKDCKLRIYVGGKINRIEEEKIVMA SLLSKFRIKFADIHIIGDINIRPNKESWKVFEEMIEPYRLHESCKDLTTAEKLKRETPWK ITDAELEAVKEKSYRQVRLNELLQEHSRAANLIVLSLPVARKGSISDLLYMAWLEILTKN LPPVLLVRGNHKNVLTFYS
Number of residues	1099
Molecular Weight	121449.13
Theoretical pI	7.42
GO Classification	Functions sodium ion transmembrane transporter activity sodium potassium ion symporter activity potassium Processes potassium ion import sodium ion homeostasis excretion positive regulation of calcineurin-NFAT signaling cascade cellular hyperosmotic salinity response sodium ion transmembrane transport transmembrane transport ion transmembrane transport kidney development cell volume homeostasis chloride ion homeostasis transport chloride transmembrane transport potassium ion homeostasis ion transport Components membrane plasma membrane extracellular exosome integral component of plasma membrane apical plasma membrane
General Function	Sodium:potassium:chloride symporter activity
Specific Function	Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume.
Pfam Domain Function	AA_permease (PF00324 ) SLC12 (PF03522 ) AA_permease_N (PF08403 )
Transmembrane Regions	178-198 202-222 260-280 303-323 328-348 380-400 418-438 485-505 551-571 572-592 610-630 793-813
GenBank Protein ID	1373425
UniProtKB ID	Q13621
UniProtKB Entry Name	S12A1_HUMAN
Cellular Location	Membrane
Gene sequence	>lcl\|BSEQ0022480\|Solute carrier family 12 member 1 (SLC12A1) ATGTCACTGAACAACTCTTCCAATGTATTTCTGGATTCAGTGCCCAGTAATACCAATCGC TTTCAAGTTAGTGTCATAAATGAGAACCATGAGAGCAGTGCAGCTGCAGATGACAATACT GACCCACCACATTATGAAGAAACCTCTTTTGGGGATGAAGCTCAGAAAAGACTCAGAATC AGCTTTAGGCCTGGGAATCAGGAGTGCTATGACAATTTCCTCCAAAGTGGAGAAACTGCT AAAACAGATGCCAGTTTTCACGCTTATGATTCTCACACAAACACATACTATCTACAAACT TTTGGCCACAACACCATGGATGCCGTTCCCAAGATAGAGTACTATCGTAACACCGGCAGC ATCAGTGGGCCCAAGGTCAACCGACCCAGCCTGCTTGAGATTCACGAGCAACTCGCAAAG AATGTGGCAGTCACCCCAAGTTCAGCTGACAGAGTTGCTAACGGTGATGGGATACCTGGA GATGAACAAGCTGAAAATAAGGAAGATGATCAAGCTGGTGTTGTGAAGTTTGGATGGGTG AAAGGTGTGCTGGTAAGATGCATGCTGAACATCTGGGGAGTCATGCTCTTCATTCGCCTC TCCTGGATTGTTGGAGAAGCTGGAATTGGTCTTGGAGTTCTCATAATTCTTCTTTCCACC ATGGTAACTTCTATTACTGGGTTGTCAACTTCTGCGATAGCAACTAACGGGTTTGTTCGT GGAGGTGGGGCCTACTATCTTATTTCCAGAAGTTTAGGGCCCGAGTTCGGTGGGTCAATA GGCCTGATCTTTGCTTTTGCTAATGCAGTGGCTGTTGCTATGTATGTGGTGGGATTTGCT GAGACTGTAGTAGATCTTCTTAAGGAGAGTGATTCGATGATGGTGGATCCAACCAATGAC ATCCGGATTATAGGCTCCATCACAGTGGTGATTCTTCTAGGAATTTCAGTAGCTGGAATG GAATGGGAGGCAAAGGCCCAAGTCATTCTTCTGGTCATTCTTCTAATTGCTATTGCAAAC TTCTTCATTGGAACTGTCATTCCATCCAACAATGAGAAAAAGTCCAGAGGTTTCTTTAAT TACCAAGCATCAATATTTGCAGAAAACTTTGGGCCACGCTTCACAAAGGGTGAAGGCTTC TTCTCTGTCTTTGCCATTTTTTTCCCAGCAGCTACTGGGATTCTTGCTGGTGCCAATATC TCAGGAGATTTGGAGGATCCCCAAGATGCCATCCCCAGAGGAACCATGCTGGCCATTTTC ATCACCACTGTTGCCTACTTAGGGGTTGCAATTTGTGTAGGGGCCTGTGTGGTCCGAGAT GCCACCGGGAACATGAATGACACCATCATTTCTGGGATGAACTGCAATGGTTCAGCAGCA TGTGGGTTGGGCTATGACTTCTCAAGATGTCGACATGAACCATGTCAGTACGGGCTGATG AACAATTTCCAGGTCATGAGCATGGTATCAGGGTTCGGCCCCCTCATCACTGCGGGAATC TTTTCTGCAACACTCTCCTCCGCCCTGGCCTCCCTTGTCAGCGCACCCAAAGTGTTCCAG GCTCTGTGCAAGGACAACATCTACAAAGCCCTGCAGTTTTTTGCAAAGGGATATGGGAAA AACAATGAACCCCTGAGAGGATATATTCTCACTTTTCTTATAGCCATGGCATTTATTCTT ATTGCGGAACTGAACACCATTGCTCCCATCATCTCCAACTTTTTCCTGGCCTCATATGCA CTTATTAATTTCTCCTGCTTCCATGCCTCTTATGCCAAATCTCCAGGATGGAGACCTGCG TATGGAATTTACAACATGTGGGTATCTCTTTTTGGAGCTGTTTTGTGCTGTGCAGTCATG TTTGTCATCAACTGGTGGGCAGCTGTCATCACCTATGTCATTGAATTCTTCCTTTACGTC TATGTGACTTGTAAGAAGCCAGATGTGAACTGGGGCTCCTCCACACAGGCTCTTTCCTAC GTGAGTGCTTTAGACAATGCTCTGGAATTAACCACAGTGGAAGACCACGTAAAAAACTTC AGGCCCCAGTGCATTGTCTTAACAGGGGGACCCATGACAAGACCTGCTCTCCTGGACATA ACTCACGCCTTTACCAAGAACAGTGGCCTTTGCATCTGCTGTGAAGTCTTTGTGGGACCG CGCAAACTGTGTGTTAAGGAGATGAACAGTGGCATGGCGAAAAAACAGGCCTGGCTTATA AAGAACAAAATCAAGGCTTTTTATGCTGCAGTGGCGGCAGACTGTTTCAGGGATGGTGTC CGAAGTCTTCTTCAGGCCTCAGGCTTAGGAAGAATGAAACCAAACACTCTGGTGATTGGA TATAAGAAAAACTGGAGGAAAGCTCCCTTGACAGAGATTGAGAACTACGTGGGAATCATA CATGATGCATTTGATTTTGAGATTGGCGTGGTTATAGTCAGAATCAGCCAAGGATTTGAC ATCTCTCAGGTTCTTCAGGTGCAAGAGGAATTAGAGAGATTAGAACAGGAGAGACTAGCA TTGGAAGCGACTATCAAAGATAATGAGTGTGAAGAGGAAAGTGGAGGCATCCGAGGCTTG TTTAAAAAAGCTGGCAAGTTGAACATTACTAAGACAACGCCTAAAAAAGATGGCAGCATT AACACAAGCCAGTCGATGCATGTGGGAGAGTTCAACCAGAAACTGGTGGAAGCCAGCACT CAATTTAAAAAGAAACAAGAAAAAGGCACAATTGATGTTTGGTGGTTGTTTGATGATGGA GGGTTAACACTTCTTATCCCCTATATCTTAACTCTCAGAAAAAAATGGAAAGACTGTAAA TTAAGAATCTATGTGGGAGGGAAGATCAACCGCATTGAAGAAGAAAAAATTGTAATGGCT TCCCTTCTGAGCAAATTTAGGATAAAATTTGCAGACATCCATATCATCGGTGACATCAAC ATTAGGCCAAACAAAGAGAGCTGGAAAGTCTTTGAAGAGATGATTGAACCATATCGTCTC CATGAAAGCTGCAAAGATTTAACAACTGCTGAGAAATTAAAAAGAGAAACTCCGTGGAAA ATTACAGATGCAGAACTGGAAGCAGTCAAGGAAAAGAGTTACCGCCAAGTTCGACTGAAT GAACTCTTACAGGAGCACTCCAGAGCTGCTAATCTCATTGTCCTGAGCCTTCCCGTGGCA AGAAAGGGATCCATATCGGATTTGTTGTATATGGCTTGGTTGGAAATCCTCACAAAGAAC CTCCCACCTGTCTTACTAGTTAGAGGAAATCACAAAAATGTCTTGACATTTTACTCTTAA
GenBank Gene ID	U58130
GeneCard ID	Not Available
GenAtlas ID	SLC12A1
HGNC ID	HGNC:10910
Chromosome Location	15
Locus	15q15-q21.1
References	Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP: Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet. 1996 Jun;13(2):183-8. 8640224 Zody MC, Garber M, Sharpe T, Young SK, Rowen L, O'Neill K, Whittaker CA, Kamal M, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Kodira CD, Madan A, Qin S, Yang X, Abbasi N, Abouelleil A, Arachchi HM, Baradarani L, Birditt B, Bloom S, Bloom T, Borowsky ML, Burke J, Butler J, Cook A, DeArellano K, DeCaprio D, Dorris L 3rd, Dors M, Eichler EE, Engels R, Fahey J, Fleetwood P, Friedman C, Gearin G, Hall JL, Hensley G, Johnson E, Jones C, Kamat A, Kaur A, Locke DP, Madan A, Munson G, Jaffe DB, Lui A, Macdonald P, Mauceli E, Naylor JW, Nesbitt R, Nicol R, O'Leary SB, Ratcliffe A, Rounsley S, She X, Sneddon KM, Stewart S, Sougnez C, Stone SM, Topham K, Vincent D, Wang S, Zimmer AR, Birren BW, Hood L, Lander ES, Nusbaum C: Analysis of the DNA sequence and duplication history of human chromosome 15. Nature. 2006 Mar 30;440(7084):671-5. 16572171 Cruz-Rangel S, Melo Z, Vazquez N, Meade P, Bobadilla NA, Pasantes-Morales H, Gamba G, Mercado A: Similar effects of all WNK3 variants on SLC12 cotransporters. Am J Physiol Cell Physiol. 2011 Sep;301(3):C601-8. doi: 10.1152/ajpcell.00070.2011. Epub 2011 May 25. 21613606