SLC12A1
entrez
6557
canonical
uniprot
Q13621
canonical
ensembl
ENSG00000074803
resolver
ensp
ENSP00000331550
resolver
ensp
ENSP00000370381
resolver
ensp
ENSP00000379822
resolver
ensp
ENSP00000508901
resolver
enst
ENST00000330289
resolver
enst
ENST00000686073
resolver
genesymbol
SLC12A1
resolver
genesymbol_syn
NKCC2
resolver
hgnc
HGNC:10910
resolver
uniprot
A0A8I5KSK6
resolver
uniprot
A8JYA2
resolver
uniprot
B4DPF4
resolver
uniprot
E9PDW4
resolver
uniprot
F6SQP3
resolver
uniprot
Q8IUN5
resolver
uniprot_entry
A0A8I5KSK6_HUMAN
resolver
uniprot_entry
B4DPF4_HUMAN
resolver
uniprot_entry
F6SQP3_HUMAN
resolver
uniprot_entry
Q8IUN5_HUMAN
resolver
uniprot_entry
S12A1_HUMAN
resolver
uniprot_sec
A8JYA2
resolver
uniprot_sec
E9PDW4
resolver
activity_regulation
ACTIVITY REGULATION: Activated following phosphorylation by OXSR1/OSR1 and STK39/SPAK downstream of WNK kinases (WNK1, WNK2, WNK3 or WNK4). {ECO:0000269|PubMed:21613606}.
uniprot
proteins
amino_acid_sequence
MSLNNSSNVFLDSVPSNTNRFQVSVINENHESSAAADDNTDPPHYEETSFGDEAQKRLRISFRPGNQECYDNFLQSGETAKTDASFHAYDSHTNTYYLQTFGHNTMDAVPKIEYYRNTGSISGPKVNRPSLLEIHEQLAKNVAVTPSSADRVANGDGIPGDEQAENKEDDQAGVVKFGWVKGVLVRCMLNIWGVMLFIRLSWIVGEAGIGLGVLIILLSTMVTSITGLSTSAIATNGFVRGGGAYYLISRSLGPEFGGSIGLIFAFANAVAVAMYVVGFAETVVDLLKESDSMMVDPTNDIRIIGSITVVILLGISVAGMEWEAKAQVILLVILLIAIANFFIGTVIPSNNEKKSRGFFNYQASIFAENFGPRFTKGEGFFSVFAIFFPAATGILAGANISGDLEDPQDAIPRGTMLAIFITTVAYLGVAICVGACVVRDATGNMNDTIISGMNCNGSAACGLGYDFSRCRHEPCQYGLMNNFQVMSMVSGFGPLITAGIFSATLSSALASLVSAPKVFQALCKDNIYKALQFFAKGYGKNNEPLRGYILTFLIAMAFILIAELNTIAPIISNFFLASYALINFSCFHASYAKSPGWRPAYGIYNMWVSLFGAVLCCAVMFVINWWAAVITYVIEFFLYVYVTCKKPDVNWGSSTQALSYVSALDNALELTTVEDHVKNFRPQCIVLTGGPMTRPALLDITHAFTKNSGLCICCEVFVGPRKLCVKEMNSGMAKKQAWLIKNKIKAFYAAVAADCFRDGVRSLLQASGLGRMKPNTLVIGYKKNWRKAPLTEIENYVGIIHDAFDFEIGVVIVRISQGFDISQVLQVQEELERLEQERLALEATIKDNECEEESGGIRGLFKKAGKLNITKTTPKKDGSINTSQSMHVGEFNQKLVEASTQFKKKQEKGTIDVWWLFDDGGLTLLIPYILTLRKKWKDCKLRIYVGGKINRIEEEKIVMASLLSKFRIKFADIHIIGDINIRPNKESWKVFEEMIEPYRLHESCKDLTTAEKLKRETPWKITDAELEAVKEKSYRQVRLNELLQEHSRAANLIVLSLPVARKGSISDLLYMAWLEILTKNLPPVLLVRGNHKNVLTFYS
uniprot
proteins
disease_involvement
DISEASE: Bartter syndrome 1, antenatal (BARTS1) [MIM:601678]: A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS1 is a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia. {ECO:0000269|PubMed:8640224}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Renal sodium, potassium and chloride non-electrogenic ion symporter that mediates the transepithelial NaCl reabsorption in the thick ascending limb and plays an essential role in the urinary concentration and volume regulation (PubMed:21321328). It can substitute NH4(+) for K(+), enabling NH4(+) apical transmembrane transport in the medullary thick ascending limb (MTAL). This function is crucial for maintaining ammonium homeostasis by the kidney, particularly during metabolic acidosis (By similarity). {ECO:0000250|UniProtKB:P55015, ECO:0000269|PubMed:21321328}.
uniprot
proteins
mass_dalton
121450
uniprot
proteins
mutagenesis
MUTAGEN 20; /note="R->A: Abolished interaction with OXSR1/OSR1 and STK39/SPAK and subsequent phosphorylation and activation."; /evidence="ECO:0000269|PubMed:21321328"; MUTAGEN 95..100; /note="TYYLQT->AYYLQA: Abolished phosphorylation by OXSR1/OSR1 and STK39/SPAK in vitro."; /evidence="ECO:0000269|PubMed:21321328"; MUTAGEN 176; /note="K->A: Does not affect interaction with OXSR1/OSR1 and STK39/SPAK."; /evidence="ECO:0000269|PubMed:21321328"; MUTAGEN 965; /note="K->A: Does not affect interaction with OXSR1/OSR1 and STK39/SPAK."; /evidence="ECO:0000269|PubMed:21321328
uniprot
proteins
post_translational_modification
PTM: Phosphorylated at Ser-91, Thr-100 and Thr-105 by OXSR1/OSR1 and STK39/SPAK downstream of WNK kinases (WNK1, WNK2, WNK3 or WNK4), promoting its activity. {ECO:0000269|PubMed:21321328}.
uniprot
proteins
protein_family
SLC12A transporter family
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
21321328
uniprot
proteins
pubmed
21613606
uniprot
proteins
pubmed
29993276
uniprot
proteins
pubmed
8640224
uniprot
proteins
sequence_length
1099
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:21321328}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 178..198; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 202..222; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 260..280; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 303..323; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 328..348; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 380..400; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 418..438; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 551..571; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 572..592; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 610..630; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins