MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP002888

UniProt Annotations

Entry Information
Gene Namesolute carrier family 12 (sodium/potassium/chloride transporter), member 1
Protein EntryS12A1_HUMAN
UniProt IDQ13621
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=A; IsoId=Q13621-1; Sequence=Displayed; Name=B; IsoId=Q13621-2; Sequence=Not described; Name=F; IsoId=Q13621-3; Sequence=VSP_035701; Note=Ref.1 (AAB07364) sequence is in conflict in positions: 220:VV->TI, 225:L->I, 228:I->M, 230:M->T, 234:C->A.;
DiseaseBartter syndrome 1 (BS1) [MIM:601678]: 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. Bartter syndrome type 1 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 mutations affecting the gene represented in this entry.
Enzyme RegulationActivated by WNK3. {ECO:0000269|PubMed:21613606}.
FunctionElectrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume.
SimilarityBelongs to the SLC12A transporter family. {ECO:0000305}.
Subcellular LocationMembrane; Multi-pass membrane protein.
Tissue SpecificityKidney specific.
  logo