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MGP002890

UniProt Annotations

Entry Information
Gene Namesolute carrier family 12 (sodium/chloride transporter), member 3
Protein EntryS12A3_HUMAN
UniProt IDP55017
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P55017-1; Sequence=Displayed; Name=2; IsoId=P55017-2; Sequence=VSP_036318; Name=3; IsoId=P55017-3; Sequence=VSP_040100, VSP_036318; Note=No experimental confirmation available.;
DiseaseGitelman syndrome (GS) [MIM:263800]: An autosomal recessive disorder characterized by hypokalemic alkalosis in combination with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. Patients are often asymptomatic or present transient periods of muscular weakness and tetany, usually accompanied by abdominal pain, vomiting and fever. The phenotype is highly heterogeneous in terms of age at onset and severity. Cardinal features such as hypocalciuria and hypomagnesemia might also change during the life cycle of a given patient. It has overlapping features with Bartter syndrome. {ECO:0000269|PubMed:10616841, ECO:0000269|PubMed:10988270, ECO:0000269|PubMed:11168953, ECO:0000269|PubMed:11940055, ECO:0000269|PubMed:12008755, ECO:0000269|PubMed:12112667, ECO:0000269|PubMed:15069170, ECO:0000269|PubMed:15687331, ECO:0000269|PubMed:16429844, ECO:0000269|PubMed:17654016, ECO:0000269|PubMed:17873326, ECO:0000269|PubMed:8528245, ECO:0000269|PubMed:8900229, ECO:0000269|PubMed:8954067, ECO:0000269|PubMed:9734597}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationActivated by WNK3. {ECO:0000269|PubMed:21613606}.
FunctionKey mediator of sodium and chloride reabsorption in this nephron segment, accounting for a significant fraction of renal sodium reabsorption. {ECO:0000269|PubMed:8528245}.
MiscellaneousTarget of thiazide diuretics used in the treatment of high blood pressure. {ECO:0000305|PubMed:8528245}.
PtmUbiquitinated; ubiquitination is essential for regulation of endocytosis. The BCR(KLHL3) complex was initially identified as a candidate ubiquitin ligase for SLC12A3 (PubMed:22406640). However, it was later shown that it is not the case. {ECO:0000269|PubMed:22406640}.
SimilarityBelongs to the SLC12A transporter family. {ECO:0000305}.
Subcellular LocationCell membrane; Multi-pass membrane protein.
SubunitInteracts with KLHL3. {ECO:0000269|PubMed:22406640}.
Tissue SpecificityPredominant in kidney.
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