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MGP002861

UniProt Annotations

Entry Information
Gene Namesolute carrier family 5 (sodium/glucose cotransporter), member 1
Protein EntrySC5A1_HUMAN
UniProt IDP13866
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P13866-1; Sequence=Displayed; Name=2; IsoId=P13866-2; Sequence=VSP_044782; Note=No experimental confirmation available.;
DiseaseCongenital glucose/galactose malabsorption (GGM) [MIM:606824]: Intestinal monosaccharide transporter deficiency. It is an autosomal recessive disorder manifesting itself within the first weeks of life. It is characterized by severe diarrhea and dehydration which are usually fatal unless glucose and galactose are eliminated from the diet. {ECO:0000269|PubMed:10036327, ECO:0000269|PubMed:11406349, ECO:0000269|PubMed:2008213, ECO:0000269|PubMed:8195156}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionActively transports glucose into cells by Na(+) cotransport with a Na(+) to glucose coupling ratio of 2:1. Efficient substrate transport in mammalian kidney is provided by the concerted action of a low affinity high capacity and a high affinity low capacity Na(+)/glucose cotransporter arranged in series along kidney proximal tubules.
InteractionP00533:EGFR; NbExp=3; IntAct=EBI-1772443, EBI-297353;
PtmN-glycosylation is not necessary for the cotransporter function. {ECO:0000269|PubMed:8567640}.
SimilarityBelongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. {ECO:0000305}.
Subcellular LocationMembrane; Multi-pass membrane protein.
Tissue SpecificityExpressed mainly in intestine and kidney.
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