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MGP002857

UniProt Annotations

Entry Information
Gene Namesolute carrier family 3 (amino acid transporter heavy chain), member 1
Protein EntrySLC31_HUMAN
UniProt IDQ07837
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=7; Name=A; IsoId=Q07837-1; Sequence=Displayed; Name=B; IsoId=Q07837-2; Sequence=VSP_054339; Name=C; IsoId=Q07837-3; Sequence=VSP_054342, VSP_054343; Name=D; IsoId=Q07837-4; Sequence=VSP_054340, VSP_054341; Name=E; IsoId=Q07837-5; Sequence=VSP_054344, VSP_054345; Name=F; IsoId=Q07837-6; Sequence=VSP_054346, VSP_054349; Name=G; IsoId=Q07837-7; Sequence=VSP_054347, VSP_054348;
DiseaseCystinuria (CSNU) [MIM:220100]: An autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure. {ECO:0000269|PubMed:10738006, ECO:0000269|PubMed:11748844, ECO:0000269|PubMed:12234283, ECO:0000269|PubMed:15635077, ECO:0000269|PubMed:16138908, ECO:0000269|PubMed:16609684, ECO:0000269|PubMed:19782624, ECO:0000269|PubMed:7539209, ECO:0000269|PubMed:7573036, ECO:0000269|PubMed:7575432, ECO:0000269|PubMed:8054986, ECO:0000269|PubMed:9186880}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseHypotonia-cystinuria syndrome (HCS) [MIM:606407]: Characterized generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia and rapid weight gain in late childhood. {ECO:0000269|PubMed:16385448}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionInvolved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system B(0,+)-like activity). May function as an activator of SLC7A9 and be involved in the high-affinity reabsorption of cystine in the kidney tubule. {ECO:0000269|PubMed:11318953, ECO:0000269|PubMed:7686906, ECO:0000269|PubMed:8486766, ECO:0000269|PubMed:8663184}.
Subcellular LocationMembrane {ECO:0000269|PubMed:12167606}; Single-pass type II membrane protein {ECO:0000269|PubMed:12167606}.
SubunitDisulfide-linked heterodimer with the amino acid transport protein SLC7A9. {ECO:0000269|PubMed:10588648, ECO:0000269|PubMed:12167606}.
Tissue SpecificityExpressed in the brush border membrane in the kidney (at protein level). Predominantly expressed in the kidney, small intestine and pancreas. Weakly expressed in liver. {ECO:0000269|PubMed:12167606, ECO:0000269|PubMed:7686906, ECO:0000269|PubMed:8486766}.
Web ResourceName=Cysdb; Note=Cystinuria database; URL="http://www.cysdb.mcgill.ca/";
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