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MGP004461

UniProt Annotations

Entry Information

Gene Name	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
Protein Entry	BAT1_HUMAN
UniProt ID	P82251
Species	Human

Comments

Comment type	Description
Disease	Cystinuria (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:10471498, ECO:0000269\|PubMed:11157794, ECO:0000269\|PubMed:12234283, ECO:0000269\|PubMed:12371955, ECO:0000269\|PubMed:12820697, ECO:0000269\|PubMed:15635077, ECO:0000269\|PubMed:16138908, ECO:0000269\|PubMed:16609684, ECO:0000269\|PubMed:18752446, ECO:0000269\|PubMed:19782624}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high- affinity reabsorption of cystine in the kidney tubule. {ECO:0000269\|PubMed:10471498, ECO:0000269\|PubMed:10588648, ECO:0000269\|PubMed:16609684}.
Similarity	Belongs to the amino acid-polyamine-organocation (APC) superfamily. {ECO:0000305}.
Subcellular Location	Apical cell membrane {ECO:0000269\|PubMed:12167606, ECO:0000269\|PubMed:16609684}; Multi- pass membrane protein {ECO:0000269\|PubMed:16609684, ECO:0000305\|PubMed:12167606}.
Subunit	Disulfide-linked heterodimer with the amino acid transport protein SLC3A1. Interacts with CAV1. {ECO:0000250\|UniProtKB:P82252}.
Tissue Specificity	Expressed in the brush border membrane in the kidney (at protein level). Kidney, small intestine, liver and placenta. {ECO:0000269\|PubMed:10471498, ECO:0000269\|PubMed:12167606}.