InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC7A9

Summary

InnateDB Protein

IDBP-42296.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SLC7A9

Protein Name

solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9

Synonyms

BAT1; CSNU3;

Species

Homo sapiens

Ensembl Protein

ENSP00000023064

InnateDB Gene

IDBG-42294 (SLC7A9)

Protein Structure

UniProt Annotation

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:0000269PubMed:10471498}.

Subcellular Localization

Cell membrane {ECO:0000269PubMed:12167606}; Multi-pass membrane protein {ECO:0000269PubMed:12167606}.

Disease Associations

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:0000269PubMed:10471498, ECO:0000269PubMed:11157794, ECO:0000269PubMed:12234283, ECO:0000269PubMed:12371955, ECO:0000269PubMed:12820697}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in the brush border membrane in the kidney (at protein level). Kidney, small intestine, liver and placenta. {ECO:0000269PubMed:10471498, ECO:0000269PubMed:12167606}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	4 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0015171	amino acid transmembrane transporter activity
GO:0015175	neutral amino acid transmembrane transporter activity
GO:0015184	L-cystine transmembrane transporter activity
GO:0042605	peptide antigen binding

Biological Process

GO:0003333	amino acid transmembrane transport
GO:0006461	protein complex assembly
GO:0006520	cellular amino acid metabolic process
GO:0006810	transport
GO:0006811	ion transport
GO:0006865	amino acid transport
GO:0007596	blood coagulation
GO:0015804	neutral amino acid transport
GO:0015811	L-cystine transport
GO:0050900	leukocyte migration
GO:0055085	transmembrane transport