SLC7A9 - solute carrier family 7 member 9 (human)
Gene
Symbol
Taxonomy
Dates
- Create:2016-09-14
- Modify:2025-01-17
Description
This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids. Alternate transcript variants, which encode the same protein, have been found for this gene. [provided by RefSeq, Jul 2011]
Enables L-cystine transmembrane transporter activity; broad specificity neutral L-amino acid:basic L-amino acid antiporter activity; and protein heterodimerization activity. Involved in L-cystine transport. Located in apical plasma membrane and brush border membrane. Implicated in cystinuria.
The SLC7A9 gene provides instructions for producing one part (subunit) of a protein made primarily in the kidneys. This subunit joins with another protein subunit, produced from the SLC3A1 gene, to form a transporter protein complex. During the process of urine formation in the kidneys, this protein complex absorbs particular protein building blocks (amino acids) back into the blood. In particular, the amino acids cystine, ornithine, arginine, and lysine are absorbed back into the blood through this mechanism.
- BAT1
- CSNU3
- B(0,+)-type amino acid transporter 1
- b(0,+)AT
- cystinuria type 3
- glycoprotein-associated amino acid transporter b0,+AT1
- solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
- solute carrier family 7 (cationic amino acid transporter, y+ system), member 9
- solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9
Associates with SLC3A1 to form a functional transporter complex that mediates the electrogenic exchange between cationic amino acids and neutral amino acids, with a stoichiometry of 1:1 (PMID: 16825196, PMID: 32494597, PMID: 32817565, PMID: 8663357). Has system b(0,+)-like activity with high affinity for extracellular cationic amino acids and L-cystine and lower affinity for intracellular neutral amino acids (PMID: 16825196, PMID: 32494597, PMID: 8663357). Substrate exchange is driven by high concentration of intracellular neutral amino acids and the intracellular reduction of L-cystine to L-cysteine (PMID: 8663357). Required for reabsorption of L-cystine and dibasic amino acids across the brush border membrane in renal proximal tubules.
Highly accurate protein structure prediction with AlphaFold. Nature. 2021 Aug;596(7873):583-589. DOI:10.1038/s41586-021-03819-2. PMID:34265844; PMCID:PMC8371605
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