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SLC7A9
Identifiers
Aliases	SLC7A9, BAT1, CSNU3, solute carrier family 7 member 9
External IDs	OMIM: 604144; MGI: 1353656; HomoloGene: 56668; GeneCards: SLC7A9; OMA:SLC7A9 - orthologs
Gene location (Human) Chr. Chromosome 19 (human) Band 19q13.11 Start 32,830,509 bp End 32,869,767 bp
Gene location (Mouse) Chr. Chromosome 7 (mouse) Band 7|7 B2 Start 35,148,221 bp End 35,165,461 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of ileum secondary oocyte jejunal mucosa kidney tubule glomerulus metanephric glomerulus duodenum human kidney right lobe of liver ventricular zone Top expressed in ileum human kidney right kidney jejunum duodenum epithelium of small intestine yolk sac intestinal villus migratory enteric neural crest cell Ileal epithelium More reference expression data BioGPS n/a
Gene ontology Molecular function peptide antigen binding amino acid transmembrane transporter activity L-cystine transmembrane transporter activity neutral amino acid transmembrane transporter activity protein binding antiporter activity transmembrane transporter activity L-amino acid transmembrane transporter activity Cellular component integral component of membrane membrane integral component of plasma membrane plasma membrane apical plasma membrane brush border membrane Biological process amino acid transmembrane transport neutral amino acid transport L-cystine transport leukocyte migration amino acid transport transmembrane transport protein-containing complex assembly L-alpha-amino acid transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 11136 30962 Ensembl ENSG00000021488 ENSMUSG00000030492 UniProt P82251 Q9QXA6 RefSeq (mRNA) NM_001126335 NM_001243036 NM_014270 NM_001199015 NM_001199016 NM_021291 RefSeq (protein) NP_001119807 NP_001229965 NP_055085 NP_001185944 NP_001185945 NP_067266 Location (UCSC) Chr 19: 32.83 – 32.87 Mb Chr 7: 35.15 – 35.17 Mb PubMed search
Wikidata
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b(0,+)-type amino acid transporter 1, also known as b(0,+)AT1, is a protein which in humans is encoded by the SLC7A9 gene.

Function

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. The protein associates with the protein coded for by SLC3A1.

Clinical significance

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.

See also

• Heterodimeric amino acid transporter
• Solute carrier family

References

1. ^ GRCh38: Ensembl release 89: ENSG00000021488 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000030492 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ "SLC7A9".
6. Feliubadaló L, Font M, Purroy J, Rousaud F, Estivill X, Nunes V, Golomb E, Centola M, Aksentijevich I, Kreiss Y, Goldman B, Pras M, Kastner DL, Pras E, Gasparini P, Bisceglia L, Beccia E, Gallucci M, de Sanctis L, Ponzone A, Rizzoni GF, Zelante L, Bassi MT, George AL, Manzoni M, De Grandi A, Riboni M, Endsley JK, Ballabio A, Borsani G, Reig N, Fernández E, Estévez R, Pineda M, Torrents D, Camps M, Lloberas J, Zorzano A, Palacín M (September 1999). "Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT". Nat. Genet. 23 (1): 52–7. doi:10.1038/12652. PMID 10471498. S2CID 204989591.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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