B(0,+)-type amino acid transporter 1

SLC7A9
Identifiers
Aliases	SLC7A9 , BAT1, CSNU3, solute carrier family 7 member 9
External IDs	OMIM: 604144 MGI: 1353656 HomoloGene: 56668 GeneCards: SLC7A9
Gene location (Human) Chr. Chromosome 19 (human) [1] Band 19q13.11 Start 32,830,509 bp [1] End 32,869,767 bp [1]
Gene location (Mouse) Chr. Chromosome 7 (mouse) [2] Band 7|7 B2 Start 35,448,796 bp [2] End 35,466,036 bp [2]
Gene ontology Molecular function • peptide antigen binding • amino acid transmembrane transporter activity • L-cystine transmembrane transporter activity • neutral amino acid transmembrane transporter activity • GO:0001948 protein binding • antiporter activity • GO:0022891 transmembrane transporter activity • L-amino acid transmembrane transporter activity Cellular component • integral component of membrane • membrane • integral component of plasma membrane • cell 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 • macromolecular 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: 35.45 – 35.47 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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. ^[5]

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. ^[5] The protein associates with the protein coded for by SLC3A1. ^[6]

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. ^[5]

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.