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

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SLC7A9
Identifiers
AliasesSLC7A9, BAT1, CSNU3, solute carrier family 7 member 9
External IDsMGI: 1353656 HomoloGene: 56668 GeneCards: SLC7A9
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)[1]
Chromosome 19 (human)
Genomic location for SLC7A9
Genomic location for SLC7A9
Band19q13.11Start32,830,509 bp[1]
End32,869,767 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 7: 35.45 – 35.47 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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[edit]

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[edit]

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[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000021488 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030492 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ a b c "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.

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