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

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(Redirected from SLC7A9) Protein-coding gene in the species Homo sapiens
SLC7A9
Identifiers
AliasesSLC7A9, BAT1, CSNU3, solute carrier family 7 member 9
External IDsOMIM: 604144; MGI: 1353656; HomoloGene: 56668; GeneCards: SLC7A9; OMA:SLC7A9 - orthologs
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)
Chromosome 19 (human)Genomic location for SLC7A9Genomic location for SLC7A9
Band19q13.11Start32,830,509 bp
End32,869,767 bp
Gene location (Mouse)
Chromosome 7 (mouse)
Chr.Chromosome 7 (mouse)
Chromosome 7 (mouse)Genomic location for SLC7A9Genomic location for SLC7A9
Band7|7 B2Start35,148,221 bp
End35,165,461 bp
RNA expression pattern
Bgee
HumanMouse (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
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
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 MbChr 7: 35.15 – 35.17 Mb
PubMed search
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.

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

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.


Membrane proteins, carrier proteins: membrane transport proteins solute carrier (TC 2A)
By group
SLC1–10
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SLC11–20
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SLC21–30
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SLC31–40
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SLC41–48
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SLCO1–4
Ion pumps
Symporter, Cotransporter
Antiporter (exchanger)
see also solute carrier disorders


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