SLC1A4
Identifiers
AliasesSLC1A4, ASCT1, SATT, SPATCCM, solute carrier family 1 member 4
External IDsOMIM: 600229 MGI: 2135601 HomoloGene: 20655 GeneCards: SLC1A4
Orthologs
SpeciesHumanMouse
Entrez

6509

55963

Ensembl

ENSG00000115902

ENSMUSG00000020142

UniProt

P43007

O35874

RefSeq (mRNA)

NM_001135581
NM_001193493
NM_003038
NM_001348406
NM_001348407

NM_018861

RefSeq (protein)

NP_001180422
NP_003029
NP_001335335
NP_001335336

NP_061349

Location (UCSC)Chr 2: 64.99 – 65.02 MbChr 11: 20.25 – 20.28 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Neutral amino acid transporter A is a protein that in humans is encoded by the SLC1A4 gene.[5][6][7]

Function

The transporter is responsible for transport of L-serine, L-alanine, L-cysteine, and L-threonine.

Pathology

Mutations of the gene cause a disease called spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM). This disorder is inherited in an autosomal recessive fashion.

Interactions

In melanocytic cells SLC1A4 gene expression may be regulated by MITF.[8]

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000115902 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000020142 - 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. Hofmann K, Duker M, Fink T, Lichter P, Stoffel W (Apr 1995). "Human neutral amino acid transporter ASCT1: structure of the gene (SLC1A4) and localization to chromosome 2p13-p15". Genomics. 24 (1): 20–6. doi:10.1006/geno.1994.1577. PMID 7896285.
  6. Zerangue N, Kavanaugh MP (Dec 1996). "ASCT-1 is a neutral amino acid exchanger with chloride channel activity". J Biol Chem. 271 (45): 27991–4. doi:10.1074/jbc.271.45.27991. PMID 8910405.
  7. "Entrez Gene: SLC1A4 solute carrier family 1 (glutamate/neutral amino acid transporter), member 4".
  8. Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. S2CID 24698373.

Further reading

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


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