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Neutral amino acid transporter A

From Wikipedia, the free encyclopedia

SLC1A4
Identifiers
AliasesSLC1A4, ASCT1, SATT, solute carrier family 1 member 4
External IDsOMIM: 600229; MGI: 2135601; HomoloGene: 20655; GeneCards: SLC1A4; OMA:SLC1A4 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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] In humans, it is expressed in the brain, lung, skeletal muscle, intestine and kidney.[8]

Function

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

Pathology

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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

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In melanocytic cells SLC1A4 gene expression may be regulated by MITF.[9]

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000115902Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020142Ensembl, 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, Düker M, Fink T, Lichter P, Stoffel W (November 1994). "Human neutral amino acid transporter ASCT1: structure of the gene (SLC1A4) and localization to chromosome 2p13-p15". Genomics. 24 (1): 20–26. doi:10.1006/geno.1994.1577. PMID 7896285.
  6. ^ Zerangue N, Kavanaugh MP (November 1996). "ASCT-1 is a neutral amino acid exchanger with chloride channel activity". The Journal of Biological Chemistry. 271 (45): 27991–27994. 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. ^ Freidman N, Chen I, Wu Q, Briot C, Holst J, Font J, et al. (June 2020). "Amino Acid Transporters and Exchangers from the SLC1A Family: Structure, Mechanism and Roles in Physiology and Cancer". Neurochemical Research. 45 (6): 1268–1286. doi:10.1007/s11064-019-02934-x. PMID 31981058.
  9. ^ Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, et al. (December 2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell & Melanoma Research. 21 (6): 665–676. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. S2CID 24698373.

Further reading

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