Neutral amino acid transporter A

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

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]

AliasesSLC1A4, ASCT1, SATT, solute carrier family 1 member 4
End65,023,865 bp[1]
Quick facts SLC1A4, Identifiers ...
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
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Function

The transporter is responsible for transport of L-serine, D-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.[9]

See also

References

Further reading

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