Movatterモバイル変換

[0]ホーム
URL:

Jump to content
WikipediaThe Free Encyclopedia
Search

Neutral amino acid transporter A

From Wikipedia, the free encyclopedia
(Redirected fromSLC1A4)
Protein-coding gene in the species Homo sapiens

SLC1A4
Identifiers
AliasesSLC1A4, ASCT1, SATT, solute carrier family 1 member 4
External IDsOMIM:600229;MGI:2135601;HomoloGene:20655;GeneCards:SLC1A4;OMA:SLC1A4 - orthologs
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for SLC1A4
Genomic location for SLC1A4
Band2p14Start64,988,477bp[1]
End65,023,865bp[1]
Gene location (Mouse)
Chromosome 11 (mouse)
Chr.Chromosome 11 (mouse)[2]
Chromosome 11 (mouse)
Genomic location for SLC1A4
Genomic location for SLC1A4
Band11 A3.1|11 12.97 cMStart20,252,180bp[2]
End20,282,713bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • buccal mucosa cell

  • sperm

  • glutes

  • spinal ganglia

  • entorhinal cortex

  • internal globus pallidus

  • nucleus accumbens

  • external globus pallidus

  • Skeletal muscle tissue of biceps brachii

  • middle temporal gyrus
Top expressed in
  • supraoptic nucleus

  • paraventricular nucleus of hypothalamus

  • arcuate nucleus

  • ascending aorta

  • crypt of lieberkuhn of small intestine

  • aortic valve

  • fossa

  • median eminence

  • deep cerebellar nuclei

  • medial vestibular nucleus
More reference expression data
BioGPS




More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
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 aprotein that in humans is encoded by theSLC1A4gene.[5][6][7] In humans, it is expressed in the brain, lung, skeletal muscle, intestine and kidney.[8]

Function

[edit]

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

Pathology

[edit]

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

Interactions

[edit]

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

See also

[edit]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000115902 –Ensembl, May 2017
  2. ^abcGRCm38: 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, 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

[edit]

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

By group
SLC1–10
(1):
(2):
(3):
(4):
(5):
(6):
(7):
(8):
(9):
(10):
SLC11–20
(11):
(12):
(13):
(14):
(15):
(16):
(17):
(18):
(19):
(20):
SLC21–30
(21):
(22):
(23):
(24):
(25):
(26):
(27):
(28):
(29):
(30):
SLC31–40
(31):
(32):
(33):
(34):
(35):
(36):
(37):
(38):
(39):
(40):
SLC41–48
(41):
(42):
(43):
(44):
(45):
(46):
(47):
(48):
SLCO1–4
Symporter,Cotransporter
Antiporter (exchanger)
Stub icon

Thismembrane protein–related article is astub. You can help Wikipedia byexpanding it.

Retrieved from "https://en.wikipedia.org/w/index.php?title=Neutral_amino_acid_transporter_A&oldid=1300844364"
Categories:
Hidden categories:
[8]ページ先頭
©2009-2025 Movatter.jp