Neutral amino acid transporter A

SLC1A4
Identifiers
Aliases	SLC1A4, ASCT1, SATT, solute carrier family 1 member 4
External IDs	OMIM: 600229; MGI: 2135601; HomoloGene: 20655; GeneCards: SLC1A4; OMA:SLC1A4 - orthologs
Gene location (Human)
Chr.	Chromosome 2 (human)
End	65,023,865 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	20,282,713 bp
RNA expression pattern
	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
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	L-glutamine transmembrane transporter activity; L-threonine transmembrane transporter activity; L-proline transmembrane transporter activity; L-serine transmembrane transporter activity; L-hydroxyproline transmembrane transporter activity; L-cystine transmembrane transporter activity; neutral amino acid transmembrane transporter activity; L-alanine transmembrane transporter activity; symporter activity; chloride channel activity; amino acid transmembrane transporter activity;
Cellular component	integral component of membrane; membrane; melanosome; plasma membrane; integral component of plasma membrane; cell surface; soma; dendrite; extracellular exosome; intermediate filament; centrosome; microtubule organizing center;
Biological process	synaptic transmission, glutamatergic; cognition; L-alanine transport; proline transport; hydroxyproline transport; amino acid transport; L-cystine transport; L-serine transport; glutamine transport; threonine transport; chloride transmembrane transport; amino acid transmembrane transport; proline transmembrane transport; transmembrane transport; chloride transport; transport;
	Sources:Amigo / QuickGO
Orthologs
	6509
	55963
	ENSG00000115902
	ENSMUSG00000020142
	P43007
	O35874
	NM_001135581; NM_001193493; NM_003038; NM_001348406; NM_001348407
	NM_018861
	NP_001180422; NP_003029; NP_001335335; NP_001335336
	NP_061349
	Wikidata
View/Edit Human	View/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

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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000115902 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000020142 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ "Entrez Gene: SLC1A4 solute carrier family 1 (glutamate/neutral amino acid transporter), member 4".
^ 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.
^ 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.

Arriza JL, Kavanaugh MP, Fairman WA, Wu YN, Murdoch GH, North RA, et al. (July 1993). "Cloning and expression of a human neutral amino acid transporter with structural similarity to the glutamate transporter gene family". The Journal of Biological Chemistry. 268 (21): 15329–15332. doi:10.1016/S0021-9258(18)82257-8. PMID 8101838.
Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Shafqat S, Tamarappoo BK, Kilberg MS, Puranam RS, McNamara JO, Guadaño-Ferraz A, et al. (July 1993). "Cloning and expression of a novel Na(+)-dependent neutral amino acid transporter structurally related to mammalian Na+/glutamate cotransporters". The Journal of Biological Chemistry. 268 (21): 15351–15355. doi:10.1016/S0021-9258(18)82263-3. hdl:10261/152393. PMID 8340364.
Tamarappoo BK, McDonald KK, Kilberg MS (March 1996). "Expressed human hippocampal ASCT1 amino acid transporter exhibits a pH-dependent change in substrate specificity". Biochimica et Biophysica Acta (BBA) - Biomembranes. 1279 (2): 131–136. doi:10.1016/0005-2736(95)00259-6. PMID 8603078.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Marin M, Tailor CS, Nouri A, Kabat D (September 2000). "Sodium-dependent neutral amino acid transporter type 1 is an auxiliary receptor for baboon endogenous retrovirus". Journal of Virology. 74 (17): 8085–8093. doi:10.1128/JVI.74.17.8085-8093.2000. PMC 112341. PMID 10933718.
Younes M, Pathak M, Finnie D, Sifers RN, Liu Y, Schwartz MR (2001). "Expression of the neutral amino acids transporter ASCT1 in esophageal carcinomas". Anticancer Research. 20 (5C): 3775–3779. PMID 11268453.
Pinilla J, Barber A, Lostao MP (December 2001). "Active transport of alanine by the neutral amino-acid exchanger ASCT1". Canadian Journal of Physiology and Pharmacology. 79 (12): 1023–1029. doi:10.1139/cjpp-79-12-1023. PMID 11824937.
Lavillette D, Marin M, Ruggieri A, Mallet F, Cosset FL, Kabat D (July 2002). "The envelope glycoprotein of human endogenous retrovirus type W uses a divergent family of amino acid transporters/cell surface receptors". Journal of Virology. 76 (13): 6442–6452. doi:10.1128/JVI.76.13.6442-6452.2002. PMC 136247. PMID 12050356.
Marin M, Lavillette D, Kelly SM, Kabat D (March 2003). "N-linked glycosylation and sequence changes in a critical negative control region of the ASCT1 and ASCT2 neutral amino acid transporters determine their retroviral receptor functions". Journal of Virology. 77 (5): 2936–2945. doi:10.1128/JVI.77.5.2936-2945.2003. PMC 149750. PMID 12584318.
Chi A, Valencia JC, Hu ZZ, Watabe H, Yamaguchi H, Mangini NJ, et al. (November 2006). "Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes". Journal of Proteome Research. 5 (11): 3135–3144. doi:10.1021/pr060363j. PMID 17081065.

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

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000115902 – Ensembl, May 2017

[refGRCm38Ensembl-2] 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.

[pmid7896285-5] 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.

[pmid8910405-6] 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.

[entrez-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.

[pmid19067971-9] 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.

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Neutral amino acid transporter A

Function

Pathology

Interactions

See also

References

Further reading