Neutral amino acid transporter A

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

SLC1A4
Identifiers
Aliases	SLC1A4, ASCT1, SATT, SPATCCM, solute carrier family 1 member 4
External IDs	OMIM: 600229 MGI: 2135601 HomoloGene: 20655 GeneCards: SLC1A4
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p14 Start 64,988,477 bp[1] End 65,023,865 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 A3.1|11 12.97 cM Start 20,302,180 bp[2] End 20,332,713 bp[2]
RNA expression pattern 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 • cell membrane • integral component of plasma membrane • cell surface • neuronal cell body • 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
Species	Human	Mouse
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 Mb	Chr 11: 20.3 – 20.33 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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

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.

See also

• Glutamate transporter
• Solute carrier family

References

1. GRCh38: Ensembl release 89: ENSG00000115902 - Ensembl, May 2017
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.
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.

Further reading

• Arriza JL, Kavanaugh MP, Fairman WA, et al. (1993). "Cloning and expression of a human neutral amino acid transporter with structural similarity to the glutamate transporter gene family". J. Biol. Chem. 268 (21): 15329–32. PMID 8101838.
• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Shafqat S, Tamarappoo BK, Kilberg MS, et al. (1993). "Cloning and expression of a novel Na(+)-dependent neutral amino acid transporter structurally related to mammalian Na+/glutamate cotransporters". J. Biol. Chem. 268 (21): 15351–5. PMID 8340364.
• Tamarappoo BK, McDonald KK, Kilberg MS (1996). "Expressed human hippocampal ASCT1 amino acid transporter exhibits a pH-dependent change in substrate specificity". Biochim. Biophys. Acta. 1279 (2): 131–6. doi:10.1016/0005-2736(95)00259-6. PMID 8603078.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Marin M, Tailor CS, Nouri A, Kabat D (2000). "Sodium-dependent neutral amino acid transporter type 1 is an auxiliary receptor for baboon endogenous retrovirus". J. Virol. 74 (17): 8085–93. doi:10.1128/JVI.74.17.8085-8093.2000. PMC 112341. PMID 10933718.
• Younes M, Pathak M, Finnie D, et al. (2001). "Expression of the neutral amino acids transporter ASCT1 in esophageal carcinomas". Anticancer Res. 20 (5C): 3775–9. PMID 11268453.
• Pinilla J, Barber A, Lostao MP (2002). "Active transport of alanine by the neutral amino-acid exchanger ASCT1". Can. J. Physiol. Pharmacol. 79 (12): 1023–9. doi:10.1139/cjpp-79-12-1023. PMID 11824937.
• Lavillette D, Marin M, Ruggieri A, et al. (2002). "The envelope glycoprotein of human endogenous retrovirus type W uses a divergent family of amino acid transporters/cell surface receptors". J. Virol. 76 (13): 6442–52. doi:10.1128/JVI.76.13.6442-6452.2002. PMC 136247. PMID 12050356.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Marin M, Lavillette D, Kelly SM, Kabat D (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". J. Virol. 77 (5): 2936–45. doi:10.1128/JVI.77.5.2936-2945.2003. PMC 149750. PMID 12584318.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. doi:10.1038/nature03466. PMID 15815621.
• Chi A, Valencia JC, Hu ZZ, et al. (2007). "Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes". J. Proteome Res. 5 (11): 3135–44. doi:10.1021/pr060363j. PMID 17081065.

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