Neutral amino acid transporter A

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 20,252,180 bp [2] End 20,282,713 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm spinal ganglia entorhinal cortex internal globus pallidus nucleus accumbens external globus pallidus middle temporal gyrus caudate nucleus superior vestibular nucleus synovial joint Top expressed in supraoptic nucleus paraventricular nucleus of hypothalamus arcuate nucleus ascending aorta crypt of lieberkuhn of small intestine aortic valve fossa median eminence medial vestibular nucleus ventromedial nucleus More reference expression data BioGPS 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 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: 20.25 – 20.28 Mb PubMed search [3] [4]
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]}

Function

The transporter is responsible for transport of L-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. ^[8]

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. S2CID   24698373.

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. doi: 10.1016/S0021-9258(18)82257-8 . 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. doi: 10.1016/S0021-9258(18)82263-3 . hdl: 10261/152393 . 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. Bibcode:2002PNAS...9916899M. 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. Bibcode:2005Natur.434..724H. 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.