Neutral amino acid transporter A is a protein that in humans is encoded by the SLC1A4 gene.[5][6][7]
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Transcription
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
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, 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.
- ^ 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.
- ^ "Entrez Gene: SLC1A4 solute carrier family 1 (glutamate/neutral amino acid transporter), member 4".
- ^ 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.
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