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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]
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, 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.
Further reading
- 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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