Neutral amino acid transporter A explained

Neutral amino acid transporter A is a protein that in humans is encoded by the SLC1A4 gene.^{[1] [2] [3]} In humans, it is expressed in the brain, lung, skeletal muscle, intestine and kidney.^[4]

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.^[5]

See also

• Glutamate transporter
• Solute carrier family

Further reading

• Arriza JL, Kavanaugh MP, Fairman WA, Wu YN, Murdoch GH, North RA, Amara SG . 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 . July 1993 . 8101838 . 10.1016/S0021-9258(18)82257-8 . free .
• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides . Gene . 138 . 1–2 . 171–174 . January 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Shafqat S, Tamarappoo BK, Kilberg MS, Puranam RS, McNamara JO, Guadaño-Ferraz A, Fremeau RT . 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 . July 1993 . 8340364 . 10.1016/S0021-9258(18)82263-3 . free . free . 10261/152393 .
• Tamarappoo BK, McDonald KK, Kilberg MS . 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 . March 1996 . 8603078 . 10.1016/0005-2736(95)00259-6 . free .
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–156 . October 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 .
• Marin M, Tailor CS, Nouri A, Kabat D . Sodium-dependent neutral amino acid transporter type 1 is an auxiliary receptor for baboon endogenous retrovirus . Journal of Virology . 74 . 17 . 8085–8093 . September 2000 . 10933718 . 112341 . 10.1128/JVI.74.17.8085-8093.2000 .
• Younes M, Pathak M, Finnie D, Sifers RN, Liu Y, Schwartz MR . Expression of the neutral amino acids transporter ASCT1 in esophageal carcinomas . Anticancer Research . 20 . 5C . 3775–3779 . 2001 . 11268453 .
• Pinilla J, Barber A, Lostao MP . Active transport of alanine by the neutral amino-acid exchanger ASCT1 . Canadian Journal of Physiology and Pharmacology . 79 . 12 . 1023–1029 . December 2001 . 11824937 . 10.1139/cjpp-79-12-1023 .
• Lavillette D, Marin M, Ruggieri A, Mallet F, Cosset FL, Kabat D . 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 . July 2002 . 12050356 . 136247 . 10.1128/JVI.76.13.6442-6452.2002 .
• Marin M, Lavillette D, Kelly SM, Kabat D . 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 . March 2003 . 12584318 . 149750 . 10.1128/JVI.77.5.2936-2945.2003 .
• Chi A, Valencia JC, Hu ZZ, Watabe H, Yamaguchi H, Mangini NJ, Huang H, Canfield VA, Cheng KC, Yang F, Abe R, Yamagishi S, Shabanowitz J, Hearing VJ, Wu C, Appella E, Hunt DF . Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes . Journal of Proteome Research . 5 . 11 . 3135–3144 . November 2006 . 17081065 . 10.1021/pr060363j .

Notes and References

1. Hofmann K, Düker M, Fink T, Lichter P, Stoffel W . Human neutral amino acid transporter ASCT1: structure of the gene (SLC1A4) and localization to chromosome 2p13-p15 . Genomics . 24 . 1 . 20–26 . November 1994 . 7896285 . 10.1006/geno.1994.1577 .
2. Zerangue N, Kavanaugh MP . ASCT-1 is a neutral amino acid exchanger with chloride channel activity . The Journal of Biological Chemistry . 271 . 45 . 27991–27994 . November 1996 . 8910405 . 10.1074/jbc.271.45.27991 . free .
3. Web site: Entrez Gene: SLC1A4 solute carrier family 1 (glutamate/neutral amino acid transporter), member 4.
4. Freidman N, Chen I, Wu Q, Briot C, Holst J, Font J, Vandenberg R, Ryan R . Amino Acid Transporters and Exchangers from the SLC1A Family: Structure, Mechanism and Roles in Physiology and Cancer . Neurochemical Research . 45 . 6 . 1268–1286 . June 2020 . 31981058 . 10.1007/s11064-019-02934-x .
5. Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E . Novel MITF targets identified using a two-step DNA microarray strategy . Pigment Cell & Melanoma Research . 21 . 6 . 665–676 . December 2008 . 19067971 . 10.1111/j.1755-148X.2008.00505.x . 24698373 . free .