From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
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
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 .
This article incorporates text from the
United States National Library of Medicine , which is in the
public domain .
By group
SLC1–10
(1): (2): (3): (4): (5): (6): (7): (8): (9): (10):
SLC11–20
(11): (12): (13): (14): (15): (16): (17): (18): (19): (20):
SLC21–30
(21): (22): (23): (24): (25): (26): (27): (28): (29): (30):
SLC31–40
(31): (32): (33): (34): (35): (36): (37): (38): (39): (40):
SLC41–48
(41): (42): (43): (44): (45): (46): (47): (48):