Description: Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA. RefSeq Summary (NM_004172): This gene encodes a member of a member of a high affinity glutamate transporter family. This gene functions in the termination of excitatory neurotransmission in central nervous system. Mutations are associated with episodic ataxia, Type 6. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2014]. Transcript (Including UTRs) Position: hg19 chr5:36,606,457-36,688,436 Size: 81,980 Total Exon Count: 10 Strand: + Coding Region Position: hg19 chr5:36,608,526-36,686,371 Size: 77,846 Coding Exon Count: 9
ID:EAA1_HUMAN DESCRIPTION: RecName: Full=Excitatory amino acid transporter 1; AltName: Full=Sodium-dependent glutamate/aspartate transporter 1; Short=GLAST-1; AltName: Full=Solute carrier family 1 member 3; FUNCTION: Transports L-glutamate and also L- and D-aspartate. Essential for terminating the postsynaptic action of glutamate by rapidly removing released glutamate from the synaptic cleft. Acts as a symport by cotransporting sodium. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Highly expressed in cerebellum, but also found in frontal cortex, hippocampus and basal ganglia. PTM: Glycosylated. DISEASE: Defects in SLC1A3 are the cause of episodic ataxia type 6 (EA6) [MIM:612656]. EA6 is characterized by episodic ataxia, seizures, migraine and alternating hemiplegia. SIMILARITY: Belongs to the sodium:dicarboxylate (SDF) symporter (TC 2.A.23) family. SLC1A3 subfamily. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC1A3";
Cholesterol, LDL Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903299]
Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00375 - Sodium:dicarboxylate symporter family
ModBase Predicted Comparative 3D Structure on P43003
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0001504 neurotransmitter uptake GO:0006536 glutamate metabolic process GO:0006537 glutamate biosynthetic process GO:0006811 ion transport GO:0006865 amino acid transport GO:0007268 chemical synaptic transmission GO:0007605 sensory perception of sound GO:0009416 response to light stimulus GO:0009449 gamma-aminobutyric acid biosynthetic process GO:0009611 response to wounding GO:0014047 glutamate secretion GO:0015813 L-glutamate transport GO:0021545 cranial nerve development GO:0031223 auditory behavior GO:0042493 response to drug GO:0046677 response to antibiotic GO:0048667 cell morphogenesis involved in neuron differentiation GO:0050806 positive regulation of synaptic transmission GO:0050885 neuromuscular process controlling balance GO:0051938 L-glutamate import GO:0070779 D-aspartate import GO:0071805 potassium ion transmembrane transport GO:0098712 L-glutamate import across plasma membrane GO:1902476 chloride transmembrane transport
KJ897561 - Synthetic construct Homo sapiens clone ccsbBroadEn_06955 SLC1A3 gene, encodes complete protein. AK312304 - Homo sapiens cDNA, FLJ92609, Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), nuclear gene encoding mitochondrial protein, mRNA. BC037310 - Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3, mRNA (cDNA clone MGC:41861 IMAGE:5264000), complete cds. JD248222 - Sequence 229246 from Patent EP1572962. AK057823 - Homo sapiens cDNA FLJ25094 fis, clone CBR00751. BC022285 - Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3, mRNA (cDNA clone IMAGE:4809452), with apparent retained intron. BC054475 - Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3, mRNA (cDNA clone IMAGE:4655817), complete cds. AK293886 - Homo sapiens cDNA FLJ58395 complete cds, highly similar to Excitatory amino acid transporter 1. AK295754 - Homo sapiens cDNA FLJ57939 complete cds, moderately similar to Excitatory amino acid transporter 1. AK295032 - Homo sapiens cDNA FLJ57928 complete cds, highly similar to Excitatory amino acid transporter 1. JD368171 - Sequence 349195 from Patent EP1572962. D26443 - Homo sapiens hGluT-1 mRNA for glutamate transporter, complete cds. L19158 - Human glutamate transporter mRNA sequence. JD258138 - Sequence 239162 from Patent EP1572962. JD083642 - Sequence 64666 from Patent EP1572962. U03504 - Human excitatory amino acid transporter1 mRNA, complete cds. AB529121 - Synthetic construct DNA, clone: pF1KB4900, Homo sapiens SLC1A3 gene for solute carrier family 1 (glial high affinity glutamate transporter), member 3, without stop codon, in Flexi system. AY954110 - Homo sapiens glutamate transporter variant EAAT1ex9skip (SLC1A3) mRNA, complete cds, alternatively spliced. JD464072 - Sequence 445096 from Patent EP1572962. JD132104 - Sequence 113128 from Patent EP1572962. AF070609 - Homo sapiens clone 24678 mRNA sequence. JD288247 - Sequence 269271 from Patent EP1572962. JD563836 - Sequence 544860 from Patent EP1572962. JD451075 - Sequence 432099 from Patent EP1572962. JD102759 - Sequence 83783 from Patent EP1572962. JD524477 - Sequence 505501 from Patent EP1572962. JD250182 - Sequence 231206 from Patent EP1572962. JD550920 - Sequence 531944 from Patent EP1572962. JD470092 - Sequence 451116 from Patent EP1572962. JD079986 - Sequence 61010 from Patent EP1572962. JD145790 - Sequence 126814 from Patent EP1572962. JD512239 - Sequence 493263 from Patent EP1572962. JD043279 - Sequence 24303 from Patent EP1572962. JD475347 - Sequence 456371 from Patent EP1572962. JD284559 - Sequence 265583 from Patent EP1572962. JD122570 - Sequence 103594 from Patent EP1572962. JD455891 - Sequence 436915 from Patent EP1572962.
Biochemical and Signaling Pathways
BioCarta from NCI Cancer Genome Anatomy Project h_malatePathway - Malate-aspartate shuttle
Reactome (by CSHL, EBI, and GO)
Protein P43003 (Reactome details) participates in the following event(s):
R-HSA-210404 SLC1A1-3,6,7 exchange L-Glu, H+ and 3Na+ for K+ R-HSA-428015 SLC1A1,2,3,6,7 cotransport L-Glu,L-Asp,D-Asp,H+,3Na+ from extracellular region to cytosol R-HSA-210439 glutamate uptake by astrocytes R-HSA-210500 Glutamate Neurotransmitter Release Cycle R-HSA-425374 Amino acid and oligopeptide SLC transporters R-HSA-425393 Metabolism of nitrogenous molecules R-HSA-210455 Astrocytic Glutamate-Glutamine Uptake And Metabolism R-HSA-112310 Neurotransmitter release cycle R-HSA-425407 SLC-mediated transmembrane transport R-HSA-112313 Neurotransmitter uptake and metabolism In glial cells R-HSA-112315 Transmission across Chemical Synapses R-HSA-382551 Transport of small molecules R-HSA-112316 Neuronal System
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