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MGP002846

UniProt Annotations

Entry Information
Gene Namesolute carrier family 1 (glial high affinity glutamate transporter), member 3
Protein Entry
UniProt IDQ8N169
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P43003-1; Sequence=Displayed; Name=2; Synonyms=EAAT1ex9skip; IsoId=P43003-2; Sequence=VSP_043913; Note=Expressed throughout the CNS, both in gray matter and axonal tracts, at levels ranging between 10% and 20% of isoform 1. Localizes to ER, has no functional glutamate uptake activity, and exerts a dominant negative effect isoform 1.;
DiseaseEpisodic ataxia 6 (EA6) [MIM:612656]: A disorder characterized by episodic ataxia, seizures, migraine and alternating hemiplegia. {ECO:0000269|PubMed:16116111}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionTransports 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.
PtmGlycosylated.
SimilarityBelongs to the sodium:dicarboxylate (SDF) symporter (TC 2.A.23) family. SLC1A3 subfamily. {ECO:0000305}.
Subcellular LocationMembrane; Multi-pass membrane protein.
Tissue SpecificityHighly expressed in cerebellum, but also found in frontal cortex, hippocampus and basal ganglia.
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