UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:EAAT1
HGNC Symbol:SLC1A3
HGNC Description:solute carrier family 1 (glial high affinity glutamate transporter), member 3
HGNC ID:10941
Superfamily:SLC
Chromosome:Chr.5(+): 36606457-36688436 GRCh37
Location:5p13
OMIM:600111
OMIM Phenotype:None
Accessions:NM_004172
Nucleotide RefSeq:NM_004172
Protein RefSeq:NP_004163
Entrez:6507
Ensembl:ENSG00000079215
Isoforms:4
Evidence:Substrate In Vitro Evidence: 1. L-Glu, D/L Asp Substrate In Vivo Evidence: 1. Selective inhibition by dihydrokainate and kainite, Arriza J et al, Journal of Neuroscience, 1994: 5559-5569 2. KO mice exhibited motor discoordination, Watase K et al, European Journal of Neuroscience, 1998: 976-988 Tissue Distribution Evidence: 1. Bergmann glia cells, hippocampus, cortex - IHC, in situ hybridization - Peghini P et al, EMBO Journal, 1997: 3822-3832
Tissues:Bergmann glia cells, hippocampus, cortex
Type:protein-coding
Sets:V
PharmGKB ID:PA35828
HPRD ID:02523
Substrates:L-Glu, D/L Asp
Trivial Names:EA6, EAAT1, GLAST, GLAST1
Transcripts:NM_004172.4 [Chr.5(+): 36606457-36688436 GRCh37]
NM_001166696.1 [Chr.5(+): 36606457-36609401 GRCh37]
NM_001166695.1 [Chr.5(+): 36608431-36688436 GRCh37]
XM_005248342.1 [Chr.5(+): 36606692-36688436 GRCh37]
ENST00000265113 [Chr.5(+): 36606457-36688436 GRCh37]
ENST00000381918 [Chr.5(+): 36608431-36688434 GRCh37]
ENST00000416645 [Chr.5(+): 36606719-36613010 GRCh37]
ENST00000502864 [Chr.5(+): 36608592-36630575 GRCh37]
ENST00000504121 [Chr.5(+): 36606713-36608800 GRCh37]
ENST00000505202 [Chr.5(+): 36606992-36629690 GRCh37]
ENST00000505376 [Chr.5(+): 36670923-36677229 GRCh37]
ENST00000506178 [Chr.5(+): 36680449-36686335 GRCh37]
ENST00000506725 [Chr.5(+): 36606719-36613589 GRCh37]
ENST00000509272 [Chr.5(+): 36613201-36671336 GRCh37]
ENST00000512374 [Chr.5(+): 36606713-36609401 GRCh37]
ENST00000513646 [Chr.5(+): 36608280-36629690 GRCh37]
ENST00000513903 [Chr.5(+): 36606541-36629674 GRCh37]
ENST00000514563 [Chr.5(+): 36612912-36671286 GRCh37]

GTEx Expression by Gene and Transcript

The heat map summarizes relative expression by tissue type at two levels of tissue detail, e.g., 'Brain' and 'Brain - Amygdala'. Choose among four calculated expression values, including mean and median RPKM values, and quantile normalized (QN) distributions of these values. (Note that differences between some distributions are subtle.) The coloring is relative to the mean of all displayed values. All values are log base 2. (See also PMT GTEx Expression Plotting.) Click on a transcript or tissue to resort the data.

Tissues:
Expression values:
No expression data exists for SLC1A3.

Variant Data

View all PMT variants for SLC1A3 on UCSC Genome Browser
Showing SNP features for transcript:   
1000 Genomes  

20141104 phase 3 variant call set of the 20130502 sequence freeze and alignments for SNPs and short indels (indels > 255 and structural variants are not included here). This variant set contains 2504 individuals from 26 populations (mouse over population column heading for population sizes).
Showing gene variants in regions defined by NCBI RefSeq exons, putative promoter, and PMT resequencing assays.
Note: Frequencies are calculated directly from reported genotypes and may vary from consensus frequencies reported by the 1000 Genomes project, which relied on additional data and the GATK tool Variant Quality Score Recalibrator.
dbSNP build 142.
Array availability: I - found on Illumina Human1M-Duo BeadChip (2011-04-21)  A - found on Affymetrix Genome-Wide SNP Array 6.0 (2011-06-21)  
Download the SNP table data as a tab-delimited file.

Transmembrane prediction:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.