Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6507
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 1 member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC1A3
Synonyms (NCBI Gene) Gene synonyms aliases
EA6, EAAT1, GLAST, GLAST1
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5p13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 sp
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs137852619 C>G Pathogenic Missense variant, coding sequence variant, genic downstream transcript variant
rs137852620 T>A,G Pathogenic Missense variant, coding sequence variant, intron variant, genic downstream transcript variant
rs138085358 G>A Pathogenic, uncertain-significance Missense variant, coding sequence variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022261 hsa-miR-124-3p Microarray 18668037
MIRT1354051 hsa-miR-1262 CLIP-seq
MIRT1354052 hsa-miR-130a CLIP-seq
MIRT1354053 hsa-miR-130b CLIP-seq
MIRT1354054 hsa-miR-19a CLIP-seq
Transcription factors
Transcription factor Regulation Reference
SP3 Unknown 14713304
USF1 Unknown 14713304
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001504 Process Neurotransmitter uptake TAS 8647279
GO:0005313 Function L-glutamate transmembrane transporter activity IBA
GO:0005313 Function L-glutamate transmembrane transporter activity IDA 7521911
GO:0005313 Function L-glutamate transmembrane transporter activity IEA
GO:0005314 Function High-affinity L-glutamate transmembrane transporter activity IDA 26690923
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600111 10941 ENSG00000079215
Protein
UniProt ID P43003
Protein name Excitatory amino acid transporter 1 (Sodium-dependent glutamate/aspartate transporter 1) (GLAST-1) (Solute carrier family 1 member 3)
Protein function Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:20477940, PubMed:26690923, PubMed:28032905, PubMed:28424515, PubMed:7521911, PubMed:8123008). Functions a
PDB 5LLM , 5LLU , 5LM4 , 5MJU , 7NPW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00375 SDF 50 497 Sodium:dicarboxylate symporter family Family
Tissue specificity TISSUE SPECIFICITY: Detected in brain (PubMed:7521911, PubMed:8123008, PubMed:8218410). Detected at very much lower levels in heart, lung, placenta and skeletal muscle (PubMed:7521911, PubMed:8123008). Highly expressed in cerebellum, but also found in fro
Sequence
Sequence length 542
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Synaptic vesicle cycle
Glutamatergic synapse
Huntington disease
  Astrocytic Glutamate-Glutamine Uptake And Metabolism
Glutamate Neurotransmitter Release Cycle
Transport of inorganic cations/anions and amino acids/oligopeptides
Defective SLC1A3 causes episodic ataxia 6 (EA6)
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Episodic ataxia episodic ataxia type 6 rs137852619, rs137852620 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Aggressive Periodontitis Aggressive periodontitis N/A N/A GWAS
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Spastic Ataxia spastic ataxia N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 11826152, 28812276, 36544231, 39694320
Alzheimer Disease Inhibit 21743130
Ataxia Associate 28812276
Attention Deficit Disorder with Hyperactivity Associate 30953407, 34573389
Brain Injuries Traumatic Associate 28812276
Carcinoma Renal Cell Associate 37033923
COVID 19 Associate 37033923
Dementia Associate 11826152
Depressive Disorder Associate 32171272
Depressive Disorder Major Inhibit 16230605