Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6505
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 1 member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC1A1
Synonyms (NCBI Gene) Gene synonyms aliases
DCBXA, EAAC1, EAAT3, SCZD18, hEAAC1
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p24.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the high-affinity glutamate transporters that play an essential role in transporting glutamate across plasma membranes. In brain, these transporters are crucial in terminating the postsynaptic action of the neurotransmitter g
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018599 hsa-miR-335-5p Microarray 18185580
MIRT054678 hsa-miR-96-5p Immunohistochemistry, Luciferase reporter assay, qRT-PCR 24304186
MIRT107790 hsa-miR-186-5p HITS-CLIP 23824327
MIRT649692 hsa-miR-652-5p HITS-CLIP 23824327
MIRT107791 hsa-miR-500a-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001662 Process Behavioral fear response IEA
GO:0001975 Process Response to amphetamine IEA
GO:0002027 Process Regulation of heart rate IEA
GO:0005253 Function Monoatomic anion channel activity IEA
GO:0005313 Function L-glutamate transmembrane transporter activity IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
133550 10939 ENSG00000106688
Protein
UniProt ID P43005
Protein name Excitatory amino acid transporter 3 (Excitatory amino-acid carrier 1) (Neuronal and epithelial glutamate transporter) (Sodium-dependent glutamate/aspartate transporter 3) (Solute carrier family 1 member 1)
Protein function Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:21123949, PubMed:26690923, PubMed:33658209, PubMed:7521911, PubMed:7914198, PubMed:8857541). Can also tra
PDB 6S3Q , 6X2L , 6X2Z , 6X3E , 6X3F , 7NSG , 8CTC , 8CTD , 8CUA , 8CUD , 8CUI , 8CUJ , 8CV2 , 8CV3 , 9D66 , 9D67 , 9D68 , 9D69 , 9D6A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00375 SDF 20 465 Sodium:dicarboxylate symporter family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues tested including liver, muscle, testis, ovary, retinoblastoma cell line, neurons and brain (in which there was dense expression in substantia nigra, red nucleus, hippocampus and in cerebral cortical layers). {E
Sequence
Sequence length 524
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Synaptic vesicle cycle
Glutamatergic synapse
Protein digestion and absorption
  Glutamate Neurotransmitter Release Cycle
Transport of inorganic cations/anions and amino acids/oligopeptides
Defective SLC1A1 is implicated in schizophrenia 18 (SCZD18) and dicarboxylic aminoaciduria (DCBXA)
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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
Hot Water Reflex Epilepsy hot water reflex epilepsy N/A N/A GenCC
Hypertension Ischemic stroke in hypertension N/A N/A GWAS
Leprosy Leprosy N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Associate 32566650
Alzheimer Disease Associate 18624794
Alzheimer Disease Inhibit 21743130
Anxiety Associate 20155310
Anxiety Disorders Associate 20155310, 32507125
Autism Spectrum Disorder Associate 19360657, 20155310, 31209396
Autistic Disorder Associate 19360657
Breast Neoplasms Associate 38310106
Carcinoma Renal Cell Associate 30862152
Colitis Ulcerative Associate 32566650