SLC1A3 (solute carrier family 1 member 3)

2003-05-01  

Identity

HGNC
SLC1A3
LOCATION
5p13.2
LOCUSID
6507
ALIAS
EA6,EAAT1,GLAST,GLAST1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6507
MIM: 600111
HGNC: 10941
Ensembl: ENSG00000079215

Variants:

dbSNP: 6507
ClinVar: 6507
TCGA: ENSG00000079215
COSMIC: SLC1A3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000079215ENST00000265113P43003
ENSG00000079215ENST00000265113A0A024R050
ENSG00000079215ENST00000381918P43003
ENSG00000079215ENST00000505202E7EUV6
ENSG00000079215ENST00000513646E7EUV6
ENSG00000079215ENST00000513903E7EUS7
ENSG00000079215ENST00000612708A0A087X0U3
ENSG00000079215ENST00000613445A0A087WT87

Expression (GTEx)

0
50
100
150
200
250
300
350
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Glutamatergic synapseKEGGko04724
Glutamatergic synapseKEGGhsa04724
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Release CycleREACTOMER-HSA-112310
Glutamate Neurotransmitter Release CycleREACTOMER-HSA-210500
Neurotransmitter uptake and Metabolism In Glial CellsREACTOMER-HSA-112313
Astrocytic Glutamate-Glutamine Uptake And MetabolismREACTOMER-HSA-210455
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptidesREACTOMER-HSA-425393

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
197363512009Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.151
175819482007Variations in promoter activity reveal a differential expression and physiology of glutamate transporters by glia in the developing and mature CNS.148
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
217070712011Transcriptomic and quantitative proteomic analysis of transporters and drug metabolizing enzymes in freshly isolated human brain microvessels.85
161161112005Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures.78
186788772008Time-resolved mechanism of extracellular gate opening and substrate binding in a glutamate transporter.51
191561682009Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.46
250363852014Mesenchymal stem cells deliver exogenous miRNAs to neural cells and induce their differentiation and glutamate transporter expression.40
191393062009Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake.39
160613892006Increased expression and function of glutamate transporters in multiple sclerosis.35

Citation

Dessen P

SLC1A3 (solute carrier family 1 member 3)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/42312/slc1a3