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Aliases for SLC1A3 Gene

Aliases for SLC1A3 Gene

  • Solute Carrier Family 1 Member 3 2 3 4 5
  • Solute Carrier Family 1 (Glial High Affinity Glutamate Transporter), Member 3 2 3
  • Sodium-Dependent Glutamate/Aspartate Transporter 1 3 4
  • GLAST-1 3 4
  • GLAST1 3 4
  • EAAT1 3 4
  • GLAST 3 4
  • Glutamate Transporter Variant EAAT1ex9skip 2
  • Excitatory Amino Acid Transporter 1 3
  • EA6 3

External Ids for SLC1A3 Gene

Previous GeneCards Identifiers for SLC1A3 Gene

  • GC05P036787
  • GC05P037672
  • GC05P036652
  • GC05P036642
  • GC05P036559

Summaries for SLC1A3 Gene

Entrez Gene Summary for SLC1A3 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 splicing results in multiple transcript variants.[provided by RefSeq, Feb 2014]

GeneCards Summary for SLC1A3 Gene

SLC1A3 (Solute Carrier Family 1 Member 3) is a Protein Coding gene. Diseases associated with SLC1A3 include Episodic Ataxia, Type 6 and Episodic Ataxia. Among its related pathways are Circadian entrainment and Synaptic vesicle cycle. GO annotations related to this gene include amino acid binding and glutamate binding. An important paralog of this gene is SLC1A6.

UniProtKB/Swiss-Prot for SLC1A3 Gene

  • Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:7521911, PubMed:8123008, PubMed:20477940, PubMed:26690923, PubMed:28032905, PubMed:28424515). Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion (PubMed:20477940). Mediates Cl(-) flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na(+) symport (PubMed:20477940). Plays a redundant role in the rapid removal of released glutamate from the synaptic cleft, which is essential for terminating the postsynaptic action of glutamate (By similarity).

Tocris Summary for SLC1A3 Gene

  • Glutamate transporters, also known as excitatory amino acid transporters (EAATs), are sodium- and potassium-dependent members of the solute carrier family 6 (SLC1), widely distributed throughout the brain. There are five EAAT subtypes, each with a specific distribution.

Gene Wiki entry for SLC1A3 Gene

Additional gene information for SLC1A3 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC1A3 Gene

Genomics for SLC1A3 Gene

Regulatory Elements for SLC1A3 Gene

Enhancers for SLC1A3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05H036688 2 FANTOM5 Ensembl ENCODE dbSUPER 12.1 +83.6 83647 2 PKNOX1 SIN3A ZNF2 ZNF416 ZNF143 ZNF207 SP3 REST KAT8 ZNF610 WDR70 NIPBL NUP155 ENSG00000250155 ENSG00000250455 LOC100506406 LOC105374724 SLC1A3 RANBP3L NADK2-AS1
GH05H036441 1.5 Ensembl ENCODE dbSUPER 15.8 -162.8 -162779 3 ATF1 ARNT ZNF133 TCF12 GATA2 FOS CAVIN1 NCOA1 ZNF518A ZNF592 NIPBL SLC1A3 OFD1P17 WDR70 SPEF2 NUP155 RNA5SP181 LOC105374725
GH05H036691 1.6 FANTOM5 Ensembl ENCODE dbSUPER 13.7 +86.1 86059 2 GTF2F1 CTCF RB1 JUN MAX RAD21 RFX5 ZNF121 SMC3 ZNF143 ENSG00000250155 SLC1A3 NADK2 RANBP3L NIPBL ENSG00000279400 GC05P036714
GH05H036656 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12.3 +51.6 51594 2 TBP FOXA2 BRCA1 RAD21 RFX5 YY1 SMARCC2 RCOR1 FOS DEK WDR70 NIPBL SLC1A3 ENSG00000279400 ENSG00000274441
GH05H036450 0.9 ENCODE dbSUPER 17.4 -154.5 -154462 3 STAT1 NR4A1 CEBPB USF2 EP300 GATA3 JUND RAD51 POLR2A FOS SLC1A3 RNA5SP181 LOC105374725
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC1A3 on UCSC Golden Path with GeneCards custom track

Promoters for SLC1A3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000179557 845 2401 FEZF1 GLI4 BRCA1 ZNF2 FOS KLF7 SP3 YY2 JUNB REST

Genomic Location for SLC1A3 Gene

Chromosome:
5
Start:
36,606,355 bp from pter
End:
36,688,334 bp from pter
Size:
81,980 bases
Orientation:
Plus strand

Genomic View for SLC1A3 Gene

Genes around SLC1A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC1A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC1A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC1A3 Gene

Proteins for SLC1A3 Gene

  • Protein details for SLC1A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P43003-EAA1_HUMAN
    Recommended name:
    Excitatory amino acid transporter 1
    Protein Accession:
    P43003
    Secondary Accessions:
    • B2R5T3
    • Q4JCQ8

    Protein attributes for SLC1A3 Gene

    Size:
    542 amino acids
    Molecular mass:
    59572 Da
    Quaternary structure:
    • Homotrimer.

    Three dimensional structures from OCA and Proteopedia for SLC1A3 Gene

    Alternative splice isoforms for SLC1A3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC1A3 Gene

Post-translational modifications for SLC1A3 Gene

Antibody Products

  • R&D Systems Antibodies for SLC1A3 (EAAT1/GLAST-1)
  • Cell Signaling Technology (CST) Antibodies for SLC1A3 (SLC1A3)
  • Abcam antibodies for SLC1A3
  • Santa Cruz Biotechnology (SCBT) Antibodies for SLC1A3

No data available for DME Specific Peptides for SLC1A3 Gene

Domains & Families for SLC1A3 Gene

Gene Families for SLC1A3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC1A3 Gene

Graphical View of Domain Structure for InterPro Entry

P43003

UniProtKB/Swiss-Prot:

EAA1_HUMAN :
  • Contains eight transmembrane regions plus two helical hairpins that dip into the membrane. These helical hairpin structures play an important role in the transport process. The first enters the membrane from the cytoplasmic side, the second one from the extracellular side. During the transport cycle, the regions involved in amino acid transport, and especially the helical hairpins, move vertically by about 15-18 Angstroms, alternating between exposure to the aqueous phase and reinsertion in the lipid bilayer. In contrast, the regions involved in trimerization do not move.
  • Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A3 subfamily.
Domain:
  • Contains eight transmembrane regions plus two helical hairpins that dip into the membrane. These helical hairpin structures play an important role in the transport process. The first enters the membrane from the cytoplasmic side, the second one from the extracellular side. During the transport cycle, the regions involved in amino acid transport, and especially the helical hairpins, move vertically by about 15-18 Angstroms, alternating between exposure to the aqueous phase and reinsertion in the lipid bilayer. In contrast, the regions involved in trimerization do not move.
Family:
  • Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A3 subfamily.
genes like me logo Genes that share domains with SLC1A3: view

Function for SLC1A3 Gene

Molecular function for SLC1A3 Gene

GENATLAS Biochemistry:
solute carrier family 1,member A3,glial high affinity glutamate/aspartate transporter in the cerebellum,located in astrocytes,involved in development and neonatal hypoxic-ischemic damage
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=525 uM for L-glutamate {ECO:0000269 PubMed:26690923};
UniProtKB/Swiss-Prot Function:
Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:7521911, PubMed:8123008, PubMed:20477940, PubMed:26690923, PubMed:28032905, PubMed:28424515). Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion (PubMed:20477940). Mediates Cl(-) flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na(+) symport (PubMed:20477940). Plays a redundant role in the rapid removal of released glutamate from the synaptic cleft, which is essential for terminating the postsynaptic action of glutamate (By similarity).

Phenotypes From GWAS Catalog for SLC1A3 Gene

Gene Ontology (GO) - Molecular Function for SLC1A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005313 L-glutamate transmembrane transporter activity IDA 7521911
GO:0005314 high-affinity glutamate transmembrane transporter activity IMP,TAS --
GO:0015171 amino acid transmembrane transporter activity TAS --
GO:0015172 acidic amino acid transmembrane transporter activity IEA --
GO:0015293 symporter activity IEA --
genes like me logo Genes that share ontologies with SLC1A3: view
genes like me logo Genes that share phenotypes with SLC1A3: view

Human Phenotype Ontology for SLC1A3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC1A3 Gene

MGI Knock Outs for SLC1A3:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC1A3

CRISPR Products

miRNA for SLC1A3 Gene

miRTarBase miRNAs that target SLC1A3

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC1A3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC1A3 Gene

Localization for SLC1A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC1A3 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC1A3 gene
Compartment Confidence
plasma membrane 5
extracellular 3
nucleus 3
cytoskeleton 2
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC1A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IMP 8123008
GO:0009986 cell surface IEA --
GO:0016020 membrane TAS,IEA 7521911
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC1A3: view

Pathways & Interactions for SLC1A3 Gene

genes like me logo Genes that share pathways with SLC1A3: view

Gene Ontology (GO) - Biological Process for SLC1A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001504 neurotransmitter uptake TAS 8647279
GO:0006536 glutamate metabolic process IEA --
GO:0006537 glutamate biosynthetic process IEA --
GO:0006810 transport IEA --
GO:0006811 ion transport TAS --
genes like me logo Genes that share ontologies with SLC1A3: view

No data available for SIGNOR curated interactions for SLC1A3 Gene

Drugs & Compounds for SLC1A3 Gene

(36) Drugs for SLC1A3 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutamic Acid Approved Nutra Full agonist, Agonist, Target 236
DL-TBOA Pharma Inhibition, Inhibitor inhibitor of excitatory amino acid transporters, Selective non-transportable inhibitor of EAATs 0
7-Chlorokynurenic acid sodium salt Pharma Potent competitive inhibitor of L-glutamate uptake. Sodium salt of 7-Chlorokynurenic acid (Cat. No. 0237) 0
Dihydrokainic acid Pharma EAAT2 (GLT-1)-selective non-transportable inhibitor of L-glutamate and L-aspartate uptake 0
L-trans-2,4-PDC Pharma Transportable EAAT1-4 inhibitor/non-transportable EAAT5 inhibitor 0

(15) Additional Compounds for SLC1A3 Gene - From: Novoseek, HMDB, and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
[<sup>3</sup>H]ETB-TBOA

(5) Tocris Compounds for SLC1A3 Gene

Compound Action Cas Number
7-Chlorokynurenic acid sodium salt Potent competitive inhibitor of L-glutamate uptake. Sodium salt of 7-Chlorokynurenic acid (Cat. No. 0237) 1263094-00-3
Dihydrokainic acid EAAT2 (GLT-1)-selective non-transportable inhibitor of L-glutamate and L-aspartate uptake 52497-36-6
DL-TBOA Selective non-transportable inhibitor of EAATs 205309-81-5
L-trans-2,4-PDC Transportable EAAT1-4 inhibitor/non-transportable EAAT5 inhibitor 64769-66-0
TFB-TBOA High affinity EAAT1 and EAAT2 blocker 480439-73-4

(17) ApexBio Compounds for SLC1A3 Gene

Compound Action Cas Number
(±)-HIP-A 227619-64-9
(±)-HIP-B 227619-65-0
(±)-threo-3-Methylglutamic acid 63088-04-0
7-Chlorokynurenic acid 18000-24-3
7-Chlorokynurenic acid sodium salt 1263094-00-3
cis-ACBD 73550-55-7
Congo Red 573-58-0
Dihydrokainic acid 52497-36-6
DL-TBOA inhibitor of excitatory amino acid transporters 205309-81-5
L-(-)-threo-3-Hydroxyaspartic acid 7298-99-9
L-CCG-lll 117857-95-1
LDN 212320 894002-50-7
L-trans-2,4-PDC 64769-66-0
MPDC 159262-32-5
TFB-TBOA 480439-73-4
UCPH 101 1118460-77-7
WAY 213613 868359-05-1
genes like me logo Genes that share compounds with SLC1A3: view

Drug Products

Transcripts for SLC1A3 Gene

Unigene Clusters for SLC1A3 Gene

Solute carrier family 1 (glial high affinity glutamate transporter), member 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC1A3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SLC1A3 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b · 14c
SP1: - - - - - -
SP2: - - - -
SP3: - -
SP4: - - - -
SP5: - -
SP6:
SP7:
SP8: -

Relevant External Links for SLC1A3 Gene

GeneLoc Exon Structure for
SLC1A3
ECgene alternative splicing isoforms for
SLC1A3

Expression for SLC1A3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC1A3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC1A3 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x5.8), Brain - Amygdala (x5.6), Brain - Caudate (basal ganglia) (x5.2), Brain - Putamen (basal ganglia) (x4.8), and Brain - Frontal Cortex (BA9) (x4.3).

Protein differential expression in normal tissues from HIPED for SLC1A3 Gene

This gene is overexpressed in Retina (22.2), Brain (19.0), Frontal cortex (18.8), and Spinal cord (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC1A3 Gene



Protein tissue co-expression partners for SLC1A3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC1A3 Gene:

SLC1A3

SOURCE GeneReport for Unigene cluster for SLC1A3 Gene:

Hs.481918

mRNA Expression by UniProt/SwissProt for SLC1A3 Gene:

P43003-EAA1_HUMAN
Tissue specificity: Detected in brain (PubMed:8218410, PubMed:7521911, PubMed:8123008). 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 frontal cortex, hippocampus and basal ganglia (PubMed:7521911).

Evidence on tissue expression from TISSUES for SLC1A3 Gene

  • Nervous system(5)
  • Eye(3.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC1A3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
  • neck
Limb:
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with SLC1A3: view

Primer Products

Orthologs for SLC1A3 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC1A3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC1A3 33 34
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia GLAST 34
  • 97 (a)
OneToOne
SLC1A3 33
  • 91.27 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC1A3 34
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC1A3 33 34
  • 91.27 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC1A3 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc1a3 33 16 34
  • 89.18 (n)
rat
(Rattus norvegicus)
Mammalia Slc1a3 33
  • 88.56 (n)
chicken
(Gallus gallus)
Aves SLC1A3 33 34
  • 79.52 (n)
lizard
(Anolis carolinensis)
Reptilia SLC1A3 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc1a3 33
  • 77.43 (n)
Str.15311 33
African clawed frog
(Xenopus laevis)
Amphibia MGC68789 33
zebrafish
(Danio rerio)
Actinopterygii slc1a3b 34
  • 76 (a)
OneToMany
slc1a3a 33 34
  • 71.34 (n)
Dr.28289 33
fruit fly
(Drosophila melanogaster)
Insecta Eaat1 35
  • 46 (a)
Eaat2 35
  • 43 (a)
worm
(Caenorhabditis elegans)
Secernentea glt-5 33
  • 56.33 (n)
glt-2 35
  • 53 (a)
Y53C12A.2 35
  • 48 (a)
T22E5.2 35
  • 47 (a)
K08F4.4 35
  • 45 (a)
R05G6.6 35
  • 38 (a)
W03G1.1 35
  • 36 (a)
Species where no ortholog for SLC1A3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC1A3 Gene

ENSEMBL:
Gene Tree for SLC1A3 (if available)
TreeFam:
Gene Tree for SLC1A3 (if available)

Paralogs for SLC1A3 Gene

Paralogs for SLC1A3 Gene

(6) SIMAP similar genes for SLC1A3 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with SLC1A3: view

Variants for SLC1A3 Gene

Sequence variations from dbSNP and Humsavar for SLC1A3 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs137852619 Pathogenic, Episodic ataxia 6 (EA6) [MIM:612656] 36,679,635(+) TGCCC(C/G)CGTGG reference, missense
rs137852620 Pathogenic 36,674,080(+) AAGCC(A/T)GCTTT intron-variant, reference, missense
rs138085358 Pathogenic 36,686,136(+) GTCAC(A/G)ACATG reference, missense
rs111227646 Likely benign 36,687,622(+) GGGAA(A/G)CAAAA utr-variant-3-prime
rs114505475 Likely benign 36,687,319(+) AGCTA(C/G)GAAAG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SLC1A3 Gene

Variant ID Type Subtype PubMed ID
esv2762516 CNV loss 21179565
esv3604724 CNV gain 21293372
nsv477587 CNV novel sequence insertion 20440878
nsv526573 CNV loss 19592680
nsv830263 CNV gain 17160897

Variation tolerance for SLC1A3 Gene

Residual Variation Intolerance Score: 34.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.97; 49.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC1A3 Gene

Human Gene Mutation Database (HGMD)
SLC1A3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC1A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC1A3 Gene

Disorders for SLC1A3 Gene

MalaCards: The human disease database

(19) MalaCards diseases for SLC1A3 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
episodic ataxia, type 6
  • episodic ataxia type 6
episodic ataxia
  • isaacs syndrome
wernicke encephalopathy
  • wernicke's disease
alternating hemiplegia of childhood
  • ahc
hemiplegia
  • infantile hemiplegia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

EAA1_HUMAN
  • Episodic 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.

Relevant External Links for SLC1A3

Genetic Association Database (GAD)
SLC1A3
Human Genome Epidemiology (HuGE) Navigator
SLC1A3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC1A3
genes like me logo Genes that share disorders with SLC1A3: view

No data available for Genatlas for SLC1A3 Gene

Publications for SLC1A3 Gene

  1. Association study of polymorphisms in the glutamate transporter genes SLC1A1, SLC1A3, and SLC1A6 with schizophrenia. (PMID: 17221839) Deng X … Fukumaki Y (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007) 3 22 45 60
  2. Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. (PMID: 16116111) Jen JC … Baloh RW (Neurology 2005) 3 4 22 60
  3. A novel alternative splicing form of excitatory amino acid transporter 1 is a negative regulator of glutamate uptake. (PMID: 16042756) Vallejo-Illarramendi A … Matute C (Journal of neurochemistry 2005) 3 4 22 60
  4. Human high affinity, Na(+)-dependent L-glutamate/L-aspartate transporter GLAST-1 (EAAT-1): gene structure and localization to chromosome 5p11-p12. (PMID: 8647279) Stoffel W … Lichter P (FEBS letters 1996) 3 4 22 60
  5. Functional comparisons of three glutamate transporter subtypes cloned from human motor cortex. (PMID: 7521911) Arriza JL … Amara SG (The Journal of neuroscience : the official journal of the Society for Neuroscience 1994) 2 3 4 60

Products for SLC1A3 Gene

Sources for SLC1A3 Gene

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