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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] See more...
Aliases for SLC1A3 Gene
Aliases for SLC1A3 Gene
External Ids for SLC1A3 Gene
- HGNC: 10941
- Entrez Gene: 6507
- Ensembl: ENSG00000079215
- OMIM: 600111
- UniProtKB: P43003
Previous GeneCards Identifiers for SLC1A3 Gene
- GC05P036787
- GC05P037672
- GC05P036652
- GC05P036642
- GC05P036559
Summaries 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 Alternating Hemiplegia Of Childhood. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Neuroscience. Gene Ontology (GO) annotations related to this gene include amino acid binding and glutamate binding. An important paralog of this gene is SLC1A6.
UniProtKB/Swiss-Prot Summary 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).
-
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.
Additional gene information for SLC1A3 Gene
- HGNC(10941)
- Entrez Gene(6507)
- Ensembl(ENSG00000079215)
- OMIM(600111)
- UniProtKB(P43003)
- Open Targets Platform(ENSG00000079215)
- Monarch Initiative
- Search for SLC1A3 at DataMed
- Search for SLC1A3 at HumanCyc
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC1A3 Gene
Genomics for SLC1A3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SLC1A3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SLC1A3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC1A3
- Top Transcription factor binding sites by QIAGEN in the SLC1A3 gene promoter:
-
- AP-1
- ATF-2
- c-Jun
- Evi-1
- Ik-1
- SRY
- USF-1
- USF1
- ZIC2
Genomic Locations for SLC1A3 Gene
Genomic Locations for SLC1A3 Gene
- chr5:36,606,355-36,688,334
- (GRCh38/hg38)
- Size:
- 81,980 bases
- Orientation:
- Plus strand
- chr5:36,606,457-36,688,436
- (GRCh37/hg19)
- 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:
-
- 5p13.2 by HGNC
- 5p13.2 by Entrez Gene
- 5p13.2 by Ensembl
SLC1A3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- B2R5T3
- Q4JCQ8
Protein attributes for SLC1A3 Gene
- Size:
- 542 amino acids
- Molecular mass:
- 59572 Da
- Quaternary structure:
-
- Homotrimer.
- Miscellaneous:
-
- [Isoform 2]: Expressed throughout the CNS, both in gray matter and axonal tracts, at levels ranging between 10% and 20% of isoform 1. Localizes to ER, has no functional glutamate uptake activity, and exerts a dominant negative effect isoform 1.
Three dimensional structures from OCA and Proteopedia for SLC1A3 Gene
Protein Expression for SLC1A3 Gene
Post-translational modifications for SLC1A3 Gene
- Glycosylated.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for SLC1A3 Gene
Antibody Products
- LifeSpan BioSciences SLC1A3 / EAAT1 Antibody (LS-A9445) and SLC1A3 / EAAT1 Antibody (LS-A9447)
- G Biosciences Immunotag™ EAAT1 Antibody
-
Custom Antibody ServicesOriGene Antibodies for SLC1A3
- Novus Biologicals Antibodies for SLC1A3
-
Abcam antibodies for SLC1A3
- Invitrogen Antibodies for SLC1A3 (AFLGC-SLC1A3)
- antibodies-online: Show 35 available SLC1A3 Antibodies ranked by validation data
- Compare Top SLC1A3 Antibodies
-
Recommended
- 56 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 4 IP Antibodies (anti-rat)
- 3 FACS Antibodies (anti-rat)
- 2 IHC (p) Antibodies (anti-rat)
- 93 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 10 IHC (p) Antibodies (anti-human)
- 4 IP Antibodies (anti-human)
- 3 FACS Antibodies (anti-human)
- 2 IHC Antibodies (anti-human)
- 43 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 4 IP Antibodies (anti-mouse)
- 3 FACS Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
-
Biorbyt antibodies for SLC1A3
-
Santa Cruz Biotechnology (SCBT) Antibodies for SLC1A3
- Sino Biological Antibodies for SLC1A3
Protein Products
-
OriGene Purified Proteins for SLC1A3
- Search Origene for MassSpec and Protein Over-expression Lysates for SLC1A3
- Origene Custom Protein Services for SLC1A3
-
Signalway Proteins for SLC1A3
-
Abcam proteins for SLC1A3
Assay Products
- G Biosciences Immunotag™ Excitatory amino acid transporter 1 ELISA Kit
-
Signalway ELISA kits 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
- InterPro:
- Blocks:
-
- Sodium:dicarboxylate symporter
- ProtoNet:
Suggested Antigen Peptide Sequences for SLC1A3 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ58395, highly similar to Excitatory amino acid transporter 1 (B4DF14_HUMAN)
- Solute carrier family 1 member 3 (EAA1_HUMAN)
- Solute carrier family 1 (Glial high affinity glutamate transporter), member 3 (Q8N169_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P43003UniProtKB/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.
Function for SLC1A3 Gene
Molecular function for SLC1A3 Gene
- 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).
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=525 uM for L-glutamate {ECO:0000269|PubMed:26690923};
- 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
Phenotypes From GWAS Catalog 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 | 8123008 |
| GO:0015172 | acidic amino acid transmembrane transporter activity | IEA | -- |
| GO:0015293 | symporter activity | IEA | -- |
| GO:0015501 | glutamate:sodium symporter activity | IMP | 8123008 |
Phenotypes for SLC1A3 Gene
- MGI mutant phenotypes for SLC1A3:
- inferred from 6 alleles
- GenomeRNAi human phenotypes for SLC1A3:
-
- Increased vaccinia virus (VACV) infection
- Large nuclei
- no effect
- Decreased viability
- Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization
- Decreased viability after sindbis virus (SIN) dsTE12Q infection
- Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation
- shRNA abundance <= 50%
- Decreased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Decreased viability ratio
- Increased gamma-H2AX phosphorylation
- shRNA abundance <= 25%
- Decreased viability in glioblastoma multiforme (GBM) lineage
- Decreased influenza A virus infection
- Inconclusive
- Low eccentricity cells
Animal Models for SLC1A3 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for SLC1A3
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SLC1A3 - Select products 50% OFF >
- * SLC1A3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SLC1A3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC1A3
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC1A3
miRNA for SLC1A3 Gene
- miRTarBase miRNAs that target SLC1A3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC1A3
- Browse OriGene Inhibitory RNA Products For SLC1A3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC1A3
Clone Products
- Applied Biological Materials (abm): Clones for SLC1A3 - Select products 50% OFF >
- * SLC1A3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG208665
- MR208665
- MR208665L3
- MR208665L4
- RC207205
- RC207205L3
- RC207205L4
- RC229494
- RC229494L3
- RC229494L4
- RC230179
- RC230179L1
- RC230179L2
- RC230179L3
- RC230179L4
- RC238184
- RC238567
- RG207205
- RG229494
- RG230179
- RR203125
- RR203125L3
- RR203125L4
- RR216654
- RR216790
- RR216794
- MR208665L3V
- MR208665L4V
- RC207205L3V
- RC207205L4V
- RC229494L3V
- RC229494L4V
- RC230179L1V
- RC230179L2V
- RC230179L3V
- RC230179L4V
- RR203125L3V
- RR203125L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SLC1A3
- Addgene plasmids for SLC1A3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC1A3
Cell Line Products
-
Horizon Cell Lines for SLC1A3
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 3 |
| cytoskeleton | 3 |
| mitochondrion | 3 |
| nucleus | 3 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Mitochondria (2)
- Nucleoli (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | ISS | -- |
| GO:0009925 | basal plasma membrane | ISS | -- |
| GO:0009986 | cell surface | IEA | -- |
| GO:0016020 | membrane | IEA,TAS | 7521911 |
Pathways & Interactions for SLC1A3 Gene
Pathways by source for SLC1A3 Gene
2 BioSystems pathways for SLC1A3 Gene
9 Reactome pathways for SLC1A3 Gene
3 KEGG pathways for SLC1A3 Gene
2 R&D Systems pathways for SLC1A3 Gene
1 Qiagen pathway for SLC1A3 Gene
- Pathogenesis of ALS
1 Cell Signaling Technology pathway for SLC1A3 Gene
Interacting Proteins for SLC1A3 Gene
Selected Interacting proteins:
P43003-EAA1_HUMAN
ENSP00000265113
for SLC1A3 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for SLC1A3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001504 | neurotransmitter uptake | TAS | 8647279 |
| GO:0006811 | ion transport | TAS | -- |
| GO:0006865 | amino acid transport | IEA | -- |
| GO:0007268 | chemical synaptic transmission | TAS | 7521911 |
| GO:0007605 | sensory perception of sound | IEA | -- |
No data available for SIGNOR curated interactions for SLC1A3 Gene
Drugs & Compounds for SLC1A3 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Glutamic acid | Approved | Nutra | Agonist, Full agonist, Target | 304 | ||
| Fingolimod | Approved, Investigational | Pharma | Transporter, inducer | 0 | ||
| DL-TBOA | Pharma | Inhibitor, Inhibition | inhibitor of excitatory amino acid transporters | 0 | ||
| 7-Chlorokynurenic acid | Pharma | Potent competitive inhibitor of L-glutamate uptake | 0 | |||
| 7-Chlorokynurenic acid sodium salt | Pharma | Potent competitive inhibitor of L-glutamate uptake. Sodium salt of 7-Chlorokynurenic acid (Cat. No. 0237) | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| sodium |
|
7440-23-5 | ||||
| [<sup>3</sup>H]ETB-TBOA |
|
|
|
|||
| Chicago Sky Blue 6B |
|
2610-05-1 |
|
|
(4) Tocris Compounds for SLC1A3 Gene
| Compound | Action | Cas Number |
|---|---|---|
| 7-Chlorokynurenic acid | Potent competitive inhibitor of L-glutamate uptake | 18000-24-3 |
| 7-Chlorokynurenic acid sodium salt | Potent competitive inhibitor of L-glutamate uptake. Sodium salt of 7-Chlorokynurenic acid (Cat. No. 0237) | 1263094-00-3 |
| Chicago Sky Blue 6B | Potent inhibitor of L-glutamate uptake into synaptic vesicles; also inhibits MIF | 2610-05-1 |
| Evans Blue tetrasodium salt | Potent inhibitor of L-glutamate uptake into synaptic vesicles | 314-13-6 |
(16) 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 | |
| WAY 213613 | 868359-05-1 |
Transcripts for SLC1A3 Gene
mRNA/cDNA for SLC1A3 Gene
- 5 REFSEQ mRNAs :
- 15 NCBI additional mRNA sequence :
- 16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000265113 3919 nts (view in UCSC)
- ENST00000381918 3652 nts (view in UCSC)
- ENST00000416645 558 nts (view in UCSC)
- ENST00000502864 414 nts (view in UCSC)
- ENST00000504121 583 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SLC1A3 - Select products 50% OFF >
- * SLC1A3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SLC1A3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC1A3
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC1A3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC1A3
- Browse OriGene Inhibitory RNA Products For SLC1A3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC1A3
Clone Products
- Applied Biological Materials (abm): Clones for SLC1A3 - Select products 50% OFF >
- * SLC1A3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG208665
- MR208665
- MR208665L3
- MR208665L4
- RC207205
- RC207205L3
- RC207205L4
- RC229494
- RC229494L3
- RC229494L4
- RC230179
- RC230179L1
- RC230179L2
- RC230179L3
- RC230179L4
- RC238184
- RC238567
- RG207205
- RG229494
- RG230179
- RR203125
- RR203125L3
- RR203125L4
- RR216654
- RR216790
- RR216794
- MR208665L3V
- MR208665L4V
- RC207205L3V
- RC207205L4V
- RC229494L3V
- RC229494L4V
- RC230179L1V
- RC230179L2V
- RC230179L3V
- RC230179L4V
- RR203125L3V
- RR203125L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SLC1A3
- Addgene plasmids for SLC1A3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC1A3
| 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
Expression for SLC1A3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Bergmann Glia Purkinje Cell Layer
- Adult Neural Stem Cells Cortical Sub Ventricular Zone
- Mature Endothelial Cells Blood Brain Barrier
- Adult Endothelial Cells Blood Brain Barrier
- Neocortical Radial Glia Cells Cortical Sub Ventricular Zone
-
Neural Tube (Nervous System)
- Astrocyte Precursor Cells pV2 Neural Domain
- Astrocyte Precursor Cells dP5 Neural Domain
- Astrocyte Precursor Cells Cortical Sub Ventricular Zone
- Adult Neural Stem Cells Cortical Sub Ventricular Zone
- Astrocyte Precursor Cells pV3 Neural Domain
-
Eye (Sensory Organs)
- Glycinergic Amacrine Cells Inner Nuclear Layer
- nGnG Amacrine Cells Inner Nuclear Layer
- Mature Muller Glia Cells Inner Nuclear Layer
- Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
-
Glial Cells
- Bergmann Glia Purkinje Cell Layer
- Mature Muller Glia Cells Inner Nuclear Layer
- Protoplasmic Astrocyte Cells Neocortex
- Anterior astrospheres(Krencik R et. al. 2011)
-
Neurons
- Glycinergic Amacrine Cells Inner Nuclear Layer
- nGnG Amacrine Cells Inner Nuclear Layer
-
Epithelial Cells
- Outer Root Sheath Cells Outer Root Sheath
- Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
-
Endothelium (Cardiovascular System)
- Mature Endothelial Cells Blood Brain Barrier
- Adult Endothelial Cells Blood Brain Barrier
- Bone (Muscoskeletal System)
- Inner Cell Mass (Early Embryonic Tissues)
-
Hair (Integumentary System)
- Outer Root Sheath Cells Outer Root Sheath
-
Kidney (Urinary System)
- Ureteric Bud Cells Ureteric Bud
-
Trophoblast (Extraembryonic Tissues)
- Mural Trophectoderm Cells Mural Trophectoderm
- Astrocytes (Nervous System)
- Placenta (Extraembryonic Tissues)
- Epiblast (Early Embryonic Tissues)
- NULL (Uncategorized)
-
Spinal Cord (Nervous System)
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).
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, MaxQB, and MOPED for SLC1A3 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC1A3
SOURCE GeneReport for Unigene cluster for SLC1A3 Gene:
Hs.481918mRNA 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(3.6)
- Heart(2.6)
- Skin(2.5)
- Muscle(2.5)
- Adrenal gland(2.2)
- Blood(2.2)
- Intestine(2.1)
- Kidney(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC1A3 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
Regions:
Head and neck:
- brain
- cranial nerve
- eye
- head
- neck
Limb:
- lower limb
- upper limb
General:
- peripheral nerve
- peripheral nervous system
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for SLC1A3
-
OriGene qPCR primer pairs and template standards for SLC1A3
Gene Expression Assay Products
Orthologs for SLC1A3 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SLC1A3 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | GLAST 31 |
|
OneToOne | |
| SLC1A3 30 |
|
||||
| Oppossum (Monodelphis domestica) |
Mammalia | SLC1A3 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SLC1A3 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC1A3 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Slc1a3 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Slc1a3 30 |
|
||
| Chicken (Gallus gallus) |
Aves | SLC1A3 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SLC1A3 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slc1a3 30 |
|
||
| Str.15311 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68789 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | slc1a3b 31 |
|
OneToMany | |
| slc1a3a 30 31 |
|
OneToMany | |||
| Dr.28289 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Eaat1 32 |
|
|
|
| Eaat2 32 |
|
|
|||
| Worm (Caenorhabditis elegans) |
Secernentea | glt-5 30 |
|
||
| glt-2 32 |
|
|
|||
| Y53C12A.2 32 |
|
|
|||
| T22E5.2 32 |
|
|
|||
| K08F4.4 32 |
|
|
|||
| R05G6.6 32 |
|
|
|||
| W03G1.1 32 |
|
|
- Species where no ortholog for SLC1A3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for SLC1A3: view image
Paralogs for SLC1A3 Gene
Variants for SLC1A3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC1A3 Gene
| SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 709741 | Benign: not provided | 36,671,051(+) | G/A | SYNONYMOUS_VARIANT | |
| 711203 | Benign: not provided | 36,676,972(+) | T/C | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
| 725582 | Likely Benign: not provided | 36,679,663(+) | G/A | SYNONYMOUS_VARIANT | |
| 731491 | Likely Benign: not provided | 36,686,074(+) | C/G | SYNONYMOUS_VARIANT | |
| 738193 | Likely Benign: not provided | 36,677,125(+) | G/A | SYNONYMOUS_VARIANT,INTRON_VARIANT |
| 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 |
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)
Additional Variant Information for SLC1A3 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC1A3 Gene
Disorders for SLC1A3 Gene
(37) MalaCards diseases for SLC1A3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| episodic ataxia, type 6 |
|
|
| alternating hemiplegia of childhood |
|
|
| episodic ataxia |
|
|
| hemiplegia |
|
|
| wernicke encephalopathy |
|
|
Search SLC1A3 in MalaCards
View complete list of genes associated with diseases
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.
Additional Disease Information for SLC1A3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for SLC1A3 Gene
Publications for SLC1A3 Gene
- 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 23
- 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 23 41
- 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 23
- Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. (PMID: 16116111) Jen JC … Baloh RW (Neurology 2005) 3 4 23
- 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 23
ExternalLinks
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- Find your next knockout model in the Taconic Knockout Repository
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- Humanized Mice
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- antibodies-online: Show 35 available SLC1A3 Antibodies ranked by validation data
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- 56 WB Antibodies (anti-rat)
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- 93 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
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- 4 IP Antibodies (anti-human)
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- 43 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
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- Biorbyt antibodies for SLC1A3
Sources for SLC1A3 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
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- (104) diseasecard
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- (152) DiseaseEnhancer
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- (155) Biocompare
- (156) Mastermind
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- (159) GeneImprint
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- (162) GtRNAdb
- (163) LncBase
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- (178) MirGeneDB