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Aliases for SLC1A1 Gene

Aliases for SLC1A1 Gene

  • Solute Carrier Family 1 Member 1 2 3 4
  • Solute Carrier Family 1 (Neuronal/Epithelial High Affinity Glutamate Transporter, System Xag), Member 1 2 3 5
  • Sodium-Dependent Glutamate/Aspartate Transporter 3 3 4
  • Neuronal And Epithelial Glutamate Transporter 3 4
  • EAAC1 3 4
  • EAAT3 3 4
  • Excitatory Amino Acid Carrier 1 3
  • Excitatory Amino-Acid Carrier 1 4
  • SCZD18 3
  • DCBXA 3

External Ids for SLC1A1 Gene

Previous GeneCards Identifiers for SLC1A1 Gene

  • GC09P004644
  • GC09P004471
  • GC09P004480

Summaries for SLC1A1 Gene

Entrez Gene Summary for SLC1A1 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 glutamate, and in maintaining extracellular glutamate concentrations below neurotoxic levels. This transporter also transports aspartate, and mutations in this gene are thought to cause dicarboxylicamino aciduria, also known as glutamate-aspartate transport defect. [provided by RefSeq, Mar 2010]

GeneCards Summary for SLC1A1 Gene

SLC1A1 (Solute Carrier Family 1 Member 1) is a Protein Coding gene. Diseases associated with SLC1A1 include dicarboxylic aminoaciduria and schizophrenia susceptibility 18. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Neurotransmitter Release Cycle. GO annotations related to this gene include L-glutamate transmembrane transporter activity and sodium:dicarboxylate symporter activity. An important paralog of this gene is SLC1A3.

UniProtKB/Swiss-Prot for SLC1A1 Gene

  • Transports L-glutamate, L- and D-aspartate and L-cystein (PubMed:21123949). Essential for terminating the postsynaptic action of glutamate by rapidly removing released glutamate from the synaptic cleft. Acts as a symport by cotransporting sodium. Negatively regulated by ARL6IP5 (By similarity).

Tocris Summary for SLC1A1 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 SLC1A1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC1A1 Gene

Genomics for SLC1A1 Gene

Regulatory Elements for SLC1A1 Gene

Promoters for SLC1A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC1A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC1A1 Gene

Chromosome:
9
Start:
4,490,427 bp from pter
End:
4,587,469 bp from pter
Size:
97,043 bases
Orientation:
Plus strand

Genomic View for SLC1A1 Gene

Genes around SLC1A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC1A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC1A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC1A1 Gene

Proteins for SLC1A1 Gene

  • Protein details for SLC1A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P43005-EAA3_HUMAN
    Recommended name:
    Excitatory amino acid transporter 3
    Protein Accession:
    P43005
    Secondary Accessions:
    • O75587
    • Q5VZ24
    • Q8N199
    • Q9UEW2

    Protein attributes for SLC1A1 Gene

    Size:
    524 amino acids
    Molecular mass:
    57100 Da
    Quaternary structure:
    • Interacts with ARL6IP5/PRAF3.

neXtProt entry for SLC1A1 Gene

Proteomics data for SLC1A1 Gene at MOPED

Post-translational modifications for SLC1A1 Gene

Other Protein References for SLC1A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SLC1A1 (SLC1A1)

No data available for DME Specific Peptides for SLC1A1 Gene

Domains & Families for SLC1A1 Gene

Gene Families for SLC1A1 Gene

Protein Domains for SLC1A1 Gene

Graphical View of Domain Structure for InterPro Entry

P43005

UniProtKB/Swiss-Prot:

EAA3_HUMAN :
  • Belongs to the sodium:dicarboxylate (SDF) symporter (TC 2.A.23) family. SLC1A1 subfamily.
Family:
  • Belongs to the sodium:dicarboxylate (SDF) symporter (TC 2.A.23) family. SLC1A1 subfamily.
genes like me logo Genes that share domains with SLC1A1: view

Function for SLC1A1 Gene

Molecular function for SLC1A1 Gene

GENATLAS Biochemistry:
solute carrier family 1,member A1,glial high affinity glutamate transporter,expressed in neurons
UniProtKB/Swiss-Prot Function:
Transports L-glutamate, L- and D-aspartate and L-cystein (PubMed:21123949). Essential for terminating the postsynaptic action of glutamate by rapidly removing released glutamate from the synaptic cleft. Acts as a symport by cotransporting sodium. Negatively regulated by ARL6IP5 (By similarity).

Gene Ontology (GO) - Molecular Function for SLC1A1 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 TAS --
GO:0015171 amino acid transmembrane transporter activity TAS --
GO:0015501 glutamate:sodium symporter activity IEA --
GO:0017153 sodium:dicarboxylate symporter activity IEA --
genes like me logo Genes that share ontologies with SLC1A1: view
genes like me logo Genes that share phenotypes with SLC1A1: view

Human Phenotype Ontology for SLC1A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC1A1 Gene

MGI Knock Outs for SLC1A1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC1A1 Gene

Localization for SLC1A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC1A1 Gene

Cell membrane; Multi-pass membrane protein. Apical cell membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC1A1 Gene COMPARTMENTS Subcellular localization image for SLC1A1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 2
nucleus 2
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SLC1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA,TAS 7521911
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with SLC1A1: view

Pathways & Interactions for SLC1A1 Gene

genes like me logo Genes that share pathways with SLC1A1: view

Gene Ontology (GO) - Biological Process for SLC1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport TAS --
GO:0006835 dicarboxylic acid transport IEA --
GO:0007268 synaptic transmission TAS 7521911
GO:0010460 positive regulation of heart rate IEA --
GO:0015813 L-glutamate transport IEA --
genes like me logo Genes that share ontologies with SLC1A1: view

No data available for SIGNOR curated interactions for SLC1A1 Gene

Drugs & Compounds for SLC1A1 Gene

(21) Drugs for SLC1A1 Gene - From: IUPHAR, DGIdb, Novoseek, DrugBank, HMDB, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Aspartic acid Approved Nutra Target NMDA agonist 0
Pregabalin Approved, Illicit, Investigational Pharma Transporter, Other 340
L-Glutamic Acid Nutra Full agonist, Agonist, Target 0
[<sup>3</sup>H]D-aspartic acid Pharma 0
[<sup>3</sup>H]L-aspartic acid Pharma 0

(18) Additional Compounds for SLC1A1 Gene - From: Novoseek, IUPHAR, Tocris, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
[<sup>3</sup>H]ETB-TBOA
L-beta-BA
Inhibition, Inhibitor
7-Chlorokynurenic acid
18000-24-3
cis-ACBD
73550-55-7

(5) Tocris Compounds for SLC1A1 Gene

Compound Action Cas Number
7-Chlorokynurenic acid Potent competitive inhibitor of L-glutamate uptake 18000-24-3
cis-ACBD Potent, selective L-glutamate uptake inhibitor 73550-55-7
Dihydrokainic acid EAAT2 (GLT-1)-selective non-transportable inhibitor of L-glutamate and L-aspartate uptake 52497-36-6
L-(-)-threo-3-Hydroxyaspartic acid Transportable EAAT1-4 inhibitor/non-transportable EAAT5 inhibitor 7298-99-9
L-trans-2,4-PDC Transportable EAAT1-4 inhibitor/non-transportable EAAT5 inhibitor 64769-66-0
genes like me logo Genes that share compounds with SLC1A1: view

Transcripts for SLC1A1 Gene

Unigene Clusters for SLC1A1 Gene

Solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC1A1 Gene

No ASD Table

Relevant External Links for SLC1A1 Gene

GeneLoc Exon Structure for
SLC1A1
ECgene alternative splicing isoforms for
SLC1A1

Expression for SLC1A1 Gene

mRNA expression in normal human tissues for SLC1A1 Gene

mRNA differential expression in normal tissues according to GTEx for SLC1A1 Gene

This gene is overexpressed in Liver (x6.1).

Protein differential expression in normal tissues from HIPED for SLC1A1 Gene

This gene is overexpressed in Urine (41.5), Liver (12.7), and Heart (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SLC1A1 Gene



SOURCE GeneReport for Unigene cluster for SLC1A1 Gene Hs.444915

mRNA Expression by UniProt/SwissProt for SLC1A1 Gene

P43005-EAA3_HUMAN
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).
genes like me logo Genes that share expression patterns with SLC1A1: view

Protein tissue co-expression partners for SLC1A1 Gene

Primer Products

In Situ Assay Products

Orthologs for SLC1A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC1A1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC1A1 35
  • 89.06 (n)
  • 90.84 (a)
SLC1A1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC1A1 35
  • 89.95 (n)
  • 93.32 (a)
SLC1A1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc1a1 35
  • 85.79 (n)
  • 90.25 (a)
Slc1a1 16
Slc1a1 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC1A1 35
  • 99.36 (n)
  • 99.05 (a)
SLC1A1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc1a1 35
  • 86.42 (n)
  • 91.2 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC1A1 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC1A1 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC1A1 35
  • 77.61 (n)
  • 84.16 (a)
SLC1A1 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC1A1 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc1a1 35
  • 76.4 (n)
  • 83.97 (a)
zebrafish
(Danio rerio)
Actinopterygii slc1a1 35
  • 69.03 (n)
  • 74.28 (a)
slc1a1 36
  • 73 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9753 35
fruit fly
(Drosophila melanogaster)
Insecta Eaat1 37
  • 45 (a)
Eaat2 37
  • 44 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006718 35
  • 56.77 (n)
  • 55.25 (a)
worm
(Caenorhabditis elegans)
Secernentea glt-2 37
  • 52 (a)
K08F4.4 37
  • 44 (a)
R05G6.6 37
  • 43 (a)
T22E5.2 37
  • 47 (a)
W03G1.1 37
  • 35 (a)
Y53C12A.2 37
  • 47 (a)
Species with no ortholog for SLC1A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 SLC1A1 Gene

ENSEMBL:
Gene Tree for SLC1A1 (if available)
TreeFam:
Gene Tree for SLC1A1 (if available)

Paralogs for SLC1A1 Gene

Paralogs for SLC1A1 Gene

(6) SIMAP similar genes for SLC1A1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SLC1A1: view

Variants for SLC1A1 Gene

Sequence variations from dbSNP and Humsavar for SLC1A1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
VAR_023308 -
rs2229885 - 4,490,760(+) GCCGC(C/G)GTGGT reference, synonymous-codon
VAR_071954 Dicarboxylic aminoaciduria (DCBXA)
rs3056 -- 4,587,146(+) CTACA(A/G)CATAA utr-variant-3-prime
rs159914 -- 4,577,130(+) CTGTA(C/T)GGTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC1A1 Gene

Variant ID Type Subtype PubMed ID
nsv524574 CNV Gain 19592680
dgv8014n71 CNV Gain 21882294
nsv892120 CNV Gain 21882294
nsv892121 CNV Gain 21882294
nsv818673 CNV Loss 17921354
esv22769 CNV Loss 19812545
esv2656609 CNV Deletion 23128226
nsv515747 CNV Loss 19592680
dgv8015n71 CNV Loss 21882294
nsv8407 CNV Loss 18304495
nsv466095 CNV Loss 19166990
nsv517270 CNV Loss 19592680
nsv818674 CNV Loss 17921354
esv2422074 CNV Deletion 20811451
esv2678426 CNV Deletion 23128226
nsv824822 CNV Loss 20364138
dgv2276e1 CNV Complex 17122850
nsv442536 CNV CNV 18776908
nsv892124 CNV Gain 21882294
esv2051616 CNV Deletion 18987734
esv2738154 CNV Deletion 23290073
nsv528488 CNV Loss 19592680
nsv819362 CNV Loss 19587683

Variation tolerance for SLC1A1 Gene

Residual Variation Intolerance Score: 10.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.92; 48.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC1A1 Gene

HapMap Linkage Disequilibrium report
SLC1A1
Human Gene Mutation Database (HGMD)
SLC1A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC1A1 Gene

Disorders for SLC1A1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for SLC1A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
dicarboxylic aminoaciduria
  • dicarboxylicaminoaciduria
schizophrenia susceptibility 18
  • schizophrenia 18
aminoaciduria
episodic ataxia, type 6
  • episodic ataxia type 6
transient cerebral ischemia
  • tia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

EAA3_HUMAN
  • Dicarboxylic aminoaciduria (DCBXA) [MIM:222730]: An autosomal recessive disorder characterized by abnormal excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular filtrate in the kidney. It can be associated with mental retardation. {ECO:0000269 PubMed:21123949}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Schizophrenia 18 (SCZD18) [MIM:615232]: A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. {ECO:0000269 PubMed:21982423, ECO:0000269 PubMed:23341099}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. A deletion at the chromosome 9p24.2 locus, including SLC1A1, has been identified in patients with psychotic disorders (PubMed:21982423). This 84 kb deletion is immediately upstream of the SLC1A1 gene in a regulatory region that contains the full native promoter sequence, extends through exon 1 of the SLC1A1 mRNA, co-segregates with disease in an extended 5-generation pedigree and increases disease risk more than 18-fold for family members (PubMed:23341099). {ECO:0000269 PubMed:21982423, ECO:0000269 PubMed:23341099}.

Relevant External Links for SLC1A1

Genetic Association Database (GAD)
SLC1A1
Human Genome Epidemiology (HuGE) Navigator
SLC1A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC1A1
genes like me logo Genes that share disorders with SLC1A1: view

No data available for Genatlas for SLC1A1 Gene

Publications for SLC1A1 Gene

  1. Association testing of the positional and functional candidate gene SLC1A1/EAAC1 in early-onset obsessive-compulsive disorder. (PMID: 16818867) Dickel D.E. … Hanna G.L. (Arch. Gen. Psychiatry 2006) 3 23 48 67
  2. Cooperation of the conserved aspartate 439 and bound amino acid substrate is important for high-affinity Na+ binding to the glutamate transporter EAAC1. (PMID: 17389249) Tao Z. … Grewer C. (J. Gen. Physiol. 2007) 23 25 26
  3. Mechanism of cation binding to the glutamate transporter EAAC1 probed with mutation of the conserved amino acid residue Thr101. (PMID: 20378543) Tao Z. … Grewer C. (J. Biol. Chem. 2010) 3 23
  4. PIP5K2A-dependent regulation of excitatory amino acid transporter EAAT3. (PMID: 19644675) Fedorenko O. … Lang U.E. (Psychopharmacology (Berl.) 2009) 3 23
  5. Reticulon RTN2B regulates trafficking and function of neuronal glutamate transporter EAAC1. (PMID: 18096700) Liu Y. … Rothstein J.D. (J. Biol. Chem. 2008) 3 23

Products for SLC1A1 Gene

Sources for SLC1A1 Gene

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