Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SLC1A1 Gene

Aliases for SLC1A1 Gene

  • Solute Carrier Family 1 Member 1 2 3 4 5
  • Solute Carrier Family 1 (Neuronal/Epithelial High Affinity Glutamate Transporter, System Xag), Member 1 2 3
  • Sodium-Dependent Glutamate/Aspartate Transporter 3 3 4
  • Neuronal And Epithelial Glutamate Transporter 3 4
  • EAAC1 3 4
  • EAAT3 3 4
  • Excitatory Amino Acid Transporter 3 3
  • 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 Collagen chain trimerization and Circadian entrainment. 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

  • Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:7914198, PubMed:7521911, PubMed:8857541, PubMed:26690923, PubMed:21123949). Can also transport L-cysteine (PubMed:21123949). 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:7521911, PubMed:8857541, PubMed:26690923). 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:8857541, PubMed:26690923). Plays an important role in L-glutamate and L-aspartate reabsorption in renal tubuli (PubMed:21123949). 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). 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

Additional gene information for SLC1A1 Gene

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

Genomics for SLC1A1 Gene

Regulatory Elements for SLC1A1 Gene

Enhancers for SLC1A1 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
GH09H004489 1.2 ENCODE dbSUPER 26.5 +1.0 968 4.1 TBL1XR1 RB1 SIN3A RAD21 YY1 GLIS2 ZNF366 SCRT2 KLF7 CREM SLC1A1 GC09P004528
GH09H004506 1.3 FANTOM5 ENCODE dbSUPER 11.8 +19.0 18993 5.7 PKNOX1 TAF1 MAX REST RAD21 YY1 FOXA1 ZNF217 CTBP1 JUND SLC1A1 GC09P004528
GH09H004495 0.9 ENCODE dbSUPER 7.5 +6.8 6820 3.1 PKNOX1 ARNT FEZF1 ZBTB40 ZNF121 PRDM6 GLIS1 MLLT1 HNF4A WT1 SLC1A1 GC09P004528
GH09H004499 0.9 ENCODE dbSUPER 5.6 +11.3 11307 3.8 FOXA2 NFIB MAX REST RAD21 FOXA1 GABPA YY1 NFIC JUND RFX3 SLC1A1 GC09P004528
GH09H004431 0.4 ENCODE 4.6 -58.2 -58217 0.7 MAFK SLC1A1 GC09P004436 GC09P004427
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC1A1 on UCSC Golden Path with GeneCards custom track

Promoters for SLC1A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000232750 273 2201 TBL1XR1 RB1 SIN3A RAD21 YY1 GLIS2 ZNF366 SCRT2 KLF7 CREM

Genomic Locations for SLC1A1 Gene

Genomic Locations for SLC1A1 Gene
chr9:4,490,427-4,587,469
(GRCh38/hg38)
Size:
97,043 bases
Orientation:
Plus strand
chr9:4,490,427-4,587,469
(GRCh37/hg19)

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:
    • Homotrimer (Probable). Interacts with ARL6IP5 (By similarity).

neXtProt entry for SLC1A1 Gene

Post-translational modifications for SLC1A1 Gene

Other Protein References for SLC1A1 Gene

No data available for DME Specific Peptides for SLC1A1 Gene

Domains & Families for SLC1A1 Gene

Gene Families for SLC1A1 Gene

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

Protein Domains for SLC1A1 Gene

Graphical View of Domain Structure for InterPro Entry

P43005

UniProtKB/Swiss-Prot:

EAA3_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. SLC1A1 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. 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 BiophysicochemicalProperties:
Kinetic parameters: KM=268 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:7914198, PubMed:7521911, PubMed:8857541, PubMed:26690923, PubMed:21123949). Can also transport L-cysteine (PubMed:21123949). 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:7521911, PubMed:8857541, PubMed:26690923). 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:8857541, PubMed:26690923). Plays an important role in L-glutamate and L-aspartate reabsorption in renal tubuli (PubMed:21123949). 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). Negatively regulated by ARL6IP5 (By similarity).

Phenotypes From GWAS Catalog for SLC1A1 Gene

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 IDA,TAS --
GO:0005515 protein binding IPI 25416956
GO:0015108 chloride transmembrane transporter activity IMP 8857541
GO:0015171 amino acid transmembrane transporter activity TAS --
genes like me logo Genes that share ontologies with SLC1A1: view
genes like me logo Genes that share phenotypes with SLC1A1: view

Animal Models for SLC1A1 Gene

MGI Knock Outs for SLC1A1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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.

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 SLC1A1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 2
cytosol 2
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SLC1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IMP,TAS 8857541
GO:0016020 membrane TAS,IEA 7521911
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IEA,IDA 21123949
genes like me logo Genes that share ontologies with SLC1A1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC1A1 Gene

Pathways & Interactions for SLC1A1 Gene

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

Pathways by source for SLC1A1 Gene

Gene Ontology (GO) - Biological Process for SLC1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport TAS --
GO:0006865 amino acid transport IEA --
GO:0007268 chemical synaptic transmission TAS 7521911
GO:0010460 positive regulation of heart rate 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutamic Acid Approved Nutra Full agonist, Agonist, Target 236
L-Aspartic acid Approved Nutra Target 0
Pregabalin Approved, Illicit, Investigational Pharma Transporter, Other GABA analog/VDCC ligand;anticonvulsant/anxiolytic analgesic 375
DL-TBOA Pharma Inhibition, Inhibitor inhibitor of excitatory amino acid transporters 0
[<sup>3</sup>H]D-aspartic acid Pharma 0

(12) Additional Compounds for SLC1A1 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
L-beta-BA
Inhibition, Inhibitor

(4) Tocris Compounds for SLC1A1 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

(17) ApexBio Compounds for SLC1A1 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 SLC1A1: view

Drug Products

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

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SLC1A1 Gene



Protein tissue co-expression partners for SLC1A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC1A1 Gene:

SLC1A1

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).

Evidence on tissue expression from TISSUES for SLC1A1 Gene

  • Nervous system(4.7)
  • Kidney(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC1A1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • integumentary
  • nervous
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
Abdomen:
  • adrenal gland
  • kidney
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with SLC1A1: view

Orthologs for SLC1A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC1A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC1A1 33 34
  • 99.36 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC1A1 34
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC1A1 33 34
  • 89.95 (n)
cow
(Bos Taurus)
Mammalia SLC1A1 33 34
  • 89.06 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC1A1 34
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc1a1 33
  • 86.42 (n)
mouse
(Mus musculus)
Mammalia Slc1a1 33 16 34
  • 85.79 (n)
chicken
(Gallus gallus)
Aves SLC1A1 33 34
  • 77.61 (n)
lizard
(Anolis carolinensis)
Reptilia SLC1A1 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc1a1 33
  • 76.4 (n)
zebrafish
(Danio rerio)
Actinopterygii slc1a1 33 34
  • 69.03 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9753 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006718 33
  • 56.77 (n)
fruit fly
(Drosophila melanogaster)
Insecta Eaat1 35
  • 45 (a)
Eaat2 35
  • 44 (a)
worm
(Caenorhabditis elegans)
Secernentea glt-2 35
  • 52 (a)
T22E5.2 35
  • 47 (a)
Y53C12A.2 35
  • 47 (a)
K08F4.4 35
  • 44 (a)
R05G6.6 35
  • 43 (a)
W03G1.1 35
  • 35 (a)
Species where no ortholog for SLC1A1 was found in the sources mined by GeneCards:
  • 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
rs587777696 Pathogenic, Dicarboxylic aminoaciduria (DCBXA) [MIM:222730] 4,585,316(+) GGGAC(C/T)GGTTC intron-variant, reference, missense
rs587777697 Pathogenic 4,576,754(+) GATCA(-/TCA)CCATC intron-variant, cds-indel
rs755579388 Likely pathogenic 4,583,108(+) TGATT(A/G)TGCTG intron-variant, reference, missense
rs1051825 Likely benign 4,586,919(+) TCTGC(C/T)AATTT intron-variant, utr-variant-3-prime
rs1051835 Likely benign 4,587,161(+) ACTGA(A/G)TTGTT intron-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv8407 CNV loss 18304495
nsv824822 CNV loss 20364138
nsv819362 CNV loss 19587683
nsv818674 CNV loss 17921354
nsv818673 CNV loss 17921354
nsv613170 CNV loss 21841781
nsv528488 CNV loss 19592680
nsv524574 CNV gain 19592680
nsv517270 CNV loss 19592680
nsv515747 CNV loss 19592680
nsv474517 CNV novel sequence insertion 20440878
nsv473710 CNV novel sequence insertion 20440878
nsv466095 CNV loss 19166990
nsv442536 CNV loss 18776908
nsv1161827 CNV duplication 26073780
nsv1161822 CNV deletion 26073780
nsv1161821 CNV deletion 26073780
nsv1147404 CNV deletion 26484159
nsv1074811 CNV deletion 25765185
nsv1022870 CNV loss 25217958
nsv1022493 CNV loss 25217958
nsv1016929 CNV gain 25217958
esv3891533 CNV loss 25118596
esv3891532 CNV gain 25118596
esv3619352 CNV loss 21293372
esv3619350 CNV loss 21293372
esv3619349 CNV loss 21293372
esv3619348 CNV loss 21293372
esv3619347 CNV loss 21293372
esv3619346 CNV loss 21293372
esv3573088 CNV loss 25503493
esv3573087 CNV loss 25503493
esv3544457 CNV deletion 23714750
esv2764162 CNV loss 21179565
esv2759659 CNV loss 17122850
esv2738154 CNV deletion 23290073
esv2678426 CNV deletion 23128226
esv2656609 CNV deletion 23128226
esv2422074 CNV deletion 20811451
esv22769 CNV loss 19812545
esv2051616 CNV deletion 18987734
dgv3947n106 CNV deletion 24896259
dgv272n111 CNV deletion 26073780

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

Human Gene Mutation Database (HGMD)
SLC1A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC1A1

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

Disorders for SLC1A1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
dicarboxylic aminoaciduria
  • glutamate-aspartate transport defect
schizophrenia susceptibility 18
  • schizophrenia 18
hot water reflex epilepsy
aminoaciduria
schizoaffective disorder
- 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 DE … Hanna GL (Archives of general psychiatry 2006) 3 22 45 60
  2. Genomic organization of the SLC1A1/EAAC1 gene and mutation screening in early-onset obsessive-compulsive disorder. (PMID: 11317217) Veenstra-VanderWeele J … Cook EH (Molecular psychiatry 2001) 3 4 22 60
  3. 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) 3 4 22 60
  4. Caveolin-1 Sensitivity of Excitatory Amino Acid Transporters EAAT1, EAAT2, EAAT3, and EAAT4. (PMID: 26690923) Abousaab A … Lang F (The Journal of membrane biology 2016) 3 4 60
  5. Deletion at the SLC1A1 glutamate transporter gene co-segregates with schizophrenia and bipolar schizoaffective disorder in a 5-generation family. (PMID: 23341099) Myles-Worsley M … Middleton FA (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2013) 3 4 60

Products for SLC1A1 Gene

Sources for SLC1A1 Gene

Content
Loading form....