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Aliases for SLC1A6 Gene

Aliases for SLC1A6 Gene

  • Solute Carrier Family 1 Member 6 2 3 4 5
  • Solute Carrier Family 1 (High Affinity Aspartate/Glutamate Transporter), Member 6 2 3
  • Sodium-Dependent Glutamate/Aspartate Transporter 3 4
  • EAAT4 3 4
  • Excitatory Amino Acid Transporter 4 3

External Ids for SLC1A6 Gene

Previous GeneCards Identifiers for SLC1A6 Gene

  • GC19M015440
  • GC19M014906
  • GC19M015060
  • GC19M014628

Summaries for SLC1A6 Gene

GeneCards Summary for SLC1A6 Gene

SLC1A6 (Solute Carrier Family 1 Member 6) is a Protein Coding gene. Diseases associated with SLC1A6 include Dicarboxylic Aminoaciduria. 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 L-aspartate transmembrane transporter activity. An important paralog of this gene is SLC1A3.

UniProtKB/Swiss-Prot for SLC1A6 Gene

  • Transports L-glutamate and also L- and D-aspartate. Seems to act as a symport by cotransporting sodium.

Tocris Summary for SLC1A6 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 SLC1A6 Gene

No data available for Entrez Gene Summary , CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC1A6 Gene

Genomics for SLC1A6 Gene

Regulatory Elements for SLC1A6 Gene

Enhancers for SLC1A6 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
GH19G014550 1.9 FANTOM5 Ensembl ENCODE dbSUPER 7.5 +470.4 470391 5.2 HDGF PKNOX1 ATF1 FOXA2 CREB3L1 ARID4B SIN3A ZNF2 ZNF48 YY1 LOC284454 SLC1A6 OR7C2 NDUFB7 DNAJB1
GH19G015135 0.8 ENCODE 10.3 -113.1 -113105 1.9 NFIB JUN ZFP64 BMI1 RAD21 CTBP1 ZNF766 GATA3 POLR2A FOSL2 SYDE1 EPHX3 SLC1A6 CCDC105 OR7A10 OR7C1 ILVBL OR10B1P
GH19G015137 0.7 ENCODE 10.3 -115.4 -115403 2.2 CTCF BHLHE40 MAX NR2F2 GATA3 JUND ZFHX2 HNF4G ZBTB33 HNF4A SYDE1 EPHX3 SLC1A6 CCDC105 OR7A10 OR7C1 ILVBL OR10B1P
GH19G014979 0.6 ENCODE 8.9 +43.1 43087 0.2 CTCF MAZ MXI1 RBBP5 ZNF398 ZFHX2 ZBTB48 KDM1A ZBTB26 EGR2 SLC1A6 CCDC105 OR7C2
GH19G014546 1 ENCODE dbSUPER 5.1 +477.2 477199 2.3 HLF MAX ZBTB8A ZIC2 ATF2 ZNF623 YY1 ZNF121 ZNF316 HNF4A NDUFB7 GIPC1 TECR SLC1A6 DNAJB1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC1A6 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC1A6 Gene

Chromosome:
19
Start:
14,950,033 bp from pter
End:
15,022,990 bp from pter
Size:
72,958 bases
Orientation:
Minus strand

Genomic View for SLC1A6 Gene

Genes around SLC1A6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC1A6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC1A6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC1A6 Gene

Proteins for SLC1A6 Gene

  • Protein details for SLC1A6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48664-EAA4_HUMAN
    Recommended name:
    Excitatory amino acid transporter 4
    Protein Accession:
    P48664
    Secondary Accessions:
    • Q8N753

    Protein attributes for SLC1A6 Gene

    Size:
    564 amino acids
    Molecular mass:
    61565 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC1A6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC1A6 Gene

Post-translational modifications for SLC1A6 Gene

  • Glycosylation at Asn216, isoforms=2232, and isoforms=2239
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC1A6 Gene

Domains & Families for SLC1A6 Gene

Gene Families for SLC1A6 Gene

Protein Domains for SLC1A6 Gene

Suggested Antigen Peptide Sequences for SLC1A6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P48664

UniProtKB/Swiss-Prot:

EAA4_HUMAN :
  • Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A6 subfamily.
Family:
  • Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A6 subfamily.
genes like me logo Genes that share domains with SLC1A6: view

Function for SLC1A6 Gene

Molecular function for SLC1A6 Gene

GENATLAS Biochemistry:
solute carrier family 1,member 6 (high affinity aspartate/glutamate transport)
UniProtKB/Swiss-Prot Function:
Transports L-glutamate and also L- and D-aspartate. Seems to act as a symport by cotransporting sodium.

Gene Ontology (GO) - Molecular Function for SLC1A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005313 L-glutamate transmembrane transporter activity IEA --
GO:0005314 high-affinity glutamate transmembrane transporter activity TAS --
GO:0015171 amino acid transmembrane transporter activity TAS --
GO:0015183 L-aspartate transmembrane transporter activity TAS 7791878
GO:0015293 symporter activity IEA --
genes like me logo Genes that share ontologies with SLC1A6: view
genes like me logo Genes that share phenotypes with SLC1A6: view

Animal Models for SLC1A6 Gene

MGI Knock Outs for SLC1A6:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC1A6

CRISPR Products

miRNA for SLC1A6 Gene

miRTarBase miRNAs that target SLC1A6

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC1A6 Gene

Localization for SLC1A6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC1A6 Gene

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 SLC1A6 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
extracellular 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for SLC1A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 7791878
GO:0016020 membrane TAS,IEA 7791878
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC1A6: view

Pathways & Interactions for SLC1A6 Gene

genes like me logo Genes that share pathways with SLC1A6: view

Interacting Proteins for SLC1A6 Gene

Gene Ontology (GO) - Biological Process for SLC1A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport TAS --
GO:0007268 chemical synaptic transmission TAS 7791878
GO:0014047 glutamate secretion TAS --
GO:0015810 aspartate transport TAS 7791878
genes like me logo Genes that share ontologies with SLC1A6: view

No data available for SIGNOR curated interactions for SLC1A6 Gene

Drugs & Compounds for SLC1A6 Gene

(9) Drugs for SLC1A6 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
DL-TBOA Pharma Inhibition, Inhibitor inhibitor of excitatory amino acid transporters, Selective non-transportable inhibitor of EAATs 0
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
threo-3-methylglutamate Pharma Inhibition, Inhibitor 0

(5) Additional Compounds for SLC1A6 Gene - From: IUPHAR, Novoseek, and HMDB

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

(5) Tocris Compounds for SLC1A6 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
genes like me logo Genes that share compounds with SLC1A6: view

Transcripts for SLC1A6 Gene

Unigene Clusters for SLC1A6 Gene

Solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC1A6 Gene

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

Relevant External Links for SLC1A6 Gene

GeneLoc Exon Structure for
SLC1A6
ECgene alternative splicing isoforms for
SLC1A6

Expression for SLC1A6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC1A6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC1A6 Gene

This gene is overexpressed in Brain - Cerebellum (x16.6), Brain - Cerebellar Hemisphere (x8.0), and Testis (x4.4).

Protein differential expression in normal tissues from HIPED for SLC1A6 Gene

This gene is overexpressed in Brain (48.0), Lung (12.4), and Fetal Brain (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC1A6 Gene



Protein tissue co-expression partners for SLC1A6 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC1A6 Gene:

SLC1A6

SOURCE GeneReport for Unigene cluster for SLC1A6 Gene:

Hs.515217

mRNA Expression by UniProt/SwissProt for SLC1A6 Gene:

P48664-EAA4_HUMAN
Tissue specificity: Brain. Expressed densely and selectively in cell bodies of Purkinje cells.

Evidence on tissue expression from TISSUES for SLC1A6 Gene

  • Nervous system(4.6)
  • Eye(2)
genes like me logo Genes that share expression patterns with SLC1A6: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC1A6 Gene

Orthologs for SLC1A6 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC1A6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC1A6 35
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC1A6 34 35
  • 90.84 (n)
cow
(Bos Taurus)
Mammalia SLC1A6 34 35
  • 90.72 (n)
mouse
(Mus musculus)
Mammalia Slc1a6 34 16 35
  • 88 (n)
rat
(Rattus norvegicus)
Mammalia Slc1a6 34
  • 87.34 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC1A6 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 71 (a)
ManyToMany
-- 35
  • 65 (a)
ManyToMany
chicken
(Gallus gallus)
Aves SLC1A6 34 35
  • 73.72 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494506 34
  • 66.67 (n)
zebrafish
(Danio rerio)
Actinopterygii slc1a6 34 35
  • 65.51 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009443 34
  • 56.63 (n)
fruit fly
(Drosophila melanogaster)
Insecta Eaat1 36 34
  • 54.5 (n)
Eaat2 36
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea glt-2 36
  • 49 (a)
T22E5.2 36
  • 46 (a)
Y53C12A.2 36
  • 45 (a)
K08F4.4 36
  • 44 (a)
R05G6.6 36
  • 39 (a)
W03G1.1 36
  • 35 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7013 34
Species where no ortholog for SLC1A6 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)
  • lizard (Anolis carolinensis)
  • 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 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 SLC1A6 Gene

ENSEMBL:
Gene Tree for SLC1A6 (if available)
TreeFam:
Gene Tree for SLC1A6 (if available)

Paralogs for SLC1A6 Gene

Paralogs for SLC1A6 Gene

genes like me logo Genes that share paralogs with SLC1A6: view

Variants for SLC1A6 Gene

Sequence variations from dbSNP and Humsavar for SLC1A6 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000026166 -- 14,982,734(+) AACTG(C/T)GTCTT intron-variant
rs1000054697 -- 14,973,470(+) GGGGA(C/G)GGGGA intron-variant, upstream-variant-2KB
rs1000162155 -- 14,995,967(+) TAAAG(-/A)TTTTT intron-variant
rs1000168165 -- 14,996,374(+) AATGG(C/T)TGCAC intron-variant
rs1000213373 -- 14,996,334(+) GATGG(A/G)CACTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC1A6 Gene

Variant ID Type Subtype PubMed ID
esv2758746 CNV gain 17122850
esv3556079 CNV deletion 23714750
esv3893167 CNV gain 25118596
nsv1063744 CNV gain 25217958
nsv1123225 CNV deletion 24896259
nsv1131403 CNV deletion 24896259
nsv138379 CNV insertion 16902084
nsv2424 CNV deletion 18451855
nsv510756 CNV deletion 20534489
nsv527295 CNV loss 19592680
nsv578716 CNV loss 21841781

Variation tolerance for SLC1A6 Gene

Residual Variation Intolerance Score: 36.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.14; 23.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC1A6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC1A6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC1A6 Gene

Disorders for SLC1A6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC1A6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
dicarboxylic aminoaciduria
  • glutamate-aspartate transport defect
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC1A6

Genetic Association Database (GAD)
SLC1A6
Human Genome Epidemiology (HuGE) Navigator
SLC1A6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC1A6
genes like me logo Genes that share disorders with SLC1A6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC1A6 Gene

Publications for SLC1A6 Gene

  1. Association study of polymorphisms in the glutamate transporter genes SLC1A1, SLC1A3, and SLC1A6 with schizophrenia. (PMID: 17221839) Deng X. … Fukumaki Y. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2007) 3 22 46 64
  2. An excitatory amino-acid transporter with properties of a ligand- gated chloride channel. (PMID: 7791878) Fairman W.A. … Amara S.G. (Nature 1995) 2 3 4 64
  3. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PMID: 20424473) Yokoyama K. … Hosoya T. (Nephron Clin Pract 2010) 3 46 64
  4. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PMID: 19086053) GratacA^s M. … Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009) 3 46 64
  5. Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis. (PMID: 19156168) Need A.C. … Goldstein D.B. (Eur. J. Hum. Genet. 2009) 3 46 64

Products for SLC1A6 Gene

Sources for SLC1A6 Gene

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