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    SLC1A6 solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 [ Homo sapiens ]

    Gene ID: 6511, updated on 11-May-2012
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    Summary

    Official Symbol
    SLC1A6provided by HGNC
    Official Full Name
    solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6provided by HGNC
    Primary source
    HGNC:10944
    See related
    Ensembl:ENSG00000105143; HPRD:09005; MIM:600637
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EAAT4; MGC33092; MGC43671
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    Genomic context

    Location :
    19p13.12
    Sequence :
    Chromosome: 19; NC_000019.9 (15060991..15083730, complement)
    See SLC1A6 in Epigenomics, MapViewer

    Chromosome 19 - NC_000019.9Genomic Context describing neighboring genes Neighboring gene olfactory receptor, family 7, subfamily A, member 15 pseudogene Neighboring gene olfactory receptor, family 7, subfamily C, member 2 Neighboring gene coiled-coil domain containing 105 Neighboring gene caspase 14, apoptosis-related cysteine peptidase

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Neuronal glutamate transporters regulate glial excitatory transmission. Tsai MC, et al. J Neurosci, 2012 Feb 1. PMID 22302796.
    2. Substrate-dependent gating of anion channels associated with excitatory amino acid transporter 4. Machtens JP, et al. J Biol Chem, 2011 Jul 8. PMID 21572047.
    3. A conserved aspartate determines pore properties of anion channels associated with excitatory amino acid transporter 4 (EAAT4). Kovermann P, et al. J Biol Chem, 2010 Jul 30. PMID 20519505.
    4. 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. Yokoyama K, et al. Nephron Clin Pract, 2010. PMID 20424473.
    5. Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis. Need AC, et al. Eur J Hum Genet, 2009 Jul. PMID 19156168.

    See all (15) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. A twofold difference in functional EAAT4 levels is sufficient to alter signaling to Bergman glia in reporter mice.
      Title: Neuronal glutamate transporters regulate glial excitatory transmission.
    2. strate-dependent gating of anion channels associated with excitatory amino acid transporter 4.
      Title: Substrate-dependent gating of anion channels associated with excitatory amino acid transporter 4.
    3. a conserved aspartate determines pore properties of anion channels associated with excitatory amino acid transporter 4 (EAAT4)
      Title: A conserved aspartate determines pore properties of anion channels associated with excitatory amino acid transporter 4 (EAAT4).
    4. Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: 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.
    6. conclusion, maximal glutamate transport modulation by SGK1 is accomplished by direct EAAT4 stimulation and to a lesser extent by inhibition of intrinsic Nedd4-2.
      Title: EAAT4 phosphorylation at the SGK1 consensus site is required for transport modulation by the kinase.
    7. At least one susceptibility locus for schizophrenia may be located within or nearby SLC1A6.
      Title: Association study of polymorphisms in the glutamate transporter genes SLC1A1, SLC1A3, and SLC1A6 with schizophrenia.
    8. Independent, rather than cooperative anion conductance gating significantly alters predictions of the influence that EAAT4-mediated anion currents will have on synaptic transmission at low glutamate concentrations.
      Title: The glutamate-activated anion conductance in excitatory amino acid transporters is gated independently by the individual subunits.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P48664 O15085 ARHGEF11    HPRD  PubMed  
    P48664 O95376 ARIH2    HPRD  PubMed  
    BioGRID:112402 BioGRID:115694 ARIH2    BioGRID  PubMed Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Glutamate Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
      Glutamate Neurotransmitter Release Cycle, organism-specific biosystemCommunication at the synapse involves the release of glutamate from the presynaptic neuron and its binding to glutamate receptors on the postsynaptic cell to generate a series of events that lead to ...
    • Glutamatergic synapse, organism-specific biosystem (from KEGG)
      Glutamatergic synapse, organism-specific biosystemGlutamate is the major excitatory neurotransmitter in the mammalian central nervous system(CNS). Glutamate is packaged into synaptic vesicles in the presynaptic terminal. Once released into the synap...
    • Glutamatergic synapse, conserved biosystem (from KEGG)
      Glutamatergic synapse, conserved biosystemGlutamate is the major excitatory neurotransmitter in the mammalian central nervous system(CNS). Glutamate is packaged into synaptic vesicles in the presynaptic terminal. Once released into the synap...
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
      Neurotransmitter Release Cycle, organism-specific biosystemNeurotransmitter is stored in the synaptic vesicle in the pre-synaptic terminal prior to its release in the synaptic cleft upon depolarization of the pre-synaptic membrane. The release of the neurotr...
    • SLC-mediated transmembrane transport, organism-specific biosystem (from REACTOME)
      SLC-mediated transmembrane transport, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP-powered pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to power the m...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
      Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
    • Transport of inorganic cations/anions and amino acids/oligopeptides, organism-specific biosystem (from REACTOME)
      Transport of inorganic cations/anions and amino acids/oligopeptides, organism-specific biosystemTeleologically, one might argue that inorganic cation and anion transport would be evolutionarily among the oldest transport functions. Eight families comprise the group that transports exclusively i...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    L-aspartate transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    L-glutamate transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    sodium:dicarboxylate symporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    symporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    L-amino acid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    L-glutamate transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    amino acid transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    aspartate transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    dicarboxylic acid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    ion transport TAS
    Traceable Author Statement
    more info
    		  
    regulation of membrane potential IEA
    Inferred from Electronic Annotation
    more info
    		  
    synaptic transmission TAS
    Traceable Author Statement
    more info
    		 PubMed 
    transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    integral to plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    membrane fraction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
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    General protein information

    Preferred Names
    excitatory amino acid transporter 4
    Names
    excitatory amino acid transporter 4
    solute carrier family 1 member 6
    sodium-dependent glutamate/aspartate transporter
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_005071.1 → NP_005062.1  excitatory amino acid transporter 4

      Status: PROVISIONAL

      Source sequence(s)
      U18244
      Consensus CDS
      CCDS12321.1
      UniProtKB/Swiss-Prot
      P48664
      Related
      ENSP00000221742, ENST00000221742
      Conserved Domains (1) summary
      cl00573
      Location:233 – 522
      Blast Score: 676
      SDF; Sodium:dicarboxylate symporter family

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000019.9 Reference GRCh37.p5 Primary Assembly

      Range
      15060991..15083730, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000151.1 Alternate HuRef

      Range
      14628814..14651489, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC004659.1 AAC15754.1
    genomic CH471106.1 EAW84456.1
      EAW84457.1
    mRNA AB209199.1 BAD92436.1
    mRNA AK302380.1 BAH13691.1
    mRNA AK312996.1 None
    mRNA BC028721.2 AAH28721.1
    mRNA BC040604.1 AAH40604.1
    mRNA U18244.1 AAA75314.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P48664.1 GenPept UniProtKB/Swiss-Prot:P48664
    Q59GB0 GenPept UniProtKB/TrEMBL:Q59GB0
    Q8N753 GenPept UniProtKB/TrEMBL:Q8N753
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

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