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    SLC1A6 solute carrier family 1 member 6 [ Homo sapiens (human) ]

    Gene ID: 6511, updated on 13-Feb-2019

    Summary

    Official Symbol
    SLC1A6provided by HGNC
    Official Full Name
    solute carrier family 1 member 6provided by HGNC
    Primary source
    HGNC:HGNC:10944
    See related
    Ensembl:ENSG00000105143 MIM:600637
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EAAT4
    Expression
    Biased expression in testis (RPKM 7.7), brain (RPKM 2.7) and 1 other tissue See more
    Orthologs

    Genomic context

    See SLC1A6 in Genome Data Viewer
    Location:
    19p13.12
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (14950033..15010643, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (15060845..15121455, complement)

    Chromosome 19 - NC_000019.10Genomic 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

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC33092, MGC43671

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    L-aspartate transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    high-affinity glutamate transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    L-aspartate transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    L-glutamate import across plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    L-glutamate transmembrane transport TAS
    Traceable Author Statement
    more info
    PubMed 
    aspartate transmembrane transport TAS
    Traceable Author Statement
    more info
    PubMed 
    chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    PubMed 
    glutamate secretion TAS
    Traceable Author Statement
    more info
     
    ion transport TAS
    Traceable Author Statement
    more info
     
    neurotransmitter uptake EXP
    Inferred from Experiment
    more info
    PubMed 
    regulation of membrane potential IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    integral component of presynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    intermediate filament cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    excitatory amino acid transporter 4
    Names
    sodium-dependent glutamate/aspartate transporter
    solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6

    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_001272087.1NP_001259016.1  excitatory amino acid transporter 4 isoform 1

      See identical proteins and their annotated locations for NP_001259016.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AC004659, BC028721, BC040604, BI829415, DA059558
      Consensus CDS
      CCDS62578.1
      UniProtKB/Swiss-Prot
      P48664
      Related
      ENSP00000471781.1, ENST00000598504.5
      Conserved Domains (1) summary
      cl00573
      Location:58312
      SDF; Sodium:dicarboxylate symporter family
    2. NM_001272088.1NP_001259017.1  excitatory amino acid transporter 4 isoform 1

      See identical proteins and their annotated locations for NP_001259017.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AC004659, BC028721, DA059558, DR004792
      Consensus CDS
      CCDS62578.1
      UniProtKB/Swiss-Prot
      P48664
      Related
      ENSP00000446175.1, ENST00000544886.6
      Conserved Domains (1) summary
      cl00573
      Location:58312
      SDF; Sodium:dicarboxylate symporter family
    3. NM_005071.2NP_005062.1  excitatory amino acid transporter 4 isoform 2

      See identical proteins and their annotated locations for NP_005062.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and its transcription extends past a splice site that is used in variant 1, resulting in a novel 3' coding region and 3' UTR compared to variant 1. It encodes isoform 2 which is longer and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK302380, BC028721, HY352099, U18244
      Consensus CDS
      CCDS12321.1
      UniProtKB/Swiss-Prot
      P48664
      UniProtKB/TrEMBL
      B7Z7Q5
      Related
      ENSP00000221742.3, ENST00000221742.7
      Conserved Domains (1) summary
      pfam00375
      Location:58522
      SDF; Sodium:dicarboxylate symporter family

    RNA

    1. NR_073589.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate 5' and 3' exon structure, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK302380, DA200776, DB027852, HY352099, U18244
      Related
      ENST00000430939.6

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

      Range
      14950033..15010643 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006722842.2XP_006722905.1  excitatory amino acid transporter 4 isoform X1

      See identical proteins and their annotated locations for XP_006722905.1

      UniProtKB/Swiss-Prot
      P48664
      Conserved Domains (1) summary
      pfam00375
      Location:58522
      SDF; Sodium:dicarboxylate symporter family
    2. XM_006722844.1XP_006722907.1  excitatory amino acid transporter 4 isoform X1

      See identical proteins and their annotated locations for XP_006722907.1

      UniProtKB/Swiss-Prot
      P48664
      Conserved Domains (1) summary
      pfam00375
      Location:58522
      SDF; Sodium:dicarboxylate symporter family
    3. XM_017027152.2XP_016882641.1  excitatory amino acid transporter 4 isoform X1

      UniProtKB/Swiss-Prot
      P48664
      Related
      ENSP00000471038.1, ENST00000600144.5
      Conserved Domains (1) summary
      pfam00375
      Location:58522
      SDF; Sodium:dicarboxylate symporter family
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