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    SLC1A1 solute carrier family 1 member 1 [ Homo sapiens (human) ]

    Gene ID: 6505, updated on 8-Apr-2018
    Official Symbol
    SLC1A1provided by HGNC
    Official Full Name
    solute carrier family 1 member 1provided by HGNC
    Primary source
    HGNC:HGNC:10939
    See related
    Ensembl:ENSG00000106688 MIM:133550; Vega:OTTHUMG00000019468
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DCBXA; EAAC1; EAAT3; SCZD18
    Summary
    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]
    Expression
    Biased expression in small intestine (RPKM 11.7), kidney (RPKM 8.4) and 12 other tissues See more
    Orthologs
    Location:
    9p24.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (4490427..4587469)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (4490427..4587469)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene GLIS family zinc finger 3 Neighboring gene uncharacterized LOC107986989 Neighboring gene RNA, U6 small nuclear 694, pseudogene Neighboring gene spermatogenesis associated 6 like Neighboring gene ribosomal protein S6 pseudogene 11 Neighboring gene phospholipid phosphatase 6

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Schizophrenia 18
    MedGen: C3808913 OMIM: 615232 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genetics of coronary artery calcification among African Americans, a meta-analysis.
    NHGRI GWA Catalog
    Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.
    NHGRI GWA Catalog
    • 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...
    • Protein digestion and absorption, organism-specific biosystem (from KEGG)
      Protein digestion and absorption, organism-specific biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
    • Protein digestion and absorption, conserved biosystem (from KEGG)
      Protein digestion and absorption, conserved biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    L-glutamate transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    amino acid transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    chloride transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cysteine transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glutamate binding IEA
    Inferred from Electronic Annotation
    more info
     
    glutamate:sodium symporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    high-affinity glutamate transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    high-affinity glutamate transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    D-aspartate import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    D-aspartate import across plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    L-aspartate import across plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    L-glutamate import IDA
    Inferred from Direct Assay
    more info
    PubMed 
    L-glutamate import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    L-glutamate import across plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    L-glutamate transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    PubMed 
    chloride transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cysteine transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    cysteine transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glutamate secretion TAS
    Traceable Author Statement
    more info
     
    ion transport TAS
    Traceable Author Statement
    more info
     
    positive regulation of heart rate IEA
    Inferred from Electronic Annotation
    more info
     
    protein homooligomerization IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome HDA PubMed 
    integral component of plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    excitatory amino acid transporter 3
    Names
    excitatory amino acid carrier 1
    neuronal and epithelial glutamate transporter
    sodium-dependent glutamate/aspartate transporter 3
    solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1

    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.

    Genomic

    1. NG_017044.1 RefSeqGene

      Range
      5001..102043
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004170.5NP_004161.4  excitatory amino acid transporter 3

      See identical proteins and their annotated locations for NP_004161.4

      Status: REVIEWED

      Source sequence(s)
      AB008536, BQ008494, BQ029108, DA643262, U03506
      Consensus CDS
      CCDS6452.1
      UniProtKB/Swiss-Prot
      P43005
      Related
      ENSP00000262352.3, OTTHUMP00000021006, ENST00000262352.7, OTTHUMT00000051571
      Conserved Domains (1) summary
      pfam00375
      Location:21465
      SDF; Sodium:dicarboxylate symporter family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

      Range
      4490427..4587469
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017015043.1XP_016870532.1  excitatory amino acid transporter 3 isoform X5

    2. XM_011518007.1XP_011516309.1  excitatory amino acid transporter 3 isoform X1

      Conserved Domains (1) summary
      pfam00375
      Location:74488
      SDF; Sodium:dicarboxylate symporter family
    3. XM_017015042.1XP_016870531.1  excitatory amino acid transporter 3 isoform X3

    4. XM_011518010.1XP_011516312.1  excitatory amino acid transporter 3 isoform X6

      Conserved Domains (1) summary
      pfam00375
      Location:40418
      SDF; Sodium:dicarboxylate symporter family
    5. XM_011518008.3XP_011516310.1  excitatory amino acid transporter 3 isoform X2

      Conserved Domains (1) summary
      pfam00375
      Location:54468
      SDF; Sodium:dicarboxylate symporter family
    6. XM_011518009.3XP_011516311.1  excitatory amino acid transporter 3 isoform X4

      Conserved Domains (1) summary
      pfam00375
      Location:31445
      SDF; Sodium:dicarboxylate symporter family
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