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

    Gene ID: 6505, updated on 5-Jan-2022

    Summary

    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
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC1A1 in Genome Data Viewer
    Location:
    9p24.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (4490466..4587469)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (4490468..4587469)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 3538 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

    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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Dicarboxylic aminoaciduria
    MedGen: C1857253 OMIM: 222730 GeneReviews: Not available
    Compare labs
    Schizophrenia 18
    MedGen: C3808913 OMIM: 615232 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genetics of coronary artery calcification among African Americans, a meta-analysis.
    EBI GWAS Catalog
    Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables D-aspartate transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables L-aspartate transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables L-glutamate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables L-glutamate transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables anion channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables chloride transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables cysteine transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables cysteine transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables glutamate binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables glutamate:sodium symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables glutamate:sodium symporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables high-affinity glutamate transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables high-affinity glutamate transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables neutral amino acid transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in D-aspartate import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in D-aspartate import across plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in D-aspartate transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in L-aspartate import across plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in L-aspartate transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in L-aspartate transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in L-aspartate transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in L-glutamate import IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in L-glutamate import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in L-glutamate import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in L-glutamate import across plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in L-glutamate transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in L-glutamate transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in activation of protein kinase B activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in adult behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in behavioral fear response IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within blood vessel morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in brain development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to ammonium ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to bisphenol A IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to cocaine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to mercury ion IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within cellular response to organic cyclic compound IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular zinc ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in chloride transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in conditioned place preference IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cysteine transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cysteine transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cytokine-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dopamine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dopamine receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glutamate homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glutamate receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glutathione biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in grooming behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart contraction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ion transport TAS
    Traceable Author Statement
    more info
     
    involved_in locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in long-term synaptic potentiation IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within maintenance of blood-brain barrier ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in memory IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in motor behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in motor neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neurogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within neuron death in response to oxidative stress ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neurotransmitter receptor transport to plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neurotransmitter transport TAS
    Traceable Author Statement
    more info
     
    involved_in peptidyl-serine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of heart rate IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of protein targeting to membrane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to amphetamine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to anesthetic IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to axon injury IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to decreased oxygen levels IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to morphine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retina layer formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in righting reflex IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in superoxide metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in synapse organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transepithelial transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in transport across blood-brain barrier ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in transport across blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in zinc ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in apical dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in asymmetric synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in axon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in axon terminus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cell periphery ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    located_in dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in dendritic shaft ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in dendritic spine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in distal dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in glial cell projection ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in integral component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in late endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in membrane raft IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuronal cell body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in perikaryon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in perisynaptic space ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in presynapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in proximal dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in recycling endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in synaptic cleft ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5042..102043
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004170.6NP_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, ENST00000262352.8
      Conserved Domains (1) summary
      pfam00375
      Location:21465
      SDF; Sodium:dicarboxylate symporter family

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

      Range
      4490466..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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