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

    Gene ID: 6505, updated on 4-Jan-2025

    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; AllianceGenome:HGNC:10939
    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; hEAAC1
    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
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    Genomic context

    See SLC1A1 in Genome Data Viewer
    Location:
    9p24.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (4490468..4587469)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (4494107..4591140)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (4490468..4587469)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene GLIS family zinc finger 3 Neighboring gene Sharpr-MPRA regulatory region 3194 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:4329035-4330234 Neighboring gene GLIS3 antisense RNA 2 Neighboring gene Sharpr-MPRA regulatory region 3538 Neighboring gene RNA, U6 small nuclear 694, pseudogene Neighboring gene Sharpr-MPRA regulatory region 14111 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28144 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28145 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19741 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28146 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28147 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr9:4514651-4515591 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:4605494-4606693 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:4630798-4631350 Neighboring gene spermatogenesis associated 6 like Neighboring gene ReSE screen-validated silencer GRCh37_chr9:4647337-4647509 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19743 Neighboring gene ribosomal protein S6 pseudogene 11 Neighboring gene phospholipid phosphatase 6

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (16 hits/1277 screens)

    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

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables D-aspartate transmembrane transporter activity PubMed 
    enables L-aspartate transmembrane transporter activity PubMed 
    enables L-glutamate transmembrane transporter activity  
    enables L-glutamate transmembrane transporter activity PubMed 
    enables chloride transmembrane transporter activity PubMed 
    enables cysteine transmembrane transporter activity  
    enables cysteine transmembrane transporter activity PubMed 
    enables glutamate binding  
    enables glutamate:sodium symporter activity  
    enables glutamate:sodium symporter activity PubMed 
    enables high-affinity L-glutamate transmembrane transporter activity PubMed 
    enables high-affinity L-glutamate transmembrane transporter activity  
    enables identical protein binding  
    enables metal ion binding  
    enables monoatomic anion channel activity  
    enables protein binding PubMed 
    Items 1 - 25 of 65
    Process Evidence Code Pubs
    involved_in D-aspartate import across plasma membrane PubMed 
    involved_in D-aspartate import across plasma membrane PubMed 
    involved_in D-aspartate transmembrane transport PubMed 
    involved_in G protein-coupled dopamine receptor signaling pathway  
    involved_in L-aspartate import across plasma membrane PubMed 
    involved_in L-aspartate import across plasma membrane PubMed 
    involved_in L-aspartate transmembrane transport PubMed 
    involved_in L-aspartate transmembrane transport  
    involved_in L-glutamate import PubMed 
    involved_in L-glutamate import across plasma membrane PubMed 
    involved_in L-glutamate import across plasma membrane PubMed 
    involved_in L-glutamate transmembrane transport  
    involved_in L-glutamate transmembrane transport PubMed 
    involved_in adult behavior  
    involved_in behavioral fear response  
    acts_upstream_of_or_within blood vessel morphogenesis  
    involved_in brain development  
    involved_in cellular response to ammonium ion  
    involved_in cellular response to bisphenol A  
    involved_in cellular response to cocaine  
    involved_in cellular response to mercury ion  
    acts_upstream_of_or_within cellular response to organic cyclic compound PubMed 
    involved_in cellular response to oxidative stress  
    involved_in chemical synaptic transmission PubMed 
    involved_in chloride transmembrane transport PubMed 
    involved_in conditioned place preference  
    involved_in cysteine transmembrane transport  
    involved_in cysteine transport PubMed 
    involved_in cytokine-mediated signaling pathway  
    involved_in dopamine metabolic process  
    involved_in gene expression  
    involved_in glutamate receptor signaling pathway  
    involved_in glutathione biosynthetic process  
    involved_in grooming behavior  
    involved_in heart contraction  
    involved_in intracellular glutamate homeostasis  
    involved_in intracellular zinc ion homeostasis  
    involved_in locomotory behavior  
    involved_in long-term synaptic potentiation  
    acts_upstream_of_or_within maintenance of blood-brain barrier  
    involved_in memory  
    involved_in monoatomic ion transport  
    involved_in motor behavior  
    involved_in motor neuron apoptotic process  
    involved_in negative regulation of neuron apoptotic process  
    involved_in neurogenesis  
    involved_in neurotransmitter receptor transport to plasma membrane  
    involved_in neurotransmitter transport  
    involved_in positive regulation of heart rate  
    involved_in postsynaptic modulation of chemical synaptic transmission  
    involved_in regulation of protein targeting to membrane  
    involved_in response to amphetamine  
    involved_in response to anesthetic  
    involved_in response to axon injury  
    involved_in response to decreased oxygen levels  
    involved_in response to morphine  
    involved_in response to xenobiotic stimulus  
    involved_in retina layer formation  
    involved_in righting reflex  
    involved_in superoxide metabolic process  
    involved_in synapse organization  
    involved_in transepithelial transport  
    involved_in transport across blood-brain barrier  
    involved_in transport across blood-brain barrier PubMed 
    involved_in zinc ion transmembrane transport  
    Items 1 - 25 of 65
    Items 1 - 20 of 32
    Component Evidence Code Pubs
    located_in Schaffer collateral - CA1 synapse  
    located_in apical dendrite  
    located_in apical plasma membrane PubMed 
    located_in asymmetric synapse  
    located_in axon  
    located_in axon terminus  
    located_in cell periphery  
    located_in dendrite  
    located_in dendritic shaft  
    located_in dendritic spine  
    located_in distal dendrite  
    located_in early endosome membrane  
    located_in endoplasmic reticulum  
    located_in external side of plasma membrane  
    located_in extracellular exosome PubMed 
    located_in glial cell projection  
    located_in late endosome membrane  
    located_in membrane PubMed 
    located_in membrane  
    located_in membrane raft  
    located_in neuronal cell body  
    located_in perikaryon  
    located_in perisynaptic space  
    is_active_in plasma membrane  
    is_active_in plasma membrane PubMed 
    located_in plasma membrane PubMed 
    located_in plasma membrane PubMed 
    located_in plasma membrane  
    located_in presynapse  
    located_in proximal dendrite  
    located_in recycling endosome membrane  
    located_in synaptic cleft  
    Items 1 - 20 of 32

    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_004170.6 → NP_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
      O75587, P43005, Q5VZ24, Q8N199, Q9UEW2
      UniProtKB/TrEMBL
      B2R7K1
      Related
      ENSP00000262352.3, ENST00000262352.8
      Conserved Domains (1) summary
      pfam00375
      Location:21 → 465
      SDF; Sodium:dicarboxylate symporter family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      4490468..4587469
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/TrEMBL
      B2R7K1
      Conserved Domains (1) summary
      pfam00375
      Location:74 → 488
      SDF; Sodium:dicarboxylate symporter family
    2. XM_017015042.2 → XP_016870531.1  excitatory amino acid transporter 3 isoform X3

      UniProtKB/TrEMBL
      B2R7K1
    3. XM_017015043.2 → XP_016870532.1  excitatory amino acid transporter 3 isoform X5

      UniProtKB/TrEMBL
      B2R7K1
    4. XM_011518010.2 → XP_011516312.1  excitatory amino acid transporter 3 isoform X6

      UniProtKB/TrEMBL
      B2R7K1
      Conserved Domains (1) summary
      pfam00375
      Location:40 → 418
      SDF; Sodium:dicarboxylate symporter family
    5. XM_011518008.4 → XP_011516310.1  excitatory amino acid transporter 3 isoform X2

      UniProtKB/TrEMBL
      B2R7K1
      Conserved Domains (1) summary
      pfam00375
      Location:54 → 468
      SDF; Sodium:dicarboxylate symporter family
    6. XM_011518009.4 → XP_011516311.1  excitatory amino acid transporter 3 isoform X4

      UniProtKB/TrEMBL
      B2R7K1
      Conserved Domains (1) summary
      pfam00375
      Location:31 → 445
      SDF; Sodium:dicarboxylate symporter family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      4494107..4591140
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363565.1 → XP_054219540.1  excitatory amino acid transporter 3 isoform X1

      UniProtKB/TrEMBL
      B2R7K1
    2. XM_054363568.1 → XP_054219543.1  excitatory amino acid transporter 3 isoform X3

      UniProtKB/TrEMBL
      B2R7K1
    3. XM_054363570.1 → XP_054219545.1  excitatory amino acid transporter 3 isoform X5

      UniProtKB/TrEMBL
      B2R7K1
    4. XM_054363571.1 → XP_054219546.1  excitatory amino acid transporter 3 isoform X6

      UniProtKB/TrEMBL
      B2R7K1
    5. XM_054363567.1 → XP_054219542.1  excitatory amino acid transporter 3 isoform X2

      UniProtKB/TrEMBL
      B2R7K1
    6. XM_054363566.1 → XP_054219541.1  excitatory amino acid transporter 3 isoform X2

      UniProtKB/TrEMBL
      B2R7K1
    7. XM_054363569.1 → XP_054219544.1  excitatory amino acid transporter 3 isoform X4

      UniProtKB/TrEMBL
      B2R7K1
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