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    SLC1A3 solute carrier family 1 member 3 [ Homo sapiens (human) ]

    Gene ID: 6507, updated on 10-Dec-2024

    Summary

    Official Symbol
    SLC1A3provided by HGNC
    Official Full Name
    solute carrier family 1 member 3provided by HGNC
    Primary source
    HGNC:HGNC:10941
    See related
    Ensembl:ENSG00000079215 MIM:600111; AllianceGenome:HGNC:10941
    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
    EA6; EAAT1; GLAST; GLAST1
    Summary
    This gene encodes a member of a member of a high affinity glutamate transporter family. This gene functions in the termination of excitatory neurotransmission in central nervous system. Mutations are associated with episodic ataxia, Type 6. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2014]
    Expression
    Biased expression in brain (RPKM 174.8) and fat (RPKM 10.9) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See SLC1A3 in Genome Data Viewer
    Location:
    5p13.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (36606606..36688334)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (36856459..36938148)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (36606708..36688436)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900963 Neighboring gene Sharpr-MPRA regulatory region 9147 Neighboring gene MPRA-validated peak5226 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr5:36590466-36591251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22479 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:36619081-36619595 Neighboring gene ribosomal protein L39 pseudogene 22 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:36646148-36647347 Neighboring gene SLC1A3 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15973 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22480 Neighboring gene Sharpr-MPRA regulatory region 9536 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22481 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22483 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22484 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15976 Neighboring gene NIPBL divergent transcript Neighboring gene keratin 18 pseudogene 31 Neighboring gene NIPBL cohesin loading factor

    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?

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • FLJ25094

    Gene Ontology Provided by GOA

    Items 1 - 25 of 34
    Process Evidence Code Pubs
    involved_in D-aspartate import across plasma membrane  
    involved_in D-aspartate import across plasma membrane PubMed 
    involved_in D-aspartate import across plasma membrane PubMed 
    involved_in L-aspartate import across plasma membrane  
    involved_in L-aspartate import across plasma membrane PubMed 
    involved_in L-aspartate import across plasma membrane PubMed 
    involved_in L-glutamate import PubMed 
    involved_in L-glutamate import across plasma membrane  
    involved_in L-glutamate import across plasma membrane PubMed 
    involved_in L-glutamate import across plasma membrane PubMed 
    involved_in L-glutamate transmembrane transport PubMed 
    involved_in auditory behavior  
    involved_in cell morphogenesis involved in neuron differentiation  
    involved_in cellular response to cocaine  
    involved_in chemical synaptic transmission PubMed 
    involved_in chloride transmembrane transport PubMed 
    involved_in cranial nerve development  
    involved_in gamma-aminobutyric acid biosynthetic process  
    involved_in intracellular sodium ion homeostasis  
    involved_in monoatomic ion transport  
    involved_in neuromuscular process controlling balance  
    involved_in neurotransmitter transport  
    involved_in neurotransmitter uptake PubMed 
    involved_in neutral amino acid transport  
    involved_in positive regulation of synaptic transmission  
    involved_in potassium ion transmembrane transport PubMed 
    involved_in response to antibiotic  
    involved_in response to light stimulus  
    involved_in response to wounding  
    involved_in response to xenobiotic stimulus  
    involved_in sensory perception of sound  
    involved_in transepithelial transport  
    involved_in transport across blood-brain barrier  
    involved_in transport across blood-brain barrier PubMed 
    Items 1 - 25 of 34
    Component Evidence Code Pubs
    located_in basal plasma membrane  
    located_in cell surface  
    located_in cytoplasmic vesicle  
    located_in membrane PubMed 
    part_of membrane protein complex  
    located_in neuron projection  
    located_in neuronal cell body  
    located_in perinuclear region of cytoplasm  
    is_active_in plasma membrane  
    located_in plasma membrane PubMed 
    located_in plasma membrane  
    located_in plasma membrane  
    located_in synapse  

    General protein information

    Preferred Names
    excitatory amino acid transporter 1
    Names
    GLAST-1
    glutamate/aspartate transporter 1
    sodium-dependent glutamate/aspartate transporter 1
    solute carrier family 1 (glial high affinity glutamate transporter), member 3

    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_015890.1 RefSeqGene

      Range
      5252..86980
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001166695.3 → NP_001160167.1  excitatory amino acid transporter 1 isoform 2

      See identical proteins and their annotated locations for NP_001160167.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (GLAST1b, PMID:16042756) lacks an alternate in-frame exon in the 3' coding region, compared to variant GLAST. The encoded protein (isoform 2) is shorter, compared to isoform 1.
      Source sequence(s)
      AC008957, AF070609, AY954110, BC037310, DC320625
      Consensus CDS
      CCDS54844.1
      UniProtKB/TrEMBL
      Q8N169
      Related
      ENSP00000506424.1, ENST00000680125.1
      Conserved Domains (1) summary
      pfam00375
      Location:50 → 452
      SDF; Sodium:dicarboxylate symporter family
    2. NM_001166696.3 → NP_001160168.1  excitatory amino acid transporter 1 isoform 3

      See identical proteins and their annotated locations for NP_001160168.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and has multiple coding differences compared to variant GLAST. The encoded protein (isoform 3) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC010631, BC022285, DC320625
      Consensus CDS
      CCDS93705.1
      UniProtKB/TrEMBL
      A0A7P0T7Q9, Q7Z5T0
      Related
      ENSP00000506048.1, ENST00000512374.1
    3. NM_001289939.2 → NP_001276868.1  excitatory amino acid transporter 1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (GLAST1a) lacks an alternate in-frame exon in the 5' coding region, compared to variant GLAST. The encoded protein (isoform 4) is shorter, compared to isoform 1.
      Source sequence(s)
      AF070609, AK057823, AK293886, BC022285, BC037310, DC320625
      Consensus CDS
      CCDS78004.1
      UniProtKB/TrEMBL
      A0A087WT87, B4DF14
      Related
      ENSP00000506599.1, ENST00000681909.1
      Conserved Domains (1) summary
      pfam00375
      Location:45 → 451
      SDF; Sodium:dicarboxylate symporter family
    4. NM_001289940.2 → NP_001276869.1  excitatory amino acid transporter 1 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (GLAST1c, PMID:22026960) lacks two alternate in-frame exons in the coding region, compared to variant GLAST. The encoded protein (isoform 5) is shorter, compared to isoform 1.
      Source sequence(s)
      AC008957, AF070609, AK312304, BC037310
      Consensus CDS
      CCDS78003.1
      UniProtKB/TrEMBL
      A0A087X0U3
      Related
      ENSP00000483657.1, ENST00000612708.5
      Conserved Domains (1) summary
      pfam00375
      Location:50 → 385
      SDF; Sodium:dicarboxylate symporter family
    5. NM_004172.5 → NP_004163.3  excitatory amino acid transporter 1 isoform 1

      See identical proteins and their annotated locations for NP_004163.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (GLAST) represents the longest transcript and encodes the longest protein (isoform 1).
      Source sequence(s)
      AF070609, AK057823, BC037310, D26443, DC320625
      Consensus CDS
      CCDS3919.1
      UniProtKB/Swiss-Prot
      B2R5T3, P43003, Q4JCQ8
      UniProtKB/TrEMBL
      Q8N169
      Related
      ENSP00000265113.4, ENST00000265113.9
      Conserved Domains (1) summary
      pfam00375
      Location:50 → 497
      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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      36606606..36688334
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005248342.4 → XP_005248399.1  excitatory amino acid transporter 1 isoform X1

      See identical proteins and their annotated locations for XP_005248399.1

      UniProtKB/Swiss-Prot
      B2R5T3, P43003, Q4JCQ8
      UniProtKB/TrEMBL
      Q8N169
      Conserved Domains (1) summary
      pfam00375
      Location:50 → 497
      SDF; Sodium:dicarboxylate symporter family
    2. XM_047417539.1 → XP_047273495.1  excitatory amino acid transporter 1 isoform X2

      UniProtKB/TrEMBL
      Q8N169
      Related
      ENSP00000505850.1, ENST00000681926.1
    3. XM_047417540.1 → XP_047273496.1  excitatory amino acid transporter 1 isoform X3

      UniProtKB/TrEMBL
      B4DF14

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      36856459..36938148
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353189.1 → XP_054209164.1  excitatory amino acid transporter 1 isoform X1

      UniProtKB/Swiss-Prot
      B2R5T3, P43003, Q4JCQ8
      UniProtKB/TrEMBL
      Q8N169
    2. XM_054353190.1 → XP_054209165.1  excitatory amino acid transporter 1 isoform X2

      UniProtKB/TrEMBL
      Q8N169
    3. XM_054353191.1 → XP_054209166.1  excitatory amino acid transporter 1 isoform X3

      UniProtKB/TrEMBL
      B4DF14
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