Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

    SLC32A1 solute carrier family 32 member 1 [ Homo sapiens (human) ]

    Gene ID: 140679, updated on 5-Jan-2022

    Summary

    Official Symbol
    SLC32A1provided by HGNC
    Official Full Name
    solute carrier family 32 member 1provided by HGNC
    Primary source
    HGNC:HGNC:11018
    See related
    Ensembl:ENSG00000101438 MIM:616440
    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
    VGAT; VIAAT
    Summary
    The protein encoded by this gene is an integral membrane protein involved in gamma-aminobutyric acid (GABA) and glycine uptake into synaptic vesicles. The encoded protein is a member of amino acid/polyamine transporter family II. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward brain (RPKM 6.2) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC32A1 in Genome Data Viewer
    Location:
    20q11.23
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (38724486..38729372)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (37353129..37358015)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene GATA motif-containing MPRA enhancer 112/113 Neighboring gene VISTA enhancer hs2620 Neighboring gene RN7SK pseudogene 173 Neighboring gene actin related protein 5 Neighboring gene protein phosphatase 1 regulatory subunit 16B Neighboring gene Sharpr-MPRA regulatory region 4490

    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
    Biological insights from 108 schizophrenia-associated genetic loci.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in aging IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in amino acid transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gamma-aminobutyric acid transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glycine transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hippocampus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ion transport TAS
    Traceable Author Statement
    more info
     
    involved_in neurotransmitter loading into synaptic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in neurotransmitter secretion TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell tip IEA
    Inferred from Electronic Annotation
    more info
     
    located_in clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in cone cell pedicle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in dendrite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in dendrite terminus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in inhibitory synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in integral component of synaptic vesicle membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in neuron projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in neuron projection terminus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in neuron projection terminus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in presynaptic active zone IEA
    Inferred from Electronic Annotation
    more info
     
    located_in synaptic vesicle membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    vesicular inhibitory amino acid transporter
    Names
    GABA and glycine transporter
    hVIAAT
    solute carrier family 32 (GABA vesicular transporter), member 1
    vesicular GABA transporter

    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.

    mRNA and Protein(s)

    1. NM_080552.3NP_542119.1  vesicular inhibitory amino acid transporter

      See identical proteins and their annotated locations for NP_542119.1

      Status: REVIEWED

      Source sequence(s)
      BC053582, BI488536
      Consensus CDS
      CCDS13307.1
      UniProtKB/Swiss-Prot
      Q9H598
      Related
      ENSP00000217420.1, ENST00000217420.2
      Conserved Domains (1) summary
      pfam01490
      Location:115512
      Aa_trans; Transmembrane amino acid transporter protein

    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_000020.11 Reference GRCh38.p13 Primary Assembly

      Range
      38724486..38729372
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center