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    GAD1 glutamate decarboxylase 1 [ Homo sapiens (human) ]

    Gene ID: 2571, updated on 20-Apr-2017
    Official Symbol
    GAD1provided by HGNC
    Official Full Name
    glutamate decarboxylase 1provided by HGNC
    Primary source
    HGNC:HGNC:4092
    See related
    Ensembl:ENSG00000128683 MIM:605363; Vega:OTTHUMG00000044175
    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
    GAD; SCP; CPSQ1
    Summary
    This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantigen and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Deficiency in this enzyme has been shown to lead to pyridoxine dependency with seizures. Alternative splicing of this gene results in two products, the predominant 67-kD form and a less-frequent 25-kD form. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    2q31.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (170813210..170861151)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (171673200..171717661)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101926913 Neighboring gene eukaryotic translation initiation factor 2 subunit 2 beta pseudogene 4 Neighboring gene glutamate rich 2 Neighboring gene golgi reassembly stacking protein 2 Neighboring gene uncharacterized LOC105373736

    • 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?

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Neuropathic pain induced by HIV-1 gp120 with ddC is inhibited by overexpression of GAD67 mediated by HSV vector PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ45882

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    glutamate binding IEA
    Inferred from Electronic Annotation
    more info
     
    glutamate decarboxylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glutamate decarboxylase activity TAS
    Traceable Author Statement
    more info
     
    protein N-terminus binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    pyridoxal phosphate binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    PubMed 
    gamma-aminobutyric acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    glutamate catabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    glutamate decarboxylation to succinate TAS
    Traceable Author Statement
    more info
    PubMed 
    locomotory exploration behavior IEA
    Inferred from Electronic Annotation
    more info
     
    neurotransmitter biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    neurotransmitter secretion TAS
    Traceable Author Statement
    more info
     
    protein-pyridoxal-5-phosphate linkage TAS
    Traceable Author Statement
    more info
    PubMed 
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    social behavior IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    axon IEA
    Inferred from Electronic Annotation
    more info
     
    axon terminus IEA
    Inferred from Electronic Annotation
    more info
     
    cell cortex IEA
    Inferred from Electronic Annotation
    more info
     
    clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane TAS
    Traceable Author Statement
    more info
     
    inhibitory synapse IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    presynaptic active zone IEA
    Inferred from Electronic Annotation
    more info
     
    vesicle membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Preferred Names
    glutamate decarboxylase 1
    Names
    67 kDa glutamic acid decarboxylase
    GAD-67
    glutamate decarboxylase 1 (brain, 67kDa)
    glutamate decarboxylase 67 kDa isoform
    NP_000808.2
    NP_038473.2

    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_021477.1 RefSeqGene

      Range
      5001..49462
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000817.2NP_000808.2  glutamate decarboxylase 1 isoform GAD67

      See identical proteins and their annotated locations for NP_000808.2

      Status: REVIEWED

      Description
      Transcript Variant: Transcript variant GAD67 represents the full-length and predominant form of this gene.
      Source sequence(s)
      BC026349, BC037780, M81883
      Consensus CDS
      CCDS2239.1
      UniProtKB/Swiss-Prot
      Q99259
      UniProtKB/TrEMBL
      A0A0S2Z3V5, Q8IVA8
      Related
      ENSP00000350928.3, OTTHUMP00000041054, ENST00000358196.7, OTTHUMT00000102664
      Conserved Domains (1) summary
      pfam00282
      Location:144518
      Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain
    2. NM_013445.3NP_038473.2  glutamate decarboxylase 1 isoform GAD25

      See identical proteins and their annotated locations for NP_038473.2

      Status: REVIEWED

      Description
      Transcript Variant: Transcript variant GAD25 represents a truncated form of the full-length transcript variant GAD67.
      Source sequence(s)
      BC002815, M81883
      Consensus CDS
      CCDS2240.1
      UniProtKB/Swiss-Prot
      Q99259
      Related
      ENSP00000364421.1, ENST00000375272.5
      Conserved Domains (1) summary
      cl18945
      Location:144213
      AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      170813210..170861151
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011510922.1XP_011509224.1  glutamate decarboxylase 1 isoform X1

      See identical proteins and their annotated locations for XP_011509224.1

      UniProtKB/Swiss-Prot
      Q99259
      UniProtKB/TrEMBL
      A0A0S2Z3V5
      Conserved Domains (1) summary
      pfam00282
      Location:144518
      Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain
    2. XM_017003757.1XP_016859246.1  glutamate decarboxylase 1 isoform X2

      Related
      ENSP00000486612.1, ENST00000625689.2
    3. XM_017003758.1XP_016859247.1  glutamate decarboxylase 1 isoform X3

      UniProtKB/Swiss-Prot
      Q99259
      Conserved Domains (1) summary
      cl18945
      Location:144213
      AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
    4. XM_005246444.2XP_005246501.1  glutamate decarboxylase 1 isoform X3

      See identical proteins and their annotated locations for XP_005246501.1

      UniProtKB/Swiss-Prot
      Q99259
      Related
      ENSP00000341167.5, OTTHUMP00000041055, ENST00000344257.9, OTTHUMT00000102665
      Conserved Domains (1) summary
      cl18945
      Location:144213
      AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
    5. XM_017003756.1XP_016859245.1  glutamate decarboxylase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q99259
      UniProtKB/TrEMBL
      A0A0S2Z3V5
      Conserved Domains (1) summary
      pfam00282
      Location:144518
      Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      171679435..171723884
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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