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    GAD1 glutamate decarboxylase 1 [ Homo sapiens (human) ]

    Gene ID: 2571, updated on 3-Dec-2024

    Summary

    Official Symbol
    GAD1provided by HGNC
    Official Full Name
    glutamate decarboxylase 1provided by HGNC
    Primary source
    HGNC:HGNC:4092
    See related
    Ensembl:ENSG00000128683 MIM:605363; AllianceGenome:HGNC:4092
    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; DEE89
    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]
    Expression
    Biased expression in brain (RPKM 27.1) and kidney (RPKM 1.8) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See GAD1 in Genome Data Viewer
    Location:
    2q31.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (170813210..170861151)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (171290353..171338262)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (171673397..171717661)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ERICH2 divergent transcript Neighboring gene eukaryotic translation initiation factor 2 subunit 2 beta pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12091 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12092 Neighboring gene glutamate rich 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12093 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_55930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:171674788-171675311 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:171675312-171675834 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:171679351-171680150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16744 Neighboring gene Sharpr-MPRA regulatory region 14 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12094 Neighboring gene golgi reassembly stacking protein 2 Neighboring gene uncharacterized LOC124906091 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12095

    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?

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ45882

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glutamate decarboxylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables glutamate decarboxylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables pyridoxal phosphate binding IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in axon terminus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell cortex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in inhibitory synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in presynaptic active zone IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in vesicle membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    glutamate decarboxylase 1
    Names
    67 kDa glutamic acid decarboxylase
    GAD-67
    glutamate decarboxylase 1 (brain, 67kDa)
    NP_000808.2
    NP_038473.2
    XP_011509224.1
    XP_016859245.1
    XP_016859247.1
    XP_024308551.1
    XP_047299830.1
    XP_047299831.1
    XP_054197263.1
    XP_054197264.1
    XP_054197265.1
    XP_054197266.1
    XP_054197267.1
    XP_054197268.1

    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_021477.2 RefSeqGene

      Range
      8679..52943
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000817.3NP_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)
      AC007405
      Consensus CDS
      CCDS2239.1
      UniProtKB/Swiss-Prot
      Q49AK1, Q53TQ7, Q99259, Q9BU91, Q9UHH4
      UniProtKB/TrEMBL
      A0A0S2Z3V5, A8K967
      Related
      ENSP00000350928.3, ENST00000358196.8
      Conserved Domains (1) summary
      pfam00282
      Location:144518
      Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain
    2. NM_013445.4NP_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/TrEMBL
      F8WD43
      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: 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_000002.12 Reference GRCh38.p14 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
      Q49AK1, Q53TQ7, Q99259, Q9BU91, Q9UHH4
      UniProtKB/TrEMBL
      A0A0S2Z3V5, A8K967
      Conserved Domains (1) summary
      pfam00282
      Location:144518
      Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain
    2. XM_017003758.3XP_016859247.1  glutamate decarboxylase 1 isoform X4

      UniProtKB/TrEMBL
      F8WD43
      Related
      ENSP00000403849.1, ENST00000414527.6
      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 ...
    3. XM_017003756.2XP_016859245.1  glutamate decarboxylase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q49AK1, Q53TQ7, Q99259, Q9BU91, Q9UHH4
      UniProtKB/TrEMBL
      A0A0S2Z3V5, A8K967
      Conserved Domains (1) summary
      pfam00282
      Location:144518
      Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain
    4. XM_047443875.1XP_047299831.1  glutamate decarboxylase 1 isoform X4

      UniProtKB/TrEMBL
      F8WD43
    5. XM_047443874.1XP_047299830.1  glutamate decarboxylase 1 isoform X2

    6. XM_024452783.2XP_024308551.1  glutamate decarboxylase 1 isoform X3

      Conserved Domains (1) summary
      cl18945
      Location:1262
      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      171290353..171338262
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341289.1XP_054197264.1  glutamate decarboxylase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q49AK1, Q53TQ7, Q99259, Q9BU91, Q9UHH4
      UniProtKB/TrEMBL
      A0A0S2Z3V5, A8K967
    2. XM_054341293.1XP_054197268.1  glutamate decarboxylase 1 isoform X4

      UniProtKB/TrEMBL
      F8WD43
    3. XM_054341288.1XP_054197263.1  glutamate decarboxylase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q49AK1, Q53TQ7, Q99259, Q9BU91, Q9UHH4
      UniProtKB/TrEMBL
      A0A0S2Z3V5, A8K967
    4. XM_054341292.1XP_054197267.1  glutamate decarboxylase 1 isoform X4

      UniProtKB/TrEMBL
      F8WD43
    5. XM_054341290.1XP_054197265.1  glutamate decarboxylase 1 isoform X2

    6. XM_054341291.1XP_054197266.1  glutamate decarboxylase 1 isoform X3