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GAD1 glutamate decarboxylase 1 (brain, 67kDa) [ Homo sapiens (human) ]

Gene ID: 2571, updated on 7-Dec-2014
Official Symbol
GAD1provided by HGNC
Official Full Name
glutamate decarboxylase 1 (brain, 67kDa)provided by HGNC
Primary source
HGNC:HGNC:4092
See related
Ensembl:ENSG00000128683; HPRD:12011; 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]
See GAD1 in Epigenomics, MapViewer
Location:
2q31
Exon count:
19
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 2 NC_000002.12 (170816690..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, 55kDa Neighboring gene tousled-like kinase 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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 
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
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 
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
 
synaptic transmission TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane TAS
Traceable Author Statement
more info
 
intracellular IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
vesicle membrane NAS
Non-traceable Author Statement
more info
PubMed 
Preferred Names
glutamate decarboxylase 1
Names
glutamate decarboxylase 1
GAD-67
67 kDa glutamic acid decarboxylase
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 

    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 proteins identical to 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/TrEMBL
    Q8IVA8
    UniProtKB/Swiss-Prot
    Q99259
    Related
    ENSP00000350928, OTTHUMP00000041054, ENST00000358196, OTTHUMT00000102664
    Conserved Domains (1) summary
    cd06450
    Location:187590
    DOPA_deC_like; DOPA decarboxylase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD correspond to DOPA/tyrosine decarboxylase (DDC), histidine decarboxylase (HDC), and ...
  2. NM_013445.3NP_038473.2  glutamate decarboxylase 1 isoform GAD25

    See proteins identical to 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, ENST00000375272
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

    Range
    170816690..170861151
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005246444.2XP_005246501.1  

    See proteins identical to XP_005246501.1

    UniProtKB/Swiss-Prot
    Q99259
    Related
    ENSP00000341167, OTTHUMP00000041055, ENST00000344257, 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 ...
  2. XM_005246443.2XP_005246500.1  

    See proteins identical to XP_005246500.1

    UniProtKB/Swiss-Prot
    Q99259
    Conserved Domains (1) summary
    cd06450
    Location:187590
    DOPA_deC_like; DOPA decarboxylase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD correspond to DOPA/tyrosine decarboxylase (DDC), histidine decarboxylase (HDC), and ...

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

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

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    163562349..163606375
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)