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GAD1 glutamate decarboxylase 1 [ Homo sapiens (human) ]

Gene ID: 2571, updated on 9-Dec-2018

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
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]
Expression
Biased expression in brain (RPKM 27.1) and kidney (RPKM 1.8) See more
Orthologs

Genomic context

See GAD1 in Genome Data Viewer
Location:
2q31.1
Exon count:
21
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 tousled like kinase 1 Neighboring gene uncharacterized protein C9orf85-like

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat'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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 
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 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
 
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 

General protein information

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
XP_005246501.1
XP_011509224.1
XP_016859245.1
XP_016859246.1
XP_016859247.1
XP_024308551.1

NCBI Reference Sequences (RefSeq)

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_000817.3NP_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
    Q99259
    UniProtKB/TrEMBL
    A0A0S2Z3V5, Q8IVA8
    Related
    ENSP00000350928.3, ENST00000358196.7
    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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 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_017003757.2XP_016859246.1  glutamate decarboxylase 1 isoform X2

    Related
    ENSP00000486612.1, ENST00000625689.2
  3. XM_017003758.2XP_016859247.1  glutamate decarboxylase 1 isoform X4

    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_005246444.3XP_005246501.1  glutamate decarboxylase 1 isoform X4

    See identical proteins and their annotated locations for XP_005246501.1

    UniProtKB/Swiss-Prot
    Q99259
    Related
    ENSP00000341167.5, ENST00000344257.9
    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
  6. XM_024452783.1XP_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 ...
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