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Tbio
GAD1
Glutamate decarboxylase 1

Protein Summary
Description
Catalyzes the production of GABA. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000344257
  • ENSP00000341167
  • ENSG00000128683
  • ENST00000358196
  • ENSP00000350928
  • ENST00000375272
  • ENSP00000364421
  • ENST00000493875
  • ENSP00000434696
  • ENST00000625689
  • ENSP00000486612

Symbol
  • GAD
  • GAD67
  • GAD
  • SCP
  • CPSQ1
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
phosphatase
0.98
PubMedID
0.98
transcription factor perturbation
0.88
transcription factor
0.83
transcription factor binding site profile
0.82


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1476.3   (req: < 5)
Gene RIFs: 90   (req: <= 3)
Antibodies: 668   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1476.3   (req: >= 5)
Gene RIFs: 90   (req: > 3)
Antibodies: 668   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 13
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (4)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
cognitive function measurement
2
1
2
69.9
sex hormone-binding globulin measurement
2
1
2
69.1
intelligence
1
1
0
5.8
65.7
self reported educational attainment
1
1
1
65.2
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
cognitive function measurement
2
69.9
sex hormone-binding globulin measurement
2
69.1
intelligence
0
5.8
65.7
self reported educational attainment
1
65.2
Orthologs (13)
1 – 5 of 13
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
glutamate decarboxylase 1
VGNC:436
468557
Macaque
glutamate decarboxylase 1
613030
Mouse
MGI:95632
14415
Rat
RGD:2652
24379
Dog
glutamate decarboxylase 1
VGNC:41067
478794
Species
Name
OMA
EggNOG
Inparanoid
Chimp
glutamate decarboxylase 1
Macaque
glutamate decarboxylase 1
Mouse
Rat
Dog
glutamate decarboxylase 1
Protein Structure (2 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-Q99259-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 2 of 2
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (30)
GABA synthesis (R-HSA-888568)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 10
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
GABA synthesis
Reactome
GABA synthesis, release, reuptake and degradation
Reactome
Gene expression (Transcription)
Reactome
Generic Transcription Pathway
Reactome
MECP2 regulates transcription of genes involved in GABA signaling
Name
Explore in Pharos
Explore in Source
GABA synthesis
GABA synthesis, release, reuptake and degradation
Gene expression (Transcription)
Generic Transcription Pathway
MECP2 regulates transcription of genes involved in GABA signaling
Gene Ontology Terms (21)
Items per page:
10
1 – 5 of 5
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Electronic Annotation (IEA)
Ensembl
Inferred from Electronic Annotation (IEA)
Ensembl
Inferred from Electronic Annotation (IEA)
Ensembl
Inferred from Electronic Annotation (IEA)
Ensembl
Protein-Protein Interactions (270)
1 – 10 of 270
FGFR1
Tclin
Family: Kinase
Novelty: 0.00055714
p_int: 0.886314364
p_ni: 0.113669394
p_wrong: 0.000016242
Score: 0.4
Data Source: BioPlex,STRINGDB
SLC32A1
Tchem
Family: Transporter
Novelty: 0.00237273
Score: 0.999
Data Source: STRINGDB
ABAT
Tclin
Family: Enzyme
Novelty: 0.0078359
Score: 0.981
Data Source: STRINGDB
SNAP25
Tclin
Novelty: 0.00148905
Score: 0.959
Data Source: STRINGDB
GAD2
Tbio
Family: Enzyme
Novelty: 0.00058427
Score: 0.956
Data Source: Reactome,STRINGDB
SYT1
Tbio
Novelty: 0.00176103
Score: 0.949
Data Source: STRINGDB
GLUL
Tchem
Family: Enzyme
Novelty: 0.00086054
Score: 0.948
Data Source: STRINGDB
RAB3A
Tbio
Family: Enzyme
Novelty: 0.0043532
Score: 0.945
Data Source: STRINGDB
GLS2
Tbio
Family: Enzyme
Novelty: 0.00284878
Score: 0.941
Data Source: STRINGDB
GLS
Tchem
Family: Enzyme
Novelty: 0.00321692
Score: 0.938
Data Source: STRINGDB
Publication Statistics
PubMed Score  1476.30

PubMed score by year
PubTator Score  1109.21

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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