GAD1 (glutamate decarboxylase 1)

Gene
Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2571
Gene name Gene Name - the full gene name approved by the HGNC.
Glutamate decarboxylase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GAD1
Synonyms (NCBI Gene) Gene synonyms aliases
CPSQ1, DEE89, GAD, SCP
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q31.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 path
SNPs SNP information provided by dbSNP.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs121918345 C>G,T Pathogenic Genic upstream transcript variant, coding sequence variant, missense variant
rs774953382 C>G,T Likely-pathogenic Missense variant, coding sequence variant, genic downstream transcript variant
rs1575446166 T>G Likely-pathogenic Genic downstream transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(18)
miRTarBase ID miRNA Experiments Reference
MIRT756090 hsa-miR-24-3p Luciferase reporter assay, Western blotting 36814556
MIRT1010176 hsa-miR-105 CLIP-seq
MIRT1010177 hsa-miR-1253 CLIP-seq
MIRT1010178 hsa-miR-1324 CLIP-seq
MIRT1010179 hsa-miR-2278 CLIP-seq
Transcription factors
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(5)
Transcription factor Regulation Reference
ARNT Unknown 18335162
DNMT1 Repression 19029285
HDAC1 Repression 19029285
MECP2 Repression 19029285
XBP1 Unknown 18335162
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(35)
GO ID Ontology Definition Evidence Reference
GO:0004351 Function Glutamate decarboxylase activity IBA
GO:0004351 Function Glutamate decarboxylase activity IDA 10671565, 17384644
GO:0004351 Function Glutamate decarboxylase activity IEA
GO:0005515 Function Protein binding IPI 10671565, 16189514, 17474147, 21516116, 25416956, 26871637, 31515488, 32296183
GO:0005737 Component Cytoplasm IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
605363 4092 ENSG00000128683
Protein
Gene SNPs Transcription factors Other IDs Associated diseases
UniProt ID Q99259
Protein name Glutamate decarboxylase 1 (EC 4.1.1.15) (67 kDa glutamic acid decarboxylase) (GAD-67) (Glutamate decarboxylase 67 kDa isoform)
Protein function Catalyzes the synthesis of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA) with pyridoxal 5'-phosphate as cofactor. ; [Isoform 3]: Enzymatically inactive as glut
PDB 2OKJ , 3VP6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00282 Pyridoxal_deC 144 → 518 Pyridoxal-dependent decarboxylase conserved domain Domain
Tissue specificity TISSUE SPECIFICITY: [Isoform 1]: Expressed in brain. {ECO:0000269|PubMed:10671565}.; TISSUE SPECIFICITY: [Isoform 3]: Expressed in pancreatic islets, testis, adrenal cortex, and perhaps other endocrine tissues, but not in brain. {ECO:0000269|PubMed:106715
Sequence
Sequence length 594
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Developmental And Epileptic Encephalopathy Developmental and epileptic encephalopathy 89 rs1181224255 N/A
Show/Hide Unknown Diseases (7)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cerebral Palsy Cerebral palsy spastic quadriplegic N/A N/A ClinVar
Cerebral palsy spastic quadriplegic cerebral palsy N/A N/A GenCC
Diabetes Type 2 diabetes N/A N/A GWAS
Epileptic encephalopathy early infantile epileptic encephalopathy N/A N/A GenCC
Show/Hide Text Mining Associations (74)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 24551133
Adenocarcinoma of Lung Associate 31207151
Adenoma Islet Cell Associate 26676824
Adenoma Islet Cell Stimulate 32686271
Autistic Disorder Associate 21901839
Autoimmune Diseases Associate 10209508, 1924293, 21744463, 31733941, 8513574
Autoimmune Diseases of the Nervous System Associate 31061195
Autoimmune polyendocrinopathy syndrome type 1 Associate 10594551
Bipolar Disorder Associate 15684088, 17442540, 18294085, 26554713
Bipolar Disorder Inhibit 19564623