Gene Gene information from NCBI Gene database.
Entrez ID 2571
Gene name Glutamate decarboxylase 1
Gene symbol GAD1
Synonyms (NCBI Gene)
CPSQ1DEE89GADSCP
Chromosome 2
Chromosome location 2q31.1
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 path
SNPs SNP information provided by dbSNP.
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.
18
miRTarBase ID miRNA Experiments Reference
MIRT756090 hsa-miR-24-3p Luciferase reporter assayWestern 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 Transcription factors information provided by TRRUST V2 database.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605363 4092 ENSG00000128683
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
45
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Developmental and epileptic encephalopathy 89 Pathogenic; Likely pathogenic rs1161418050, rs2105795792, rs774772554, rs2105801986, rs1190356035, rs2468367688, rs1189720963, rs1181224255, rs1702866781, rs1702579715, rs1702611329, rs745595462 RCV001789738
RCV001789739
RCV001789740
RCV001789741
RCV002468714
View all (7 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities Likely pathogenic; Pathogenic rs2468338472, rs1181224255, rs1575446166 RCV003044186
RCV001836863
RCV001836925
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abnormal involuntary movement Abnormal Involuntary Movement BEFREE 28377741
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 27080467
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31207151
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 24551133
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 27080467
★☆☆☆☆
Found in Text Mining only
Agoraphobia Agoraphobia BEFREE 28806609, 31015099
★☆☆☆☆
Found in Text Mining only
Amnesia Amnesia BEFREE 29529524
★☆☆☆☆
Found in Text Mining only
Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndrome BEFREE 31088538
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 29848208
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 17942900
★☆☆☆☆
Found in Text Mining only