GAD1 - glutamate decarboxylase 1 Gene
Also Known as GAD; SCP; CPSQ1; DEE89
Species: Homo sapiens
About GAD1
This gene has 17 transcripts (splice variants), 282 orthologues, 7 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 27.1) and kidney (RPKM 1.8).
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]
GAD1 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_000817.3 | NP_000808.2 | glutamate decarboxylase 1 isoform GAD67 |
| NM_013445.4 | NP_038473.2 | glutamate decarboxylase 1 isoform GAD25 |
| Molecular Function GO Annotation | Evidence | Referencias | Source |
|---|---|---|---|
| enables glutamate decarboxylase activity |
IDA
IDA: Inferred from direct assay
|
10671565 | GOA |
| enables identical protein binding |
IDA
IDA: Inferred from direct assay
|
17384644 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
10671565 | GOA |
| Biological Process GO Annotation | Evidence | Referencias | Source |
|---|---|---|---|
| involved in gamma-aminobutyric acid biosynthetic process |
IDA
IDA: Inferred from direct assay
|
17384644 | GOA |
| involved in glutamate catabolic process |
IDA
IDA: Inferred from direct assay
|
17384644 | GOA |
GAD1 Protein Structure
Pyridoxal_deC: Pyridoxal-dependent decarboxylase conserved domain (151 - 517)
- 0
- 100
- 200
- 300
- 400
- 500
- 594 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
glutamate decarboxylase 1 |
|
GAD1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Referencias |
|---|---|---|---|---|---|---|---|
|
Intra
|
GAD1 | Q99259 | AGTRAP | Homo sapiens | Q6RW13-2 | 26871637 | |
|
Intra
|
GAD1 | Q99259 | AGTRAP | Homo sapiens | Q6RW13-2 | 32296183 | |
|
Intra
|
GAD1 | Q99259 | AGTRAP | Homo sapiens | Q6RW13-2 | 26871637 | |
|
Intra
|
GAD1 | Q99259 | AGTRAP | Homo sapiens | Q6RW13-2 | 26871637 | |
|
Intra
|
GAD1 | Q99259 | AGTRAP | Homo sapiens | Q6RW13-2 | 32296183 | |
|
Intra
|
GAD1 | Q99259 | CMTM5 | Homo sapiens | Q96DZ9-2 | 32296183 | |
|
Intra
|
GAD1 | Q99259 | CMTM5 | Homo sapiens | Q96DZ9-2 | 32296183 | |
|
Intra
|
GAD1 | Q99259 | CMTM5 | Homo sapiens | Q96DZ9-2 | 26871637 | |
|
Intra
|
GAD1 | Q99259 | CMTM5 | Homo sapiens | Q96DZ9-2 | 26871637 | |
|
Intra
|
GAD1 | Q99259 | CMTM5 | Homo sapiens | Q96DZ9-2 | 26871637 | |
|
Intra
|
GAD1 | Q99259 | AGTRAP | Homo sapiens | Q6RW13 | 25416956 | |
|
Intra
|
GAD1 | Q99259 | AGTRAP | Homo sapiens | Q6RW13 | 25416956 | |
|
Intra
|
GAD1 | Q99259 | AGTRAP | Homo sapiens | Q6RW13 | 25416956 | |
|
Intra
|
GAD1 | Q99259 | HAAO | Homo sapiens | P46952 | 31515488 | |
|
Intra
|
GAD1 | Q99259 | HAAO | Homo sapiens | P46952 | 25416956 | |
|
Intra
|
GAD1 | Q99259 | HAAO | Homo sapiens | P46952 | 16189514 | |
|
Intra
|
GAD1 | Q99259 | HAAO | Homo sapiens | P46952 | 25416956 | |
|
Intra
|
GAD1 | Q99259 | MAL2 | Homo sapiens | Q969L2 | 32296183 | |
|
Intra
|
GAD1 | Q99259 | MAL2 | Homo sapiens | Q969L2 | 32296183 | |
|
Intra
|
GAD1 | Q99259 | MAL2 | Homo sapiens | Q969L2 | 26871637 | |
|
Intra
|
GAD1 | Q99259 | MAL2 | Homo sapiens | Q969L2 | 26871637 | |
|
Intra
|
GAD1 | Q99259 | MAL2 | Homo sapiens | Q969L2 | 26871637 | |
|
Intra
|
GAD1 | Q99259 | STK3 | Homo sapiens | Q13188 | 25416956 | |
|
Intra
|
GAD1 | Q99259 | STK3 | Homo sapiens | Q13188 | 25416956 |
Recombinant GAD1 Proteins
| Referencia número | Nombre del producto | Accession | Pureza |
|---|---|---|---|
| HY-P75180 | GAD1/GAD67 Protein, Human (sf9, His) | Q99259-1 (M1-L594) | ≥ 90%, as determined by reducing SDS-PAGE. |
GAD1 Antibodies
| Referencia número | Nombre del producto | Aplicación | Reactivity |
|---|---|---|---|
| HY-P82062 | GAD67 Antibody (YA1807) | WB, IP | Human |
| HY-P82062A | GAD67 Antibody (YA1807)(PBS only) | WB, IP | Human |
| HY-P86884 | GAD67 Antibody (YA6577) | WB, IHC-P, IHC-F, IF-Tissue | Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Developmental And Epileptic Encephalopathy 89 |
|
|
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
|
| Inherited Congenital Spastic Tetraplegia |
|
|
| Stiff-Person Syndrome |
|
|
| Limbic Encephalitis |
|
|
| Type 1 Diabetes Mellitus |
|
|
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
|
| Diabetes Mellitus, Ketosis-Prone |
|
|
| Conversion Disorder |
|
|
| Temporal Lobe Epilepsy |
|
|
| Developmental And Epileptic Encephalopathy |
|
|
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
|
| Insulinoma |
|
|
| Prediabetes Syndrome |
|
|
| Bipolar Disorder |
|
|
| Monocarboxylate Transporter 1 Deficiency |
|
|
| Autoimmune Disease |
|
|
| Panic Disorder |
|
|
| Amnestic Disorder |
|
|
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
|
| Schizophrenia |
|
|
| Alcohol Dependence |
|
|
| Fragile X Syndrome |
|
|
| Rett Syndrome |
|
|
| Anxiety |
|
|
| Graves' Disease |
|
|
| Schizophrenia 16 |
|
|
| Cerebellar Disease |
|
|
| Epilepsy |
|
|
| Angelman Syndrome |
|
|
| Parkinsonism |
|
|
| Ocular Dominance |
|
|
| Cerebral Palsy |
|
|
| Major Depressive Disorder |
|
|
| Psychotic Disorder |
|
|
| Diabetes Mellitus |
|
|
| Autism |
|
|
| Maturity-Onset Diabetes Of The Young |
|
|
| Parkinson Disease, Late-Onset |
|
|
| Autism Spectrum Disorder |
|
|
| Mood Disorder |
|
|
| Articulation Disorder |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Hashimoto Thyroiditis |
|
|
| Hereditary Spastic Paraplegia 51 |
|
|
| Phobia, Specific |
|
|
| Diabetic Neuropathy |
|
|
| Pervasive Developmental Disorder |
|
|
| Stuttering |
|
|
| Disease Of Mental Health |
|
|
| Fetal Alcohol Spectrum Disorder |
|
|
| Speech Disorder |
|
|
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
|
| Mental Depression |
|
|
| Specific Developmental Disorder |
|
|
| Dravet Syndrome |
|
|
| Attention Deficit-Hyperactivity Disorder |
|
|
| Orofacial Cleft |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
| West Syndrome |
|
|
| Congenital Nervous System Abnormality |
|
|
| Nervous System Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | GAD1 | RGD | RGD:2652 |
| Mus musculus | GAD1 | MGD | MGI:95632 |
| Canis familiaris | GAD1 | VGNC | VGNC:41067 |
| Felis catus | GAD1 | VGNC | VGNC:62430 |
| Macaca mulatta | GAD1 | VGNC | VGNC:72862 |
| Bos taurus | GAD1 | VGNC | VGNC:29204 |
| Others | GAD1 | NCBI |