Gene
gabra1
- ID
- ZDB-GENE-061013-194
- Name
- gamma-aminobutyric acid type A receptor subunit alpha1
- Symbol
- gabra1 Nomenclature History
- Previous Names
-
- zgc:153566 (1)
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to contribute to GABA-A receptor activity; benzodiazepine receptor activity; and chloride channel activity. Predicted to be involved in several processes, including GABAergic synaptic transmission; chloride transmembrane transport; and gamma-aminobutyric acid signaling pathway. Predicted to localize to several cellular components, including GABA-A receptor complex; dendrite membrane; and postsynapse. Used to study epilepsy with generalized tonic-clonic seizures. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy 19 and idiopathic generalized epilepsy 13. Is expressed in nervous system. Orthologous to human GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 20 figures from 14 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 11 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental and epileptic encephalopathy 19 | Alliance | Developmental and epileptic encephalopathy 19 | 615744 |
| idiopathic generalized epilepsy 13 | Alliance | {Epilepsy, childhood absence, susceptibility to, 4} | 611136 |
| idiopathic generalized epilepsy 13 | Alliance | {Epilepsy, juvenile myoclonic, susceptibility to, 5} | 611136 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| epilepsy with generalized tonic-clonic seizures | gabra1udm103/udm103 | standard conditions | Samarut et al., 2018 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018000 | Neurotransmitter-gated ion-channel, conserved site |
| Domain | IPR006029 | Neurotransmitter-gated ion-channel transmembrane domain |
| Domain | IPR006202 | Neurotransmitter-gated ion-channel ligand-binding domain |
| Domain | IPR047024 | Gamma-aminobutyric acid receptor subunit alpha 1-6, transmembrane domain |
| Domain | IPR047079 | Gamma-aminobutyric acid receptor subunit alpha-1, extracellular domain |
| Family | IPR001390 | Gamma-aminobutyric-acid A receptor, alpha subunit |
| Family | IPR005431 | Gamma-aminobutyric-acid A receptor, alpha 1 subunit |
| Family | IPR006028 | Gamma-aminobutyric acid A receptor/Glycine receptor alpha |
| Family | IPR006201 | Neurotransmitter-gated ion-channel |
| Homologous_superfamily | IPR036719 | Neurotransmitter-gated ion-channel transmembrane domain superfamily |
| Homologous_superfamily | IPR036734 | Neurotransmitter-gated ion-channel ligand-binding domain superfamily |
| Homologous_superfamily | IPR038050 | Neuronal acetylcholine receptor |
Domain Details Per Protein
| Protein | Length | Gamma-aminobutyric-acid A receptor, alpha 1 subunit | Gamma-aminobutyric-acid A receptor, alpha subunit | Gamma-aminobutyric acid A receptor/Glycine receptor alpha | Gamma-aminobutyric acid receptor subunit alpha 1-6, transmembrane domain | Gamma-aminobutyric acid receptor subunit alpha-1, extracellular domain | Neuronal acetylcholine receptor | Neurotransmitter-gated ion-channel | Neurotransmitter-gated ion-channel, conserved site | Neurotransmitter-gated ion-channel ligand-binding domain | Neurotransmitter-gated ion-channel ligand-binding domain superfamily | Neurotransmitter-gated ion-channel transmembrane domain | Neurotransmitter-gated ion-channel transmembrane domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M3ALU6
|
470 | ||||||||||||
|
UniProtKB:Q08BJ3
|
459 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
gabra1-202
(1)
|
Havana | 1077 nt | |
| mRNA | gabra1a-201 (1) | 1417 nt |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-gabra1 | polyclonal | IgG | Goat |
|
Santa Cruz Biotechnology, Inc.
|
2 |
Plasmids
No data available