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
- Contributes to GABA-gated chloride ion channel activity. Involved in larval locomotory behavior. Acts upstream of or within protein heterotrimerization. Predicted to be located in postsynaptic membrane. Predicted to be integral component of membrane. Predicted to be part of GABA-A receptor complex. Is expressed in nervous system. Used to study epilepsy with generalized tonic-clonic seizures. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 19 and idiopathic generalized epilepsy 13. Orthologous to human GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 16 figures from 10 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 |
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 |
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 | 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:F1R2E6
|
174 | |||||||||
UniProtKB:Q08BJ3
|
459 | |||||||||
UniProtKB:C5IG43
|
287 |
Type | Name | Length (nt) | Analysis |
---|---|---|---|
mRNA |
gabra1-202
(1)
|
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