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 protein heterotrimerization. Predicted to localize to several cellular components, including GABA-A receptor complex; dendrite membrane; and postsynapse. Is expressed in nervous system. 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. Orthologous to human GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1).
Genome Resources
Note
None
Expression
All Expression Data
15 figures from 9 publications
Cross-Species Comparison
High Throughput Data
No data available
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
11 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With gabra1 Human Ortholog
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
Associated With gabra1 Via Experimental Models
Gene Ontology
Protein Domains
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:C5IG43 287
UniProtKB:F1R2E6 174
UniProtKB:Q08BJ3 459
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-gabra1 polyclonal IgG Goat
  • IHC
  • WB
Santa Cruz Biotechnology, Inc.
2
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations