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
Expression
All Expression Data
16 figures from 10 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
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:F1R2E6 174
UniProtKB:Q08BJ3 459
UniProtKB:C5IG43 287
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
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations