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 part of GABA-A receptor complex. Predicted to be active in 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 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
22 figures from 16 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
Allele Type Localization Consequence Mutagen Supplier
la022038TgTransgenic insertionUnknownUnknownDNA
s3014Allele with one delinsUnknownUnknownCRISPR
sa43718Allele with one point mutationUnknownPremature StopENU
udm103Allele with one delinsUnknownUnknownCRISPR
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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
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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
Domain IPR047024 Gamma-aminobutyric acid receptor subunit alpha 1-6, transmembrane domain
Domain IPR047079 Gamma-aminobutyric acid receptor subunit alpha-1, extracellular domain
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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
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 21
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA gabra1-201 (1) Ensembl 1,417 nt
mRNA gabra1-202 (1) Ensembl 1,077 nt
mRNA gabra1-203 (1) Ensembl 2,305 nt
mRNA gabra1a-201 (1) 1,417 nt
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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
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Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH211-145N14ZFIN Curated Data
EncodescDNAMGC:153566ZFIN Curated Data
EncodescDNAMGC:191715ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanGABRA15
Phylogenetic tree (2)
Amino acid sequence comparison (4)
Functional complementation (1)
Conserved genome location (synteny) (1)
MouseGabra111
Phylogenetic tree (2)
Amino acid sequence comparison (3)
Citations
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