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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

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

Human Disease	Fish	Conditions	Citations
epilepsy with generalized tonic-clonic seizures	gabra1^{udm103/udm103}	standard conditions	Samarut et al., 2018

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 InterPro	174
UniProtKB:Q08BJ3 InterPro	459
UniProtKB:C5IG43 InterPro	287

Transcripts

Genome Browsers

Type	Name	Length (nt)	Analysis
mRNA	gabra1-202 (1) Ensembl	1077 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	gabra1a-201 (1)	1417 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-gabra1	polyclonal	gabra1	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