gabrb1

ID

ZDB-GENE-090313-230

Name

gamma-aminobutyric acid type A receptor subunit beta1

Symbol

gabrb1 Nomenclature History

Previous Names

si:dkey-20i10.4

Type

protein_coding_gene

Location

Chr: 13 Mapping Details/Browsers

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to enable GABA-A receptor activity. Predicted to contribute to chloride channel activity. Predicted to be involved in chloride transmembrane transport. Predicted to act upstream of or within chloride transport and monoatomic ion transmembrane transport. Predicted to be located in postsynaptic membrane. Predicted to be part of GABA-A receptor complex. Is expressed in central nervous system and eye. Human ortholog(s) of this gene implicated in autistic disorder and developmental and epileptic encephalopathy 45. Orthologous to human GABRB1 (gamma-aminobutyric acid type A receptor subunit beta1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

3 figures from 3 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With gabrb1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
developmental and epileptic encephalopathy 45	Alliance	Developmental and epileptic encephalopathy 45	617153

Associated With gabrb1 Via Experimental Models

No data available

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	IPR002289	Gamma-aminobutyric-acid A receptor, beta 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
Homologous_superfamily	IPR038050	Neuronal acetylcholine receptor