Gene

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
Description
Predicted to contribute to GABA-A receptor activity and chloride channel activity. Predicted to be involved in several processes, including chemical synaptic transmission; chloride transmembrane transport; and regulation of membrane potential. Predicted to localize to several cellular components, including GABA-A receptor complex; integral component of plasma membrane; and neuron projection. Is expressed in brainstem and eye. Human ortholog(s) of this gene implicated in autistic disorder and early infantile epileptic encephalopathy 45. Orthologous to human GABRB1 (gamma-aminobutyric acid type A receptor subunit beta1).
Genome Resources
Note
None
Expression
All Expression Data
1 figure from Cocco et al., 2017
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
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
Domain Details Per Protein
Protein Length Gamma-aminobutyric-acid A receptor, beta 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:F1QPW7 484
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations