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 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
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental and epileptic encephalopathy 45 | Alliance | Developmental and epileptic encephalopathy 45 | 617153 |
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 |
Domain Details Per Protein
| Protein | Length | Gamma-aminobutyric-acid A receptor, beta subunit | Gamma-aminobutyric acid A receptor/Glycine receptor alpha | 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:A0A8M9QFU1
|
354 | |||||||||
|
UniProtKB:F1QPW7
|
484 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
gabrb1-201
(1)
|
Ensembl | 6,580 nt |
Interactions and Pathways
No data available
Plasmids
No data available