Gene
chrnb1
- ID
- ZDB-GENE-070821-4
- Name
- cholinergic receptor, nicotinic, beta 1 (muscle)
- Symbol
- chrnb1 Nomenclature History
- Previous Names
-
- AChR beta1b (1)
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Contributes to acetylcholine receptor activity. Involved in cholinergic synaptic transmission. Localizes to acetylcholine-gated channel complex. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 2A and congenital myasthenic syndrome 2C. Is expressed in skeletal muscle. Orthologous to human CHRNB1 (cholinergic receptor nicotinic beta 1 subunit).
- 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 |
|---|---|---|---|
| congenital myasthenic syndrome 2A | Alliance | Myasthenic syndrome, congenital, 2A, slow-channel | 616313 |
| congenital myasthenic syndrome 2C | Alliance | ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency | 616314 |
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 | IPR002394 | Nicotinic acetylcholine receptor |
| 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 | 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 | Nicotinic acetylcholine receptor |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:G1FMP8
|
492 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
chrnb1-201
(1)
|
Ensembl | 4,412 nt | ||
| ncRNA |
chrnb1-002
(1)
|
Ensembl | 990 nt |
Interactions and Pathways
No data available
Plasmids
No data available