Gene
chrnb1l
- ID
- ZDB-GENE-060811-1
- Name
- cholinergic receptor, nicotinic, beta 1 (muscle) like
- Symbol
- chrnb1l Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Contributes to acetylcholine receptor activity. Predicted to be involved in several processes, including chemical synaptic transmission; monoatomic ion transmembrane transport; and regulation of membrane potential. Predicted to act upstream of or within monoatomic ion transport. Part of acetylcholine-gated channel complex. Is expressed in musculature system and skeletal muscle. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 2A and congenital myasthenic syndrome 2C. Orthologous to human CHRNB1 (cholinergic receptor nicotinic beta 1 subunit).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 4 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
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:E7F2Q4
|
486 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
chrnb1l-201
(1)
|
Ensembl | 1,461 nt | ||
mRNA |
chrnb1l-202
(1)
|
Ensembl | 3,131 nt |
Interactions and Pathways
No data available
Plasmids
No data available