Chrnb1 Gene Summary [Mouse]
Enables acetylcholine binding activity. Contributes to acetylcholine-gated monoatomic cation-selective channel activity. Acts upstream of or within regulation of membrane potential. Located in plasma membrane. Part of acetylcholine-gated channel complex. Is active in neuromuscular junction and postsynaptic specialization membrane. Is expressed in several structures, including forelimb bud; limb segment; lung; paraxial mesenchyme; and skeletal musculature. 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). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Chrnb1 |
| Official Name | cholinergic receptor, nicotinic, beta polypeptide 1 (muscle) [Source:MGI Symbol;Acc:MGI:87890] |
| Ensembl ID | ENSMUSG00000041189 |
| Bio databases IDs | |
| Aliases | cholinergic receptor, nicotinic, beta polypeptide 1 (muscle) |
| Synonyms | Achr-2, ACHRB, AChR beta, AChR β, Acrb, cholinergic receptor nicotinic beta 1 subunit, cholinergic receptor nicotinic β 1 subunit, CHRNB, CMS1D, CMS2A, CMS2C, nAChR, RNACRB1, SCCMS |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Chrnb1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- excitatory extracellular ligand-gated ion channel
- channel/pore class transporter
- extracellular ligand-gated ion channel
- Cation transporter family protein
- protein binding
- pore domain
- acetylcholine receptor
- neurotransmitter receptor
- LGIC_ECD
- Neurotransmitter-gated ion-channel transmembrane region
- Neurotransmitter-gated ion-channel ligand binding domain
- ligand-gated ion channel
- acetylcholine binding
- transmembrane receptor
- agonist binding domain
- cation channel
Pathways
Biological processes and signaling networks where the Chrnb1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- renal failure
- fatigue
- insomnia
- nicotine dependence
- respiratory failure
- slow-channel congenital myasthenic syndrome type 2a
- nicotine withdrawal syndrome
- pelvic pain
- congenital myasthenic syndrome associated with acetylcholine receptor deficiency type 2C
- Alzheimer disease
regulates
- nicotinic acetylcholine receptor
- CHRNB1
- cation
role in cell
- morphology
- development
- organization
- gating in
- synaptic transmission
- transmembrane potential
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cellular membrane
- synaptic membrane
- neuromuscular junctions
- synapse
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Chrnb1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- synaptic transmission, cholinergic
- regulation of excitatory postsynaptic membrane potential
- behavioral response to nicotine
- neuromuscular synaptic transmission
- signal transduction
- ion transmembrane transport
- muscle cell development
- synaptic transmission
- regulation of membrane potential
- cation transport
- postsynaptic membrane organization
- muscle contraction
- membrane depolarization
- neurological system process
Cellular Component
Where in the cell the gene product is active
- neuromuscular junction
- synapse
- acetylcholine-gated channel complex
- neuron projection
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- channel activity
- protein binding
- acetylcholine receptor activity
- ligand-gated ion channel activity
- acetylcholine-gated cation channel activity
- acetylcholine binding