CHRNB1
Cholinergic Receptor Nicotinic Beta 1 Subunit
Gene Information Card
| Symbol | CHRNB1 |
|---|---|
| Full Name | Cholinergic Receptor Nicotinic Beta 1 Subunit |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 1140 ncbi.nlm.nih.gov/gene/1140 |
| Ensembl ID | ENSG00000170175 |
| UniProt ID | P11230 |
| OMIM ID | 100710 |
| HGNC ID | 1961 |
| Aliases | ACHRB, CHRNB, CMS2A, CMS2C, SCCMS |
Description
CHRNB1 (cholinergic receptor nicotinic beta 1 subunit) encodes the beta subunit of the muscle-type nicotinic acetylcholine receptor (nAChR), a pentameric ligand-gated ion channel expressed at the neuromuscular junction. This subunit is essential for receptor assembly and function. Mutations in CHRNB1 are associated with congenital myasthenic syndromes (CMS), including slow-channel and fast-channel syndromes, and with a rare form of autosomal dominant nocturnal frontal lobe epilepsy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital Myasthenic Syndrome 2A (slow-channel) | Missense mutations in the transmembrane domain prolong channel open time, causing calcium overload and endplate degeneration. | ClinVar, OMIM #616313 |
| Congenital Myasthenic Syndrome 2C (fast-channel) | Mutations reduce acetylcholine affinity or channel opening probability, leading to reduced synaptic response. | ClinVar, OMIM #616323 |
| Myasthenic Syndrome, Congenital, 2B (with tubular aggregates) | Specific missense variants impair receptor clustering and cause structural abnormalities at the neuromuscular junction. | OMIM #616324 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 28.5 | High |
| Heart | 2.1 | Low |
| Brain | 0.8 | Low |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| RH-30 (rhabdomyosarcoma) | 15.3 | Moderate |
| HSMM (skeletal muscle myoblasts) | 22.7 | High |
| SH-SY5Y (neuroblastoma) | 0.5 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.121C>T (p.Arg41Trp) | Missense | <0.01% | Slow-channel CMS; gain-of-function |
| c.820G>A (p.Glu274Lys) | Missense | <0.01% | Fast-channel CMS; loss-of-function |
| c.1327G>A (p.Val443Met) | Missense | <0.01% | Slow-channel CMS; gain-of-function |
Mutation functional classification
Loss of Function (LOF)
Fast-channel CMS variants (e.g., p.Glu274Lys) reduce acetylcholine binding affinity or channel opening, decreasing synaptic response.
Gain of Function (GOF)
Slow-channel CMS variants (e.g., p.Arg41Trp, p.Val443Met) prolong channel open time, causing excitotoxicity and endplate degeneration.
Dominant Negative (DN)
Some missense mutations in the extracellular domain impair receptor assembly, reducing surface expression of functional pentamers.
View complete mutation data：
Gene Ontology (GO)
| • acetylcholine-gated monoatomic cation-selective channel activity (GO:0022848) | • acetylcholine receptor activity (GO:0015464) |
| • ion channel activity (GO:0005216) | • plasma membrane (GO:0005886) |
| • postsynaptic membrane (GO:0045211) | • neuromuscular junction (GO:0031594) |
| • chemical synaptic transmission (GO:0007268) |
Pathways
• Nicotinic acetylcholine receptor signaling (Reactome: R-HSA-622327)
• Neurotransmitter receptor binding and downstream transmission (Reactome: R-HSA-112314)
• Acetylcholine binding and channel opening (KEGG: hsa04725)
Protein Summary
The CHRNB1 protein (UniProt P11230) is a 501-amino acid transmembrane subunit of the muscle nicotinic acetylcholine receptor. It contains an extracellular N-terminal domain, four transmembrane helices (M1-M4), and a large intracellular loop between M3 and M4. The beta subunit contributes to the acetylcholine-binding site at the interface with alpha subunits and is critical for channel gating. Post-translational modifications include N-glycosylation and phosphorylation, which modulate receptor trafficking and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHRNB1 Knockout HEK293 Cell Line | EDJ-KQ4280 | Human | 1140 | Details Get a Quote |
| CHRNB1 Knockout HCT 116 Cell Line | EDJ-KQ25461 | Human | 1140 | Details Get a Quote |
| CHRNB1 Knockout A-549 Cell Line | EDJ-KQ26762 | Human | 1140 | Details Get a Quote |
| CHRNB1 Knockout HeLa Cell Line | EDJ-KQ26764 | Human | 1140 | Details Get a Quote |
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