CHRM1 Gene - Cholinergic Receptor Muscarinic 1
Comprehensive genomic and functional analysis of the CHRM1 gene encoding the M1 muscarinic acetylcholine receptor
Gene Information Card
| Symbol | CHRM1 |
|---|---|
| Full Name | Cholinergic Receptor Muscarinic 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q12.3 |
| NCBI Gene ID | 1128 ncbi.nlm.nih.gov/gene/1128 |
| Ensembl ID | ENSG00000168539 |
| UniProt ID | P11229 |
| OMIM ID | 118510 |
| HGNC ID | 1950 |
| Aliases | M1, HM1, M1R, cholinergic receptor, muscarinic 1 |
Description
The CHRM1 gene encodes the M1 muscarinic acetylcholine receptor, a G protein-coupled receptor (GPCR) that mediates slow excitatory postsynaptic potentials in the central nervous system. It is primarily expressed in the cortex, hippocampus, and striatum, and plays a critical role in cognitive functions such as learning and memory. CHRM1 is a target for therapeutic interventions in Alzheimer disease and schizophrenia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | Reduced CHRM1 expression and function impair cholinergic signaling, contributing to cognitive decline. | ClinVar, NCBI Gene |
| Schizophrenia | Altered CHRM1 signaling is implicated in cognitive deficits and negative symptoms. | OMIM, NCBI Gene |
| Major depressive disorder | Dysregulation of muscarinic receptors, including CHRM1, is associated with mood disorders. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebral cortex | 12.5 | High |
| Hippocampus | 10.8 | High |
| Striatum | 9.2 | High |
| Cerebellum | 2.1 | Low |
| Heart | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.3 | Neuroblastoma cell line; high expression |
| HEK293 | 0.2 | Low endogenous expression |
| U-87 MG | 1.1 | Glioblastoma cell line; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | Rare | Altered ligand binding affinity; reported in ClinVar |
| c.124G>A (p.Gly42Ser) | Missense | Rare | Potential loss of function; observed in neuropsychiatric cohorts |
| c.782G>A (p.Arg261His) | Missense | Rare | Reduced receptor activation; associated with cognitive impairment |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Gly42Ser and p.Arg261His reduce receptor signaling and are classified as loss-of-function.
Gain of Function (GOF)
No confirmed gain-of-function mutations have been reported for CHRM1.
Dominant Negative (DN)
No dominant-negative mutations have been described for CHRM1.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • acetylcholine binding |
| • muscarinic acetylcholine receptor activity | • plasma membrane |
| • synaptic transmission | • cholinergic |
| • calcium-mediated signaling | • adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway |
Pathways
• Muscarinic acetylcholine receptor 1 and 3 signaling pathway
• GPCR downstream signaling
• Calcium signaling pathway
• cAMP signaling pathway
• Alzheimer disease
Protein Summary
The M1 muscarinic acetylcholine receptor (UniProt P11229) is a 460-amino acid GPCR with seven transmembrane domains. It couples primarily to Gq/11 proteins, activating phospholipase C and increasing intracellular calcium. The receptor is N-glycosylated and palmitoylated, and its activation modulates neuronal excitability, synaptic plasticity, and neurotransmitter release. CHRM1 is a key drug target for cognitive enhancement in Alzheimer disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHRM1 Knockout HEK293 Cell Line | EDJ-KQ767 | Human | 1128 | Details Get a Quote |
| CHRM1 Knockout HeLa Cell Line | EDJ-KQ52895 | Human | 1128 | Details Get a Quote |
| CHRM1 Knockout A-549 Cell Line | EDJ-KQ61364 | Human | 1128 | Details Get a Quote |
| CHRM1 Knockout HCT 116 Cell Line | EDJ-KQ69860 | Human | 1128 | Details Get a Quote |
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