CHRM1 cholinergic receptor muscarinic 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CHRM1provided by HGNC
Official Full Name: cholinergic receptor muscarinic 1provided by HGNC
Primary source: HGNC:HGNC:1950
See related: Ensembl:ENSG00000168539 MIM:118510; AllianceGenome:HGNC:1950
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: M1; HM1; M1R
Summary: The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 1 is involved in mediation of vagally-induced bronchoconstriction and in the acid secretion of the gastrointestinal tract. The gene encoding this receptor is localized to 11q13. [provided by RefSeq, Jul 2008]
Expression: Biased expression in prostate (RPKM 24.3), brain (RPKM 18.2) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q12.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (62908679..62921878, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (62898039..62911241, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (62676151..62688835, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of Cholinergic Receptor Muscarinic 1 (CHRM1) Protein in the Hippocampus and Temporal Cortex of a Subset of Individuals with Alzheimer's Disease, Parkinson's Disease, or Frontotemporal Dementia: Implications for Patient Survival.
Title: Loss of Cholinergic Receptor Muscarinic 1 (CHRM1) Protein in the Hippocampus and Temporal Cortex of a Subset of Individuals with Alzheimer's Disease, Parkinson's Disease, or Frontotemporal Dementia: Implications for Patient Survival.
Muscarinic acetylcholine receptor M1 mutations causing neurodevelopmental disorder and epilepsy.
Title: Muscarinic acetylcholine receptor M1 mutations causing neurodevelopmental disorder and epilepsy.
Muscarinic Receptors Expression in the Peripheral Blood Cells Differentiate Dementia with Lewy Bodies from Alzheimer's Disease.
Title: Muscarinic Receptors Expression in the Peripheral Blood Cells Differentiate Dementia with Lewy Bodies from Alzheimer's Disease.
Contributions of cholinergic receptor muscarinic 1 and CYP1A2 gene variants on the effects of plasma ratio of clozapine/N-desmethylclozapine on working memory in schizophrenia.
Title: Contributions of cholinergic receptor muscarinic 1 and CYP1A2 gene variants on the effects of plasma ratio of clozapine/N-desmethylclozapine on working memory in schizophrenia.
Activation of muscarinic acetylcholine receptor 1 promotes invasion of hepatocellular carcinoma by inducing epithelial-mesenchymal transition.
Title: Activation of muscarinic acetylcholine receptor 1 promotes invasion of hepatocellular carcinoma by inducing epithelial-mesenchymal transition.
Muscarinic receptors promote castration-resistant growth of prostate cancer through a FAK-YAP signaling axis.
Title: Muscarinic receptors promote castration-resistant growth of prostate cancer through a FAK-YAP signaling axis.
Pharmacogenetics of tardive dyskinesia in schizophrenia: The role of CHRM1 and CHRM2 muscarinic receptors.
Title: Pharmacogenetics of tardive dyskinesia in schizophrenia: The role of CHRM1 and CHRM2 muscarinic receptors.
the selective CHRM1 antagonist pirenzepine inhibited PC-3, LNCaP, and A549 cell migration and invasion, but the agonist carbachol promoted the migration and invasion of these three cell lines
Title: Muscarinic acetylcholine receptor M1 mediates prostate cancer cell migration and invasion through hedgehog signaling.
The study was focused on the human mAChR1 receptor for which a presumably reliable model was generated using the congener mAChR3 as the template along with a second less reliable model based on the distant beta2-AR template. The second model was then utilized to produce the chimeras by combining the conformations of its Pro-containing helices (i.e., TM4, TM5, TM6 and TM7 with 16 modeled chimeras).
Title: Enhancing the Reliability of GPCR Models by Accounting for Flexibility of Their Pro-Containing Helices: the Case of the Human mAChR1 Receptor.
he discovery of a receptor homolog of human mAChR1 on Acanthamoeba with future studies planned to show its expression and binding to cholinergic agonist and antagonist would help clarify its role in the biology of this protist pathogen.
Title: Evidence of a M(1)-muscarinic GPCR homolog in unicellular eukaryotes: featuring Acanthamoeba spp bioinformatics 3D-modelling and experimentations.

Submit: New GeneRIF Correction See all GeneRIFs (79)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

CHRM1 (e-PCR)
- UniSTS:253963

PMC65026P1 (e-PCR)
- UniSTS:273430

GDB:197880 (e-PCR)
- UniSTS:155985

CHRM1 (e-PCR)
- UniSTS:72656

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled acetylcholine receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol phospholipase C activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled acetylcholine receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	IBA Inferred from Biological aspect of Ancestor more info
involved_in G protein-coupled serotonin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in cognition	IEA Inferred from Electronic Annotation more info
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in neuromuscular synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of intracellular protein transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of monoatomic ion transport	IGI Inferred from Genetic Interaction more info	PubMed
involved_in postsynaptic modulation of chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in regulation of glial cell proliferation	TAS Traceable Author Statement more info	PubMed
involved_in regulation of locomotion	IEA Inferred from Electronic Annotation more info
involved_in regulation of postsynaptic membrane potential	IEA Inferred from Electronic Annotation more info
involved_in saliva secretion	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Schaffer collateral - CA1 synapse	IEA Inferred from Electronic Annotation more info
located_in axon terminus	IEA Inferred from Electronic Annotation more info
located_in cholinergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic density membrane	IEA Inferred from Electronic Annotation more info
located_in presynaptic membrane	IEA Inferred from Electronic Annotation more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: muscarinic acetylcholine receptor M1

Names: acetylcholine receptor, muscarinic 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_000738.3 → NP_000729.2 muscarinic acetylcholine receptor M1

See identical proteins and their annotated locations for NP_000729.2

Status: REVIEWED

Source sequence(s)

BC022984

Consensus CDS

CCDS8040.1

UniProtKB/Swiss-Prot

P11229, Q96RH1

UniProtKB/TrEMBL

Q53XZ3

Related

ENSP00000306490.3, ENST00000306960.4

Conserved Domains (1) summary

cd17790
Location:26 → 429

7tmA_mAChR_M1; muscarinic acetylcholine receptor subtype M1, member of the class A family of seven-transmembrane G protein-coupled receptors

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

62908679..62921878 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011544742.3 → XP_011543044.1 muscarinic acetylcholine receptor M1 isoform X1

See identical proteins and their annotated locations for XP_011543044.1

UniProtKB/Swiss-Prot

P11229, Q96RH1

UniProtKB/TrEMBL

Q53XZ3

Conserved Domains (1) summary

cd17790
Location:26 → 429

7tmA_mAChR_M1; muscarinic acetylcholine receptor subtype M1, member of the class A family of seven-transmembrane G protein-coupled receptors