CHRM5 cholinergic receptor muscarinic 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CHRM5provided by HGNC
Official Full Name: cholinergic receptor muscarinic 5provided by HGNC
Primary source: HGNC:HGNC:1954
See related: Ensembl:ENSG00000184984 MIM:118496; AllianceGenome:HGNC:1954
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HM5
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 clinical implications of this receptor are unknown; however, stimulation of this receptor is known to increase cyclic AMP levels. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 15q14

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (33968497..34067458)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (31766653..31865649)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (34260698..34359659)

Chromosome 15 - NC_000015.10 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
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?

Cigarette smoking may contribute to this imbalance by affecting the polarization and survival of Th/Tregs through the up-regulation of MR3 and MR5.
Title: Cigarette smoking promotes inflammation in patients with COPD by affecting the polarization and survival of Th/Tregs through up-regulation of muscarinic receptor 3 and 5 expression.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.
Observational study of gene-disease association. (HuGE Navigator)
Title: A pilot multivariate parallel ICA study to investigate differential linkage between neural networks and genetic profiles in schizophrenia.
the M(3)/M(5) subtypes appear to be the major contributor, leading to intracellular calcium mobilization from the internal store via an IP(3)-dependent pathway in the undifferentiated retinoblastoma cells.
Title: Calcium mobilization by activation of M(3)/M(5) muscarinic receptors in the human retinoblastoma.
the first study to show an association between CHRM5 and substance use in humans
Title: Variation in the gene coding for the M5 muscarinic receptor (CHRM5) influences cigarette dose but is not associated with dependence to drugs of addiction: evidence from a prospective population based cohort study of young adults.
mAChR subtypes (m1 to m5)presents in human scleral fibroblasts at both mRNA and protein levels.
Title: The presence of m1 to m5 receptors in human sclera: evidence of the sclera as a potential site of action for muscarinic receptor antagonists.
direct evidence suggesting that the M5 muscarinic receptor gene combined with the alpha7-nicotinic receptor gene may be linked to schizophrenia
Title: Linkage of M5 muscarinic and alpha7-nicotinic receptor genes on 15q13 to schizophrenia.
Immunological stimulation leads to M5 mAChR gene expression in lymphocytes.
Title: Upregulation of mRNA encoding the M5 muscarinic acetylcholine receptor in human T- and B-lymphocytes during immunological responses.

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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

D15S1263 (e-PCR)
- UniSTS:14435

CHRM5_s11 (e-PCR)
- UniSTS:510362

WI-15231 (e-PCR)
- UniSTS:40643

RH102644 (e-PCR)
- UniSTS:96978

RH69182 (e-PCR)
- UniSTS:49621

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 G protein-coupled serotonin 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, 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 dopamine transport	IEA Inferred from Electronic Annotation more info
involved_in gastric acid secretion	IEA Inferred from Electronic Annotation more info
involved_in regulation of phosphatidylinositol dephosphorylation	IEA Inferred from Electronic Annotation more info
involved_in transmission of nerve impulse	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
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 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 M5

Names: acetylcholine receptor, muscarinic 5

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_001320917.2 → NP_001307846.1 muscarinic acetylcholine receptor M5

Status: VALIDATED

Source sequence(s)

AC009268, AC069045, BX102692

Consensus CDS

CCDS10031.1

UniProtKB/Swiss-Prot

P08912, Q96RG7

UniProtKB/TrEMBL

Q6NUM3, Q8IVW0

Related

ENSP00000453745.1, ENST00000557872.1

Conserved Domains (2) summary

pfam00001
Location:47 → 225

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:40 → 167

7tm_4; Olfactory receptor
NM_012125.4 → NP_036257.1 muscarinic acetylcholine receptor M5

See identical proteins and their annotated locations for NP_036257.1

Status: VALIDATED

Source sequence(s)

AC009268, AC069045, AK095198, BC041805

Consensus CDS

CCDS10031.1

UniProtKB/Swiss-Prot

P08912, Q96RG7

UniProtKB/TrEMBL

Q6NUM3, Q8IVW0

Related

ENSP00000372750.5, ENST00000383263.7

Conserved Domains (2) summary

pfam00001
Location:47 → 225

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:40 → 167

7tm_4; Olfactory receptor