CHRM5 cholinergic receptor, muscarinic 5 [Homo sapiens] - Gene

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Summary

Official Symbol: CHRM5provided by HGNC
Official Full Name: cholinergic receptor, muscarinic 5provided by HGNC
Primary source: HGNC:1954
See related: Ensembl:ENSG00000184984; HPRD:00331; MIM:118496; Vega:OTTHUMG00000129369
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; MGC41838
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]

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Genomic context

Location :: 15q26

Sequence :: Chromosome: 15; NC_000015.9 (34261089..34357287)

See CHRM5 in Epigenomics, MapViewer

Chromosome 15 - NC_000015.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
P08912	Q5JY77	GPRASP1		HPRD	PubMed

Function	Evidence Code	Pubs
G-protein coupled acetylcholine receptor activity	IEA Inferred from Electronic Annotation more info
G-protein coupled receptor activity	IEA Inferred from Electronic Annotation more info
phosphatidylinositol phospholipase C activity	TAS Traceable Author Statement more info	PubMed
receptor activity	IEA Inferred from Electronic Annotation more info
signal transducer activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
G-protein coupled acetylcholine receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
cell proliferation	TAS Traceable Author Statement more info	PubMed
dopamine transport	IEA Inferred from Electronic Annotation more info
inhibition of adenylate cyclase activity by G-protein coupled acetylcholine receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
regulation of phosphatidylinositol dephosphorylation	IEA Inferred from Electronic Annotation more info
transmission of nerve impulse	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cell junction	IEA Inferred from Electronic Annotation more info
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
plasma membrane	TAS Traceable Author Statement more info
postsynaptic membrane	IEA Inferred from Electronic Annotation more info
synapse	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: muscarinic acetylcholine receptor M5

Names: muscarinic acetylcholine receptor M5; acetylcholine receptor, muscarinic 5

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NCBI Reference Sequences (RefSeq)

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_012125.3 → NP_036257.1 muscarinic acetylcholine receptor M5

Status: VALIDATED

Source sequence(s)

AC069045, AK095198, BC041805

Consensus CDS

CCDS10031.1

UniProtKB/Swiss-Prot

P08912

UniProtKB/TrEMBL

Q8IVW0

Related

ENSP00000372750, OTTHUMP00000159731, ENST00000383263, OTTHUMT00000251521

Conserved Domains (1) summary

pfam00001
Location:55 – 243
Blast Score: 415

7tm_1; 7 transmembrane receptor (rhodopsin family)

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000015.9 Reference GRCh37.p5 Primary Assembly

Range

34261089..34357287

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000147.1 Alternate HuRef

Range

11124408..11221244

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC009268.10	None
genomic	AC069045.11 (128622..135483)	None
genomic	CH471125.1	EAW92282.1
		EAW92283.1
genomic	M80333.1	AAA51569.1
mRNA	AB084282.1	BAB91222.1
mRNA	AF026263.1	AAB95158.1
mRNA	AF385591.1	AAK68116.1
mRNA	AF498919.1	AAM18942.1
mRNA	AK095198.1	None
mRNA	BC041805.1	AAH41805.1
mRNA	BC068528.1	AAH68528.1
other-genetic	EU832806.1	ACE87817.1
other-genetic	GQ129426.1	ACT64560.1
other-genetic	JF432772.1	ADZ15989.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P08912.2	GenPept	UniProtKB/Swiss-Prot:P08912
Q6NUM3	GenPept	UniProtKB/TrEMBL:Q6NUM3
Q8IVW0	GenPept	UniProtKB/TrEMBL:Q8IVW0