CHRM4 cholinergic receptor, muscarinic 4 [Homo sapiens] - Gene

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Summary

Official Symbol: CHRM4provided by HGNC
Official Full Name: cholinergic receptor, muscarinic 4provided by HGNC
Primary source: HGNC:1953
See related: Ensembl:ENSG00000180720; HPRD:00330; MIM:118495; Vega:OTTHUMG00000154371
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: HM4; M4R
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, mouse studies link its function to adenylyl cyclase inhibition. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 11p12-p11.2

Sequence :: Chromosome: 11; NC_000011.9 (46406640..46408107, complement)

See CHRM4 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 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?

Use of HM4- and green fluorescent protein-expressing trangenic mice as tissue donors in cell-based therapy validates a rodent model of Huntington disease.
Title: Validating the use of M4-BAC-GFP mice as tissue donors in cell replacement therapies in a rodent model of Huntington's disease.
analysis of allosteric agonism and modulation at the M4 muscarinic acetylcholine receptor
Title: Structural determinants of allosteric agonism and modulation at the M4 muscarinic acetylcholine receptor: identification of ligand-specific and global activation mechanisms.
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.
In progressive supranuclear palsy: there were no changes in M4 muscarinic receptor density
Title: Intact coupling of M1 receptors and preserved M2 and M4 receptors in the cortex in progressive supranuclear palsy: contrast with other dementias.
Regions in i3 including Leu272-Arg338 and Val373-Ala393 are involved in internalization of the M4 receptor; the region including Val373-Ala393 is indispensable for its recycling, whereas the other regions are dispensable for internalization and recycling.
Title: Muscarinic M4 receptor recycling requires a motif in the third intracellular loop.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetical genomic determinants of alcohol consumption in rats and humans.
relative to other muscarinic receptor subtypes, the M(4) receptor could be the subtype which is selectively compromised in Alzeheimer's disease
Title: Loss of muscarinic M4 receptors in hippocampus of Alzheimer patients.
M4 increases expression of "migratory" integrins; M4 effects resulted from inhibition of the inhibitory pathway involving the adenylyl cyclase-cyclic AMP-protein kinase A pathway
Title: Novel signaling pathways mediating reciprocal control of keratinocyte migration and wound epithelialization through M3 and M4 muscarinic receptors.

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_000732.2	NP_001949.1	EEF1A2	BIND	PubMed	The third intracellular loop of M4 interacts with eEf1A2.
NP_000732.2	NP_002077.1	GRB2	BIND	PubMed	M4 interacts with Grb2.
P08173	Q05639	EEF1A2	HPRD	PubMed
P08173	Q5JY77	GPRASP1	HPRD	PubMed
P08173	P62993	GRB2	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
guanyl-nucleotide exchange factor activity	IEA Inferred from Electronic Annotation more info
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
cell surface receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
inhibition of adenylate cyclase activity by G-protein coupled acetylcholine receptor signaling pathway	IEA Inferred from Electronic Annotation more info
response to organic substance	IEA Inferred from Electronic Annotation more info
signal transduction	TAS Traceable Author Statement more info	PubMed
synaptic transmission	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
asymmetric synapse	IEA Inferred from Electronic Annotation more info
axon terminus	IEA Inferred from Electronic Annotation more info
cell junction	IEA Inferred from Electronic Annotation more info
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
intracellular part	IEA Inferred from Electronic Annotation more info
membrane fraction	IEA Inferred from Electronic Annotation more info
neuronal cell body	IEA Inferred from Electronic Annotation more info
plasma membrane	TAS Traceable Author Statement more info
postsynaptic density	IEA Inferred from Electronic Annotation more info
postsynaptic membrane	IEA Inferred from Electronic Annotation more info
sarcolemma	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: muscarinic acetylcholine receptor M4

Names: muscarinic acetylcholine receptor M4; acetylcholine receptor, muscarinic 4

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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_000741.2 → NP_000732.2 muscarinic acetylcholine receptor M4

Status: REVIEWED

Source sequence(s)

AF498918, BQ322895

Consensus CDS

CCDS44581.1

UniProtKB/Swiss-Prot

P08173

Related

ENSP00000409378, OTTHUMP00000205575, ENST00000433765, OTTHUMT00000334985

Conserved Domains (1) summary

pfam00001
Location:55 – 240
Blast Score: 351

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_000011.9 Reference GRCh37.p5 Primary Assembly

Range

46406640..46408107, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

46113598..46115064, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC116021.5 (151599..153066)	None
genomic	CH471064.2	EAW68004.1
genomic	M16405.2	AAA51571.2
genomic	X15265.1	CAA33336.1
mRNA	AF385590.1	AAK68115.1
mRNA	AF498918.1	AAM18941.1
mRNA	BC095546.1	AAH95546.1
mRNA	BC119775.1	AAI19776.1
mRNA	BC119817.1	AAI19818.1
mRNA	BC137535.1	AAI37536.1
mRNA	BQ322895.1	None