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

Gene ID: 1133, updated on 29-Mar-2023

Summary

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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
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Genomic context

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See CHRM5 in Genome Data Viewer
Location:
15q14
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (33968497..34067458)
RS_2023_03 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_000015.10Genomic Context describing neighboring genes Neighboring gene ryanodine receptor 3 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:34150522-34151721 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:34208100-34208650 Neighboring gene apoptosis and caspase activation inhibitor Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:34277417-34277940 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:34280047-34280546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:34314668-34315168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:34315169-34315669 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:34393207-34394064 Neighboring gene ribosomal protein L32 pseudogene 2 Neighboring gene ER membrane protein complex subunit 7

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. 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. Anney RJ, et al. BMC Genet, 2007 Jul 3. PMID 17608938, Free PMC Article
  2. Upregulation of mRNA encoding the M5 muscarinic acetylcholine receptor in human T- and B-lymphocytes during immunological responses. Fujii T, et al. Neurochem Res, 2003 Apr. PMID 12675126
  3. The second intracellular loop of the m5 muscarinic receptor is the switch which enables G-protein coupling. Burstein ES, et al. J Biol Chem, 1998 Sep 18. PMID 9733718
  4. Identification and molecular characterization of a m5 muscarinic receptor in A2058 human melanoma cells. Coupling to inhibition of adenylyl cyclase and stimulation of phospholipase A2. Kohn EC, et al. J Biol Chem, 1996 Jul 19. PMID 8663391
  5. 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. Zhang MQ, et al. PLoS One, 2014. PMID 25375131, Free PMC Article

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction

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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC41838

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
 PubMed 
enables G protein-coupled serotonin receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
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
 PubMed 
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
 PubMed 
involved_in chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
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
 PubMed 
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
 PubMed 

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)

  1. 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
    A0A024R9I2
    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

  2. 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
    A0A024R9I2, 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    33968497..34067458
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    31766653..31865649
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P08912.2 GenPept UniProtKB/Swiss-Prot:P08912

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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