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

    Gene ID: 1133, updated on 28-Oct-2024

    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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (33968497..34067458)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (31766653..31865649)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (34260698..34359659)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:33603389-33603900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:33603901-33604410 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6271 Neighboring gene NANOG hESC enhancer GRCh37_chr15:33620309-33620820 Neighboring gene RYR3 divergent transcript Neighboring gene ryanodine receptor 3 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:33837506-33838705 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:33851407-33852197 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr15:33904937-33905438 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:33924098-33924317 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:34012814-34014013 Neighboring gene NANOG hESC enhancer GRCh37_chr15:34030252-34030792 Neighboring gene complement C1q binding protein pseudogene 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:34050593-34051255 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_39317 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:34145183-34146382 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:34150522-34151721 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9171 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9172 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:34208100-34208650 Neighboring gene apoptosis and caspase activation inhibitor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6272 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 ATAC-STARR-seq lymphoblastoid silent region 6273 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6276 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6275 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6274 Neighboring gene MPRA-validated peak2290 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:34393207-34394064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9174 Neighboring gene ribosomal protein L32 pseudogene 2 Neighboring gene piggyBac transposable element derived 4 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 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. 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
    2. 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
    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. Linkage of M5 muscarinic and alpha7-nicotinic receptor genes on 15q13 to schizophrenia. De Luca V, et al. Neuropsychobiology, 2004. PMID 15292665

    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
    		  
    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)

    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
      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

    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
      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

    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

    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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