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CHRM3 cholinergic receptor muscarinic 3 [ Homo sapiens (human) ]

Gene ID: 1131, updated on 13-Jun-2021

Summary

Official Symbol
CHRM3provided by HGNC
Official Full Name
cholinergic receptor muscarinic 3provided by HGNC
Primary source
HGNC:HGNC:1952
See related
Ensembl:ENSG00000133019 MIM:118494
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
HM3; PBS; EGBRS
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 muscarinic cholinergic receptor 3 controls smooth muscle contraction and its stimulation causes secretion of glandular tissue. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]
Expression
Biased expression in brain (RPKM 5.0), salivary gland (RPKM 2.4) and 12 other tissues See more
Orthologs
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Genomic context

See CHRM3 in Genome Data Viewer
Location:
1q43
Exon count:
17
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (239386565..239915450)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (239549868..240078750)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L39 pseudogene 10 Neighboring gene uncharacterized LOC105373223 Neighboring gene uncharacterized LOC105373225 Neighboring gene CHRM3 antisense RNA 2 Neighboring gene uncharacterized LOC105373224 Neighboring gene CHRM3 antisense RNA 1 Neighboring gene 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble) pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
GeneReviews: Not available
Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.
GeneReviews: Not available
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
GeneReviews: Not available
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
GeneReviews: Not available
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available
Prune belly syndrome
MedGen: C0033770 OMIM: 100100 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2015-03-11)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2015-03-11)

ClinGen Genome Curation PagePubMed

HIV-1 interactions

Replication interactions

Interaction Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of CHRM3 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 acetylcholine receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables G protein-coupled serotonin receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables acetylcholine binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables neurotransmitter 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 
enables signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in G protein-coupled acetylcholine receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
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 acetylcholine receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within calcium-mediated signaling IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular protein modification process TAS
Traceable Author Statement
more info
PubMed 
involved_in chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in nervous system development TAS
Traceable Author Statement
more info
PubMed 
involved_in positive regulation of smooth muscle contraction IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within regulation of ion transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of vascular associated smooth muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in saliva secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in basal plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
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

Preferred Names
muscarinic acetylcholine receptor M3
Names
acetylcholine receptor, muscarinic 3
m3 muscarinic receptor

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

Genomic

  1. NG_032046.2 RefSeqGene

    Range
    247144..533521
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000740.4NP_000731.1  muscarinic acetylcholine receptor M3

    See identical proteins and their annotated locations for NP_000731.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and represents use of an alternate promoter, compared to variant 1. Both variants 1 and 2 encode the same protein. The 5' end of this transcript contains L1 element sequence, initiates from an L1 element promoter and expression was predominantly found in placenta. (PMID: 19669628)
    Source sequence(s)
    AF279779, AL356361, AL357499, BQ772140
    Consensus CDS
    CCDS1616.1
    UniProtKB/Swiss-Prot
    P20309
    UniProtKB/TrEMBL
    A0A024R3S2
    Related
    ENSP00000255380.4, ENST00000255380.8
    Conserved Domains (3) summary
    cd15299
    Location:66270
    7tmA_mAChR_M3; muscarinic acetylcholine receptor subtype M3, member of the class A family of seven-transmembrane G protein-coupled receptors
    cd14964
    Location:487512
    7tm_GPCRs; TM helix 6 [structural motif]
    cl28897
    Location:484564
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  2. NM_001347716.2NP_001334645.1  muscarinic acetylcholine receptor M3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer variant. Both variants 1 and 2 encode the same protein. The 5' end of this transcript contains long terminal repeat (LTR) sequence, initiates from an LTR promoter and expression was predominantly found in testis. (PMID: 19669628)
    Source sequence(s)
    AC099564, AC104460, AL356361, AL357499, AL513543, BQ772140
    Consensus CDS
    CCDS1616.1
    UniProtKB/Swiss-Prot
    P20309
    UniProtKB/TrEMBL
    A0A024R3S2
    Conserved Domains (3) summary
    cd15299
    Location:66270
    7tmA_mAChR_M3; muscarinic acetylcholine receptor subtype M3, member of the class A family of seven-transmembrane G protein-coupled receptors
    cd14964
    Location:487512
    7tm_GPCRs; TM helix 6 [structural motif]
    cl28897
    Location:484564
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  3. NM_001375978.1NP_001362907.1  muscarinic acetylcholine receptor M3

    Status: REVIEWED

    Source sequence(s)
    AC099564, AC104460, AL356361, AL357499, AL513543
    Related
    ENSP00000502667.1, ENST00000676153.1
    Conserved Domains (3) summary
    cd15299
    Location:66270
    7tmA_mAChR_M3; muscarinic acetylcholine receptor subtype M3, member of the class A family of seven-transmembrane G protein-coupled receptors
    cd14964
    Location:487512
    7tm_GPCRs; TM helix 6 [structural motif]
    cl28897
    Location:484564
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  4. NM_001375979.1NP_001362908.1  muscarinic acetylcholine receptor M3

    Status: REVIEWED

    Source sequence(s)
    AC099564, AC104460, AL356361, AL513543
    Conserved Domains (3) summary
    cd15299
    Location:66270
    7tmA_mAChR_M3; muscarinic acetylcholine receptor subtype M3, member of the class A family of seven-transmembrane G protein-coupled receptors
    cd14964
    Location:487512
    7tm_GPCRs; TM helix 6 [structural motif]
    cl28897
    Location:484564
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  5. NM_001375980.1NP_001362909.1  muscarinic acetylcholine receptor M3

    Status: REVIEWED

    Source sequence(s)
    AC099564, AC104460, AL356361, AL513543
    Conserved Domains (3) summary
    cd15299
    Location:66270
    7tmA_mAChR_M3; muscarinic acetylcholine receptor subtype M3, member of the class A family of seven-transmembrane G protein-coupled receptors
    cd14964
    Location:487512
    7tm_GPCRs; TM helix 6 [structural motif]
    cl28897
    Location:484564
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  6. NM_001375981.1NP_001362910.1  muscarinic acetylcholine receptor M3

    Status: REVIEWED

    Source sequence(s)
    AC099564, AC104460, AL356361, AL357499, AL513543
    Conserved Domains (3) summary
    cd15299
    Location:66270
    7tmA_mAChR_M3; muscarinic acetylcholine receptor subtype M3, member of the class A family of seven-transmembrane G protein-coupled receptors
    cd14964
    Location:487512
    7tm_GPCRs; TM helix 6 [structural motif]
    cl28897
    Location:484564
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  7. NM_001375982.1NP_001362911.1  muscarinic acetylcholine receptor M3

    Status: REVIEWED

    Source sequence(s)
    AC099564, AC104460, AL356361, AL357499, AL513543
    Related
    ENSP00000502349.1, ENST00000675184.1
    Conserved Domains (3) summary
    cd15299
    Location:66270
    7tmA_mAChR_M3; muscarinic acetylcholine receptor subtype M3, member of the class A family of seven-transmembrane G protein-coupled receptors
    cd14964
    Location:487512
    7tm_GPCRs; TM helix 6 [structural motif]
    cl28897
    Location:484564
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  8. NM_001375983.1NP_001362912.1  muscarinic acetylcholine receptor M3

    Status: REVIEWED

    Source sequence(s)
    AC099564, AC104460, AL356361, AL513543
    Conserved Domains (3) summary
    cd15299
    Location:66270
    7tmA_mAChR_M3; muscarinic acetylcholine receptor subtype M3, member of the class A family of seven-transmembrane G protein-coupled receptors
    cd14964
    Location:487512
    7tm_GPCRs; TM helix 6 [structural motif]
    cl28897
    Location:484564
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  9. NM_001375984.1NP_001362913.1  muscarinic acetylcholine receptor M3

    Status: REVIEWED

    Source sequence(s)
    AC099564, AC104460, AL356361, AL357499, AL513543
    Conserved Domains (3) summary
    cd15299
    Location:66270
    7tmA_mAChR_M3; muscarinic acetylcholine receptor subtype M3, member of the class A family of seven-transmembrane G protein-coupled receptors
    cd14964
    Location:487512
    7tm_GPCRs; TM helix 6 [structural motif]
    cl28897
    Location:484564
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  10. NM_001375985.1NP_001362914.1  muscarinic acetylcholine receptor M3

    Status: REVIEWED

    Source sequence(s)
    AC099564, AC104460, AL356361, AL513543
    Conserved Domains (3) summary
    cd15299
    Location:66270
    7tmA_mAChR_M3; muscarinic acetylcholine receptor subtype M3, member of the class A family of seven-transmembrane G protein-coupled receptors
    cd14964
    Location:487512
    7tm_GPCRs; TM helix 6 [structural motif]
    cl28897
    Location:484564
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily

RNA

  1. NR_164748.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC099564, AC104460, AL357499, AL513543
    Related
    ENST00000468573.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    239386565..239915450
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544043.2XP_011542345.1  muscarinic acetylcholine receptor M3 isoform X1

    See identical proteins and their annotated locations for XP_011542345.1

    UniProtKB/Swiss-Prot
    P20309
    UniProtKB/TrEMBL
    A0A024R3S2
    Conserved Domains (3) summary
    cd15299
    Location:66270
    7tmA_mAChR_M3; muscarinic acetylcholine receptor subtype M3, member of the class A family of seven-transmembrane G protein-coupled receptors
    cd14964
    Location:487512
    7tm_GPCRs; TM helix 6 [structural motif]
    cl28897
    Location:484564
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  2. XM_011544044.2XP_011542346.1  muscarinic acetylcholine receptor M3 isoform X1

    See identical proteins and their annotated locations for XP_011542346.1

    UniProtKB/Swiss-Prot
    P20309
    UniProtKB/TrEMBL
    A0A024R3S2
    Conserved Domains (3) summary
    cd15299
    Location:66270
    7tmA_mAChR_M3; muscarinic acetylcholine receptor subtype M3, member of the class A family of seven-transmembrane G protein-coupled receptors
    cd14964
    Location:487512
    7tm_GPCRs; TM helix 6 [structural motif]
    cl28897
    Location:484564
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  3. XM_011544047.2XP_011542349.1  muscarinic acetylcholine receptor M3 isoform X1

    See identical proteins and their annotated locations for XP_011542349.1

    UniProtKB/Swiss-Prot
    P20309
    UniProtKB/TrEMBL
    A0A024R3S2
    Conserved Domains (3) summary
    cd15299
    Location:66270
    7tmA_mAChR_M3; muscarinic acetylcholine receptor subtype M3, member of the class A family of seven-transmembrane G protein-coupled receptors
    cd14964
    Location:487512
    7tm_GPCRs; TM helix 6 [structural motif]
    cl28897
    Location:484564
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  4. XM_017000159.1XP_016855648.1  muscarinic acetylcholine receptor M3 isoform X1

    UniProtKB/Swiss-Prot
    P20309
    UniProtKB/TrEMBL
    A0A024R3S2
    Conserved Domains (3) summary
    cd15299
    Location:66270
    7tmA_mAChR_M3; muscarinic acetylcholine receptor subtype M3, member of the class A family of seven-transmembrane G protein-coupled receptors
    cd14964
    Location:487512
    7tm_GPCRs; TM helix 6 [structural motif]
    cl28897
    Location:484564
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  5. XM_017000162.1XP_016855651.1  muscarinic acetylcholine receptor M3 isoform X1

    UniProtKB/Swiss-Prot
    P20309
    UniProtKB/TrEMBL
    A0A024R3S2
    Conserved Domains (3) summary
    cd15299
    Location:66270
    7tmA_mAChR_M3; muscarinic acetylcholine receptor subtype M3, member of the class A family of seven-transmembrane G protein-coupled receptors
    cd14964
    Location:487512
    7tm_GPCRs; TM helix 6 [structural motif]
    cl28897
    Location:484564
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  6. XM_017000152.2XP_016855641.1  muscarinic acetylcholine receptor M3 isoform X1

    UniProtKB/Swiss-Prot
    P20309
    UniProtKB/TrEMBL
    A0A024R3S2
    Conserved Domains (3) summary
    cd15299
    Location:66270
    7tmA_mAChR_M3; muscarinic acetylcholine receptor subtype M3, member of the class A family of seven-transmembrane G protein-coupled receptors
    cd14964
    Location:487512
    7tm_GPCRs; TM helix 6 [structural motif]
    cl28897
    Location:484564
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  7. XM_017000154.1XP_016855643.1  muscarinic acetylcholine receptor M3 isoform X1

    UniProtKB/Swiss-Prot
    P20309
    UniProtKB/TrEMBL
    A0A024R3S2
    Related
    ENSP00000482377.1, ENST00000615928.5
    Conserved Domains (3) summary
    cd15299
    Location:66270
    7tmA_mAChR_M3; muscarinic acetylcholine receptor subtype M3, member of the class A family of seven-transmembrane G protein-coupled receptors
    cd14964
    Location:487512
    7tm_GPCRs; TM helix 6 [structural motif]
    cl28897
    Location:484564
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  8. XM_017000157.2XP_016855646.1  muscarinic acetylcholine receptor M3 isoform X1

    UniProtKB/Swiss-Prot
    P20309
    UniProtKB/TrEMBL
    A0A024R3S2
    Conserved Domains (3) summary
    cd15299
    Location:66270
    7tmA_mAChR_M3; muscarinic acetylcholine receptor subtype M3, member of the class A family of seven-transmembrane G protein-coupled receptors
    cd14964
    Location:487512
    7tm_GPCRs; TM helix 6 [structural motif]
    cl28897
    Location:484564
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  9. XM_017000160.2XP_016855649.1  muscarinic acetylcholine receptor M3 isoform X1

    UniProtKB/Swiss-Prot
    P20309
    UniProtKB/TrEMBL
    A0A024R3S2
    Conserved Domains (3) summary
    cd15299
    Location:66270
    7tmA_mAChR_M3; muscarinic acetylcholine receptor subtype M3, member of the class A family of seven-transmembrane G protein-coupled receptors
    cd14964
    Location:487512
    7tm_GPCRs; TM helix 6 [structural motif]
    cl28897
    Location:484564
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  10. XM_017000163.2XP_016855652.1  muscarinic acetylcholine receptor M3 isoform X1

    UniProtKB/Swiss-Prot
    P20309
    UniProtKB/TrEMBL
    A0A024R3S2
    Conserved Domains (3) summary
    cd15299
    Location:66270
    7tmA_mAChR_M3; muscarinic acetylcholine receptor subtype M3, member of the class A family of seven-transmembrane G protein-coupled receptors
    cd14964
    Location:487512
    7tm_GPCRs; TM helix 6 [structural motif]
    cl28897
    Location:484564
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
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