CHRM1 Gene (Protein Coding)

Cholinergic Receptor Muscarinic 1

GC11M063907
GIFtS:
47
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 ... See more...

Aliases for CHRM1 Gene

Aliases for CHRM1 Gene

  • Cholinergic Receptor Muscarinic 1 2 3 5
  • Acetylcholine Receptor, Muscarinic 1 2 3
  • Muscarinic Acetylcholine Receptor M1 3 4
  • CHRM1 5
  • HM1 3
  • M1R 3
  • M1 3

External Ids for CHRM1 Gene

Previous GeneCards Identifiers for CHRM1 Gene

  • GC11M065188
  • GC11M064251
  • GC11M062927
  • GC11M062452
  • GC11M062453
  • GC11M062432
  • GC11M062677
  • GC11M059005
  • GC11M062692
  • GC11M062695
  • GC11M062714
  • GC11M062985
  • GC11M063003
  • GC11M063030
  • GC11M063096
  • GC11M062929
  • GC11M062941
  • GC11M062959
  • GC11M063464

Summaries for CHRM1 Gene

Entrez Gene Summary for CHRM1 Gene

  • 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 1 is involved in mediation of vagally-induced bronchoconstriction and in the acid secretion of the gastrointestinal tract. The gene encoding this receptor is localized to 11q13. [provided by RefSeq, Jul 2008]

GeneCards Summary for CHRM1 Gene

CHRM1 (Cholinergic Receptor Muscarinic 1) is a Protein Coding gene. Diseases associated with CHRM1 include Heart Block, Congenital and Alzheimer Disease. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and phosphatidylinositol phospholipase C activity. An important paralog of this gene is CHRM5.

UniProtKB/Swiss-Prot Summary for CHRM1 Gene

  • The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is Pi turnover.

Tocris Summary for CHRM1 Gene

  • Muscarinic receptors are widely distributed throughout the body and control distinct functions according to location and subtype (M1 - M5).They are predominantly expressed in the parasympathetic nervous system where they exert both inhibitory and excitatory effects.

Gene Wiki entry for CHRM1 Gene

Additional gene information for CHRM1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHRM1 Gene

Genomics for CHRM1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CHRM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH11J062921 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 250.7 +1.0 1012 1.7 SP2 HDAC2 PKNOX1 TCF12 TEAD4 NR2F6 ZNF398 HDAC1 MEIS2 ARID1B CHRM1 CSKMT ENSG00000257002 LOC105369333 SLC3A2
GH11J062926 Enhancer 0.8 ENCODE dbSUPER 250.7 -0.1 -63 0.2 BHLHE40 ZIC2 MAX SIN3A ZNF189 GLIS1 KLF1 ZBTB8A MNT EGR2 CHRM1 HSALNG0084677 LOC105369333 SLC22A6
GH11J062922 Enhancer 0.8 ENCODE dbSUPER 250.7 -0.4 -430 0.5 ZEB1 ZIC2 CEBPB MAX SIN3A BHLHE40 ZNF189 PKNOX1 GLIS1 ZBTB8A CHRM1 SLC22A6 HSALNG0084677 LOC105369333
GH11J062927 Enhancer 0.5 FANTOM5 250.7 -1.0 -987 0.1 EBF1 CTCF KDM4B MTA3 KDM1A CHRM1 SLC22A6 HSALNG0084677 LOC105369333
GH11J062878 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 0.3 +39.9 39917 6.1 CHD2 TBP ZBTB10 SP1 MXD4 CEBPA MNT DEK IKZF1 SMAD5 SLC3A2 HSALNG0084674 lnc-CHRM1-1 SNHG1 CSKMT NXF1 TAF6L GANAB TTC9C MTA2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHRM1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CHRM1

Top Transcription factor binding sites by QIAGEN in the CHRM1 gene promoter:
  • c-Myb
  • MyoD
  • NF-kappaB
  • NF-kappaB1
  • NRSF form 1
  • NRSF form 2

Genomic Locations for CHRM1 Gene

Latest Assembly
chr11:62,908,675-62,921,861
(GRCh38/hg38)
Size:
13,187 bases
Orientation:
Minus strand

Previous Assembly
chr11:62,676,151-62,688,835
(GRCh37/hg19 by Entrez Gene)
Size:
12,685 bases
Orientation:
Minus strand

chr11:62,676,151-62,689,279
(GRCh37/hg19 by Ensembl)
Size:
13,129 bases
Orientation:
Minus strand

Genomic View for CHRM1 Gene

Genes around CHRM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHRM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHRM1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CHRM1 Gene

Proteins for CHRM1 Gene

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  • Protein details for CHRM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11229-ACM1_HUMAN
    Recommended name:
    Muscarinic acetylcholine receptor M1
    Protein Accession:
    P11229
    Secondary Accessions:
    • Q96RH1

    Protein attributes for CHRM1 Gene

    Size:
    460 amino acids
    Molecular mass:
    51421 Da
    Quaternary structure:
    • Interacts with GPRASP2 (PubMed:15086532). Interacts with TMEM147 (PubMed:21056967).

    Three dimensional structures from OCA and Proteopedia for CHRM1 Gene

    Alternative splice isoforms for CHRM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHRM1 Gene

Protein Expression for CHRM1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CHRM1 Gene

  • Glycosylation at Asn2 and Asn12
  • Modification sites at PhosphoSitePlus

Other Protein References for CHRM1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CHRM1 Gene

Domains & Families for CHRM1 Gene

Gene Families for CHRM1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • G-protein coupled receptors
  • Predicted membrane proteins

Protein Domains for CHRM1 Gene

InterPro:
Blocks:
  • Muscarinic acetylcholine receptor signature
  • Muscarinic M1 receptor signature
ProtoNet:

Suggested Antigen Peptide Sequences for CHRM1 Gene

GenScript: Design optimal peptide antigens:
  • Muscarinic acetylcholine receptor M1 (ACM1_HUMAN)
  • cDNA, FLJ92698, highly similar to Homo sapiens cholinergic receptor, muscarinic 1 (CHRM1), mRNA (Q53XZ3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P11229

UniProtKB/Swiss-Prot:

ACM1_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family. Muscarinic acetylcholine receptor subfamily. CHRM1 sub-subfamily.
Family:
  • Belongs to the G-protein coupled receptor 1 family. Muscarinic acetylcholine receptor subfamily. CHRM1 sub-subfamily.
genes like me logo Genes that share domains with CHRM1: view

Function for CHRM1 Gene

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  6. Cell Lines for research

Molecular function for CHRM1 Gene

UniProtKB/Swiss-Prot Function:
The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is Pi turnover.
GENATLAS Biochemistry:
cholinergic receptor,muscarinic 1,G protein coupled receptor superfamily

Phenotypes From GWAS Catalog for CHRM1 Gene

Gene Ontology (GO) - Molecular Function for CHRM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004435 phosphatidylinositol phospholipase C activity TAS 9614217
GO:0004930 G protein-coupled receptor activity IEA --
GO:0004993 G protein-coupled serotonin receptor activity IBA 21873635
GO:0005515 protein binding IPI 21056967
GO:0016907 G protein-coupled acetylcholine receptor activity IEA,IBA 21873635
genes like me logo Genes that share ontologies with CHRM1: view
genes like me logo Genes that share phenotypes with CHRM1: view

Animal Models for CHRM1 Gene

MGI Knock Outs for CHRM1:

Animal Models for research

miRNA for CHRM1 Gene

miRTarBase miRNAs that target CHRM1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHRM1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CHRM1 Gene

Localization for CHRM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHRM1 Gene

Cell membrane. Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHRM1 gene
Compartment Confidence
plasma membrane 5
nucleus 3
cytosol 3
extracellular 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CHRM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane IEA,IBA 21873635
GO:0014069 postsynaptic density IEA --
GO:0016020 membrane IEA,TAS 7925360
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CHRM1: view

Pathways & Interactions for CHRM1 Gene

genes like me logo Genes that share pathways with CHRM1: view

SIGNOR curated interactions for CHRM1 Gene

Activates:

Gene Ontology (GO) - Biological Process for CHRM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA,TAS 1411529
GO:0007186 G protein-coupled receptor signaling pathway IEA,TAS --
GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger IBA 21873635
GO:0007197 adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway IBA 21873635
GO:0007205 protein kinase C-activating G protein-coupled receptor signaling pathway TAS 9603968
genes like me logo Genes that share ontologies with CHRM1: view

Drugs & Compounds for CHRM1 Gene

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(245) Drugs for CHRM1 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Atropine Approved, Vet_approved Pharma Antagonist, Target MAChRs antagonist 221
Darifenacin Approved, Investigational Pharma Antagonist, Target 26
Ipratropium Approved, Experimental Pharma Antagonist, Target 161
Pilocarpine Approved, Investigational Pharma Agonist, Partial agonist, Target 43
Pirenzepine Approved Pharma Antagonist, Target 1

(18) Additional Compounds for CHRM1 Gene - From: HMDB, IUPHAR, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(-)aceclidine
Agonist, Partial agonist
(-)YM796
Agonist, Partial agonist
(+)aceclidine
Agonist, Full agonist
HHSiD
Antagonist
N-Dealkylated tolterodine

(5) Tocris Compounds for CHRM1 Gene

Compound Action Cas Number
Cevimeline hydrochloride Selective M1 agonist 107220-28-0
McN-A 343 Selective M1 muscarinic agonist 55-45-8
Nitrocaramiphen hydrochloride Muscarinic antagonist, M1 > M2 98636-73-8
Pirenzepine dihydrochloride Selective M1 muscarinic antagonist 29868-97-1
Xanomeline oxalate Functionally selective M1 agonist 141064-23-5

(59) ApexBio Compounds for CHRM1 Gene

Compound Action Cas Number
(+)-Muscarine iodide 24570-49-8
(±)-Acetylcarnitine chloride cholinergic agonist 2504-11-2
(±)-Decanoylcarnitine chloride cholinergic agonist 14919-36-9
(±)-Hexanoylcarnitine chloride cholinergic agonist 6920-35-0
(±)-Myristoylcarnitine chloride cholinergic agonist 14919-38-1
(±)-Octanoylcarnitine chloride 18822-86-1
(±)-Propionylcarnitine chloride 18828-58-5
(R)-(+)-Tolterodine 124937-51-5
(S)-(+)-Dimethindene maleate 136152-65-3
4-DAMP 1952-15-4
5-Methylfurmethiodide 1197-60-0
Aclidinium Bromide LAMAs antagonist 320345-99-1
AF-DX 116 102394-31-0
AF-DX 384 118290-26-9
Arecaidine but-2-ynyl ester tosylate 119630-77-2
Arecaidine propargyl ester tosylate 147202-94-6
Arecoline hydrobromide Muscarinic receptor agonist 300-08-3
Atropine MAChRs antagonist 5908-99-6
Bethanechol chloride Muscarinic receptor agonist 590-63-6
Biperiden HCl Anticholinergic drug 1235-82-1
Cevimeline Muscarinic receptor agonist 107233-08-9
Cevimeline hydrochloride hemihydrate Agonist of muscarinic receptor (M1/M3) 153504-70-2
Darifenacin HBr 133099-07-7
DAU 5884 hydrochloride 131780-48-8
Dicyclomine HCl 67-92-5
Diphenylpyraline HCl 132-18-3
Fesoterodine Fumarate 286930-03-8
Glycopyrrolate 596-51-0
Homatropine Bromide Muscarinic AChR antagonist 51-56-9
Homatropine Methylbromide Muscarinic AChR antagonist 80-49-9
J 104129 fumarate 257603-40-0
McN-A 343 55-45-8
Mepenzolate Bromide mAChR antagonist 76-90-4
Methscopolamine Muscarinic acetylcholine receptor blocker 155-41-9
Milameline hydrochloride 139886-04-7
Nitrocaramiphen hydrochloride 98636-73-8
Oxotremorine M 3854-04-4
Oxotremorine sesquifumarate 17360-35-9
PD 102807 23062-91-1
Pirenzepine dihydrochloride 29868-97-1
Pridinol Methanesulfonate 6856-31-1
PTAC oxalate 201939-40-4
Scopolamine butylbromide 149-64-4
Scopolamine hydrobromide 114-49-8
Solifenacin succinate Muscarinic receptor antagonist 242478-38-2
Telenzepine dihydrochloride 147416-96-4
Tiotropium Bromide MAChR M antagonist 136310-93-5
Tiotropium Bromide hydrate Muscarinic antagonist 139404-48-1
Tolterodine tartrate 124937-52-6
Tropicamide Antimuscarinic drug 1508-75-4
Trospium chloride Antimuscarinic agent 10405-02-4
Umeclidinium bromide MAChR antagonist 869113-09-7
VU 0238429 1160247-92-6
VU 0255035 1135243-19-4
VU 0357017 hydrochloride 1135242-13-5
VU 0365114 1208222-39-2
VU 10010 633283-39-3
W-84 dibromide 21093-51-6
Zamifenacin fumarate 127308-98-9
genes like me logo Genes that share compounds with CHRM1: view

Drug products for research

Transcripts for CHRM1 Gene

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mRNA/cDNA for CHRM1 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHRM1

Alternative Splicing Database (ASD) splice patterns (SP) for CHRM1 Gene

No ASD Table

Relevant External Links for CHRM1 Gene

GeneLoc Exon Structure for
CHRM1

Expression for CHRM1 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CHRM1 Gene

mRNA expression in normal human tissues for CHRM1 Gene
mRNA expression by GTEx for CHRM1 Gene

mRNA differential expression in normal tissues according to GTEx for CHRM1 Gene

This gene is overexpressed in Brain - Cortex (x8.8), Brain - Frontal Cortex (BA9) (x7.2), Brain - Nucleus accumbens (basal ganglia) (x5.7), Brain - Anterior cingulate cortex (BA24) (x5.6), Brain - Putamen (basal ganglia) (x5.3), Brain - Hippocampus (x4.4), and Brain - Caudate (basal ganglia) (x4.2).

Protein differential expression in normal tissues from HIPED for CHRM1 Gene

This gene is overexpressed in Ovary (50.2) and Liver (17.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CHRM1 Gene



Protein tissue co-expression partners for CHRM1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CHRM1

SOURCE GeneReport for Unigene cluster for CHRM1 Gene:

Hs.632119

Evidence on tissue expression from TISSUES for CHRM1 Gene

  • Nervous system(4.9)
  • Muscle(2.8)
  • Heart(2.5)
genes like me logo Genes that share expression patterns with CHRM1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CHRM1 Gene

Orthologs for CHRM1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHRM1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CHRM1 30 31
  • 99.86 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CHRM1 30 31
  • 93.04 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CHRM1 30 31
  • 92.39 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Chrm1 30
  • 91.59 (n)
Mouse
(Mus musculus)
 Mammalia Chrm1 30 17 31
  • 91.38 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia CHRM1 31
  • 89 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CHRM1 31
  • 62 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100490434 30
  • 62.54 (n)
Zebrafish
(Danio rerio)
 Actinopterygii CU019640.1 31
  • 49 (a)
 OneToMany
CHRM1 (1 of 2) 31
  • 45 (a)
 OneToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta mAcR-60C 30 31 32
  • 63.75 (n)
 OneToMany
CG7918 32
  • 37 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta GPRMAC1 30
  • 59.98 (n)
Worm
(Caenorhabditis elegans)
 Secernentea gar-3 30 31
  • 50.95 (n)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 36 (a)
 OneToMany
Species where no ortholog for CHRM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CHRM1 Gene

ENSEMBL:
Gene Tree for CHRM1 (if available)
TreeFam:
Gene Tree for CHRM1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CHRM1: view image

Paralogs for CHRM1 Gene

Paralogs for CHRM1 Gene

(16) SIMAP similar genes for CHRM1 Gene using alignment to 4 proteins:

  • ACM1_HUMAN
  • F5GZF8_HUMAN
  • Q53XZ3_HUMAN
  • Q96RH1_HUMAN
genes like me logo Genes that share paralogs with CHRM1: view

Variants for CHRM1 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CHRM1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs138454662 Likely Benign: not provided 62,910,369(-) A/T
NM_000738.3(CHRM1):c.732T>A (p.Ser244=) 		SYNONYMOUS
rs139087623 Uncertain Significance: not provided 62,910,483(-) C/T
NM_000738.3(CHRM1):c.618G>A (p.Thr206=) 		SYNONYMOUS
rs144107564 Likely Benign: not provided 62,910,411(-) C/T
NM_000738.3(CHRM1):c.690G>A (p.Thr230=) 		SYNONYMOUS
rs148741609 Benign: not provided 62,909,964(-) T/G
NM_000738.3(CHRM1):c.1137A>C (p.Thr379=) 		SYNONYMOUS
rs201075402 Likely Benign: not provided 62,911,059(-) G/A
NM_000738.3(CHRM1):c.42C>T (p.Thr14=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CHRM1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CHRM1 Gene

Variant ID Type Subtype PubMed ID
esv34011 CNV loss 18971310

Variation tolerance for CHRM1 Gene

Residual Variation Intolerance Score: 16.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.44; 9.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CHRM1 Gene

Human Gene Mutation Database (HGMD)
CHRM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHRM1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHRM1 Gene

Disorders for CHRM1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CHRM1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
heart block, congenital
  • congenital heart block
alzheimer disease
  • ad
schizophrenia
  • sczd
attention deficit-hyperactivity disorder
  • adhd
disease of mental health
  • mental health
- elite association - COSMIC cancer census association via MalaCards
Search CHRM1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CHRM1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CHRM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CHRM1 Gene

Publications for CHRM1 Gene

  1. Muscarinic acetylcholine receptor 1 gene polymorphisms associated with high myopia. (PMID: 19753311) Lin HJ … Tsai FJ (Molecular vision 2009) 3 23 41
  2. Polymorphisms in the muscarinic receptor 1 gene confer susceptibility to asthma in Japanese subjects. (PMID: 16931638) Maeda Y … Nishimura M (American journal of respiratory and critical care medicine 2006) 3 23 41
  3. Gene-based analysis suggests association of the nicotinic acetylcholine receptor beta1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependence. (PMID: 16874522) Lou XY … Li MD (Human genetics 2006) 3 23 41
  4. Regulation of M₃ muscarinic receptor expression and function by transmembrane protein 147. (PMID: 21056967) Rosemond E … Wess J (Molecular pharmacology 2011) 3 4
  5. Muscarinic cholinoceptor activation by pilocarpine triggers apoptosis in human skin fibroblast cells. (PMID: 19927300) Reina S … Borda E (Journal of cellular physiology 2010) 3 23

ExternalLinks

View latest publications for CHRM1 gene in Mastermind

Products for CHRM1 Gene

  • Addgene plasmids for CHRM1

Sources for CHRM1 Gene