• Gene id: 1128

Gene Summary

• Gene Symbol: CHRM1   Gene   UCSC   Ensembl
• Aliases: HM1, M1, M1R
• Gene name: cholinergic receptor muscarinic 1
• Alternate names: muscarinic acetylcholine receptor M1, acetylcholine receptor, muscarinic 1,
• Gene location: 11q12.3 (62921860: 62908674)     Exons: 3     NC_000011.10
• Gene summary(Entrez): 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, pho
• OMIM: 600715

Protein Summary

• Protein general information: P11229  
  • Name: Muscarinic acetylcholine receptor M1
  • Length: 460  
  • Mass: 51421
• Sequence:

  MNTSAPPAVSPNITVLAPGKGPWQVAFIGITTGLLSLATVTGNLLVLISFKVNTELKTVNNYFLLSLACADLIIG
  TFSMNLYTTYLLMGHWALGTLACDLWLALDYVASNASVMNLLLISFDRYFSVTRPLSYRAKRTPRRAALMIGLAW
  LVSFVLWAPAILFWQYLVGERTVLAGQCYIQFLSQPIITFGTAMAAFYLPVTVMCTLYWRIYRETENRARELAAL
  QGSETPGKGGGSSSSSERSQPGAEGSPETPPGRCCRCCRAPRLLQAYSWKEEEEEDEGSMESLTSSEGEEPGSEV
  VIKMPMVDPEAQAPTKQPPRSSPNTVKRPTKKGRDRAGKGQKPRGKEQLAKRKTFSLVKEKKAARTLSAILLAFI
  LTWTPYNIMVLVSTFCKDCVPETLWELGYWLCYVNSTINPMCYALCNKAFRDTFRLLLLCRWDKRRWRKIPKRPG
  SVHRTPSRQC

• Structural information:
  • Interpro: IPR000276  IPR017452  IPR002228  IPR000995  
  • Prosite: PS00237 PS50262
  • PDB: 5CXV 6OIJ
  • PDBsum: 5CXV 6OIJ
  • STRING: ENSP00000306490
• Other Databases: GeneCards:  CHRM1  Malacards:  CHRM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004993	G protein-coupled serotonin receptor activity	IBA	molecular function
GO:0007187	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	IBA	biological process
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0016907	G protein-coupled acetylcholine receptor activity	IBA	molecular function
GO:0030425	dendrite	IBA	cellular component
GO:0004930	G protein-coupled receptor activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0007197	adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway	IBA	biological process
GO:0030594	neurotransmitter receptor activity	IBA	molecular function
GO:0045202	synapse	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0016907	G protein-coupled acetylcholine receptor activity	IEA	molecular function
GO:0046541	saliva secretion	IEA	biological process
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0040012	regulation of locomotion	IEA	biological process
GO:0050890	cognition	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0004435	phosphatidylinositol phospholipase C activity	TAS	molecular function
GO:0016907	G protein-coupled acetylcholine receptor activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0007213	G protein-coupled acetylcholine receptor signaling pathway	TAS	biological process
GO:0007399	nervous system development	TAS	biological process
GO:0016020	membrane	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0007205	protein kinase C-activating G protein-coupled receptor signaling pathway	TAS	biological process
GO:0007207	phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway	TAS	biological process
GO:0043270	positive regulation of ion transport	IGI	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0099529	neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential	IEA	molecular function
GO:0099055	integral component of postsynaptic membrane	IEA	cellular component
GO:0098981	cholinergic synapse	IEA	cellular component
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0090316	positive regulation of intracellular protein transport	IEA	biological process
GO:0032279	asymmetric synapse	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0016907	G protein-coupled acetylcholine receptor activity	IEA	molecular function
GO:0040012	regulation of locomotion	IEA	biological process
GO:0099061	integral component of postsynaptic density membrane	IEA	cellular component
GO:0099056	integral component of presynaptic membrane	IEA	cellular component
GO:0043679	axon terminus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0007274	neuromuscular synaptic transmission	IEA	biological process
GO:0007213	G protein-coupled acetylcholine receptor signaling pathway	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0060251	regulation of glial cell proliferation	TAS	biological process
GO:0098664	G protein-coupled serotonin receptor signaling pathway	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa04080	Neuroactive ligand-receptor interaction
hsa04151	PI3K-Akt signaling pathway
hsa04810	Regulation of actin cytoskeleton
hsa04024	cAMP signaling pathway
hsa04020	Calcium signaling pathway
hsa04725	Cholinergic synapse

Diseases

Associated diseases	References
Lambert-Eaton myasthenic syndrome	PMID:17764462
Asthma	PMID:16931638
Myasthenia gravis	PMID:17764462
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq