• Gene id: 1133

Gene Summary

• Gene Symbol: CHRM5   Gene   UCSC   Ensembl
• Aliases: HM5
• Gene name: cholinergic receptor muscarinic 5
• Alternate names: muscarinic acetylcholine receptor M5, acetylcholine receptor, muscarinic 5,
• Gene location: 15q14 (33968496: 34067457)     Exons: 3     NC_000015.10
• 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: 610620

SNPs

rs11749327

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.457146C>A
NC_000005.9   g.457261C>A|SEQ=[C/A]|GENE=EXOC3

Protein Summary

• Protein general information: P08912  
  • Name: Muscarinic acetylcholine receptor M5
  • Length: 532  
  • Mass: 60074
• Sequence:

  MEGDSYHNATTVNGTPVNHQPLERHRLWEVITIAAVTAVVSLITIVGNVLVMISFKVNSQLKTVNNYYLLSLACA
  DLIIGIFSMNLYTTYILMGRWALGSLACDLWLALDYVASNASVMNLLVISFDRYFSITRPLTYRAKRTPKRAGIM
  IGLAWLISFILWAPAILCWQYLVGKRTVPLDECQIQFLSEPTITFGTAIAAFYIPVSVMTILYCRIYRETEKRTK
  DLADLQGSDSVTKAEKRKPAHRALFRSCLRCPRPTLAQRERNQASWSSSRRSTSTTGKPSQATGPSANWAKAEQL
  TTCSSYPSSEDEDKPATDPVLQVVYKSQGKESPGEEFSAEETEETFVKAETEKSDYDTPNYLLSPAAAHRPKSQK
  CVAYKFRLVVKADGNQETNNGCHKVKIMPCPFPVAKEPSTKGLNPNPSHQMTKRKRVVLVKERKAAQTLSAILLA
  FIITWTPYNIMVLVSTFCDKCVPVTLWHLGYWLCYVNSTVNPICYALCNRTFRKTFKMLLLCRWKKKKVEEKLYW
  QGNSKLP

• Structural information:
  • Interpro: IPR000276  IPR017452  IPR000502  IPR000995  
  • Prosite: PS00237 PS50262
  • PDB: 6OL9
  • PDBsum: 6OL9
  • STRING: ENSP00000372750
• Other Databases: GeneCards:  CHRM5  Malacards:  CHRM5

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:0016907	G protein-coupled acetylcholine receptor activity	IEA	molecular function
GO:0001696	gastric acid 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:0030054	cell junction	IEA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0016021	integral component of 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:0007197	adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway	TAS	biological process
GO:0007213	G protein-coupled acetylcholine receptor signaling pathway	TAS	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:0005515	protein binding	IPI	molecular function
GO:0019226	transmission of nerve impulse	IEA	biological process
GO:0015872	dopamine transport	IEA	biological process
GO:0060304	regulation of phosphatidylinositol dephosphorylation	IEA	biological process
GO:0016907	G protein-coupled acetylcholine receptor activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0098664	G protein-coupled serotonin receptor signaling pathway	IEA	biological process

KEGG pathways

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

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq