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MGP000550

UniProt Annotations

Entry Information
Gene Namecholinergic receptor, muscarinic 3
Protein EntryACM3_HUMAN
UniProt IDP20309
SpeciesHuman
Comments
Comment typeDescription
DiseaseEagle-Barrett syndrome (EGBRS) [MIM:100100]: A syndrome characterized by thin abdominal musculature with overlying lax skin, cryptorchism, megacystis with disorganized detrusor muscle, and urinary tract abnormalities. {ECO:0000269|PubMed:22077972}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionThe 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. {ECO:0000269|PubMed:7565628}.
InteractionQ8IZF0:NALCN; NbExp=3; IntAct=EBI-2687785, EBI-7085333;
SimilarityBelongs to the G-protein coupled receptor 1 family. Muscarinic acetylcholine receptor subfamily. CHRM3 sub-subfamily. {ECO:0000255|PROSITE-ProRule:PRU00521}.
Subcellular LocationCell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Basolateral cell membrane; Multi-pass membrane protein.
SubunitHomodimer; the dimers can form tetramers. {ECO:0000269|PubMed:23521066}.
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