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MGP000058

UniProt Annotations

Entry Information
Gene Nameadenylate cyclase 5
Protein EntryADCY5_HUMAN
UniProt IDO95622
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=O95622-1; Sequence=Displayed; Name=2; IsoId=O95622-2; Sequence=VSP_042914, VSP_042915; Note=No experimental confirmation available.;
Catalytic ActivityATP = 3',5'-cyclic AMP + diphosphate.
CofactorName=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000250}; Note=Binds 2 magnesium ions per subunit. {ECO:0000250};
DiseaseDyskinesia, familial, with facial myokymia (FDFM) [MIM:606703]: A disorder characterized by predominantly perioral and periorbital myokymia, and face, neck and upper limb dystonic/choreic movements. Initially paroxysmal and worsened by stress, the dyskinetic episodes become nearly constant by the end of the third decade of life, but in some individuals, they may diminish in frequency and severity at older ages. {ECO:0000269|PubMed:22782511}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationInhibition by calcium in the submicromolar concentration range (By similarity). Phosphorylation by RAF1 results in its activation. {ECO:0000250, ECO:0000269|PubMed:15385642}.
FunctionThis is a membrane-bound, calcium-inhibitable adenylyl cyclase.
PtmPhosphorylated by RAF1. {ECO:0000269|PubMed:15385642}.
SimilarityBelongs to the adenylyl cyclase class-4/guanylyl cyclase family. {ECO:0000255|PROSITE-ProRule:PRU00099}.
SimilarityContains 2 guanylate cyclase domains. {ECO:0000255|PROSITE-ProRule:PRU00099}.
Subcellular LocationMembrane; Multi-pass membrane protein. Cell projection, cilium {ECO:0000250}.
SubunitPart of a complex containing AKAP5, ADCY6, PDE4C and PKD2 (By similarity). Interacts with RAF1. {ECO:0000250, ECO:0000269|PubMed:15385642}.
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