MGP Database

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MGP000055

UniProt Annotations

Entry Information
Gene Nameadenylate cyclase 1 (brain)
Protein EntryADCY1_HUMAN
UniProt IDQ08828
SpeciesHuman
Comments
Comment typeDescription
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};
DiseaseDeafness, autosomal recessive, 44 (DFNB44) [MIM:610154]: A form of non-syndromic deafness characterized by prelingual profound hearing loss affecting all frequencies. {ECO:0000269|PubMed:24482543}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationActivated by calcium/calmodulin. Inhibited by the G protein beta and gamma subunit complex.
FunctionThis is a calmodulin-sensitive adenylyl cyclase. May be involved in regulatory processes in the central nervous system. It may play a role in memory acquisition and learning. Plays a role in the regulation of the circadian rhythm of daytime contrast sensitivity probably by modulating the rhythmic synthesis of cyclic AMP in the retina (By similarity). {ECO:0000250}.
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. Cytoplasm {ECO:0000250|UniProtKB:O88444}. Note=Expressed in the cytoplasm of supporting cells and hair cells of the cochlea vestibule, as well as to the cochlear hair cell nuclei and stereocilia. {ECO:0000250|UniProtKB:O88444}.
Tissue SpecificityBrain, retina and adrenal medulla.
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