Aliases for ADCY1 Gene
External Ids for ADCY1 Gene
Previous HGNC Symbols for ADCY1 Gene
Previous GeneCards Identifiers for ADCY1 Gene
This gene encodes a member of the of adenylate cyclase gene family that is primarily expressed in the brain. This protein is regulated by calcium/calmodulin concentration and may be involved in brain development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
GeneCards Summary for ADCY1 Gene
ADCY1 (Adenylate Cyclase 1) is a Protein Coding gene. Diseases associated with ADCY1 include Deafness, Autosomal Recessive 44 and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. Among its related pathways are Apelin signaling pathway and G-Beta Gamma Signaling. Gene Ontology (GO) annotations related to this gene include nucleotide binding and phosphorus-oxygen lyase activity. An important paralog of this gene is ADCY6.
UniProtKB/Swiss-Prot Summary for ADCY1 Gene
Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling. Mediates responses to increased cellular Ca(2+)/calmodulin levels (By similarity). May be involved in regulatory processes in the central nervous system. May play a role in memory 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).
Adenylyl Cyclases (AC) are a group of enzymes that convert adenosine-5'-triphosphate (ATP) into 3',5'-adenosine monophosphate (cyclic AMP/cAMP) and pyrophosphate. There are ten different mammalian isoforms of adenylyl cylase; nine of which are membrane-bound.