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 Adenylate cyclase inhibitory pathway and DAG and IP3 signaling. Gene Ontology (GO) annotations related to this gene include nucleotide binding and phosphorus-oxygen lyase activity. An important paralog of this gene is ADCY5.
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.