Aliases for ADCY1 Gene
External Ids 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 (Brain)) 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 Signaling by FGFR and Signaling by FGFR. GO annotations related to this gene include calmodulin binding and calcium- and calmodulin-responsive adenylate cyclase activity. An important paralog of this gene is ADCY5.
UniProtKB/Swiss-Prot for ADCY1 Gene
This 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).
Adenylyl Cyclases (AC) are a group of enzymes that convert adenosine-5-triphosphate (ATP) into 3,5-adenosine monophosphate (cAMP) and pyrophosphate. There are ten different mammalian isoforms of AC; nine are membrane-bound, which are all found in, but not limited to, excitable tissues such as neurons and muscle, and one soluble form (sAC), which is expressed predominantly in the testis. The ten adenylyl cyclase isoforms can be divided into five distinct families based on their functional attributes; AC1, AC3 and AC8 are Ca2+-calmodulin-sensitive; AC2, AC4 and AC7 are Gbetagamma-stimulatory forms; AC5 and AC6 are distinguished by their insensitivity to inhibition by both Ca2+ and Galphai; AC9 is forskolin-insensitive and sAC is similar to cyanobacteria AC. Adenylyl cyclases are regulated by post-translational modifications, phosphorylation, G proteins, forskolin, pyrophosphate, calcium and calmodulin and the functions of this enzyme are diverse. Perturbations in adenylyl cyclase activity has been implicated in alcholol and opioid addiction and is associated with human diseases, including thyroid adenoma, male precocious puberty and chondrodysplasia.