ADCY5

This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

Full Name

Adenylate Cyclase 5

Function

Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling. Mediates signaling downstream of ADRB1. Regulates the increase of free cytosolic Ca2+ in response to increased blood glucose levels and contributes to the regulation of Ca2+-dependent insulin secretion.

Biological Process

Activation of adenylate cyclase activity
Activation of protein kinase A activity
Adenylate cyclase-activating dopamine receptor signaling pathway
Adenylate cyclase-activating G protein-coupled receptor signaling pathway
Adenylate cyclase-inhibiting dopamine receptor signaling pathway
Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway
cAMP biosynthetic process
Cellular response to forskolin
Cellular response to glucagon stimulus
G protein-coupled adenosine receptor signaling pathway
G protein-coupled receptor signaling pathway
Locomotory behavior
Negative regulation of inflammatory response to antigenic stimulus
Neuromuscular process controlling balance
Positive regulation of cytosolic calcium ion concentration
Regulation of insulin secretion involved in cellular response to glucose stimulus
Renal water homeostasis

Cellular Location

Cell membrane; Cilium

Involvement in disease

Dyskinesia, familial, with facial myokymia (FDFM): 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.

PTM

Phosphorylated by RAF1.