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ADCY10

Domain

The N-terminal guanylate cyclase domains are required for enzyme activity. Fragments or isoforms containing the first 470 amino acid residues are fully active.

Function

Catalyzes the formation of the signaling molecule cAMP (PubMed:12609998, PubMed:15659711, PubMed:24567411, PubMed:24616449, PubMed:25040695). May function as sensor that mediates responses to changes in cellular bicarbonate and CO(2) levels (PubMed:15659711, PubMed:17591988). Has a critical role in mammalian spermatogenesis by producing the cAMP which regulates cAMP-responsive nuclear factors indispensable for sperm maturation in the epididymis. Induces capacitation, the maturational process that sperm undergo prior to fertilization (By similarity). Involved in ciliary beat regulation (PubMed:17591988).

Involvement in disease

Hypercalciuria absorptive 2

HCA2

A common type of hypercalciuria, a condition characterized by excessive urinary calcium excretion. Absorptive hypercalciuria is due to gastrointestinal hyperabsorption of calcium and is a frequent cause of calcium oxalate nephrolithiasis.

None

Disease susceptibility is associated with variants affecting the gene represented in this entry.

Post-translational modifications

Cleavage may occur to generate the active 48 kDa form.

Sequence Similarities

Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.

Tissue Specificity

Detected in airway epithelial cells and testis (at protein level) (PubMed:17591988). Weakly expressed in multiple tissues. Expressed in brain, heart, kidney, liver, lung, pancreas, peripheral blood leukocytes, placenta, skeletal muscle, stomach, thymus, airway epithelial cells, duodenum, jejunum and ileum. Very low level of expression in bone.

Cellular localization

Alternative names

SAC, ADCY10, Adenylate cyclase type 10, AH-related protein, Adenylate cyclase homolog, Germ cell soluble adenylyl cyclase, Testicular soluble adenylyl cyclase, hsAC, sAC

swissprot:Q96PN6 omim:605205 entrezGene:55811