PRKAR1A
Function
Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells.
Involvement in disease
Carney complex 1
CNC1
CNC is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas.
None
The disease is caused by variants affecting the gene represented in this entry.
Intracardiac myxoma
INTMYX
Inheritance is autosomal recessive.
None
The disease is caused by variants affecting the gene represented in this entry.
Primary pigmented nodular adrenocortical disease 1
PPNAD1
A rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. PPNAD1 is most often diagnosed in patients with Carney complex, a multiple neoplasia syndrome. However it can also be observed in patients without other manifestations.
None
The disease is caused by variants affecting the gene represented in this entry.
Acrodysostosis 1, with or without hormone resistance
ACRDYS1
A form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin. However, not all patients show endocrine abnormalities.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
The pseudophosphorylation site binds to the substrate-binding region of the catalytic chain, resulting in the inhibition of its activity.
Sequence Similarities
Belongs to the cAMP-dependent kinase regulatory chain family.
Tissue Specificity
Four types of regulatory chains are found: I-alpha, I-beta, II-alpha, and II-beta. Their expression varies among tissues and is in some cases constitutive and in others inducible.
Cellular localization
- Cell membrane
Alternative names
PKR1, PRKAR1, TSE1, PRKAR1A, cAMP-dependent protein kinase type I-alpha regulatory subunit, Tissue-specific extinguisher 1
Database links
swissprot:P10644 entrezGene:5573 entrezGene:5575 swissprot:P31321 swissprot:P07949 omim:188830 omim:176911 omim:164761 entrezGene:5979