PRKAR1A Antibody – Rabbit Polyclonal

cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. This gene encodes one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblast hybrids. Mutations in this gene cause Carney complex (CNC). This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. A nonconventional nuclear localization sequence (NLS) has been found for this protein which suggests a role in DNA replication via the protein serving as a nuclear transport protein for the second subunit of the Replication Factor C (RFC40). Several alternatively spliced transcript variants encoding two different isoforms have been observed. [provided by RefSeq, Jan 2013]

PKAR1A: a regulatory subunit of cAMP-regulated protein kinase. The inactive form of the enzyme is composed of two regulatory chains and two catalytic chains. Activation by cAMP produces two active catalytic monomers and a regulatory dimer that binds four cAMP molecules. 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. Interacts with RFC2: the complex may be involved in cell survival. Defects in PRKAR1A are the cause of Carney complex type 1 (CNC1). CNC is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas.

Protein type: Protein kinase, regulatory subunit

Chromosomal Location of Human Ortholog: 17q24.2

Cellular Component: AMP-activated protein kinase complex; cytoplasm; cytosol; immunological synapse; membrane; protein complex

Molecular Function: cAMP-dependent protein kinase inhibitor activity; cAMP-dependent protein kinase regulator activity; protein binding; ubiquitin protein ligase binding

Biological Process: activation of protein kinase A; blood coagulation; negative regulation of activated T cell proliferation; regulation of transcription from RNA polymerase II promoter; renal water homeostasis

Disease: Acrodysostosis 1 With Or Without Hormone Resistance; Carney Complex, Type 1; Myxoma, Intracardiac; Pigmented Nodular Adrenocortical Disease, Primary, 1; Thyroid Carcinoma, Papillary