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PRKAR1A
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PRKAR1A
cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activatingthe cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different targetproteins. 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 cAMPand two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits havebeen identified in humans. This gene encodes one of the regulatory subunits. This protein was found to be atissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblasthybrids. Mutations in this gene cause Carney complex (CNC). This gene can fuse to the RET protooncogene by generearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. A nonconventional nuclearlocalization sequence (NLS) has been found for this protein which suggests a role in DNA replication via theprotein 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. (providedby RefSeq, Jan 2013)cAMP is a signaling molecule important for a variety of cellular functions
cAMP exerts its effects by activatingthe cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different targetproteins. 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 cAMPand two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits havebeen identified in humans. This gene encodes one of the regulatory subunits. This protein was found to be atissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblasthybrids. Mutations in this gene cause Carney complex (CNC). This gene can fuse to the RET protooncogene by generearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. A nonconventional nuclearlocalization sequence (NLS) has been found for this protein which suggests a role in DNA replication via theprotein 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. (providedby RefSeq, Jan 2013)
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