protein kinase cAMP-dependent type I regulatory subunit alpha
Location:
17q24.2
Also known as:
PRKAR1, TSE1, CNC1
Entrez ID:
5573
Ensembl ID:
ENSG00000108946
Summary:
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]
Overall distribution
Tissue specific distribution
Overall distribution
Tissue specific distribution
Gscore (Amp):
0.87 (Driver)
Gscore (Del):
0.00
Recurrently amplified in 4 cancer type(s)
Overall distribution
Tissue specific distribution
Mscore:
0.11 (Driver)
Recurrently mutated in 1 cancer type(s)
Overall
Tissue specific
Total fusion occurrence:
3
Fusions detected in 3 cancer type(s)
Overall
Tissue specific
RNAi: STRONGLY SELECTIVE
Functional class:
Enzyme
JensenLab PubMed score:
257.37 (Percentile rank: 84.48%)
PubTator score:
263.19 (Percentile rank: 88.50%)
Target development/druggability level:
TbioThese targets do not have known drug or small molecule activities that satisfy the activity thresholds detailed below AND satisfy one or more of the following criteria: 1) target is above the cutoff criteria for Tdark; 2) target is annotated with a Gene Ontology Molecular Function or Biological Process leaf term(s) with an Experimental Evidence code.
Tractability (small molecule):
Discovery PrecedenceTargets with ligands; Targets with crystal structures with ligands
Tractability (antibody):
Predicted Tractable - High confidenceTargets located in the plasma membrane; Targets with GO cell component terms plasma membrane or secreted
