PRKAR1A

PRKAR1A
Identifiers
Aliases	PRKAR1A, ACRDYS1, ADOHR, CAR, CNC, CNC1, PKR1, PPNAD1, PRKAR1, TSE1, protein kinase cAMP-dependent type I regulatory subunit alpha
External IDs	OMIM: 188830; MGI: 104878; GeneCards: PRKAR1A
Gene location (Human) Chr. Chromosome 17 (human) Band 17q24.2 Start 68,511,780 bp End 68,551,319 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11 E1|11 72.33 cM Start 109,540,231 bp End 109,560,482 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of paranasal sinus germinal epithelium lateral nuclear group of thalamus bronchial epithelial cell epithelium of nasopharynx Epithelium of choroid plexus superficial temporal artery pars compacta pars reticulata caput epididymis Top expressed in arcuate nucleus ventral tegmental area dorsomedial hypothalamic nucleus paraventricular nucleus of hypothalamus median eminence cingulate gyrus ventromedial nucleus mammillary body subiculum anterior amygdaloid area More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding protein kinase A catalytic subunit binding cAMP binding protein binding cAMP-dependent protein kinase regulator activity cAMP-dependent protein kinase inhibitor activity ubiquitin protein ligase binding protein domain specific binding 3',5'-cyclic-GMP phosphodiesterase activity kinase activity Cellular component cytoplasm cytosol membrane plasma membrane raft neuromuscular junction plasma membrane ciliary base nucleotide-activated protein kinase complex immunological synapse cAMP-dependent protein kinase complex axoneme protein-containing complex synapse glutamatergic synapse Biological process regulation of protein phosphorylation activation of protein kinase A activity intracellular signal transduction negative regulation of protein kinase activity regulation of transcription by RNA polymerase II cellular response to glucagon stimulus mesoderm formation blood coagulation female meiotic nuclear division negative regulation of meiotic nuclear division cardiac muscle cell proliferation negative regulation of cAMP-dependent protein kinase activity negative regulation of activated T cell proliferation development of the heart renal water homeostasis regulation of protein kinase activity sarcomere organization cGMP-mediated signaling phosphorylation Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 5573 19084 Ensembl ENSG00000108946 ENSMUSG00000020612 UniProt P10644 Q9DBC7 RefSeq (mRNA) NM_001276289 NM_001276290 NM_001278433 NM_002734 NM_212471 NM_212472 NM_001369389 NM_001369390 NM_021880 NM_001313973 NM_001313974 NM_001313975 NM_001313976 NM_001362677 NM_001373912 NM_001373913 RefSeq (protein) NP_001263218 NP_001263219 NP_001265362 NP_002725 NP_997636 NP_997637 NP_001356318 NP_001356319 NP_001263218.1 NP_001265362.1 NP_002725.1 NP_997636.1 NP_997637.1 NP_001300902 NP_001300903 NP_001300904 NP_001300905 NP_068680 NP_001349606 NP_001360841 NP_001360842 Location (UCSC) Chr 17: 68.51 – 68.55 Mb Chr 11: 109.54 – 109.56 Mb PubMed search
Wikidata
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cAMP-dependent protein kinase type I-alpha regulatory subunit is an enzyme that in humans is encoded by the PRKAR1A gene.

Function

cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase A (PKA), which transduces the signal through phosphorylation of different target proteins. The inactive holoenzyme of PKA 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 of PKA have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that downregulates the expression of seven liver genes in hepatoma x fibroblast hybrids Three alternatively spliced transcript variants encoding the same protein have been observed.

Clinical significance

Functional null mutations in this gene cause Carney complex (CNC), an autosomal dominant multiple neoplasia syndrome. This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2.

Mutation of PRKAR1A leads to the Carney complex, associating multiple endocrine tumors.^{[citation needed]}

Interactions

PRKAR1A has been shown to interact with:

See also

• cAMP-dependent protein kinase