PRKACB

The protein encoded by this gene is a member of the serine/threonine protein kinase family. The encoded protein is a catalytic subunit of cAMP (cyclic AMP)-dependent protein kinase, which mediates signalling though cAMP. cAMP signaling is important to a number of processes, including cell proliferaton and differentiation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed.

Full Name

protein kinase cAMP-activated catalytic subunit beta

Function

Mediates cAMP-dependent signaling triggered by receptor binding to GPCRs. PKA activation regulates diverse cellular processes such as cell proliferation, the cell cycle, differentiation and regulation of microtubule dynamics, chromatin condensation and decondensation, nuclear envelope disassembly and reassembly, as well as regulation of intracellular transport mechanisms and ion flux. Regulates the abundance of compartmentalized pools of its regulatory subunits through phosphorylation of PJA2 which binds and ubiquitinates these subunits, leading to their subsequent proteolysis (PubMed:12420224, PubMed:21423175).
Phosphorylates GPKOW which regulates its ability to bind RNA (PubMed:21880142).

Biological Process

Adenylate cyclase-modulating G protein-coupled receptor signaling pathwayManual Assertion Based On ExperimentTAS:UniProtKB
High-density lipoprotein particle assemblyTAS:Reactome
Negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterningIEA:Ensembl
Neural tube closureIEA:Ensembl
Protein kinase A signalingManual Assertion Based On ExperimentIBA:GO_Central
Protein phosphorylationManual Assertion Based On ExperimentIDA:UniProtKB
Regulation of protein processingIEA:Ensembl
Renal water homeostasisTAS:Reactome
Signal transductionManual Assertion Based On ExperimentTAS:ProtInc

Cellular Location

Cytoplasm
Cell membrane
Membrane
Nucleus
Translocates into the nucleus (monomeric catalytic subunit). The inactive holoenzyme is found in the cytoplasm.

Involvement in disease

Cardioacrofacial dysplasia 2 (CAFD2):
An autosomal dominant disease characterized by dysmorphic facial features, congenital cardiac defects, primarily common atrium or atrioventricular septal defect, and limb anomalies, including short limbs, brachydactyly and postaxial polydactyly. CAFD2 patients may show developmental delay of variable severity, intellectual disability, autistic features and focal seizures.

PTM

Asn-3 is partially deaminated to Asp giving rise to 2 major isoelectric variants, called CB and CA respectively.