PRKACB

Chr 1p31.1

protein kinase cAMP-activated catalytic subunit beta

Aliases:: PKACb
MANE:: ENST00000370685.7

OMIM: 176892 ↗NCBI: 5567 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PRKACB · P22694

v62025-08-01

Predicted Aligned Error matrix for PRKACB — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

95.2/ 100

Very high

351 residues

Confidence breakdown

Very high(≥ 90)94%
Confident(70–90)2%
Low(50–70)3%
Very low(< 50)1%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal ciliopathies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

cardioacrofacial dysplasia 2
0.75
Ellis-van Creveld syndrome
0.37
Ellis Van Creveld syndrome
0.37
hereditary disease
0.19
non-small cell lung carcinoma
0.08
plasma fibronectin deficiency
0.07
gastric cancer
0.06
acute myeloid leukemia
0.06
colorectal carcinoma
0.06
melanoma
0.05

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

cAMP-dependent protein kinase catalytic subunit beta

Mediates cAMP-dependent signaling triggered by receptor binding to GPCRs (PubMed:12420224, PubMed:21423175, PubMed:31112131). 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 (PubMed:12420224, PubMed:21423175). 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). Acts as a negative regulator of mTORC1 by mediating phosphorylation of RPTOR (PubMed:31112131)