CDC42BPB
Function
Serine/threonine-protein kinase which is an important downstream effector of CDC42 and plays a role in the regulation of cytoskeleton reorganization and cell migration. Regulates actin cytoskeletal reorganization via phosphorylation of PPP1R12C and MYL9/MLC2 (PubMed:21457715, PubMed:21949762). In concert with MYO18A and LURAP1, is involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration (PubMed:18854160). Phosphorylates PPP1R12A (PubMed:21457715). In concert with FAM89B/LRAP25 mediates the targeting of LIMK1 to the lamellipodium resulting in its activation and subsequent phosphorylation of CFL1 which is important for lamellipodial F-actin regulation (By similarity).
Involvement in disease
Chilton-Okur-Chung neurodevelopmental syndrome
CHOCNS
A disorder characterized by developmental delay, intellectual disability, hypotonia, and structural brain abnormalities including cerebellar vermis hypoplasia and agenesis or hypoplasia of the corpus callosum. Most patients have behavioral abnormalities, including autism spectrum disorder, attention deficit and hyperactivity disorder, and aggression. About half of patients have dysmorphic facial features. Rare involvement of other organ systems may be present.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Proteolytically cleaved by caspases upon apoptosis induction.
Sequence Similarities
Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. DMPK subfamily.
Tissue Specificity
Expressed in all tissues examined, with high levels in heart, brain, placenta and lung.
Cellular localization
- Cytoplasm
- Cell membrane
- Peripheral membrane protein
- Cytoplasmic side
- Cell junction
- Cell projection
- Lamellipodium
- Displays a dispersed punctate distribution and concentrates along the cell periphery, especially at the leading edge and cell-cell junction. This concentration is PH-domain dependent (By similarity). Detected at the leading edge of migrating cells. Localization at the leading edge of migrating cells requires interaction with catalytically active CDC42 (PubMed:21240187). Localizes in the lamellipodium in a FAM89B/LRAP25-dependent manner (By similarity).
Alternative names
KIAA1124, CDC42BPB, Serine/threonine-protein kinase MRCK beta, CDC42-binding protein kinase beta, DMPK-like beta, Myotonic dystrophy kinase-related CDC42-binding kinase beta, CDC42BP-beta, MRCK beta, Myotonic dystrophy protein kinase-like beta