PAK3 Recombinant Rabbit Monoclonal Antibody [JE57-39]

Function

The protein encoded by this gene is a serine-threonine kinase and forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1. Serine/threonine protein kinase that plays a role in a variety of different signaling pathways including cytoskeleton regulation, cell migration, or cell cycle regulation. Plays a role in dendrite spine morphogenesis as well as synapse formation and plasticity. Acts as downstream effector of the small GTPases CDC42 and RAC1. Activation by the binding of active CDC42 and RAC1 results in a conformational change and a subsequent autophosphorylation on several serine and/or threonine residues. Phosphorylates MAPK4 and MAPK6 and activates the downstream target MAPKAPK5, a regulator of F-actin polymerization and cell migration. Additionally, phosphorylates TNNI3/troponin I to modulate calcium sensitivity and relaxation kinetics of thin myofilaments. May also be involved in early neuronal development. This protein may be necessary for dendritic development and for the rapid cytoskeletal reorganization in dendritic spines associated with synaptic plasticity. Defects in this gene are the cause of a non-syndromic form of X-linked intellectual disability. Alternatively spliced transcript variants encoding different isoforms have been identified.

Background References

1. Duarte K. et. al. PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration. Neurobiol Dis. 2020 Mar

2. Iida A. et. al. A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature. Cold Spring Harb Mol Case Stud. 2019 Dec

Subcellular Location

Cytoplasm.

UNIPROT

SwissProt: O75914 Human

SwissProt: Q61036 Mouse

SwissProt: Q62829 Rat

Synonyms