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PAK3

Function

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 a 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. In hippocampal neurons, necessary for the formation of dendritic spines and excitatory synapses; this function is dependent on kinase activity and may be exerted by the regulation of actomyosin contractility through the phosphorylation of myosin II regulatory light chain (MLC) (By similarity).

Involvement in disease

Intellectual developmental disorder, X-linked 30

XLID30

A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic intellectual disability presents with associated physical, neurological and/or psychiatric manifestations.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Autophosphorylated when activated by CDC42/p21.

Neddylated.

Sequence Similarities

Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily.

Tissue Specificity

Restricted to the nervous system. Highly expressed in postmitotic neurons of the developing and postnatal cerebral cortex and hippocampus.

Cellular localization

Alternative names

OPHN3, PAK3, Serine/threonine-protein kinase PAK 3, Beta-PAK, Oligophrenin-3, p21-activated kinase 3, PAK-3

swissprot:O75914 entrezGene:5063 swissprot:Q13153 entrezGene:5062 omim:300142 omim:602590 swissprot:Q13177 entrezGene:5058 omim:605022