PAK3

Chr Xq23

p21 (RAC1) activated kinase 3

Aliases:: hPAK3, bPAK
MANE:: ENST00000372007.10

OMIM: 300142 ↗NCBI: 5063 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

PAK3 · O75914

v62025-08-01

Predicted Aligned Error matrix for PAK3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

72.4/ 100

Confident

559 residues

Confidence breakdown

Very high(≥ 90)43%
Confident(70–90)18%
Low(50–70)6%
Very low(< 50)34%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

X-linked non-syndromic intellectual disability
0.73
hereditary disease
0.47
Intellectual disability
0.46
Agenesis of corpus callosum
0.37
X-linked syndromic intellectual disability
0.37
complex neurodevelopmental disorder
0.37
microcephaly
0.34
lung carcinoma
0.09
gastric cancer
0.08
lung cancer
0.08

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

Protein function (UniProt)

Serine/threonine-protein kinase PAK 3

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)