TAOK1

Serine/threonine-protein kinase involved in various processes such as p38/MAPK14 stress-activated MAPK cascade, DNA damage response and regulation of cytoskeleton stability. Phosphorylates MAP2K3, MAP2K6 and MARK2. Acts as an activator of the p38/MAPK14 stress-activated MAPK cascade by mediating phosphorylation and subsequent activation of the upstream MAP2K3 and MAP2K6 kinases. Involved in G-protein coupled receptor signaling to p38/MAPK14. In response to DNA damage, involved in the G2/M transition DNA damage checkpoint by activating the p38/MAPK14 stress-activated MAPK cascade, probably by mediating phosphorylation of MAP2K3 and MAP2K6. Acts as a regulator of cytoskeleton stability by phosphorylating 'Thr-208' of MARK2, leading to activate MARK2 kinase activity and subsequent phosphorylation and detachment of MAPT/TAU from microtubules. Also acts as a regulator of apoptosis: regulates apoptotic morphological changes, including cell contraction, membrane blebbing and apoptotic bodies formation via activation of the MAPK8/JNK cascade. Plays an essential role in the regulation of neuronal development in the central nervous system (PubMed:33565190). Also plays a role in the regulation of neuronal migration to the cortical plate (By similarity).

Developmental delay with or without intellectual impairment or behavioral abnormalities

DDIB

An autosomal dominant disorder characterized by a highly variable phenotype of developmental delay, intellectual disability, learning or behavioral problems, muscular hypotonia, and neonatal feeding difficulties.

None

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

Proteolytically processed by caspase-3 (CASP3).

Autophosphorylated (By similarity). Phosphorylated by ATM in response to DNA damage. Phosphorylated by LRRK2.

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

Highly expressed in the testis, and to a lower extent also expressed in brain, placenta, colon and skeletal muscle.

• Cytoplasm

KIAA1361, MAP3K16, MARKK, TAOK1, Serine/threonine-protein kinase TAO1, Kinase from chicken homolog B, MARK Kinase, Prostate-derived sterile 20-like kinase 2, Thousand and one amino acid protein kinase 1, hKFC-B, PSK-2, PSK2, Prostate-derived STE20-like kinase 2, hTAOK1

• entrezGene:57551
• omim:610266
• swissprot:Q7L7X3

Proteins

Epigenetics

116070Da