DISEASES

Disease-gene associations mined from literature

Literature associating TAOK1 and syndromic X-linked intellectual disability

TAOK1 [ENSP00000261716]

Thousand and one amino acid protein kinase 1; 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; Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily.

Synonyms:  TAOK1,  TAOK1p,  hTAOK1,  A0A024QZ70,  J3QS76 ...

Linkouts:  STRING  Pharos  UniProt  OMIM