TAOK1
Description
The TAOK1 (TAO kinase 1) is a protein-coding gene located on chromosome 17.
TAOK1 (Thousand and one amino acid protein kinase 1) is a human gene that encodes a serine/threonine-protein kinase. Mutations in the TAOK1 gene cause developmental delay with or without intellectual impairment or behavioral abnormalities (DDIB), a condition first described in 2019.
TAOK1 is a serine/threonine-protein kinase involved in various cellular processes, including the p38/MAPK14 stress-activated MAPK cascade, DNA damage response, and regulation of cytoskeleton stability. It acts as an activator of the p38/MAPK14 cascade by phosphorylating and activating upstream MAP2K3 and MAP2K6 kinases, and is involved in G-protein coupled receptor signaling to p38/MAPK14. In response to DNA damage, TAOK1 participates in the G2/M transition DNA damage checkpoint by activating the p38/MAPK14 cascade, likely through phosphorylation of MAP2K3 and MAP2K6. It regulates cytoskeleton stability by phosphorylating Thr-208 of MARK2, leading to MARK2 activation and subsequent phosphorylation and detachment of MAPT/TAU from microtubules. TAOK1 also acts as a regulator of apoptosis, mediating apoptotic morphological changes like cell contraction, membrane blebbing, and apoptotic body formation through activation of the MAPK8/JNK cascade. It plays a crucial role in neuronal development in the central nervous system, and is involved in the regulation of neuronal migration to the cortical plate.
TAOK1 is also known as DDIB, KFC-B, MAP3K16, MARKK, PSK-2, PSK2, TAO1, hKFC-B, hTAOK1.
