Structural highlights
Disease
[TTBK2_HUMAN] Spinocerebellar ataxia type 11. The disease is caused by mutations affecting the gene represented in this entry.
Function
[TTBK2_HUMAN] Serine/threonine kinase that acts as a key regulator of ciliogenesis: controls the initiation of ciliogenesis by binding to the distal end of the basal body and promoting the removal of CCP110, which caps the mother centriole, leading to the recruitment of IFT proteins, which build the ciliary axoneme. Has some substrate preference for proteins that are already phosphorylated on a Tyr residue at the +2 position relative to the phosphorylation site. Able to phosphorylate tau on serines in vitro.[1] [2]
References
- ↑ Bouskila M, Esoof N, Gay L, Fang EH, Deak M, Begley MJ, Cantley LC, Prescott A, Storey KG, Alessi DR. TTBK2 kinase substrate specificity and the impact of spinocerebellar-ataxia-causing mutations on expression, activity, localization and development. Biochem J. 2011 Jul 1;437(1):157-67. doi: 10.1042/BJ20110276. PMID:21548880 doi:http://dx.doi.org/10.1042/BJ20110276
- ↑ Goetz SC, Liem KF Jr, Anderson KV. The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis. Cell. 2012 Nov 9;151(4):847-858. doi: 10.1016/j.cell.2012.10.010. PMID:23141541 doi:http://dx.doi.org/10.1016/j.cell.2012.10.010
