Structural highlights
Disease
[CP135_HUMAN] Autosomal recessive primary microcephaly. The disease is caused by mutations affecting the gene represented in this entry.
Function
[CP135_HUMAN] Centrosomal protein involved in centriole biogenesis. Acts as a scaffolding protein during early centriole biogenesis. Required for the targeting of centriole satellite proteins to centrosomes such as of PCM1, SSX2IP and CEP290 and recruitment of WRAP73 to centrioles. Also required for centriole-centriole cohesion during interphase by acting as a platform protein for CEP250 at the centriole.[1] [2] [3]
References
- ↑ Kleylein-Sohn J, Westendorf J, Le Clech M, Habedanck R, Stierhof YD, Nigg EA. Plk4-induced centriole biogenesis in human cells. Dev Cell. 2007 Aug;13(2):190-202. PMID:17681131 doi:http://dx.doi.org/10.1016/j.devcel.2007.07.002
- ↑ Kim K, Lee S, Chang J, Rhee K. A novel function of CEP135 as a platform protein of C-NAP1 for its centriolar localization. Exp Cell Res. 2008 Dec 10;314(20):3692-700. doi: 10.1016/j.yexcr.2008.09.016., Epub 2008 Oct 1. PMID:18851962 doi:http://dx.doi.org/10.1016/j.yexcr.2008.09.016
- ↑ Kurtulmus B, Wang W, Ruppert T, Neuner A, Cerikan B, Viol L, Duenas-Sanchez R, Gruss OJ, Pereira G. WDR8 is a centriolar satellite and centriole-associated protein that promotes ciliary vesicle docking during ciliogenesis. J Cell Sci. 2016 Feb 1;129(3):621-36. doi: 10.1242/jcs.179713. Epub 2015 Dec 16. PMID:26675238 doi:http://dx.doi.org/10.1242/jcs.179713