CEP350

Cilia effects upon perturbation of CEP350

Ciliogenesis screen results (1 screen)

• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

abnormal coat/hair pigmentation, abnormal vocalization, decreased grip strength

Subcellular localization

basal body, centrosome, microtubules, nucleus

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation

Function

Also calles CAP350. Facilitates the localization of CEP19 to the centriole (28659385). CEP250 is necessary for recruitment of FOP and provides a docking site for it at the centrosome. Both CEP250 and FOP form a complex and are required for anchoring to the centrosome (16314388). CEP350-FOP complex promotes recruitment of both the CEP19-RABL2B complex and TTBK2 to the mother centriole (28625565). Centriole growth is regulated by CAP350, which is also required early during the procentriole assembly process when the first microtubule is polymerised (19052644).

Model organism evidence