CEP135

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

increased circulating total protein level, decreased bone mineral density, facial cleft, preweaning lethality, complete penetrance, abnormal head morphology, decreased circulating serum albumin level, abnormal craniofacial morphology, anophthalmia, edema

Subcellular localization

basal body, centrosome, cilia, cytosol, microtubules

References: PMID:27477386, PMID:26595382, PMID:23810536, PMID:23115304, PMID:22898782, PMID:22521416

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Protein processing & maturation

Function

CEP135/Bld10 promotes the assembly and stability of the centriolar microtubule wall. Induces the formation of protofilament-based ring-like structures, binding directly to tubulin, protofilaments, and (27477386). Required for centriole conversion to centrosome (26595382). Plays an important role in the assembly of centriole/basal bodies and stabilisation of , maintaining basal body integrity (23810536, 23115304, 22898782). Knockdown of CEP135 leads to disorganised interphase and mitotic spindle (22521416)