CEP135
centrosomal protein 135
- Ensembl:
- ENSG00000174799
- UniProt:
- Q66GS9
- OMIM:
- 611423
- Synonyms:
- CEP4, FLJ13621, KIAA0635
Cilia effects upon perturbation of 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
- Mouse ciliopathy phenotype:
- polydactyly, abnormal head shape, microphthalmia, cataract, abnormal lens morphology
Subcellular localization
basal body, centrosome, cilia, cytosol, microtubules
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)
Model organism evidence
To date, mutation in Cep135 has been reported to be closely associated with multiple morphological abnormalities of the flagella (MMAF) in h
CP110 is a tip protein controlling ciliogenesis, and CEP135 is a centriole-specific structural protein in the centriole base of canonical centrioles found in most cell types.
A phylogenetic profiling approach identifies novel ciliogenesis genes in Drosophila and C.
PMIDs: 37317646
A phylogenetic profiling approach identifies novel ciliogenesis genes in Drosophila and C.
PMIDs: 37317646