CEP55
centrosomal protein 55
- Ensembl:
- ENSG00000138180
- UniProt:
- Q53EZ4
- OMIM:
- 610000
- Synonyms:
- C10ORF3, CT111, FLJ10540
Cilia effects upon perturbation of CEP55
- Cilia number / % ciliated:
- Incrased cilia number
- Loss-of-function effect:
- Longer cilia
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:
- preweaning lethality, incomplete penetrance, preweaning lethality, complete penetrance, abnormal ovary morphology, small uterus
- Mouse ciliopathy phenotype:
- small kidney, abnormal sternum morphology
- Human ciliopathy phenotype:
- multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
Ciliopathy associations
- Meckel-Gruber Syndrome
Subcellular localization
basal body, centrosome, transition zone
Functional category
- Ciliary assembly/disassembly
- Actin & cytoskeleton regulation
- Transition zone
Function
CEP55 has localized in basal body, transition zone.
Model organism evidence
Mus musculus (3 references)
However, they have enlarged apical membranes (called apical endfeet), longer primary cilia, and increased biciliation.
However, they have enlarged apical membranes (called apical endfeet), longer primary cilia, and increased bi-ciliation.