CEP89
centrosomal protein 89
- Ensembl:
- ENSG00000121289
- UniProt:
- Q96ST8
- OMIM:
- 615470
- Synonyms:
- CCDC123, FLJ14640
Cilia effects upon perturbation of CEP89
- Cilia number / % ciliated:
- No effect
- Loss-of-function effect:
- No effect
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:
- decreased bone mineral content, abnormal cholesterol homeostasis, decreased thigmotaxis, increased total body fat amount, decreased lean body mass, abnormal behavior, decreased bone mineral density
Subcellular localization
basal body, centrosome, cilia, cytosol, mitochondria
Functional category
- Ciliary assembly/disassembly
Function
Also calles CEP13 and CCDC123. Assembly of primary cilium and membrane docking (23348840). It interacts with the centriolar satellite proteins PCM-1 and OFD1 for cilia formation, and with Cep290 for the recruitment of membranes to the centrosome. CEP123 is required for the formation of a ciliary vesicle at the distal end of the mother centriole during primary ciliogenesis (23789104)
Model organism evidence
Mus musculus (1 reference)
Transition zone proteins AHI1 and NPHP1 were abnormally restricted to the proximal connecting cilium in the absence of CEP290, while others like NPHP8 and CEP89 were u
PMIDs: 39896654