CEP89

centrosomal protein 89

Tier: Gold Standard Ciliary Genes

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

References: PMID:41005307, PMID:23348840, PMID:23789104

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)

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