CEP83

Cilia effects upon perturbation of CEP83

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Longer cilia

Ciliogenesis screen results (2 screens)

• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-5.46) PMID:29459680
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=166, lfc=-2.71) PMID:30270045

Phenotypes

Mouse phenotype:

preweaning lethality, complete penetrance, embryonic lethality prior to tooth bud stage, embryonic growth retardation, abnormal pericardium morphology, abnormal embryo size, edema

Human ciliopathy phenotype:

nephronophthisis; nephronophthisis 18

Ciliopathy associations

• Joubert Syndrome
• Nephronophthisis
• Orofaciodigital Syndrome
• Retinal Dystrophy/Degeneration

Subcellular localization

basal body, centrosome

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation

Function

Recruitment of distal appendages proteins like SCLT1 and CEP89 (23348840). CEP83 phosphorylation mediated by TTBK2, regulates docking of membrane vesicles to mother centrioles, promoting CP110 removal and cilia initiation. Mutation have been associated with infantile nephronophthisis (31455668).