DDB1

Cilia effects upon perturbation of DDB1

Ciliogenesis screen results (4 screens)

• Kim2016: No effect
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-14.02) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: Joubert Candidate / Ciliogenesis Defect (robust z=-2.41, ciliated=19.2%) PMID:26595381

Phenotypes

Mouse phenotype:

abnormal thymus morphology, enlarged thymus, abnormal skin morphology, hyperactivity, embryonic lethality prior to organogenesis, enlarged uriry bladder

Mouse ciliopathy phenotype:

abnormal uriry bladder morphology

Subcellular localization

basal body, nucleus

Functional category

• Ciliary assembly/disassembly
• T cell biology
• Reproduction & sperm
• Viral interactions

Function

CEP78 interacts with the EDD1-DYRK2-DDB1VPRBP E3 ubiquitin ligase complex, which is involved in CP110 ubiquiti tion and degradation, and identified a novel interaction between CEP78 and CEP350 that is weakened by the CEP78L150S mutation(34259627). Cep78 controls centrosome homeostasis by inhibiting EDD鈥怐YRK2鈥怐DB1Vpr BP (28242748)