DDB1

damage specific DNA binding protein 1

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000167986
UniProt:
Q16531
OMIM:
600045

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

Subcellular localization

basal body, nucleus

References: PMID:28242748

Functional category

  • Ciliary assembly/disassembly
  • Reproduction & sperm
  • Viral interactions

Function

CEP78 interacts with the EDD1-DYRK2-DDB1VPRBP E3 ubiquitin ligase complex, which is involved in CP110 ubiquitination 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‐DYRK2‐DDB1Vpr BP (28242748)