EP300

E1A binding protein p300

Ensembl:
ENSG00000100393
UniProt:
Q09472
OMIM:
602700
Synonyms:
KAT3B, P300

Cilia effects upon perturbation of EP300

Ciliogenesis screen results (4 screens)

  • Kim2016: No effect
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.09) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (robust z=2.12, ciliated=53.8%) PMID:26595381

Ciliopathy associations

  • Cornelia de Lange Syndrome

Subcellular localization

nucleoplasm

Functional category

  • Motile cilium & axoneme

Function

Mutations in EP300 cause Cornelia de Lange Syndrome (PMID: 37377026).