DDX6

Cilia effects upon perturbation of DDX6

Ciliogenesis screen results (5 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-1.77) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=651, lfc=-1.79) PMID:30270045

Phenotypes

Mouse phenotype:

abnormal neural tube morphology, inflammation, decreased startle reflex, preweaning lethality, complete penetrance, hyperplasia, embryonic lethality prior to organogenesis, pretal lethality prior to heart atrial septation, dysplasia, increased mean corpuscular volume, increased circulating total protein level, increased mean corpuscular hemoglobin, abnormal skin morphology

Mouse ciliopathy phenotype:

abnormal embryo turning, abnormal liver morphology, abnormal kidney morphology

Human ciliopathy phenotype:

Intellectual disability

Subcellular localization

cilia associated gene, cytosol, p-body

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Metabolism
• Viral interactions

Function

CCHCR1 recruits P-body proteins to the centrosome through interacting with EDC4 via its N-terminal coiled-coil domain. Depletion of either CCHCR1 or P-body components EDC4 and DEAD-Box Helicase 6 (DDX6) impairs ciliogenesis(PMID: 40883668).

Model organism evidence