ORC1

Cilia effects upon perturbation of ORC1

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (z=2.33) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=152, lfc=-3.28) PMID:30270045

Phenotypes

Mouse phenotype:

increased lean body mass, preweaning lethality, complete penetrance, increased bone mineral content, embryonic lethality prior to organogenesis, increased bone mineral density, decreased total body fat amount, pretal lethality prior to heart atrial septation, increased grip strength

Subcellular localization

basal body, cilia, cytosol, nucleus

Functional category

• Ciliary assembly/disassembly
• Metabolism

Function

Mutations are associated with Seckel syndrome and/or Meier-Gorlin syndrome (23516378). Knockdown affects ciliogenesis and Hh sig ling. It prevents reduplication events that could lead to supernumerary centrioles, which has been associated with cilia defects (30696958).

Model organism evidence