OFD1

Cilia effects upon perturbation of OFD1

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Longer cilia

Overexpression effect:

Unknown

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-16.31) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-4.24) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:

Joubert syndrome 10; Joubert syndrome; primary ciliary dyskinesia; Joubert syndrome with orofaciodigital defect; retinitis pigmentosa 23; retinitis pigmentosa

Ciliopathy associations

• Joubert Syndrome
• Orofaciodigital Syndrome
• Primary Ciliary Dyskinesia
• Retinal Dystrophy/Degeneration

Subcellular localization

centrosome, cilia, cytosol, microtubules, nucleus

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Protein processing & maturation
• Signaling (Hedgehog, GPCRs, ion channels)

Function

Associated with oral-facial- digital type I syndrome. Absence of the Ofd1 protein leads to basal body dysfunction, which in turn prevents the assembly of the primary cilium, and causes failure of left-right axis specification (16311594). It associates with the distal ends of centriolar to build distal appendages, recruit Ift88, and stabilise centriole length and regulate ciliogenesis (20230748). Its presence at the centriolar satellite suppresses primary ciliogenesis and removal of OFD1 by autophagy promotes it (24089205).

Model organism evidence