CPLANE1

Cilia effects upon perturbation of CPLANE1

Cilia number / % ciliated:

Decreased cilia number

Phenotypes

Mouse phenotype:

preweaning lethality, complete penetrance, abnormal eye morphology

Human ciliopathy phenotype:

Joubert syndrome 17; Joubert syndrome with orofaciodigital defect; Joubert syndrome; Joubert syndrome and related disorders; Joubert syndrome 1

Ciliopathy associations

• Biliary Atresia
• Joubert Syndrome
• Orofaciodigital Syndrome

References: PMID:22425360, PMID:24178751, PMID:41405813, PMID:37572794

Subcellular localization

transition zone

References: PMID:29321670, PMID:31004438, PMID:25877302

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Transition zone

Function

Also known as JBTS17. Most common mutated gene in Joubert syndrome and the related oral-facial-digital syndrome type VI (OFDVI). (29321670). JBTS17 contributes to mitotic progression by interacting with LIS1, its depletion disrupts chromosome alignment and spindle pole orientation, resulting in mitotic delay (31004438). JBTS17 acts upstream of NPHP1 in the assembly of the NPHP1-4-8 complex in the cilia transition zone, it is required for efficient SHH signaling and for establishing cell polarity (25877302).