CPLANE1
ciliogenesis and planar polarity effector complex subunit 1
- Ensembl:
- ENSG00000197603
- UniProt:
- Q9H799
- OMIM:
- 614571
- Synonyms:
- C5ORF42, FLJ13231, HUG, JBTS17
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
- Joubert Syndrome
- Orofaciodigital Syndrome
- Biliary Atresia
Subcellular localization
transition zone
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 sig ling and for establishing cell polarity (25877302).