KIAA0753

Cilia effects upon perturbation of KIAA0753

Cilia number / % ciliated:

Decreased cilia number

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=-2.85) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=688, lfc=-1.83) PMID:30270045

Phenotypes

Mouse phenotype:

embryonic lethality prior to organogenesis, hyperactivity, preweaning lethality, complete penetrance, embryonic lethality prior to tooth bud stage

Mouse ciliopathy phenotype:

increased heart weight

Human ciliopathy phenotype:

Joubert syndrome; short-rib thoracic dysplasia 21 without polydactyly; Joubert syndrome with orofaciodigital defect; Joubert syndrome 38

Ciliopathy associations

• Joubert Syndrome
• Orofaciodigital Syndrome
• Short-Rib Thoracic Dysplasia
• Skeletal Ciliopathy

Subcellular localization

basal body, centrosome, cilia

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation

Function

Mutated cause impaired ciliogenesis and result in Joubert Syndrome. Regulates centriole duplication positively by recruiting CDK2 to the centrosome, as well as WDR62 to the pericentriolar complex, which in turn recruits CEP63, interacts with CEP63, and regulate CEP63 level at the centrosome(28220259, 24613305). Also cause skeletal ciliopathies (31816441, 29138412). Cilia formation in primary fibroblasts from patients was significantly lower than in controls (Genomicsengland)