PIBF1

Cilia effects upon perturbation of PIBF1

Cilia number / % ciliated:

Decrease

Loss-of-function effect:

Decrease

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-8.60) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-3.34) PMID:29459680
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=493, lfc=-2.42) PMID:30270045

Phenotypes

Mouse phenotype:

abnormal sleep behavior, abnormal embryo size, embryonic lethality prior to tooth bud stage, abnormal heart looping, embryonic growth retardation, preweaning lethality, complete penetrance, abnormal neural tube morphology

Mouse ciliopathy phenotype:

increased heart weight, abnormal embryo turning, abnormal heart morphology, increased circulating bilirubin level, abnormal neural tube closure

Human ciliopathy phenotype:

Joubert syndrome; Joubert syndrome 33

Ciliopathy associations

• Joubert Syndrome

Subcellular localization

basal body, centrosome

Functional category

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

Function

Also known as CEP90. Centriolar satelite protein required for centrosome protein recruitment, centrosomal accumulation of PCM-1 and primary cilia formation, as well as BBS4 recruitment and localisation to the cilium (23110211). Mutations have been identified as cause of the ciliopathies Joubert and Jeune syndromes (26167768). Pibf1 mouse mutants exhibit craniofacial anomalies, semilobar holoprosencephaly, and aberrant Shh/FGF8 signaling. PIBF1 essential for ciliogenesis; cilia defects underlie GLI3 processing abnormalities.

Model organism evidence