VANGL1

Cilia effects upon perturbation of VANGL1

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (z=2.51) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:

hyperplasia, preweaning lethality, incomplete penetrance, thrombocytosis, extramedullary hemopoiesis, increased mean corpuscular hemoglobin, process of degenerative change

Mouse ciliopathy phenotype:

increased circulating aspartate transamise level

Human ciliopathy phenotype:

familial caudal dysgenesis

Subcellular localization

cilia associated gene

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation

Function

Live imaging in Xenopus reveals that Pk2, a cytoplasmic effector of the PCP pathway, controls the directio l ciliary beating in multiciliated cells by regulating Vangl1 dy mics at the cell cortex ( 26293301).