DZIP1L

Cilia effects upon perturbation of DZIP1L

Cilia number / % ciliated:

No effect

Loss-of-function effect:

Decrease

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.33) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

anophthalmia, increased vertical activity, edema, abnormal embryo size, abnormal craniofacial morphology, hemorrhage, preweaning lethality, complete penetrance

Mouse ciliopathy phenotype:

abnormal head shape, polydactyly, microphthalmia, abnormal auditory brainstem response

Human ciliopathy phenotype:

kidney disease; polycystic kidney disease 5

Ciliopathy associations

• Autosomal Dominant Polycystic Kidney Disease
• Autosomal Recessive Polycystic Kidney Disease

Subcellular localization

cilia

Functional category

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

Function

Role in Hh sig ling and ciliogenesis. It promotes ciliary bud formation by removing Cp110 from the distal end of the mother centriole, and is required for the integrity of the transition zone as it is implicated in mainte nce of the periciliary diffusion barrier at the ciliary transition zone. Regulates the localisation of Cby to the appemdahes of mother centriole. (29487109, 28530676) DZIP1L modulates architecture and function of transition fibers (TFs), essential for selective cilia gating. DZIP-1 (C. elegans ortholog) localizes specifically to TFs. Synergistic role with ANKRD26 in TF assembly conserved in mammalian cilia.

Model organism evidence