DYNC1LI1

Cilia effects upon perturbation of DYNC1LI1

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.53) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

mydriasis, enlarged lymph nodes, enlarged prostate gland, small heart, abnormal semil vesicle morphology, increased red blood cell distribution width, abnormal lung morphology, abnormal skin morphology, preweaning lethality, incomplete penetrance, hypoplasia

Mouse ciliopathy phenotype:

microphthalmia, small kidney, abnormal sternum morphology, abnormal testis morphology, abnormal liver morphology

Subcellular localization

basal body, centrosome

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• Viral interactions
• Signaling (Hedgehog, GPCRs, ion channels)

Function

Expression of a DLIC-1-binding truncation mutant of FIP3 disrupts the ability of ERC proteins to accumulate pericentrosomally (expression of a DLIC-1-binding truncation mutant of FIP3 disrupts the ability of ERC proteins to accumulate pericentrosomally.).

Model organism evidence