HUWE1

Cilia effects upon perturbation of HUWE1

Cilia number / % ciliated:

Incrased cilia number

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-7.05) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-2.97) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:

intellectual disability, X-linked syndromic, Turner type; X-linked intellectual disability, Turner type

Subcellular localization

cilia associated gene

Functional category

• Ciliary assembly/disassembly

Function

Mechanistically, we identify HUWE1 as a novel centrosomal E3 ligase that facilitates primary cilia disassembly by targeting TTBK2 degradation. To probe the function of HUWE1, the researchers used a specific chemical inhibitor named BI8622. Inhibiting HUWE1 with this molecule prevented the degradation of TTBK2, which in turn stabilized the cilia and increased the number of ciliated cells. (38879724)