NUP205

Cilia effects upon perturbation of NUP205

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (3 screens)

• Kim2016: Not Reported
• Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:

increased circulating cholesterol level, increased total body fat amount, preweaning lethality, complete penetrance, decreased lean body mass

Subcellular localization

nucleus, transition zone

Functional category

• Ciliary assembly/disassembly
• Metabolism
• T cell biology
• Viral interactions
• Cardiac & muscle development
• Transition zone
• Transcription regulation

Function

Encodes a protein of the inner ring of the nuclear pore complex. Implicated as causes of steroid resistant nephrotic syndrome. When knocked down in Xenopus, Nup205 depletion results in loss of cilia and abnormal cardiac morphology, and mispositioning of intracellular ciliary structures such as basal bodies and rootlets (33065118). Downregulated in NEK3-/- patients who are predisposed to cilia-related abnormal cardiac left-right patterning

Model organism evidence