ASNSD1

Cilia effects upon perturbation of ASNSD1

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.97) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Ciliopathy associations

• Medulloblastoma

Subcellular localization

cilia associated gene, cytosol

Functional category

• Metabolism; Ciliary assembly/disassembly

Function

ASNSD1 contributes to cell physiology mainly through its uORF-encoded microprotein ASDURF, which is an integral subunit of the PAQosome prefoldin-like module. Because this chaperone system participates in folding and assembly of proteins required for cilia formation, maintenance, and motility, alterations in ASNSD1/ASDURF may influence ciliary biology. Therefore, ASNSD1 and ASDURF represent emerging ciliary gene candidates, with increasing evidence connecting PAQosome dysfunction to ciliopathies(PMID: 38176414, PMID: 31738558).