USP48

ubiquitin specific peptidase 48

Ensembl:
ENSG00000090686
UniProt:
Q86UV5
OMIM:
617445
Synonyms:
FLJ11328, FLJ20103, FLJ23054, FLJ23277, MGC14879

Cilia effects upon perturbation of USP48

Cilia number / % ciliated:
No effect
Loss-of-function effect:
No effect
Overexpression effect:
Decreased

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.16) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Subcellular localization

basal body, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Endogenous USP48 localises to the basal body in reti l cells and provide data that supports the function of USP48 in the photoreceptor cilium. USP48 interacts with the IRD-associated proteins ARL3 and UNC119a, and stabilise their protein levels using different mechanisms.