USP48

ubiquitin specific peptidase 48

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000090686
UniProt:: Q86UV5
OMIM:: 617445
Synonyms:: FLJ11328, FLJ20103, FLJ23054, FLJ23277, MGC14879, USP31

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

References: PMID:36293380

Functional category

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

Function

Endogenous USP48 localises to the basal body in retinal 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.

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