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The Deubiquitinating Enzyme USP48 Interacts with the Retinal Degeneration-Associated Proteins UNC119a and ARL3

Sánchez-Bellver, Laura ; Férriz-Gordillo, Andrea ; Carrillo-Pz, Marc ; Rabanal, Laura LU orcid ; Garcia-Gonzalo, Francesc R and Marfany, Gemma (2022) In International Journal of Molecular Sciences 23(20).
Abstract

Proteins related to the ubiquitin-proteasome system play an important role during the differentiation and ciliogenesis of photoreceptor cells. Mutations in several genes involved in ubiquitination and proteostasis have been identified as causative of inherited retinal dystrophies (IRDs) and ciliopathies. USP48 is a deubiquitinating enzyme whose role in the retina is still unexplored although previous studies indicate its relevance for neurosensory organs. In this work, we describe that a pool of endogenous USP48 localises to the basal body in retinal cells and provide data that supports the function of USP48 in the photoreceptor cilium. We also demonstrate that USP48 interacts with the IRD-associated proteins ARL3 and UNC119a, and... (More)

Proteins related to the ubiquitin-proteasome system play an important role during the differentiation and ciliogenesis of photoreceptor cells. Mutations in several genes involved in ubiquitination and proteostasis have been identified as causative of inherited retinal dystrophies (IRDs) and ciliopathies. USP48 is a deubiquitinating enzyme whose role in the retina is still unexplored although previous studies indicate its relevance for neurosensory organs. In this work, we describe that a pool of endogenous USP48 localises to the basal body in retinal cells and provide data that supports the function of USP48 in the photoreceptor cilium. We also demonstrate that USP48 interacts with the IRD-associated proteins ARL3 and UNC119a, and stabilise their protein levels using different mechanisms. Our results suggest that USP48 may act in the regulation/stabilisation of key ciliary proteins for photoreceptor function, in the modulation of intracellular protein transport, and in ciliary trafficking to the photoreceptor outer segment.

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author
; ; ; ; and
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Humans, Proteasome Endopeptidase Complex/metabolism, Photoreceptor Cells/metabolism, Cilia/metabolism, Retinal Dystrophies, Ubiquitin/metabolism, Deubiquitinating Enzymes/metabolism, ADP-Ribosylation Factors/genetics, Ubiquitin-Specific Proteases/metabolism
in
International Journal of Molecular Sciences
volume
23
issue
20
article number
12527
publisher
MDPI AG
external identifiers
  • pmid:36293380
  • scopus:85140958373
ISSN
1422-0067
DOI
10.3390/ijms232012527
language
English
LU publication?
no
id
20e6a45d-f5e2-46fc-87e7-11766130bcc1
date added to LUP
2025-11-13 09:56:56
date last changed
2026-01-23 03:45:55
@article{20e6a45d-f5e2-46fc-87e7-11766130bcc1,
  abstract     = {{<p>Proteins related to the ubiquitin-proteasome system play an important role during the differentiation and ciliogenesis of photoreceptor cells. Mutations in several genes involved in ubiquitination and proteostasis have been identified as causative of inherited retinal dystrophies (IRDs) and ciliopathies. USP48 is a deubiquitinating enzyme whose role in the retina is still unexplored although previous studies indicate its relevance for neurosensory organs. In this work, we describe that a pool of endogenous USP48 localises to the basal body in retinal cells and provide data that supports the function of USP48 in the photoreceptor cilium. We also demonstrate that USP48 interacts with the IRD-associated proteins ARL3 and UNC119a, and stabilise their protein levels using different mechanisms. Our results suggest that USP48 may act in the regulation/stabilisation of key ciliary proteins for photoreceptor function, in the modulation of intracellular protein transport, and in ciliary trafficking to the photoreceptor outer segment.</p>}},
  author       = {{Sánchez-Bellver, Laura and Férriz-Gordillo, Andrea and Carrillo-Pz, Marc and Rabanal, Laura and Garcia-Gonzalo, Francesc R and Marfany, Gemma}},
  issn         = {{1422-0067}},
  keywords     = {{Humans; Proteasome Endopeptidase Complex/metabolism; Photoreceptor Cells/metabolism; Cilia/metabolism; Retinal Dystrophies; Ubiquitin/metabolism; Deubiquitinating Enzymes/metabolism; ADP-Ribosylation Factors/genetics; Ubiquitin-Specific Proteases/metabolism}},
  language     = {{eng}},
  month        = {{10}},
  number       = {{20}},
  publisher    = {{MDPI AG}},
  series       = {{International Journal of Molecular Sciences}},
  title        = {{The Deubiquitinating Enzyme USP48 Interacts with the Retinal Degeneration-Associated Proteins UNC119a and ARL3}},
  url          = {{http://dx.doi.org/10.3390/ijms232012527}},
  doi          = {{10.3390/ijms232012527}},
  volume       = {{23}},
  year         = {{2022}},
}