RPGR

retinitis pigmentosa GTPase regulator

Ensembl:
ENSG00000156313
UniProt:
Q92834
OMIM:
312610
Synonyms:
COD1, CORDX1, CRD, RP15, RP3

Cilia effects upon perturbation of RPGR

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia
Overexpression effect:
Increased

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-7.70) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:
retinitis pigmentosa; Primary ciliary dyskinesia - retinitis pigmentosa; X-linked cone-rod dystrophy 1; primary ciliary dyskinesia; retinitis pigmentosa 3; X-linked cone-rod dystrophy; cone-rod dystrophy

Ciliopathy associations

  • Cone-Rod Dystrophy
  • Retinal Dystrophy/Degeneration

Subcellular localization

basal body, centrosome, cilia

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Reproduction & sperm
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Role in regulation of scent disc formation in photoreceptor cilium, by regulating actin-mediated membrane extension. Absence of RPGR impaired ciliogenesis and cell attachment (21933838). Mutations cause type 3 retinis pigmentosa (8673101). RPGR is suggested to regulate cilia function and facilitate the trafficking of proteins along the photoreceptor cilium. Interacts withciliary proteins, such as RPGRIP1, IQCB1, CEP290 and RPGRIP1L, as well as Rab8a (20631154).

Model organism evidence

Mus musculus (1 reference)

The present review summarizes the clinical phenotypes and pathogenic mechanisms associated with RPGR mutations, focusing on their disruption of ciliary transport and metabolic homeostasis.

PMIDs: 41480687

Danio rerio (2 references)

The present review summarizes the clinical phenotypes and pathogenic mechanisms associated with RPGR mutations, focusing on their disruption of ciliary transport and metabolic homeostasis.

Previous research mainly focused on the role of RPGR in the connecting cilia of photoreceptors.

PMIDs: 41480687, 41288322