PRPF3

pre-mRNA processing factor 3

Ensembl:
ENSG00000117360
UniProt:
O43395
OMIM:
607301
Synonyms:
HPRP3, PRP3, RP18, SNRNP90

Cilia effects upon perturbation of PRPF3

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-6.70) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: Joubert Candidate / Ciliogenesis Defect (robust z=-2.06, ciliated=21.8%) PMID:26595381

Phenotypes

Mouse phenotype:
increased neutrophil cell number; preweaning lethality; complete penetrance; embryonic lethality prior to tooth bud stage; embryonic lethality prior to organogenesis
Human ciliopathy phenotype:
retinitis pigmentosa

Ciliopathy associations

  • Retinal Dystrophy/Degeneration

Subcellular localization

nucleoplasm

Function

Mutations in PRPF3 cause Retinal Ciliopathy (PMID: 30967900).