PRPF4

pre-mRNA splicing tri-snRNP complex factor PRPF4

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000136875
UniProt:
O43172
OMIM:
607795
Synonyms:
ENSG00000136875, PRP4, RP70, HPRP4, Prp4p, HPRP4P, SNRNP60

Ciliogenesis screen results (6 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.78) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=579, lfc=-2.77) PMID:30270045
  • Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-4.71) PMID:41160700

Phenotypes

Human ciliopathy phenotype:
retinitis pigmentosa

Ciliopathy associations

  • Retinal Dystrophy/Degeneration

References: PMID:30967900, PMID:24419317

Subcellular localization

nucleus

References: doi:10.64898/2026.08.28.747746

Functional category

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

Function

PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, and SNRNP200, are mutated in autosomal dominant retinitis pigmentosa (adRP). These proteins have been shown to localize to the base of the connecting cilium of the retinal photoreceptor cells, elucidating this form of RP as a retinal ciliopathy(PMID: 30967900). PRPF4 itself has not been shown to localize to cilia. In C. elegans, the splicing kinase PRPF-4 is required for somatic development and germline function (Barron et al., 2026, bioRxiv, doi 10.64898/2026.08.28.747746).