PRPF6

pre-mRNA processing factor 6

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000101161
UniProt:
O94906
OMIM:
613979
Synonyms:
ANT-1, BB152O15.1, C20ORF14, HPRP6, PRP6, RP60, SNRNP102, TOM, U5-102K

Cilia effects upon perturbation of PRPF6

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

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-9.65) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680

Phenotypes

Mouse phenotype:
preweaning lethality, complete penetrance, abnormal behavior, hyperactivity, decreased circulating glucose level, decreased thigmotaxis, impaired righting response, increased mean corpuscular hemoglobin
Human ciliopathy phenotype:
retinitis pigmentosa

Ciliopathy associations

  • Retinal Dystrophy/Degeneration

References: PMID:21549338

Subcellular localization

basal body, cilia, nucleus

References: PMID:26167768, PMID:41005307

Functional category

  • Ciliary assembly/disassembly

Function

Mutated in autosomal dominant RP type 60. Splicing factor implicated in the correct splicing of transcripts encoding proteins important for ciliogenesis (26167768).