PRPF31

pre-mRNA processing factor 31

Ensembl:
ENSG00000275117, ENSG00000277154, ENSG00000274651, ENSG00000277953, ENSG00000274894, ENSG00000276421, ENSG00000274144, ENSG00000277707, ENSG00000275885, ENSG00000105618
UniProt:
Q8WWY3
OMIM:
606419
Synonyms:
HPRP31, NY-BR-99, PRP31, RP11, SNRNP61

Cilia effects upon perturbation of PRPF31

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

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-12.92) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
increased total body fat amount, preweaning lethality, complete penetrance, decreased lean body mass

Ciliopathy associations

  • Retinal Dystrophy/Degeneration

Subcellular localization

basal body, cilia, nucleus

Functional category

  • Ciliary assembly/disassembly

Function

Mutated in autosomal domi nt RP type 11. Splicing factor implicated in the correct splicing of transcripts encoding proteins important for ciliogenesis (26167768). PRPF31 loss negatively regulates ciliogenesis, causing defects in cilia incidence and structural organisation (30315276).