InterPro domain: IPR019175

General Information

  • Identifier IPR019175
  • Description Prp31 C-terminal
  • Number of genes 187
  • Gene duplication stats Loading...

Abstract

This is the C-terminal domain of the pre-mRNA processing factor Prp31. Prp31 is required for U4/U6*U5 tri-snRNP formation [ 1 ]. In humans this protein has been linked to autosomal dominant retinitis pigmentosa [ 2 , 2 ].


1. Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6*U5 tri-snRNP formation and pre-mRNA splicing. EMBO J. 21, 1148-57
2. Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31. Hum. Mol. Genet. 11, 3209-19

Species distribution

Gene table