InterPro domain: IPR027105

Prp31 is a component of the U4/U6-U5 snRNP complex that is involved in pre-mRNA splicing [ 1 ]. It is required for U4/U6.U5 tri-snRNP formation [ 2 , 3 ]. Defects in PRPF31 are the cause of retinitis pigmentosa type 11 (RP11). RP leads to degeneration of retinal photoreceptor cells [ 4 , 5 , 6 ].

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. Isolation of an essential Schizosaccharomyces pombe gene, prp31(+), that links splicing and meiosis. Nucleic Acids Res. 28, 2214-20
3. The PRP31 gene encodes a novel protein required for pre-mRNA splicing in Saccharomyces cerevisiae. Nucleic Acids Res. 24, 1164-70
4. Binding of the human Prp31 Nop domain to a composite RNA-protein platform in U4 snRNP. Science 316, 115-20
5. Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype. Am. J. Hum. Genet. 59, 864-71
6. A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Mol. Cell 8, 375-81