InterPro domain: IPR027652

Pre-mRNA-processing-splicing factor 8 (Prp8) is a central component of the spliceosome, which may play a role in aligning the pre-mRNA 5'- and 3'-exons for ligation. It interacts with U5 snRNA, and with pre-mRNA 5'-splice sites in B spliceosomes and 3'-splice sites in C spliceosomes. It is part of the U5 snRNP complex, and of U5.4/6 and U5.U4atac/U6atac snRNP complexes in U2- and U12-dependent spliceosomes, respectively. It is also found in a mRNA splicing-dependent exon junction complex (EJC) with SRRM1 where it interacts with U5 snRNP proteins SNRP116 and WDR57/SPF38 [ 1 , 2 ].

Mutations of human Prp8 cause retinitis pigmentosa 13, a retinal dystrophy belonging to the group of pigmentary retinopathies [ 3 ].

1. Prp8 protein: at the heart of the spliceosome. RNA 11, 533-57
2. The human U5-220kD protein (hPrp8) forms a stable RNA-free complex with several U5-specific proteins, including an RNA unwindase, a homologue of ribosomal elongation factor EF-2, and a novel WD-40 protein. Mol. Cell. Biol. 18, 6756-66
3. Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). Hum. Mol. Genet. 10, 1555-62