2OZB, 3SIU, 3SIV, 3JCR,%%s3JCR2612168988ENSG00000275885ENSG00000105618ENSMUSG00000008373Q8WWY3Q8CCF0NM_015629NM_001159714NM_027328NP_056444NP_056444.3NP_001153186NP_081604PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae), also known as PRPF31, is a protein which in humans is encoded by the PRPF31 gene.
It is essential for the formation of the spliceosome hPRP31 is associated with the U4/U6 di-snRNP and interacts with another splicing factor, hPRP6, to form the U4/U6-U5 tri-snRNP.
It has been shown that when hPRP31 is knocked down by RNAi, U4/U6 di-snRNPs accumulate in the Cajal bodies and the U4/U6-U5 tri-snRNP cannot form.
The addition of PRPF31 is crucial for the transition of the spliceosomal complex to the activated state.
[5] Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal dystrophies characterized by a progressive degeneration of photoreceptors, eventually resulting in severe visual impairment.