PRPF8
Description
The PRPF8 (pre-mRNA processing factor 8) is a protein-coding gene located on chromosome 17.
Pre-mRNA-processing-splicing factor 8 is a protein that in humans is encoded by the PRPF8 gene. Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa. PRPF8 has been shown to interact with WDR57 and EFTUD2.
PRPF8 plays a central role in pre-mRNA splicing, acting as a core component of spliceosomal complexes in both the major U2-type and minor U12-type spliceosomes. It functions as a scaffold, orchestrating the assembly of spliceosomal proteins and snRNAs, and is essential for the formation of the U4/U6-U5 tri-snRNP complex, a key building block of the spliceosome. PRPF8 precisely positions U2, U5, and U6 snRNAs at splice sites on pre-mRNA substrates, facilitating the splicing process. It interacts with both the 5' and 3' splice sites, ensuring accurate splicing.
PRPF8 is also known as HPRP8, PRP8, PRPC8, RP13, SNRNP220.
