PRPF31
Description
The PRPF31 (pre-mRNA processing factor 31) is a protein-coding gene located on chromosome 19.
PRPF31, encoded by the PRPF31 gene, is a splicing factor essential for the formation of the spliceosome. It associates with the U4/U6 di-snRNP and interacts with PRPF6 to form the U4/U6-U5 tri-snRNP. Knockdown of PRPF31 leads to accumulation of U4/U6 di-snRNPs in Cajal bodies and prevents formation of the U4/U6-U5 tri-snRNP. PRPF31 is recruited to introns following the attachment of U4 and U6 RNAs and NHP2L1, and its presence is crucial for activating the spliceosomal complex. Mutations in PRPF31 are linked to autosomal dominant retinitis pigmentosa, accounting for 2.5% of adRP cases in a UK population.
PRPF31 plays a crucial role in pre-mRNA splicing as a component of the spliceosome. It is essential for the formation of the U4/U5/U6 tri-snRNP complex, which is a key building block of the spliceosome.
PRPF31 is also known as NY-BR-99, PRP31, RP11, SNRNP61.
