pre-mRNA-processing-splicing factor 8 (splicing factor Prp8, PRP8 homolog, 220 kD U5 snRNP-specific protein, p220, PRPF8, PRPC8)

Function

• central component of the spliceosome
• role in aligning the pre-mRNA 5' & 3' exons for ligation
• interacts with U5 snRNA, & with pre-mRNA 5' splice sites in B spliceosomes & 3' splice sites in C spliceosomes
• component of the U5 snRNP complex, & of U5.4/6 & U5.U4atac/U6atac snRNP complexes in U2- & U12-dependent spliceosomes, respectively
• found in a mRNA splicing-dependent exon junction complex with SRRM1
• interacts with U5 snRNP proteins SNRP116 & WDR57/SPF38

Structure

• Contains 1 MPN domain (JAB/Mov34 domain)

Compartment

nucleus, nuclear speckle

Expression

widely expressed

Pathology

• defects in PRPF8 are the cause of retinitis pigmentosa 13

More general terms

• splicing factor; snRNP-associated protein
• phosphoprotein

Database

• OMIM: https://mirror.omim.org/entry/600059
• OMIM: https://mirror.omim.org/entry/607300
• UniProt: http://www.uniprot.org/uniprot/Q6P2Q9.html