Central component of the spliceosome, which may play a role in aligning the pre-mRNA 5'- and 3'-exons for ligation. Interacts with U5 snRNA, and with pre-mRNA 5'-splice sites in B spliceosomes and 3'-splice sites in C spliceosomes.
Involvement in disease
Defects in PRPF8 are the cause of retinitis pigmentosa type 13 (RP13) [MIM:600059]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP13 inheritance is autosomal dominant.
Contains 1 MPN (JAB/Mov34) domain.
The MPN domain has structural similarity with viral ribonucleases and RNase H, but unlike RNases, it does not bind any metal ions.
Phosphorylated upon DNA damage, probably by ATM or ATR.
U5 snRNP specific protein (220 kD), ortholog of S. cerevisiae Prp8p antibody
Western blot - Anti-PRPF8 antibody (ab157114)
All lanes : Anti-PRPF8 antibody (ab157114) at 0.1 µg/ml
Lane 1 : 293T whole cell lysate at 50 µg Lane 2 : 293T whole cell lysate at 15 µg Lane 3 : HeLa whole cell lysate at 50 µg Lane 4 : Jurkat whole cell lysate at 50 µg Lane 5 : NIH 3T3 whole cell lysate at 50 µg