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pre-mRNA-processing-splicing factor 8 (splicing factor Prp8, PRP8 homolog, 220 kD U5 snRNP-specific protein, p220, PRPF8, PRPC8)
Function:
1) central component of the spliceosome
2) role in aligning the pre-mRNA 5' & 3' exons for ligation
3) interacts with U5 snRNA, & with pre-mRNA 5' splice sites in B spliceosomes & 3' splice sites in C spliceosomes
4) component of the U5 snRNP complex, & of U5.4/6 & U5.U4atac/U6atac snRNP complexes in U2- & U12-dependent spliceosomes, respectively
5) found in a mRNA splicing-dependent exon junction complex with SRRM1
6) 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
General
phosphoprotein
splicing factor; snRNP-associated protein
Properties
SIZE: MW = 274 kD
entity length = 2335 aa
COMPARTMENT: cell nucleus
MOTIF: Thr phosphorylation site {T1318}
Involved in interaction with pre-mRNA 5' splice site {1669-2034}
MPN {2099-2233}
Database Correlations
OMIM correlations
MORBIDMAP 607300
UniProt Q6P2Q9
PFAM correlations
References
- UniProt :accession Q6P2Q9
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF8
Component-of
spliceosome C complex