PRPF8

The MPN (JAB/Mov34) domain mediates interaction with TSSC4 and SNRNP200 (PubMed:35188580). Has structural similarity with deubiquitinating enzymes, but lacks the residues that would bind the catalytic metal ion.

Contains a region with structural similarity to reverse transcripase, presenting the classical thumb, fingers and palm architecture, but lacks enzyme activity, since the essential metal-binding residues are not conserved.

Contains a region with structural similarity to type-2 restriction endonucleases, but the residues that would bind catalytic metal ions in endonucleases are instead involved in hydrogen bonds that stabilize the protein structure.

Contains a region with structural similarity to RNase H, but lacks RNase H activity.

Plays a role in pre-mRNA splicing as core component of precatalytic, catalytic and postcatalytic spliceosomal complexes, both of the predominant U2-type spliceosome and the minor U12-type spliceosome (PubMed:10411133, PubMed:11971955, PubMed:28076346, PubMed:28502770, PubMed:28781166, PubMed:29301961, PubMed:29360106, PubMed:29361316, PubMed:30315277, PubMed:30705154, PubMed:30728453). Functions as a scaffold that mediates the ordered assembly of spliceosomal proteins and snRNAs. Required for the assembly of the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome. Functions as a scaffold that positions spliceosomal U2, U5 and U6 snRNAs at splice sites on pre-mRNA substrates, so that splicing can occur. Interacts with both the 5' and the 3' splice site.

Retinitis pigmentosa 13

RP13

A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. 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.

None

The disease is caused by variants affecting the gene represented in this entry.

Widely expressed.

• Nucleus
• Nucleus speckle

PRPC8, PRPF8, Pre-mRNA-processing-splicing factor 8, 220 kDa U5 snRNP-specific protein, PRP8 homolog, Splicing factor Prp8, p220

• entrezGene:10594
• omim:607300
• swissprot:Q6P2Q9

Proteins

Epigenetics

273600Da