PRPF8

Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2-and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein.

Full Name

Pre-mRNA processing factor 8

Function

Plays 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:28502770, PubMed:28781166, PubMed:28076346, PubMed:29361316, PubMed:30315277, PubMed:29360106, PubMed:29301961, PubMed:30728453, PubMed:30705154).
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 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.

Biological Process

Cellular response to lipopolysaccharideIEA:Ensembl
Cellular response to tumor necrosis factorIEA:Ensembl
mRNA processingManual Assertion Based On ExperimentTAS:ProtInc
mRNA splicing, via spliceosomeManual Assertion Based On ExperimentIDA:UniProtKB
RNA splicingManual Assertion Based On ExperimentTAS:UniProtKB
RNA splicing, via transesterification reactionsManual Assertion Based On ExperimentTAS:UniProtKB
Spliceosomal tri-snRNP complex assemblyManual Assertion Based On ExperimentIDA:UniProtKB

Cellular Location

Nucleus
Nucleus speckle

Involvement in disease

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.