PRPF31

This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs

Full Name

PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)

Function

Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11867543, PubMed:28781166).
Required for the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome (PubMed:11867543).

Biological Process

mRNA splicing, via spliceosomeManual Assertion Based On ExperimentIDA:UniProtKB
Ribonucleoprotein complex localizationManual Assertion Based On ExperimentIMP:UniProtKB
Spliceosomal tri-snRNP complex assemblyManual Assertion Based On ExperimentIDA:MGI

Cellular Location

Nucleus
Nucleus speckle
Nucleus, Cajal body
Predominantly found in speckles and in Cajal bodies.

Involvement in disease

Retinitis pigmentosa 11 (RP11):
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.