PRPF6

PRPF6 appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also can bind androgen receptor, providing a link between transcriptional activation and splicing.

Full Name

Pre-mRNA processing factor 6

Function

Involved in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex, one of the building blocks of the spliceosome (PubMed:28781166, PubMed:21549338).
Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but does not affect estrogen-induced transactivation.

Biological Process

mRNA splicing, via spliceosomeManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:MGI
RNA localizationManual Assertion Based On ExperimentIMP:MGI
RNA splicing1 PublicationNAS:UniProtKB
RNA splicing, via transesterification reactions1 PublicationNAS:UniProtKB
Spliceosomal complex assembly1 PublicationNAS:UniProtKB
Spliceosomal tri-snRNP complex assemblyManual Assertion Based On ExperimentIMP:BHF-UCL

Cellular Location

Nucleus, nucleoplasm
Nucleus speckle
Localized in splicing speckles.

Involvement in disease

Retinitis pigmentosa 60 (RP60):
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.