PRPF6
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:20118938, PubMed:21549338, PubMed:28781166). Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but does not affect estrogen-induced transactivation.
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.
None
The disease may be caused by variants affecting the gene represented in this entry. Cells from RP60 patients show intron retention for pre-mRNA bearing specific splicing signals.
Post-translational modifications
Phosphorylated by PRP4K during spliceosome assembly.
Tissue Specificity
Widely expressed.
Cellular localization
- Nucleus
- Nucleoplasm
- Nucleus speckle
- Localized in splicing speckles.
Alternative names
C20orf14, PRPF6, Pre-mRNA-processing factor 6, Androgen receptor N-terminal domain-transactivating protein 1, PRP6 homolog, U5 snRNP-associated 102 kDa protein, ANT-1, U5-102 kDa protein