PRPF3
Function
Plays a role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex).
Involvement in disease
Retinitis pigmentosa 18
RP18
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.
Post-translational modifications
Ubiquitinated. Undergoes 'Lys-63'-linked polyubiquitination by PRPF19 and deubiquitination by USP4. 'Lys-63'-linked ubiquitination increases the affinity for PRPF8 and may regulate the assembly of the U4/U6-U5 tri-snRNP complex.
Tissue Specificity
Highly expressed in retina, liver, kidney and blood. Detected at lower levels in heart and brain.
Cellular localization
- Nucleus
- Nucleus speckle
Alternative names
HPRP3, PRP3, PRPF3, U4/U6 small nuclear ribonucleoprotein Prp3, Pre-mRNA-splicing factor 3, U4/U6 snRNP 90 kDa protein, hPrp3