Target intelligence / Profile preview

Pre-mRNA-processing factor 6 (PRPF6)

Target
PRPF6
Molecular classification
Other (Spliceosomal protein), Transcription coactivator
01

Overview

Pre-mRNA-processing factor 6 is a protein encoded by the PRPF6 gene, functioning as a core component of the spliceosome, specifically as part of the U4/U6-U5 tri-snRNP complex essential for pre-mRNA splicing in eukaryotic cells[1][3][4]. It serves as a bridging factor within the spliceosome, promoting interactions between small nuclear ribonucleoproteins (snRNPs), and plays a critical role in splicing regulation. PRPF6 links splicing and transcription by binding partners such as the androgen receptor, acting as a coactivator for certain steroid hormone receptors[1][4]. Mutations in PRPF6 are causative for Retinitis pigmentosa 60, underscoring its importance in RNA processing; however, PRPF6 is not a recognized therapeutic drug target, and no drugs are known to directly act on it[1][4].

Other names
U5-102 kDa proteinPRP6 homologP102 U5 small nuclear ribonucleoprotein particle-binding proteinAndrogen receptor N-terminal domain transactivating protein-1Putative mitochondrial outer membrane protein import receptorBB152O15.1Androgen receptor N-terminal domain-transactivating protein 1PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae)PRP6 pre-mRNA processing factor 6 homolog (yeast)Chromosome 20 open reading frame 14ANT1
02

Biological functions

Pre-mRNA splicingFormation and function of the spliceosomeRNA bindingTranscription coactivation (link with steroid receptor activity)
03

Disease associations

Retinitis pigmentosaOther (rare genetic disorders associated with splicing defects)
04

Safety considerations

Loss-of-function mutations associated with inherited Retinitis pigmentosaNo known drug safety/therapeutic concerns, as not a current therapeutic target
05

Biomarkers

PRPF6 mutation status in Retinitis pigmentosa 60

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