PRPF3 Antibody, FITC conjugated

1. Results from whole-exome sequencing identified 2 variants c.1345C > G (p.R449G) and c.1532A > C (p.H511P) in PRPF3 which co-segregate with retinitis pigmentosa in two families respectively. PMID: 27886254
2. SUMO conjugation plays a role during mRNA splicing processes including a role for Prp3 SUMOylation in U4/U6*U5 tri-snRNP formation and/or recruitment. PMID: 28379520
3. RP-PRPF defects affect the stoichiometry of spliceosomal small nuclear RNAs. Mutant PRPF3 proteins stably associated with tri-snRNPs. PMID: 21378395
4. A mutation in the PRPF3 gene is rare compared to other genes causing autosomal dominant retinitis pigmentosa. PMID: 20309403
5. Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. PMID: 11773002
6. role in the recruitment of Hprp4p for the U4/U6 snRNP assembly PMID: 11971898
7. Nine mutations, six of which are novel, in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31, causing adRP have been identified in the Spanish population. PMID: 12714658
8. Free and complexed cyclophilin H have virtually identical conformations suggesting that the U4/U6-60K binding site is pre-shaped and the peptidyl-prolyl-cis/trans isomerase activity is unaffected by complex formation PMID: 12875835
9. We conclude that the Thr494Met mutation in the HPRP3 gene causes ADRP in Japanese patients. This mutation was found in 1% of patients with ADRP in Japan PMID: 15085354
10. PAP-1 interacted with Prp3p but not Prp31p in human cells and yeast, and the basic region of PAP-1 and the C-terminal region of Prp3p, regions beside spots found in retinitis pigmentosa mutations, were needed for binding PMID: 15541726
11. splicing factor PRPF3 mutations cause retinal degeneration and form detrimental aggregates in photoreceptor cells PMID: 17517693
12. Findings suggest that the loss of Hprp3p phosphorylation at Thr494 is a key step for initiating Thr494Met aberrant interactions within U4/U6 snRNP complex and these are likely linked to the retinitis pigmentosa type 18 phenotype. PMID: 17932117
13. splicing activity is significantly influenced by the CK2-hPrp3p interaction PMID: 18026141
14. TASP1, EPS15R, and PRPF3 expression were significantly induced in HCCs of transgenic EGF2B mice as was P2 promoter-driven HNF4alpha PMID: 18395097
15. These data support the notion about individual roles for CK2alpha and CK2alpha' in the splicing process. PMID: 18553058
16. The human HPRP3 gene, the orthologue of the yeast pre-mRNA splicing factor (PRP3) PMID: 11773002

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HGNC: 17348

OMIM: 601414

KEGG: hsa:9129

STRING: 9606.ENSP00000315379

UniGene: Hs.11776