Affinage

PRPF31

U4/U6 small nuclear ribonucleoprotein Prp31 · UniProt Q8WWY3

Length
499 aa
Mass
55.5 kDa
Annotated
2026-04-28
100 papers in source corpus 23 papers cited in narrative 23 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

PRPF31 is an essential pre-mRNA splicing factor that bridges the U4/U6 di-snRNP to U5 snRNP, enabling assembly of the catalytic U4/U6.U5 tri-snRNP required for spliceosome activation. Its Nop domain recognizes a composite ribonucleoprotein surface formed by the 15.5K protein and U4 (or U4atac) snRNA, with specificity governed by structural differences in the snRNA capping pentaloop, and its activity is regulated by PRP19-mediated K63-linked ubiquitination and USP15/SART3-mediated deubiquitination that control its interaction with the U5 component PRP8 (PMID:17412961, PMID:21784869, PMID:28088760, PMID:15257298). Beyond splicing, PRPF31 directly binds spindle microtubules and the Ndc80 kinetochore complex during mitosis to promote accurate chromosome segregation, a function too rapid to be explained by transcript-level effects (PMID:30475206). Heterozygous loss-of-function mutations cause autosomal dominant retinitis pigmentosa (RP11) primarily through haploinsufficiency—most mutations generate premature termination codons degraded by nonsense-mediated decay—with disease penetrance modulated by wild-type allele expression levels controlled in part by the transcriptional repressor CNOT3 (PMID:18317597, PMID:23144630, PMID:30315276).

Mechanistic history

Synthesis pass · year-by-year structured walk · 14 steps
  1. 1996 High

    Establishing PRPF31 as an essential splicing factor: the yeast ortholog PRP31 was shown to be required for cell viability and directly needed for pre-mRNA splicing both in vivo and in vitro, defining the gene's core cellular function.

    Evidence Temperature-sensitive mutant screen with in vivo and in vitro splicing assays in S. cerevisiae

    PMID:8604353

    Open questions at the time
    • Human ortholog function not yet tested
    • Position within spliceosomal subcomplex unknown
    • No structural information
  2. 2000 Medium

    Genetic interaction with PRP6 and essentiality in both vegetative and meiotic contexts were established in fission yeast, positioning Prp31 as a general splicing factor with functional links to tri-snRNP assembly components.

    Evidence Synthetic lethality of prp31 with prp6 and splicing assays in S. pombe

    PMID:10871341

    Open questions at the time
    • Biochemical basis of Prp31–Prp6 interaction unresolved
    • Whether meiotic defect is direct or secondary to splicing failure unknown
  3. 2002 High

    The question of how RP11 mutations cause disease was addressed: missense mutations A194E and A216P impair nuclear translocation without exerting dominant-negative effects on splicing, pointing to protein insufficiency rather than toxic gain-of-function.

    Evidence Yeast complementation, mammalian immunofluorescence, and rhodopsin minigene splicing assay

    PMID:12444105

    Open questions at the time
    • Mechanism of nuclear import failure not defined
    • Whether all RP11 mutations act via same mechanism unknown
  4. 2004 High

    PRPF31's specific role in tri-snRNP biogenesis was defined: its depletion blocks the U4/U6-to-U4/U6.U5 transition, causing U4/U6 di-snRNP accumulation in Cajal bodies, establishing PRPF31 as the bridge between di-snRNP and U5 snRNP.

    Evidence RNAi knockdown in HeLa cells with glycerol gradient fractionation and fluorescence microscopy

    PMID:15257298

    Open questions at the time
    • Direct binding partners mediating the bridging step not identified
    • Role of Cajal body accumulation unclear
  5. 2005 High

    Linking PRPF31 dysfunction to retinal gene expression: mutant PRPF31 inhibits splicing of rhodopsin transcripts and causes photoreceptor apoptosis, providing the first direct mechanistic connection between a ubiquitous splicing factor mutation and retina-specific pathology.

    Evidence Immunoprecipitation of splicing complexes with RT-PCR and apoptosis assays in primary retinal cells

    PMID:15659613

    Open questions at the time
    • Why retinal transcripts are selectively vulnerable not explained
    • In vivo retinal splicing defects not yet demonstrated
  6. 2007 High

    Structural basis of PRPF31 RNA recognition was solved: the Nop domain crystal structure in complex with 15.5K and U4 snRNA revealed it as a dedicated RNP-binding module with distinct RNA and protein interaction surfaces, and RP11 mutations were linked to aberrant PRPF6 interaction.

    Evidence X-ray crystallography of the ternary hPrp31–15.5K–U4 snRNA complex; yeast two-hybrid analysis of RP11 mutants

    PMID:17412961

    Open questions at the time
    • Full-length PRPF31 structure not available
    • Structural basis of PRPF31–PRPF6 interaction not resolved
  7. 2008 High

    The haploinsufficiency mechanism was firmly established: most RP11 mutations create premature stop codons degraded by NMD, producing functional null alleles, confirming that disease arises from reduced wild-type protein rather than toxic mutant protein.

    Evidence Allele-specific mRNA quantification with NMD inhibition in patient-derived cell lines

    PMID:18317597

    Open questions at the time
    • Why 50% protein reduction is pathogenic specifically in retina not resolved
    • Contribution of rare dominant-negative mutations not fully excluded
  8. 2011 High

    Dual snRNA specificity was structurally explained: U4 and U4atac pentaloops adopt distinct conformations when bound to PRPF31–15.5K, with U4atac forming additional contacts including His270 stacking, explaining how PRPF31 serves both major and minor spliceosomes.

    Evidence X-ray crystallography of both ternary complexes with mutagenesis and gel-shift validation

    PMID:21784869

    Open questions at the time
    • Functional consequences of differential affinity for U4 vs U4atac in vivo not tested
  9. 2012 High

    The long-standing puzzle of incomplete RP11 penetrance was solved: CNOT3 was identified as a transcriptional repressor of PRPF31, with lower CNOT3 levels in asymptomatic carriers permitting higher wild-type allele expression that compensates for the null allele.

    Evidence ChIP showing CNOT3 binding to PRPF31 promoter; siRNA knockdown of CNOT3 increasing PRPF31 expression; correlation in patient-derived cell lines

    PMID:23144630

    Open questions at the time
    • Other trans-acting modifiers of PRPF31 expression not surveyed
    • Mechanism of CNOT3 expression variation between individuals unknown
  10. 2017 High

    Post-translational regulation of PRPF31 was uncovered: PRP19-mediated K63-ubiquitination and USP15/SART3-mediated deubiquitination control PRPF31's interaction with PRP8 and thus tri-snRNP stability and splicing efficiency.

    Evidence In vitro ubiquitination and deubiquitinase assays, co-immunoprecipitation, and splicing assays

    PMID:28088760

    Open questions at the time
    • Specific ubiquitinated lysine residues on PRPF31 not mapped
    • Whether ubiquitination status is dynamically regulated across the cell cycle unknown
  11. 2018 High

    A splicing-independent mitotic function was discovered: PRPF31 directly binds spindle microtubules and the Ndc80 kinetochore complex during M phase, and its acute inhibition by antibody injection causes immediate chromosome segregation defects too rapid to reflect splicing changes.

    Evidence Antibody injection in Drosophila embryos; RNAi in HeLa cells; co-IP and microtubule co-sedimentation; M-phase-restricted interaction

    PMID:30475206

    Open questions at the time
    • Structural basis of PRPF31–Ndc80 interaction not determined
    • Whether this mitotic role contributes to RP11 pathology unknown
    • Mechanism of cell-cycle-restricted interaction not defined
  12. 2018 High

    Tissue-specific splicing programmes disrupted by PRPF31 haploinsufficiency were mapped: retinal cells show mis-splicing of splicing factor genes themselves, while RPE cells show mis-splicing of ciliogenesis and adhesion genes with corresponding functional defects rescued by gene editing.

    Evidence RNA-seq of patient-derived retinal organoids and RPE; Prpf31+/- mouse retina; CRISPR/Cas9 rescue

    PMID:30315276

    Open questions at the time
    • Why splicing factor transcripts are selectively vulnerable in retinal neurons not mechanistically explained
    • Contribution of individual mis-spliced transcripts to degeneration not isolated
  13. 2019 Medium

    Protein aggregation was identified as an additional pathogenic mechanism: the A216P mutant forms cytoplasmic aggregates that sequester wild-type PRPF31 into insoluble fractions, supporting a combined haploinsufficiency/dominant-negative model for missense mutations.

    Evidence Biochemical fractionation and co-overexpression in Prpf31-A216P mouse model and in vitro

    PMID:31892304

    Open questions at the time
    • Aggregation not demonstrated for other RP11 missense mutations
    • Whether chaperone (Hspa4l) upregulation is protective in vivo not established
  14. 2022 High

    Therapeutic proof-of-concept was achieved: AAV-mediated PRPF31 gene augmentation restored retinal structure and function in a CRISPR-generated Prpf31 knockout mouse, validating haploinsufficiency as the targetable disease mechanism.

    Evidence AAV-PRPF31 delivery in Prpf31 KO mice with ERG, OCT, and histological readouts

    PMID:36509783

    Open questions at the time
    • Long-term durability of AAV-mediated rescue not established
    • Optimal therapeutic window and dose–response not defined

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key open questions include how PRPF31's mitotic kinetochore function relates to retinal disease, which specific retinal transcripts are rate-limiting for photoreceptor survival under haploinsufficiency, and whether the ubiquitination cycle is a druggable axis for modulating tri-snRNP assembly.
  • No structural model of full-length PRPF31 in the context of the human tri-snRNP
  • Mechanism by which retinal cells are uniquely sensitive to 50% reduction unknown
  • Relationship between mitotic and splicing functions not dissected

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0003723 RNA binding 2 GO:0005198 structural molecule activity 2 GO:0008092 cytoskeletal protein binding 1
Localization
GO:0005634 nucleus 3 GO:0005694 chromosome 1 GO:0005856 cytoskeleton 1
Pathway
R-HSA-8953854 Metabolism of RNA 4 R-HSA-1643685 Disease 3 R-HSA-1640170 Cell Cycle 2
Partners
CNOT3NDC80PRPF19PRPF6PRPF8SART3SNU13USP15
Complex memberships
15.5K–U4 snRNA ternary complexU4/U6 di-snRNPU4/U6.U5 tri-snRNP

Evidence

Reading pass · 23 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2004 RNAi knockdown of hPrp31 in HeLa cells inhibits U4/U6.U5 tri-snRNP formation, causing accumulation of stable U4/U6 di-snRNPs and U5 mono-snRNPs; the accumulated U4/U6 di-snRNPs localize to Cajal bodies, implicating Cajal bodies in tri-snRNP recycling. RNAi knockdown combined with biochemical fractionation and fluorescence microscopy The EMBO journal High 15257298
2007 Crystal structure of the hPrp31 Nop domain in complex with 15.5K protein and U4 snRNA reveals that the Nop domain is a genuine RNP-binding module with distinct RNA and protein binding surfaces; it maintains high binding selectivity for U4/U6 snRNP over box C/D snoRNP complexes despite relaxed RNA sequence requirements. Yeast two-hybrid analyses also linked RP11 mutations to aberrant hPrp31–hPrp6 interaction that blocks tri-snRNP formation. X-ray crystallography of ternary hPrp31–15.5K–U4 snRNA complex; yeast two-hybrid assay Science High 17412961
2011 Crystal structure analysis shows that the U4 and U4atac snRNA capping pentaloops adopt different conformations when bound to hPrp31–15.5K, with U4atac forming a noncanonical base pair that creates more intimate interactions with hPrp31 (including stacking of His270); rational mutagenesis confirmed the importance of these contacts, explaining dual U4/U4atac specificity of hPrp31. X-ray crystallography of ternary complexes with U4 and U4atac snRNAs; site-directed mutagenesis; gel-shift assays RNA High 21784869
1996 PRP31 (yeast ortholog of PRPF31) encodes a ~60 kDa protein essential for cell viability and directly required for pre-mRNA splicing both in vivo and in vitro in Saccharomyces cerevisiae. Temperature-sensitive mutant screen; in vivo and in vitro splicing assays; epitope-tagging and Western analysis Nucleic acids research High 8604353
2002 RP11-associated PRPF31 missense mutations A194E and A216P substantially hinder nuclear translocation of the protein in mammalian cells; the A216P mutation introduced into the yeast ortholog PRP31p only partially restores growth at restrictive temperature, indicating reduced splicing function; however, no dominant-negative effect on splicing was detected with a rhodopsin minigene assay, pointing to protein insufficiency as the disease mechanism. Yeast complementation assay; in vivo splicing assay in transfected human cells; Western blot; immunofluorescence microscopy Human molecular genetics High 12444105
2005 Mutant PRPF31 proteins (A194E, A216P) significantly inhibit pre-mRNA splicing of rhodopsin (RHO) intron 3 as shown by immunoprecipitation of splicing complexes from retinal cells; PRPF31-containing complexes associate with RHO transcripts; expression of mutant PRPF31 reduces rhodopsin expression and causes apoptosis of rhodopsin-positive retinal cells in primary culture. Immunoprecipitation of splicing complexes + RT-PCR; minigene splicing assay; primary retinal cell culture with apoptosis readout The Journal of neuroscience High 15659613
2007 Immunoprecipitation-coupled microarray identified peripherin/RDS and FSCN2 transcripts associated with PRPF31-containing splicing complexes in photoreceptors; mutant PRPF31 proteins significantly inhibited pre-mRNA splicing of RDS and FSCN2 minigenes, establishing a functional link between the ubiquitous splicing factor PRPF31 and photoreceptor-specific gene expression. Immunoprecipitation-coupled microarray; minigene splicing assay Neurobiology of disease Medium 17350276
2008 Five of six PRPF31 patient mutations lead to premature termination codons that activate nonsense-mediated mRNA decay (NMD), resulting in strong reduction of mutant PRPF31 transcripts and absence of truncated proteins; blocking NMD partially restored mutant mRNA but not protein, indicating that most mutations act as null alleles through mRNA surveillance, establishing haploinsufficiency as the pathogenic mechanism. Allele-specific mRNA quantification; NMD inhibition (CHX, other inhibitors); Western blot; immunofluorescence in patient-derived cell lines The Journal of clinical investigation High 18317597
2008 Pull-down assays showed that the RP11 missense mutation A216P in PRPF31 causes a stronger interaction with PRPF6 compared to wild-type, providing a mechanistic basis for a partial dominant-negative effect on splicing; splicing assays using full-length RHO template show 100% efficiency, whereas mini-gene assays detect reduced splicing, indicating protein insolubility/insufficiency as primary mechanism. Pull-down assay (PRPF31–PRPF6 interaction); in vivo splicing assay with RHO and GNAT1 minigene and full-length templates Molecular vision Medium 18431455
2017 PRP19 complex modifies PRPF31 with K63-linked ubiquitin chains; USP15, together with its substrate-targeting factor SART3, forms a complex with USP4 to deubiquitinate PRPF31 (and PRPF3); the ubiquitination/deubiquitination status of PRPF31 regulates its interaction with U5 snRNP component PRP8, which is required for efficient splicing of chromosome-segregation-related genes, likely by stabilizing the U4/U6.U5 tri-snRNP complex. Co-immunoprecipitation; in vitro ubiquitination assay; deubiquitinase assay; splicing assay Nucleic acids research High 28088760
2018 Sf3A2 and Prp31 (Drosophila/human) bind spindle microtubules and the Ndc80 kinetochore complex; antibody injection into Drosophila embryos disrupts mitotic division within 1 minute (ruling out a splicing-related mechanism); depletion of Prp31 in HeLa cells causes chromosome segregation defects associated with reduced Ndc80/HEC1 at kinetochores; the Ndc80–Prp31 interaction is restricted to M phase in human cells. Anti-Prp31 antibody injection into Drosophila embryos; RNAi depletion in HeLa cells; Co-IP; microtubule co-sedimentation; kinetochore localization by immunofluorescence eLife High 30475206
2012 CNOT3, a subunit of the Ccr4-NOT transcription complex, directly binds to a specific PRPF31 promoter sequence (shown by chromatin immunoprecipitation) and transcriptionally represses PRPF31 expression; siRNA-mediated silencing of CNOT3 increases PRPF31 expression; lower CNOT3 levels in asymptomatic PRPF31 mutation carriers permit higher wild-type PRPF31 expression, explaining incomplete penetrance. Chromatin immunoprecipitation (ChIP); siRNA silencing of CNOT3; mRNA/protein quantification in patient-derived cell lines; next-generation sequencing of CNOT3 region PLoS genetics High 23144630
2018 Transcriptome profiling of RP11 (PRPF31-mutated) patient-derived retinal organoids, RPE and Prpf31+/- mouse tissues revealed that disrupted alternative splicing occurs for specific programmes: mis-splicing of pre-mRNA splicing factor genes is restricted to retinal cells, while mis-splicing of ciliogenesis and cell adhesion genes is associated with RPE defects including disrupted apical-basal polarity, reduced trans-epithelial resistance, reduced phagocytosis, and decreased cilia length. In situ gene editing of pathogenic mutation rescued protein expression and key phenotypes. Transcriptome profiling (RNA-seq) of patient-derived retinal organoids and RPE; Prpf31+/- mouse retinal analyses; CRISPR/Cas9 gene editing rescue Nature communications High 30315276
2021 In prpf31 knockout zebrafish, retinal progenitor cells (RPCs) show mitotic arrest, DNA damage, and failure of differentiation at an early embryonic stage while other tissues are less affected; these defects are rescued by wild-type human PRPF31 but not disease-associated mutants; bioinformatic analysis showed that Prpf31 deletion predominantly causes exon skipping at weak 5' splice sites, particularly in genes required for DNA repair and mitotic progression. Zebrafish prpf31 knockout; rescue by wild-type vs. mutant human PRPF31; transcriptome-wide splicing analysis; cell biology assays (mitotic arrest, DNA damage markers) Nucleic acids research High 33476374
2011 The SP117 PRPF31 mutation produces an unstable, cytoplasm-mislocalized protein; its overexpression does not cause photoreceptor degeneration in zebrafish, supporting haploinsufficiency as the disease mechanism. The AD5 mutation produces a stable protein initially nuclear but later found in the cytoplasm concurrent with rod outer segment degeneration; overexpression of AD5 causes embryonic lethality rescued by wild-type Prpf31; retinal transcripts are wrongly spliced in transgenic AD5 retinas with increased apoptosis, demonstrating in vivo that aberrant splicing contributes to retinal defects via a dominant-negative mechanism. Zebrafish overexpression and transgenic retina-specific expression; immunolocalization; in vivo RT-PCR splicing analysis; lethality rescue assay Molecular neurodegeneration High 21801444
2009 Prpf31A216P/A216P and Prpf31-/- genotypes are embryonic lethal in mice, demonstrating that Prpf31 is essential for survival and that there is no compensating mechanism for its complete loss; heterozygous Prpf31A216P/+ and Prpf31+/- mice show no retinal degenerative phenotype, suggesting that one wild-type allele is sufficient for retinal health in mice and that the p.A216P mutation does not exert a dominant-negative effect in this model. Gene-targeted knock-in and knockout mouse models; ERG; retinal histology; fundus examination Investigative ophthalmology & visual science High 19578015
2019 Mutant PRPF31 protein (A216P) forms cytoplasmic aggregates in RPE cells, sequestering normal PRPF31 into insoluble fractions and reducing nuclear PRPF31 levels; in response, the HSP70 family chaperone Hspa4l is overexpressed and may facilitate folding and nuclear translocation of mutant protein. Co-expression of mutant and wild-type PRPF31 in vitro shows the mutant recruits normal protein into insoluble aggregates, supporting a combined haploinsufficiency/dominant-negative mechanism. Mouse model analysis (Prpf31A216P); immunofluorescence; biochemical fractionation (soluble/insoluble); in vitro co-overexpression; Western blot Molecular medicine Medium 31892304
2016 PRPF31 knockdown by siRNA in HBV-replicating cells decreased cccDNA formation without major cytotoxicity; siRNA-resistant PRPF31 rescued cccDNA formation; chromatin immunoprecipitation and immunoprecipitation assays revealed a physical association between PRPF31 and HBV cccDNA; co-overexpression of PRPF31 and HBx enhanced cccDNA formation, suggesting PRPF31–HBx interaction promotes cccDNA production. siRNA knockdown; rescue experiment with siRNA-resistant PRPF31; ChIP assay; co-immunoprecipitation; overexpression Biochemical and biophysical research communications Medium 27864147
2012 Luciferase reporter assays identified core promoter elements for PRPF31; one functional polymorphism in the PRPF31 promoter increased transcriptional activation; a patient regulatory-region mutation reduced promoter activity by >50%, establishing a mechanism of functional haploinsufficiency at the transcriptional level. Dual-luciferase reporter assay in HeLa and RPE-1 cells; patient-derived genomic DNA constructs Human molecular genetics Medium 22723017
2005 In fission yeast (S. pombe), Prp31 is complexed with Prp1 and Brr2 in large pre-catalytic spliceosomal particles (30S–60S) containing all five snRNAs; Prp1 and Prp31 co-sediment in the same particles, and cells lacking Prp1 still contain these Prp31-associated particles, suggesting Prp31 participates in pre-catalytic spliceosome assembly independently of Prp1 phosphorylation. Co-sedimentation/sucrose gradient fractionation; co-immunoprecipitation; genetic suppressor analysis in S. pombe Current genetics Medium 16133344
2000 In fission yeast, prp31+ is essential for vegetative growth and meiotic progression; a temperature-sensitive prp31-E1 allele displays pre-mRNA splicing defects and is synthetically lethal with prp6, establishing Prp31 as a general splicing factor functioning in both vegetative and meiotic contexts. Temperature-sensitive mutant isolation; complementation cloning; synthetic lethality assay with prp6; pre-mRNA splicing assay Nucleic acids research Medium 10871341
2019 AAV-mediated delivery of wild-type PRPF31 to iPSC-derived RPE cells from PRPF31-mutant patients restored normal phagocytosis and cilia formation, and partially restored cell structure and barrier function, demonstrating that increasing wild-type PRPF31 protein levels is sufficient to rescue RPE functional defects. AAV gene augmentation in iPSC-derived RPE; phagocytosis assay; ciliogenesis assay; transepithelial resistance measurement; immunofluorescence Molecular therapy. Methods & clinical development Medium 31890732
2022 AAV-mediated PRPF31 gene augmentation in a CRISPR/Cas9-based Prpf31 knockout mouse model restored retinal structure and function (ERG responses), providing the first in vivo proof-of-concept for AAV gene therapy to treat PRPF31-retinitis pigmentosa. AAV-CRISPR/Cas9 knockout mouse model; AAV-PRPF31 gene augmentation; ERG; OCT; histology Nature communications High 36509783

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2019 m6A-induced lncRNA RP11 triggers the dissemination of colorectal cancer cells via upregulation of Zeb1. Molecular cancer 315 30979372
2018 Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa. Nature communications 177 30315276
2021 LncRNA RP11-89 facilitates tumorigenesis and ferroptosis resistance through PROM2-activated iron export by sponging miR-129-5p in bladder cancer. Cell death & disease 149 34728613
2004 RNAi knockdown of hPrp31 leads to an accumulation of U4/U6 di-snRNPs in Cajal bodies. The EMBO journal 132 15257298
2007 Binding of the human Prp31 Nop domain to a composite RNA-protein platform in U4 snRNP. Science (New York, N.Y.) 121 17412961
2012 CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance. PLoS genetics 109 23144630
2008 Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay. The Journal of clinical investigation 88 18317597
2003 Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa. Investigative ophthalmology & visual science 82 12714658
1997 Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele. American journal of human genetics 81 9345108
2002 Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31. Human molecular genetics 72 12444105
2006 Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa. Investigative ophthalmology & visual science 69 17003455
2019 Identification of Renal Long Non-coding RNA RP11-2B6.2 as a Positive Regulator of Type I Interferon Signaling Pathway in Lupus Nephritis. Frontiers in immunology 60 31130957
2005 Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells. The Journal of neuroscience : the official journal of the Society for Neuroscience 60 15659613
2006 A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of disease. Molecular vision 59 16636657
2017 LncRNA-RP11-296A18.3/miR-138/HIF1A Pathway Regulates the Proliferation ECM Synthesis of Human Nucleus Pulposus Cells (HNPCs). Journal of cellular biochemistry 55 28543639
2020 Hypoxia-induced lncRNA RP11-390F4.3 promotes epithelial-mesenchymal transition (EMT) and metastasis through upregulating EMT regulators. Cancer letters 54 32353468
2016 Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa. Clinical genetics 52 26853529
2022 A novel lncRNA RP11-386G11.10 reprograms lipid metabolism to promote hepatocellular carcinoma progression. Molecular metabolism 49 35798238
2020 Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy. Experimental eye research 49 32014492
2020 RP11-323N12.5 promotes the malignancy and immunosuppression of human gastric cancer by increasing YAP1 transcription. Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association 47 32623586
2009 Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP). Investigative ophthalmology & visual science 47 19578015
2008 Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations. Human molecular genetics 47 18640990
2022 Modeling PRPF31 retinitis pigmentosa using retinal pigment epithelium and organoids combined with gene augmentation rescue. NPJ Regenerative medicine 46 35974011
2011 Temporal and tissue specific regulation of RP-associated splicing factor genes PRPF3, PRPF31 and PRPC8--implications in the pathogenesis of RP. PloS one 44 21283520
2010 Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports. BMC medical genetics 43 20939871
2011 Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa. Molecular neurodegeneration 41 21801444
2018 LncRNA RP11-79H23.3 Functions as a Competing Endogenous RNA to Regulate PTEN Expression through Sponging hsa-miR-107 in the Development of Bladder Cancer. International journal of molecular sciences 39 30149689
1996 The PRP31 gene encodes a novel protein required for pre-mRNA splicing in Saccharomyces cerevisiae. Nucleic acids research 39 8604353
2019 AAV-Mediated Gene Augmentation Therapy Restores Critical Functions in Mutant PRPF31+/- iPSC-Derived RPE Cells. Molecular therapy. Methods & clinical development 38 31890732
2015 The Splicing Factor PRP31 Is Involved in Transcriptional Gene Silencing and Stress Response in Arabidopsis. Molecular plant 38 25684655
2021 Triptolide decreases rheumatoid arthritis fibroblast-like synoviocyte proliferation, invasion, inflammation and presents a therapeutic effect in collagen-induced arthritis rats via inactivating lncRNA RP11-83J16.1 mediated URI1 and β-catenin signaling. International immunopharmacology 36 34358861
2020 A novel long non-coding RNA RP11-286H15.1 represses hepatocellular carcinoma progression by promoting ubiquitination of PABPC4. Cancer letters 35 33259899
2019 The role of lncRNA RP11-154D6 in steroid-induced osteonecrosis of the femoral head through BMSC regulation. Journal of cellular biochemistry 35 31190361
2019 Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins. Molecular medicine (Cambridge, Mass.) 35 31892304
2021 Prpf31 is essential for the survival and differentiation of retinal progenitor cells by modulating alternative splicing. Nucleic acids research 34 33476374
2007 Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa. Neurobiology of disease 32 17350276
2020 lncRNA- RP11-156p1.3, novel diagnostic and therapeutic targeting via CRISPR/Cas9 editing in hepatocellular carcinoma. Genomics 31 32544548
2020 The lncRNA RP11-142A22.4 promotes adipogenesis by sponging miR-587 to modulate Wnt5β expression. Cell death & disease 31 32561739
2018 Splicing factors Sf3A2 and Prp31 have direct roles in mitotic chromosome segregation. eLife 31 30475206
2017 USP15 regulates dynamic protein-protein interactions of the spliceosome through deubiquitination of PRP31. Nucleic acids research 31 28088760
2008 Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India. Molecular vision 31 18552984
2019 Silencing of long noncoding RNA RP11-476D10.1 enhances apoptosis and autophagy while inhibiting proliferation of papillary thyroid carcinoma cells via microRNA-138-5p-dependent inhibition of LRRK2. Journal of cellular physiology 30 31102261
2008 Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31. Molecular vision 30 18431455
2005 Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa. American journal of ophthalmology 30 16139010
2004 A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa. Molecular vision 30 15162096
2018 Knockdown of Long Non-Coding RNA RP11-445H22.4 Alleviates LPS-Induced Injuries by Regulation of MiR-301a in Osteoarthritis. Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 29 29414810
2018 Rg1 inhibits high glucose-induced mesenchymal activation and fibrosis via regulating miR-2113/RP11-982M15.8/Zeb1 pathway. Biochemical and biophysical research communications 29 29654764
2018 Time Course of Disease Progression of PRPF31-mediated Retinitis Pigmentosa. American journal of ophthalmology 29 30582903
2020 RP11-480I12.5-004 Promotes Growth and Tumorigenesis of Breast Cancer by Relieving miR-29c-3p-Mediated AKT3 and CDK6 Degradation. Molecular therapy. Nucleic acids 28 32810693
2018 Long non-coding RNA RP11-552M11.4 promotes cells proliferation, migration and invasion by targeting BRCA2 in ovarian cancer. Cancer science 28 29478268
2024 The RP11-417E7.1/THBS2 signaling pathway promotes colorectal cancer metastasis by activating the Wnt/β-catenin pathway and facilitating exosome-mediated M2 macrophage polarization. Journal of experimental & clinical cancer research : CR 27 39020380
2022 Gene augmentation prevents retinal degeneration in a CRISPR/Cas9-based mouse model of PRPF31 retinitis pigmentosa. Nature communications 27 36509783
2021 LncRNA RP11-295G20.2 regulates hepatocellular carcinoma cell growth and autophagy by targeting PTEN to lysosomal degradation. Cell discovery 27 34903728
2005 Multiple genetic and biochemical interactions of Brr2, Prp8, Prp31, Prp1 and Prp4 kinase suggest a function in the control of the activation of spliceosomes in Schizosaccharomyces pombe. Current genetics 27 16133344
2016 Course of Ocular Function in PRPF31 Retinitis Pigmentosa. Seminars in ophthalmology 26 26959129
2021 The LncRNA RP11-301G19.1/miR-582-5p/HMGB2 axis modulates the proliferation and apoptosis of multiple myeloma cancer cells via the PI3K/AKT signalling pathway. Cancer gene therapy 25 33707625
2017 LncRNA-RP11-714G18.1 suppresses vascular cell migration via directly targeting LRP2BP. Immunology and cell biology 25 29363163
2024 An unbiased lncRNA dropout CRISPR-Cas9 screen reveals RP11-350G8.5 as a novel therapeutic target for multiple myeloma. Blood 24 39158066
2020 Role of RP11-83J16.1, a novel long non-coding RNA, in rheumatoid arthritis. American journal of translational research 24 32355550
2020 Exosomal miR-1298 and lncRNA-RP11-583F2.2 Expression in Hepato-cellular Carcinoma. Current genomics 24 32655298
2019 Long non-coding RNA RP11-552M11.4 favors tumorigenesis and development of cervical cancer via modulating miR-3941/ATF1 signaling. International journal of biological macromolecules 24 30790638
2014 Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31. Investigative ophthalmology & visual science 24 24595387
2005 Analysis of spliceosomal complexes in Trypanosoma brucei and silencing of two splicing factors Prp31 and Prp43. Molecular and biochemical parasitology 24 16219373
2021 The Long Noncoding RNA RP11-728F11.4 Promotes Atherosclerosis. Arteriosclerosis, thrombosis, and vascular biology 22 33406853
2020 LncRNA RP11-19E11 is an E2F1 target required for proliferation and survival of basal breast cancer. NPJ breast cancer 22 31934613
2020 Regulation of laryngeal squamous cell cancer progression by the lncRNA RP11-159K7.2/miR-206/DNMT3A axis. Journal of cellular and molecular medicine 22 32363688
2017 Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement. Investigative ophthalmology & visual science 22 28192796
2019 Depletion of the lncRNA RP11-567G11.1 inhibits pancreatic cancer progression. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 21 30802827
2018 Regulatory effects of the long non‑coding RNA RP11‑543N12.1 and microRNA‑324‑3p axis on the neuronal apoptosis induced by the inflammatory reactions of microglia. International journal of molecular medicine 20 29956723
2018 Integrated analysis of pseudogene RP11-564D11.3 expression and its potential roles in hepatocellular carcinoma. Epigenomics 20 30362374
2017 Long noncoding RNA RP11-766N7.4 functions as a tumor suppressor by regulating epithelial-mesenchymal transition in esophageal squamous cell carcinoma. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 20 28157654
2021 Determinants of Disease Penetrance in PRPF31-Associated Retinopathy. Genes 18 34680937
2020 Plasma Long Non-Coding RNA RP11-438N5.3 as a Novel Biomarker for Non-Small Cell Lung Cancer. Cancer management and research 18 32184656
2023 LncRNA RP11-620J15.3 promotes HCC cell proliferation and metastasis by targeting miR-326/GPI to enhance glycolysis. Biology direct 17 37020316
2021 Long Noncoding RNA RP11-357H14.17 Plays an Oncogene Role in Gastric Cancer by Activating ATF2 Signaling and Enhancing Treg Cells. BioMed research international 17 34195276
2018 Downregulation of AC061961.2, LING01-AS1, and RP11-13E1.5 is associated with dilated cardiomyopathy progression. Journal of cellular physiology 17 30203513
2017 Novel Mutations in PRPF31 Causing Retinitis Pigmentosa Identified Using Whole-Exome Sequencing. Investigative ophthalmology & visual science 17 29260190
2012 Expression of PRPF31 and TFPT: regulation in health and retinal disease. Human molecular genetics 17 22723017
2011 Structural basis for the dual U4 and U4atac snRNA-binding specificity of spliceosomal protein hPrp31. RNA (New York, N.Y.) 17 21784869
2021 Long non-coding RNA RP11-490M8.1 inhibits lipopolysaccharide-induced pyroptosis of human umbilical vein endothelial cells via the TLR4/NF-κB pathway. Immunobiology 16 34469785
2019 RP11-284F21.9 promotes oral squamous cell carcinoma development via the miR-383-5p/MAL2 axis. Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology 16 31397491
2018 A novel mutation in the PRPF31 in a North Indian adRP family with incomplete penetrance. Documenta ophthalmologica. Advances in ophthalmology 16 30099644
2022 H3K27 acetylation activated long noncoding RNA RP11-162G10.5 promotes breast cancer progression via the YBX1/GLO1 axis. Cellular oncology (Dordrecht, Netherlands) 15 36576700
2021 Long non-coding RNA RP11-283G6.5 confines breast cancer development through modulating miR-188-3p/TMED3/Wnt/β-catenin signalling. RNA biology 15 34130584
2020 Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy. Ophthalmic genetics 15 32985313
2017 Long Noncoding RNA RP11-380D23.2 Drives Distal-Proximal Patterning of the Lung by Regulating PITX2 Expression. Stem cells (Dayton, Ohio) 15 29143419
2013 Two novel PRP31 premessenger ribonucleic acid processing factor 31 homolog mutations including a complex insertion-deletion identified in Chinese families with retinitis pigmentosa. Molecular vision 15 24319336
2023 RP11-296E3.2 acts as an important molecular chaperone for YBX1 and promotes colorectal cancer proliferation and metastasis by activating STAT3. Journal of translational medicine 14 37370092
2021 LncRNA RP11-499E18.1 Inhibits Proliferation, Migration, and Epithelial-Mesenchymal Transition Process of Ovarian Cancer Cells by Dissociating PAK2-SOX2 Interaction. Frontiers in cell and developmental biology 14 34621737
2019 Rs2262251 in lncRNA RP11-462G12.2 is associated with nonsyndromic cleft lip with/without cleft palate. Human mutation 14 31283072
2017 [Effects of lncRNA RP11-770J1.3 and TMEM25 expression on paclitaxel resistance in human breast cancer cells]. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 14 29256224
2009 PRPF31 alternative splicing and expression in human retina. Ophthalmic genetics 14 19373678
2022 LncRNA RP11-59J16.2 aggravates apoptosis and increases tau phosphorylation by targeting MCM2 in AD. Frontiers in genetics 13 36092938
2021 Clinical Evidence for the Importance of the Wild-Type PRPF31 Allele in the Phenotypic Expression of RP11. Genes 13 34198599
2020 Long Non-coding RNA RP11-480I12.5 Promotes the Proliferation, Migration, and Invasion of Breast Cancer Cells Through the miR-490-3p-AURKA-Wnt/β-Catenin Axis. Frontiers in oncology 13 32733789
2018 Dependence of artesunate on long noncoding RNA-RP11 to inhibit epithelial-mesenchymal transition of hepatocellular carcinoma. Journal of cellular biochemistry 13 30335897
2016 Span poly-L-arginine nanoparticles are efficient non-viral vectors for PRPF31 gene delivery: An approach of gene therapy to treat retinitis pigmentosa. Nanomedicine : nanotechnology, biology, and medicine 13 27381066
2000 Isolation of an essential Schizosaccharomyces pombe gene, prp31(+), that links splicing and meiosis. Nucleic acids research 13 10871341
2023 PRPF31-retinitis pigmentosa: Challenges and opportunities for clinical translation. Vision research 12 37714045
2016 Host factor PRPF31 is involved in cccDNA production in HBV-replicating cells. Biochemical and biophysical research communications 12 27864147