Property Summary

NCBI Gene PubMed Count 73
PubMed Score 180.92
PubTator Score 182.25

Knowledge Summary

Patent

No data available

TINX Plot

Expression

  Differential Expression (5)

Disease log2 FC p
ependymoma 1.200 3.9e-02
psoriasis 2.700 6.6e-06
group 3 medulloblastoma 1.200 6.6e-03
ovarian cancer 2.400 1.7e-07
Gaucher disease type 1 -1.300 2.9e-02

Gene RIF (51)

PMID Text
27212874 This is the first Swedish report of the clinical phenotype associated with a mutation in the PRPF31 (p.IVS6+1G>T) gene.
26959129 As PRPF31 mutations cause retinitis pigmentosa by haploinsufficiency, this is a good candidate for adeno-associated virus (AAV)-based gene augmentation therapy.
26894541 The small nuclear ribonucleoprotein U4 core-domain structure has now been re-refined. The U4 Sm site-sequence AAUUUUU has been shown to bind to the seven Sm proteins SmF-SmE-SmG-SmD3-SmB-SmD1-SmD2 in an identical manner as the U1 Sm-site sequence AAUUUGU, except in SmD1 where the bound U replaces G.
24595387 We have identified a novel 14-bp deletion in PRPF31 as the genetic driver of adRP in a large Mexican family that exhibits nonpenetrance and variable expressivity, known properties of this locus.
24319336 Two novel PRPF31 mutations including a complex insertion-deletion mutation have been identified in Chinese families with retinitis pigmentosa.
24244300 identification of the novel "A" insertion mutation in exon9 at chr19:54629961-54629961 in PRPF31 can provide further genetic evidence for clinical test for adRP and JMD.
24116917 A mutation in PRPF31 is hypostatic to a trait acting on CNOT3, with the RP11 phenotype only being observed when there is homozygous (recessive) inheritance of the higher expressivity CNOT3 ("symptomatic" or risk) allele.
23834559 A PRPF31 mutation was identified to be responsible for adRP in a large Chinese family. Our findings expand the mutation spectrum of RP in the Chinese population.
23343310 The molecular and clinical features of a family with a novel 3-base insertion, c.914_915insTGT (p.Val305_Asp306insVal) in exon 9 of PRPF31 are described to illustrate the salient clinical features of mutations in this gene.
23288994 Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients occur at a relatively high frequency.
23144630 In asymptomatic carriers CNOT3 is expressed at low levels, allowing higher amounts of wild-type PRPF31 transcripts to be produced and preventing manifestation of retinal degeneration.
23041261 The present study describes mapping of a locus for non-syndromic adRP at 19q13.42 (RP11 locus) in a family of Indian origin and identifies a novel deletion, c.59_65del7, in PRPF31 within the mapped interval.
22723017 Characterization of the core promoters controlling the expression of PRPF31 and TFPT, a bi-directional gene-pair.
22174317 HIV-1 Rev interacting protein, pre-mRNA processing factor 31 homolog (PRPF31), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells
21715351 This study describes two large deletions, one in a previously reported family and one in a new family: the latter represents the largest deletion yet described on chromosome 19 and the first report of the involvement of VSTM-1.
21385873 CTNNBL1 is a novel nuclear localization sequence-binding protein that recognizes RNA-splicing factors CDC5L and Prp31
21378395 RP-PRPF defects affect the stoichiometry of spliceosomal small nuclear RNAs. In cells with PRPF31 mutations there was no lymphoblasts with PRPF31 mutations correctly assembled tri-snRNPs, but in a less efficient manner compared with controls.
20939871 extended the mutation spectrum of PRPF31 and as previously reported in other populations, it is a major cause of autosomal dominant rod-cone dystrophy in France.
20801516 Observational study of genetic testing. (HuGE Navigator)
20118938 The authors provide evidence that PRP6 and PRP31 are directly phosphorylated by human PRP4 kinase (PRP4K) concomitant with their incorporation into B complexes.
19578015 The results imply that Prpf31 is necessary for survival, and there is no compensation mechanism in mouse for the lack of this splicing factor
19506198 Mutations in PRPF31, RHO, and PRPH2 were found in low frequencies (1 of 9 autosomal dominant RP families) in Chinese patients, and the PRPF31 and PRPH2 truncating mutations were novel.
19506198 Observational study of gene-disease association. (HuGE Navigator)
19373678 Our results show that the retina-restricted phenotype caused by PRPF31 mutations cannot be explained by the presence of tissue-specific isoforms, or by differential expression of PRPF31 in the retina.
19293337 Ala216Pro mutation destabilizes the hPrp31 protein structure and reduces its interaction with snRNP binding.
19096719 The aim of this study was to use lymphoblast cell lines derived from retinitis pigmentosa patients to determine whether mutations in two of these splicing factors, PRPF8 and PRPF31, cause measurable deficiencies in pre-mRNA splicing.
18640990 PRPF31 mRNA expression and consequently the penetrance of PRPF31 mutations is managed by diffusible compounds encoded by at least two modifiers, acting in a co-regulatory system on both PRPF31 alleles during transcription.
18552984 RHO, PRPF31, RP1, and IMPDH1 were screened and causative mutations were identifiedin 4% of isolated and 2% of autosomal dominant forms of retinitis pigmentosa patients from India.
18552984 Observational study of gene-disease association. (HuGE Navigator)
18431455 The RP11 missense mutations exert their pathology mainly via a mechanism based on protein insufficiency due to protein insolubility, but there is also a minor direct negative effect on function.
18317597 pathogenic effect of PRPF31 mutations is likely due to haploinsufficiency rather than to gain of function
18177735 Our studies identify a novel splicing mutation in PRPF31 associated with adRP and suggest that the penetrance of RP11 mutations may be correlated with the expression level of the PRPF31 mRNA.
17895420 a new mutation in the PRPF31 gene is described, together with the clinical phenotype of dominant retinitis pigmentosa
17412961 structural and biochemical analyses of hPrp31-15.5K-U4 snRNA complexes show how the conserved Nop domain in hPrp31 maintains high RNP binding selectivity despite relaxed RNA sequence requirements
17325180 Observational study of gene-disease association. (HuGE Navigator)
17325180 Mutations in PRPF31 causing adRP (autosomal dominant retinitis pigmentosa) were present in nearly 5% of a mixed U.K. population.
17295140 Although the frequency of mutations in the PRPF31 gene is about 2.5% in Japanese families with adRP, it is possible that c.1142delG is a common mutation among Japanese patients with adRP associated with mutations in the PRPF31 gene.
17003455 MLPA (multiplex ligation-dependent probe amplification) was used to identify genomic rearrangements in PRPF31 in five families, suggesting a frequency of approximately 2.5%.
16917484 We describe a novel PRPF31 mutation and present the first case of a homozygous mutation in the RPGR gene in a female individual.
16636657 This mutation provides evidence that haploinsufficiency rather than aberrant function of mutated proteins is cause of disease in these adRP patients with mutations in PRPF31 gene.
16427773 Data demonstrate that His-tagged PRPF31 interacts with importin beta1 for translocation to the nucleus, with no requirement for importin alpha1.
16139010 The 1142delG and 1155-1159delGGACG/insAGGGATT mutations in the PRPF31 gene cause RP.
15924690 A novel splice site mutation in the PRPF31 gene caused retinitis pigmentosa (RP) in the four-generation Chinese RP family.
15659613 Our results demonstrate that mutations in PRPF31 gene affect rhodopsin (RHO) pre-mRNA splicing and reveal a link between PRPF31 and RHO, two major genes in autosomal dominant retinitis pigmentosa.
15257298 in the absence of either hPrp31 or hPrp6, U4/U6 di-snRNPs as well as p110 accumulate in Cajal bodies
15162096 A novel splicing mutation (IVS5-1G>A) in the pre-mRNA splicing-factor gene PRPF31 causes retinitis pigmentosa in a large Chinese family. The mutation results in a truncated protein of PRPF31.
14507862 Partial penetrance in RP11 could be due to the coinheritance of a PRPF31 gene defect and a low-expressed wild-type allele
12923864 Deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa
12714658 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.
12444105 Two missense mutations in PRPF31 (A194E and A216P) linked to autosomal dominant retinitis pigmentosa substantially hinder translocation of PRPF31 into the nucleus.
11867543 Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6*U5 tri-snRNP formation and pre-mRNA splicing.

AA Sequence

MSLADELLADLEEAAEEEEGGSYGEEEEEPAIEDVQEETQLDLSGDSVKTIAKLWDSKMFAEIMMKIEEY      1 - 70
ISKQAKASEVMGPVEAAPEYRVIVDANNLTVEIENELNIIHKFIRDKYSKRFPELESLVPNALDYIRTVK     71 - 140
ELGNSLDKCKNNENLQQILTNATIMVVSVTASTTQGQQLSEEELERLEEACDMALELNASKHRIYEYVES    141 - 210
RMSFIAPNLSIIIGASTAAKIMGVAGGLTNLSKMPACNIMLLGAQRKTLSGFSSTSVLPHTGYIYHSDIV    211 - 280
QSLPPDLRRKAARLVAAKCTLAARVDSFHESTEGKVGYELKDEIERKFDKWQEPPPVKQVKPLPAPLDGQ    281 - 350
RKKRGGRRYRKMKERLGLTEIRKQANRMSFGEIEEDAYQEDLGFSLGHLGKSGSGRVRQTQVNEATKARI    351 - 420
SKTLQRTLQKQSVVYGGKSTIRDRSSGTASSVAFTPLQGLEIVNPQAAEKKVAEANQKYFSSMAEFLKVK    421 - 490
GEKSGLMST                                                                 491 - 499
//

Text Mined References (79)

PMID Year Title
27212874 2016 Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa.
27107012 2016 Pooled-matrix protein interaction screens using Barcode Fusion Genetics.
26959129 2016 Course of Ocular Function in PRPF31 Retinitis Pigmentosa.
26894541 2016 Re-refinement of the spliceosomal U4 snRNP core-domain structure.
24595387 2014 Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31.
24319336 2013 Two novel PRP31 premessenger ribonucleic acid processing factor 31 homolog mutations including a complex insertion-deletion identified in Chinese families with retinitis pigmentosa.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24244300 2013 A novel PRPF31 mutation in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration.
24116917 2014 Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".
23834559 2015 Clinical and genetic identification of a large chinese family with autosomal dominant retinitis pigmentosa.
23343310 2013 Autosomal dominant retinitis pigmentosa secondary to pre-mRNA splicing-factor gene PRPF31 (RP11): review of disease mechanism and report of a family with a novel 3-base pair insertion.
23288994 2012 Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23144630 2012 CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.
23041261 2012 A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family.
22723017 2012 Expression of PRPF31 and TFPT: regulation in health and retinal disease.
22681889 2012 The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
22365833 2012 Dynamic protein-protein interaction wiring of the human spliceosome.
21715351 2011 A 112 kb deletion in chromosome 19q13.42 leads to retinitis pigmentosa.
21697133 2011 Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.
21385873 2011 CTNNBL1 is a novel nuclear localization sequence-binding protein that recognizes RNA-splicing factors CDC5L and Prp31.
21378395 2011 PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.
21269460 2011 Initial characterization of the human central proteome.
20939871 2010 Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20118938 2010 Human PRP4 kinase is required for stable tri-snRNP association during spliceosomal B complex formation.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19578015 2009 Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP).
19506198 2009 Novel PRPF31 and PRPH2 mutations and co-occurrence of PRPF31 and RHO mutations in Chinese patients with retinitis pigmentosa.
19373678 2009 PRPF31 alternative splicing and expression in human retina.
19293337 2009 A mutation linked to retinitis pigmentosa in HPRP31 causes protein instability and impairs its interactions with spliceosomal snRNPs.
19096719 2008 Evaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18640990 2008 Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations.
18552984 2008 Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India.
18431455 2008 Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31.
18317597 2008 Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.
18177735 2008 Identification and functional characterization of a novel splicing mutation in RP gene PRPF31.
17895420 2007 Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31.
17636026 2007 A dynamic scaffold of pre-snoRNP factors facilitates human box C/D snoRNP assembly.
17412961 2007 Binding of the human Prp31 Nop domain to a composite RNA-protein platform in U4 snRNP.
17325180 2007 Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa.
17295140 Mutation c. 1142 del G in the PRPF31 gene in a family with autosomal dominant retinitis pigmentosa (RP11) and its implications.
17286855 2007 Mapping of transcription start sites of human retina expressed genes.
17003455 2006 Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa.
16917484 2006 Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families.
16857676 2006 RNA structural requirements for the association of the spliceosomal hPrp31 protein with the U4 and U4atac small nuclear ribonucleoproteins.
16723661 2006 The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP.
16636657 2006 A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of disease.
16427773 2006 A study of the nuclear trafficking of the splicing factor protein PRPF31 linked to autosomal dominant retinitis pigmentosa (ADRP).
16381901 2006 The LIFEdb database in 2006.
16139010 2005 Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa.
15960975 2005 Physical association and coordinate function of the H3 K4 methyltransferase MLL1 and the H4 K16 acetyltransferase MOF.
15924690 2005 [Novel splice-site mutation in the pre-mRNA splicing gene PRPF31 in a Chinese family with autosomal dominant retinitis pigmentosa].
15659613 2005 Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15257298 2004 RNAi knockdown of hPrp31 leads to an accumulation of U4/U6 di-snRNPs in Cajal bodies.
15162096 2004 A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
15057824 2004 The DNA sequence and biology of human chromosome 19.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14507862 2003 Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance?
12923864 2003 Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family.
12747765 2001 Humoral immunity to human breast cancer: antigen definition and quantitative analysis of mRNA expression.
12714658 2003 Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12444105 2002 Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31.
11867543 2002 Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6*U5 tri-snRNP formation and pre-mRNA splicing.
11545739 2001 A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11).
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11230166 2001 Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
11076863 2000 DNA cloning using in vitro site-specific recombination.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8808602 1996 Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype.
8004108 1994 Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19.
1154573 The World Health Organization and the prevention of blindness.