Property Summary

NCBI Gene PubMed Count 44
PubMed Score 998.62
PubTator Score 351.19

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
Multiple myeloma 1.098 1.5e-03
malignant mesothelioma 1.300 1.1e-05
oligodendroglioma 1.700 8.5e-03
psoriasis -1.400 2.2e-04
osteosarcoma -1.610 7.4e-04
intraductal papillary-mucinous adenoma (... 1.100 3.0e-03
intraductal papillary-mucinous carcinoma... 1.100 2.1e-03
group 3 medulloblastoma 1.600 4.4e-04
ovarian cancer 2.600 1.3e-07
dermatomyositis 1.300 6.8e-04

 GO Function (1)

Gene RIF (16)

PMID Text
21378395 RP-PRPF defects affect the stoichiometry of spliceosomal small nuclear RNAs. Mutant PRPF3 proteins stably associated with tri-snRNPs.
20801516 Observational study of genetic testing. (HuGE Navigator)
20309403 A mutation in the PRPF3 gene is rare compared to other genes causing autosomal dominant retinitis pigmentosa.
18553058 These data support the notion about individual roles for CK2alpha and CK2alpha' in the splicing process.
18395097 TASP1, EPS15R, and PRPF3 expression were significantly induced in HCCs of transgenic EGF2B mice as was P2 promoter-driven HNF4alpha
18211889 U2AF35 and hPrp3 interactions with SPF30 can occur simultaneously, thereby potentially linking 3' splice site recognition with tri-small nuclear ribonucleoprotein addition
18026141 splicing activity is significantly influenced by the CK2-hPrp3p interaction
17932117 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.
17517693 splicing factor PRPF3 mutations cause retinal degeneration and form detrimental aggregates in photoreceptor cells
15541726 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
15085354 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
12875835 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
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.
11971898 role in the recruitment of Hprp4p for the U4/U6 snRNP assembly
11773002 Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.
11773002 The human HPRP3 gene, the orthologue of the yeast pre-mRNA splicing factor (PRP3)

AA Sequence

MALSKRELDELKPWIEKTVKRVLGFSEPTVVTAALNCVGKGMDKKKAADHLKPFLDDSTLRFVDKLFEAV      1 - 70
EEGRSSRHSKSSSDRSRKRELKEVFGDDSEISKESSGVKKRRIPRFEEVEEEPEVIPGPPSESPGMLTKL     71 - 140
QIKQMMEAATRQIEERKKQLSFISPPTPQPKTPSSSQPERLPIGNTIQPSQAATFMNDAIEKARKAAELQ    141 - 210
ARIQAQLALKPGLIGNANMVGLANLHAMGIAPPKVELKDQTKPTPLILDEQGRTVDATGKEIELTHRMPT    211 - 280
LKANIRAVKREQFKQQLKEKPSEDMESNTFFDPRVSIAPSQRQRRTFKFHDKGKFEKIAQRLRTKAQLEK    281 - 350
LQAEISQAARKTGIHTSTRLALIAPKKELKEGDIPEIEWWDSYIIPNGFDLTEENPKREDYFGITNLVEH    351 - 420
PAQLNPPVDNDTPVTLGVYLTKKEQKKLRRQTRREAQKELQEKVRLGLMPPPEPKVRISNLMRVLGTEAV    421 - 490
QDPTKVEAHVRAQMAKRQKAHEEANAARKLTAEQRKVKKIKKLKEDISQGVHISVYRVRNLSNPAKKFKI    491 - 560
EANAGQLYLTGVVVLHKDVNVVVVEGGPKAQKKFKRLMLHRIKWDEQTSNTKGDDDEESDEEAVKKTNKC    561 - 630
VLVWEGTAKDRSFGEMKFKQCPTENMAREHFKKHGAEHYWDLALSESVLESTD                     631 - 683
//

Text Mined References (55)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
25383878 2014 Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosa.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23453885 2013 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22681889 2012 The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts.
22365833 2012 Dynamic protein-protein interaction wiring of the human spliceosome.
21516116 2011 Next-generation sequencing to generate interactome datasets.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
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.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20595234 2010 The Prp19 complex and the Usp4Sart3 deubiquitinating enzyme control reversible ubiquitination at the spliceosome.
20309403 2010 Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene.
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.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18553058 2008 Contribution of the individual subunits of protein kinase CK2 and of hPrp3p to the splicing process.
18395097 2008 EPS15R, TASP1, and PRPF3 are novel disease candidate genes targeted by HNF4alpha splice variants in hepatocellular carcinomas.
18318008 2008 Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography.
18211889 2008 Splicing factor SPF30 bridges an interaction between the prespliceosome protein U2AF35 and tri-small nuclear ribonucleoprotein protein hPrp3.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
18026141 2008 Protein kinase CK2 interacts with the splicing factor hPrp3p.
17932117 2008 Mutation in the splicing factor Hprp3p linked to retinitis pigmentosa impairs interactions within the U4/U6 snRNP complex.
17517693 2007 Mutations in splicing factor PRPF3, causing retinal degeneration, form detrimental aggregates in photoreceptor cells.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16723661 2006 The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16565220 2006 Phosphoproteome analysis of the human mitotic spindle.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15635413 2005 Nucleolar proteome dynamics.
15541726 2005 Association of PAP-1 and Prp3p, the products of causative genes of dominant retinitis pigmentosa, in the tri-snRNP complex.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15452143 2004 Detection of snRNP assembly intermediates in Cajal bodies by fluorescence resonance energy transfer.
15314151 2004 Human U4/U6 snRNP recycling factor p110: mutational analysis reveals the function of the tetratricopeptide repeat domain in recycling.
15257298 2004 RNAi knockdown of hPrp31 leads to an accumulation of U4/U6 di-snRNPs in Cajal bodies.
15085354 2004 Clinical features of a Japanese family with autosomal dominant retinitis pigmentosa associated with a Thr494Met mutation in the HPRP3 gene.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12875835 2003 Crystal structure of a complex between human spliceosomal cyclophilin H and a U4/U6 snRNP-60K peptide.
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.
12456665 2002 A novel function for human factor C1 (HCF-1), a host protein required for herpes simplex virus infection, in pre-mRNA splicing.
12374753 2002 Hierarchical, clustered protein interactions with U4/U6 snRNA: a biochemical role for U4/U6 proteins.
11971898 2002 Central region of the human splicing factor Hprp3p interacts with Hprp4p.
11823439 2002 A cyclophilin functions in pre-mRNA splicing.
11773002 2002 Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.
10713041 2000 Crystal structure of the human U4/U6 small nuclear ribonucleoprotein particle-specific SnuCyp-20, a nuclear cyclophilin.
9600251 1998 Refined genetic mapping of autosomal dominant retinitis pigmentosa locus RP18 reduces the critical region to 2 cM between D1S442 and D1S2858 on chromosome 1q.
9521884 1998 Mapping of the human HPRP3 and HPRP4 genes encoding U4/U6-associated splicing factors to chromosomes 1q21.1 and 9q31-q33.
9404889 1997 A new cyclophilin and the human homologues of yeast Prp3 and Prp4 form a complex associated with U4/U6 snRNPs.
9328476 1997 Identification and characterization of human genes encoding Hprp3p and Hprp4p, interacting components of the spliceosome.
8842740 1996 A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.