Property Summary

NCBI Gene PubMed Count 60
PubMed Score 60.29
PubTator Score 75.47

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
ependymoma 1.100 3.6e-03
oligodendroglioma 1.500 2.0e-03
astrocytoma 1.800 9.2e-03
pancreatic ductal adenocarcinoma liver m... -1.417 1.9e-02
glioblastoma multiforme 1.100 2.3e-02
diabetes mellitus 2.600 1.8e-03
acute myeloid leukemia 2.300 2.2e-02
ovarian cancer 2.300 4.4e-06

Gene RIF (25)

PMID Text
26392272 Our findings exemplify the regulatory potential of changes in the core spliceosome machinery, which may be relevant to slow-onset human genetic diseases linked to PRPF8 deficiency
26385511 Most importantly between Prp8 and nucleotides at the exon-intron junction.
24969741 A mutation in a splicing factor PRPF8 that causes retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing.
24968230 Data suggest Enterovirus 3DPol (RNA-dependent RNA polymerase) enters nucleus via nuclear localization signal, targets pre-mRNA processing factor 8 (Prp8) to block pre-mRNA splicing/mRNA synthesis, and shuts off cellular transcription/translation.
23727230 In the cytoplasm, Prp8 forms a precursor complex with U5 snRNA
23704370 these data show how a Ski2-like RNA helicase Brr2 can be reversibly inhibited by a protein cofactor Prp8 that directly competes with RNA substrate binding.
23125841 Tandem affinity purification and mass spectrometry analysis identify PRP8 pre-Mrna processing factor 8 homolog (PRPF8), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into Staufen1 RNP complexes isolated from HIV-1-expressing cells
22174317 Tandem affinity purification and mass spectrometry analysis identify PRP8 pre-Mrna processing factor 8 homolog (PRPF8), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into Staufen1 RNP complexes isolated from HIV-1-expressing cells
22039234 This is the first report of marked intrafamilial variability associated with mutations in the PRPF8 gene, including incomplete penetrance. PRPF8 mutations should be suspected in patients with autosomal dominant retinitis pigmentosa.
21378395 RP-PRPF defects affect the stoichiometry of spliceosomal small nuclear RNAs. Depleting PRPF8 in human cell lines alters alternative splicing.
20801516 Observational study of genetic testing. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20232351 Data screened retinitis pigmentosa patients for PRPF8 mutations and identified three new missense mutations, including the first documented mutation outside exon 42 and the first de novo mutation.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19454010 Tandem affinity purification and mass spectrometry analysis identify PRP8 pre-Mrna processing factor 8 homolog (PRPF8), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into Staufen1 RNP complexes isolated from HIV-1-expressing cells
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.
18854154 Knockdown of PRP8 pre-mRNA processing factor 8 homolog (PRPF8) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1
18843295 Crystal structures of corresponding portions of yeast and human Prp8 that interact with functional regions of the pre-mRNA were determined, revealing a phylogenetically conserved RNase H fold, augmented by Prp8-specific elements.
18695108 The severe form of autosomal dominant retinitis pigmentosa (adRP) was caused by the PRPF8 H2309R variant, whereas the IVS41-4G-->A variant was benign.
17317632 The expanded Prp8 Jab1/MPN domain represents a pseudoenzyme converted into a protein-protein interaction platform and that dysfunction of this platform underlies Retinitis pigmentosa.
17061239 The PRPF8 gene mutation is associated with a mild phenotype in which cone function is partially preserved.
15786732 The gene for apoptosis regulated protein 2 (ARP2) overexpressed in apoptosis induced prostate cancer cell line LNCaP was cloned.
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.
12601059 mutations revealed a novel insertion and deletion in the last exon of a splicing factor gene, PRPF8.
11910553 Mutations in PRPC8 is associated with autosomal dominant retinitis pigmentosa

AA Sequence

MAGVFPYRGPGNPVPGPLAPLPDYMSEEKLQEKARKWQQLQAKRYAEKRKFGFVDAQKEDMPPEHVRKII      1 - 70
RDHGDMTNRKFRHDKRVYLGALKYMPHAVLKLLENMPMPWEQIRDVPVLYHITGAISFVNEIPWVIEPVY     71 - 140
ISQWGSMWIMMRREKRDRRHFKRMRFPPFDDEEPPLDYADNILDVEPLEAIQLELDPEEDAPVLDWFYDH    141 - 210
QPLRDSRKYVNGSTYQRWQFTLPMMSTLYRLANQLLTDLVDDNYFYLFDLKAFFTSKALNMAIPGGPKFE    211 - 280
PLVRDINLQDEDWNEFNDINKIIIRQPIRTEYKIAFPYLYNNLPHHVHLTWYHTPNVVFIKTEDPDLPAF    281 - 350
YFDPLINPISHRHSVKSQEPLPDDDEEFELPEFVEPFLKDTPLYTDNTANGIALLWAPRPFNLRSGRTRR    351 - 420
ALDIPLVKNWYREHCPAGQPVKVRVSYQKLLKYYVLNALKHRPPKAQKKRYLFRSFKATKFFQSTKLDWV    421 - 490
EVGLQVCRQGYNMLNLLIHRKNLNYLHLDYNFNLKPVKTLTTKERKKSRFGNAFHLCREVLRLTKLVVDS    491 - 560
HVQYRLGNVDAFQLADGLQYIFAHVGQLTGMYRYKYKLMRQIRMCKDLKHLIYYRFNTGPVGKGPGCGFW    561 - 630
AAGWRVWLFFMRGITPLLERWLGNLLARQFEGRHSKGVAKTVTKQRVESHFDLELRAAVMHDILDMMPEG    631 - 700
IKQNKARTILQHLSEAWRCWKANIPWKVPGLPTPIENMILRYVKAKADWWTNTAHYNRERIRRGATVDKT    701 - 770
VCKKNLGRLTRLYLKAEQERQHNYLKDGPYITAEEAVAVYTTTVHWLESRRFSPIPFPPLSYKHDTKLLI    771 - 840
LALERLKEAYSVKSRLNQSQREELGLIEQAYDNPHEALSRIKRHLLTQRAFKEVGIEFMDLYSHLVPVYD    841 - 910
VEPLEKITDAYLDQYLWYEADKRRLFPPWIKPADTEPPPLLVYKWCQGINNLQDVWETSEGECNVMLESR    911 - 980
FEKMYEKIDLTLLNRLLRLIVDHNIADYMTAKNNVVINYKDMNHTNSYGIIRGLQFASFIVQYYGLVMDL    981 - 1050
LVLGLHRASEMAGPPQMPNDFLSFQDIATEAAHPIRLFCRYIDRIHIFFRFTADEARDLIQRYLTEHPDP   1051 - 1120
NNENIVGYNNKKCWPRDARMRLMKHDVNLGRAVFWDIKNRLPRSVTTVQWENSFVSVYSKDNPNLLFNMC   1121 - 1190
GFECRILPKCRTSYEEFTHKDGVWNLQNEVTKERTAQCFLRVDDESMQRFHNRVRQILMASGSTTFTKIV   1191 - 1260
NKWNTALIGLMTYFREAVVNTQELLDLLVKCENKIQTRIKIGLNSKMPSRFPPVVFYTPKELGGLGMLSM   1261 - 1330
GHVLIPQSDLRWSKQTDVGITHFRSGMSHEEDQLIPNLYRYIQPWESEFIDSQRVWAEYALKRQEAIAQN   1331 - 1400
RRLTLEDLEDSWDRGIPRINTLFQKDRHTLAYDKGWRVRTDFKQYQVLKQNPFWWTHQRHDGKLWNLNNY   1401 - 1470
RTDMIQALGGVEGILEHTLFKGTYFPTWEGLFWEKASGFEESMKWKKLTNAQRSGLNQIPNRRFTLWWSP   1471 - 1540
TINRANVYVGFQVQLDLTGIFMHGKIPTLKISLIQIFRAHLWQKIHESIVMDLCQVFDQELDALEIETVQ   1541 - 1610
KETIHPRKSYKMNSSCADILLFASYKWNVSRPSLLADSKDVMDSTTTQKYWIDIQLRWGDYDSHDIERYA   1611 - 1680
RAKFLDYTTDNMSIYPSPTGVLIAIDLAYNLHSAYGNWFPGSKPLIQQAMAKIMKANPALYVLRERIRKG   1681 - 1750
LQLYSSEPTEPYLSSQNYGELFSNQIIWFVDDTNVYRVTIHKTFEGNLTTKPINGAIFIFNPRTGQLFLK   1751 - 1820
IIHTSVWAGQKRLGQLAKWKTAEEVAALIRSLPVEEQPKQIIVTRKGMLDPLEVHLLDFPNIVIKGSELQ   1821 - 1890
LPFQACLKVEKFGDLILKATEPQMVLFNLYDDWLKTISSYTAFSRLILILRALHVNNDRAKVILKPDKTT   1891 - 1960
ITEPHHIWPTLTDEEWIKVEVQLKDLILADYGKKNNVNVASLTQSEIRDIILGMEISAPSQQRQQIAEIE   1961 - 2030
KQTKEQSQLTATQTRTVNKHGDEIITSTTSNYETQTFSSKTEWRVRAISAANLHLRTNHIYVSSDDIKET   2031 - 2100
GYTYILPKNVLKKFICISDLRAQIAGYLYGVSPPDNPQVKEIRCIVMVPQWGTHQTVHLPGQLPQHEYLK   2101 - 2170
EMEPLGWIHTQPNESPQLSPQDVTTHAKIMADNPSWDGEKTIIITCSFTPGSCTLTAYKLTPSGYEWGRQ   2171 - 2240
NTDKGNNPKGYLPSHYERVQMLLSDRFLGFFMVPAQSSWNYNFMGVRHDPNMKYELQLANPKEFYHEVHR   2241 - 2310
PSHFLNFALLQEGEVYSADREDLYA                                                2311 - 2335
//

Text Mined References (73)

PMID Year Title
26711270 2015 A Novel Interaction of Ecdysoneless (ECD) Protein with R2TP Complex Component RUVBL1 Is Required for the Functional Role of ECD in Cell Cycle Progression.
26392272 2015 Regulation of constitutive and alternative mRNA splicing across the human transcriptome by PRPF8 is determined by 5' splice site strength.
26385511 2015 Stable tri-snRNP integration is accompanied by a major structural rearrangement of the spliceosome that is dependent on Prp8 interaction with the 5' splice site.
24969741 2014 A mutation in a splicing factor that causes retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing.
24968230 2014 Cytoplasmic viral RNA-dependent RNA polymerase disrupts the intracellular splicing machinery by entering the nucleus and interfering with Prp8.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24129315 2014 Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.
23727230 2013 Structural basis of Brr2-Prp8 interactions and implications for U5 snRNP biogenesis and the spliceosome active site.
23704370 2013 Inhibition of RNA helicase Brr2 by the C-terminal tail of the spliceosomal protein Prp8.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22720776 2012 PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex.
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.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
22039234 2011 Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.
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.
20705733 2010 Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
20696395 2010 Conserved beta-hairpin recognition by the GYF domains of Smy2 and GIGYF2 in mRNA surveillance and vesicular transport complexes.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20595234 2010 The Prp19 complex and the Usp4Sart3 deubiquitinating enzyme control reversible ubiquitination at the spliceosome.
20232351 2010 Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19946888 2010 Defining the membrane proteome of NK cells.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19096719 2008 Evaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa.
18951082 2008 Death by splicing: tumor suppressor RBM5 freezes splice-site pairing.
18843295 2008 Structure and function of an RNase H domain at the heart of the spliceosome.
18836455 2008 Structural elucidation of a PRP8 core domain from the heart of the spliceosome.
18695108 2008 Phenotypic expression of a PRPF8 gene mutation in a Large African American family.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18220336 2008 Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.
17525332 2007 ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17317632 2007 Structure of a multipartite protein-protein interaction domain in splicing factor prp8 and its link to retinitis pigmentosa.
17061239 Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene.
16723661 2006 The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15840809 2005 Prp8 protein: at the heart of the spliceosome.
15786732 2005 ARP2 a novel protein involved in apoptosis of LNCaP cells shares a high degree homology with splicing factor Prp8.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12840015 2003 Nuclear coactivator-62 kDa/Ski-interacting protein is a nuclear matrix-associated coactivator that may couple vitamin D receptor-mediated transcription and RNA splicing.
12714658 2003 Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.
12601059 2003 Diagnosis of autosomal dominant retinitis pigmentosa by linkage-based exclusion screening with multiple locus-specific microsatellite markers.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12226669 2002 Comprehensive proteomic analysis of the human spliceosome.
11991638 2002 Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis.
11971955 2002 Human U4/U6.U5 and U4atac/U6atac.U5 tri-snRNPs exhibit similar protein compositions.
11910553 2002 Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13).
11468273 2001 Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).
11006293 2000 A general approach for identification of RNA-protein cross-linking sites within native human spliceosomal small nuclear ribonucleoproteins (snRNPs). Analysis of RNA-protein contacts in native U1 and U4/U6.U5 snRNPs.
10983979 2000 Functional recognition of 5' splice site by U4/U6.U5 tri-snRNP defines a novel ATP-dependent step in early spliceosome assembly.
10828595 2000 Expression map of human chromosome region 17p13.3, spanning the RP13 dominant retinitis pigmentosa locus, the Miller-Dieker lissencephaly syndrome (MDLS) region, and a putative tumour suppressor locus.
10809668 2000 Pre-mRNA splicing alters mRNP composition: evidence for stable association of proteins at exon-exon junctions.
10411133 1999 The human Prp8 protein is a component of both U2- and U12-dependent spliceosomes.
10024169 1999 The C-terminal region of hPrp8 interacts with the conserved GU dinucleotide at the 5' splice site.
9774689 1998 The human U5-220kD protein (hPrp8) forms a stable RNA-free complex with several U5-specific proteins, including an RNA unwindase, a homologue of ribosomal elongation factor EF-2, and a novel WD-40 protein.
9303319 1997 Evidence that U5 snRNP recognizes the 3' splice site for catalytic step II in mammals.
8702566 1996 Domain analysis of human U5 RNA. Cap trimethylation, protein binding, and spliceosome assembly.
8608445 1996 The canonical GU dinucleotide at the 5' splice site is recognized by p220 of the U5 snRNP within the spliceosome.
8571961 1996 Map refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosa.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
7951236 1994 A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17.
7573060 1995 Fine localization of the locus for autosomal dominant retinitis pigmentosa on chromosome 17p.
7489518 1995 Prp16p, Slu7p, and Prp8p interact with the 3' splice site in two distinct stages during the second catalytic step of pre-mRNA splicing.
2532307 1989 Conservation between yeast and man of a protein associated with U5 small nuclear ribonucleoprotein.
2527369 1989 20S small nuclear ribonucleoprotein U5 shows a surprisingly complex protein composition.
2479028 1989 The mammalian analogue of the yeast PRP8 splicing protein is present in the U4/5/6 small nuclear ribonucleoprotein particle and the spliceosome.
2139226 1990 A mammalian protein of 220 kDa binds pre-mRNAs in the spliceosome: a potential homologue of the yeast PRP8 protein.