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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PRPF8 Gene

protein-coding   GIFtS: 63
GCID: GC17M001553

Pre-MRNA Processing Factor 8

(Previous names: PRP8 pre-mRNA processing factor 8 homolog (yeast), PRP8...)
(Previous symbol: RP13)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Pre-MRNA Processing Factor 81 2     HPRP82
RP131 2 5     PRP82
PRPC82 3 5     SNRNP2202
Splicing Factor Prp82 3     Apoptosis-Regulated Protein 12
220 KDa U5 SnRNP-Specific Protein2 3     Apoptosis-Regulated Protein 22
p2202 3     Pre-MRNA-Processing-Splicing Factor 82
PRP8 Homolog2 3     Precursor MRNA Processing Protein2
PRP8 Pre-MRNA Processing Factor 8 Homolog (S. Cerevisiae)1     PRP8 Pre-MRNA Processing Factor 8 Homolog2
PRP8 Pre-MRNA Processing Factor 8 Homolog (Yeast)1     U5 SnRNP-Specific Protein (220 KD), Ortholog Of S. Cerevisiae Prp8p2

External Ids:    HGNC: 173401   Entrez Gene: 105942   Ensembl: ENSG000001742317   OMIM: 6073005   UniProtKB: Q6P2Q93   

Export aliases for PRPF8 gene to outside databases

Previous GC identifers: GC17P001666 GC17M001889 GC17M001480 GC17M001760 GC17M001502 GC17M001503 GC17M001453


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PRPF8 Gene:
Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a
component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in
pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This
protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant
retinitis pigmentosa. (provided by RefSeq, Jul 2008)

GeneCards Summary for PRPF8 Gene: 
PRPF8 (pre-mRNA processing factor 8) is a protein-coding gene. Diseases associated with PRPF8 include prpf 8-related retinitis pigmentosa, and retinitis pigmentosa 13, and among its related super-pathways are mRNA Processing and Generic Transcription Pathway. GO annotations related to this gene include protein binding and RNA binding.

UniProtKB/Swiss-Prot: PRP8_HUMAN, Q6P2Q9
Function: Functions as a scaffold that mediates the ordered assembly of spliceosomal proteins and snRNAs. Required
for the assembly of the U4/U6-U5 tri-snRNP complex. Functions as scaffold that positions spliceosomal U2, U5 and
U6 snRNAs at splice sites on pre-mRNA substrates, so that splicing can occur. Interacts with both the 5' and the
3' splice site

Gene Wiki entry for PRPF8 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010718.16  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PRPF8 gene promoter:
         CHOP-10   AML1a   Pax-5   POU2F1   POU2F1a   Nkx2-2   CUTL1   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPRPF8 promoter sequence
   Search SABiosciences Chromatin IP Primers for PRPF8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRPF8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.3   Ensembl cytogenetic band:  17p13.3   HGNC cytogenetic band: 17p13.3

PRPF8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRPF8 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M001553:  view genomic region     (about GC identifiers)

Start:
1,553,923 bp from pter      End:
1,588,176 bp from pter
Size:
34,254 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PRP8_HUMAN, Q6P2Q9 (See protein sequence)
Recommended Name: Pre-mRNA-processing-splicing factor 8  
Size: 2335 amino acids; 273600 Da
Subunit: Part of the U5 snRNP complex. Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5
snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, DDX23, CD2BP2, PPIH, NHP2L1,
EFTUD2, SART1 and USP39. Component of the U5.U4atac/U6atac snRNP complexes in U12-dependent spliceosomes. Found
in a mRNA splicing-dependent exon junction complex (EJC) with SRRM1. Interacts with U5 snRNP proteins SNRP116 and
SNRNP40. Interacts with EFTUD2 and SNRNP200
Subcellular location: Nucleus speckle (By similarity)
6/15 PDB 3D structures from and Proteopedia for PRPF8 (see all 15):
3E9L (3D)        3ENB (3D)        3LRU (3D)        4JK7 (3D)        4JK8 (3D)        4JK9 (3D)    
Secondary accessions: O14547 O75965

Explore the universe of human proteins at neXtProt for PRPF8: NX_Q6P2Q9

Explore proteomics data for PRPF8 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6P2Q9

  • PRPF8 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PRPF8 Protein Expression
    REFSEQ proteins: NP_006436.3  
    ENSEMBL proteins: 
     ENSP00000459095   ENSP00000304350   ENSP00000460348   ENSP00000460849   ENSP00000458151  
    Reactome Protein details: Q6P2Q9
    Human Recombinant Protein Products for PRPF8: 
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PRPF8 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--
    GO:0005681spliceosomal complex ----
    GO:0005682U5 snRNP TAS9774689
    GO:0016607nuclear speck IEA--
    GO:0071013catalytic step 2 spliceosome IDA11991638

    PRPF8 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/8 InterPro protein domains (see all 8):
     IPR000555 JAB1_Mov34_MPN_PAD1
     IPR019581 Prp8_U5-snRNA-bd
     IPR012591 Pre-mRNA-splicing_factor-8
     IPR019580 Prp8_U6-snRNA-bd
     IPR012984 PRO_C

    Graphical View of Domain Structure for InterPro Entry Q6P2Q9

    ProtoNet protein and cluster: Q6P2Q9

    UniProtKB/Swiss-Prot: PRP8_HUMAN, Q6P2Q9
    Domain: The MPN (JAB/Mov34) domain has structural similarity with deubiquitinating enzymes, but lacks the residues
    that would bind the catalytic metal ion (By similarity)
    Domain: Contains a region with structural similarity to reverse transcripase, presenting the classical thumb,
    fingers and palm architecture, but lacks enzyme activity, since the essential metal-binding residues are not
    conserved (By similarity)
    Domain: Contains a region with structural similarity to type-2 restriction endonucleases, but the residues that
    would bind catalytic metal ions in endonucleases are instead involved in hydrogen bonds that stabilize the
    protein structure (By similarity)
    Domain: Contains a region with structural similarity to RNase H, but lacks RNase H activity (By similarity)
    Similarity: Contains 1 MPN (JAB/Mov34) domain


    PRPF8 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PRP8_HUMAN, Q6P2Q9
    Function: Functions as a scaffold that mediates the ordered assembly of spliceosomal proteins and snRNAs. Required
    for the assembly of the U4/U6-U5 tri-snRNP complex. Functions as scaffold that positions spliceosomal U2, U5 and
    U6 snRNAs at splice sites on pre-mRNA substrates, so that splicing can occur. Interacts with both the 5' and the
    3' splice site

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding ----
    GO:0005515protein binding IPI18951082
    GO:0017070U6 snRNA binding IEA--
    GO:0030623U5 snRNA binding IEA--
    GO:0046982protein heterodimerization activity ----
         
    PRPF8 for ontologies           About GeneDecksing


    Phenotypes:
         15 GenomeRNAi human phenotypes for PRPF8:
     Cell cycle / mitosis defect  Cell division defect  Decreased cell number, increas  Decreased homologous recombina 
     Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/  Decreased influenza A virus in  Decreased influenza A/WSN/33 r 
     Decreased viability of wild-ty  Increased cell death HMECs cel  Increased gamma-H2AX phosphory  Increased number of mitotic ce 
     Increased release from monastr  Synthetic lethal with c-Myc af  Wnt reporter downregulated 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Prpf8):
     pigmentation  vision/eye 

    PRPF8 for phenotypes           About GeneDecksing

    Animal Models:
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    hsa-miR-4282
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PRPF8 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    Processing of Capped Intron-Containing Pre-mRNA0.85
    mRNA processing0.46
    mRNA Processing0.85
    mRNA Splicing - Minor Pathway0.40
    mRNA Splicing - Major Pathway0.82
    Spliceosome0.31
    mRNA Splicing0.82
    2Generic Transcription Pathway
    Gene Expression0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for PRPF8
        mRNA processing

    5/6        Reactome Pathways for PRPF8 (see all 6)
        mRNA Splicing - Major Pathway
    mRNA Splicing
    Gene Expression
    mRNA Processing
    mRNA Splicing - Minor Pathway


    1         Kegg Pathway  (Kegg details for PRPF8):
        Spliceosome


    PRPF8 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PRPF8

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/1012 Interacting proteins for PRPF8 (Q6P2Q91, 2, 3 ENSP000003043504) via UniProtKB, MINT, STRING, and/or I2D (see all 1012)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SNRNP40Q96DI71, 2, 3, ENSP000002636944EBI-538479,EBI-538492 MINT-7945693 MINT-7947479 I2D: score=3 STRING: ENSP00000263694
    EFTUD2Q150291, 2, 3EBI-538479,EBI-357897 MINT-7945693 MINT-7947479 I2D: score=2 
    SNRPD3P623182, 3, ENSP000002158294MINT-7945693 MINT-7947479 I2D: score=6 STRING: ENSP00000215829
    PRPF6O949062, 3, ENSP000002660794MINT-7945693 MINT-7947479 I2D: score=5 STRING: ENSP00000266079
    DDX21Q9NR302, 3, ENSP000003461204MINT-7945693 MINT-8395092 I2D: score=2 STRING: ENSP00000346120
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000375RNA splicing, via transesterification reactions TAS9774689
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0006397mRNA processing TAS9774689
    GO:0008380RNA splicing TAS9774689
    GO:0010467gene expression TAS--

    PRPF8 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PRPF8 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PRPF8 (PRP8)

    7 Novoseek inferred chemical compound relationships for PRPF8 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ciap2 87.7 3 17972100 (1), 14724658 (1), 17208224 (1)
    palmitate 25.2 2 19290887 (1), 17431009 (1)
    rantes 15.1 1 14742640 (1)
    cycloheximide 0.43 2 11877293 (1)
    gtp 0 3 9233818 (1), 16540695 (1)
    nitric oxide 0 1 17956348 (1)
    cisplatin 0 1 11145600 (1)

    Search CenterWatch for drugs/clinical trials and news about PRPF8 / PRP8

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PRPF8 gene: 
    NM_006445.3  

    Unigene Cluster for PRPF8:

    PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)
    Hs.181368  [show with all ESTs]
    Unigene Representative Sequence: BX649099
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000571958 ENST00000304992(uc002fte.3) ENST00000572621 ENST00000572723
    ENST00000575116 ENST00000576585 ENST00000573681 ENST00000573725 ENST00000572445
    ENST00000574217 ENST00000577001 ENST00000576958 ENST00000576407 ENST00000573716
    ENST00000574728 ENST00000571346
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    Additional mRNA sequence: 

    AB007510.1 AF092565.1 AK058034.1 AK222905.1 AK296344.1 AY486134.1 AY486135.1 BC034545.1 
    BC064370.1 BX649099.1 

    24/34 DOTS entries (see all 34):

    DT.92326016  DT.91820973  DT.449047  DT.97774861  DT.95097462  DT.95077143  DT.87016817  DT.100887872 
    DT.121001235  DT.40256881  DT.100887884  DT.121001184  DT.95216105  DT.95341690  DT.100887879  DT.75113038 
    DT.91666210  DT.91719098  DT.95090218  DT.95097442  DT.121001170  DT.121001176  DT.121001220  DT.121001232 

    24/681 AceView cDNA sequences (see all 681):

    BU844603 BM549601 BU736701 BE772349 BQ717537 BM832109 BU948134 BC064370 
    BU783927 AL039202 T30981 BG696102 T16120 BE778219 BQ684756 BE882354 
    AA836935 BE779943 BU169625 BM677415 BE772328 BF083729 CF593901 AL576141 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PRPF8 expression in normal human tissues (normalized intensities)      PRPF8 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATATGAGC
    PRPF8 Expression
    About this image


    PRPF8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/27 selected tissues (see all 27) fully expand
     
     Epithelium (Reproductive System)    fully expand to see all 5 entries
             vagina ; squamous epithelial cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             testis ; cells in seminiferus ducts   
     
     Lung (Respiratory System)    fully expand to see all 3 entries
             lung ; pneumocytes   

    See PRPF8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PRPF8

    SOURCE GeneReport for Unigene cluster: Hs.181368

    UniProtKB/Swiss-Prot: PRP8_HUMAN, Q6P2Q9
    Tissue specificity: Widely expressed

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PRPF8 gene from 10/30 species (see all 30)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Prpf81 , 5 pre-mRNA processing factor 81, 5 90.71(n)1
    99.91(a)1
      11 (45.92 cM)5
    1921591  NM_138659.21  NP_619600.21 
     754868165 
    chicken
    (Gallus gallus)
    Aves PRPF81 PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) less 83.01(n)
    99.44(a)
      417559  XM_415805.3  XP_415805.2 
    lizard
    (Anolis carolinensis)
    Reptilia PRPF86
    Uncharacterized protein
    97(a)
    1 ↔ 1
    GL343393.1(127759-155437)
    African clawed frog
    (Xenopus laevis)
    Amphibia prp-8-prov2 pre-mRNA processing factor 8 80.33(n)    BC045266.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc565042 similar to pre-mRNA processing factor 8 80.86(n)   393951  BC049465.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG88773
    Prp81
    mRNA splicing pre-mRNA splicing factor3
    pre-mRNA processing factor 81
    94(a)3
    76.48(n)1
    91.82(a)1
      363041  NM_136891.31  NP_610735.11 
    worm
    (Caenorhabditis elegans)
    Secernentea prp-81 Protein PRP-8 71.44(n)
    87.01(a)
      176153  NM_066384.3  NP_498785.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PRP8(YHR165C)4
    PRP81
    Component of the U4/U6-U5 snRNP complex, involved in the second catalytic step of splicing; mutations of human Prp8 cause retinitis pigmentosa less4
    Prp8p1
    59.45(n)1
    63.4(a)1
      8(436948-429707)4
    8565701, 4  NP_012035.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons SUS21 Pre-mRNA-processing-splicing factor 71.38(n)
    83.42(a)
      844347  NM_106656.3  NP_178124.2 
    rice
    (Oryza sativa)
    Liliopsida Os.42092 Oryza sativa (japonica cultivar-group) cDNA cloneJ013095K10, full insert sequence less 75.68(n)    NM_185654.1 


    ENSEMBL Gene Tree for PRPF8 (if available)
    TreeFam Gene Tree for PRPF8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1076 SNPs in PRPF8 are shown (see all 1076)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0226324
    Retinitis pigmentosa 13 (RP13)4--see VAR_0226322 F L mis40--------
    VAR_0226264
    Retinitis pigmentosa 13 (RP13)4--see VAR_0226262 P T mis40--------
    VAR_0226314
    Retinitis pigmentosa 13 (RP13)4--see VAR_0226312 R K mis40--------
    VAR_0226334
    Retinitis pigmentosa 13 (RP13)4--see VAR_0226332 Y N mis40--------
    VAR_0226294
    Retinitis pigmentosa 13 (RP13)4--see VAR_0226292 H R mis40--------
    VAR_0226304
    Retinitis pigmentosa 13 (RP13)4--see VAR_0226302 R G mis40--------
    VAR_0226284
    Retinitis pigmentosa 13 (RP13)4--see VAR_0226282 H P mis40--------
    VAR_0226274
    Retinitis pigmentosa 13 (RP13)4--see VAR_0226272 F L mis40--------
    rs1850398291,2
    C--1555533(+) GACAGC/TCACTA 1 -- int10--------
    rs1450530691,2
    --1555586(+) GGAGTG/TCAGTG 1 -- int10--------

    HapMap Linkage Disequilibrium report for PRPF8 (1553923 - 1588176 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for PRPF8:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv907515CNV Loss21882294
    nsv907511CNV Loss21882294
    nsv907502CNV Loss21882294
    nsv907517CNV Loss21882294
    dgv3032n71CNV Loss21882294
    nsv907513CNV Loss21882294
    esv29703CNV Loss19812545
    nsv9490CNV Loss18304495
    nsv827856CNV Gain20364138


    Human Gene Mutation Database (HGMD): PRPF8

    Locus Specific Mutation Databases (LSDB): PRPF8
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PRPF8
    DNA2.0 Custom Variant and Variant Library Synthesis for PRPF8

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607300   
    OMIM disorders: 600059  
    UniProtKB/Swiss-Prot: PRP8_HUMAN, Q6P2Q9
  • Retinitis pigmentosa 13 (RP13) [MIM:600059]: A retinal dystrophy belonging to the group of pigmentary
    retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination
    and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically
    have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose
    their far peripheral visual field and eventually central vision as well. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 20/35 diseases for PRPF8 (see all 35):    About MalaCards
    prpf 8-related retinitis pigmentosa    retinitis pigmentosa 13    lissencephaly    retinitis pigmentosa
    carotid stenosis    rhyns syndrome    retinitis    retinal disease
    t-cell leukemia    sickle cell disease    human t-cell leukemia virus type 1    adult t-cell leukemia
    ataxia telangiectasia    polycystic ovary syndrome    oral squamous cell carcinoma    ulcerative colitis
    ataxia    blindness    periodontitis    nasopharyngitis

    1 disease from the University of Copenhagen DISEASES database for PRPF8:
    Retinitis pigmentosa

    PRPF8 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for PRPF8 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinitis pigmentosa 67 14 15126168 (2), 17473007 (2), 17317632 (2), 12714658 (2) (see all 6)
    necrosis 42.2 4 10233894 (1), 15187025 (1), 20356846 (1), 18635759 (1)
    tumors 31.3 5 10233894 (1), 15187025 (1), 16201850 (1), 20356846 (1) (see all 5)
    inflammation 13.7 1 12209092 (1)

    Genetic Association Database (GAD): PRPF8
    Human Genome Epidemiology (HuGE) Navigator: PRPF8 (4 documents)

    Export disorders for PRPF8 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PRPF8 gene, integrated from 9 sources (see all 225):
    (articles sorted by number of sources associating them with PRPF8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). (PubMed id 11468273)1, 2, 3 McKie A.B....Inglehearn C.F. (2001)
    2. The human Prp8 protein is a component of both U2- and U12-dependent spliceosomes. (PubMed id 10411133)1, 2, 3 Luo H.R.... Moore M.J. (1999)
    3. The C-terminal region of hPrp8 interacts with the conserved GU dinucleotide at the 5' splice site. (PubMed id 10024169)1, 2, 9 Reyes J.L.... Konarska M.M. (1999)
    4. Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa. (PubMed id 12714658)1, 2, 9 Martinez-Gimeno M.... Carballo M. (2003)
    5. Structure of a multipartite protein-protein interaction domain in splicing factor Prp8 and its link to retinitis pigmentosa. (PubMed id 17317632)1, 2, 9 Pena V.... Wahl M.C. (2007)
    6. Structure and function of an RNase H domain at the heart of the spliceosome. (PubMed id 18843295)1, 2, 9 Pena V....Wahl M.C. (2008)
    7. Domain analysis of human U5 RNA. Cap trimethylation, protein binding, and spliceosome assembly. (PubMed id 8702566)1, 2, 9 Hinz M.... Bindereif A. (1996)
    8. Prp8 protein: at the heart of the spliceosome. (PubMed id 15840809)1, 2, 9 Grainger R.J. and Beggs J.D. (2005)
    9. 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. (PubMed id 9774689)1, 2, 9 Achsel T.... Luehrmann R. (1998)
    10. Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10594 HGNC: 17340 AceView: PRPF8 Ensembl:ENSG00000174231 euGenes: HUgn10594
    ECgene: PRPF8 Kegg: 10594 H-InvDB: PRPF8

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PRPF8 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PRPF8

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PRPF8 gene:
    Search GeneIP for patents involving PRPF8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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