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

PRPF8 Gene

protein-coding   GIFtS: 61
GCID: GC17M001553

PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)

(Previous name: PRP8 pre-mRNA processing factor 8 homolog (yeast) )
(Previous symbol: RP13)
 Explore 36 diseases affiliated with
PRPF8 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PRPF8    

Aliases
for PRPF8 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
PRP8 Pre-MRNA Processing Factor 8 Homolog (S. Cerevisiae)1 2     PRP8 Pre-MRNA Processing Factor 8 Homolog (Yeast)1
PRPC81 2 3 5     HPRP82
RP131 2 5     PRP82
Splicing Factor Prp82 3     Apoptosis-Regulated Protein 12
220 KDa U5 SnRNP-Specific Protein2 3     Apoptosis-Regulated Protein 22
P2201     Pre-MRNA-Processing-Splicing Factor 82
PRP8 Homolog2 3     Precursor MRNA Processing Protein2
Prp81     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


Summaries
for PRPF8 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010718.16  
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 plasmid: PRPF8 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

Proteins
for PRPF8 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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)
3 PDB 3D structures from and Proteopedia for PRPF8:
3E9L (3D)        3ENB (3D)        3LRU (3D)    
Secondary accessions: O14547 O75965

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6P2Q9

    • PRPF8 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_006436.3  
    ENSEMBL proteins: 
     ENSP00000459095   ENSP00000304350   ENSP00000460348   ENSP00000460849   ENSP00000458151  
    Reactome Protein details: Q6P2Q9
    Human Recombinant Protein Products: 
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    Uscn 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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    Uscn ELISAs and CLIAs for PRPF8

    Protein Domains /
    Families
    for PRPF8 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PRPF8 for domains           About GeneDecksing

    5/8 InterPro domains/families (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


    Function
    for PRPF8 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    hsa-miR-4282
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI9774689


    PRPF8 for ontologies           About GeneDecksing


    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 

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

    PRPF8 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for PRPF8 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1mRNA Splicing - Major Pathway
    		mRNA Splicing1.00
    		mRNA processing0.48
    		mRNA Splicing - Major Pathway1.00
    		mRNA Splicing - Minor Pathway0.40
    		Processing of Capped Intron-Containing Pre-mRNA0.96
    		Spliceosome0.31
    		mRNA Processing0.82
    2Generic Transcription Pathway
    		Gene Expression0.46

    Pathway sources
    See GeneCards unified pathways
    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)

    5/972 Interacting proteins for PRPF8 (Q6P2Q91, 2, 3 ENSP000003043504) via UniProtKB, MINT, STRING, and/or I2D (see all 972)
    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 TAS--
    GO:0010467gene expression TAS--


    PRPF8 for ontologies           About GeneDecksing



    Drugs & Compounds
    for PRPF8 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
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    Browse Tocris compounds for PRPF8
    7 Novoseek 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 

    Transcripts
    for PRPF8 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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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    1 QIAGEN miScript miRNA Assays for microRNA that regulate PRPF8:
    hsa-miR-4282
    SwitchGear 3'UTR luciferase reporter plasmid: PRPF8 3' UTR sequence
    Inhib. RNA
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    Additional cDNA 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):

    BE882354 AF092565 BU619434 BI091313 AW247911 CR605208 BE779943 BU684251 
    BQ877381 T16120 CF593901 BM549601 BM015453 AW501135 BM832109 BU075695 
    BC034545 BG170123 CR624543 BE772328 AL040978 BF083729 BE772349 BI255132 

    GeneLoc Exon Structure


    Expression
    for PRPF8 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAATATGAGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    PRPF8 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneMandibular CondyleBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    for PRPF8 gene

    (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 10/41 species (see all 41)    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
    		 --
    		 98(a)
    		 1 ↔ 1
    		 GL343393.1(130279-155437)
    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
    for PRPF8 gene

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

    Genomic Variants
    for PRPF8 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/802 NCBI SNPs in PRPF8 are shown (see all 802)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 17 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1214342361,2
    		Cpathogenic1554178(-) GGTGCA/C/GCAGGC 4 H P R us2k1 mis10--------
    rs620880511,2
    		--1553492(+) TCTCTG/AGCCTC 2 -- us2k1 ds50012Minor allele frequency- A:0.05NA 122
    rs1833596191,2
    		--1553547(+) GACCAA/GGACTG 2 -- ds5001 us2k10--------
    rs1427615691,2
    		--1553553(+) GACTGA/GCACAG 2 -- us2k1 ds50010--------
    rs1160901441,2
    		--1553667(+) GAGAGC/TTTCCA 2 -- ds5001 us2k11Minor allele frequency- T:0.01WA 118
    rs1865445691,2
    		--1553691(+) AAAAAC/GCAGCA 2 -- ds5001 us2k10--------
    rs1913892091,2
    		--1553714(+) GCAGCA/GGAGTG 2 -- ds5001 us2k10--------
    rs1847479821,2
    		--1553765(+) GGCTAG/TCTACC 2 -- us2k1 ds50010--------
    rs1884198031,2
    		--1553792(+) GAAGGA/GGGCCT 2 -- ds5001 us2k10--------
    rs2000109111,2
    		--1553888(+) AGTTT-/GGGGGG 2 -- ds5001 us2k10--------

    HapMap Linkage Disequilibrium report for PRPF8 (1553923 - 1588176 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for PRPF8
         1 CNV: 72765
    Human Gene Mutation Database (HGMD): PRPF8

    Locus Specific Mutation Databases (LSDB): PRPF8

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PRPF8
    DNA2.0 Custom Variant and Variant Library Synthesis for PRPF8

    Disorders / Diseases
    for PRPF8 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    PRPF8 for disorders           About GeneDecksing

    OMIM gene information: 607300   
    OMIM disorders: 600059  
    UniProtKB/Swiss-Prot: PRP8_HUMAN, Q6P2Q9
  • Defects in PRPF8 are the cause of retinitis pigmentosa type 13 (RP13) [MIM:600059]. RP leads to degeneration
    • of retinal photoreceptor cells. 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. RP13
    inheritance is autosomal dominant

    20/36 diseases for PRPF8 (see all 36):    About MalaCards
    retinitis pigmentosa    miller-dieker lissencephaly    retinitis pigmentosa 13    retinitis
    human t-cell leukemia virus type 1    carotid stenosis    polycystic ovary syndrome    oral squamous cell carcinoma
    squamous cell carcinoma    lissencephaly    adult t-cell leukemia    sickle cell disease
    ataxia telangiectasia    ulcerative colitis    t-cell leukemia    multiple myeloma
    ptosis    myeloma    ataxia    retinal disease

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

    4 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: PRPF8 (4 documents)

    Export disorders for PRPF8 gene to outside databases

    Publications
    for PRPF8 gene

    (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 212):
    (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. The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP. (PubMed id 16723661)1, 2 Liu S.... Luehrmann R. (2006)

    External Searches for PRPF8 gene

    (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)

    Genome Databases showing PRPF8 gene

    (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

    Other Databases showing PRPF8 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PRPF8 gene

    (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

    Intellectual Property
    for PRPF8 gene

    (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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