Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

PRPF31 Gene

protein-coding   GIFtS: 66
GCID: GC19P054618

Pre-MRNA Processing Factor 31

(Previous names: PRP31 pre-mRNA processing factor 31 homolog (yeast), PRP31...)
(Previous symbol: RP11)
  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 311 2     U4/U6 SnRNP 61 KDa Protein2 3
RP111 2 5     PRP31 Pre-MRNA Processing Factor 31 Homolog (S. Cerevisiae)1
PRP312 3 5     PRP31 Pre-MRNA Processing Factor 31 Homolog (Yeast)1
Pre-MRNA-Processing Factor 312 3     NY-BR-992
Protein 61K2 3     SNRNP612
Serologically Defined Breast Cancer Antigen NY-BR-992 3     PRP31 Pre-MRNA Processing Factor 31 Homolog2
hPrp312 3     U4/U6 Small Nuclear Ribonucleoprotein Prp312

External Ids:    HGNC: 154461   Entrez Gene: 261212   Ensembl: ENSG000001056187   OMIM: 6064195   UniProtKB: Q8WWY33   

Export aliases for PRPF31 gene to outside databases

Previous GC identifers: GC19P055264 GC19P055043 GC19P059294 GC19P059310 GC19P050934


(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 PRPF31 Gene:
This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes.
When the gene product is added to the spliceosome complex, activation occurs.(provided by RefSeq, Jan 2009)

GeneCards Summary for PRPF31 Gene: 
PRPF31 (pre-mRNA processing factor 31) is a protein-coding gene. Diseases associated with PRPF31 include retinitis pigmentosa 11, and prpf31-related retinitis pigmentosa, and among its related super-pathways are mRNA Splicing - Major Pathway. GO annotations related to this gene include snRNP binding and RNA binding.

UniProtKB/Swiss-Prot: PRP31_HUMAN, Q8WWY3
Function: Involved in pre-mRNA splicing. Required for the assembly of the U4/U5/U6 tri-snRNP complex, one of the
building blocks of the spliceosome

Gene Wiki entry for PRPF31 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_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PRPF31 gene promoter:
         AML1a   Pax-2   Pax-2a   c-Ets-1   YY1   AREB6   PPAR-gamma1   COMP1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPRPF31 promoter sequence
   Search SABiosciences Chromatin IP Primers for PRPF31

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRPF31


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

Entrez Gene cytogenetic band: 19q13.42   Ensembl cytogenetic band:  19q13.42   HGNC cytogenetic band: 19q13.4

PRPF31 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRPF31 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P054618:  view genomic region     (about GC identifiers)

Start:
54,618,790 bp from pter      End:
54,635,150 bp from pter
Size:
16,361 bases      Orientation:
plus strand

6/8 alternative locations (see all 8):
Chr19+,NW_003571059 89,903-106,263      Chr19+,NW_003571054 89,903-106,263      Chr19+,NW_003571057 89,903-106,263     
Chr19+,NW_003571056 89,903-106,263      Chr19+,NW_003571060 89,903-106,263      Chr19+,NW_003571061 89,903-106,263     

(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: PRP31_HUMAN, Q8WWY3 (See protein sequence)
Recommended Name: U4/U6 small nuclear ribonucleoprotein Prp31  
Size: 499 amino acids; 55456 Da
Subunit: 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.
Interacts with a complex formed by NHP2L1 and U4 snRNA, but not with NHP2L1 or U4 snRNA alone. Interacts with
PRPF6/U5 snRNP-associated 102 kDa protein. Component of some MLL1/MLL complex, at least composed of the core
components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8,
E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A,
RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Interacts (via its NLS) with CTNNBL1
Subcellular location: Nucleus speckle. Nucleus, Cajal body. Note=Predominantly found in speckles and in Cajal
bodies
3 PDB 3D structures from and Proteopedia for PRPF31:
2OZB (3D)        3SIU (3D)        3SIV (3D)    
Secondary accessions: Q17RB4 Q8N7F9 Q9H271 Q9Y439
Alternative splicing: 3 isoforms:  Q8WWY3-1   Q8WWY3-2   Q8WWY3-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PRPF31: NX_Q8WWY3

Explore proteomics data for PRPF31 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8WWY3

  • PRPF31 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PRPF31 Protein Expression
    REFSEQ proteins: NP_056444.3  
    ENSEMBL proteins: 
     ENSP00000324122   ENSP00000395894   ENSP00000408980   ENSP00000395089   ENSP00000375635  
     ENSP00000405166  

    Human Recombinant Protein Products for PRPF31: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for PRPF31
    OriGene Protein Over-expression Lysate for PRPF31
    OriGene MassSpec for PRPF31 
    OriGene Custom Protein Services for PRPF31
    GenScript Custom Purified and Recombinant Proteins Services for PRPF31
    Novus Biologicals PRPF31 Proteins
    Novus Biologicals PRPF31 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PRPF31 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005684U2-type spliceosomal complex IC17412961
    GO:0005687U4 snRNP IDA17412961
    GO:0005690U4atac snRNP TAS17412961
    GO:0015030Cajal body IDA11867543

    PRPF31 for ontologies           About GeneDecksing



    PRPF31 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for PRPF31
    OriGene Custom Antibody Services for PRPF31
    GenScript Custom Superior Antibodies Services for PRPF31
    Novus Biologicals PRPF31 Antibodies
    Abcam antibodies for PRPF31
    Cloud-Clone Corp. Antibodies for PRPF31 
    ThermoFisher Antibodies for PRPF31
    LSBio Antibodies in human, mouse, rat for PRPF31 

    Assay Products for PRPF31: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for PRPF31
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PRPF31
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PRPF31 
    Cloud-Clone Corp. CLIAs for PRPF31


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR027105 Prp31
     IPR002687 Nop_dom
     IPR012976 NOSIC
     IPR019175 Prp31_C

    Graphical View of Domain Structure for InterPro Entry Q8WWY3

    ProtoNet protein and cluster: Q8WWY3

    2 Blocks protein domains:
    IPB002687 Pre-mRNA processing ribonucleoprotein
    IPB012976 NOSIC


    UniProtKB/Swiss-Prot: PRP31_HUMAN, Q8WWY3
    Domain: Interacts with the snRNP via the Nop domain
    Domain: The coiled coil domain is formed by two non-contiguous helices
    Similarity: Belongs to the PRP31 family
    Similarity: Contains 1 Nop domain


    PRPF31 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: PRP31_HUMAN, Q8WWY3
    Function: Involved in pre-mRNA splicing. Required for the assembly of the U4/U5/U6 tri-snRNP complex, one of the
    building blocks of the spliceosome

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI--
    GO:0043021ribonucleoprotein complex binding IDA11867543
    GO:0070990snRNP binding IPI17412961
         
    PRPF31 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for PRPF31:
     Decreased influenza A virus in  Decreased viability  Increased gamma-H2AX phosphory 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Prpf31):
     mortality/aging  pigmentation  vision/eye 

    PRPF31 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Prpf31tm1.1Bha for PRPF31

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PRPF31 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PRPF31

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PRPF31 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PRPF31 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PRPF31
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate PRPF31
    SwitchGear 3'UTR luciferase reporter plasmidPRPF31 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PRPF31
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PRPF31

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PRPF31
    Sirion Biotech Customized adenovirus for overexpression of PRPF31

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for PRPF31 (see all 7)
    OriGene ORF clones in mouse, rat for PRPF31
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PRPF31 (NM_015629)
    Sino Biological Human cDNA Clone for PRPF31
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PRPF31
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PRPF31
    Sirion Biotech Customized lentivirus for stable overexpression of PRPF31 
                         Customized lentivirus expression plasmids for stable overexpression of PRPF31 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PRPF31
    Search LifeMap BioReagents cell lines for PRPF31
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRPF31


    (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 PRPF31 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    Spliceosome0.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1         Kegg Pathway  (Kegg details for PRPF31):
        Spliceosome


    PRPF31 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PRPF31

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

    5/159 Interacting proteins for PRPF31 (Q8WWY32, 3 ENSP000003241224) via UniProtKB, MINT, STRING, and/or I2D (see all 159)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRPF6O949062, 3, ENSP000002660794MINT-8331734 MINT-8336133 I2D: score=5 STRING: ENSP00000266079
    ENSG00000172850Q9Y3333I2D: score=4 
    ENSG00000224979Q9Y3333I2D: score=4 
    ENSG00000225998Q9Y3333I2D: score=4 
    ENSG00000231502Q9Y3333I2D: score=4 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000244assembly of spliceosomal tri-snRNP IMP15257298
    GO:0000398mRNA splicing, via spliceosome IDA11867543

    PRPF31 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PRPF31 (PRP31)

    Search CenterWatch for drugs/clinical trials and news about PRPF31 / PRP31

    (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 PRPF31 gene: 
    NM_015629.3  

    Unigene Cluster for PRPF31:

    PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)
    Hs.515598  [show with all ESTs]
    Unigene Representative Sequence: AB593024
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000321030(uc002qdh.2 uc010yek.1 uc021vbi.1) ENST00000445811
    ENST00000445124 ENST00000447810 ENST00000391755 ENST00000467851 ENST00000466404
    ENST00000498612 ENST00000419967
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PRPF31
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate PRPF31
    SwitchGear 3'UTR luciferase reporter plasmidPRPF31 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PRPF31
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PRPF31
    Clone
    Products:
         
    OriGene clones in human, mouse for PRPF31 (see all 7)
    OriGene ORF clones in mouse, rat for PRPF31
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PRPF31 (NM_015629)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PRPF31
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PRPF31
    Sirion Biotech Customized lentivirus for stable overexpression of PRPF31 
                         Customized lentivirus expression plasmids for stable overexpression of PRPF31 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for PRPF31
    OriGene qSTAR qPCR primer pairs in human, mouse for PRPF31
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PRPF31
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PRPF31
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PRPF31

    Additional mRNA sequence: 

    AB593024.1 AB593025.1 AF308303.1 AK091105.1 AK098547.1 AK301709.1 AL050369.1 AY040822.1 
    BC117389.1 

    10 DOTS entries:

    DT.447997  DT.97845460  DT.453078  DT.100801697  DT.121451857  DT.80100470  DT.100801691  DT.92030994 
    DT.95278253  DT.97855108 

    24/503 AceView cDNA sequences (see all 503):

    BF434647 BQ068584 BQ651173 BF590834 BM469117 AW615662 BQ420267 BQ668722 
    BE206993 BE504808 BE222798 BP352773 BQ053446 BQ071892 CA946874 AI184489 
    BM708014 AI655119 BF448040 BE731413 AW135937 BM708859 BE858623 CA432351 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for PRPF31    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
    SP1:                                      -                                                                           
    SP2:                                                                                                                  
    SP3:                                      -                                                                           
    SP4:                                                                                                                  


    ECgene alternative splicing isoforms for PRPF31

    (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

    PRPF31 expression in normal human tissues (normalized intensities)      PRPF31 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTTGTCTTT
    PRPF31 Expression
    About this image


    PRPF31 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/34 selected tissues (see all 34) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular 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

    See PRPF31 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PRPF31

    SOURCE GeneReport for Unigene cluster: Hs.515598

    UniProtKB/Swiss-Prot: PRP31_HUMAN, Q8WWY3
    Tissue specificity: Ubiquitously expressed

        SABiosciences Custom PCR Arrays for PRPF31
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for PRPF31
    OriGene qSTAR qPCR primer pairs in human, mouse for PRPF31
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PRPF31
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PRPF31
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PRPF31
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRPF31

    (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 PRPF31 gene from 9/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Prpf311 , 5 PRP31 pre-mRNA processing factor 31 homolog (yeast)1, 5 89.58(n)1
    99(a)1
      7 (2.09 cM)5
    689881  NM_027328.41  NP_081604.31 
     36299855 
    lizard
    (Anolis carolinensis)
    Reptilia PRPF316
    Uncharacterized protein
    95(a)
    1 ↔ 1
    GL343279.1(1542269-1554736)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.58942 Xenopus laevis transcribed sequence with moderate similarity more 74.95(n)    CA787914.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc661772 hypothetical protein MGC66177 79.05(n)   393476  BC052224.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG68763
    Prp311
    mRNA splicing pre-mRNA splicing factor3
    CG6876-PA1
    63(a)3
    64.21(n)1
    62.09(a)1
      71B63
    396551  NM_140499.21  NP_648756.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y110A7A.83
    prp-311
    mRNA splicing protein3
    Protein PRP-311
    47(a)3
    50.68(n)1
    47.34(a)1
      I(5127854-5129538)3
    1721461  NM_059126.41  NP_491527.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PRP31(YGR091W)4 Splicing factor, component of the U4/U6-U5 snRNP complex   --   7(666341-667825) 852983  NP_011605.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons emb12201 U4/U6 small nuclear ribonucleoprotein PRP31 51.33(n)
    47.27(a)
      842312  NM_104707.3  NP_564754.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g05554001 hypothetical protein 51.55(n)
    48.95(a)
      4336619  NM_001060051.1  NP_001053516.1 


    ENSEMBL Gene Tree for PRPF31 (if available)
    TreeFam Gene Tree for PRPF31 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PRPF31 gene
    1 SIMAP similar gene for PRPF31 using alignment to 10 protein entries:     PRP31_HUMAN (see all proteins):
    NOP56

    PRPF31 for paralogs           About GeneDecksing



    (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

    10/633 SNPs in PRPF31 are shown (see all 633)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0256304
    Retinitis pigmentosa 11 (RP11)4--see VAR_0256302 A E mis40--------
    VAR_0256314
    Retinitis pigmentosa 11 (RP11)4--see VAR_0256312 A P mis40--------
    rs1194750421,2
    Cpathogenic154786896(+) TCATCA/C/GCACCC 2 P A mis11NA 4552
    rs104172211,2
    C,A--50948113(+) CTCCCC/TCCCCC 1 -- int1 trp32Minor allele frequency- T:0.00NA WA 4
    rs560791201,2
    C--50948118(+) CCCCC-/GCCGGC 1 -- int10--------
    rs1441734671,2
    C,F--54628889(+) aaaaa-/A/ACAAG/
    CAAG
    /CAAGG
    CAAGA
    9 -- int12NA 4
    rs561294761,2
    C--54633467(+) AGATGC/TCCAGT 9 -- int11Minor allele frequency- T:0.50NA 2
    rs2542501,2
    C,F,H--54633498(+) CAGGCC/TGGGCG 1 -- int16Minor allele frequency- T:0.44NA 16
    rs110843121,2
    C,A,H--54633610(+) CAGGCC/TGGGCG 1 -- int11Minor allele frequency- T:0.50NA 2
    rs2542491,2
    C,F--54633666(+) CAGGCT/CGGGCG 9 -- int13Minor allele frequency- C:0.33NA 6

    HapMap Linkage Disequilibrium report for PRPF31 (54618790 - 54635150 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for PRPF31:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1131677CNV Deletion17803354
    esv2718812CNV Deletion23290073
    nsv2545CNV Insertion18451855
    nsv2543CNV Insertion18451855
    nsv515623CNV Loss19592680
    nsv470157CNV Loss18288195
    nsv510773CNV Loss20534489
    nsv833877CNV Loss17160897
    dgv4002n71CNV Loss21882294
    dgv4001n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): PRPF31

    Locus Specific Mutation Databases (LSDB): PRPF31
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PRPF31
    DNA2.0 Custom Variant and Variant Library Synthesis for PRPF31

    (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: 606419   
    OMIM disorders: 600138  
    UniProtKB/Swiss-Prot: PRP31_HUMAN, Q8WWY3
  • Retinitis pigmentosa 11 (RP11) [MIM:600138]: 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

  • 14 diseases for PRPF31:    About MalaCards
    retinitis pigmentosa 11    prpf31-related retinitis pigmentosa    retinitis pigmentosa    retinal disease
    breast cancer    rhyns syndrome    night blindness    retinitis
    gout    blindness    intellectual disability    fanconi's anemia
    anemia    ovarian cancer

    1 disease from the University of Copenhagen DISEASES database for PRPF31:
    Retinitis pigmentosa

    PRPF31 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for PRPF31 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinitis pigmentosa 90.6 27 17325180 (3), 11867543 (2), 18552984 (2), 17295140 (2) (see all 14)

    Genetic Association Database (GAD): PRPF31
    Human Genome Epidemiology (HuGE) Navigator: PRPF31 (4 documents)

    Export disorders for PRPF31 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 PRPF31 gene, integrated from 9 sources (see all 88):
    (articles sorted by number of sources associating them with PRPF31)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). (PubMed id 11545739)1, 2, 3, 9 Vithana E.N.... Bhattacharya S.S. (2001)
    2. Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India. (PubMed id 18552984)1, 4, 9 Gandra M....Govindasamy K. (2008)
    3. Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa. (PubMed id 17325180)1, 4, 9 Waseem N.H....Bhattacharya S.S. (2007)
    4. 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. (PubMed id 11867543)1, 2, 9 Makarova O.V.... Luehrmann R. (2002)
    5. CTNNBL1 is a novel nuclear localization sequence-bind ing protein that recognizes RNA-splicing factors CDC5L and Prp31. (PubMed id 21385873)1, 2 Ganesh K....Neuberger M. (2011)
    6. 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)
    7. Novel PRPF31 and PRPH2 mutations and co-occurrence of PRPF31 and RHO mutations in Chinese patients with retinitis pigmentosa. (PubMed id 19506198)1, 4 Lim K.P....To C.H. (2009)
    8. Binding of the human Prp31 Nop domain to a composite RNA-protein platform in U4 snRNP. (PubMed id 17412961)1, 2 Liu S....Wahl M.C. (2007)
    9. The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP. (PubMed id 16723661)1, 2 Liu S.... Luehrmann R. (2006)
    10. Physical association and coordinate function of the H3 K4 methyltransferase MLL1 and the H4 K16 acetyltransferase MOF. (PubMed id 15960975)1, 2 Dou Y.... Roeder R.G. (2005)

    (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: 26121 HGNC: 15446 AceView: PRPF31 Ensembl:ENSG00000105618 euGenes: HUgn26121
    ECgene: PRPF31 Kegg: 26121 H-InvDB: PRPF31

    (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 PRPF31 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PRPF31 gene:
    Search GeneIP for patents involving PRPF31

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for PRPF31   OriGene RNAi products in human, mouse, rat for PRPF31  
     OriGene qPCR primer pairs and template standards for PRPF31   OriGene Protein Over-expression Lysate for PRPF31  
     OriGene MassSpec something-or-other for PRPF31   OriGene clones in human, mouse for PRPF31  
     OriGene qSTAR qPCR primer pairs in human, mouse for PRPF31   OriGene Purified Protein for PRPF31  
     OriGene ORF clones in mouse, rat for PRPF31   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for PRPF31   OriGene Custom Protein Services for PRPF31  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PRPF31
     QIAGEN SeqTarget long-range PCR primers for resequencing PRPF31
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRPF31
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PRPF31
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PRPF31
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PRPF31
     GenScript Custom Purified and Recombinant Proteins Services for PRPF31 GenScript cDNA clones with any tag delivered in your preferred vector for PRPF31
     GenScript Custom Assay Services for PRPF31 GenScript Custom Superior Antibodies Services for PRPF31
     GenScript Custom overexpressing Cell Line Services for PRPF31 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in PRPF31 promoter
     Search Chromatin IP Primers for PRPF31
     RT2 qPCR Primer Assay in human, mouse, rat PRPF31
     GNC Network for PRPF31
     SABiosciences Custom PCR Arrays for PRPF31
     Search Tocris compounds for PRPF31 (PRP31)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     cDNA Clones for PRPF31
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     PRPF31 antibodies
     PRPF31 proteins
     PRPF31 lysates
     Antibodies for PRPF31
     See all of Abcam's Antibodies, Kits and Proteins for PRPF31
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for PRPF31
     Antibodies for PRPF31
     ELISAs for PRPF31
     CLIAs for PRPF31
     Search LifeMap BioReagents cell lines for PRPF31
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRPF31
     SwitchGear 3'UTR luciferase reporter plasmids for PRPF31
     SwitchGear Promoter luciferase reporter plasmids for PRPF31
     ThermoFisher Antibodies for PRPF31
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PRPF31
     inGenious Targeting Laboratory - Custom generated mouse model solutions for PRPF31
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PRPF31
    Customized:
     lentivirus for stable overexpression of PRPF31
     lentivirus expression plasmids for stable overexpression of PRPF31
     adenovirus for overexpression of PRPF31
     LSBio Antibodies in human, mouse, rat for PRPF31
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      PRPF31 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4