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PRPF31 Gene

protein-coding   GIFtS: 67
GCID: GC19P054618

Pre-MRNA Processing Factor 31

(Previous names: PRP31 pre-mRNA processing factor 31 homolog (yeast), PRP31...)
(Previous symbol: RP11)
  See PRPF31-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 prpf31-related retinitis pigmentosa, and retinitis pigmentosa 11. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011109.17  NT_187693.1  NC_018930.2  
Regulatory elements:
   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 Chromatin IP Primers for PRPF31

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

Selected alternative locations (see all 8):
Chr19+,NW_003571054 89,903-106,263      Chr19+,NW_003571058 89,903-106,263      Chr19+,NW_003571055 89,903-106,263     
Chr19+,NW_003571059 89,903-106,263      Chr19+,NW_003571056 89,903-106,263      Chr19+,NW_003571061 89,903-106,263     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: 

  • Ubiquitination2 at Lys417, Lys430, Lys478
  • Modification sites at PhosphoSitePlus

  • See PRPF31 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

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    antibodies-online proteins for PRPF31 (8 products) 

     
    antibodies-online peptides for PRPF31

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with PRPF31           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding ----
    GO:0005515protein binding IPI--
    GO:0043021ribonucleoprotein complex binding IDA11867543
    GO:0044822poly(A) RNA binding IDA--
    GO:0070990snRNP binding IPI17412961
         
    Find genes that share ontologies with PRPF31           About GenesLikeMe


    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 

    Find genes that share phenotypes with PRPF31           About GenesLikeMe

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PRPF31
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    hsa-mir-484 (MIRT041831), hsa-mir-193b-3p (MIRT041299)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PRP31_HUMAN, Q8WWY3: Nucleus speckle. Nucleus, Cajal body. Note=Predominantly found in speckles and in Cajal
    bodies
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): Selected cellular component terms (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

    Find genes that share ontologies with PRPF31           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for PRPF31 About    
    See pathways by source

    SuperPathContained pathways About
    1Spliceosome
    Spliceosome


    Find genes that share SuperPaths with PRPF31           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1 Kegg Pathway  (Kegg details for PRPF31):
        Spliceosome

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PRPF31
    Interactions:

        GeneGlobe Interaction Network for PRPF31

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

    Selected Interacting proteins for PRPF31 (Q8WWY31, 2, 3 ENSP000003241224) via UniProtKB, MINT, STRING, and/or I2D (see all 343)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRPF6O949061, 2, 3, ENSP000002660794EBI-1567797,EBI-536755 MINT-8331734 MINT-8336133 I2D: score=5 STRING: ENSP00000266079
    ENSG00000224979Q9Y3333, ENSP000004140064I2D: score=4 STRING: ENSP00000414006
    ENSG00000225998Q9Y3333, ENSP000004062804I2D: score=4 STRING: ENSP00000406280
    ENSG00000231502Q9Y3333, ENSP000004033454I2D: score=4 STRING: ENSP00000403345
    ENSG00000236826Q9Y3333, ENSP000004146344I2D: score=4 STRING: ENSP00000414634
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

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

    Find genes that share ontologies with PRPF31           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
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    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 

    Selected AceView cDNA sequences (see all 503):

    CK821382 BQ053446 BM824559 BM713297 BE222798 BQ917506 BP352773 BF061105 
    BE731413 AI274216 BM469117 BQ668722 BE263041 BM811199 AW295029 BU509161 
    AW615662 AW470369 BQ651173 BF590834 BU149565 BE729156 AA427537 BM314393 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PRPF31 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    PRPF31 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PRPF31 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.515598

    UniProtKB/Swiss-Prot: PRP31_HUMAN, Q8WWY3
    Tissue specificity: Ubiquitously 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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PRPF31 gene from Selected 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
    pre-mRNA processing factor 31
    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
    Prp311
    63(a)3
    65.03(n)1
    63.39(a)1
      71B63
    396551  NM_140499.31  NP_648756.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y110A7A.83
    prp-311
    mRNA splicing protein3
    prp-311
    47(a)3
    50.33(n)1
    47.48(a)1
      I(5127854-5129538)3
    1721461  NM_059126.51  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 emb1220 50.84(n)
    47.95(a)
      842312  NM_104707.3  NP_564754.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g05554001 Os04g0555400 51.45(n)
    49.31(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)
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    Paralogs for PRPF31 gene
    1 SIMAP similar gene for PRPF31 using alignment to 10 protein entries:     PRP31_HUMAN (see all proteins):
    NOP56

    Find genes that share paralogs with PRPF31           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PRPF31 (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

    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 5 diseases for PRPF31:    
    About MalaCards
    prpf31-related retinitis pigmentosa    retinitis pigmentosa 11    retinitis pigmentosa    leber congenital amaurosis
    breast cancer

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

    Find genes that share disorders with PRPF31           About GenesLikeMe

    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)
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    PubMed articles for PRPF31 gene, integrated from 10 sources (see all 89):
    (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. (Mol. Cell 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. (Mol. Vis. 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. (amp 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. (EMBO J. 2002)
    5. CTNNBL1 is a novel nuclear localization sequence-binding protein that recognizes RNA-splicing factors CDC5L and Prp31. (PubMed id 21385873)1, 2 Ganesh K.... Neuberger M. (J. Biol. Chem. 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. (Ophthalmology 2011)
    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. (Arch. Ophthalmol. 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. (Science 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. (RNA 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. (Cell 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 26121 HGNC: 15446 AceView: PRPF31 Ensembl:ENSG00000105618 euGenes: HUgn26121
    ECgene: PRPF31 Kegg: 26121 H-InvDB: PRPF31

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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



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