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PRPF6 Gene

protein-coding   GIFtS: 61
GCID: GC20P062612

Pre-MRNA Processing Factor 6

(Previous names: chromosome 20 open reading frame 14, PRP6 pre-mRNA processing...)
(Previous symbol: C20orf14)
Microbiology & Infectious Diseases Congress
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(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 61 2     Prp62
C20orf141 2 3 5     RP602
Androgen Receptor N-Terminal Domain-Transactivating Protein 12 3     SNRNP1022
ANT-12 3     U5-102K2
PRP6 Homolog2 3     Androgen Receptor N-Terminal Domain Transactivating Protein-12
U5 SnRNP-Associated 102 KDa Protein2 3     hPrp62
U5-102 KDa Protein2 3     P102 U5 Small Nuclear Ribonucleoprotein Particle-Binding Protein2
ANT12 5     Pre-MRNA-Processing Factor 62
TOM2 5     PRP6 Pre-MRNA Processing Factor 6 Homolog2
Chromosome 20 Open Reading Frame 141     Putative Mitochondrial Outer Membrane Protein Import Receptor2
PRP6 Pre-MRNA Processing Factor 6 Homolog (S. Cerevisiae)1     PRP65
PRP6 Pre-MRNA Processing Factor 6 Homolog (Yeast)1     

External Ids:    HGNC: 158601   Entrez Gene: 241482   Ensembl: ENSG000001011617   OMIM: 6139795   UniProtKB: O949063   

Export aliases for PRPF6 gene to outside databases

Previous GC identifers: GC20P062083 GC20P059347


(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 PRPF6 Gene:
The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor
between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also can bind androgen receptor,
providing a link between transcriptional activation and splicing. (provided by RefSeq, Jul 2008)

GeneCards Summary for PRPF6 Gene:
PRPF6 (pre-mRNA processing factor 6) is a protein-coding gene. Diseases associated with PRPF6 include retinitis pigmentosa 60, and prpf6-related retinitis pigmentosa. GO annotations related to this gene include RNA binding and androgen receptor binding.

UniProtKB/Swiss-Prot: PRP6_HUMAN, O94906
Function: Involved in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex, one of the building blocks
of the spliceosome. Enhances dihydrotestosterone-induced transactivation activity of AR, as well as
dexamethasone-induced transactivation activity of NR3C1, but does not affect estrogen-induced transactivation

Gene Wiki entry for PRPF6 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:
NC_000020.11  NT_011362.11  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PRPF6 gene promoter:
         STAT1   STAT1beta   Lmo2   LUN-1   HNF-4alpha2   Nkx2-5   STAT1alpha   HNF-4alpha1   HFH-1   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPRPF6 promoter sequence
   Search Chromatin IP Primers for PRPF6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PRPF6


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

Entrez Gene cytogenetic band: 20q13.33   Ensembl cytogenetic band:  20q13.33   HGNC cytogenetic band: 20q13.33

PRPF6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRPF6 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P062612:  view genomic region     (about GC identifiers)

Start:
62,612,431 bp from pter      End:
62,664,453 bp from pter
Size:
52,023 bases      Orientation:
plus strand

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PRP6_HUMAN, O94906 (See protein sequence)
Recommended Name: Pre-mRNA-processing factor 6  
Size: 941 amino acids; 106925 Da
Subunit: Associates with the U5 snRNP particle. 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, LSm proteins LSm2-8 and Sm proteins. Interacts with ARAF1. Identified in the
spliceosome C complex. Interacts with AR and NR3C1, but not ESR1, independently of the presence of hormones
Secondary accessions: B2RAR5 B3KMC6 O95109 Q5VXS5 Q9H3Z1 Q9H4T9 Q9H4U8 Q9NTE6
Alternative splicing: 2 isoforms:  O94906-1   O94906-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PRPF6: NX_O94906

Explore proteomics data for PRPF6 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys178, Lys618, Lys775
  • Modification sites at PhosphoSitePlus

  • See PRPF6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_036601.2  
    ENSEMBL proteins: 
     ENSP00000266079   ENSP00000446216  
    Reactome Protein details: O94906

    PRPF6 Human Recombinant Protein Products:

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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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    Selected InterPro protein domains (see all 6):
     IPR011990 TPR-like_helical
     IPR003107 HAT
     IPR027108 Prp6/Prp1
     IPR010491 PRP1_N
     IPR013026 TPR-contain_dom

    Graphical View of Domain Structure for InterPro Entry O94906

    ProtoNet protein and cluster: O94906

    2 Blocks protein domains:
    IPB003107 RNA-processing protein
    IPB010491 PRP1 splicing factor


    UniProtKB/Swiss-Prot: PRP6_HUMAN, O94906
    Similarity: Contains 9 HAT repeats


    PRPF6 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PRP6_HUMAN, O94906
    Function: Involved in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex, one of the building blocks
    of the spliceosome. Enhances dihydrotestosterone-induced transactivation activity of AR, as well as
    dexamethasone-induced transactivation activity of NR3C1, but does not affect estrogen-induced transactivation

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003713transcription coactivator activity IGI16414017
    GO:0003723RNA binding IDA--
    GO:0005515protein binding IPI12620389
    GO:0043021ribonucleoprotein complex binding IDA10788320
    GO:0044822poly(A) RNA binding IDA--
         
    PRPF6 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for PRPF6:
     Abundance of large cells with   Cell cycle / mitosis defect  Decreased viability of wild-ty  Increased gamma-H2AX phosphory 

         1 MGI phenotypic allele for Prpf6 (no phenotypes)

    PRPF6 for phenotypes           About GeneDecksing

    Animal Models:
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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
    PRP6_HUMAN, O94906: Nucleus, nucleoplasm. Nucleus speckle. Note=Localized in splicing speckles
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005681spliceosomal complex NAS10788320
    GO:0005682U5 snRNP IDA10788320

    PRPF6 for ontologies           About GeneDecksing


    (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 PRPF6 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    mRNA Splicing - Major Pathway0.78
    mRNA processing0.44
    Processing of Capped Intron-Containing Pre-mRNA0.78
    mRNA Splicing - Minor Pathway0.38
    mRNA Splicing0.78
    2Gene Expression
    Gene Expression0.40
    3Spliceosome
    Spliceosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for PRPF6
        mRNA processing

    2 Reactome Pathways for PRPF6
        mRNA Splicing - Major Pathway
    mRNA Splicing - Minor Pathway


    1 Kegg Pathway  (Kegg details for PRPF6):
        Spliceosome


    PRPF6 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PRPF6
    Interactions:

        GeneGlobe Interaction Network for PRPF6

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

    Selected Interacting proteins for PRPF6 (O949061, 2, 3 ENSP000002660794) via UniProtKB, MINT, STRING, and/or I2D (see all 964)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARAFP103981, 2, 3, ENSP000003662444EBI-536755,EBI-365961 MINT-19319 I2D: score=5 STRING: ENSP00000366244
    IKQ131231, 2, ENSP000003963014EBI-536755,EBI-713456 MINT-7945693 MINT-8331778 MINT-8336144 STRING: ENSP00000396301
    SNRNP200O756432, 3, ENSP000003171234MINT-7945693 MINT-7947479 I2D: score=6 STRING: ENSP00000317123
    PRPF8Q6P2Q92, 3, ENSP000003043504MINT-7945693 MINT-7947479 I2D: score=5 STRING: ENSP00000304350
    SNRPD3P623182, 3, ENSP000002158294MINT-7945693 MINT-7947479 I2D: score=4 STRING: ENSP00000215829
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000244spliceosomal tri-snRNP complex assembly IMP15257298
    GO:0000245spliceosomal complex assembly NAS10788320
    GO:0000375RNA splicing, via transesterification reactions NAS10788320
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0006396RNA processing ----

    PRPF6 for ontologies           About GeneDecksing



    (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 PRPF6 (PRP6)

    3 Novoseek inferred chemical compound relationships for PRPF6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iron 33.7 3 1532495 (1), 8727598 (1)
    testosterone 29.3 3 16414017 (2)
    estrogen 13.3 2 12039962 (1), 12943705 (1)



    PRPF6 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PRPF6 gene: 
    NM_012469.3  

    Unigene Cluster for PRPF6:

    PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae)
    Hs.31334  [show with all ESTs]
    Unigene Representative Sequence: NM_012469
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000266079(uc002yho.3 uc002yhp.3) ENST00000535781
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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      QuantiTect SYBR Green Assays in human, mouse, rat PRPF6
      QuantiFast Probe-based Assays in human, mouse, rat PRPF6

    Additional mRNA sequence: 

    AB019219.1 AF026031.1 AF221842.1 AK001554.1 AK225993.1 AK314310.1 AL137320.1 BC001666.2 

    22 DOTS entries:

    DT.101970767  DT.454617  DT.100818338  DT.101969470  DT.120820416  DT.40244876  DT.100818329  DT.91764328 
    DT.100667275  DT.100818332  DT.100818337  DT.120820396  DT.120820404  DT.75103365  DT.91678903  DT.92011621 
    DT.95069217  DT.95115148  DT.95271508  DT.95271531  DT.95359216  DT.92068623 

    Selected AceView cDNA sequences (see all 544):

    BM309859 BF531001 AA121962 AI692706 BU782020 BP365493 CO249895 BQ478126 
    BU164106 BP359613 CO245603 AU130172 BU149076 BQ639233 BQ478349 BQ949751 
    BM465659 BP355368 BM565609 BU501741 BM925077 BM923798 AK001554 AW327343 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, 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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    PRPF6 expression in normal human tissues (normalized intensities)      PRPF6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGAAGGGCT
    PRPF6 Expression
    About this image


    PRPF6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    PRPF6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PRPF6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.31334

    UniProtKB/Swiss-Prot: PRP6_HUMAN, O94906
    Tissue specificity: Widely expressed

        Custom PCR Arrays for PRPF6
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    QuantiFast Probe-based Assays in human, mouse, rat PRPF6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRPF6

    (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 PRPF6 gene from Selected species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Prpf61 , 5 PRP6 pre-mRNA splicing factor 6 homolog (yeast)1, 5 88.63(n)1
    98.3(a)1
      2 (103.67 cM)5
    688791  NM_133701.21  NP_598462.11 
     1815918685 
    chicken
    (Gallus gallus)
    Aves PRPF61 PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) 82.39(n)
    97.24(a)
      419254  XM_417426.4  XP_417426.2 
    lizard
    (Anolis carolinensis)
    Reptilia PRPF66
    pre-mRNA processing factor 6
    92(a)
    1 ↔ 1
    4(155542418-155581922)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.35102 Xenopus laevis transcribed sequence with strong similarity more 81.91(n)    BQ726445.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa05f072 Danio rerio cDNA clone MGC65913 IMAGE6789223, complete more 79.28(n)    BC056710.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG68411 CG6841 66.41(n)
    73.71(a)
      40064  NM_140816.3  NP_649073.1 
    worm
    (Caenorhabditis elegans)
    Secernentea prp-61 prp-6 55.76(n)
    57.53(a)
      180180  NM_075124.5  NP_507525.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PRP6(YBR055C)4 Splicing factor, component of the U4/U6-U5 snRNP complex   --   2(347301-344602) 852344  NP_009611.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons EMB27701 EMB2770 57.99(n)
    56.59(a)
      827925  NM_116581.1  NP_192252.1 
    rice
    (Oryza sativa)
    Liliopsida Os.214572 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 75.09(n)    NM_197187.1 


    ENSEMBL Gene Tree for PRPF6 (if available)
    TreeFam Gene Tree for PRPF6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (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 PRPF6 (see all 1300)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0657684
    Retinitis pigmentosa 60 (RP60)4--see VAR_0657682 R W mis40--------
    rs1466778081,2
    --62612996(+) GACAC-/TCCCCC 1 -- int10--------
    rs1471765471,2
    C--62613001(+) TCCCCC/GCCCCC 1 -- int10--------
    rs1814056101,2
    --62613005(+) CCCCCC/TCGCCC 1 -- int10--------
    rs1858410301,2
    --62613008(+) CCCCGC/GCCGCC 1 -- int10--------
    rs1486332371,2
    --62613088(+) GATAAC/GTGAGC 1 -- int10--------
    rs8173541,2
    C,F,A,H--62613109(+) ATCCTA/GTTTGG 1 -- int122Minor allele frequency- G:0.19MN NS EA NA WA CSA 2532
    rs1905999221,2
    --62613210(+) GTTTGC/TTATTA 1 -- int10--------
    rs1412718761,2
    --62613328(+) GTGACA/GATAGA 1 -- int10--------
    rs1507641411,2
    --62613350(+) CATTCG/TGCGTG 1 -- int10--------

    HapMap Linkage Disequilibrium report for PRPF6 (62612431 - 62664453 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PRPF6 (see all 29):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1033490CNV Deletion17803354
    nsv820696CNV Deletion20802225
    esv989902CNV Deletion20482838
    esv2378872CNV Deletion18987734
    esv2677716CNV Deletion23128226
    nsv509785CNV Insertion20534489
    nsv509784CNV Insertion20534489
    dgv4653n71CNV Loss21882294
    dgv4659n71CNV Loss21882294
    nsv913270CNV Loss21882294

    Human Gene Mutation Database (HGMD): PRPF6
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PRPF6
    DNA2.0 Custom Variant and Variant Library Synthesis for PRPF6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613979   
    OMIM disorders: 613983  
    UniProtKB/Swiss-Prot: PRP6_HUMAN, O94906
  • Retinitis pigmentosa 60 (RP60) [MIM:613983]: 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 may be caused by
    mutations affecting the gene represented in this entry. Cells from RP60 patients show intron retention for
    pre-mRNA bearing specific splicing signals

  • 18 diseases for PRPF6:    About MalaCards
    retinitis pigmentosa 60    prpf6-related retinitis pigmentosa    leber congenital amaurosis    rhyns syndrome
    pigmentary retinopathy    retinitis pigmentosa    retinitis    blindness
    tonsillitis    hepatitis b    hepatitis    multiple myeloma
    myeloma    hiv-1    thyroiditis    cerebritis
    malaria    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for PRPF6:
    Retinitis pigmentosa

    PRPF6 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: PRPF6 (1 document)

    Export disorders for PRPF6 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 PRPF6 gene, integrated from 10 sources (see all 70):
    (articles sorted by number of sources associating them with PRPF6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human homologue of the yeast splicing factor Prp6p contains multiple TPR elements and is stably associated with the U5 snRNP via protein-protein interactions. (PubMed id 10788320)1, 2, 3 Makarov E.M.... Luehrmann R. (J. Mol. Biol. 2000)
    2. A novel mammalian nuclear protein similar to Schizosaccharomyces pombe Prp1p/Zer1p and Saccharomyces cerevisiae Prp6p pre-mRNA splicing factors. (PubMed id 10561546)1, 2, 3 Nishikimi A.... Yamada M. (Biochim. Biophys. Acta 1999)
    3. Activation function-1 domain of androgen receptor contributes to the interaction between subnuclear splicing factor compartment and nuclear receptor compartment. Identification of the p102 U5 small nuclear ribonucleoprotein particle-binding protein as a coactivator for the receptor. (PubMed id 12039962)1, 2, 9 Zhao Y.... Nawata H. (J. Biol. Chem. 2002)
    4. Isoform-specific localization of A-RAF in mitochondria. (PubMed id 10848612)1, 2, 9 Yuryev A.... Wennogle L.P. (Mol. Cell. Biol. 2000)
    5. A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa. (PubMed id 21549338)1, 2 Tanackovic G....Rivolta C. (Am. J. Hum. Genet. 2011)
    6. 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)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis. (PubMed id 11991638)1, 2 Jurica M.S.... Moore M.J. (RNA 2002)
    10. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 24148 HGNC: 15860 AceView: C20orf14 Ensembl:ENSG00000101161 euGenes: HUgn24148
    ECgene: PRPF6 Kegg: 24148 H-InvDB: PRPF6

    (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 PRPF6 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 PRPF6 gene:
    Search GeneIP for patents involving PRPF6

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



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