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EXOSC9 Gene

protein-coding   GIFtS: 60
GCID: GC04P122722

Exosome Component 9

(Previous names: polymyositis/scleroderma autoantigen 1, 75kDa)
(Previous symbol: PMSCL1)
Microbiology & Infectious Diseases Congress
  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)
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Aliases
Exosome Component 91 2 3     Exosome Complex Component RRP452
PMSCL11 2 3 5     Exosome Complex Exonuclease RRP452
Polymyositis/Scleroderma Autoantigen 1, 75kDa1 2     p52
Autoantigen PM/Scl 12 3     p62
PM/Scl-752 3     P75 Polymyositis-Scleroderma Overlap Syndrome Associated Autoantigen2
P75 Polymyositis-Scleroderma Overlap Syndrome-Associated Autoantigen2 3     PMSCL Autoantigen, 75kD2
Polymyositis/Scleroderma Autoantigen 1 (75kD)1     Polymyositis/Scleroderma Autoantigen 13
RRP452     Polymyositis/Scleroderma Autoantigen 75 KDa3
Rrp45p2     EC 3.1.138

External Ids:    HGNC: 91371   Entrez Gene: 53932   Ensembl: ENSG000001237377   OMIM: 6061805   UniProtKB: Q062653   

Export aliases for EXOSC9 gene to outside databases

Previous GC identifers: GC04P123182 GC04P123080 GC04P122941 GC04P118449


(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 EXOSC9 Gene:
This gene encodes a component of the human exosome, a exoribonuclease complex which processes and degrades RNA in
the nucleus and cytoplasm. This component may play a role in mRNA degradation and the polymyositis/scleroderma
autoantigen complex. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Aug 2011)

GeneCards Summary for EXOSC9 Gene:
EXOSC9 (exosome component 9) is a protein-coding gene. Diseases associated with EXOSC9 include scleroderma, and polymyositis. GO annotations related to this gene include RNA binding and AU-rich element binding. An important paralog of this gene is EXOSC8.

UniProtKB/Swiss-Prot: EXOS9_HUMAN, Q06265
Function: Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and
participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome
complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination
of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and
promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding
their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig
variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA
substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically
degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and
in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of
histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal
role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association
with catalytic subunits and accessory proteins or complexes. EXOSC9 binds to ARE-containing RNAs

Gene Wiki entry for EXOSC9 (Exosome component 9) 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_000004.12  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the EXOSC9 gene promoter:
         STAT5B   STAT1   STAT4   HTF   STAT1beta   STAT5A   STAT1alpha   Egr-2   STAT2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEXOSC9 promoter sequence
   Search Chromatin IP Primers for EXOSC9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EXOSC9


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

Entrez Gene cytogenetic band: 4q27   Ensembl cytogenetic band:  4q27   HGNC cytogenetic band: 4q27

EXOSC9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EXOSC9 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P122722:  view genomic region     (about GC identifiers)

Start:
122,722,472 bp from pter      End:
122,738,176 bp from pter
Size:
15,705 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: EXOS9_HUMAN, Q06265 (See protein sequence)
Recommended Name: Exosome complex component RRP45  
Size: 439 amino acids; 48949 Da
Subunit: Component of the RNA exosome complex. Specifically part of the catalytically inactive RNA exosome core
(Exo-9) complex which is believed to associate with catalytic subunits EXOSC10, and DIS3 or DIS3L in cytoplasmic-
and nuclear-specific RNA exosome complex forms. Exo-9 is formed by a hexameric ring of RNase PH domain-containing
subunits specifically containing the heterodimers EXOSC4-EXOSC9, EXOSC5-EXOSC8 and EXOSC6-EXOSC7, and peripheral
S1 domain-containing components EXOSC1, EXOSC2 and EXOSC3 located on the top of the ring structure
Caution: The six exosome core subunits containing a RNase PH-domain are not phosphorolytically active
1 PDB 3D structure from and Proteopedia for EXOSC9:
2NN6 (3D)    
Secondary accessions: Q12883 Q4W5P5 Q86Y41 Q86Y48
Alternative splicing: 4 isoforms:  Q06265-1   Q06265-2   Q06265-3   Q06265-4   

Explore the universe of human proteins at neXtProt for EXOSC9: NX_Q06265

Explore proteomics data for EXOSC9 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys52, Lys67, Lys101, Lys244, Lys281
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for EXOSC9 (Q06265)
     PVLWTPGTAQIG  EERDPVPLSIHHMPICVSFAFFQQGTYLLVDP 


    See EXOSC9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001029366.1  NP_005024.2  

    ENSEMBL proteins: 
     ENSP00000243498   ENSP00000368984   ENSP00000423476   ENSP00000421845   ENSP00000422205  
     ENSP00000425782   ENSP00000424504  
    Reactome Protein details: Q06265

    EXOSC9 Human Recombinant Protein Products:

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    Novus Biologicals EXOSC9 Protein
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    Cloud-Clone Corp. Proteins for EXOSC9

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    Cloud-Clone Corp. CLIAs for EXOSC9


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR015847 ExoRNase_PH_dom2
     IPR001247 ExoRNase_PH_dom1
     IPR020568 Ribosomal_S5_D2-typ_fold

    Graphical View of Domain Structure for InterPro Entry Q06265

    ProtoNet protein and cluster: Q06265

    UniProtKB/Swiss-Prot: EXOS9_HUMAN, Q06265
    Similarity: Belongs to the RNase PH family


    EXOSC9 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: EXOS9_HUMAN, Q06265
    Function: Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and
    participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome
    complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination
    of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and
    promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding
    their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig
    variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA
    substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically
    degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and
    in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of
    histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal
    role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association
    with catalytic subunits and accessory proteins or complexes. EXOSC9 binds to ARE-containing RNAs

         Enzyme Number (IUBMB): EC 3.1.132

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:00001753'-5'-exoribonuclease activity NAS11879549
    GO:0003723RNA binding NAS11879549
    GO:0004532NOT exoribonuclease activity IDA17174896
    GO:0005515protein binding IPI12788944
    GO:0017091AU-rich element binding IDA11782436
         
    EXOSC9 for ontologies           About GeneDecksing


    Animal Models:
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    1 qRT-PCR Assays for microRNA that regulate EXOSC9:
    hsa-miR-633
    SwitchGear 3'UTR luciferase reporter plasmidEXOSC9 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for EXOSC9
    Predesigned siRNA for gene silencing in human, mouse, rat EXOSC9

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    GenScript: all cDNA clones in your preferred vector (see all 2): EXOSC9 (NM_005033)
    Sino Biological Human cDNA Clone for EXOSC9
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EXOSC9
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EXOSC9

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for EXOSC9 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EXOSC9


    (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
    EXOS9_HUMAN, Q06265: Cytoplasm. Nucleus, nucleolus
    EXOS9_HUMAN, Q06265: Isoform 1: Nucleus, nucleolus
    EXOS9_HUMAN, Q06265: Isoform 2: Nucleus, nucleolus
    EXOS9_HUMAN, Q06265: Isoform 3: Nucleus. Note=Excluded from the nucleolus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    plasma membrane2
    cytoskeleton1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000176nuclear exosome (RNase complex) NAS11879549
    GO:0000178exosome (RNase complex) IDA--
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA17545563

    EXOSC9 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 EXOSC9 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Deadenylation-dependent mRNA decay
    Deadenylation-dependent mRNA decay0.48
    mRNA Decay by 3 to 5' Exoribonuclease0.00
    RNA degradation0.48
    2CDK-mediated phosphorylation and removal of Cdc6
    Regulation of mRNA Stability by Proteins that Bind AU-rich Elements0.62
    Destabilization of mRNA by KSRP0.00
    Destabilization of mRNA by Butyrate Response Factor 1 (BRF1)0.00
    Destabilization of mRNA by Tristetraprolin (TTP)0.00
    3PERK regulated gene expression
    PERK regulated gene expression0.90
    Activation of Genes by ATF40.90
    4Unfolded Protein Response
    Unfolded Protein Response0.61
    5Gene Expression
    Gene Expression0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for EXOSC9
        ATP/ITP metabolism


    5 Reactome Pathways for EXOSC9
        Tristetraprolin (TTP) destabilizes mRNA
    Butyrate Response Factor 1 (BRF1) destabilizes mRNA
    KSRP destabilizes mRNA
    mRNA decay by 3' to 5' exoribonuclease
    ATF4 activates genes


    1 Kegg Pathway  (Kegg details for EXOSC9):
        RNA degradation


    EXOSC9 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EXOSC9
    Interactions:

        Search GeneGlobe Interaction Network for EXOSC9

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

    Selected Interacting proteins for EXOSC9 (Q062651, 2, 3 ENSP000003689844) via UniProtKB, MINT, STRING, and/or I2D (see all 128)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000215425Q138382, 3MINT-62642 MINT-62740 MINT-62816 I2D: score=4 
    ENSG00000225859Q138382, 3MINT-62642 MINT-62740 MINT-62816 I2D: score=4 
    ENSG00000229496Q138382, 3MINT-62642 MINT-62740 MINT-62816 I2D: score=4 
    ENSG00000230624Q138382, 3MINT-62642 MINT-62740 MINT-62816 I2D: score=4 
    ENSG00000235439Q138382, 3MINT-62642 MINT-62740 MINT-62816 I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000288nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay TAS--
    GO:0000956nuclear-transcribed mRNA catabolic process IMP17545563
    GO:0006364rRNA processing NAS11879549
    GO:0006955immune response NAS11879549
    GO:0010467gene expression TAS--

    EXOSC9 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 EXOSC9 (EXOS9)



    (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 EXOSC9 gene (2 alternative transcripts): 
    NM_001034194.1  NM_005033.2  

    Unigene Cluster for EXOSC9:

    Exosome component 9
    Hs.91728  [show with all ESTs]
    Unigene Representative Sequence: NM_001034194
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000243498 ENST00000509980 ENST00000379663 ENST00000513654(uc003idz.3 uc003iea.3)
    ENST00000511454 ENST00000509800 ENST00000512454(uc003ieb.3) ENST00000508212
    ENST00000506201 ENST00000511132 ENST00000503139(uc010inp.1) ENST00000503236

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate EXOSC9:
    hsa-miR-633
    SwitchGear 3'UTR luciferase reporter plasmidEXOSC9 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): EXOSC9 (NM_005033)
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EXOSC9
      QuantiTect SYBR Green Assays in human, mouse, rat EXOSC9
      QuantiFast Probe-based Assays in human, mouse, rat EXOSC9

    Additional mRNA sequence: 

    AJ505989.1 AJ517294.1 AK301967.1 AK307548.1 AK310894.1 BC012371.1 BC142978.1 M58460.1 
    U09215.1 

    20 DOTS entries:

    DT.101957287  DT.100776190  DT.91774285  DT.95341720  DT.101981094  DT.100713798  DT.91942856  DT.95341715 
    DT.455397  DT.91774289  DT.100036712  DT.100700269  DT.100713796  DT.95341757  DT.100022996  DT.407371 
    DT.91774290  DT.121257011  DT.91965981  DT.91996848 

    Selected AceView cDNA sequences (see all 196):

    BE253559 BU620987 AI521790 NM_005033 AA937087 BF974787 AW615244 BI916515 
    BE046954 AJ505989 CR617928 CR595328 AJ517294 BX340304 BM991858 BU684500 
    BF057735 CR621174 BQ338651 CR596830 CA309400 BU633648 BX097648 AI309188 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for EXOSC9 (see all 8)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^ 12 ^ 13a · 13b ^ 14
    SP1:                                      -                 -     -                                   -                 -                           
    SP2:                                      -                 -     -                                   -                 -     -                     
    SP3:                                      -                 -     -           -                       -                                             
    SP4:                                      -                 -           -     -                                                                     
    SP5:                                      -     -           -     -                                                                                 


    ECgene alternative splicing isoforms for EXOSC9

    (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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    EXOSC9 expression in normal human tissues (normalized intensities)      EXOSC9 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACAAACATC
    EXOSC9 Expression
    About this image


    EXOSC9 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Eye (Sensory Organs)
             Retina
     
     Testis (Reproductive System)
    EXOSC9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EXOSC9 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.91728
        Custom PCR Arrays for EXOSC9
    Primer
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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 EXOSC9 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Exosc91 , 5 exosome component 91, 5 88.07(n)1
    92.43(a)1
      3 (17.60 cM)5
    509111  NM_019393.21  NP_062266.11 
     365526065 
    chicken
    (Gallus gallus)
    Aves EXOSC91 exosome component 9 75.43(n)
    80.57(a)
      619530  NM_001034828.1  NP_001030000.1 
    lizard
    (Anolis carolinensis)
    Reptilia EXOSC96
    exosome component 9
    77(a)
    1 ↔ 1
    5(139047684-139065504)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.164702 Xenopus laevis transcribed sequence with moderate similarity more 77.27(n)    BJ070268.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.181502 Transcribed sequence with moderate similarity to protein more 74.09(n)    57062235 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rrp456
    Rrp45
    26(a)
    1 ↔ 1
    X(16683486-16685266)
    worm
    (Caenorhabditis elegans)
    Secernentea exos-91 exos-9 48.51(n)
    36.3(a)
      176012  NM_171186.4  NP_741217.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RRP45(YDR280W)4
    RRP451
    Exosome non-catalytic core component; involved in 3'-5' more4
    RRP451
    48.86(n)1
    36.46(a)1
      4(1020747-1021664)4
    8518741, 4  NP_010566.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CER71 CER7 51.19(n)
    44.53(a)
      825221  NM_115914.3  NP_191609.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g05507001 Os02g0550700 52.89(n)
    44.88(a)
      4329627  NM_001053631.1  NP_001047096.1 


    ENSEMBL Gene Tree for EXOSC9 (if available)
    TreeFam Gene Tree for EXOSC9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EXOSC9 gene
    EXOSC82  EXOSC72  
    2 SIMAP similar genes for EXOSC9 using alignment to 7 protein entries:     EXOS9_HUMAN (see all proteins):
    EXOSC8    DKFZp564C0482

    EXOSC9 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), 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 EXOSC9 (see all 456)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1899934271,2
    --122506045(+) AAGGAA/GGAAAC 2 -- us2k10--------
    rs1435193961,2
    --122506127(+) AATTGC/TTATTT 2 -- us2k10--------
    rs1825363361,2
    --122506210(+) TTATCC/TGAAGC 2 -- us2k10--------
    rs68381531,2
    C,F,A,H--122506416(+) AACTTA/GAGTGG 2 -- us2k1 tfbs318Minor allele frequency- G:0.23NS EA NA WA 2338
    rs729159491,2
    C,F--122506438(+) TAATCC/TCCTTG 2 -- us2k12Minor allele frequency- T:0.04WA 120
    rs1471763251,2
    --122506478(+) ACTTTC/TCTCCT 2 -- us2k10--------
    rs1119750891,2
    C,F--122506743(+) TTTTGC/TCTTTT 2 -- us2k14Minor allele frequency- T:0.13NA CSA WA 242
    rs560779501,2
    C,F--122506829(+) GTAGGC/TCCTCT 2 -- us2k13Minor allele frequency- T:0.24WA NA EA 358
    rs1402789821,2
    C--122506926(+) CCAAAC/GAAGCC 2 -- us2k10--------
    rs1871653371,2
    --122507015(+) AAATAA/GTGCTT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for EXOSC9 (122722472 - 122738176 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for EXOSC9: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EXOSC9
    DNA2.0 Custom Variant and Variant Library Synthesis for EXOSC9

    (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: 606180    OMIM disorders: --

    4 diseases for EXOSC9:    About MalaCards
    scleroderma    polymyositis    systemic scleroderma    malaria


    EXOSC9 for disorders           About GeneDecksing


    Export disorders for EXOSC9 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 EXOSC9 gene, integrated from 10 sources (see all 47):
    (articles sorted by number of sources associating them with EXOSC9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Dis3-like 1: a novel exoribonuclease associated with the human exosome. (PubMed id 20531389)1, 2 Staals R.H.... Pruijn G.J. (EMBO J. 2010)
    2. Human cell growth requires a functional cytoplasmic exosome, which is involved in various mRNA decay pathways. (PubMed id 17545563)1, 2 van Dijk E.L.... Pruijn G.J. (RNA 2007)
    3. Reconstitution, activities, and structure of the eukaryotic RNA exosome. (PubMed id 17174896)1, 2 Liu Q.... Lima C.D. (Cell 2006)
    4. Adenylation and exosome-mediated degradation of cotranscriptionally cleaved pre-messenger RNA in human cells. (PubMed id 16455498)1, 2 West S.... Proudfoot N.J. (Mol. Cell 2006)
    5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    6. The association of the human PM/Scl-75 autoantigen with the exosome is dependent on a newly identified N terminus. (PubMed id 12788944)1, 2 Raijmakers R.... Pruijn G.J. (J. Biol. Chem. 2003)
    7. The mammalian exosome mediates the efficient degradation of mRNAs that contain AU-rich elements. (PubMed id 11782436)1, 2 Mukherjee D.... Wilusz J. (EMBO J. 2002)
    8. AU binding proteins recruit the exosome to degrade ARE-containing mRNAs. (PubMed id 11719186)1, 2 Chen C.-Y.... Karin M. (Cell 2001)
    9. The yeast exosome and human PM-Scl are related complexes of 3'-->5' exonucleases. (PubMed id 10465791)1, 2 Allmang C....Mitchell P. (Genes Dev. 1999)
    10. Molecular characterization of an autoantigen of PM-Scl in the polymyositis/scleroderma overlap syndrome: a unique and complete human cDNA encoding an apparent 75-kD acidic protein of the nucleolar complex. (PubMed id 2007859)1, 2 Alderuccio F.... Tan E.M. (J. Exp. Med. 1991)

    (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: 5393 HGNC: 9137 AceView: EXOSC9 Ensembl:ENSG00000123737 euGenes: HUgn5393
    ECgene: EXOSC9 Kegg: 5393 H-InvDB: EXOSC9

    (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 EXOSC9 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 EXOSC9 gene:
    Search GeneIP for patents involving EXOSC9

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



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