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

EXOSC9 Gene

protein-coding   GIFtS: 59
GCID: GC04P122722

exosome component 9

(Previous names: polymyositis/scleroderma autoantigen 1, 75kDa )
(Previous symbol: PMSCL1)
 Explore 4 diseases affiliated with
EXOSC9 via our new
 Human Malady Compendium 
Biological research products
for EXOSC9
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Exosome Component 91 2 3     P75 Polymyositis-Scleroderma Overlap Syndrome-Associated Autoantigen2 3
PMSCL11 2 3 5     Exosome Complex Component RRP452
PM/Scl-751 2 3     Exosome Complex Exonuclease RRP452
RRP451 2     P75 Polymyositis-Scleroderma Overlap Syndrome Associated Autoantigen2
Rrp45p1 2     PMSCL Autoantigen, 75kD2
P51     Polymyositis/Scleroderma Autoantigen 13
P61     Polymyositis/Scleroderma Autoantigen 75 KDa3
Polymyositis/Scleroderma Autoantigen 1, 75kDa1 2     EC 3.1.138
Autoantigen PM/Scl 12 3     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for EXOSC9:
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)

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)


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_016354.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for EXOSC9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: 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
Subcellular location: Cytoplasm. Nucleus, nucleolus
Subcellular location: Isoform 1: Nucleus, nucleolus
Subcellular location: Isoform 2: Nucleus, nucleolus
Subcellular location: Isoform 3: Nucleus. Note=Excluded from the nucleolus
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q06265

  • 2 DME Specific Peptides for EXOSC9 (Q06265)
     PVLWTPGTAQIG  EERDPVPLSIHHMPICVSFAFFQQGTYLLVDP 

    EXOSC9 Protein expression data from MOPED and PaxDb:    About this image 
    EXOSC9 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001029366.1  NP_005024.2  

    ENSEMBL proteins: 
     ENSP00000243498   ENSP00000368984   ENSP00000423476   ENSP00000421845   ENSP00000422205  
     ENSP00000425782   ENSP00000424504  
    Reactome Protein details: Q06265
    Human Recombinant Protein Products for EXOSC9: 
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    Novus Biologicals EXOSC9 Protein
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    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for EXOSC9
    Uscn Proteins for EXOSC9

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000176nuclear exosome (RNase complex) NAS11879549
    GO:0000178exosome (RNase complex) IDA--
    GO:0005634nucleus IDA17545563
    GO:0005730nucleolus IEA--
    GO:0005737cytoplasm IDA17545563

    EXOSC9 for ontologies           About GeneDecksing



    EXOSC9 Antibody Products: 
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    Uscn ELISAs and CLIAs for EXOSC9


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

    EXOSC9 for domains           About GeneDecksing

    3 InterPro domains/families:
     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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

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

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


    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for EXOSC9 

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate EXOSC9:
    hsa-miR-633
    SwitchGear 3'UTR luciferase reporter plasmidEXOSC9 3' UTR sequence
    Inhib. RNA
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    Clone
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EXOSC9


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Destabilization of mRNA by Tristetraprolin (TTP)
    Destabilization of mRNA by Tristetraprolin (TTP)1.00
    mRNA Decay by 3' to 5' Exoribonuclease0.56
    Destabilization of mRNA by Butyrate Response Factor 1 (BRF1)0.79
    Destabilization of mRNA by KSRP0.48
    2Deadenylation-dependent mRNA decay
    Deadenylation-dependent mRNA decay1.00
    RNA degradation0.50
    3Metabolism of mRNA
    Metabolism of mRNA1.00
    Metabolism of RNA0.92
    4ATP/ITP metabolism
    ATP/ITP metabolism1.00
    ATP/ITP metabolism0.98
    5Ubiquitinated Orc1 is degraded by the proteasome
    Regulation of mRNA Stability by Proteins that Bind AU-rich Elements0.55

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for EXOSC9
        ATP/ITP metabolism


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

    5/9        Reactome Pathways for EXOSC9 (see all 9)
        Regulation of mRNA Stability by Proteins that Bind AU-rich Elements
    Destabilization of mRNA by Butyrate Response Factor 1 (BRF1)
    Destabilization of mRNA by KSRP
    mRNA Decay by 3' to 5' Exoribonuclease
    Deadenylation-dependent mRNA decay


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


    EXOSC9 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for EXOSC9

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

    5/83 Interacting proteins for EXOSC9 (Q062652, 3 ENSP000003689844) via UniProtKB, MINT, STRING, and/or I2D (see all 83)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EXOSC1Q9Y3B22, 3, ENSP000003599394MINT-7993644 MINT-7993893 MINT-7993837 MINT-7988296 MINT-7993717 I2D: score=2 STRING: ENSP00000359939
    EXOSC7Q150242, 3, ENSP000002655644MINT-7993644 MINT-7993893 MINT-7993837 MINT-7988296 MINT-7993717 I2D: score=2 STRING: ENSP00000265564
    EXOSC5Q9NQT42, 3, ENSP000002212334MINT-7993644 MINT-7993837 MINT-7988296 MINT-7993717 I2D: score=1 STRING: ENSP00000221233
    EXOSC6Q5RKV62, 3, ENSP000003985974MINT-7993644 MINT-7993837 MINT-7988296 I2D: score=1 STRING: ENSP00000398597
    EXOSC4Q9NPD32, 3, ENSP000003154764MINT-7993644 MINT-7993893 MINT-7993837 MINT-7988296 MINT-7993717 I2D: score=11 STRING: ENSP00000315476
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for EXOSC9
    Search CenterWatch for drugs/clinical trials and news about EXOSC9 / EXOS9 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for 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


    miRNA
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    Additional cDNA 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.91774289 
    DT.100036712  DT.100700269  DT.100713796  DT.95341715  DT.100022996  DT.91774290  DT.121257011  DT.407371 
    DT.455397  DT.91965981  DT.95341757  DT.91996848 

    24/196 AceView cDNA sequences (see all 196):

    AA937087 CR600057 CR595328 AU117956 BC012371 BM991858 BF940295 BE046954 
    BU195002 CR596830 U09215 AI309188 M58460 BU620987 BF974787 BE253559 
    BE079624 BX340304 AI521790 NM_005033 F11188 AW615244 BI830420 AA316393 

    GeneLoc Exon Structure

    5/8 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™, 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

    EXOSC9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AACAAACATC
    EXOSC9 Expression
    About this image
    See EXOSC9 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EXOSC9

    SOURCE GeneReport for Unigene cluster: Hs.91728
        SABiosciences Custom PCR Arrays for EXOSC9

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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for EXOSC9 gene from 10/35 species (see all 35)    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 74.98(n)
    78.95(a)
      619530  NM_001034828.1  NP_001030000.1 
    lizard
    (Anolis carolinensis)
    Reptilia EXOSC96
    --
    78(a)
    1 ↔ 1
    5(139052172-139064875)
    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 Rrp451 CG9606-PA 44.76(n)
    35.22(a)
      32665  NM_132935.2  NP_573163.1 
    worm
    (Caenorhabditis elegans)
    Secernentea exos-91 Protein EXOS-9 46.55(n)
    33.65(a)
      176012  NM_171186.3  NP_741217.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RRP45(YDR280W)4
    RRP451
    Exosome non-catalytic core component; involved in 3'-5' more4
    Rrp45p1
    48.86(n)1
    36.46(a)1
      4(1020747-1021664)4
    8518741, 4  NP_010566.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RRP45a1 ribonuclease PH45A 50(n)
    44.03(a)
      820485  NM_001035607.2  NP_001030684.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g05507001 hypothetical protein 51.85(n)
    43.46(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)
    About This Section
    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, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/301 NCBI SNPs in EXOSC9 are shown (see all 301    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs729159491,2
    C--118447722(+) TAATCC/TCCTTG 2 -- us2k12Minor allele frequency- T:0.04WA 120
    rs1119750891,2
    C,F--118448027(+) TTTTGC/TCTTTT 2 -- us2k14Minor allele frequency- T:0.13NA CSA WA 242
    rs2015605941,2
    C--118448414(-) AAAAAA/CAAAAC 2 -- us2k10--------
    rs623226201,2
    C--118449164(+) CGCCGC/TCGCGC 2 -- us2k12Minor allele frequency- T:0.04NA 122
    rs578805931,2
    F--118449397(+) GTCTCA/CAGGTG 2 -- int11Minor allele frequency- C:0.15WA 118
    rs1124778711,2
    F--118449596(+) CCCCAG/AGTGCT 2 -- int11Minor allele frequency- A:0.50CSA 6
    rs1127231821,2
    --118451228(+) AGAAGC/GAGGTA 2 -- int12Minor allele frequency- G:0.04CSA WA 120
    rs414627461,2
    C,F,H--118452231(-) ACTACG/AATTTT 2 -- int112Minor allele frequency- A:0.08NS EA NA WA 1338
    rs415051541,2
    C,F--118452293(+) ACGACC/TCACAT 2 -- int16Minor allele frequency- T:0.08NS EA NA WA 546
    rs726807481,2
    C--118452730(+) TTTCTA/GAAAAT 2 -- int12Minor allele frequency- G:0.04NA 122

    HapMap Linkage Disequilibrium report for EXOSC9 (122722472 - 122738176 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for EXOSC9: --

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

    EXOSC9 for disorders           About GeneDecksing

    OMIM gene information: 606180    OMIM disorders: --

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


    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)
    About This Section

    PubMed articles for EXOSC9 gene, integrated from 9 sources (see all 42):
    (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. (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. (2007)
    3. Reconstitution, activities, and structure of the eukaryotic RNA exosome. (PubMed id 17174896)1, 2 Liu Q.... Lima C.D. (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. (2006)
    5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (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. (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. (2002)
    8. AU binding proteins recruit the exosome to degrade ARE-containing mRNAs. (PubMed id 11719186)1, 2 Chen C.-Y.... Karin M. (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. (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. (1991)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 5393 HGNC: 9137 AceView: EXOSC9 Ensembl:ENSG00000123737 euGenes: HUgn5393
    ECgene: EXOSC9 Kegg: 5393 H-InvDB: EXOSC9

    (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 EXOSC9 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 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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