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

EXOSC6 Gene

protein-coding   GIFtS: 51
GCID: GC16M070284

Exosome Component 6

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Exosome Component 61 2 3     Mtr3p2
MTR32 3     Exosome Complex Component MTR32
hMtr32 3     Exosome Complex Exonuclease MTR32
MRNA Transport Regulator 3 Homolog2 3     hMtr3p2
p112 3     Homolog Of Yeast MRNA Transport Regulator 32
Mtr3 (MRNA Transport Regulator 3)-Homolog (Yeast)1     Mtr3 (MRNA Transport Regulator 3)-Homolog2
EAP42     

External Ids:    HGNC: 190551   Entrez Gene: 1184602   Ensembl: ENSG000002234967   OMIM: 6064905   UniProtKB: Q5RKV63   

Export aliases for EXOSC6 gene to outside databases

Previous GC identifers: GC16M070061 GC16M068841 GC16M056117


(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 EXOSC6 Gene:
This gene product constitutes one of the subunits of the multisubunit particle called exosome, which mediates mRNA
degradation. The composition of human exosome is similar to its yeast counterpart. This protein is homologous to
the yeast Mtr3 protein. Its exact function is not known, however, it has been shown using a cell-free RNA decay
system that the exosome is required for rapid degradation of unstable mRNAs containing AU-rich elements (AREs),
but not for poly(A) shortening. The exosome does not recognize ARE-containing mRNAs on its own, but requires
ARE-binding proteins that could interact with the exosome and recruit it to unstable mRNAs, thereby promoting
their rapid degradation. (provided by RefSeq, Jul 2008)

GeneCards Summary for EXOSC6 Gene: 
EXOSC6 (exosome component 6) is a protein-coding gene. Diseases associated with EXOSC6 include alcoholic hepatitis, and alcoholism, and among its related super-pathways are RNA degradation and Destabilization of mRNA by Tristetraprolin (TTP). GO annotations related to this gene include RNA binding and exoribonuclease activity. An important paralog of this gene is EXOSC4.

UniProtKB/Swiss-Prot: EXOS6_HUMAN, Q5RKV6
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

Gene Wiki entry for EXOSC6 (Exosome component 6) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EXOSC6 gene promoter:
         SRF   SRF (504 AA)   C/EBPalpha   GATA-2   AREB6   CHOP-10   IRF-2   COMP1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEXOSC6 promoter sequence
   Search SABiosciences Chromatin IP Primers for EXOSC6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EXOSC6


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

Entrez Gene cytogenetic band: 16q22.1   Ensembl cytogenetic band:  16q22.1   HGNC cytogenetic band: 16q22.1

EXOSC6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EXOSC6 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M070284:  view genomic region     (about GC identifiers)

Start:
70,284,134 bp from pter      End:
70,285,833 bp from pter
Size:
1,700 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: EXOS6_HUMAN, Q5RKV6 (See protein sequence)
Recommended Name: Exosome complex component MTR3  
Size: 272 amino acids; 28235 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 (Probable). Nucleus, nucleolus (Probable). Nucleus (Probable)
Caution: The six exosome core subunits containing a RNase PH-domain are not phosphorolytically active
1 PDB 3D structure from and Proteopedia for EXOSC6:
2NN6 (3D)    

Explore the universe of human proteins at neXtProt for EXOSC6: NX_Q5RKV6

Explore proteomics data for EXOSC6 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5RKV6

  • EXOSC6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EXOSC6 Protein Expression
    REFSEQ proteins: NP_478126.1  
    ENSEMBL proteins: 
     ENSP00000398597  
    Reactome Protein details: Q5RKV6
    Human Recombinant Protein Products for EXOSC6: 
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    OriGene Custom Protein Services for EXOSC6
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    Novus Biologicals EXOSC6 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EXOSC6 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000178exosome (RNase complex) IDA--
    GO:0005730nucleolus IEA--
    GO:0005829cytosol TAS--

    EXOSC6 for ontologies           About GeneDecksing



    EXOSC6 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for EXOSC6 

    Assay Products for EXOSC6: 
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for EXOSC6 
    Cloud-Clone Corp. CLIAs for EXOSC6


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR015847 ExoRNase_PH_dom2
     IPR001247 ExoRNase_PH_dom1
     IPR020568 Ribosomal_S5_D2-typ_fold
     IPR027408 PNPase/RNase_PH_dom

    Graphical View of Domain Structure for InterPro Entry Q5RKV6

    ProtoNet protein and cluster: Q5RKV6

    UniProtKB/Swiss-Prot: EXOS6_HUMAN, Q5RKV6
    Similarity: Belongs to the RNase PH family


    EXOSC6 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EXOS6_HUMAN, Q5RKV6
    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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0004532NOT exoribonuclease activity IDA17174896
         
    EXOSC6 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for EXOSC6:
     Upregulation of Wnt/beta-caten 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for EXOSC6 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for EXOSC6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EXOSC6 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EXOSC6 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EXOSC6
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    SwitchGear 3'UTR luciferase reporter plasmidEXOSC6 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: EXOSC6 (NM_058219)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EXOSC6
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                         Customized lentivirus expression plasmids for stable overexpression of EXOSC6 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EXOSC6


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

    SuperPaths for EXOSC6 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Deadenylation-dependent mRNA decay
    Deadenylation-dependent mRNA decay0.49
    RNA degradation0.49
    2Destabilization of mRNA by Tristetraprolin (TTP)
    Destabilization of mRNA by Tristetraprolin (TTP)0.79
    mRNA Decay by 3' to 5' Exoribonuclease0.56
    Destabilization of mRNA by Butyrate Response Factor 1 (BRF1)0.79
    Destabilization of mRNA by KSRP0.56
    3Metabolism of mRNA
    Metabolism of mRNA0.92
    Metabolism of RNA0.92
    4CDK-mediated phosphorylation and removal of Cdc6
    Regulation of mRNA Stability by Proteins that Bind AU-rich Elements0.63
    5Generic Transcription Pathway
    Gene Expression0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for EXOSC6
        ATP/ITP metabolism


    1 GeneGo (Thomson Reuters) Pathway for EXOSC6
        ATP/ITP metabolism

    5/9        Reactome Pathways for EXOSC6 (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 EXOSC6):
        RNA degradation


    EXOSC6 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for EXOSC6

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

    5/650 Interacting proteins for EXOSC6 (Q5RKV62, 3 ENSP000003985974) via UniProtKB, MINT, STRING, and/or I2D (see all 650)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EXOSC7Q150242, 3, ENSP000002655644MINT-7993644 MINT-7993837 MINT-7988296 I2D: score=3 STRING: ENSP00000265564
    EXOSC2Q138682, 3, ENSP000003614334MINT-7993644 MINT-7993837 MINT-7988296 I2D: score=2 STRING: ENSP00000361433
    EIF3IQ133472, 3, ENSP000003626884MINT-7945693 I2D: score=3 STRING: ENSP00000362688
    SRSF3P841032, 3, ENSP000003628204MINT-7945693 I2D: score=3 STRING: ENSP00000362820
    UPF2Q9HAU52, 3, ENSP000003487084MINT-7945693 I2D: score=2 STRING: ENSP00000348708
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000288nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay TAS--
    GO:0006364rRNA processing IEA--
    GO:0010467gene expression TAS--
    GO:0016070RNA metabolic process TAS--
    GO:0016071mRNA metabolic process TAS--

    EXOSC6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for EXOSC6 (EXOS6)

    Search CenterWatch for drugs/clinical trials and news about EXOSC6 / EXOS6

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for EXOSC6 gene: 
    NM_058219.2  

    Unigene Clusters for EXOSC6:

    Exosome component 6
    Hs.660633  [show with all ESTs], Hs.744085  [show with all ESTs]
    Unigene Representative Sequences: BC052252, AK024276
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000435634(uc002eym.1)
    miRNA
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    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: EXOSC6 (NM_058219)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EXOSC6
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EXOSC6
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EXOSC6

    Additional mRNA sequence: 

    AF126109.1 AK024276.1 

    12 DOTS entries:

    DT.95261094  DT.100697465  DT.120681841  DT.120681833  DT.439475  DT.120697983  DT.120708757  DT.120717308 
    DT.447834  DT.121370041  DT.75179282  DT.99981312 

    24/96 AceView cDNA sequences (see all 96):

    AI354779 Z38937 AA426518 AI280473 BM991534 BX336750 NM_058219 N20606 
    AA425031 AA495976 CR604283 BC052252 AI694784 AI299792 AI400117 AW301163 
    BM674768 AK095542 BX451952 AI270488 W01046 BX376700 AI039741 BX451953 

    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™, 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

    EXOSC6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGGCCAGGC
    EXOSC6 Expression
    About this image


    See EXOSC6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EXOSC6

    SOURCE GeneReport for Unigene clusters: Hs.660633 Hs.744085
        SABiosciences Custom PCR Arrays for EXOSC6
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EXOSC6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EXOSC6

    (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 EXOSC6 gene from 8/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Exosc61 , 5 exosome component 61, 5 86.64(n)1
    91.91(a)1
      8 (57.92 cM)5
    725441  NM_028274.31  NP_082550.11 
     1110563395 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.66532 Xenopus laevis transcribed sequence with weak similarity more 75.62(n)    48033981 
    zebrafish
    (Danio rerio)
    Actinopterygii idibd11302 idibd1130 74.75(n)   338229  57061045 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mtr31 CG8025-PA 47.83(n)
    36.23(a)
      40173  NM_140900.4  NP_649157.1 
    worm
    (Caenorhabditis elegans)
    Secernentea exos-4.26
    Protein EXOS-4.2
    23(a)
    1 ↔ 1
    III(860198-861299)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SKI66
    Exosome non-catalytic core component; involved in ...
    21(a)
    1 → many
    VII(888882-889622)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G274901 3'-5'-exoribonuclease family protein 41.17(n)
    33.64(a)
      828858  NM_118884.2  NP_194479.2 
    rice
    (Oryza sativa)
    Liliopsida Os08g01168001 hypothetical protein 45.01(n)
    37.97(a)
      4344519  NM_001067391.1  NP_001060856.1 


    ENSEMBL Gene Tree for EXOSC6 (if available)
    TreeFam Gene Tree for EXOSC6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EXOSC6 gene
    EXOSC42  

    EXOSC6 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for EXOSC6
    PGOHUM00000260388


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/46 SNPs in EXOSC6 are shown (see all 46)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1477620871,2
    C--70283875(+) AAAATA/TAAAAG 1 -- ds50010--------
    rs1893970891,2
    --70283909(+) CAGGCC/TCGACA 1 -- ds50010--------
    rs1919791051,2
    C--70284004(+) AAATAA/GAAGCC 1 -- ds50010--------
    rs1400760261,2
    --70284008(+) AAAAGC/TCTTCC 1 -- ds50010--------
    rs1504186891,2
    C--70284027(+) CTAAA-/AATAAT
            
    AATAA
    1 -- ds50010--------
    rs562195611,2
    C--70284042(+) ATAAT-/AATAAT
            
    GGTTT
    1 -- ds50012Minor allele frequency- AATAAT:0.25NA 4
    rs1503096831,2
    --70284053(+) GGTTTC/TATATA 1 -- ds50010--------
    rs1852063871,2
    --70284093(+) ATAAAC/TAGCAA 1 -- ds50010--------
    rs1477070921,2
    C--70284144(+) CTACA-/TTTTTT 1 -- ut310--------
    rs1901417051,2
    --70284307(+) TGGCTC/GACACC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for EXOSC6 (70284134 - 70285833 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for EXOSC6:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv906868CNV Loss21882294
    nsv833271CNV Gain+Loss17160897
    esv25519CNV Gain+Loss19812545
    esv33745CNV Gain+Loss17666407
    nsv428328CNV Gain+Loss18775914
    dgv896e1CNV Complex17122850
    dgv895e1CNV Complex17122850
    nsv7285OTHER Inversion18451855

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    (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.)
    About This Section
    OMIM gene information: 606490    OMIM disorders: --

    4 diseases for EXOSC6:    About MalaCards
    alcoholic hepatitis    alcoholism    liver disease    hepatitis


    EXOSC6 for disorders           About GeneDecksing


    Export disorders for EXOSC6 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 EXOSC6 gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with EXOSC6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring. (PubMed id 12419256)1, 2, 3 Raijmakers R.... Pruijn G.J.M. (2002)
    2. AU binding proteins recruit the exosome to degrade ARE-containing mRNAs. (PubMed id 11719186)1, 2, 3 Chen C.-Y.... Karin M. (2001)
    3. The RNA exosome targets the AID cytidine deaminase to both strands of transcribed duplex DNA substrates. (PubMed id 21255825)1, 2 Basu U.... Alt F.W. (2011)
    4. Dis3-like 1: a novel exoribonuclease associated with the human exosome. (PubMed id 20531389)1, 2 Staals R.H....Pruijn G.J. (2010)
    5. Reconstitution, activities, and structure of the eukaryotic RNA exosome. (PubMed id 17174896)1, 2 Liu Q.... Lima C.D. (2006)
    6. A protein interaction framework for human mRNA degradation. (PubMed id 15231747)1, 2 Lehner B. and Sanderson C.M. (2004)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    8. Interactome study suggests multiple cellular functions of hepatoma-derived growth factor (HDGF). (PubMed id 21907836)1 Zhao J....Yang P. (2011)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)

    (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: 118460 HGNC: 19055 AceView: EXOSC6 Ensembl:ENSG00000223496 euGenes: HUgn118460
    ECgene: EXOSC6 Kegg: 118460 H-InvDB: EXOSC6

    (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 EXOSC6 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 EXOSC6 gene:
    Search GeneIP for patents involving EXOSC6

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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