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

EXOSC3 Gene

protein-coding   GIFtS: 61
GCID: GC09M037772

Exosome Component 3

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)
About This Section

Aliases
Exosome Component 31 2 3     RP11-3J10.82
Ribosomal RNA-Processing Protein 402 3     Rrp40p2
RRP402 3     bA3J10.72
p102 3     Exosome Complex Component RRP402
CGI-102 Protein1     Exosome Complex Exonuclease RRP402
Exosome Component Rrp401     hRrp-402
PCH1B2     

External Ids:    HGNC: 179441   Entrez Gene: 510102   Ensembl: ENSG000001073717   OMIM: 6064895   UniProtKB: Q9NQT53   

Export aliases for EXOSC3 gene to outside databases

Previous GC identifer: GC09M037771


(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 EXOSC3 Gene:
This gene encodes a non-catalytic component of the human exosome, a complex with 3'-5' exoribonuclease activity
that plays a role in numerous RNA processing and degradation activities. Related pseudogenes of this gene are
found on chromosome 19 and 21. Alternatively spliced transcript variants encoding different isoforms have been
described. (provided by RefSeq, Jun 2012)

GeneCards Summary for EXOSC3 Gene: 
EXOSC3 (exosome component 3) is a protein-coding gene. Diseases associated with EXOSC3 include pontocerebellar hypoplasia, type 1b, and cysticercosis, 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.

UniProtKB/Swiss-Prot: EXOS3_HUMAN, Q9NQT5
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. EXOSC3 as peripheral part of the Exo-9 complex
stabilizes the hexameric ring of RNase PH-domain subunits through contacts with EXOSC9 and EXOSC5

Gene Wiki entry for EXOSC3 (Exosome component 3) 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_000009.11  NC_018920.2  NT_008413.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EXOSC3 gene promoter:
         SRF   AREB6   Pax-5   HNF-1   HNF-1A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEXOSC3 promoter sequence
   Search SABiosciences Chromatin IP Primers for EXOSC3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EXOSC3


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

Entrez Gene cytogenetic band: 9p11   Ensembl cytogenetic band:  9p13.2   HGNC cytogenetic band: 9p11

EXOSC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EXOSC3 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M037772:  view genomic region     (about GC identifiers)

Start:
37,766,975 bp from pter      End:
37,801,434 bp from pter
Size:
34,460 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: EXOS3_HUMAN, Q9NQT5 (See protein sequence)
Recommended Name: Exosome complex component RRP40  
Size: 275 amino acids; 29572 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. Interacts
with GTPBP1. Interacts with ZC3HAV1. Interacts with DDX17 only in the presence of ZC3HAV1 in an RNA-independent
manner
Subcellular location: Cytoplasm. Nucleus, nucleolus. Nucleus
1 PDB 3D structure from and Proteopedia for EXOSC3:
2NN6 (3D)    
Secondary accessions: A8K0K6 Q5QP85 Q9Y3A8
Alternative splicing: 2 isoforms:  Q9NQT5-1   Q9NQT5-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for EXOSC3: NX_Q9NQT5

Explore proteomics data for EXOSC3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NQT5

  • EXOSC3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EXOSC3 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001002269.1  NP_057126.2  

    ENSEMBL proteins: 
     ENSP00000418422   ENSP00000323046   ENSP00000379775  
    Reactome Protein details: Q9NQT5
    Human Recombinant Protein Products for EXOSC3: 
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    Novus Biologicals EXOSC3 Proteins
    Novus Biologicals EXOSC3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EXOSC3 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000176nuclear exosome (RNase complex) IDA11110791
    GO:0000177cytoplasmic exosome (RNase complex) IDA11110791
    GO:0000178exosome (RNase complex) IDA--
    GO:0005634nucleus IDA17545563
    GO:0005730nucleolus IDA--

    EXOSC3 for ontologies           About GeneDecksing



    EXOSC3 Antibody Products: 
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    Cloud-Clone Corp. CLIAs for EXOSC3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR026699 Exosome_RNA_bind1/RRP40/RRP4

    Graphical View of Domain Structure for InterPro Entry Q9NQT5

    ProtoNet protein and cluster: Q9NQT5

    UniProtKB/Swiss-Prot: EXOS3_HUMAN, Q9NQT5
    Similarity: Belongs to the RRP40 family


    EXOSC3 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: EXOS3_HUMAN, Q9NQT5
    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. EXOSC3 as peripheral part of the Exo-9 complex
    stabilizes the hexameric ring of RNase PH-domain subunits through contacts with EXOSC9 and EXOSC5

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00001753'-5'-exoribonuclease activity NAS11110791
    GO:0003723RNA binding IEA--
    GO:0003735structural constituent of ribosome IEA--
    GO:0004532NOT exoribonuclease activity IDA17174896
    GO:0005515protein binding IPI11719186
         
    EXOSC3 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for EXOSC3:
     Decreased Tat-dependent transc  Decreased p24 protein expressi  Increased gamma-H2AX phosphory  Metaphase cells 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for EXOSC3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for EXOSC3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EXOSC3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EXOSC3 

    miRNA
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    6 QIAGEN miScript miRNA Assays for microRNAs that regulate EXOSC3:
    hsa-miR-181c hsa-miR-3622b-3p hsa-miR-181a hsa-miR-181d hsa-miR-4262 hsa-miR-181b
    SwitchGear 3'UTR luciferase reporter plasmidEXOSC3 3' UTR sequence
    Inhib. RNA
    Products:
        
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    OriGene RNAi products in human, mouse, rat for EXOSC3
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    Gene Editing
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): EXOSC3 (NM_016042)
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EXOSC3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EXOSC3
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                         Customized lentivirus expression plasmids for stable overexpression of EXOSC3 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EXOSC3


    (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 EXOSC3 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 EXOSC3
        ATP/ITP metabolism


    1 GeneGo (Thomson Reuters) Pathway for EXOSC3
        ATP/ITP metabolism

    5/9        Reactome Pathways for EXOSC3 (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 EXOSC3):
        RNA degradation


    EXOSC3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for EXOSC3

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

    5/79 Interacting proteins for EXOSC3 (Q9NQT51, 2, 3 ENSP000003230464) via UniProtKB, MINT, STRING, and/or I2D (see all 79)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EXOSC5Q9NQT41, 2, 3, ENSP000002212334EBI-371866,EBI-371876 MINT-7993644 MINT-7993837 MINT-7988296 I2D: score=4 STRING: ENSP00000221233
    DIS3LQ8TF462, 3, ENSP000003217114MINT-7993644 MINT-7993837 MINT-7988296 MINT-7988352 I2D: score=1 STRING: ENSP00000321711
    EXOSC9Q062652, 3, ENSP000003689844MINT-7993644 MINT-7993837 MINT-7988296 I2D: score=6 STRING: ENSP00000368984
    ENSG00000206353Q154773I2D: score=1 
    ENSG00000223493Q154773I2D: score=1 
    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:0006364rRNA processing IDA11110791
    GO:0006412translation IEA--
    GO:0010467gene expression TAS--
    GO:0016070RNA metabolic process TAS--

    EXOSC3 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 EXOSC3 (EXOS3)

    Search CenterWatch for drugs/clinical trials and news about EXOSC3 / EXOS3

    (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 EXOSC3 gene (2 alternative transcripts): 
    NM_001002269.2  NM_016042.3  

    Unigene Clusters for EXOSC3:

    Exosome component 3
    Hs.602571  [show with all ESTs], Hs.713483
    Unigene Representative Sequences: NM_016042, AK289571
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000465229(uc004aam.2) ENST00000327304(uc004aal.2 uc010mly.1)
    ENST00000490516 ENST00000396521 ENST00000489414(uc004aan.1) ENST00000482614
    ENST00000465860 ENST00000496910
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    6 QIAGEN miScript miRNA Assays for microRNAs that regulate EXOSC3:
    hsa-miR-181c hsa-miR-3622b-3p hsa-miR-181a hsa-miR-181d hsa-miR-4262 hsa-miR-181b
    SwitchGear 3'UTR luciferase reporter plasmidEXOSC3 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: AK289571.1 

    14 DOTS entries:

    DT.95272223  DT.121192700  DT.85101877  DT.121192775  DT.100761390  DT.92426432  DT.121192661  DT.121192670 
    DT.95356515  DT.95272225  DT.121192564  DT.121192832  DT.40199637  DT.87016681 

    24/203 AceView cDNA sequences (see all 203):

    BF056600 AI919169 BE048144 BF940430 BF058788 AJ709343 AA548974 BQ574958 
    BC008880 NM_016042 AI652804 BM929738 BE385536 BE348258 AI656441 AI079168 
    AI492101 AI824938 AA486084 BM699520 AA258150 BF683358 AW590519 AI919231 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for EXOSC3    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c
    SP1:              -                 -                     
    SP2:              -           -     -                     
    SP3:              -                                       
    SP4:                          -     -                     


    ECgene alternative splicing isoforms for EXOSC3

    (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

    EXOSC3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACGTCAGATC
    EXOSC3 Expression
    About this image


    See EXOSC3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EXOSC3

    SOURCE GeneReport for Unigene clusters: Hs.602571 Hs.713483
        SABiosciences Custom PCR Arrays for EXOSC3
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EXOSC3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EXOSC3

    (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 EXOSC3 gene from 10/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Exosc31 , 5 exosome component 31, 5 84.67(n)1
    87.59(a)1
      4 (23.84 cM)5
    663621  NM_025513.31  NP_079789.11 
     453166135 
    chicken
    (Gallus gallus)
    Aves EXOSC31 exosome component 3 70.18(n)
    73.05(a)
      423626  NM_001199516.1  NP_001186445.1 
    lizard
    (Anolis carolinensis)
    Reptilia EXOSC36
    Uncharacterized protein
    74(a)
    1 ↔ 1
    GL343233.1(1811308-1819886)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.247612 Xenopus laevis transcribed sequence with weak similarity more 76.21(n)    CA971569.1 
    zebrafish
    (Danio rerio)
    Actinopterygii exosc31 exosome component 3 66.23(n)
    67.25(a)
      565000  NM_001029961.1  NP_001025132.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rrp401 CG31938-PA 50.38(n)
    45.16(a)
      319033  NM_164435.2  NP_722725.1 
    worm
    (Caenorhabditis elegans)
    Secernentea exos-31 Protein EXOS-3 48.86(n)
    40.2(a)
      186604  NM_060350.3  NP_492751.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RRP40(YOL142W)4
    RRP401
    Exosome non-catalytic core component; involved in 3'-5' more4
    Rrp40p1
    46.99(n)1
    36.61(a)1
      15(55558-56280)4
    8540231, 4  NP_014499.21  NP_014499.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G253551 exosome complex component RRP40 49.17(n)
    40(a)
      817074  NM_128093.2  NP_565592.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g06614001 hypothetical protein 50.83(n)
    40(a)
      4327851  NM_001050313.1  NP_001043778.1 


    ENSEMBL Gene Tree for EXOSC3 (if available)
    TreeFam Gene Tree for EXOSC3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EXOSC3 gene
    1 SIMAP similar gene for EXOSC3 using alignment to 1 protein entry:     EXOS3_HUMAN:
    PNAS-3

    EXOSC3 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for EXOSC3
    PGOHUM00000248608 PGOHUM00000234125 PGOHUM00000239164


    (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

    10/205 SNPs in EXOSC3 are shown (see all 205)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0685084
    Pontocerebellar hypoplasia 1B (PCH1B)4--see VAR_0685082 W R mis40--------
    VAR_0685074
    Pontocerebellar hypoplasia 1B (PCH1B)4--see VAR_0685072 A P mis40--------
    VAR_0685054
    Pontocerebellar hypoplasia 1B (PCH1B)4--see VAR_0685052 G A mis40--------
    rs1411389481,2,4
    C,FPontocerebellar hypoplasia 1B (PCH1B)4 --37752033(+) CAACAT/GCAACT 4 /D /A mis12Minor allele frequency- G:0.00NA EU 5873
    rs70391371,2
    C,F,H--37747424(+) gcagcA/Gacttg 2 -- ds50018Minor allele frequency- G:0.09NS EA NA WA 774
    rs1824828241,2
    --37747446(+) AAGCTA/GTTATT 2 -- ds50010--------
    rs1852348701,2
    --37747447(+) AGCTAC/TTATTC 2 -- ds50010--------
    rs1148269451,2
    F--37747481(+) AAAACC/TAAATA 2 -- ds50011Minor allele frequency- T:0.03WA 118
    rs120029721,2
    C,F,H--37747482(+) aaaccA/Caatac 2 -- ds50013Minor allele frequency- C:0.10NA WA 242
    rs114202981,2
    C--37747502(+) CACTTG/-TAAGT 2 -- ds50011Minor allele frequency- -:0.50CSA 2

    HapMap Linkage Disequilibrium report for EXOSC3 (37766975 - 37801434 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for EXOSC3:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv831552CNV Gain17160897
    nsv893062CNV Gain21882294
    nsv469814CNV Gain16826518


    Human Gene Mutation Database (HGMD): EXOSC3
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing EXOSC3
    DNA2.0 Custom Variant and Variant Library Synthesis for EXOSC3

    (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: 606489    OMIM disorders: --

    UniProtKB/Swiss-Prot: EXOS3_HUMAN, Q9NQT5
  • Pontocerebellar hypoplasia 1B (PCH1B) [MIM:614678]: A severe autosomal recessive neurologic disorder
    characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is
    diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 8 diseases for EXOSC3:    About MalaCards
    pontocerebellar hypoplasia, type 1b    cysticercosis    borna disease    paracoccidioidomycosis
    pontocerebellar hypoplasia    status epilepticus    microcephaly    neuronitis


    EXOSC3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): EXOSC3
    Human Genome Epidemiology (HuGE) Navigator: EXOSC3 (1 document)

    Export disorders for EXOSC3 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 EXOSC3 gene, integrated from 9 sources (see all 39):
    (articles sorted by number of sources associating them with EXOSC3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Three novel components of the human exosome. (PubMed id 11110791)1, 2, 3 Brouwer R....Pruijn G.J. (2001)
    2. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2, 3 Lai C.H....Lin W. (2000)
    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. RNA exosome depletion reveals transcription upstream of active human promoters. (PubMed id 19056938)1, 2 Preker P.... Jensen T.H. (2008)
    6. 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)
    7. Reconstitution, activities, and structure of the eukaryotic RNA exosome. (PubMed id 17174896)1, 2 Liu Q.... Lima C.D. (2006)
    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. (2004)
    9. The mammalian exosome mediates the efficient degradation of mRNAs that contain AU-rich elements. (PubMed id 11782436)1, 2 Mukherjee D....Wilusz J. (2002)
    10. AU binding proteins recruit the exosome to degrade ARE-containing mRNAs. (PubMed id 11719186)1, 2 Chen C.-Y.... Karin M. (2001)

    (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: 51010 HGNC: 17944 AceView: EXOSC3 Ensembl:ENSG00000107371 euGenes: HUgn51010
    ECgene: EXOSC3 Kegg: 51010 H-InvDB: EXOSC3

    (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 EXOSC3 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 EXOSC3 gene:
    Search GeneIP for patents involving EXOSC3

    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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