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EXOSC3 Gene

protein-coding   GIFtS: 61
GCID: GC09M037772

Exosome Component 3

  See EXOSC3-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 31 2 3     Exosome Component Rrp401
RRP402 3 5     Rrp40p2
Ribosomal RNA-Processing Protein 402 3     bA3J10.72
p102 3     Exosome Complex Component RRP402
PCH1B2 5     Exosome Complex Exonuclease RRP402
CGI-102 Protein1     hRrp-402

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 pontocerebellar hypoplasia. GO annotations related to this gene include 3'-5'-exoribonuclease activity and RNA binding.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NC_018920.2  NT_008413.19  
Regulatory elements:
   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 Chromatin IP Primers for EXOSC3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: 

  • Ubiquitination2 at Lys113
  • Modification sites at PhosphoSitePlus

  • See EXOSC3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000418422   ENSP00000323046   ENSP00000379775  
    Reactome Protein details: Q9NQT5

    EXOSC3 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for EXOSC3

     
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    antibodies-online proteins for EXOSC3 (6 products) 

     
    antibodies-online peptides for EXOSC3

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    EXOSC3 Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR012340 NA-bd_OB-fold
     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


    Find genes that share domains with EXOSC3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00001753'-5'-exoribonuclease activity NAS11110791
    GO:0003723RNA binding IEA--
    GO:0004532NOT exoribonuclease activity IDA17174896
    GO:0005515protein binding IPI11719186
         
    Find genes that share ontologies with EXOSC3           About GenesLikeMe


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

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Exosc3):
     normal 

    Find genes that share phenotypes with EXOSC3           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for EXOSC3

    miRNA
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    6 qRT-PCR 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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    Predesigned siRNA for gene silencing in human, mouse, rat EXOSC3

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    Browse Sino Biological Human cDNA Clones
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    EXOS3_HUMAN, Q9NQT5: Cytoplasm. Nucleus, nucleolus. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    mitochondrion2

    Gene Ontology (GO): Selected cellular component terms (see all 8):    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--

    Find genes that share ontologies with EXOSC3           About GenesLikeMe


    (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 EXOSC3 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


    Find genes that share SuperPaths with EXOSC3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    5 Reactome Pathways for EXOSC3
        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 EXOSC3):
        RNA degradation

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EXOSC3
    Interactions:

        Search GeneGlobe Interaction Network for EXOSC3

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

    Selected Interacting proteins for EXOSC3 (Q9NQT51, 2, 3 ENSP000003230464) via UniProtKB, MINT, STRING, and/or I2D (see all 103)
    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): Selected biological process terms (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:0010467gene expression TAS--
    GO:0016070RNA metabolic process TAS--
    GO:0016071mRNA metabolic process TAS--

    Find genes that share ontologies with EXOSC3           About GenesLikeMe



    (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 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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for EXOSC3 gene (2 alternative transcripts): 
    NM_001002269.2  NM_016042.3  

    Unigene Cluster for EXOSC3:

    Exosome component 3
    Hs.602571  [show with all ESTs]
    Unigene Representative Sequence: NM_016042
    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
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      QuantiFast Probe-based Assays in human, mouse, rat EXOSC3

    Additional mRNA sequence: 

    AF151860.1 AF281132.1 AK290864.1 BC002437.2 BC008880.2 

    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 

    Selected AceView cDNA sequences (see all 203):

    AI343413 BC002437 AW236071 AA760696 CA414231 BF058788 AI919169 AI919231 
    CB129657 BE348258 AI492101 AI634814 BM929738 AI824903 BF940430 AI652933 
    AI652804 AA287947 BU607375 AA548974 AI079168 BM725706 AI824938 AI910469 

    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™, 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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    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

    EXOSC3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EXOSC3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.602571
        Custom PCR Arrays for EXOSC3
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    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for EXOSC3 gene from Selected 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
    exosome component 3
    73(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 Rrp40 52.2(n)
    48.68(a)
      319033  NM_164435.3  NP_722725.1 
    worm
    (Caenorhabditis elegans)
    Secernentea exos-31 exos-3 48.78(n)
    40(a)
      186604  NM_060350.4  NP_492751.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RRP40(YOL142W)4
    RRP401
    Exosome non-catalytic core component; involved in 3'-5' more4
    RRP401
    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 AT2G25355 49.17(n)
    40(a)
      817074  NM_128093.2  NP_565592.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g06614001 Os01g0661400 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)
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    Paralogs for EXOSC3 gene
    1 SIMAP similar gene for EXOSC3 using alignment to 1 protein entry:     EXOS3_HUMAN:
    PNAS-3

    Find genes that share paralogs with EXOSC3           About GenesLikeMe


    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), 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)
    About This Section

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    Selected SNPs for EXOSC3 (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
    ----------
    rs1411389481,2,,4
    C,FPontocerebellar hypoplasia 1B (PCH1B)4 --37752033(+) CAACAT/GCAACT 4 /D /A mis12Minor allele frequency- G:0.00NA EU 5873
    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--------
    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
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606489   
    OMIM disorders: 614678  
    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

  • 2 diseases for EXOSC3:    
    About MalaCards
    pontocerebellar hypoplasia, type 1b    pontocerebellar hypoplasia


    Find genes that share disorders with EXOSC3           About GenesLikeMe

    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)
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    PubMed articles for EXOSC3 gene, integrated from 10 sources (see all 43):
    (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.M. (J. Biol. Chem. 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.-C. (Genome Res. 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. (Cell 2011)
    4. 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)
    5. RNA exosome depletion reveals transcription upstream of active human promoters. (PubMed id 19056938)1, 2 Preker P.... Jensen T.H. (Science 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. (RNA 2007)
    7. Reconstitution, activities, and structure of the eukaryotic RNA exosome. (PubMed id 17174896)1, 2 Liu Q.... Lima C.D. (Cell 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. (Genome Res. 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. (EMBO J. 2002)
    10. AU binding proteins recruit the exosome to degrade ARE-containing mRNAs. (PubMed id 11719186)1, 2 Chen C.-Y.... Karin M. (Cell 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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

    (According to HUGE)
    About This Section

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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)
    About This Section

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    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

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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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