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EXOSC1 Gene

protein-coding   GIFtS: 58
GCID: GC10M099205

Exosome Component 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Exosome Component 11 2 3     Ski4p2
CSL42 3 5     CSL4 Exosomal Core Protein Homolog2
CSL4 Exosomal Core Protein Homolog (Yeast)1     Exosomal Core Protein CSL42
3'-5' Exoribonuclease CSL4 Homolog2     Exosome Complex Component CSL42
CGI-1082     hCsl4p2
Csl4p2     Homolog Of Yeast Exosomal Core Protein CSL42
SKI42     p132

External Ids:    HGNC: 172861   Entrez Gene: 510132   Ensembl: ENSG000001713117   OMIM: 6064935   UniProtKB: Q9Y3B23   

Export aliases for EXOSC1 gene to outside databases

Previous GC identifers: GC10M098856 GC10M099181 GC10M092821 GC10M099191 GC10M099192 GC10M099198


(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 EXOSC1 Gene:
This gene encodes a core component of the exosome. The mammalian exosome is required for rapid degradation of AU
rich element-containing RNAs but not for poly(A) shortening. The association of this protein with the exosome is
mediated by protein-protein interactions with ribosomal RNA-processing protein 42 and ribosomal RNA-processing
protein 46. (provided by RefSeq, Jul 2008)

GeneCards Summary for EXOSC1 Gene:
EXOSC1 (exosome component 1) is a protein-coding gene. Diseases associated with EXOSC1 include cerebellopontine angle tumor, and malaria. GO annotations related to this gene include RNA binding and exoribonuclease activity.

UniProtKB/Swiss-Prot: EXOS1_HUMAN, Q9Y3B2
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. EXOSC1 as peripheral part of the Exo-9 complex
stabilizes the hexameric ring of RNase PH-domain subunits through contacts with EXOSC6 and EXOSC8

Gene Wiki entry for EXOSC1 (Exosome component 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000010.11  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the EXOSC1 gene promoter:
         Max1   ISGF-3   USF1   Tal-1   STAT6   FOXD1   IRF-1   E47   USF-1   HSF2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEXOSC1 promoter sequence
   Search Chromatin IP Primers for EXOSC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EXOSC1


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

Entrez Gene cytogenetic band: 10q24   Ensembl cytogenetic band:  10q24.1   HGNC cytogenetic band: 10q24

EXOSC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EXOSC1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M099205:  view genomic region     (about GC identifiers)

Start:
99,195,666 bp from pter      End:
99,205,774 bp from pter
Size:
10,109 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: EXOS1_HUMAN, Q9Y3B2 (See protein sequence)
Recommended Name: Exosome complex component CSL4  
Size: 195 amino acids; 21452 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 EXOSC5, EXOSC7 and EXOSC10. Interacts with DDX60
1 PDB 3D structure from and Proteopedia for EXOSC1:
2NN6 (3D)    
Secondary accessions: B2R9B3 Q5JTH3

Explore the universe of human proteins at neXtProt for EXOSC1: NX_Q9Y3B2

Explore proteomics data for EXOSC1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys96, Lys120
  • Modification sites at PhosphoSitePlus

  • See EXOSC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_057130.1  
    ENSEMBL proteins: 
     ENSP00000359939   ENSP00000359923   ENSP00000359922   ENSP00000473660   ENSP00000473303  
     ENSP00000359921  
    Reactome Protein details: Q9Y3B2

    EXOSC1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for EXOSC1

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    Cloud-Clone Corp. ELISAs for EXOSC1
    Cloud-Clone Corp. CLIAs for EXOSC1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR025721 Exosome_cplx_N_dom
     IPR019495 EXOSC1
     IPR012340 NA-bd_OB-fold
     IPR022967 RNA-binding_domain_S1

    Graphical View of Domain Structure for InterPro Entry Q9Y3B2

    ProtoNet protein and cluster: Q9Y3B2

    1 Blocks protein domain: IPB003029 RNA binding S1

    UniProtKB/Swiss-Prot: EXOS1_HUMAN, Q9Y3B2
    Similarity: Belongs to the CSL4 family
    Similarity: Contains 1 S1 motif domain


    EXOSC1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EXOS1_HUMAN, Q9Y3B2
    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. EXOSC1 as peripheral part of the Exo-9 complex
    stabilizes the hexameric ring of RNase PH-domain subunits through contacts with EXOSC6 and EXOSC8

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding NAS11812149
    GO:0004532NOT exoribonuclease activity IDA17174896
    GO:0005515protein binding IPI11812149
         
    EXOSC1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for EXOSC1:
     Increased gamma-H2AX phosphory  Synthetic lethal with Ras 

    Animal Models:
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    Block miRNA regulation of human, mouse, rat EXOSC1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate EXOSC1:
    hsa-miR-548p
    SwitchGear 3'UTR luciferase reporter plasmidEXOSC1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): EXOSC1 (NM_001001998)
    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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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
    EXOS1_HUMAN, Q9Y3B2: Nucleus, nucleolus. Nucleus (Probable). Cytoplasm (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000178exosome (RNase complex) NAS11812149
    GO:0005634nucleus IDA--
    GO:0005730nucleolus IDA11812149
    GO:0005829cytosol TAS--

    EXOSC1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for EXOSC1 About   (see all 7)  
    See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for EXOSC1
        ATP/ITP metabolism

    5 Reactome Pathways for EXOSC1
        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 EXOSC1):
        RNA degradation


    EXOSC1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EXOSC1
    Interactions:

        Search GeneGlobe Interaction Network for EXOSC1

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

    Selected Interacting proteins for EXOSC1 (Q9Y3B21, 2, 3 ENSP000003599394) via UniProtKB, MINT, STRING, and/or I2D (see all 155)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EXOSC7Q150241, 2, 3, ENSP000002655644EBI-371892,EBI-371841 MINT-7993644 MINT-7993893 MINT-7993837 MINT-7988296 MINT-7993717 I2D: score=4 STRING: ENSP00000265564
    EXOSC5Q9NQT41, 2, 3, ENSP000002212334EBI-371892,EBI-371876 MINT-7993644 MINT-7993837 MINT-7988296 MINT-7993717 I2D: score=4 STRING: ENSP00000221233
    EXOSC6Q5RKV62, 3, ENSP000003985974MINT-7993644 MINT-7993837 MINT-7988296 I2D: score=2 STRING: ENSP00000398597
    EXOSC4Q9NPD31, 2, 3, ENSP000003154764EBI-371892,EBI-371823 MINT-7993644 MINT-7993893 MINT-7993837 MINT-7988296 MINT-7993717 I2D: score=4 STRING: ENSP00000315476
    EXOSC8Q96B262, 3, ENSP000003743544MINT-7993644 MINT-7993893 MINT-7993837 MINT-7988296 MINT-7993717 I2D: score=2 STRING: ENSP00000374354
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    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--

    EXOSC1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for EXOSC1 (EXOS1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for EXOSC1 gene: 
    NM_016046.3  

    Unigene Cluster for EXOSC1:

    Exosome component 1
    Hs.632089  [show with all ESTs]
    Unigene Representative Sequence: NM_016046
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370902 ENST00000370886 ENST00000370885 ENST00000485122 ENST00000477692
    ENST00000370884 ENST00000471049 ENST00000472345 ENST00000476234 ENST00000489158
    ENST00000474309
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    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat EXOSC1
      QuantiFast Probe-based Assays in human, mouse, rat EXOSC1

    Additional mRNA sequence: 

    AK307229.1 AK313717.1 BC022067.2 

    15 DOTS entries:

    DT.121278602  DT.101964329  DT.100808920  DT.97795707  DT.91996287  DT.448289  DT.121278615  DT.91842967 
    DT.100025680  DT.92427221  DT.95271262  DT.92427225  DT.95271263  DT.95271264  DT.92427222 

    Selected AceView cDNA sequences (see all 183):

    BM789070 AA832353 AA074499 BU623719 AI097008 AA412306 BC022067 BM768918 
    BU688893 CB158588 BQ027060 CD675940 AI129539 BM664035 BX108906 BM989242 
    AA889264 AI217052 CB162412 CB157774 BM692452 BM818369 CA432265 BU684374 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for EXOSC1 (see all 7)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c
    SP1:        -           -                 -           -                                             
    SP2:        -           -                 -     -     -                                             
    SP3:                                      -                                                         
    SP4:                    -                 -                                                         
    SP5:        -           -                                                                           


    ECgene alternative splicing isoforms for EXOSC1

    (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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    EXOSC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTCTGTGAA
    EXOSC1 Expression
    About this image

    EXOSC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EXOSC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.632089
        Custom PCR Arrays for EXOSC1
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    QuantiFast Probe-based Assays in human, mouse, rat EXOSC1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EXOSC1

    (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 EXOSC1 gene from Selected species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Exosc11 , 5 exosome component 11, 5 89.74(n)1
    95.9(a)1
      19 (35.46 cM)5
    665831  NM_025644.41  NP_079920.11 
     419229805 
    chicken
    (Gallus gallus)
    Aves EXOSC16
    exosome component 1
    87(a)
    1 ↔ 1
    6(21891716-21893038)
    lizard
    (Anolis carolinensis)
    Reptilia EXOSC16
    exosome component 1
    84(a)
    1 ↔ 1
    GL343810.1(85040-89786)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480152782   -- 70.67(n)    48015278 
    zebrafish
    (Danio rerio)
    Actinopterygii exosc11 exosome component 1 69.98(n)
    80.63(a)
      558857  NM_001145567.1  NP_001139039.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Csl41 Csl4 54.03(n)
    50(a)
      34548  NM_135648.1  NP_609492.1 
    worm
    (Caenorhabditis elegans)
    Secernentea exos-11 exos-1 45.81(n)
    34.64(a)
      176532  NM_067015.4  NP_499416.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CSL4(YNL232W)4
    CSL41
    Exosome non-catalytic core component; involved in 3'-5' more4
    CSL41
    52.03(n)1
    47.15(a)1
      14(214923-215801)4
    8554891, 4  NP_014167.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G388901 AT5G38890 52.62(n)
    45.51(a)
      833880  NM_123250.3  NP_568559.2 
    rice
    (Oryza sativa)
    Liliopsida Os02g08158001 Os02g0815800 55.15(n)
    50.74(a)
      4331133  NM_001055041.1  NP_001048506.1 


    ENSEMBL Gene Tree for EXOSC1 (if available)
    TreeFam Gene Tree for EXOSC1 (if available)

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

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    (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 EXOSC1 (see all 206)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs773098681,2
    C--99195200(+) ACTTAC/TGCCTT 1 -- ds50014Minor allele frequency- T:0.05CSA WA NA EA 360
    rs1907025661,2
    --99195295(+) TCTCAC/TGTCAC 1 -- ds50010--------
    rs1825351891,2
    --99195382(+) CCACTA/GTATCA 1 -- ds50010--------
    rs1392092851,2
    --99195443(+) GACAGA/GGTCTC 1 -- ds50010--------
    rs1871906681,2
    --99195575(+) ACCACA/GCCCGG 1 -- ds50010--------
    rs1904425071,2
    --99195579(+) CGCCCA/GGCTAA 1 -- ds50010--------
    rs1138865361,2
    C--99195732(+) ACCACAT/-GTGTC 1 -- ut311Minor allele frequency- -:0.50CSA 2
    rs10628931,2
    C--99195989(-) ACAAAC/AAAAAC 1 -- ut312Minor allele frequency- A:0.00MN NA 186
    rs1399251031,2
    C--99196106(+) TGGCT-/GGTTGG 1 -- ut310--------
    rs1424451711,2
    C--99196117(+) CCGACA/GCCAGG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for EXOSC1 (99195666 - 99205774 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for EXOSC1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv467440CNV Loss19166990

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EXOSC1
    DNA2.0 Custom Variant and Variant Library Synthesis for EXOSC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606493    OMIM disorders: --

    4 diseases for EXOSC1:    
    About MalaCards
    cerebellopontine angle tumor    malaria    alzheimer's disease    hiv-1


    EXOSC1 for disorders           About GeneDecksing


    Export disorders for EXOSC1 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 EXOSC1 gene, integrated from 10 sources (see all 37):
    (articles sorted by number of sources associating them with EXOSC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Protein-protein interactions of hCsl4p with other human exosome subunits. (PubMed id 11812149)1, 2, 3, 9 Raijmakers R.... Pruijn G.J.M. (J. Mol. Biol. 2002)
    2. AU binding proteins recruit the exosome to degrade ARE-containing mRNAs. (PubMed id 11719186)1, 2, 3 Chen C.-Y.... Karin M. (Cell 2001)
    3. 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)
    4. Reconstitution, activities, and structure of the eukaryotic RNA exosome. (PubMed id 17174896)1, 2 Liu Q.... Lima C.D. (Cell 2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. A protein interaction framework for human mRNA degradation. (PubMed id 15231747)1, 2 Lehner B. and Sanderson C.M. (Genome Res. 2004)
    7. 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)
    8. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (Nature 2004)
    9. 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 Raijmakers R.... Pruijn G.J.M. (J. Mol. Biol. 2002)
    10. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2 Lai C.-H.... Lin W.-C. (Genome Res. 2000)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 51013 HGNC: 17286 AceView: EXOSC1 Ensembl:ENSG00000171311 euGenes: HUgn51013
    ECgene: EXOSC1 Kegg: 51013 H-InvDB: EXOSC1

    (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 EXOSC1 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 EXOSC1 gene:
    Search GeneIP for patents involving EXOSC1

    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, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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