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

EXOSC5 Gene

protein-coding   GIFtS: 62
GCID: GC19M041892

Exosome Component 5

  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 51 2 3     RRP41B2
Exosome Component Rrp461 2     Rrp46p2
Chronic Myelogenous Leukemia Tumor Antigen 282 3     Exosome Complex Component RRP462
Ribosomal RNA-Processing Protein 462 3     Exosome Complex Exonuclease RRP462
RRP462 3     hRrp46p2
p12B2 3     CML283

External Ids:    HGNC: 246621   Entrez Gene: 569152   Ensembl: ENSG000000773487   OMIM: 6064925   UniProtKB: Q9NQT43   

Export aliases for EXOSC5 gene to outside databases

Previous GC identifers: GC19M046585 GC19M046586 GC19M038324


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

GeneCards Summary for EXOSC5 Gene: 
EXOSC5 (exosome component 5) is a protein-coding gene. Diseases associated with EXOSC5 include cat-scratch disease, and polymyositis, 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: EXOS5_HUMAN, Q9NQT4
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 EXOSC5 (Exosome component 5) 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_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EXOSC5 gene promoter:
         GR   NF-1   USF1   AP-1   GR-beta   USF2   USF-1:USF-2   E47   USF-1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEXOSC5 promoter sequence
   Search SABiosciences Chromatin IP Primers for EXOSC5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EXOSC5


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

Entrez Gene cytogenetic band: 19q13.1   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.1

EXOSC5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EXOSC5 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M041892:  view genomic region     (about GC identifiers)

Start:
41,892,275 bp from pter      End:
41,903,384 bp from pter
Size:
11,110 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: EXOS5_HUMAN, Q9NQT4 (See protein sequence)
Recommended Name: Exosome complex component RRP46  
Size: 235 amino acids; 25249 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 EXOSC1. Interacts with GTPBP1. Interacts with ZC3HAV1. Interacts with DDX17 only in the presence of ZC3HAV1
in an RNA-independent manner
Subcellular location: Nucleus, nucleolus. Cytoplasm (Probable). Nucleus (Probable)
Caution: The six exosome core subunits containing a RNase PH-domain are not phosphorolytically active
Sequence caution: Sequence=AAM75154.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for EXOSC5:
2NN6 (3D)    
Secondary accessions: Q32Q81 Q8NG16 Q96I89

Explore the universe of human proteins at neXtProt for EXOSC5: NX_Q9NQT4

Explore proteomics data for EXOSC5 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NQT4

  • EXOSC5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EXOSC5 Protein Expression
    REFSEQ proteins: NP_064543.3  
    ENSEMBL proteins: 
     ENSP00000221233   ENSP00000472396   ENSP00000471002   ENSP00000471557  
    Reactome Protein details: Q9NQT4
    Human Recombinant Protein Products for EXOSC5: 
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    Novus Biologicals EXOSC5 Proteins
    Novus Biologicals EXOSC5 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for EXOSC5
    Cloud-Clone Corp. Proteins for EXOSC5 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000178exosome (RNase complex) IDA--
    GO:0005730nucleolus NAS11110791
    GO:0005737cytoplasm NAS11110791
    GO:0005829cytosol TAS--
    GO:0035327transcriptionally active chromatin IMP--

    EXOSC5 for ontologies           About GeneDecksing



    EXOSC5 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for EXOSC5 
    Cloud-Clone Corp. CLIAs for EXOSC5


    (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 Q9NQT4

    ProtoNet protein and cluster: Q9NQT4

    UniProtKB/Swiss-Prot: EXOS5_HUMAN, Q9NQT4
    Similarity: Belongs to the RNase PH family


    EXOSC5 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: EXOS5_HUMAN, Q9NQT4
    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): 4 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:0004532NOT exoribonuclease activity IDA17174896
    GO:0005515protein binding IPI11812149
         
    EXOSC5 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for EXOSC5:
     Decreased Tat-dependent transc  Decreased p24 protein expressi 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for EXOSC5 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EXOSC5 
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    Inhib. RNA
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    (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 EXOSC5 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 EXOSC5
        ATP/ITP metabolism


    1 GeneGo (Thomson Reuters) Pathway for EXOSC5
        ATP/ITP metabolism

    5/9        Reactome Pathways for EXOSC5 (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 EXOSC5):
        RNA degradation


    EXOSC5 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for EXOSC5

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

    5/70 Interacting proteins for EXOSC5 (Q9NQT41, 2, 3 ENSP000002212334) via UniProtKB, MINT, STRING, and/or I2D (see all 70)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EXOSC1Q9Y3B21, 2, 3, ENSP000003599394EBI-371876,EBI-371892 MINT-7993644 MINT-7993837 MINT-7988296 MINT-7993717 I2D: score=4 STRING: ENSP00000359939
    EXOSC7Q150242, 3, ENSP000002655644MINT-7993644 MINT-7993837 MINT-7988296 MINT-7993717 I2D: score=1 STRING: ENSP00000265564
    EXOSC9Q062652, 3, ENSP000003689844MINT-7993644 MINT-7993837 MINT-7988296 MINT-7993717 I2D: score=1 STRING: ENSP00000368984
    EXOSC6Q5RKV62, 3, ENSP000003985974MINT-7993644 MINT-7993837 MINT-7988296 I2D: score=1 STRING: ENSP00000398597
    EXOSC8Q96B261, 2, 3, ENSP000003743544EBI-371876,EBI-371922 MINT-7993644 MINT-7993837 MINT-7988296 MINT-7993717 I2D: score=4 STRING: ENSP00000374354
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000288nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay TAS--
    GO:0006364rRNA processing NAS11110791
    GO:0006401RNA catabolic process ----
    GO:0010467gene expression TAS--
    GO:0016070RNA metabolic process TAS--

    EXOSC5 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 EXOSC5 (EXOS5)

    Search CenterWatch for drugs/clinical trials and news about EXOSC5 / EXOS5

    (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 EXOSC5 gene: 
    NM_020158.3  

    Unigene Cluster for EXOSC5:

    Exosome component 5
    Hs.283741  [show with all ESTs]
    Unigene Representative Sequence: BM450105
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000221233(uc002oqo.3) ENST00000602129 ENST00000596905 ENST00000593523
    ENST00000593771
    miRNA
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    Additional mRNA sequence: 

    AF281134.1 AF285785.1 AK314941.1 BC007742.2 BC107696.1 

    17 DOTS entries:

    DT.446730  DT.100697122  DT.100787486  DT.121460932  DT.100787480  DT.100787485  DT.100787479  DT.121461048 
    DT.121460787  DT.100711453  DT.100787483  DT.121460801  DT.121460897  DT.121461144  DT.40113849  DT.95237655 
    DT.99997857 

    24/223 AceView cDNA sequences (see all 223):

    CR621752 CA945111 NM_020158 BU625964 AI887020 AI214223 AI962516 AI078748 
    BE274354 BM704499 AA448983 AI359994 BG396350 BX462406 BM671643 CR592651 
    BM970375 BQ101103 BX333742 CA444881 BG826804 AI587094 AI554713 AF281134 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for EXOSC5    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b
    SP1:                                      -                                       
    SP2:                          -           -                                       
    SP3:                                -     -     -                                 
    SP4:                                                                              


    ECgene alternative splicing isoforms for EXOSC5

    (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

    EXOSC5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCTCCTTGA
    EXOSC5 Expression
    About this image


    See EXOSC5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EXOSC5

    SOURCE GeneReport for Unigene cluster: Hs.283741

    UniProtKB/Swiss-Prot: EXOS5_HUMAN, Q9NQT4
    Tissue specificity: Highly expressed in a variety of hematopoietic and epithelial tumor cell lines, but not in
    normal hematopoietic tissues or other normal tissue, with the exception of testis

        SABiosciences Custom PCR Arrays for EXOSC5
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EXOSC5
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EXOSC5

    (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 EXOSC5 gene from 10/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Exosc51 , 5 exosome component 51, 5 84.68(n)1
    89.36(a)1
      7 (13.96 cM)5
    279981  NM_138586.31  NP_613052.11 
     256591535 
    chicken
    (Gallus gallus)
    Aves LOC1008589311 exosome complex component RRP46-like 72.73(n)
    74.55(a)
      100858931  XM_003643465.1  XP_003643513.1 
    lizard
    (Anolis carolinensis)
    Reptilia EXOSC56
    Uncharacterized protein
    64(a)
    1 ↔ 1
    LGf(3933928-3960911)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.93952 Xenopus laevis transcribed sequence with moderate similarity more 73.67(n)    CF286959.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.177082 Transcribed sequence with weak similarity to protein more 70.41(n)    BM860267.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rrp461 CG4043-PA 46.96(n)
    38.46(a)
      41270  NM_141744.2  NP_650001.2 
    worm
    (Caenorhabditis elegans)
    Secernentea crn-51 Protein CRN-5 42.04(n)
    31.53(a)
      174634  NM_063883.2  NP_496284.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RRP46(YGR095C)4
    RRP461
    Exosome non-catalytic core component; involved in 3'-5' more4
    Rrp46p1
    41.33(n)1
    30(a)1
      7(676342-675671)4
    8529871, 4  NP_011609.21, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G462101 exosome complex component RRP46 48.56(n)
    43.75(a)
      823766  NM_001035740.2  NP_001030817.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g08542001 hypothetical protein 49.35(n)
    38.73(a)
      4334824  NM_001058471.1  NP_001051936.1 


    ENSEMBL Gene Tree for EXOSC5 (if available)
    TreeFam Gene Tree for EXOSC5 (if available)

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

    (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

    10/239 SNPs in EXOSC5 are shown (see all 239)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0518684
    ----see VAR_0518682 C W mis40--------
    VAR_0307884
    ----see VAR_0307882 T M mis40--------
    rs1495295001,2
    --41891816(+) GAAAAC/GAAAAC 1 -- int10--------
    rs81035311,2
    C,F,A--41891974(+) TAGCTC/TGCTGG 1 -- int110Minor allele frequency- T:0.47NA WA CSA EA 372
    rs104085491,2
    C,F,H--41892110(+) TGATGC/TCTGAT 1 -- int17Minor allele frequency- T:0.05NS NA WA 910
    rs1887173061,2
    --41892253(+) CTGCAC/TACGAT 1 -- int10--------
    rs38267131,2
    C,F,A,H--41892269(-) TGTCTG/ATTGAG 1 -- int114Minor allele frequency- A:0.49NA WA CSA EA 491
    rs667639501,2
    C--41892347(+) TTGCT-/GGGGGG 1 -- ut310--------
    rs1441750571,2
    C--41892505(+) GTGGAC/GGCAAT 1 -- ut310--------
    rs1486609191,2
    C--41892516(+) GGGAGC/TGGCCC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for EXOSC5 (41892275 - 41903384 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for EXOSC5:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv828551CNV Gain20364138

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing EXOSC5
    DNA2.0 Custom Variant and Variant Library Synthesis for EXOSC5

    (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: 606492    OMIM disorders: --

    3 diseases for EXOSC5:    About MalaCards
    cat-scratch disease    polymyositis    leukemia

    1 disease from the University of Copenhagen DISEASES database for EXOSC5:
    cat-scratch disease

    EXOSC5 for disorders           About GeneDecksing

    Genetic Association Database (GAD): EXOSC5
    Human Genome Epidemiology (HuGE) Navigator: EXOSC5 (1 document)

    Export disorders for EXOSC5 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 EXOSC5 gene, integrated from 9 sources (see all 42):
    (articles sorted by number of sources associating them with EXOSC5)
        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. (2002)
    2. Three novel components of the human exosome. (PubMed id 11110791)1, 2, 3 Brouwer R....Pruijn G.J. (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. The zinc-finger antiviral protein recruits the RNA pr ocessing exosome to degrade the target mRNA. (PubMed id 17185417)1, 2 Guo X....Gao G. (2007)
    6. Reconstitution, activities, and structure of the eukaryotic RNA exosome. (PubMed id 17174896)1, 2 Liu Q.... Lima C.D. (2006)
    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. (2004)
    8. The mammalian exosome mediates the efficient degradation of mRNAs that contain AU-rich elements. (PubMed id 11782436)1, 2 Mukherjee D....Wilusz J. (2002)
    9. CML28 is a broadly immunogenic antigen, which is overexpressed in tumor cells. (PubMed id 12359762)1, 2 Yang X.-F.... Ritz 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: 56915 HGNC: 24662 AceView: EXOSC5 Ensembl:ENSG00000077348 euGenes: HUgn56915
    ECgene: EXOSC5 Kegg: 56915 H-InvDB: EXOSC5

    (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 EXOSC5 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 EXOSC5 gene:
    Search GeneIP for patents involving EXOSC5

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



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    About This Section

     
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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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