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FLASH GENE
Symbol EXOSC9 contributors: mct - updated : 16-09-2015
HGNC name exosome component 9
HGNC id 9137
DNA
TYPE functioning gene
STRUCTURE 15.73 kb     13 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 - 1644 - 456 - 2003 12788944
12 - 1593 - 439 - 2003 12788944
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • putative nuclear localization signal in the C-terminal region of sufficient, although not essential for nuclear localization of the protein, playing a role in targeting the exosome to the nucleolus
  • HOMOLOGY
    Homologene
    FAMILY RNAse PH family
    CATEGORY RNA associated , antigen
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleolus
    text
  • SETX and EXOSC9 co-localize in nuclear foci that constitute sites of R-loop formation generated by transcription and replication machinery collisions
  • basic FUNCTION
  • required for the 3'processing of the 7s pre-RNA to the mature 5.8s rRNA
  • although not required for exosome stability, EXOSC10 and EXOSC9 are involved in mRNA degradation, either as essential subunits of a functional exosome complex or as exosome-independent proteins
  • promotes self-renewal and prevents premature differentiation by maintaining transcript levels of a transcription factor necessary for epidermal differentiation, GRHL3, at low levels through mRNA degradation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • key subunit of the exosome complex, resulted in loss of cells from the progenitor cell compartment, premature differentiation, and loss of epidermal tissue
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interact specifically with AU-rich instability elements (AREs), suggesting that the interaction between the exosome and AREs plays a key role in regulating the efficiency of ARE-containing mRNA turnover
  • is a core component of the exosome, a SETX-interacting protein and this interaction depends on modification of SETX by sumoylation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CASMN
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS