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FLASH GENE
Symbol BIRC6 contributors: mct/npt - updated : 28-04-2015
HGNC name baculoviral IAP repeat-containing 6 (apollon)
HGNC id 13516
Location 2p22.3      Physical location : 32.582.095 - 32.843.963
Synonym name
  • BIR repeat containing ubiquitin-conjugating enzyme
  • mouse ubiquitin conjugating enzyme
  • Synonym symbol(s) BRUCE, KIAA1289, APOLLON, FLJ13726, FLJ13786
    DNA
    TYPE functioning gene
    STRUCTURE 261.87 kb     74 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    74 - 15718 - 4857 - 2008 18329369
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   highly
    Reproductivefemale systembreastmammary gland highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    cell lineage
    cell lines brain and ovary cancer cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal baculovirus IAP repeat (BIR domain)
  • ubiquitin-conjugating enzyme (UBC) domain at the carboxy terminus
  • HOMOLOGY
    interspecies homolog to murine Bruce
    Homologene
    FAMILY
  • baculovirus IAP related family
  • CATEGORY regulatory , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    text filamentous pattern through cytoplasm
    basic FUNCTION
  • playing a role in tumorigenesis (brain cancer) and drug resistance of the SNB-78 cell linee at least
  • multifunctional protein, which processes ubiquitin-conjugating activity, as a major regulator of abscission
  • coordinates multiple steps required for abscission and ubiquitylation may be a crucial trigger
  • antagonizes both the precursor and mature forms of Smac and caspase-9
  • having has an essential function in preventing DIABLO-induced apoptosis
  • is a target for glucocorticoid hormones (GHs) in the neural progenitor cells (NPCs), and controls cell division of NPCs and possibly of other stem cells
  • BIRC6 and USP8 are two hitherto uncharacterized critical DNA damage response (DDR) regulators
  • CELLULAR PROCESS cell life, antiapoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds to, ubiquitinates and facilitates proteasomal degradation of SMAC and caspase-9, which both contain IAP-binding motifs
  • may have a potential oncogenic role in neuroblastoma by inactivating cytoplasmic DIABLO
  • is potentially a novel regulator of mitotic CCCNA2 degradation independent of spindle assembly checkpoint (SAC)
  • expression of BIRC6 is upregulated by MTRNR2L1, and BIRC6 could be an effector of MTRNR2L1 in a context-dependent manner
  • acts as a scaffold, bridging the ubiquitin-specific peptidase 8 (USP8) and MCPH1 in a complex to coordinate USP8-catalyzed deubiquitination of MCPH1
  • regulates DNA double-strand break response by promoting USP8 deubiquitination of MCPH1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in castration-resistant prostate cancer (CRPC)
    tumoral     --over  
    associated with unfavorable clinical features and negatively impacts relapse-free survival in childhood acute myeloid leukemia (AML)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductiveprostate
    BIRC6-based dual IAP-targeting ASOs represent potential novel therapeutic agents against advanced prostate cancer
    cancerbrainglioma/neuroblstoma
    BIRC6 inhibition may therefore provide a means for therapeutic intervention in neuroblastoma
    ANIMAL & CELL MODELS
  • Birc6-mutant mice exhibit repair defects and genomic instability