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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
    Physical map
    CGI-127 2p23.3 yippee protein LBH 2p23.3 likely ortholog of mouse limb-bud and heart gene FLJ37965 CAPN13 2p22-p21 likely ortholog of mouse limb-bud and heart gene GALNT14 2p23.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) EHD3 2p21.1 EH-domain containing 3 LOC391361 2 similar to ribosomal protein L21 XDH 2p23-p22.2 xanthine dehydrogenase SRD5A2 2p23 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) LOC391362 2 similar to human alpha-catenin LOC339736 2p23.2 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) CGI-27 2p23.2 C21orf19-like protein LOC84661 2p23.2 dpy-30-like protein SPG4 2p22-p21 spastic paraplegia 4 (autosomal dominant; spastin) SLC30A6 2p22.3 solute carrier family 30 (zinc transporter), member 6 RH-II/GuBp1 2p22-p21 RH-II/GuB pseudogene 1 CARD12 2p22-p21 caspase recruitment domain family, member 12 MGC11061 2p23.2 hypothetical protein MGC11061 BIRC6 2p22-p21 baculoviral IAP repeat-containing 6 (apollon) FLJ20272 2p23.2-p23.1 hypothetical protein FLJ20272 LOC391363 2 similar to Latent transforming growth factor beta binding protein, isoform 1L precursor (LTBP-1) (Transforming growth factor beta-1 binding protein 1) (TGF-beta1-BP-1) LTBP1 2p22-p21 latent transforming growth factor beta binding protein 1 RASGRP3 2p25.1-p24.1 RAS guanyl releasing protein 3 (calcium and DAG-regulated) DKFZP564F0522 2p23.1 DKFZP564F0522 protein LOC391364 2 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP-1) (Topoisomerase-inhibitor suppressed) LOC151325 2p23.1 similar to hypothetical protein BC013995 LOC344371 2p23.1 similar to ADP,ATP carrier protein, fibroblast isoform (ADP/ATP translocase 2) (Adenine nucleotide translocator 2) (ANT 2)
    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)
  • 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