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FLASH GENE
Symbol BMI1 contributors: mct/pgu - updated : 06-11-2016
HGNC name BMI1 polycomb ring finger oncogene
HGNC id 1066
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --over  
in chromic lymphocytic leukemia, mantle cell lymphoma, medulloblastoma and colorectal carcinoma
tumoral     --other  
differentially expressed in non small lung cancer and correlated with INK4A locus expression
constitutional     --low  
in primary biliary cirrhosis
tumoral     --over  
in non-small-cell lung cancer (NSCLC) and other epithelial malignancies, including colorectal carcinoma and liver carcinoma
tumoral     --over  
overexpressed in gastric cancer cell lines and tumors, correlating with advanced clinical stage and lymph node metastasis
tumoral     --over  
highly expressed in HCC cell lines and in particular is highly expressed in early and well differentiated HCC, correlating with ATP-binding cassette transporter B1 expression
tumoral     --low  
clearly reduces glioma cell migration and invasion
tumoral   translocation    
t(10;14)(p12;q32)/IGH-BMI1 rearrangement in chronic lymphocytic leukemia (CLL)
tumoral       gain of function
in colorectal cancer
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
  • intestinal stem cell marker
  • marker for a subpopulation of self-renewing acinar cells in the exocrine pancreas
  • negative Bmi1 immunoexpression might serve as a marker of poor prognosis in oral tongue carcinoma patients
  • promising intracellular marker of cancer stem cells in head and neck cancer is the oncoprotein BMI1
  • Therapy target
    SystemTypeDisorderPubmed
    cancerbrain 
    attractive target for cancer therapy
    cancerbrain 
    useful indicator for glioma prognosis
    cancer  
    potent target for cancer stem cells and for the treatment of tumors
    cancerdigestivecolon
    targeting BMI1 and FSCN1 may provide potential therapeutic opportunity in colorectal cancer
    ANIMAL & CELL MODELS
  • activated by Moloney murine leukemia proviral insertion in Emu-myc transgenic mouse
  • mice bmi1 show protein transformation of the axial skeleton
  • mild up-regulation of Bmi1 expression in the adult stem cells of the skeletal muscle leads to a remarkable improvement of muscle function in a mouse model of Duchenne muscular dystrophy
  • in Bmi1-null mice, the cerebellar architecture was generally preserved, but the thickness of the granular and molecular layers was markedly reduced
  • transgenic mice overexpressed bmi show an anterior transformation of axial skeleton
  • mice Bmi1-/- have a shortened lifespan and develop numerous abnormalities including defects in stem cell self-renewal and thymocyte maturation. Also show a marked elevation in the intracellular levels of ROS