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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	BMI1&
	8726;CXXC4 axis is a potential novel diagnostic target of colon cancer
Therapy target
	System Type Disorder Pubmed cancer brain   attractive target for cancer therapy cancer brain   useful indicator for glioma prognosis cancer     potent target for cancer stem cells and for the treatment of tumors cancer digestive colon targeting BMI1 and FSCN1 may provide potential therapeutic opportunity in colorectal cancer cancer digestive colon BMI1∖CXXC4 axis is a potential novel therapeutic target of colon 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