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FLASH GENE
Symbol CBFB contributors: mct - updated : 08-02-2018
HGNC name core-binding factor, beta subunit
HGNC id 1539
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two distinct domains, a newly defined regulatory domain that interacts with filamin A
  • the previously identified RUNX1-binding domain
    • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Cbfb
    Homologene
    FAMILY CBF beta family
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,chromatin/chromosome
    text Filamin A retains CBFB in the cytoplasm, thereby hindering its engagement as a RUNX1 partner
    basic FUNCTION
  • master regulator for a host of genes specific to hematopoiesis (RUNX1) or osteogenesis (RUNX2)
  • required for hematopoietic stem cells emergence, bone formation and normal differentiation of lymphoid and myeloid lineage cells
  • involved in the regulation of the G1-checkpoint at the cyclin-dependent kinase inhibitor CDKN1A
  • CBFB and RUNX1 are critical for the establishment of definitive hematopoiesis and are implicated in leukemic transformation
  • Runx proteins and CBFB restrict granulocyte lineage commitment to facilitate multilineage hematopoietic differentiation and thus identify their novel tumor suppressor function in myeloid leukemia
    • CELLULAR PROCESS nucleotide, transcription
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    text hematopoiesis, osteogenesis
    PATHWAY
    metabolism
    signaling
    a component
  • protein forming heterodimers with AML1 proteins (AML1, AML1B, AML2, AML3) and increasing their affinity for DNA (core) recognition sequence
  • dimerizing with either of the CBF alpha subunits
  • heterodimerizing with RUNX2 for osteoblasts and chondrocytes differentiation (heterodimeric transcription factor PEBP2/CBF is composed of a DNA-binding subunit, RUNX1, and a non-DNA-binding subunit, CBFB)
    • INTERACTION
    DNA binding to the core site of various enhancers and promoters,including T cell receptor gene enhancers,TRIM10, etc...
    RNA
    small molecule
    protein
  • interacting with FLNA
  • binding to ELOB/ELOC induces conformational changes in HIV1 Vif, facilitating its interaction with CBFB and consequent interaction with CUL5
  • RUNX2/CBFB regulates the proliferation and differentiation of chondrocytes and osteoblast-lineage cells by activating multiple signaling pathways and via their reciprocal regulation
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AMLM4EO
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       protein chimeric
    chimeric fusion protein with MYH11 in acute myeloid leukemia with good prognosis
    constitutional     --over  
    in DMD with milder phenotype
    tumoral   inversion    
    in acute myeloid leukemia (AML-M4Eo) with inversion inv(16)(p13;q22) or t(16;16)(p13;q22)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS