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FLASH GENE
Symbol MLLT3 contributors: mct/ - updated : 06-06-2014
HGNC name myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3
HGNC id 7136
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • serine/proline rich nuclear protein
  • nuclear targeting sequence
  • YEATS domain
    • HOMOLOGY
    interspecies homolog to Drosophila trithorax
    homolog to C.elegans t09d3.3
    intraspecies homolog to MLLT1
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • involved in cell growth and in maintenance, and in oncogenesis
  • required in the elaboration of the erythroid and megakaryocytic lineages (Pina 2008)
  • regulator of early erythroid and megakaryocytic cell fate in the human system (Pina 2008)
  • strongly augments the ANKRD6-driven activation of JUN-terminal kinase (JNK)-dependent gene expression in the nucleus, and this augmentation largely depends on the presence of nuclear ANKRD6
    • CELLULAR PROCESS cell life
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ANKRD6 in the nucleus, interacts with the transcription factor MLLT3
  • ANKRD6, and MLLT3 block canonical WNT signaling; however, this occurs independently of each other, and does not require nuclear ANKRD6
  • direct interaction between MLLT3/MLLT1 and DOT1L and for optimal interaction an intact C-terminal domain in MLL fusion proteins is critical
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    with HRX (MLL), in acute myeloid/lymphoid, in monoblastic leukemia with granulocytic sarcomas mixed-lineage leukemia and translocation t(9;11)(p22;q23)
    tumoral   translocation    
    in acute myeloid/lymphoid, monoblastic leukemia
    tumoral   translocation    
    involves MLL, MLLT3, and CCDC94, in the pathogenesis of acute myeloid leukemia with t(9;11;19)(p22;q23;p13.3)
    Susceptibility
    Variant & Polymorphism
    Candidate gene candidate regulator of erythroid/megakaryocytic (E/Meg) lineage decisions (Pina 2008)
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerhemopathy 
    disruption of interaction between DOT1L and MLLT3/MLLT1 is a promising therapeutic strategy with potentially fewer adverse effects than enzymatic inhibition of DOT1L for KMT2A fusion protein-associated leukemia
    ANIMAL & CELL MODELS