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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
Location 9p21.3      Physical location : 20.344.967 - 20.622.514
Synonym name
  • AF-9 protein
  • ALL1-fused gene from chromosome 9 protein
  • YEATS domain-containing protein 3
  • myeloid/lymphoid or mixed-lineage leukemia translocated to chromosome 3 protein
  • Synonym symbol(s) AF9, LTG9, FLJ2035, YEATS3
    DNA
    TYPE functioning gene
    STRUCTURE 280.88 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence scaffold attachement regions/matrix attachement regions
    text structure SAR/MAR, two SARs at the border of AF9 BCR
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC392288 9 similar to microtubule-associated proteins 1A/1B light chain 3 SLC24A2 9p22-p13 solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 LOC389706 9 LOC389706 SMNP 9 LOC389706 MLLT3 9p22 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 KIAA1797 9p21 KIAA1797 IFNB1 9p22 interferon, beta 1, fibroblast IFNW1 9p22 interferon, omega 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 6787 63.2 568 - 2000 1086129
    11 - 6703 - 565 - 2000 1086129
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainforebraincerebral lobefrontal 
    Reproductivefemale systemovary  highly
    Respiratoryrespiratory tractlarynx  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelial    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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