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FLASH GENE
Symbol MLLT1 contributors: mct/npt - updated : 26-03-2014
HGNC name myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1
HGNC id 7134
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
12 - 4530 - 559 - Meyer (2007)
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivefemale systembreastmammary gland  
 female systemovary   
Respiratoryrespiratory tractlarynx   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • serine/proline rich nuclear protein
  • C-terminal domain from MLLT1 is required for optimal interaction with DOT1L
  • HOMOLOGY
    intraspecies homolog to mllt3
    Homologene
    FAMILY
    CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • activating transcription in lymphoid and myeloid cells
  • involved in essential developmental processes and suggest that expression patterns of MLL fusion partners may influence the lineage of MLL-associated leukemias (Doty 2002)
  • may have a function in histone modification and transcriptional elongation (Mueller 2007)
  • MLLT1 protein isoforms display distinct stage-specific expression during spermiogenesis and adult tissues
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    text transcription activating factor
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to c-Abl interactor protein (SSH3BP1) with CBX8
  • the entire C-terminal domain from MLLT1 is required for optimal interaction with DOT1L, which is consistent with the reports that helical segments are essential for the transformation potential of MLL-MLLT1 fusion protein
  • 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   translocation    
    translocation (t(11;19)(q23;p13.3) are associated with de novo acute leukemia as well as therapy-related acute leukemia (Lee 2010)
    tumoral   translocation    
    three-way translocation of t(2;19;11)(p12;p13.3;q23) in a patient with acute lymphoblastic leukemia (ALL)(Lee 2010)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    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