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FLASH GENE
Symbol KMT2E contributors: mct - updated : 25-01-2014
HGNC name lysine (K)-specific methyltransferase 2E
HGNC id 18541
Location 7q22.3      Physical location : -
Synonym name
  • myeloid/lymphoid or mixed-lineage leukemia protein 5
  • MLL5 protein
  • myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)
  • Synonym symbol(s) FLJ10078, FLJ14026, HDCMC04P, PMCB, MGC70452, MLL5
    EC.number 2.1.1.43
    DNA
    TYPE functioning gene
    STRUCTURE 99.90 kb     27 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - [D7S1503 - LRRC17 - SVH - NAPE-PLD - PMPCB - D7S2509 - ZRF1 - PSMC2 - SLC26A5 - RELN - D7S658 - ORC5L - D7S2446 - LHFPL3 - D7S2545 - MLL5 - SRPK2 - D7S1841 ] - qter
    Authors Curtiss (05)
    Text see TSG7B , [deleted in in myeloid leukemia]
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    27 - 6873 205 1858 - Deng
    26 - 6725 205 1858 - Deng
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvesselsaorta   
    Digestivestomach   highly
    Hearing/Equilibriumearinnercochlea highly
    Nervousbrain    
    Reproductivemale systemprostate   
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a PHD finger domain, a protein module that is often involved in binding to the N-terminus of histone H3, that may potentially guide the spreading or further methylation of this site on chromatin
  • a SET domain
  • conjugated MetalloP
    HOMOLOGY
    interspecies homolog to murine Mll5
    Homologene
    FAMILY Trithorax (TRX) family member
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    basic FUNCTION
  • involved in chromatin organization and chromatin-mediated transcriptional regulation by protein association
  • Trx-G gene that might modulate transcription by protein association
  • plays an integral role in novel chromatin regulatory mechanisms that suppress inappropriate expression of S-phase-promoting genes and maintain expression of determination genes in quiescent cells (Sebastian 2009)
  • histone methyltransferase that plays a key role in hematopoiesis, spermatogenesis and cell cycle progression
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • is a novel cellular target of CDK1, and the phosphorylation of KMT2E may have an indispensable role in the mitotic progression
  • SNTA1 associates with KMT2E, a regulator of MYOG expression
  • novel component in the regulation of TP53 homeostasis
  • central domain of KMT2E interacted with the C-terminus of CDCA8, and the interaction is essential to maintain the stability of CDCA8
  • can associate with the cell cycle regulator "host cell factor" (HCFC1), and regulates cell cycle progression and E2F1-responsive gene expression
  • recruited to gene-rich euchromatic regions via the interaction of its PHD with the histone mark H3K4me3
  • cell & other
    REGULATION
    induced by induced in quiescent myoblasts and regulates both the cell cycle and differentiation via a hierarchy of chromatin and transcriptional regulators (Sebastian 2009)
    Phosphorylated by CDK1, and this phosphorylation is required for mitotic entry
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS