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FLASH GENE
Symbol EHMT1 contributors: mct/npt - updated : 08-11-2016
HGNC name euchromatic histone-lysine N-methyltransferase 1
HGNC id 24650
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • eight ankyrin repeats
  • one pre-SET domain
  • one SET domain
  • conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to rattus Ehmt1 (90 pc)
    homolog to murine Ehmt1 (89.5 pc)
    Homologene
    FAMILY
  • histone-lysine methyltransferase family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome,euchromosome
    text associates with euchromatic regions
    basic FUNCTION
  • having histone methyltransferase activity with a specificity for histone H3 in core histones
  • playing a role in the central nervous system development and function through the epigenetic histone modification
  • functions as a negative regulator in both the NFKB1- and type I interferon-mediated gene induction pathways
  • EHMT1, EHMT2 have an essential role in normal morphogenesis of the atrioventricular septum through regulation of the size of the atrioventricular cushion
  • EHMT1 is an essential Brown adipose tissue (BAT)-enriched lysine methyltransferase in the PRDM16 transcriptional complex and controls brown adipose cell fate
  • is an essential enzymatic switch that controls brown adipose cell fate and energy homeostasis
  • EHMT1, EHMT2 are epigenetic regulators involved in gamma-globin repression
  • EHMT1 and EHMT2 are differentially expressed in cortical areas
  • plays a critical and cell-autonomous role in synaptic scaling by responding to attenuated neuronal firing or sensory drive
  • CELLULAR PROCESS nucleotide
    PHYSIOLOGICAL PROCESS
    text
  • chromatin regulator
  • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • EHMT2/EHMT1-associating zinc finger molecule named WIZ that can interact with EHMT2 and EHMT1 independently but is more stable in the EHMT2/EHMT1 heteromeric complexes
  • interacting with MPHOSPH8
  • catalyzes H3K9 methylation at promoters of NFKB1 target genes
  • EHMT1 controls brown adipose cell fate and thermogenesis through the PRDM16 complex
  • WIZ interact with the transcription activation domain of EHMT1
  • cell & other
    REGULATION
    Other phosphorylated upon DNA damage, probably by ATM or ATR
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL9Q34 , KLEFS1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    impaired neural network activity during the transition from uncorrelated background action potential firing to synchronized network bursting
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    bloodhemoglobin 
    novel therapeutic target for sickle cell disease (SCD)
    ANIMAL & CELL MODELS