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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
Corresponding disease
DEL9Q34 chromosome 9q subtelomere deletion syndrome
Location 9q34.3      Physical location : 140.513.443 - 140.730.576
Synonym name
  • H3-K9HMTase, histone H3 lysine 9 methyl transferase
  • G9a-like protein 1
  • histone-lysine N-methyltransferase, H3 lysine-9 specific 5
  • H3-K9-HMTase 5
  • Synonym symbol(s) FLJ12879, KIAA1876, EUHMTASE1, GLP, KMT1D, FP13812, Eu-HMTase1, bA188C12.1, DKFZp667M072, RP11-188C12.1
    EC.number 2.1.1.43
    DNA
    TYPE functioning gene
    STRUCTURE 125.16 kb     26 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    26 - 5123 - 1298 - 2005 15805155
  • initiation ATG occuring in exon 2
  • 15 - 2724 - 808 - 2005 15805155
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon  
     salivary gland   moderately
     stomach   moderately
    Endocrineparathyroid   moderately
    Lymphoid/Immunelymph node   highly
     thymus    
     tonsils   highly
    Reproductivemale systemtestis   
    Respiratorylung   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  moderately
    Muscular   moderately
    Nervousperipherous   
    cell lineage
    cell lines
    fluid/secretion highly in lymph
    at STAGE
    physiological period fetal
    Text pancreas, developing nervous system
    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