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Description for Protein EHMT1

euchromatic histone-lysine N-methyltransferase 1
6 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The protein encoded by this gene is a histone methyltransferase that is part of the E2F6 complex, which represses transcription. The encoded protein methylates the Lys-9 position of histone H3, which tags it for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SET: SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  • ANK: ankyrin repeats
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    2.1.1.43
    KEGG - Orthology:
    K11420
    KEGG - Pathway(s):
    hsa00310
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Eu HMTase1; FLJ12879; KIAA1876; Histone lysine N methyltransferase, H3 lysine 9 specific 5; Histone H3 K9 methyltransferase 5; H3 K9 HMTase 5; G9a like protein 1; GLP1
    Approved Symbol:
    EHMT1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 12
    Human (de-) phosphorylation sites: 12; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Chromosome 9q subtelomeric deletion syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 07383 Entrez Gene ID: 79813 OMIM ID: 607001 Swissprot Accession: Q9H9B1; Q86X08;