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FLASH GENE
Symbol ASH1L contributors: mct/npt - updated : 26-08-2016
HGNC name ash1 (absent, small, or homeotic)-like (Drosophila)
HGNC id 19088
Corresponding disease
MRD52 mental retardation, autosomal dominant 52
Location 1q22      Physical location : 155.305.052 - 155.532.324
Synonym name
  • Drosophila discs absent, small, or homeotic-1 homolog
  • lysine N-methyltransferase 2H
  • ASH1-like protein
    • Synonym symbol(s) ASH1, ASH1L1, FLJ10504, KIAA1420, KMT2H
    EC.number 2.1.1.43
    DNA
    TYPE functioning gene
    STRUCTURE 227.27 kb     28 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    28 - 11784 - 2964 - Gregory (2007)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestivepharynx   highly
    Lymphoid/Immunelymph node   highly
    Nervousnervecranial nerve  highly
    Urinarybladder   highly
     kidney    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticprogenitor cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a SET domain
  • a PHD finger
  • four AT hooks and a region with homology to the bromodomain
  • three C-terminal chromatin-interacting domains greatly enhance ASH1L enzymatic activity and ASH1L requires native nucleosome substrate for robust activity
  • C-terminal part of ASH1L interacts with HDAC1 repression complexes, suggesting that the PHD finger of ASH1L may be involved in down-regulation of genes for normal development of alphabeta T cells
    • HOMOLOGY
    interspecies homolog to Drosophila ash1
    Homologene
    FAMILY
  • histone-lysine methyltransferase family
  • SET2 subfamily
    • CATEGORY adhesion , transcription factor , signaling
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,tight
        intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • chromatin remodeling
  • putatively involved in adhesion mediated signaling
  • play essential roles in epigenetic regulation of HOX genes
  • associates with the transcribed region of all active genes examined, including Hox genes (Gregory 2007)
  • occupies most, if not all, active genes and methylates histone H3 in a nonredundant fashion at a subset of genes (Gregory 2007)
  • involved in lung neuroendocrine (NE) differentiation and tumor promotion (Wang 2007)
  • ASH1L histone methyltransferase regulates the handoff between damage recognition factors in global-genome nucleotide excision repair
  • controls quiescence and self-renewal potential in hematopoietic stem cells
  • both ASH1L and SETD2 are H3K36 specific methyltransferases but only SETD2 can trimethylate this mark
  • histone methyltransferase (HMTase) involved in gene activation that is overexpressed in multiple forms of cancer
  • role of concerted conformational dynamics in ASH1L function
    • CELLULAR PROCESS nucleotide, chromatin organization, remodeling
    nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with trithorax and methylate histone H3 lysine 4 (K4) as well as H3 K9 and H4 K20 and has K36-specific methyltransferase activities
  • induction of CDK5 activity is a novel mechanism through which ASH1L may regulate migration in lung carcinogenesis
  • suppresses interleukin-6 production and inflammatory autoimmune diseases by inducing the ubiquitin-editing enzyme TNFAIP3
  • cooperated functionally with KMT2A, as combined loss of ASH1L and KMT2A, but not isolated ASHLl or KMT2A deficiency, induced overt hematopoietic failure
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRD52
    Susceptibility
    Variant & Polymorphism
    Candidate gene neuroendocrine marker whose expression is largely conserved in normal and neoplastic pituitary cells (Ferretti 2003)
    Marker
    Therapy target promising new preclinical tool for chemoprevention of peripheral lung carcinomas (Wang 2007)
    ANIMAL & CELL MODELS