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FLASH GENE
Symbol HELLS contributors: mct - updated : 09-01-2019
HGNC name helicase, lymphoid-specific
HGNC id 4861
Corresponding disease
ICF4 Immunodeficiency-centromeric instability-facial anomalies syndrome 4
Location 10q23.33      Physical location : 96.305.573 - 96.361.855
Synonym name
  • proliferation-associated SNF2-like protein
  • SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6
    • Synonym symbol(s) LSH, PASG, SMARCA6, ICF4, Nbla10143
    DNA
    TYPE functioning gene
    STRUCTURE 68.14 kb     22 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure
  • the minimal promoter is located between positions -216 and -119 relative to the transcription start site, and contains two putative E2F binding sites
    • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 - 3165 - 838 - 2018 29339483
    23 - 3207 - 714 - 2018 29339483
    23 - 3301 - 884 - 2018 29339483
    21 - 2966 - 432 - 2018 29339483
    20 - 2869 - 740 - 2018 29339483
    23 - 3082 - 477 - 2018 29339483
    22 - 3067 - 806 - 2018 29339483
    20 - 2773 - 708 - 2018 29339483
    21 - 3098 - 700 - 2018 29339483
    21 - 3118 - 822 - 2018 29339483
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue   
    Reproductivemale systemtestis   
    Respiratoryrespiratory tractlarynx   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticthymocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to yeast S cerivisiae YFK8
    Homologene
    FAMILY
  • SNF2/RAD54 family
  • SNF2 family of chromatin remodeling ATPases
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,nucleus,chromatin/chromosome,heterochromosome
    intracellular,nucleus,chromatin/chromosome,centromere
    basic FUNCTION
  • involved with cellular proliferation and may play a role in leukemogenesis
  • has a critical and previously unidentified role in epigenetic gene silencing and maintenance of genomic stability during female meiosis
  • may serves as a recruiting factor for DNMTs and HDACs to establish transcriptionally repressive chromatin which is perhaps further stabilized by DNA methylation at targeted loci
  • represses endogenous CDKN2A expression by recruiting HDAC to establish a repressive chromatin structure at the CDKN2A promoter, which in turn delays cell senescence
  • modulator of CpG methylation, crucial for the formation of normal heterochromatin and normal histone methylation
  • controls CpG methylation at selected HOX genes
  • essential for normal levels of DNA methylation in the mammalian genome
  • important for de novo DNA methylation events that accompany the establishment and differentiation of embryonic lineage cells
  • promotes binding of DNA methyltransferases and the EHMT2 complex to specific loci and facilitates developmentally programmed DNA methylation and stable gene silencing during lineage commitment and differentiation
  • major epigenetic regulator that is essential for DNA methylation and histone acetylation at repetitive elements
  • HELLS modulates CG methylation at all classes of repeat elements and is critical for repression of a subset of repeat elements
  • exerts epigenetic regulation at key regulators of neural stem cell fate ensuring adequate neural stem/progenitor cells (NSPCs) self-renewal and maintenance during development
  • is a chromatin remodeling factor that regulates DNA methylation and chromatin function in mammals
  • ZBTB24, HELLS, CDCA7 gene products are not involved in establishing or maintaining subtelomeric methylation
  • SWI2/SNF2 chromatin remodeling enzyme
  • is a key epigenetic driver of hepatocellular carcinoma
    • CELLULAR PROCESS nucleotide, repair
    PHYSIOLOGICAL PROCESS
    text putative
    PATHWAY
    metabolism
    signaling
    a component
  • HELLS-CDCA7 complex possesses nucleosome remodeling activity
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • cooperates with the DNMTs DNMT1 and DNMT3B and with the histone deacetylases (HDACs) HDAC1 and HDAC2 to silence transcription
  • E2F1 physically interacts with the HELLS promoter by binding to each of the two putative binding sites and transactivates the HELLS promoter
  • HELLS interacts with E2F3A and cooperates with its oncogenic functions
  • ability of HELLS to bind ATP and the cellular concentration of DNMT3B are critical for cell-autonomous de novo DNA methylation in somatic cells
  • assists gene repression upon binding to the POU5F1 promoter region
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ICF4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    delays cell senescence by silencing CDKN2A in fibroblasts
    tumoral     --over  
    in hepatocellular carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS