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FLASH GENE
Symbol H2AFY contributors: mct - updated : 08-10-2016
HGNC name H2A histone family, member Y
HGNC id 4740
Location 5q31.1      Physical location : 134.670.070 - 134.735.577
Synonym name
  • core histone macro-H2A.1
  • histone H2A.y
  • histone macroH2A1
  • histone macroH2A1.1
  • Synonym symbol(s) H2AF12M, H2AFJ, MACROH2A1.2, H2A1M, MACROH2A1.1, mH2A1
    DNA
    TYPE functioning gene
    STRUCTURE 65.57 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned   linked   status provisional
    Map cen - D5S471 - D5S622 - D5S467 - D5S649 - IL5 - D5S666 - H2AFY - TGFBI - D5S393 - qter
    Authors GeneMap (98)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 1940 39.4 372 - 2012 23022728
    9 splicing 1931 39 369 - 2012 23022728
    9 - 1923 39.4 371 - 2012 23022728
    9 - 1937 - 371 - 2012 23022728
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  highly
    Reproductivemale systemprostate  highly
    Respiratorylung   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES basic
    STRUCTURE
    motifs/domains
  • DUF27 domain,
  • small stretch of basic AA
  • a putative leucine zipper motif
  • highly alpha-helical C-terminus confering an asymmetric conformation to nucleosomes
  • containing a histone domain and a large non-histone part called the macrodomain
  • C-terminal extension can recruit onto chromatin the poly-ADP-ribose polymerase (PARP)1, which is crucial for DNA repair
  • HOMOLOGY
    interspecies homolog to murine H2afy
    intraspecies homolog to H2A
    Homologene
    FAMILY H2A histone family, DUF27 family
    CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome,nucleosome
    intracellular,nucleus,chromatin/chromosome,euchromosome
    text
  • primarily known to be incorporated into nucleosomes and is related to X chromosome inactivation, with a strong tendency to localize in the inactivated X chromosome
  • does not localize to the centrosome and the centrosomal signal observed with antibodies directed against the H2AFY non-histone region may be the result of antibody cross-reactivity
  • basic FUNCTION
  • involved in compaction of DNA into nucleosome
  • actively involved in stable X inactivation
  • unexpected role in the escape from heterochromatin-associated silencing and the enhancement of autosomal gene transcription
  • role in regulating homeostasis in a sex-dependent manner, subject to genetic background
  • may potentially suppress the enzymatic action of VRK1, preventing normal cell cycle progression and stopping cells from reaching mitosis
  • is a critical chromatin component that regulates the delicate balance between self-renewal and differentiation of embryonic and adult stem cells
  • provide a redundant silencing layer or terminal differentiation 'lock' at critical pluripotency genes that presents as an epigenetic barrier when differentiated cells are challenged to reprogram
  • CELLULAR PROCESS nucleotide, chromatin organization, remodeling
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component core histone H2A/H3B/H3/H4
    INTERACTION
    DNA approximatively 0.146 kb
    RNA
    small molecule
    protein
  • H2A, H2B, H3, H4
  • QKI regulates the alternative splicing of H2AFY pre-mRNA, resulting in increased levels of macroH2A1.1
  • functions as a suppressor against VRK1 during interphase
  • binds to VRK1 and sequesters it from histone H3 during interphase of the cell cycle
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in the blood and frontal cortex of patients with Huntington disease compared with controls
    tumoral fusion      
    H2AFY is a novel fusion gene partner of MECOM in an elderly male acute myeloid leukemia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • potential biomarker associated with HD activity
  • Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerativehuntington chorea
    having pharmacodynamic response that may become useful for enabling disease-modifying therapeutics for HD
    ANIMAL & CELL MODELS