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FLASH GENE
Symbol H2AFY contributors: mct - updated : 08-10-2013
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)
    Physical map
    CDKL3 5q31 cyclin-dependent kinase-like 3 UBE2B 5q31 ubiquitin-conjugating enzyme E2B (RAD6 homolog) MGC13017 5q31.2 similar to RIKEN cDNA A430101B06 gene LOC391833 5 similar to 40S ribosomal protein S10 PHF15 5q31.2 PHD finger protein 15 SARA2 5q31.1 SAR1a gene homolog 2 (S. cerevisiae) SEC24A 5 SEC24 related gene family, member A (S. cerevisiae) CAMLG 5q23 calcium modulating ligand DDX46 5q31.2 DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 FLJ37562 5q31.2 hypothetical protein FLJ37562 FLJ22625 5q31.2 hypothetical protein FLJ22625 DCOHM 5q31.2 hypothetical protein FLJ22625 CATSPER3 5q31.2 cation channel, sperm associated 3 PITX1 5q31 paired-like homeodomain transcription factor 1 LOC389328 5 LOC389328 LOC389329 5 LOC389329 H2AFY 5q31.3-q32 H2A histone family, member Y DCNP1 5q31.2 dendritic cell nuclear protein 1 LOC345607 5q31.2 similar to FLJ00292 protein NEUROG1 5q23-q31 neurogenin 1 CXCL14 5q31 chemokine (C-X-C motif) ligand 14 LOC389330 5 LOC389330 LOC389331 5 LOC389331 LOC153328 5q31.2 similar to CG4995 gene product IL9 5q31.1 interleukin 9 FBXL3B 5q31 F-box and leucine-rich repeat protein 3B LECT2 5q31.1-q32 leukocyte cell-derived chemotaxin 2 TGFBI 5q31.1 transforming growth factor, beta-induced, 68kDa DAMS 5q31.1 SMAD in the antisense orientation MADH5 5q31.1 MAD, mothers against decapentaplegic homolog 5 (Drosophila) LOC389332 5 hypothetical gene supported by BC048329 TRPC7 5q31.2 transient receptor potential cation channel, subfamily C, member 7
    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
  • 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
    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