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FLASH GENE
Symbol CHD3 contributors: mct - updated : 15-05-2017
HGNC name chromodomain helicase DNA binding protein 3
HGNC id 1918
Corresponding disease
IDDMSF intellectual developmental disorder with macrocephaly, speech delay and dysmorphic facies
Location 17p13.1      Physical location : 7.788.122 - 7.816.075
Synonym name
  • Mi-2 alpha
  • zinc finger helicase (snf 2-like)
    • Synonym symbol(s) ZFH, Mi-2a, Mi2-ALPHA
    EC.number 3.6.4.12
    DNA
    TYPE anonymous DNA segment
    SPECIAL FEATURE arranged in tandem
    STRUCTURE 27.95 kb     39 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map pter - CHD3 - D17S786 - cen
    Authors Woodage (97)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    40 - 7372 - 2059 - 2007 17626165
    39 - 7241 - 1966 - 2007 17626165
    40 - 7343 - 2000 - 2007 17626165
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   highly
    Lymphoid/Immunelymph node   highly
     thymus   highly
    Respiratoryrespiratory tractlarynx  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a paired PHD type (C4-H-C3) zinc finger motif
  • two DNA binding chromodomains toward the N terminal
  • a central helicase ATPase related SNF2 domain
  • a region with similarity to the Myb-DNA binding domain
    • HOMOLOGY
    interspecies homolog to C.elegans t14g8.1
    Homologene
    FAMILY
  • member of the ZNF2/RAD54 helicase family
  • CHD family
    • CATEGORY regulatory , DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • regulator transcriptional for multiple genes and regulator of the chromatin structure
  • ATP-dependent chromatin remodelers that contribute to repression of developmentally regulated genes
  • might play an important role in tooth root development and subsequent cementogenesis
  • SENP1 and the chromatin remodeler CHD3 interact and jointly affect chromatin accessibility and gene expression
    • CELLULAR PROCESS nucleotide, chromatin organization, remodeling
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component component of the chromatin remodeling complex
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with pericentrin (forms complexes with CHD3 and CHD4, but a distinct CHD3-pericentrin complex is required for centrosomal anchoring of pericentrin/gamma-tubulin and for centrosome integrity)
  • interact with SERBP1 and HABP4
  • PRPF19 interacts with PHD3 to suppress the cell death under hypoxic conditions by limiting the function of PHD3 which leads to caspase activation
  • interacting with TRIM28 (TRIM28(Ser824) phosphorylation generates a motif that directly perturbs interactions between CHD3 SUMO-interacting motif and SUMO1, dispersing CHD3 from heterochromatin DSBs and enabling repair)
  • SENP1 physically interacts with the chromatin remodeler chromodomain helicase DNA-binding protein 3 (CHD3)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) IDDMSF
    Susceptibility
  • dermatomyositis
  • to Chiari I malformation (CM1)
    • Variant & Polymorphism other
  • de novo mutations in CHD3 among individuals with CM1
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS