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FLASH GENE
Symbol EP400 contributors: mct - updated : 01-10-2014
HGNC name E1A binding protein p400
HGNC id 11958
Location 12q24.33      Physical location : 132.434.507 - 132.565.004
Synonym name
  • trinucleotide repeat (CAG) containing 12
  • CAGH32 protein
  • p400 SWI2/SNF2-related protein
  • CAG repeat protein 32
  • domino
  • Synonym symbol(s) P400, CAGH32, TNRC12, KIAA1498, KIAA1818, DKFZP434I225, FLJ45115, FLJ42018, hDomino
    EC.number 3.6.1.-
    DNA
    TYPE anonymous DNA segment
    STRUCTURE 130.50 kb     53 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D12S97 - D12S343 - EP400 - D12S357 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    53 - 12265 - 3122 - 2008 18413597
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineparathyroid   highly
    Lymphoid/Immunelymph node   highly
    Nervousbrain    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an helicase ATP-binding domain
  • an helicase C-terminal domain
  • a HSA domain
  • a Myb-like domain
  • a conserved SWI3-ADA2-N-CoR-TFIIIB (SANT) domain which interact both with histone tails and with other proteins and is further implicated in both positive and negative chromatin-regulatory modifications
  • HOMOLOGY
    Homologene
    FAMILY
  • SNF2/RAD54 helicase family
  • SWI2/SNF2 family of chromatin remodeling proteins
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    basic FUNCTION
  • may be required for transcriptional activation of E2F1 and MYC target genes during cellular proliferation
  • represses CDKN1A expression in unstressed cells, thereby allowing cell cycle progression and DNA damage-induced apoptosis
  • inhibits TP53 --> CDKN1A transcription and the development of premature senescence
  • SWI2/SNF2-related ATPase that serves as an ATP-dependent chromatin remodeling enzyme
  • represses basal CDKN1A gene expression through dual mechanisms that include the direct inhibition of KAT5 enzymatic activity and the previously described ATP-dependent positioning of H2AFZ at the promoter
  • through an ATP-dependent chromatin remodeling activity that facilitates H2AFZ deposition, acts to repress specific genes (CDKN1A) in this pathway
  • ATP-dependent chromatin-remodeling protein that catalyzes the deposition of histone variant H2A.Z into nucleosomes to regulate gene expression
  • plays a key role in cellular proliferation by controlling the expression of cell-cycle-regulatory genes
  • is a novel DNA damage response protein and EP400-mediated alterations in nucleosome and chromatin structure promote both chromatin ubiquitination and the accumulation of BRCA1 and TP53BP1 at sites of DNA damage
  • EP400 ATPase is required for DNA repair by homologous recombination (HR)
  • is important for HR-dependent processes, such as recruitment of RAD51 to DSB (a key component of HR), homology-directed repair, and survival after DNA damage
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the NuA4 histone acetyltransferase complex
  • component of the p53-p21(WAF1/CIP1/sid1) pathway, regulating the CDKN1A transcription and senescence induction program
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
  • protein
  • interacting with MYC, an essential downstream target of E1A
  • interacting with KAT5 (KAT5 and EP400, which belongs to the Tip60 complex, are also required for DNA damage-induced apoptosis)
  • interacting with H2AFZ (required for the localization of H2AFZ, and largely colocalizes with H2AFZ at multiple promoters)
  • interaction between KAT5 and EP400 involving the SANT domain, which binds to the HAT domain of KAT5 and suppresses HAT activity
  • HDAC6 plays a major role in the modulation of KAT5-EP400 function in stem cells
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    EP400-PHF1, was discovered in ossifying fibromyxoid tumor
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS