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FLASH GENE
Symbol BPTF contributors: mct/npt - updated : 18-05-2017
HGNC name bromodomain PHD finger transcription factor
HGNC id 3581
Corresponding disease
NEDDFL neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Location 17q24.2      Physical location : 65.821.779 - 65.980.493
Synonym name
  • bromodomain and PHD domain transcription factor
  • nucleosome remodeling factor 301kD
  • fetal Alz-50 reactive clone 1
  • fetal Alzheimer antigen Alz-50 reactive clone 1
  • nucleosome-remodeling factor subunit BPTF
  • Synonym symbol(s) ALZ50, FAC1l, FALZA , FAC1, NURF301, FALZ
    DNA
    TYPE functioning gene
    STRUCTURE 158.71 kb     30 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    30 - 10863 - 2903 - 1999 10403843
    28 - 10914 - 2920 - 1999 10403843
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepharynx   highly
    Lymphoid/Immunelymph node   highly
    Nervousbrainhindbraincerebellum  
    Reproductivefemale systembreastmammary gland highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text brain, developing cortex
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • zinc finger protein with nuclear localization signals and AA sequences, that may signal rapid protein degradation
  • a bromodomain
  • two PHD fingers, and second PHD finger mediates binding of the NURF complex to chromatin with trimethylation of histone H3 lysine 4 (H3K4me3)
  • three LXXLL putative nuclear receptor-binding motifs
  • a DDT DNA association domain
  • a BAZ domain present in many ISWI binding partners
  • a glutamine-rich region
  • C-terminal bromodomain and juxtaposed PHD finger that bind histone H3 trimethylated at Lys4 (H3K4me3) and histone H4 acetylated at Lys16 (H4K16Ac) respectively (Kwon 2009)
  • HOMOLOGY
    Homologene
    FAMILY
  • PBTF family
  • CATEGORY transcription factor , antigen
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • playing a role in hormonally regulated, chromatin-mediated regulation of transcription
  • only NURF-specific subunit of NURF and is instrumental in recruiting the complex to target genes (Kwon 2009)
  • required for spermatogenesis (Kwon 2009)
  • maintains chromatin accessibility and the self-renewal capacity of mammary gland stem cells
  • critical for the homeostasis of T cells via a cell-intrinsic manner, and essential for the maintenance and function of regulatory T (Treg) cells
  • vital role for BPTF in T and Treg cell function and immune homeostasis
  • is essential for the formation of mesoderm, endoderm, and differentiated ectoderm lineages and is required for the establishment of the embryonal anterior-posterior axis during early development
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • of the chromatin remodeling complexes (NURF complex)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • mediating a direct preferential association with H3K4me3 tails
  • mononucleosomal histone modification pattern by BPTF via multivalent interactions
  • NRP2 inhibits WDFY1 transcription by preventing the nuclear localization of a transcription factor, BPTF
  • chromatin remodeler BPTF is a MYC interactor required for MYC chromatin recruitment and transcriptional activity (pMID: 27314097)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NEDDFL
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in amyotrophic lateral sclerosis
    tumoral     --over  
    significantly overexpressed in NSCLC tissues in comparison with paired normal control tissues
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerlung 
    potential target for the development of therapeutic approaches to NSCLC
    cancer  
    BPTF as a therapeutic target in MYC-addicted tumors
    ANIMAL & CELL MODELS