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FLASH GENE
Symbol PHF1 contributors: mct - updated : 03-09-2014
HGNC name PHD finger protein 1
HGNC id 8919
Location 6p21.32      Physical location : 4.859.020 - 33.384.229
Synonym name
  • polycomb-like protein 1
  • protein PHF1
  • Synonym symbol(s) PHF2, MTF2L2, PCL1, TDRD19C, hPHF1
    DNA
    TYPE functioning gene
    STRUCTURE 5.46 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 splicing 2312 61.9 567 - -
  • also called variant PHF2 or PHF1B
  • is an activator at GABRB1
  • may be a molecular transducer of GABA(A)R function and thus GABA-mediated neurotransmission in the central nervous system
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousnerve   highly
    Reproductivefemale systemovary  highly
     male systemprostate  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • PHD finger protein 1 with the PHD (C4-H-C3) zinc finger motif
  • a Tudor domains that selectively bind to histone H3K36me3
  • the first PHD domains do not exhibit histone H3K4 binding ability, nor do they affect the Tudor domain binding to histones
  • HOMOLOGY
    interspecies homolog to Drosophila polycomb-like
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • involved in the epigenetic regulation of developmental genes
  • promoting nonhomologous end-joining processes
  • involved in genome maintenance processes
  • is essential in epigenetic regulation and genome maintenance
  • can mediate deposition of the repressive H3K27me3 mark and acts as a cofactor in early DNA-damage response
  • involved in the response to DNA double-strand breaks in human cells, promotes nonhomologous end-joining processes through interaction with XRCC6/XRCC5
  • common function of PHF1, MTF2 and PHF19 is recruitment of the PRC2 complex to its target genes for histone methylation, Hox gene silencing and ESC (Extra Sex Combs) self-renewal
  • CELLULAR PROCESS nucleotide, genomic integrity
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
  • component of a novel EED-EZH2 complex and demonstrate its important role in H3K27 methylation and Hox gene silencing (Cao 2008)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with a number of proteins involved in DNA damage responses, RAD50, SMC1, DHX9 and TP53
  • is a novel positive regulator of the TP53 pathway
  • binds to H3tK27me3 in human chromatin
  • binding of PHF1 Tudor to H3K36me3 enhances nucleosome accessibility
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    JAZF1/PHF1 fusion in a mesenchymal tumor of nonendometrial stromal origin
    tumoral fusion      
    EP400-PHF1, was discovered in ossifying fibromyxoid tumor
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS