Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol PHF1 contributors: mct - updated : 03-09-2014
HGNC name PHD finger protein 1
HGNC id 8919
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