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FLASH GENE
Symbol PHF6 contributors: mct/npt - updated : 23-06-2015
HGNC name PHD finger protein 6
HGNC id 18145
Corresponding disease
BFLS Börjeson-Forssman-Lehmann syndrome
Location Xq26.2      Physical location : 133.507.341 - 133.562.821
Synonym name PHD-like zinc finger protein 6
Synonym symbol(s) KIAA1823, MGC14797, BORJ
DNA
TYPE functioning gene
STRUCTURE 55.48 kb     10 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
8 splicing 1236 - 312 - Lower, Crawford (2006)
10 splicing 4772 41.2 365 - Lower, Vallee (2004)
  • also called the PHF6B
  • inclusion of the intron 10
  • - splicing - - - - Vallee (2004)
  • also called PHF6 delta exon 3
  • maintained in the nucleolus, lacking exon 3(exon skipping)
  • in normal or mild form of BFLS patients
  • 11 - 4442 - 365 - Crawford (2006)
    also called PHF6A
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
    Hearing/Equilibriumearinnercochlea highly
    Lymphoid/Immunelymph node   highly
    Nervousbrainhindbraincerebellum  
     braindiencephalonhypothalamus  
     spinal cord    
    Reproductivefemale systemovary   
    Urinarybladder   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text liver
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two PHD-like zinc finger domains with a proposed role in controlling gene expression, that are imperfect PHD domains and may have functions that differ from other PHD domains, and its nucleolus localization mainly depends on its PHD1 domain
  • four nuclear localization signals (Van Vlierberghe 2010)
  • HOMOLOGY
    Homologene
    FAMILY
  • plant homeodomain (PHD)-like finger (PHF) family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic,ribosome
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • may be playing a role in transcriptional regulation
  • playing an important role in cell growth and poliferation which may be achieved via its participation in ribosomes biogenesis (at the RNA and/or protein level)
  • new X-linked tumor suppressor in T--cell acute lymphoblastic leukemia (Van Vlierberghe 2010)
  • nucleolus, ribosomal RNA promoter-associated protein
  • key function of PHF6 is involved in regulating rRNA synthesis, which may contribute to its roles in cell cycle control, genomic maintenance, and tumor suppression
  • tumor suppressor function of PHF6 may be associated with its regulatory role in rRNA synthesis, which contributes to genome maintenance
  • is required for normal cell cycle progression
  • caretaker tumor suppressor, which functions by ensuring proper rRNA synthesis to maintain genomic stability
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • localizes to the nucleolus, directly interacts with upstream binding factor (UBTF), and suppresses ribosomal RNA (rRNA) transcription by affecting the protein level of UBTF
  • UBTF, a transcription factor required for the expression of ribosomal RNAs, is a major PHF6-associated protein (23229552)
  • cell & other
    REGULATION
    Other phosphorylated during mitosis and by the ATM and ATR kinases upon DNA damage, which suggests a dynamic regulation of PHF6 during cell cycle and DNA repair (Van Vlierberghe 2010)
    ASSOCIATED DISORDERS
    corresponding disease(s) BFLS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation      
    truncating or missense mutations in 38 p100 of adult and ~16 p100 of pediatric -T-ALL (Van Vlierberghe 2010)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS