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FLASH GENE
Symbol UBTF contributors: mct/npt/pgu - updated : 23-06-2015
HGNC name upstream binding transcription factor, RNA polymerase I
HGNC id 12511
Corresponding disease
CONDBA neurodegeneration, childhood-onset, with brain atrophy
Location 17q21.31      Physical location : 42.282.401 - 42.298.250
Synonym name
  • autoantigen NOR90
  • nucleolar transcription factor 1
  • upstream-binding factor 1
  • Synonym symbol(s) UBF, NOR-90, UBF1, NOR-90, UBF-1, UBF2
    DNA
    TYPE like-sequence
    STRUCTURE 15.85 kb     20 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map see BRCA1 BRCA1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    21 - 4832 89.4 764 - 2007 17699751
    UBTF1
    20 - 4721 - 727 - 2007 17699751
  • UBTF2
  • does not function in Pol I transcription, is sufficient to regulate histone gene expression in the absence of UBTF1
  • 20 - 4635 - 727 - 2007 17699751
    UBTF2
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   highly
    Lymphoid/Immunetonsils   highly
    Reproductivemale systemprostate  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six DNA binding motifs HMG-box
  • a transactivation domain and several HMG domains that are required for DNA binding and the activation of rDNA transcription
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY transcription factor , antigen
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,nucleolus
    text colocalizing with BAZ2A, SMARCA5
    basic FUNCTION
  • RNA polymerase 1, associated transcription factor 1
  • essential for activation of transcription of 18S and 28S RNA
  • required for the initiation of the transcriptional complex
  • activates RNA polymerase I transcription by stimulating promoter escape
  • with RUNX2, and TLE1 together occupy nucleolar organizing regions (NORs) during mitosis and control histone modifications
  • required for recruiting Pol II to the highly transcribed histone gene clusters and for their optimal expression
  • novel role for UBTF1 and UBTF2 in maintaining genome stability through coordinating the expression of highly transcribed Pol I (UBTF1 activity) and Pol II genes (UBTF2 activity)
  • is instrumental in the generation of rRNA transcripts (pMID: 28777933)
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • a nucleolar remodeling complex (NoRC) with BAZ2A, SMARCA5
  • INTERACTION
    DNA binding to rRNA gene promoter
    RNA
    small molecule
    protein
  • interacting with TCOF1
  • partner of CDKN2A (negatively regulates rRNA transcription and inhibits UBTF transcription factor phosphorylation)
  • TCOF1 associates with upstream binding factor (UBTF) to regulate rRNA gene (rDNA) transcription
  • interacting with RASL11A (co-localizes with UBTF not only at nucleoli in interphase, but also on chromosomes in mitotic cells)
  • CHP -binding protein
  • UTP20 interacts with UBF at the rDNA promoter
  • PHF6 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
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CONDBA
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS