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FLASH GENE
Symbol TCOF1 contributors: mct - updated : 05-01-2015
HGNC name Treacher Collins-Franceschetti syndrome 1
HGNC id 11654
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N-terminus, with a LIS1 homolog motif and repeating units of acidic and basic residues each containing a large number of putative casein kinase 2 and protein kinase C phosphorylation sites
  • 11 repetitive motifs coded by exon 6A-16 subject to phosphorylation by casein-kinase 2
  • a three-domain structure with nucleolar localization signals in the C-terminus
    • conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to murine Tcof1
    intraspecies homolog to phosphonuclear protein,NOLC1
    Homologene
    FAMILY
    CATEGORY regulatory , structural protein , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,chromatin/chromosome
    intracellular,nucleus,nucleolus
    text colocalizing with UBTF in the condensed chromosome of mitotic cells
    basic FUNCTION
  • putatively involved in early embryonic development, also in nuclear cytoplasmic shuttle
  • playing a role in craniofacial morphogenesis
  • involved in ribosomal DNA gene transcription by interacting with upstream binding factor(UBTF)and in involved in pre-rRNA methylation
  • required cell-autonomously for the formation and proliferation of neural crest cells and regulating
    • proliferation by controlling the production of mature ribosomes
  • unique spatiotemporal regulator of ribosome biogenesis
  • TCOF1 and PLK1 are critically required for proper cortical neurogenesis, which has important implications in the regulation of mammalian brain size and the pathogenesis of congenital
  • acts as a modifier of PAX3 during enteric nervous system development and in the pathogenesis of colonic aganglionosis
  • TCOF1-mediated NBN recruitment into the nucleoli regulates rRNA silencing in trans in the presence of distant chromosome breaks
  • is a DDR factor that could cooperate with ATM and NBN to suppress inappropriate rDNA transcription and maintain genomic integrity after DNA damage
    • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS development , cellular trafficking transport
    text nuclear-cytoplasmic transport
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with UBTF( affecting transcription of the ribosomal DNA gene)
  • TCOF1 associates with upstream binding factor (UBTF) to regulate rRNA gene (rDNA) transcription
  • TCOF1 and PLK1 are novel regulators of spindle fidelity, mitotic progression, and proliferation in the maintenance and localization of neural progenitor cells
  • interaction between the DDR factor NBN and TCOF1, a nucleolar protein that regulates ribosomal DNA (rDNA) transcription
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) TCS
    Susceptibility to isolated cleft palate with maternal transmission
    Variant & Polymorphism SNP increasing the risk of isolated cleft palate with maternal transmission
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS