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FLASH GENE
Symbol UTP6 contributors: mct - updated : 05-06-2012
HGNC name UTP6, small subunit (SSU) processome component, homolog (yeast)
HGNC id 18279
Location 17q11.2      Physical location : 30.190.190 - 30.228.729
Synonym name
  • hepatocellular carcinoma associated antigen 66
  • multiple hat domains protein
  • U3 small nucleolar RNA-associated protein 6 homolog
  • Synonym symbol(s) C17orf40, HCA66, MHAT
    DNA
    TYPE functioning gene
    STRUCTURE 38.54 kb     19 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 2065 - 597 - -
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
    Reproductivefemale systemuteruscervix highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text predominantly in umbilical cord
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal region indirectly associated with gamma-tubulin through binding with gamma-tubulin complex protein 2 (TUBGCP2) and/or TUBGCP3
  • five HAT repeats, and intact HAT domain is essential for efficient pre-rRNA processing and cell growth
  • HOMOLOGY
    Homologene
    FAMILY RNA-processing protein family
    CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus,nucleolus
    text
  • localizes to the centrosome from S-phase to mitosis and to the nucleolus throughout interphase
  • basic FUNCTION
  • involved in RNA processing
  • UTP6 and kendrin (PCNT) provide sites for microtubule nucleation in the mammalian centrosome by anchoring TUBG1
  • able to potentiate APAF1, but not receptor-mediated apoptosis, by increasing downstream caspase activity following cytochrome c release from the mitochondria
  • novel regulator of gamma-tubulin function that plays a role in stabilizing components of the gamma-tubulin small complex, which is in turn essential for assembling the larger gamma-tubulin ring complex
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • able to modulate selectively APAF1-dependent apoptosis through its direct association with the CED4 domain of APAF1
  • UTP6-WDR36 interaction (HAT domain binds a specific peptide ligand in WDR36)
  • interacting with APAF1 (APAF1 acts by regulating the recruitment of UTP6, with which it interacts, to the centrosome)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    resulted in failure of centrosome duplication and in the formation of monopolar spindles, reminiscent of the phenotype observed after gamma-tubulin silencing (
    constitutional     --low  
    associated with a diminished amount of CASP9 in the apoptosome, resulting in a lower ability of the apoptosome to activate CASP3
    constitutional     --other  
    haploinsufficiency of UTP6 could render NF1 microdeleted patients-derived cells less susceptible to apoptosis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS