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FLASH GENE
Symbol PUS1 contributors: mct - updated : 24-03-2013
HGNC name pseudouridylate synthase 1
HGNC id 15508
Corresponding disease
MLASA1 myopathy, lactic acidosis, and sideroblastic anemia 1
Location 12q24.33      Physical location : 132.413.744 - 132.428.406
Synonym name
  • tRNA-uridine isomerase I
  • tRNA pseudouridine synthase A
    • Synonym symbol(s) MGC11268, MLASA1
    EC.number 5.4.99.12
    DNA
    TYPE functioning gene
    STRUCTURE 14.62 kb     6 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
    6 - 2014 47 427 - 2005 15772074
    6 - 1637 44 399 - 2005 15772074
    6 - 1666 - 399 - 2005 15772074
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Endocrinepancreas    
    Lymphoid/Immunetonsils   highly
    Nervousbrain    
    Reproductivefemale systemuteruscervix highly
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to murine Pus1
    Homologene
    FAMILY
  • tRNA pseudouridine synthase truA family
    • CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • converting uridine into pseudouridine after the nucleotide has been incorporated into RNA
  • can bind with nuclear receptors (NRs) and function as a coactivator through pseudouridylation and likely activation of an RNA coactivator called steroid receptor RNA activator (SRA1)
  • PUS1 and PUS3 -dependent pseudouridylation of SRA1 is a highly complex posttranscriptional mechanism that controls a coactivator-corepressor switch in SRA1 with major consequences for nuclear receptor signaling
  • enzyme that converts uridine to Pseudouridine (Psi) in tRNA and other RNA
  • unusual site-specific modification enzyme in that it can modify a number of positions in tRNAs and can recognize several other types of RNA
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MLASA1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS