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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
    Physical map
    PIWIL1 12q24.33 piwi-like 1 (Drosophila) KIAA0318 12q24.33 piwi-like 1 (Drosophila) EPIM 7q34-qter epimorphin RAN 6p21.3 RAN, member RAS oncogene family LOC390367 12 LOC390367 LOC390368 12 similar to MAL13P1.296 GPR133 12q24.33 G protein-coupled receptor 133 LOC390369 12 similar to 40S ribosomal protein S6 (Phosphoprotein NP33) LOC338797 12q24.33 hypothetical protein LOC338797 LOC387896 12 LOC387896 LOC387897 12 LOC387897 LOC390370 12 similar to 40S ribosomal protein S6 (Phosphoprotein NP33) SFRS8 12q24.33 splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila) MMP17 12q24.33 matrix metalloproteinase 17 (membrane-inserted) ULK1 12q24.3 unc-51-like kinase 1 (C. elegans) LOC387898 12 LOC387898 PUS1 12q24.33 pseudouridylate synthase 1 EP400 12q24.33 E1A binding protein p400 FLJ33915 12q24.33 hypothetical protein FLJ33915 DDX51 12q24.33 DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 MGC3162 12q24.33 hypothetical protein MGC3162 GALNT9 12q24.33 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) LOC390371 12 similar to proline rich protein 2 P2RX2 12q24.33 purinergic receptor P2X, ligand-gated ion channel, 2 POLE 12q24.3 polymerase (DNA directed), epsilon PXMP2 12q24.33 peroxisomal membrane protein 2, 22kDa MGC5352 12q24.33 hypothetical protein MGC5352 GOLGA3 12q24.33 golgi autoantigen, golgin subfamily a, 3 CHFR 12q24.33 checkpoint with forkhead and ring finger domains LOC90462 12q24.33 hypothetical protein LOC90462 ZNF26 12q24.33 zinc finger protein 26 (KOX 20) ZNF84 12q24.33 zinc finger protein 84 (HPF2) ZNF140 12q24.32-q24.33 zinc finger protein 140 (clone pHZ-39) ZNF10 12q24.33 zinc finger protein 10 (KOX 1) ZNF268 5q11.2-24.3 zinc finger protein 268
    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