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FLASH GENE
Symbol PUS3 contributors: mct - updated : 08-01-2019
HGNC name pseudouridylate synthase 3
HGNC id 25461
Corresponding disease
MRT55 mental retardation, autosomal recessive 55
Location 11q24.2      Physical location : 125.763.379 - 125.773.116
Synonym symbol(s) FKSG32, MRT55, 2610020J05Rik
EC.number 5.4.99.45
DNA
TYPE functioning gene
STRUCTURE 9.74 kb     4 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 - 1862 - 481 - 2016 27055666
3 - 1438 - 273 - 2016 27055666
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivemale systemtestis   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies ortholog to yeast Pus3
Homologene
FAMILY
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,cytosolic
intracellular,nucleus
text
  • PUS3 an SRA1 are mainly cytoplasmic but are also localized in distinct nuclear subcompartments
  • basic FUNCTION
  • serves as a nuclear receptor coactivator
  • 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 NR signaling
  • role of PUS3 in isomerizing uracil to pseudouridine at positions 38 and 39 in tRNA
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRT55
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS