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FLASH GENE
Symbol PNPT1 contributors: mct - updated : 15-01-2011
HGNC name polyribonucleotide nucleotidyltransferase 1
HGNC id 23166
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
28 - 4579 - 783 - 2002 12473748
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
endocrinebraindiencephalonpituitary  
Hearing/Equilibriumearinnercochlea   Mus musculus
Nervousbraindiencephalonhypothalamus  
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
cells
SystemCellPubmedSpeciesStageRna symbol
Hearing / Equilibriumhair cell receptor Mus musculus
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one K homology RNA-binding domain
  • two RNASE PH domains
  • one S1 domain
  • conjugated PhosphoP
    HOMOLOGY
    Homologene
    FAMILY
  • polyribonucleotide nucleotidyltransferase family
  • CATEGORY enzyme , RNA associated
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria,interspace
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • playing an important role in growth control associated with terminal differentiation and cellular senescence
  • may play a significant role in regulating cellular growth and overlapping gene expression changes, also induced by IFN, may contribute to these important physiological processes
  • predominantly mitochondrial protein, and via its localization in both mitochondria and cytoplasm, is able to target a specific cytoplasmic mRNA, MYC, for degradation and through this process induce cellular senescence
  • plays an essential role in mediating IFN-mediated growth inhibition and its upregulation might mediate chronic inflammatory pathological processes during aging
  • type I IFN-inducible 3,5 prime exoribonuclease that mediates mRNA degradation
  • involved in RNA polyadenylation, degradation, and processing in prokaryotes and organelles
  • although located in the intermembrane space, is potentially involved, most likely by indirect means, in the processing and polyadenylation of mtRNA
  • could be involved in RNA targeting to human mitochondria
  • new role for PNPASE in regulating the import of nuclear-encoded RNAs into the mitochondrial matrix
  • has a central role in augmenting the import of small RNA components required for DNA replication and RNA processing into the mitochondrial matrix
  • represents the first receptor-like component that binds RNA in mammalian cells to mediate RNA import into the mitochondrial matrix
  • crucial role in mitochondrial import of small RNAs needed for replication, transcription, and translation of the mitochondrial genome
  • RNA-processing enzyme with expanding roles in regulating cellular physiology
  • involved in mitochondrial translation and RNA import
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    novel pathway by which an evolutionary conserved RNA-metabolizing enzyme, PNPT1, regulates cell growth and viability
    a component
  • homotrimerization of PNPase is necessary for the RNA processing and transporting function of the protein
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PNPT1-dependent import of RMRP into mitochondria
  • cell & other
    REGULATION
    induced by type 1 IFNs
    ASSOCIATED DISORDERS
    corresponding disease(s) COXPD13 , DFNB70
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    rapid overexpression directly promotes apoptosis without cell cycle changes, in melanoma cells
    constitutional     --low  
    leads to mitochondrial dysfunction with an impairment of mitochondrial RNA processing and the accumulation of polycistronic transcripts
    Susceptibility to presbyacusis
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
  • targeted overexpression of PNPT1 represents a novel strategy to selectively downregulate RNA expression and consequently intervene in a variety of pathophysiological conditions
  • ANIMAL & CELL MODELS