Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol PNPT1 contributors: mct - updated : 15-01-2011
HGNC name polyribonucleotide nucleotidyltransferase 1
HGNC id 23166
Corresponding disease
COXPD13 combined oxidative phosphorylation deficiency-13
DFNB70 deafness, autosomal recessive 70
Location 2p16.1      Physical location : 55.861.197 - 55.921.011
Synonym name
  • 3'-5' RNA exonuclease
  • polyribonucleotide nucleotidyltransferase 1, mitochondrial
  • polynucleotide phosphorylase-like protein
  • Synonym symbol(s) PNPASE, OLD35
    EC.number 2.7.7.8
    DNA
    TYPE functioning gene
    STRUCTURE 54.81 kb     28 Exon(s)
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC129656 2p16.3 similar to MECT1 protein LOC388949 2 similar to signal-transducing adaptor protein-2; brk kinase substrate ASB3 2p16-p14 ankyrin repeat and SOCS box-containing 3 XTP3TPB 2p16.3 XTP3-transactivated protein B GPR75 2p16 G protein-coupled receptor 75 PSME4 2p16.1 proteasome (prosome, macropain) activator subunit 4 LOC388950 2 similar to hypothetical protein ACYP2 2p16.2 acylphosphatase 2, muscle type LOC388951 2 similar to Testis-specific Y-encoded-like protein 1 (TSPY-like 1) FLJ40298 2p16.3 hypothetical protein FLJ40298 SPTBN1 2p16 spectrin, beta, non-erythrocytic 1 DKFZp547I014 2p16.3 hypothetical protein DKFZp547I014 RTN4 2p14-p13 reticulon 4 FLJ31438 2p16.3 hypothetical protein FLJ31438 RPS27A 2p16 ribosomal protein S27a MTIF2 2p16-p14 mitochondrial translational initiation factor 2 LOC344405 2p16.3 similar to RIKEN cDNA 2010316F05 LOC55580 2p16.3 hypothetical protein LOC55580 MGC15407 2p16.2 similar to RIKEN cDNA 4931428D14 gene KIAA1387 2p16.2 KIAA1387 protein PNPT1 2p15 polyribonucleotide nucleotidyltransferase 1 EFEMP1 2p16 EGF-containing fibulin-like extracellular matrix protein 1 LOC388952 2 LOC388952 KIAA1912 2p16.2 KIAA1912 protein LOC391374 2 similar to Eukaryotic translation initiation factor 2 subunit 2 (Eukaryotic translation initiation factor 2 beta subunit) (eIF-2-beta) LOC391375 2 similar to actin VRK2 2p16-p15 vaccinia related kinase 2 FANCL 2p16.1 Fanconi anemia, complementation group L LOC339799 2p16.1 similar to eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa; eukaryotic translation initiation factor 3, subunit 5 (epsilon, 47kD); eIF3-epsilon LOC151443 2p16.1 hypothetical LOC151443 LOC151445 2p16.1 similar to IK cytokine; arginine/glutamic acid/aspartic acid repeat containing protein LOC130839 2p16.1 hypothetical gene LOC130839
    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