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    PNPT1 polyribonucleotide nucleotidyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 87178, updated on 17-Jun-2019

    Summary

    Official Symbol
    PNPT1provided by HGNC
    Official Full Name
    polyribonucleotide nucleotidyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:23166
    See related
    Ensembl:ENSG00000138035 MIM:610316
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OLD35; DFNB70; PNPASE; old-35; COXPD13
    Summary
    The protein encoded by this gene belongs to the evolutionary conserved polynucleotide phosphorylase family comprised of phosphate dependent 3'-to-5' exoribonucleases implicated in RNA processing and degradation. This enzyme is predominantly localized in the mitochondrial intermembrane space and is involved in import of RNA to mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency-13 and autosomal recessive nonsyndromic deafness-70. Related pseudogenes are found on chromosomes 3 and 7. [provided by RefSeq, Dec 2012]
    Expression
    Ubiquitous expression in thyroid (RPKM 6.2), testis (RPKM 5.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See PNPT1 in Genome Data Viewer
    Location:
    2p16.1
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (55634061..55693853, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (55861198..55921045, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene protein phosphatase 4 regulatory subunit 3B Neighboring gene uncharacterized LOC107985885 Neighboring gene uncharacterized LOC107985811 Neighboring gene uncharacterized LOC112268416 Neighboring gene EGF containing fibulin extracellular matrix protein 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Combined oxidative phosphorylation deficiency 13
    MedGen: C3554129 OMIM: 614932 GeneReviews: Not available
    Compare labs
    Deafness, autosomal recessive 70
    MedGen: C1824925 OMIM: 614934 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Many sequence variants affecting diversity of adult human height.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    NHGRI GWA Catalog

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp762K1914

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    3'-5'-exoribonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    3'-5'-exoribonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA binding HDA PubMed 
    miRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    poly(G) binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    poly(U) RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    polyribonucleotide nucleotidyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    polyribonucleotide nucleotidyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    RNA catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    RNA catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA import into mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA phosphodiester bond hydrolysis, exonucleolytic IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polyadenylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to interferon-beta IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to oxidative stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    liver regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    mRNA catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial RNA 3'-end processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrial RNA 3'-end processing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitochondrial RNA 5'-end processing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitochondrial RNA catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrial RNA catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial RNA processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrial mRNA catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrial mRNA catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial mRNA polyadenylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitochondrion morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitotic cell cycle arrest IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of growth IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear polyadenylation-dependent mRNA catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of mRNA catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of miRNA catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of mitochondrial RNA catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein homotrimerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    rRNA import into mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of cellular respiration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of cellular senescence IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to cAMP IEA
    Inferred from Electronic Annotation
    more info
     
    response to growth hormone IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial degradosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial intermembrane space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    polysomal ribosome IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    polyribonucleotide nucleotidyltransferase 1, mitochondrial
    Names
    3'-5' RNA exonuclease OLD35
    PNPase 1
    PNPase old-35
    polynucleotide phosphorylase 1
    polynucleotide phosphorylase-like protein
    NP_149100.2
    XP_005264686.1
    XP_016860661.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033012.1 RefSeqGene

      Range
      5001..64848
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_033109.5NP_149100.2  polyribonucleotide nucleotidyltransferase 1, mitochondrial precursor

      See identical proteins and their annotated locations for NP_149100.2

      Status: REVIEWED

      Source sequence(s)
      AC015982, AJ458465, AW731791, BC009057, BU943827, CR749867, DB461021
      Consensus CDS
      CCDS1856.1
      UniProtKB/Swiss-Prot
      Q8TCS8
      Related
      ENSP00000400646.2, ENST00000447944.7
      Conserved Domains (6) summary
      smart00316
      Location:679750
      S1; Ribosomal protein S1-like RNA-binding domain
      cd11363
      Location:49273
      RNase_PH_PNPase_1; Polyribonucleotide nucleotidyltransferase, repeat 1
      cd11364
      Location:366596
      RNase_PH_PNPase_2; Polyribonucleotide nucleotidyltransferase, repeat 2
      PRK11824
      Location:49752
      PRK11824; polynucleotide phosphorylase/polyadenylase; Provisional
      pfam03726
      Location:282363
      PNPase; Polyribonucleotide nucleotidyltransferase, RNA binding domain
      cl00098
      Location:605664
      KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      55634061..55693853 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017005172.1XP_016860661.1  polyribonucleotide nucleotidyltransferase 1, mitochondrial isoform X1

      Conserved Domains (6) summary
      smart00316
      Location:599670
      S1; Ribosomal protein S1-like RNA-binding domain
      cd11364
      Location:286516
      RNase_PH_PNPase_2; Polyribonucleotide nucleotidyltransferase, repeat 2
      PRK11824
      Location:1672
      PRK11824; polynucleotide phosphorylase/polyadenylase; Provisional
      pfam03726
      Location:202283
      PNPase; Polyribonucleotide nucleotidyltransferase, RNA binding domain
      cl00098
      Location:525584
      KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
      cl03114
      Location:1193
      RNase_PH; RNase PH-like 3'-5' exoribonucleases
    2. XM_005264629.2XP_005264686.1  polyribonucleotide nucleotidyltransferase 1, mitochondrial isoform X1

      Conserved Domains (6) summary
      smart00316
      Location:599670
      S1; Ribosomal protein S1-like RNA-binding domain
      cd11364
      Location:286516
      RNase_PH_PNPase_2; Polyribonucleotide nucleotidyltransferase, repeat 2
      PRK11824
      Location:1672
      PRK11824; polynucleotide phosphorylase/polyadenylase; Provisional
      pfam03726
      Location:202283
      PNPase; Polyribonucleotide nucleotidyltransferase, RNA binding domain
      cl00098
      Location:525584
      KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
      cl03114
      Location:1193
      RNase_PH; RNase PH-like 3'-5' exoribonucleases

    RNA

    1. XR_001739010.1 RNA Sequence

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