• Gene id: 87178

Gene Summary

• Gene Symbol: PNPT1   Gene   UCSC   Ensembl
• Aliases: COXPD13, DFNB70, OLD35, PNPASE, old-35
• Gene name: polyribonucleotide nucleotidyltransferase 1
• Alternate names: polyribonucleotide nucleotidyltransferase 1, mitochondrial, 3'-5' RNA exonuclease OLD35, PNPase 1, PNPase old-35, polynucleotide phosphorylase 1, polynucleotide phosphorylase-like protein,
• Gene location: 2p16.1 (55693852: 55634060)     Exons: 29     NC_000002.12
• Gene summary(Entrez): 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 t
• OMIM: 613552

Protein Summary

• Protein general information: Q8TCS8  
  • Name: Polyribonucleotide nucleotidyltransferase 1, mitochondrial (EC 2.7.7.8) (3' 5' RNA exonuclease OLD35) (PNPase old 35) (Polynucleotide phosphorylase 1) (PNPase 1) (Polynucleotide phosphorylase like protein)
  • Length: 783  
  • Mass: 85951
• Sequence:

  MAACRYCCSCLRLRPLSDGPFLLPRRDRALTQLQVRALWSSAGSRAVAVDLGNRKLEISSGKLARFADGSAVVQS
  GDTAVMVTAVSKTKPSPSQFMPLVVDYRQKAAAAGRIPTNYLRREIGTSDKEILTSRIIDRSIRPLFPAGYFYDT
  QVLCNLLAVDGVNEPDVLAINGASVALSLSDIPWNGPVGAVRIGIIDGEYVVNPTRKEMSSSTLNLVVAGAPKSQ
  IVMLEASAENILQQDFCHAIKVGVKYTQQIIQGIQQLVKETGVTKRTPQKLFTPSPEIVKYTHKLAMERLYAVFT
  DYEHDKVSRDEAVNKIRLDTEEQLKEKFPEADPYEIIESFNVVAKEVFRSIVLNEYKRCDGRDLTSLRNVSCEVD
  MFKTLHGSALFQRGQTQVLCTVTFDSLESGIKSDQVITAINGIKDKNFMLHYEFPPYATNEIGKVTGLNRRELGH
  GALAEKALYPVIPRDFPFTIRVTSEVLESNGSSSMASACGGSLALMDSGVPISSAVAGVAIGLVTKTDPEKGEIE
  DYRLLTDILGIEDYNGDMDFKIAGTNKGITALQADIKLPGIPIKIVMEAIQQASVAKKEILQIMNKTISKPRASR
  KENGPVVETVQVPLSKRAKFVGPGGYNLKKLQAETGVTISQVDEETFSVFAPTPSAMHEARDFITEICKDDQEQQ
  LEFGAVYTATITEIRDTGVMVKLYPNMTAVLLHNTQLDQRKIKHPTALGLEVGQEIQVKYFGRDPADGRMRLSRK
  VLQSPATTVVRTLNDRSSIVMGEPISQSSSNSQ

• Structural information:
  • Protein Domains: (605..66-)
    (/note="KH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00117-)
    (679..75-)
    (/note="S1-motif)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00180"-)
  • Interpro: IPR001247  IPR015847  IPR036345  IPR004087  IPR004088   IPR036612  IPR012340  IPR012162  IPR027408  IPR015848  IPR036456  IPR020568  IPR022967  IPR003029  
  • Prosite: PS50084 PS50126
  • PDB: 3U1K 5ZF6
  • PDBsum: 3U1K 5ZF6
  • DIP: 50226
  • STRING: ENSP00000400646
• Other Databases: GeneCards:  PNPT1  Malacards:  PNPT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006401	RNA catabolic process	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0000963	mitochondrial RNA processing	IBA	biological process
GO:0000957	mitochondrial RNA catabolic process	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0004654	polyribonucleotide nucleotidyltransferase activity	IBA	molecular function
GO:0000965	mitochondrial RNA 3'-end processing	IBA	biological process
GO:0000958	mitochondrial mRNA catabolic process	IBA	biological process
GO:0000175	3'-5'-exoribonuclease activity	IBA	molecular function
GO:0071042	nuclear polyadenylation-dependent mRNA catabolic process	IDA	biological process
GO:0070207	protein homotrimerization	IDA	biological process
GO:0070207	protein homotrimerization	IDA	biological process
GO:0043631	RNA polyadenylation	IDA	biological process
GO:0035927	RNA import into mitochondrion	IDA	biological process
GO:0035198	miRNA binding	IDA	molecular function
GO:0034599	cellular response to oxidative stress	IDA	biological process
GO:0034046	poly(G) binding	IDA	molecular function
GO:0006401	RNA catabolic process	IDA	biological process
GO:0000962	positive regulation of mitochondrial RNA catabolic process	IDA	biological process
GO:0000957	mitochondrial RNA catabolic process	IDA	biological process
GO:2000772	regulation of cellular senescence	IDA	biological process
GO:2000627	positive regulation of miRNA catabolic process	IDA	biological process
GO:0071850	mitotic cell cycle arrest	IDA	biological process
GO:0051260	protein homooligomerization	IDA	biological process
GO:0045926	negative regulation of growth	IDA	biological process
GO:0045025	mitochondrial degradosome	IDA	cellular component
GO:0035928	rRNA import into mitochondrion	IDA	biological process
GO:0035458	cellular response to interferon-beta	IDA	biological process
GO:0008266	poly(U) RNA binding	IDA	molecular function
GO:0006402	mRNA catabolic process	IDA	biological process
GO:0006402	mRNA catabolic process	IDA	biological process
GO:0005758	mitochondrial intermembrane space	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0004654	polyribonucleotide nucleotidyltransferase activity	IDA	molecular function
GO:0000958	mitochondrial mRNA catabolic process	IDA	biological process
GO:0000175	3'-5'-exoribonuclease activity	IDA	molecular function
GO:0097222	mitochondrial mRNA polyadenylation	IMP	biological process
GO:0070584	mitochondrion morphogenesis	ISS	biological process
GO:0061014	positive regulation of mRNA catabolic process	IMP	biological process
GO:0043457	regulation of cellular respiration	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000965	mitochondrial RNA 3'-end processing	IMP	biological process
GO:0000964	mitochondrial RNA 5'-end processing	IMP	biological process
GO:0006396	RNA processing	IEA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0004654	polyribonucleotide nucleotidyltransferase activity	IEA	molecular function
GO:0006402	mRNA catabolic process	IEA	biological process
GO:0004518	nuclease activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process
GO:0004527	exonuclease activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0004654	polyribonucleotide nucleotidyltransferase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043457	regulation of cellular respiration	IEA	biological process
GO:0005758	mitochondrial intermembrane space	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0000958	mitochondrial mRNA catabolic process	IEA	biological process
GO:0097421	liver regeneration	IEA	biological process
GO:0061014	positive regulation of mRNA catabolic process	IEA	biological process
GO:0060416	response to growth hormone	IEA	biological process
GO:0051591	response to cAMP	IEA	biological process
GO:0042788	polysomal ribosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0004654	polyribonucleotide nucleotidyltransferase activity	IEA	molecular function
GO:0070584	mitochondrion morphogenesis	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005758	mitochondrial intermembrane space	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090503	RNA phosphodiester bond hydrolysis, exonucleolytic	IEA	biological process
GO:0090503	RNA phosphodiester bond hydrolysis, exonucleolytic	IEA	biological process
GO:0045025	mitochondrial degradosome	IDA	cellular component
GO:0000962	positive regulation of mitochondrial RNA catabolic process	IDA	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03018	RNA degradation

Diseases

Associated diseases	References
Combined oxidative phosphorylation deficiency	KEGG:H00891
Combined oxidative phosphorylation deficiency	KEGG:H00891
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)