Entity Details

Primary name PNPT1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8TCS8
EntryNamePNPT1_HUMAN
FullNamePolyribonucleotide nucleotidyltransferase 1, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length783
SequenceStatuscomplete
DateCreated2005-05-10
DateModified2021-06-02

Ontological Relatives

GenesPNPT1

GO terms

Show/Hide Table
GOName
GO:0000175 3'-5'-exoribonuclease activity
GO:0000957 mitochondrial RNA catabolic process
GO:0000958 mitochondrial mRNA catabolic process
GO:0000962 positive regulation of mitochondrial RNA catabolic process
GO:0000964 mitochondrial RNA 5'-end processing
GO:0000965 mitochondrial RNA 3'-end processing
GO:0003723 RNA binding
GO:0004654 polyribonucleotide nucleotidyltransferase activity
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005758 mitochondrial intermembrane space
GO:0005759 mitochondrial matrix
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0006401 RNA catabolic process
GO:0006402 mRNA catabolic process
GO:0008266 poly(U) RNA binding
GO:0034046 poly(G) binding
GO:0034599 cellular response to oxidative stress
GO:0035198 miRNA binding
GO:0035458 cellular response to interferon-beta
GO:0035927 RNA import into mitochondrion
GO:0035928 rRNA import into mitochondrion
GO:0042788 polysomal ribosome
GO:0043457 regulation of cellular respiration
GO:0043631 RNA polyadenylation
GO:0045025 mitochondrial degradosome
GO:0045926 negative regulation of growth
GO:0051260 protein homooligomerization
GO:0051591 response to cAMP
GO:0060416 response to growth hormone
GO:0061014 positive regulation of mRNA catabolic process
GO:0070207 protein homotrimerization
GO:0070584 mitochondrion morphogenesis
GO:0071042 nuclear polyadenylation-dependent mRNA catabolic process
GO:0097222 mitochondrial mRNA polyadenylation
GO:0097421 liver regeneration
GO:2000627 positive regulation of miRNA catabolic process
GO:2000772 regulation of cellular senescence

Subcellular Location

Show/Hide Table
Subcellular Location
Cytoplasm
Mitochondrion intermembrane space
Mitochondrion matrix

Domains

Show/Hide Table
DomainNameCategoryType
IPR001247 Exoribonuclease, phosphorolytic domain 1DomainDomain
IPR003029 S1 domainDomainDomain
IPR004087 K Homology domainDomainDomain
IPR004088 K Homology domain, type 1DomainDomain
IPR012162 Polyribonucleotide nucleotidyltransferaseFamilyFamily
IPR012340 Nucleic acid-binding, OB-foldFamilyHomologous superfamily
IPR015847 Exoribonuclease, phosphorolytic domain 2DomainDomain
IPR015848 Polyribonucleotide nucleotidyltransferase, RNA-binding domainDomainDomain
IPR020568 Ribosomal protein S5 domain 2-type foldFamilyHomologous superfamily
IPR022967 RNA-binding domain, S1DomainDomain
IPR027408 PNPase/RNase PH domain superfamilyFamilyHomologous superfamily
IPR036345 Exoribonuclease, PH domain 2 superfamilyFamilyHomologous superfamily
IPR036456 Polyribonucleotide nucleotidyltransferase, RNA-binding domain superfamilyFamilyHomologous superfamily
IPR036612 K Homology domain, type 1 superfamilyFamilyHomologous superfamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
614932 OMIMCombined oxidative phosphorylation deficiency 13 (COXPD13)A mitochondrial disorder characterized by early onset severe encephalomyopathy, dystonia, choreoathetosis, bucofacial dyskinesias and combined mitochondrial respiratory chain deficiency. Nerve conductions velocities are decreased. Levels of plasma and cerebrospinal fluid lactate are increased. The disease is caused by variants affecting the gene represented in this entry.
614934 OMIMDeafness, autosomal recessive, 70 (DFNB70)A form of non-syndromic deafness characterized by severe, bilateral hearing impairment with prelingual onset, resulting in inability to acquire normal speech. The disease is caused by variants affecting the gene represented in this entry.