PNPT1

PNPT1 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.

Polyribonucleotide Nucleotidyltransferase 1

RNA-binding protein implicated in numerous RNA metabolic processes. Catalyzes the phosphorolysis of single-stranded polyribonucleotides processively in the 3'-to-5' direction. Mitochondrial intermembrane factor with RNA-processing exoribonulease activity. Component of the mitochondrial degradosome (mtEXO) complex, that degrades 3' overhang double-stranded RNA with a 3'-to-5' directionality in an ATP-dependent manner. Involved in the degradation of non-coding mitochondrial transcripts (MT-ncRNA) and tRNA-like molecules (PubMed:29967381).
Required for correct processing and polyadenylation of mitochondrial mRNAs. Plays a role as a cytoplasmic RNA import factor that mediates the translocation of small RNA components, like the 5S RNA, the RNA subunit of ribonuclease P and the mitochondrial RNA-processing (MRP) RNA, into the mitochondrial matrix. Plays a role in mitochondrial morphogenesis and respiration; regulates the expression of the electron transport chain (ETC) components at the mRNA and protein levels. In the cytoplasm, shows a 3'-to-5' exoribonuclease mediating mRNA degradation activity; degrades c-myc mRNA upon treatment with IFNB1/IFN-beta, resulting in a growth arrest in melanoma cells. Regulates the stability of specific mature miRNAs in melanoma cells; specifically and selectively degrades miR-221, preferentially. Also plays a role in RNA cell surveillance by cleaning up oxidized RNAs. Binds to the RNA subunit of ribonuclease P, MRP RNA and miR-221 microRNA.

Cellular response to interferon-betaManual Assertion Based On ExperimentIDA:UniProtKB
Cellular response to oxidative stressManual Assertion Based On ExperimentIDA:UniProtKB
Liver regenerationIEA:Ensembl
Mitochondrial mRNA catabolic processManual Assertion Based On ExperimentIDA:UniProtKB
Mitochondrial mRNA polyadenylationManual Assertion Based On ExperimentIMP:UniProtKB
Mitochondrial RNA 3'-end processingManual Assertion Based On ExperimentIMP:UniProtKB
Mitochondrial RNA 5'-end processingManual Assertion Based On ExperimentIMP:UniProtKB
Mitochondrial RNA catabolic processManual Assertion Based On ExperimentIDA:UniProtKB
Mitochondrion morphogenesisISS:UniProtKB
mRNA catabolic processManual Assertion Based On ExperimentIDA:UniProtKB
Negative regulation of growthManual Assertion Based On ExperimentIDA:UniProtKB
Nuclear polyadenylation-dependent mRNA catabolic processManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of miRNA catabolic processManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of mitochondrial RNA catabolic processManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of mRNA catabolic processManual Assertion Based On ExperimentIMP:UniProtKB
Protein homooligomerizationManual Assertion Based On ExperimentIDA:UniProtKB
Protein homotrimerizationManual Assertion Based On ExperimentIDA:UniProtKB
Regulation of cell cycleManual Assertion Based On ExperimentIDA:UniProtKB
Regulation of cellular respirationISS:UniProtKB
Regulation of cellular senescenceManual Assertion Based On ExperimentIDA:UniProtKB
Response to cAMPIEA:Ensembl
Response to growth hormoneIEA:Ensembl
RNA catabolic processManual Assertion Based On ExperimentIDA:UniProtKB
RNA import into mitochondrionManual Assertion Based On ExperimentIDA:UniProtKB
RNA polyadenylationManual Assertion Based On ExperimentIDA:UniProtKB
rRNA import into mitochondrionManual Assertion Based On ExperimentIDA:UniProtKB

Cytoplasm
Mitochondrion matrix
Mitochondrion intermembrane space

Combined 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.
Deafness, 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.