PNPT1 ist ein Gen, das durch das Symbol PNPT1 kodiert wird. Im Allgemeinen auch bezeichnet als: Polyribonucleotide nucleotidyltransferase 1, mitochondrial; 3'-5' RNA exonuclease OLD35; PNPase old-35; Polynucleotide phosphorylase 1; PNPase 1; Polynucleotide phosphorylase-like protein; PNPASE. PNPT1 hat eine Masse von 85.95kDa, eine Aminosäurelänge von 783, und ist an folgenden Krankheiten beteiligt: Combined oxidative phosphorylation deficiency 13; Deafness, autosomal recessive, 70.
Wir bieten 6 antikörper gegen PNPT1, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC, ELISA and ICC/IF mit Proben abgeleitet von Human und Maus.
Gen- und Proteininformationen
UniProt Zusammenfassung
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. Plays also 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.
Entrez Zusammenfassung
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.
Rolle bei Krankheiten
Combined oxidative phosphorylation deficiency 13: 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: A form of non-syndromic deafness characterized by severe, bilateral hearing impairment with prelingual onset, resulting in inability to acquire normal speech.
Sequenzähnlichkeiten
Belongs to the polyribonucleotide nucleotidyltransferase family.
Zellort
Cytoplasm. Mitochondrion matrix. Mitochondrion intermembrane space.
