EC Number |
General Information |
Reference |
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2.7.1.78 | malfunction |
depletion of Nol9 leads to a severe impairment of ribosome biogenesis. Upon Nol9 knockdown, specific maturation defect at the 5' end of the predominant 5.8S short-form rRNA (5.8SS) occur, possibly due to the Nol9 requirement for 5'>3' exonucleolytic trimming |
722115 |
2.7.1.78 | malfunction |
knockdown of polynucleotide kinase and aprataxin-like forkhead-associated using siRNA reduces rejoining of two incompatible I-SceI-generated DNA ends by 50% |
722727 |
2.7.1.78 | malfunction |
mutations lead to a loss of enzyme interaction with the tRNA splicing endonuclease complex, largely reduced pretRNA cleavage activity, and accumulation of linear tRNA introns. The affected individuals develop severe motor-sensory defects, cortical dysgenesis, and microcephaly |
729562 |
2.7.1.78 | malfunction |
Pnk1 deletion in fission yeast renders cells sensitive to camptothecin |
716975 |
2.7.1.78 | malfunction |
PNKP depletion in human cells renders cells sensitive to camptothecin. A small molecule inhibitor of PNKP phosphatase activity enhances the sensitivity of cells to IR and camptothecin. Enzyme mutational defects can cause neurological disorders with various symptoms, e.g. a severe neurological autosomal recessive disease characterized by microcephaly, intractable seizures and developmental delay |
716975 |
2.7.1.78 | malfunction |
polynucleotide kinase Grc3 depletion results in rRNA processing defects |
739186 |
2.7.1.78 | malfunction |
the lack of CLP1 kinase activity leads to progressive motor neuron loss and accumulation of novel 5' leader-5' exon tRNA fragments |
729174 |
2.7.1.78 | metabolism |
polynucleotide 5-kinase Nol9 is involved in ribosomal RNA processing |
722115 |
2.7.1.78 | metabolism |
the enzyme is part of the Pnkp-Hen1 RNA repair pathway, overview |
723764 |
2.7.1.78 | metabolism |
the enzyme is required for 60S ribosomal particles synthesis |
739186 |