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Literature summary for 2.7.1.78 extracted from

  • Chatterjee, A.; Saha, S.; Chakraborty, A.; Silva-Fernandes, A.; Mandal, S.M.; Neves-Carvalho, A.; Liu, Y.; Pandita, R.K.; Hegde, M.L.; Hegde, P.M.; Boldogh, I.; Ashizawa, T.; Koeppen, A.H.; Pandita, T.K.; Maciel, P.; Sarkar, P.S.; Hazra, T.K.
    The role of the mammalian DNA end-processing enzyme polynucleotide kinase 3-phosphatase in spinocerebellar ataxia type 3 pathogenesis (2015), PLoS Genet., 11, e1004749 .
    View publication on PubMedView publication on EuropePMC
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Application

Application Comment Organism
medicine human Machado-Joseph disease patients' brain samples show a significant accumulation of DNA strand breaks. PNKP stably associates with ataxin-3, a polyglutamine repeat-containing protein mutated in spinocerebellar ataxia type 3, i.e. Machado-Joseph disease Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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Source Tissue

Source Tissue Comment Organism Textmining
HEK-293 cell
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 Homo sapiens
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SH-SY5Y cell
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 Homo sapiens
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General Information

General Information Comment Organism
physiological function PNKP stably associates with ataxin-3. Purified wild-type ataxin-3 stimulates, and the mutant form specifically inhibits, PNKP's 3'-phosphatase activity in vitro. ATXN3-deficient cells also show decreased PNKP activity Homo sapiens