Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary 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

Application

EC Number Application Comment Organism
2.7.1.78 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
3.1.3.32 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

EC Number Organism UniProt Comment Textmining
2.7.1.78 Homo sapiens
-
-
-
3.1.3.32 Homo sapiens
-
-
-
3.1.3.32 Mus musculus Q9JLV6 bifunctional polynucleotide phosphatase/kinase, cf. EC 2.7.1.78
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.7.1.78 HEK-293 cell
-
 Homo sapiens
-
2.7.1.78 SH-SY5Y cell
-
 Homo sapiens
-
3.1.3.32 HEK-293 cell
-
 Homo sapiens
-
3.1.3.32 SH-SY5Y cell
-
 Homo sapiens
-

General Information

EC Number General Information Comment Organism
2.7.1.78 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
3.1.3.32 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
3.1.3.32 physiological function transgenic mice conditionally expressing the pathological form of human ataxin-3, a polyglutamine repeat-containing protein mutated in spinocerebellar ataxia type 3, also show decreased 3'-phosphatase activity of PNKP, mostly in the deep cerebellar nuclei Mus musculus