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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Mus musculus | Q9JLV6 | bifunctional polynucleotide phosphatase/kinase, cf. EC 2.7.1.78 | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
HEK-293 cell | - |
Homo sapiens | - |
SH-SY5Y cell | - |
Homo sapiens | - |
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 |
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 |