Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 11284
MIM: 605610
HGNC: 9154
Ensembl: ENSG00000039650
Variants:
dbSNP: 11284
ClinVar: 11284
TCGA: ENSG00000039650
COSMIC: PNKP
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38224455 | 2024 | Site-specific acetylation of polynucleotide kinase 3'-phosphatase regulates its distinct role in DNA repair pathways. | 1 |
| 38224455 | 2024 | Site-specific acetylation of polynucleotide kinase 3'-phosphatase regulates its distinct role in DNA repair pathways. | 1 |
| 37061005 | 2023 | Functional analysis of a conserved site mutation in the DNA end processing enzyme PNKP leading to ataxia with oculomotor apraxia type 4 in humans. | 3 |
| 37061005 | 2023 | Functional analysis of a conserved site mutation in the DNA end processing enzyme PNKP leading to ataxia with oculomotor apraxia type 4 in humans. | 3 |
| 35412344 | 2022 | Zika Virus Induces Mitotic Catastrophe in Human Neural Progenitors by Triggering Unscheduled Mitotic Entry in the Presence of DNA Damage While Functionally Depleting Nuclear PNKP. | 7 |
| 35412344 | 2022 | Zika Virus Induces Mitotic Catastrophe in Human Neural Progenitors by Triggering Unscheduled Mitotic Entry in the Presence of DNA Damage While Functionally Depleting Nuclear PNKP. | 7 |
| 33220551 | 2021 | The FHA domain of PNKP is essential for its recruitment to DNA damage sites and maintenance of genome stability. | 8 |
| 33468657 | 2021 | PIAS1 modulates striatal transcription, DNA damage repair, and SUMOylation with relevance to Huntington's disease. | 20 |
| 34247972 | 2021 | Characteristics of epilepsy secondary to mutations in the PNKP gene. | 0 |
| 33220551 | 2021 | The FHA domain of PNKP is essential for its recruitment to DNA damage sites and maintenance of genome stability. | 8 |
| 33468657 | 2021 | PIAS1 modulates striatal transcription, DNA damage repair, and SUMOylation with relevance to Huntington's disease. | 20 |
| 34247972 | 2021 | Characteristics of epilepsy secondary to mutations in the PNKP gene. | 0 |
| 32205441 | 2020 | Deficiency in classical nonhomologous end-joining-mediated repair of transcribed genes is linked to SCA3 pathogenesis. | 18 |
| 32504494 | 2020 | Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair. | 14 |
| 32980744 | 2020 | The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort. | 2 |
Citation
Dessen P
PNKP (polynucleotide kinase 3-phosphatase)
Atlas Genet Cytogenet Oncol Haematol. 2004-04-01
Online version: http://atlasgeneticsoncology.org/gene/41764/pnkp
