PNKP

PNKP represents a gene involved in DNA repair. In response to ionizing radiation or oxidative damage, the protein encoded by this locus catalyzes 5' phosphorylation and 3' dephosphorylation of nucleic acids. Mutations at this locus have been associated with microcephaly, seizures, and developmental delay.

Polynucleotide Kinase 3'-Phosphatase

Plays a key role in the repair of DNA damage, functioning as part of both the non-homologous end-joining (NHEJ) and base excision repair (BER) pathways (PubMed:10446192, PubMed:10446193, PubMed:15385968, PubMed:20852255, PubMed:28453785).
Through its two catalytic activities, PNK ensures that DNA termini are compatible with extension and ligation by either removing 3'-phosphates from, or by phosphorylating 5'-hydroxyl groups on, the ribose sugar of the DNA backbone (PubMed:10446192, PubMed:10446193).

Base-excision repair, gap-fillingTAS:Reactome
DNA ligation involved in DNA repairManual Assertion Based On ExperimentIDA:UniProtKB
DNA repairManual Assertion Based On ExperimentIGI:UniProtKB
DNA-templated DNA replication1 PublicationNAS:UniProtKB
Double-strand break repair via nonhomologous end joiningManual Assertion Based On ExperimentIDA:UniProtKB
Negative regulation of protein ADP-ribosylationManual Assertion Based On ExperimentIMP:UniProtKB
Nucleotide phosphorylationManual Assertion Based On ExperimentIDA:UniProtKB
Nucleotide-excision repair, DNA damage removal1 PublicationNAS:UniProtKB
Positive regulation of double-strand break repair via nonhomologous end joiningManual Assertion Based On ExperimentIMP:CACAO
Positive regulation of telomerase activityManual Assertion Based On ExperimentIMP:BHF-UCL
Positive regulation of telomere cappingManual Assertion Based On ExperimentIMP:BHF-UCL
Positive regulation of telomere maintenance via telomeraseManual Assertion Based On ExperimentIMP:BHF-UCL
Response to oxidative stressManual Assertion Based On ExperimentIDA:UniProtKB
Response to radiationManual Assertion Based On ExperimentTAS:UniProtKB

Nucleus
Chromosome
Localizes to site of double-strand breaks.

Microcephaly, seizures, and developmental delay (MCSZ):
An autosomal recessive neurodevelopmental disorder characterized by infantile-onset seizures, microcephaly, severe intellectual disability and delayed motor milestones with absent speech or only achieving a few words. Most patients also have behavioral problems with hyperactivity. Microcephaly is progressive and without neuronal migration or structural abnormalities, consistent with primary microcephaly.
Ataxia-oculomotor apraxia 4 (AOA4):
An autosomal recessive disease characterized by cerebellar ataxia, oculomotor apraxia, areflexia and peripheral neuropathy.