PNKP Antibody – Goat Polyclonal

This locus 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.[provided by RefSeq, Sep 2010]

Pnk1: polynucleotide kinase 3'-phosphatase. May be involved in double-strand break repair by non-homologous end joining. Required for normal response to DNA damage by gamma-radiation or camptothecin in S. pombe.

Protein type: Phosphatase (non-protein); EC 2.7.1.78; DNA-binding; EC 3.1.3.32; Kinase, other

Chromosomal Location of Human Ortholog: 19q13.3-q13.4

Cellular Component: membrane; nucleolus; nucleoplasm; nucleus

Molecular Function: ATP binding; ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity; damaged DNA binding; double-stranded DNA binding; endonuclease activity; nucleotide kinase activity; polynucleotide 3'-phosphatase activity; protein binding; purine nucleotide binding

Biological Process: dephosphorylation; DNA damage response, detection of DNA damage; DNA repair; DNA-dependent DNA replication; nucleotide phosphorylation; nucleotide-excision repair, DNA damage removal; positive regulation of telomerase activity; positive regulation of telomere maintenance via telomerase; response to oxidative stress; response to radiation

Disease: Ataxia-oculomotor Apraxia 4; Microcephaly, Seizures, And Developmental Delay