PNKP - PNK Antibody – Rabbit 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: Kinase, other; EC 2.7.1.78; Phosphatase (non-protein); EC 3.1.3.32; DNA-binding

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

Cellular Component: nucleoplasm; membrane; nucleolus; nucleus

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

Biological Process: response to radiation; dephosphorylation; DNA damage response, detection of DNA damage; nucleotide-excision repair, DNA damage removal; response to oxidative stress; DNA repair; DNA-dependent DNA replication; nucleotide phosphorylation

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