Recombinant Human Bifunctional polynucleotide phosphatase/kinase (PNKP)

Uniprot Id

Q96T60

Target Species

Human

Target Name

PNKP

Target Full Name

Bifunctional polynucleotide phosphatase/kinase

Target Function

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. 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.

Target Involvement

Microcephaly, seizures, and developmental delay (MCSZ); Ataxia-oculomotor apraxia 4 (AOA4)

Target Subcellular Location

Nucleus. Chromosome.

Target Protein Families

DNA 3' phosphatase family

Target Tissue Specificity

Expressed in many tissues with highest expression in spleen and testis, and lowest expression in small intestine. Expressed in higher amount in pancreas, heart and kidney and at lower levels in brain, lung and liver.

Target Research Area

Epigenetics and Nuclear Signaling

Target Synonyms

2''(3'')-polynucleotidase; 2'(3')-polynucleotidase; Bifunctional polynucleotide phosphatase/kinase; DEM 1; DEM1; DNA 5' kinase/3' phosphatase; DNA 5''-kinase/3''-phosphatase; EIEE10; Homo sapiens polynucleotide kinase 3' phosphatase (PNKP); MCSZ; PNK 1; PNK1; Pnkp; PNKP DNA kinase; PNKP_HUMAN; Polynucleotide 3'-phosphatase; Polynucleotide 5' hydroxyl kinase; Polynucleotide 5''-hydroxyl-kinase; Polynucleotide kinase 3 prime phosphatase; Polynucleotide kinase 3' phosphatase; Polynucleotide Kinase; Polynucleotide kinase-3''-phosphatase

Target Background

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.