PNKP Gene Summary [Human]
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]
Details
| Type | Processed Transcript |
| Official Symbol | PNKP |
| Official Name | polynucleotide kinase 3'-phosphatase [Source:HGNC Symbol;Acc:HGNC:9154] |
| Ensembl ID | ENSG00000039650 |
| Bio databases IDs | |
| Aliases | polynucleotide kinase 3'-phosphatase |
| Synonyms | 1810009G08Rik, AOA4, CMT2B2, EIEE10, MCSZ, PNK, polynucleotide kinase 3'- phosphatase |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PNKP often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- histidinol-phosphate phosphatase family domain
- protein binding activity, bridging
- polynucleotide 3'-phosphatase
- protein binding
- polynucleotide 5'-hydroxyl-kinase
- Polynucleotide kinase 3 phosphatase
- AAA domain
- forkhead associated (FHA) domain superfamily
- kinase
- HAD-superfamily hydrolase, subfamily IIIA
- FHA domain
- double-stranded DNA binding
- DNA 3'-phosphatase
- polynucleotide 5'-kinase 3'-phosphatase
- Haloacid Dehalogenase-like Hydrolases
Pathways
Biological processes and signaling networks where the PNKP gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- early infantile epileptic encephalopathy type 12
- hereditary disorder
- ataxia-oculomotor apraxia type 4
- microcephaly, seizures and developmental delay
- Charcot-Marie-Tooth disease axonal type 2B2
- mental retardation
- ataxia with ocular apraxia 1
role in cell
- damage in
- cell death
- growth
- apoptosis
- production in
- survival
- maintenance
- binding in
- DNA damage response
- replication in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Mitochondria
- nucleoplasm
- perinuclear space
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PNKP gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA repair
- DNA-dependent DNA replication
- response to radiation
- nucleotide-excision repair
- base-excision repair, gap-filling
- double-strand break repair via nonhomologous end joining
- DNA ligation involved in DNA repair
- positive regulation of telomerase activity
- response to oxidative stress
- negative regulation of protein ADP-ribosylation
- positive regulation of telomere maintenance via telomerase
- positive regulation of double-strand break repair via nonhomologous end joining
Cellular Component
Where in the cell the gene product is active
- nucleus
- site of double-strand break
- membrane
- nucleolus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- endonuclease activity
- purine nucleotide binding
- double-stranded DNA binding
- polynucleotide 3'-phosphatase activity
- damaged DNA binding
- ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity