We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Enzymes Human disease related genes Metabolic proteins Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
19
Cytoband
q13.33
Chromosome location (bp)
49859882 - 49878351
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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 1,2,3,4,5. 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 6,7....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
DNA damage, DNA repair
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Transferases Hydrolases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0000718[nucleotide-excision repair, DNA damage removal] GO:0003684[damaged DNA binding] GO:0003690[double-stranded DNA binding] GO:0003824[catalytic activity] GO:0004519[endonuclease activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005730[nucleolus] GO:0005739[mitochondrion] GO:0006261[DNA-templated DNA replication] GO:0006281[DNA repair] GO:0006287[base-excision repair, gap-filling] GO:0006303[double-strand break repair via nonhomologous end joining] GO:0006974[cellular response to DNA damage stimulus] GO:0006979[response to oxidative stress] GO:0008152[metabolic process] GO:0009314[response to radiation] GO:0010836[negative regulation of protein ADP-ribosylation] GO:0016020[membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0016787[hydrolase activity] GO:0017076[purine nucleotide binding] GO:0032212[positive regulation of telomere maintenance via telomerase] GO:0035861[site of double-strand break] GO:0046403[polynucleotide 3'-phosphatase activity] GO:0046404[polydeoxyribonucleotide 5'-hydroxyl-kinase activity] GO:0046939[nucleotide phosphorylation] GO:0051103[DNA ligation involved in DNA repair] GO:0051734[polynucleotide kinase activity] GO:0051973[positive regulation of telomerase activity] GO:0090305[nucleic acid phosphodiester bond hydrolysis] GO:1904355[positive regulation of telomere capping] GO:2001034[positive regulation of double-strand break repair via nonhomologous end joining]
Enzymes ENZYME proteins Transferases Hydrolases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0000718[nucleotide-excision repair, DNA damage removal] GO:0003684[damaged DNA binding] GO:0003690[double-stranded DNA binding] GO:0003824[catalytic activity] GO:0004519[endonuclease activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005730[nucleolus] GO:0006261[DNA-templated DNA replication] GO:0006281[DNA repair] GO:0006287[base-excision repair, gap-filling] GO:0006303[double-strand break repair via nonhomologous end joining] GO:0006974[cellular response to DNA damage stimulus] GO:0006979[response to oxidative stress] GO:0008152[metabolic process] GO:0009314[response to radiation] GO:0010836[negative regulation of protein ADP-ribosylation] GO:0016020[membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0016787[hydrolase activity] GO:0017076[purine nucleotide binding] GO:0032212[positive regulation of telomere maintenance via telomerase] GO:0035861[site of double-strand break] GO:0046403[polynucleotide 3'-phosphatase activity] GO:0046404[polydeoxyribonucleotide 5'-hydroxyl-kinase activity] GO:0046939[nucleotide phosphorylation] GO:0051103[DNA ligation involved in DNA repair] GO:0051734[polynucleotide kinase activity] GO:0051973[positive regulation of telomerase activity] GO:0090305[nucleic acid phosphodiester bond hydrolysis] GO:1904355[positive regulation of telomere capping] GO:2001034[positive regulation of double-strand break repair via nonhomologous end joining]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Metabolic proteins DeepTMHMM predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
