Free for academic non-profit institutions. Other users need a Commercial license
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]
PNKP (Polynucleotide Kinase 3'-Phosphatase) is a Protein Coding gene. Diseases associated with PNKP include Ataxia-Oculomotor Apraxia 4 and Microcephaly, Seizures, And Developmental Delay. Among its related pathways are Telomere C-strand (Lagging Strand) Synthesis and Chks in Checkpoint Regulation. Gene Ontology (GO) annotations related to this gene include double-stranded DNA binding and endonuclease activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003684 | damaged DNA binding | NAS | 10446193 |
GO:0003690 | double-stranded DNA binding | IBA,TAS | 10446193 |
GO:0003824 | catalytic activity | IEA | -- |
GO:0004519 | endonuclease activity | NAS | 10446192 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA,IDA | 10446193 |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005730 | nucleolus | IDA | -- |
GO:0005739 | mitochondrion | IEA | -- |
GO:0016020 | membrane | HDA | 19946888 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Telomere C-strand (Lagging Strand) Synthesis | ||
2 | DNA Damage | ||
3 | Chks in Checkpoint Regulation |
DNA Repair Mechanisms
.31
|
|
4 | DNA Double-Strand Break Repair |
.53
|
|
5 | DNA damage_NHEJ mechanisms of DSBs repair |
DNA damage_NHEJ mechanisms of DSBs repair
-
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000718 | nucleotide-excision repair, DNA damage removal | NAS | 10446193 |
GO:0006261 | DNA-dependent DNA replication | NAS | 10446192 |
GO:0006281 | DNA repair | IEA,IGI | 10446192 |
GO:0006974 | cellular response to DNA damage stimulus | IEA | -- |
GO:0006979 | response to oxidative stress | IDA | 10446192 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
||
Phosphate |
|
14066-19-4, 14265-44-2 |
|
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | · | 4d | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - |
ExUns: | 17 | ^ | 18 |
---|---|---|---|
SP1: | |||
SP2: | |||
SP3: | |||
SP4: | |||
SP5: | |||
SP6: | |||
SP7: | |||
SP8: | |||
SP9: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PNKP 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PNKP 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PNKP 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pnkp 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Pnkp 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PNKP 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PNKP 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PNKP 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pnkp 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.13565 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pnkp 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5541 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG9601 30 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | F21D5.5 30 31 32 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | HNT3 31 |
|
OneToMany | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU08151 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | pnk1 30 |
|
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
206383 | Uncertain Significance: Early infantile epileptic encephalopathy 12 | 49,865,350(-) | G/A | MISSENSE_VARIANT | |
638903 | Uncertain Significance: Early infantile epileptic encephalopathy 12 | 49,867,144(-) | G/C | MISSENSE_VARIANT | |
640621 | Uncertain Significance: Early infantile epileptic encephalopathy 12 | 49,862,729(-) | CGTCGTT/C | INFRAME_DELETION | |
641270 | Uncertain Significance: Early infantile epileptic encephalopathy 12 | 49,865,312(-) | G/A | MISSENSE_VARIANT | |
642167 | Uncertain Significance: Early infantile epileptic encephalopathy 12 | 49,861,851(-) | T/G | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv53n68 | CNV | loss | 17160897 |
dgv54n68 | CNV | loss | 17160897 |
esv2677406 | CNV | deletion | 23128226 |
esv3644628 | CNV | gain | 21293372 |
esv3644629 | CNV | loss | 21293372 |
nsv1140251 | OTHER | inversion | 24896259 |
nsv524068 | CNV | loss | 19592680 |
nsv526372 | CNV | loss | 19592680 |
nsv953600 | CNV | deletion | 24416366 |
nsv9739 | CNV | gain+loss | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ataxia-oculomotor apraxia 4 |
|
|
microcephaly, seizures, and developmental delay |
|
|
charcot-marie-tooth disease, axonal, type 2b2 |
|
|
epileptic encephalopathy, early infantile, 12 |
|
|
ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
|