HUMAN:PNKP

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	PNKP
Protein Name(s)	Bifunctional polynucleotide phosphatase/kinase DNA 5'-kinase/3'-phosphatase Polynucleotide kinase-3'-phosphatase Polynucleotide 3'-phosphatase 2'(3')-polynucleotidase Polynucleotide 5'-hydroxyl-kinase
External Links
UniProt	Q96T60
EMBL	AF126486 AF125807 AF120499 AF354258 AY133033 AC018766 BC002519 BC033822
CCDS	CCDS12783.1
RefSeq	NP_009185.2
UniGene	Hs.78016
PDB	2BRF 2W3O
PDBsum	2BRF 2W3O
ProteinModelPortal	Q96T60
SMR	Q96T60
BioGrid	116440
CORUM	Q96T60
IntAct	Q96T60
MINT	Q96T60
STRING	9606.ENSP00000323511
DEPOD	Q96T60
iPTMnet	Q96T60
PhosphoSitePlus	Q96T60
BioMuta	PNKP
DMDM	50401132
EPD	Q96T60
MaxQB	Q96T60
PaxDb	Q96T60
PeptideAtlas	Q96T60
PRIDE	Q96T60
DNASU	11284
Ensembl	ENST00000322344 ENST00000596014
GeneID	11284
KEGG	hsa:11284
UCSC	uc002pqj.4
CTD	11284
DisGeNET	11284
EuPathDB	HostDB:ENSG00000039650.9
GeneCards	PNKP
HGNC	HGNC:9154
HPA	HPA006782
MalaCards	PNKP
MIM	605610 613402 616267
neXtProt	NX_Q96T60
OpenTargets	ENSG00000039650
Orphanet	1934
PharmGKB	PA33477
eggNOG	KOG2134 COG0241
GeneTree	ENSGT00570000079163
HOGENOM	HOG000031466
HOVERGEN	HBG053624
InParanoid	Q96T60
KO	K08073
OMA	YGYRKQF
OrthoDB	EOG091G0A9X
PhylomeDB	Q96T60
TreeFam	TF313738
BRENDA	2.7.1.78 3.1.3.32
Reactome	R-HSA-5649702
SIGNOR	Q96T60
EvolutionaryTrace	Q96T60
GeneWiki	PNKP
GenomeRNAi	11284
PRO	PR:Q96T60
Proteomes	UP000005640
Bgee	ENSG00000039650
CleanEx	HS_PNKP
ExpressionAtlas	Q96T60
Genevisible	Q96T60
GO	GO:0016020 GO:0005739 GO:0005730 GO:0005654 GO:0005634 GO:0005524 GO:0046404 GO:0003684 GO:0003690 GO:0004519 GO:0019201 GO:0046403 GO:0017076 GO:0016311 GO:0098504 GO:0042769 GO:0006281 GO:0006261 GO:0010836 GO:0046939 GO:0000718 GO:0051973 GO:1904355 GO:0032212 GO:0006979 GO:0009314
Gene3D	3.40.50.1000
InterPro	IPR036412 IPR006549 IPR023214 IPR027417 IPR013954 IPR006550 IPR006551 IPR008984
Pfam	PF08645
SUPFAM	SSF49879 SSF52540 SSF56784
TIGRFAMs	TIGR01664 TIGR01662 TIGR01663

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
	GO:2001034	positive regulation of double-strand break repair via nonhomologous end joining	PMID:12032095^[1]	ECO:0000315			P		Figure 6A&B, PNK depleted GM00558 extracts showed similar deficiency as RAD51-depleted extracts in promoting end joining of linear DNA molecules with 5’-OH termini.	complete CACAO 13259
involved_in	GO:0010836	negative regulation of protein ADP-ribosylation	PMID:28002403^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:1904355	positive regulation of telomere capping	PMID:21531765^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	part_of:(GO:0032212) part_of:(GO:0051973)	Seeded From UniProt	complete
involved_in	GO:0032212	positive regulation of telomere maintenance via telomerase	PMID:21531765^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	has_regulation_target:(UniProtKB:O14746)	Seeded From UniProt	complete
involved_in	GO:0051973	positive regulation of telomerase activity	PMID:21531765^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	has_regulation_target:(UniProtKB:O14746)	Seeded From UniProt	complete
part_of	GO:0016020	membrane	PMID:19946888^[4]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0046939	nucleotide phosphorylation	PMID:10446193^[5]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0046404	ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity	PMID:10446193^[5]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0046403	polynucleotide 3'-phosphatase activity	PMID:10446192^[6]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0046403	polynucleotide 3'-phosphatase activity	PMID:10446193^[5]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0042769	DNA damage response, detection of DNA damage	PMID:10446192^[6]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0042769	DNA damage response, detection of DNA damage	PMID:10446193^[5]	ECO:0000303	author statement without traceable support used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0050145	nucleoside monophosphate kinase activity	PMID:10446192^[6]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0050145	nucleoside monophosphate kinase activity	PMID:10446193^[5]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0017076	purine nucleotide binding	PMID:10446193^[5]	ECO:0000303	author statement without traceable support used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0016311	dephosphorylation	PMID:10446193^[5]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0009314	response to radiation	PMID:10446193^[5]	ECO:0000303	author statement without traceable support used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0006979	response to oxidative stress	PMID:10446192^[6]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0006281	DNA repair	PMID:10446192^[6]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:J7Q8E6,UniProtKB:J7QRV0	P		Seeded From UniProt	complete
involved_in	GO:0006261	DNA-dependent DNA replication	PMID:10446192^[6]	ECO:0000303	author statement without traceable support used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:10446193^[5]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0005524	ATP binding	PMID:10446192^[6]	ECO:0000303	author statement without traceable support used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0004519	endonuclease activity	PMID:10446192^[6]	ECO:0000303	author statement without traceable support used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0003684	damaged DNA binding	PMID:10446193^[5]	ECO:0000303	author statement without traceable support used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0000718	nucleotide-excision repair, DNA damage removal	PMID:10446193^[5]	ECO:0000303	author statement without traceable support used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0098504	DNA 3' dephosphorylation involved in DNA repair	PMID:21873635^[7]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000249876 PomBase:SPAC23C11.04c	P		Seeded From UniProt	complete
enables	GO:0050145	nucleoside monophosphate kinase activity	PMID:21873635^[7]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000249876 UniProtKB:Q96T60	F		Seeded From UniProt	complete
involved_in	GO:0046939	nucleotide phosphorylation	PMID:21873635^[7]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000249876 UniProtKB:Q96T60	P		Seeded From UniProt	complete
enables	GO:0046404	ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity	PMID:21873635^[7]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000249876 PomBase:SPAC23C11.04c UniProtKB:Q96T60	F		Seeded From UniProt	complete
enables	GO:0046403	polynucleotide 3'-phosphatase activity	PMID:21873635^[7]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000249876 PomBase:SPAC23C11.04c SGD:S000004765 UniProtKB:Q8ID74 UniProtKB:Q96T60	F		Seeded From UniProt	complete
involved_in	GO:0006281	DNA repair	PMID:21873635^[7]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000249876 UniProtKB:Q96T60	P		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:21873635^[7]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000949279 UniProtKB:Q96T60	C		Seeded From UniProt	complete
enables	GO:0003690	double-stranded DNA binding	PMID:21873635^[7]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000249876 SGD:S000004765 WB:WBGene00009010	F		Seeded From UniProt	complete
part_of	GO:0005730	nucleolus	GO_REF:0000052	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000052	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0046940	nucleoside monophosphate phosphorylation	GO_REF:0000108	ECO:0000364	evidence based on logical inference from manual annotation used in automatic assertion	GO:0050145	P		Seeded From UniProt	complete
involved_in	GO:0046940	nucleoside monophosphate phosphorylation	GO_REF:0000108	ECO:0000364	evidence based on logical inference from manual annotation used in automatic assertion	GO:0050145	P		Seeded From UniProt	complete
involved_in	GO:0046940	nucleoside monophosphate phosphorylation	GO_REF:0000108	ECO:0000364	evidence based on logical inference from manual annotation used in automatic assertion	GO:0050145	P		Seeded From UniProt	complete
involved_in	GO:0090305	nucleic acid phosphodiester bond hydrolysis	GO_REF:0000108	ECO:0000364	evidence based on logical inference from manual annotation used in automatic assertion	GO:0004519	P		Seeded From UniProt	complete
involved_in	GO:0098506	polynucleotide 3' dephosphorylation	GO_REF:0000108	ECO:0000364	evidence based on logical inference from manual annotation used in automatic assertion	GO:0046403	P		Seeded From UniProt	complete
involved_in	GO:0098506	polynucleotide 3' dephosphorylation	GO_REF:0000108	ECO:0000364	evidence based on logical inference from manual annotation used in automatic assertion	GO:0046403	P		Seeded From UniProt	complete
involved_in	GO:0098506	polynucleotide 3' dephosphorylation	GO_REF:0000108	ECO:0000364	evidence based on logical inference from manual annotation used in automatic assertion	GO:0046403	P		Seeded From UniProt	complete
involved_in	GO:0098506	polynucleotide 3' dephosphorylation	GO_REF:0000108	ECO:0000364	evidence based on logical inference from manual annotation used in automatic assertion	GO:0046403	P		Seeded From UniProt	complete
involved_in	GO:0098506	polynucleotide 3' dephosphorylation	GO_REF:0000108	ECO:0000366	evidence based on logical inference from automatic annotation used in automatic assertion	GO:0046403	P		Seeded From UniProt	complete
part_of	GO:0005739	mitochondrion	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:A0A0G2JUH4 ensembl:ENSRNOP00000069099	C		Seeded From UniProt	complete
enables	GO:0046403	polynucleotide 3'-phosphatase activity	GO_REF:0000003	ECO:0000501	evidence used in automatic assertion	EC:3.1.3.32	F		Seeded From UniProt	complete
enables	GO:0051734	ATP-dependent polynucleotide kinase activity	GO_REF:0000003	ECO:0000501	evidence used in automatic assertion	EC:2.7.1.78	F		Seeded From UniProt	complete
enables	GO:0046404	ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity	GO_REF:0000003	ECO:0000501	evidence used in automatic assertion	EC:2.7.1.78	F		Seeded From UniProt	complete
involved_in	GO:0009314	response to radiation	PMID:10446192^[6]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0003690	double-stranded DNA binding	PMID:10446193^[5]	ECO:0000304	author statement supported by traceable reference used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0046403	polynucleotide 3'-phosphatase activity	Reactome:R-HSA-5649705	ECO:0000304	author statement supported by traceable reference used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0005654	nucleoplasm	Reactome:R-HSA-5649734 Reactome:R-HSA-5649726 Reactome:R-HSA-5649724 Reactome:R-HSA-5649723 Reactome:R-HSA-5649705	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0016787	hydrolase activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0378	F		Seeded From UniProt	complete
enables	GO:0003824	catalytic activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0511	F		Seeded From UniProt	complete
involved_in	GO:0008152	metabolic process	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0511	P		Seeded From UniProt	complete
enables	GO:0016301	kinase activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0418	F		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0539 UniProtKB-SubCell:SL-0191	C		Seeded From UniProt	complete
enables	GO:0000166	nucleotide binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0547	F		Seeded From UniProt	complete
enables	GO:0016740	transferase activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0808	F		Seeded From UniProt	complete
involved_in	GO:0006974	cellular response to DNA damage stimulus	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0227	P		Seeded From UniProt	complete
enables	GO:0005524	ATP binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0067	F		Seeded From UniProt	complete
involved_in	GO:0016310	phosphorylation	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0418	P		Seeded From UniProt	complete
involved_in	GO:0006281	DNA repair	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0234	P		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ Chappell, C et al. (2002) Involvement of human polynucleotide kinase in double-strand break repair by non-homologous end joining. EMBO J. 21 2827-32 PubMed GONUTS page
↑ Hoch, NC et al. (2017) XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia. Nature 541 87-91 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 Cerone, MA et al. (2011) High-throughput RNAi screening reveals novel regulators of telomerase. Cancer Res. 71 3328-40 PubMed GONUTS page
↑ Ghosh, D et al. (2010) Defining the membrane proteome of NK cells. J Mass Spectrom 45 1-25 PubMed GONUTS page
↑ ^5.00 ^5.01 ^5.02 ^5.03 ^5.04 ^5.05 ^5.06 ^5.07 ^5.08 ^5.09 ^5.10 ^5.11 Karimi-Busheri, F et al. (1999) Molecular characterization of a human DNA kinase. J. Biol. Chem. 274 24187-94 PubMed GONUTS page
↑ ^6.0 ^6.1 ^6.2 ^6.3 ^6.4 ^6.5 ^6.6 ^6.7 ^6.8 Jilani, A et al. (1999) Molecular cloning of the human gene, PNKP, encoding a polynucleotide kinase 3'-phosphatase and evidence for its role in repair of DNA strand breaks caused by oxidative damage. J. Biol. Chem. 274 24176-86 PubMed GONUTS page
↑ ^7.0 ^7.1 ^7.2 ^7.3 ^7.4 ^7.5 ^7.6 ^7.7 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:12032095-1] Chappell, C et al. (2002) Involvement of human polynucleotide kinase in double-strand break repair by non-homologous end joining. EMBO J. 21 2827-32 PubMed GONUTS page

[PMID:28002403-2] Hoch, NC et al. (2017) XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia. Nature 541 87-91 PubMed GONUTS page

[PMID:21531765-3] 3.0 ^3.1 ^3.2 Cerone, MA et al. (2011) High-throughput RNAi screening reveals novel regulators of telomerase. Cancer Res. 71 3328-40 PubMed GONUTS page

[PMID:19946888-4] Ghosh, D et al. (2010) Defining the membrane proteome of NK cells. J Mass Spectrom 45 1-25 PubMed GONUTS page

[PMID:10446193-5] 5.00 ^5.01 ^5.02 ^5.03 ^5.04 ^5.05 ^5.06 ^5.07 ^5.08 ^5.09 ^5.10 ^5.11 Karimi-Busheri, F et al. (1999) Molecular characterization of a human DNA kinase. J. Biol. Chem. 274 24187-94 PubMed GONUTS page

[PMID:10446192-6] 6.0 ^6.1 ^6.2 ^6.3 ^6.4 ^6.5 ^6.6 ^6.7 ^6.8 Jilani, A et al. (1999) Molecular cloning of the human gene, PNKP, encoding a polynucleotide kinase 3'-phosphatase and evidence for its role in repair of DNA strand breaks caused by oxidative damage. J. Biol. Chem. 274 24176-86 PubMed GONUTS page

[PMID:21873635-7] 7.0 ^7.1 ^7.2 ^7.3 ^7.4 ^7.5 ^7.6 ^7.7 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

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HUMAN:PNKP

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