PNKP information

PNKP
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2BRF, 2W3O
Identifiers
Aliases	PNKP, EIEE10, MCSZ, PNK, AOA4, polynucleotide kinase 3'-phosphatase, CMT2B2
External IDs	OMIM: 605610; MGI: 1891698; HomoloGene: 5247; GeneCards: PNKP; OMA:PNKP - orthologs
Gene location (Human)
Chr.	Chromosome 19 (human)
End	49,878,351 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	44,512,416 bp
RNA expression pattern
	Top expressed in
	right uterine tube; ; anterior pituitary; ; right lobe of thyroid gland; ; left adrenal gland; ; left lobe of thyroid gland; ; left uterine tube; ; sural nerve; ; body of stomach; ; spleen; ; canal of the cervix;
	Top expressed in
	spermatocyte; ; bone marrow; ; thymus; ; lip; ; yolk sac; ; superior frontal gyrus; ; proximal tubule; ; ankle joint; ; left lobe of liver; ; blood;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	transferase activity; nucleotide binding; polydeoxyribonucleotide 5'-hydroxyl-kinase activity; kinase activity; damaged DNA binding; protein binding; catalytic activity; purine nucleotide binding; endonuclease activity; double-stranded DNA binding; hydrolase activity; ATP binding; polynucleotide 3'-phosphatase activity; nucleoside monophosphate kinase activity; polynucleotide kinase activity;
Cellular component	membrane; nucleoplasm; nucleolus; nucleus; mitochondrion;
Biological process	DNA-dependent DNA replication; nucleotide-excision repair, DNA damage removal; positive regulation of telomere capping; phosphorylation; positive regulation of telomere maintenance via telomerase; response to oxidative stress; cellular response to DNA damage stimulus; nucleotide phosphorylation; positive regulation of telomerase activity; response to radiation; metabolism; dephosphorylation; polynucleotide 3' dephosphorylation; DNA repair; nucleic acid phosphodiester bond hydrolysis; negative regulation of protein ADP-ribosylation; nucleoside monophosphate phosphorylation;
	Sources:Amigo / QuickGO
Orthologs
	11284
	59047
	ENSG00000039650
	ENSMUSG00000002963
	Q96T60
	Q9JLV6
	NM_007254
	NM_001290764; NM_001290766; NM_001290767; NM_021549
	NP_009185
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

Bifunctional polynucleotide phosphatase/kinase is an enzyme that in humans is encoded by the PNKP gene.^[5]^[6]^[7] A detailed structural study of the crystallized mouse protein examined both the 5´-polynucleotide kinase and 3’-polynucleotide phosphatase activities.^[8] Additional features of the peptide sequence include a forkhead association (FHA) domain, ATP binding site and nuclear and mitochondrial localization sequences.

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000039650 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000002963 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Jilani A, Ramotar D, Slack C, Ong C, Yang XM, Scherer SW, Lasko DD (September 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 (34): 24176–86. doi:10.1074/jbc.274.34.24176. PMID 10446192.
^ Karimi-Busheri F, Daly G, Robins P, Canas B, Pappin DJ, Sgouros J, Miller GG, Fakhrai H, Davis EM, Le Beau MM, Weinfeld M (September 1999). "Molecular characterization of a human DNA kinase". J. Biol. Chem. 274 (34): 24187–94. doi:10.1074/jbc.274.34.24187. PMID 10446193.
^ "Entrez Gene: PNKP polynucleotide kinase 3'-phosphatase".
^ Garces, Fernando; Pearl, Laurence H.; Oliver, Antony W. (November 2011). "The Structural Basis for Substrate Recognition by Mammalian Polynucleotide Kinase 3′ Phosphatase". Molecular Cell. 44 (3): 385–396. doi:10.1016/j.molcel.2011.08.036. PMC 4820033. PMID 22055185.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000039650 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000002963 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10446192-5] Jilani A, Ramotar D, Slack C, Ong C, Yang XM, Scherer SW, Lasko DD (September 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 (34): 24176–86. doi:10.1074/jbc.274.34.24176. PMID 10446192.

[pmid10446193-6] Karimi-Busheri F, Daly G, Robins P, Canas B, Pappin DJ, Sgouros J, Miller GG, Fakhrai H, Davis EM, Le Beau MM, Weinfeld M (September 1999). "Molecular characterization of a human DNA kinase". J. Biol. Chem. 274 (34): 24187–94. doi:10.1074/jbc.274.34.24187. PMID 10446193.

[entrez-7] "Entrez Gene: PNKP polynucleotide kinase 3'-phosphatase".

[8] Garces, Fernando; Pearl, Laurence H.; Oliver, Antony W. (November 2011). "The Structural Basis for Substrate Recognition by Mammalian Polynucleotide Kinase 3′ Phosphatase". Molecular Cell. 44 (3): 385–396. doi:10.1016/j.molcel.2011.08.036. PMC 4820033. PMID 22055185.

PNKP information

and 11 Related for: PNKP information

PNKP

Microcephaly

Base excision repair

ZTTK syndrome

Ohtahara syndrome

DNA ligase 3

XRCC1

DNA polymerase beta

Nuclear mitochondrial DNA segment

List of OMIM disorder codes

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