InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PNKP

Summary

InnateDB Protein

IDBP-63661.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PNKP

Protein Name

polynucleotide kinase 3'-phosphatase

Synonyms

EIEE10; MCSZ; PNK;

Species

Homo sapiens

Ensembl Protein

ENSP00000323511

InnateDB Gene

IDBG-63659 (PNKP)

Protein Structure

UniProt Annotation

Function

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. 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. {ECO:0000269PubMed:10446192}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:10446193}.

Disease Associations

Epileptic encephalopathy, early infantile, 10 (EIEE10) [MIM:613402]: A disease characterized by infantile-onset seizures, microcephaly, severe intellectual disability and delayed motor milestones with absent speech or only achieving a few words. Most patients also have behavioral problems with hyperactivity. Microcephaly is progressive and without neuronal migration or structural abnormalities, consistent with primary microcephaly. {ECO:0000269PubMed:20118933}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in many tissues with highest expression in spleen and testis, and lowest expression in small intestine (PubMed:10446192). Expressed in higher amount in pancreas, heart and kidney and at lower levels in brain, lung and liver (PubMed:10446193). {ECO:0000269PubMed:10446192, ECO:0000269PubMed:10446193}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 63 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	63 [view]
Protein-Protein	60 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003684	damaged DNA binding
GO:0003690	double-stranded DNA binding
GO:0004519	endonuclease activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0017076	purine nucleotide binding
GO:0019201	nucleotide kinase activity
GO:0046403	polynucleotide 3'-phosphatase activity
GO:0046404	ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity

Biological Process

GO:0000718	nucleotide-excision repair, DNA damage removal
GO:0006261	DNA-dependent DNA replication
GO:0006281	DNA repair
GO:0006979	response to oxidative stress
GO:0009314	response to radiation
GO:0016311	dephosphorylation
GO:0042769	DNA damage response, detection of DNA damage
GO:0046939	nucleotide phosphorylation
GO:0090305	nucleic acid phosphodiester bond hydrolysis
GO:0098506	polynucleotide 3' dephosphorylation

Cellular Component

GO:0005634	nucleus
GO:0005730	nucleolus
GO:0016020	membrane

Protein Structure and Domains

PDB ID

InterPro

IPR006549 HAD-superfamily hydrolase,subfamily IIIA
IPR006550 Polynucleotide kinase 3-phosphatase, metazoan
IPR006551 Polynucleotide 3\'-phosphatase
IPR008984 SMAD/FHA domain
IPR013954 Polynucleotide kinase 3 phosphatase
IPR023214 HAD-like domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF08645
PF00702
PF08282
PF13419

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q96T60

PhosphoSite