InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: PNKP

Summary

InnateDB Gene

IDBG-63659.6

Last Modified

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

Gene Symbol

PNKP

Gene Name

polynucleotide kinase 3'-phosphatase

Synonyms

EIEE10; MCSZ; PNK

Species

Homo sapiens

Ensembl Gene

ENSG00000039650

Encoded Proteins

IDBP-63661

polynucleotide kinase 3'-phosphatase

IDBP-764062

IDBP-762118

IDBP-765749

IDBP-762805

IDBP-766127

IDBP-763117

IDBP-762775

IDBP-766267

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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]
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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 19:49861204-49867909

Strand

Reverse strand

Band

q13.33

Transcripts

ENST00000322344	ENSP00000323511
ENST00000593706
ENST00000599454
ENST00000600910	ENSP00000473137
ENST00000599543	ENSP00000469848
ENST00000595792
ENST00000601816
ENST00000600573	ENSP00000469826
ENST00000593946	ENSP00000468896
ENST00000595081
ENST00000596014	ENSP00000472300
ENST00000594661
ENST00000596726	ENSP00000470887
ENST00000597965	ENSP00000471097
ENST00000598020	ENSP00000470346

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

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000002963

View Gene Order

ENSBTAG00000001834

Not yet available

Pathways

NETPATH

REACTOME

KEGG

INOH

PID NCI

dnapk_pathway

DNA-PK pathway in nonhomologous end joining

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.78016

RefSeq

NM_007254

HUGO

OMIM

CCDS

CCDS12783

HPRD

09284

IMGT

EMBL

GenPept

RNA Seq Atlas