Gene table of PNKP : polynucleotide kinase 3'-phosphatase

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PNKP	OMIM link	Number of associated genes	genes
616267	ATAXIA-OCULOMOTOR APRAXIA 4	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	PNKP
PS308350	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	ClinVar, OMIM, HUMSAVAR	link to OMIM	37	KCNT1, EEF1A2, SZT2, ALG13, ST3GAL3, WWOX, ITPA, SIK1, SCN1A, ARHGEF9, GNAO1, TBC1D24, DNM1, SLC35A2, GRIN2B, SLC13A5, SLC25A22, HCN1, KCNB1, STXBP1, SCN9A, PNKP, KCNQ2, SPTAN1, KCNA2, SCN2A, PLCB1, AARS, PCDH19, CDKL5, GABRA1, SLC12A5, DOCK7, ARX, SCN8A, NECAP1, PIGA

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Annotation of the gene PNKP

Associated genes in ENSEMBL

ENSG00000039650

Associated proteins - SwissProt Accession ID

Q96T60

Associated PDB IDs

Cytogenetic Band

19q13.33

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
DNA Repair	R-HSA-73894	5.8
APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway	R-HSA-5649702	10.18
Base Excision Repair	R-HSA-73884	7.85
Resolution of Abasic Sites (AP sites)	R-HSA-73933	7.85

Associated GO terms for Molecular function

GO term	GO ID	GO IC
nucleotide kinase activity	GO:0019201	6.52
phosphatase activity	GO:0016791	4.11
nucleobase-containing compound kinase activity	GO:0019205	5.85
purine ribonucleoside triphosphate binding	GO:0035639	2.22
phosphoric ester hydrolase activity	GO:0042578	3.82
polynucleotide phosphatase activity	GO:0098518	8.35
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
polydeoxyribonucleotide kinase activity	GO:0051733	8.64
polynucleotide 5'-hydroxyl-kinase activity	GO:0051731	8.35
ATP-dependent polynucleotide kinase activity	GO:0051734	8.64
carbohydrate derivative binding	GO:0097367	2.03
nucleotide binding	GO:0000166	1.96
transferase activity	GO:0016740	1.95
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
double-stranded DNA binding	GO:0003690	3.09
ATP binding	GO:0005524	2.43
ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity	GO:0046404	8.64
hydrolase activity	GO:0016787	1.9
polynucleotide 3'-phosphatase activity	GO:0046403	9.05
kinase activity	GO:0016301	2.93
hydrolase activity, acting on ester bonds	GO:0016788	3.1
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
adenyl nucleotide binding	GO:0030554	2.4
nuclease activity	GO:0004518	4.33
endonuclease activity	GO:0004519	4.78
purine ribonucleoside binding	GO:0032550	2.22
phosphotransferase activity, alcohol group as acceptor	GO:0016773	3.08
adenyl ribonucleotide binding	GO:0032559	2.41
protein binding	GO:0005515	0.46
organic cyclic compound binding	GO:0097159	1.05
purine ribonucleotide binding	GO:0032555	2.2
damaged DNA binding	GO:0003684	5.58
ribonucleotide binding	GO:0032553	2.19