Entity Details

Primary name PNKP_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96T60
EntryNamePNKP_HUMAN
FullNameBifunctional polynucleotide phosphatase/kinase
TaxID9606
Evidenceevidence at protein level
Length521
SequenceStatuscomplete
DateCreated2004-07-19
DateModified2021-06-02

Ontological Relatives

GenesPNKP

GO terms

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GOName
GO:0000718 nucleotide-excision repair, DNA damage removal
GO:0003684 damaged DNA binding
GO:0003690 double-stranded DNA binding
GO:0004519 endonuclease activity
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005739 mitochondrion
GO:0006261 DNA-dependent DNA replication
GO:0006281 DNA repair
GO:0006287 base-excision repair, gap-filling
GO:0006979 response to oxidative stress
GO:0009314 response to radiation
GO:0010836 negative regulation of protein ADP-ribosylation
GO:0016020 membrane
GO:0016311 dephosphorylation
GO:0017076 purine nucleotide binding
GO:0032212 positive regulation of telomere maintenance via telomerase
GO:0042769 DNA damage response, detection of DNA damage
GO:0046403 polynucleotide 3'-phosphatase activity
GO:0046404 polydeoxyribonucleotide 5'-hydroxyl-kinase activity
GO:0046939 nucleotide phosphorylation
GO:0051973 positive regulation of telomerase activity
GO:1904355 positive regulation of telomere capping
GO:2001034 positive regulation of double-strand break repair via nonhomologous end joining

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR006549 HAD-superfamily hydrolase,subfamily IIIADomainDomain
IPR006550 Bifunctional polynucleotide phosphatase/kinase PNKPFamilyFamily
IPR006551 Polynucleotide 3'-phosphataseDomainDomain
IPR008984 SMAD/FHA domain superfamilyFamilyHomologous superfamily
IPR013954 Polynucleotide kinase 3 phosphataseFamilyFamily
IPR023214 HAD superfamilyFamilyHomologous superfamily
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR036412 HAD-like superfamilyFamilyHomologous superfamily
IPR041388 PNK, FHA domainDomainDomain

Diseases

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Disease IDSourceNameDescription
616267 OMIMAtaxia-oculomotor apraxia 4 (AOA4)An autosomal recessive disease characterized by cerebellar ataxia, oculomotor apraxia, areflexia and peripheral neuropathy. The disease is caused by variants affecting the gene represented in this entry.
613402 OMIMMicrocephaly, seizures, and developmental delay (MCSZ)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

83 interactions

InteractorPartnerSourcesPublicationsLink
PNKP_HUMANXRCC4_HUMANBioGRID, HPRD, IntAct, MINT15385968 17353931 21637298 26186194 28514442 32296183 details
PNKP_HUMANSMAD5_HUMANBioGRID, HPRD, MINT15231748 details
PNKP_HUMANKR412_HUMANBioGRID, HPRD, IntAct16189514 details
PNKP_HUMANMYOZ1_HUMANBioGRID, HPRD, IntAct16189514 details
PNKP_HUMANTRI37_HUMANBioGRID, HPRD, IntAct16189514 32296183 details
PNKP_HUMANMAGAB_HUMANBioGRID, HPRD, IntAct16189514 details
PNKP_HUMANXRCC1_HUMANBioGRID, HPRD, IntAct, MINT11163244 15367657 15385968 17353931 19155274 21637298 26496610 details
PNKP_HUMANDNLI3_HUMANBioGRID, IntAct11163244 17353931 30994454 details
PNKP_HUMANGRAK_HUMANBioGRID, IntAct21988832 details
PNKP_HUMANSUV91_HUMANBioGRID, MINT23455924 details
PNKP_HUMANKDM1A_HUMANBioGRID, MINT23455924 details
PNKP_HUMANZBT14_HUMANBioGRID, IntAct25416956 32296183 details
PNKP_HUMANIKZF1_HUMANBioGRID, IntAct25416956 32296183 details
PNKP_HUMANTNIP1_HUMANBioGRID, IntAct25416956 32296183 details
PNKP_HUMANZN639_HUMANBioGRID, IntAct25416956 32296183 details
PNKP_HUMANDVL3_HUMANBioGRID, IntAct32296183 details
PNKP_HUMANKANK2_HUMANBioGRID, IntAct32296183 details
PNKP_HUMANCAR10_HUMANBioGRID, IntAct32296183 details
PNKP_HUMANPICK1_HUMANBioGRID, IntAct32296183 details
PNKP_HUMANTHAP1_HUMANBioGRID, IntAct32296183 details
PNKP_HUMANKLH12_HUMANBioGRID, IntAct32296183 details
PNKP_HUMANTM239_HUMANBioGRID, IntAct32296183 details
PNKP_HUMANCISD2_HUMANBioGRID, IntAct32296183 details
PNKP_HUMANSYPH_HUMANBioGRID, IntAct32296183 details
PNKP_HUMANFADS6_HUMANBioGRID, IntAct32296183 details
PNKP_HUMANSNG1_HUMANBioGRID, IntAct32296183 details
PNKP_HUMANCOHA1_HUMANBioGRID, IntAct32296183 details
PNKP_HUMANCNTRB_HUMANBioGRID, IntAct32296183 details
PNKP_HUMANCCD14_HUMANBioGRID, IntAct32296183 details
PNKP_HUMANPNMA5_HUMANBioGRID, IntAct32296183 details
PNKP_HUMANSP4_HUMANBioGRID, IntAct32296183 details
PNKP_HUMANPPIP1_HUMANBioGRID, IntAct32296183 details
PNKP_HUMANMSD4_HUMANBioGRID, IntAct32296183 details
PNKP_HUMANCRCM_HUMANBioGRID, IntAct32296183 details
PNKP_HUMANTRBP2_HUMANBioGRID, IntAct32296183 details
PNKP_HUMANKCC2B_HUMANBioGRID, IntAct32296183 details
PNKP_HUMANTBCD1_HUMANBioGRID, IntAct32296183 details
PNKP_HUMANDRC4_HUMANBioGRID, IntAct32296183 details
PNKP_HUMANRPRM_HUMANBioGRID, IntAct32296183 details
PNKP_HUMANMGST2_HUMANBioGRID, IntAct32296183 details
PNKP_HUMANSNX2_HUMANBioGRID, IntAct32296183 details
PNKP_HUMANSFT2A_HUMANBioGRID, IntAct32296183 details
PNKP_HUMANSNG3_HUMANBioGRID, IntAct32296183 details
PNKP_HUMANFLOWR_HUMANBioGRID, IntAct32296183 details
PNKP_HUMANDPOLB_HUMANBioGRID, IntAct11163244 26186194 28514442 details
PNKP_HUMANCCD43_HUMANBioGRID, IntAct26186194 28514442 32296183 details
PNKP_HUMANCLAT_HUMANIntAct32814053 details
PNKP_HUMANFGFR3_HUMANIntAct32814053 details
PNKP_HUMANUBQL1_HUMANIntAct32814053 details
PNKP_HUMANA4_HUMANBioGRID21832049 details
PNKP_HUMANATX3_HUMANBioGRID25590633 30994454 details
PNKP_HUMANLMNA_HUMANBioGRID24623722 details
PNKP_HUMANMEOX2_HUMANBioGRID32296183 details
PNKP_HUMANOBI1_HUMANBioGRID32296183 details
PNKP_HUMANOGT1_HUMANBioGRID32994395 details
PNKP_HUMAN1433Z_HUMANIntAct17353931 details
PNKP_HUMANDNLI4_HUMANBioGRID, IntAct15385968 17353931 details
PNKP_HUMANMCM3_HUMANBioGRID, IntAct15385968 17353931 details
PNKP_HUMANTP53B_HUMANMINT21637298 details
PNKP_HUMANCR025_HUMANBioGRID15385968 details
PNKP_HUMANTRI26_HUMANBioGRID15385968 details
PNKP_HUMANNASP_HUMANBioGRID15385968 details
PNKP_HUMANXRCC6_HUMANBioGRID15385968 details
PNKP_HUMANXRCC5_HUMANBioGRID15385968 details
PNKP_HUMANSSRP1_HUMANBioGRID15385968 details
PNKP_HUMANMCM5_HUMANBioGRID15385968 details
PNKP_HUMANGEMI4_HUMANBioGRID15385968 details
PNKP_HUMANCD11B_HUMANBioGRID15385968 details
PNKP_HUMANPARP1_HUMANBioGRID15385968 details
PNKP_HUMANHNRPU_HUMANBioGRID15385968 details
PNKP_HUMANNOLC1_HUMANBioGRID15385968 details
PNKP_HUMANSP16H_HUMANBioGRID15385968 details
PNKP_HUMANNRDC_HUMANBioGRID15385968 details
PNKP_HUMANCBPC1_HUMANBioGRID15385968 details
PNKP_HUMANTCOF_HUMANBioGRID15385968 details
PNKP_HUMANDCAF1_HUMANBioGRID15385968 details
PNKP_HUMANUBE2O_HUMANBioGRID15385968 details
PNKP_HUMANPRKDC_HUMANBioGRID15385968 details
PNKP_HUMANHD_HUMANBioGRID30994454 details
PNKP_HUMANHAP1_HUMANBioGRID30994454 details
PNKP_HUMANRPB1_HUMANBioGRID30994454 details
PNKP_HUMANCBP_HUMANBioGRID30994454 details
PNKP_HUMANTAF4_HUMANBioGRID30994454 details