ENSMUSG00000002963


Mus musculus

Features
Gene ID: ENSMUSG00000002963
  
Biological name :Pnkp
  
Synonyms : Pnkp / polynucleotide kinase 3- phosphatase
  
Possible biological names infered from orthology : Q96T60
  
Species: Mus musculus
  
Chr. number: 7
Strand: 1
Band: B3
Gene start: 44857139
Gene end: 44862992
  
Corresponding Affymetrix probe sets: 10552760 (MoGene1.0st)   1416378_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000115504
Ensembl peptide - ENSMUSP00000103508
Ensembl peptide - ENSMUSP00000143862
Ensembl peptide - ENSMUSP00000147079
Ensembl peptide - ENSMUSP00000147012
Ensembl peptide - ENSMUSP00000144690
Ensembl peptide - ENSMUSP00000144663
Ensembl peptide - ENSMUSP00000144484
Ensembl peptide - ENSMUSP00000144330
Ensembl peptide - ENSMUSP00000144163
Ensembl peptide - ENSMUSP00000143904
Ensembl peptide - ENSMUSP00000003044
Ensembl peptide - ENSMUSP00000096078
NCBI entrez gene - 59047     See in Manteia.
MGI - MGI:1891698
RefSeq - XM_017322432
RefSeq - NM_001290764
RefSeq - NM_001290766
RefSeq - NM_001290767
RefSeq - NM_021549
RefSeq - XM_006541038
RefSeq - XM_006541039
RefSeq - XM_006541040
RefSeq - XM_006541041
RefSeq - XM_006541042
RefSeq - XM_011250885
RefSeq Peptide - NP_067524
RefSeq Peptide - NP_001277696
RefSeq Peptide - NP_001277693
RefSeq Peptide - NP_001277695
swissprot - A0A140LJ53
swissprot - A0A140LIZ1
swissprot - A0A0J9YVJ6
swissprot - A0A0J9YVH5
swissprot - A0A0J9YV48
swissprot - A0A0J9YUT2
swissprot - G5E8N7
swissprot - A0A0J9YUF9
swissprot - A0A0J9YTV1
swissprot - E9Q9A5
swissprot - D3YZV7
Ensembl - ENSMUSG00000002963
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pnkpENSDARG00000100455Danio rerio
 PNKPENSG00000039650Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Aptx / Q7TQC5 / Aprataxin / Q7Z2E3*ENSMUSG0000002841115


Protein motifs (from Interpro)
Interpro ID Name
 IPR006549  HAD-superfamily hydrolase,subfamily IIIA
 IPR006550  Polynucleotide kinase 3-phosphatase, metazoan
 IPR006551  Polynucleotide 3"-phosphatase
 IPR008984  SMAD/FHA domain superfamily
 IPR013954  Polynucleotide kinase 3 phosphatase
 IPR023214  HAD superfamily
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR036412  HAD-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006979 response to oxidative stress IEA
 biological_processGO:0010836 negative regulation of protein ADP-ribosylation IEA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0016311 dephosphorylation IEA
 biological_processGO:0032212 positive regulation of telomere maintenance via telomerase IEA
 biological_processGO:0042769 DNA damage response, detection of DNA damage IEA
 biological_processGO:0046939 nucleotide phosphorylation IEA
 biological_processGO:0051973 positive regulation of telomerase activity IEA
 biological_processGO:0098506 polynucleotide 3" dephosphorylation IEA
 biological_processGO:1904355 positive regulation of telomere capping IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005730 nucleolus IEA
 cellular_componentGO:0005739 mitochondrion IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0046403 polynucleotide 3"-phosphatase activity IEA
 molecular_functionGO:0046404 ATP-dependent polydeoxyribonucleotide 5"-hydroxyl-kinase activity IEA


Pathways (from Reactome)
Pathway description
APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000352 decreased cell proliferation "less than the normal growth and reproduction of similar cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Pnkptm1.1Pmc/Pnkptm1.1Pmc,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

Allelic Composition: Pnkptm1.1Pmc/Pnkptm1.1Pmc,Emx1tm1(cre)Krj/Emx1+
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * C57BL/6

Allelic Composition: Pnkptm1Pmc/Pnkptm1Pmc
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0000433 microcephaly "an abnormally small head" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pnkptm2.1Pmc/Pnkptm2.1Pmc
Genetic Background: involves: C57BL/6

 MP:0000774 reduced brain size "smaller appearance of the brain" [J:35802]
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Allelic Composition: Pnkptm1.1Pmc/Pnkptm1.1Pmc,Emx1tm1(cre)Krj/Emx1+
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * C57BL/6

Allelic Composition: Pnkptm1Pmc/Pnkptm1Pmc
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Pnkptm1.1Pmc/Pnkptm1.1Pmc,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

 MP:0000852 small cerebellum "reduced size of cerebellum" [MGI:CLS, J:17203, J:67524]
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Allelic Composition: Pnkptm1Pmc/Pnkptm1Pmc
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0000920 abnormal myelination "atypical or altered myelination in axon sheaths" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pnkptm1.1Pmc/Pnkptm1.1Pmc,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
Show

Allelic Composition: Pnkptm1.1Pmc/Pnkptm1.1Pmc,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

Allelic Composition: Pnkptm1.1Pmc/Pnkptm1.1Pmc,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

 MP:0001915 intracranial hemorrhage "bleeding within the skull, including hemorrhage into the brain and within the cranial epidural, subdural, and subarachnoid spaces" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Pnkptm1.1Pmc/Pnkptm1.1Pmc,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

Allelic Composition: Atmtm2Pmc/Atmtm2Pmc,Pnkptm1.1Pmc/Pnkptm1.1Pmc,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

 MP:0004097 abnormal cerebellar cortex morphology "any structural anomaly of the thin mantle of gray matter that covers the surface of each cerebral hemisphere, including the six layers of nerve cells and the nerve pathways that connect them; together, these regions are responsible for the processes of conscious thought, perception, emotion and memory as well as advanced motor function" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Pnkptm1.1Pmc/Pnkptm1.1Pmc,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

Allelic Composition: Pnkptm1.1Pmc/Pnkptm1.1Pmc,Emx1tm1(cre)Krj/Emx1+
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * C57BL/6

Allelic Composition: Pnkptm1Pmc/Pnkptm1Pmc
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Pnkptm1.1Pmc/Pnkptm1.1Pmc,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

 MP:0004101 abnormal brain interneuron morphology "malformation or absence of neurons that exclusively interact with other neurons in the brain; this includes most brain neuronal cell types" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pnkptm1.1Pmc/Pnkptm1.1Pmc,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

Allelic Composition: Atmtm2Pmc/Atmtm2Pmc,Pnkptm1.1Pmc/Pnkptm1.1Pmc,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

 MP:0008058 abnormal DNA repair "any anomaly in the process of restoring DNA after damage or replication error" [GO:0006281]
Show

Allelic Composition: Pnkptm1.1Pmc/Pnkptm1.1Pmc,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

Allelic Composition: Pnkptm1Pmc/Pnkptm1Pmc
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0008948 decreased neuron number "fewer than normal numbers of the cells of the nervous system that receive, conduct, and transmit impulses" [MESH:A08.663]
Show

Allelic Composition: Pnkptm1.1Pmc/Pnkptm1.1Pmc,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

Allelic Composition: Pnkptm1.1Pmc/Pnkptm1.1Pmc,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

 MP:0009808 reduced oligodendrocyte number "significantly fewer than the expected number of cells of the central nervous system that form the insulating myelin sheath of axons in the CNS are present" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pnkptm1.1Pmc/Pnkptm1.1Pmc,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

 MP:0010947 abnormal single-strand DNA break repair "anomaly in the process of repair of single strand breaks in DNA; repair of such breaks is mediated by the same enzyme systems as are used in base excision repair" [GO:0000012]
Show

Allelic Composition: Pnkptm1.1Pmc/Pnkptm1.1Pmc,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

Allelic Composition: Pnkptm1Pmc/Pnkptm1Pmc
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0010948 abnormal double-strand DNA break repair "any annomaly in the process of repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix" [GO:0006302]
Show

Allelic Composition: Pnkptm1.1Pmc/Pnkptm1.1Pmc,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

Allelic Composition: Pnkptm1Pmc/Pnkptm1Pmc
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Pnkptm1.1Pmc/Pnkptm1.1Pmc,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

 MP:0011092 complete embryonic lethality "death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith]
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Allelic Composition: Cd19tm1(cre)Cgn/Cd19+,Ctnnbl1tm1.1Crad/Ctnnbl1tm1.1Crad
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

Allelic Composition: Pnkptm2.1Pmc/Pnkptm2.1Pmc
Genetic Background: involves: C57BL/6

 MP:0014178 increased brain apoptosis "increase in the number of cells of the brain undergoing programmed cell death" [MGI:Anna]
Show

Allelic Composition: Pnkptm1.1Pmc/Pnkptm1.1Pmc,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

Allelic Composition: Pnkptm1.1Pmc/Pnkptm1.1Pmc,Emx1tm1(cre)Krj/Emx1+
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * C57BL/6

Allelic Composition: Atmtm2Pmc/Atmtm2Pmc,Pnkptm1.1Pmc/Pnkptm1.1Pmc,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

Allelic Composition: Pnkptm1Pmc/Pnkptm1Pmc
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Pnkptm1.1Pmc/Pnkptm1.1Pmc,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

1 s.

 
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