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Pnkp Gene Detail
Summary
  • Symbol
    Pnkp
  • Name
    polynucleotide kinase 3'- phosphatase
  • Synonyms
    1810009G08Rik, PNK
  • Feature Type
    protein coding gene
  • IDs
    MGI:1891698
    NCBI Gene: 59047
  • Gene Overview
    MyGene.info: PNKP
Location & Maps
more
  • Sequence Map
    Chr7:44857139-44862992 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      5854 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    PNKP, polynucleotide kinase 3'-phosphatase
  • Vertebrate Orthologs
    9
  • Human Ortholog
    PNKP, polynucleotide kinase 3'-phosphatase
    Orthology source: HomoloGene
  • Synonyms
    AOA4, EIEE10, MCSZ, PNK
  • Links
    NCBI Gene ID: 11284
    neXtProt AC: NX_Q96T60

  • Chr Location
    19q13.3-q13.4; chr19:49861203-49867565 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human PNKP associations

Human Disease Mouse Models
       Ataxia-Oculomotor Apraxia 4; AOA4   OMIM: 616267
Microcephaly, Seizures, and Developmental Delay; MCSZ   OMIM: 613402
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotype references
  • All Mutations and Alleles
    10
  • Gene trapped
    5
  • Targeted
    5
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022325 VEGA Gene Model | MGI Sequence Detail 5854 C57BL/6J ±  kb
transcript OTTMUST00000053209 VEGA | MGI Sequence Detail 1770 Not Applicable  
polypeptide OTTMUSP00000025292 VEGA | MGI Sequence Detail 522 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    49 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 14
    cDNA 14

    Microarray probesets 4
Other
Accession IDs
less
MGI:1923601
References
more
  • Summaries
    All 38
    Developmental Gene Expression 2
    Gene Ontology 4
    Phenotypes 7
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:226703 Shimada M, et al., Polynucleotide kinase-phosphatase enables neurogenesis via multiple DNA repair pathways to maintain genome stability. EMBO J. 2015 Oct 1;34(19):2465-80

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory