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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
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:44857139-44862992 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 28.94 cM, cytoband B2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    49 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1891698
protein coding gene Chr7:44856479-44862992 (.)
129S1/SvImJ MGP_129S1SvImJ_G0032182
protein coding gene Chr7:45065164-45071029 (+)
A/J MGP_AJ_G0032161
protein coding gene Chr7:44220684-44226371 (+)
AKR/J MGP_AKRJ_G0032097
protein coding gene Chr7:45436611-45443891 (+)
BALB/cJ MGP_BALBcJ_G0032173
protein coding gene Chr7:44220466-44226125 (+)
C3H/HeJ MGP_C3HHeJ_G0031889
protein coding gene Chr7:45939504-45945368 (+)
C57BL/6NJ MGP_C57BL6NJ_G0032665
protein coding gene Chr7:47329399-47336747 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029679
protein coding gene Chr7:46791094-46796833 (+)
CAST/EiJ MGP_CASTEiJ_G0031217
protein coding gene Chr7:37309598-37315401 (+)
CBA/J MGP_CBAJ_G0031853
protein coding gene Chr7:48879857-48888576 (+)
DBA/2J MGP_DBA2J_G0032011
protein coding gene Chr7:43891557-43897389 (+)
FVB/NJ MGP_FVBNJ_G0031962
protein coding gene Chr7:43667848-43674977 (+)
LP/J MGP_LPJ_G0032089
protein coding gene Chr7:45747626-45753470 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0031999
protein coding gene Chr7:47618845-47624719 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0032681
protein coding gene Chr7:44660868-44666707 (+)
PWK/PhJ MGP_PWKPhJ_G0030940
protein coding gene Chr7:37255781-37261751 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030777
protein coding gene Chr7:32661634-32667130 (+)
WSB/EiJ MGP_WSBEiJ_G0031334
protein coding gene Chr7:45135517-45141339 (+)



Homology
more
  • Human Ortholog
    PNKP, polynucleotide kinase 3'-phosphatase
  • Vertebrate Orthologs
    9
  • Human Ortholog
    PNKP, polynucleotide kinase 3'-phosphatase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AOA4, EIEE10, MCSZ, PNK
  • Links
    NCBI Gene ID: 11284
    neXtProt AC: NX_Q96T60
    UniProt: Q96T60

  • Chr Location
    19q13.33; chr19:49861203-49867565 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    17 phenotypes from 3 alleles in 5 genetic backgrounds
    3 phenotypes from multigenic genotypes
    8 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygotes for a frame-shift allele are embryonic lethal. Homozygotes for a hypomorphic allele exhibit smaller brain (cortex and cerebellum) and defects in both single- and double-strand DNA break repair associated with increased brain apoptosis and decreased proliferation in cortical progenitors.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000002963 Ensembl Gene Model | MGI Sequence Detail 5854 C57BL/6J ±  kb
transcript ENSMUST00000003044 Ensembl | MGI Sequence Detail 2184 Not Applicable  
polypeptide ENSMUSP00000003044 Ensembl | MGI Sequence Detail 522 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 15
    cDNA 15

    Microarray probesets 4
Other
Accession IDs
less
MGI:1923601
References
more
  • Summaries
    All 40
    Developmental Gene Expression 3
    Gene Ontology 5
    Phenotypes 8
  • 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:235644 Wu Y, et al., Mtu1-Mediated Thiouridine Formation of Mitochondrial tRNAs Is Required for Mitochondrial Translation and Is Involved in Reversible Infantile Liver Injury. PLoS Genet. 2016 Sep;12(9):e1006355

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
11/06/2018
MGI 6.13
The Jackson Laboratory