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Prkdc Gene Detail
Summary
  • Symbol
    Prkdc
  • Name
    protein kinase, DNA activated, catalytic polypeptide
  • Synonyms
    DNAPDcs, DNA-PK, DNA-PKcs, DOXNPH, dxnph, slip, XRCC7
  • Feature Type
    protein coding gene
  • IDs
    MGI:104779
    NCBI Gene: 19090
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:15455730-15660099 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 10.09 cM, cytoband B1
  • Mapping Data
    17 experiments
Strain
Comparison
more
  • SNPs within 2kb
    4990 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104779
 protein coding gene Chr16:15455698-15660103 (+)
129S1/SvImJ MGP_129S1SvImJ_G0022552
 protein coding gene Chr16:12714769-12932615 (+)
A/J MGP_AJ_G0022513
 protein coding gene Chr16:12034973-12243407 (+)
AKR/J MGP_AKRJ_G0022490
 protein coding gene Chr16:12527877-12752818 (+)
BALB/cJ MGP_BALBcJ_G0022518
 protein coding gene Chr16:12191057-12403880 (+)
C3H/HeJ MGP_C3HHeJ_G0022285
 protein coding gene Chr16:12640642-12845454 (+)
C57BL/6NJ MGP_C57BL6NJ_G0022967
 protein coding gene Chr16:12874109-13086780 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020487
 protein coding gene Chr16:12173251-12371730 (+)
CAST/EiJ MGP_CASTEiJ_G0021812
 protein coding gene Chr16:12594993-12797935 (+)
CBA/J MGP_CBAJ_G0022254
 protein coding gene Chr16:13458181-13674892 (+)
DBA/2J MGP_DBA2J_G0022385
 protein coding gene Chr16:11999566-12195134 (+)
FVB/NJ MGP_FVBNJ_G0022361
 protein coding gene Chr16:12041303-12233958 (+)
LP/J MGP_LPJ_G0022453
 protein coding gene Chr16:12501939-12717630 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022383
 protein coding gene Chr16:13111704-13365654 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0022980
 protein coding gene Chr16:12475487-12696373 (+)
PWK/PhJ MGP_PWKPhJ_G0021554
 protein coding gene Chr16:12249361-12449916 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021382
 protein coding gene Chr16:12479733-12681298 (+)
WSB/EiJ MGP_WSBEiJ_G0021860
 protein coding gene Chr16:12477892-12690339 (+)



Homology
more
  • Human Ortholog
    PRKDC, protein kinase, DNA-activated, catalytic subunit
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PRKDC, protein kinase, DNA-activated, catalytic subunit
  • Synonyms
    DNAPK, DNAPKc, DNA-PKC, DNA-PKcs, DNPK1, HYRC, HYRC1, IMD26, p350, XRCC7
  • Links
    NCBI Gene ID: 5591
    neXtProt AC: NX_P78527
    UniProt: P78527

  • Chr Location
    8q11.21; chr8:47773111-47960178 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Prkdc mouse models; 1 with human PRKDC associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    158 phenotypes from 30 alleles in 42 genetic backgrounds
    132 phenotypes from multigenic genotypes
    1 images
    1097 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mutations at this locus effect genome stability, radiation sensitivity and DNA repair. Nonsense (scid) and null homozygotes have severe combined immunodeficiency. A BALB/c variant allele reduces enzyme activity and predisposes to breast cancer.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    147
  • GO References
    28
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    735
  • Tissues
    11
  • cDNA Data
    24
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000022672 Ensembl Gene Model | MGI Sequence Detail 204370 C57BL/6J ±  kb
    transcript ENSMUST00000023352 Ensembl | MGI Sequence Detail 12647 Not Applicable  
    polypeptide ENSMUSP00000023352 Ensembl | MGI Sequence Detail 4128 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000013239 DNA-dependent protein kinase catalytic subunit
      (term hierarchy)
    • EC
      2.7.11.1
    • InterPro Domains
      IPR016024 Armadillo-type fold
      IPR050517 DNA Damage Response and Repair Kinase
      IPR037706 DNA-dependent protein kinase catalytic subunit, catalytic domain
      IPR046803 DNA-dependent protein kinase catalytic subunit, CC1/2
      IPR012582 DNA-dependent protein kinase catalytic subunit, CC3
      IPR045581 DNA-dependent protein kinase catalytic subunit, CC5
      IPR046804 DNA-PKcs, N-terminal
      IPR003152 FATC domain
      IPR000403 Phosphatidylinositol 3-/4-kinase, catalytic domain
      IPR036940 Phosphatidylinositol 3-/4-kinase, catalytic domain superfamily
      IPR018936 Phosphatidylinositol 3/4-kinase, conserved site
      IPR014009 PIK-related kinase
      IPR003151 PIK-related kinase, FAT
      IPR011009 Protein kinase-like domain superfamily
    • GlyGen
      P97313 3 sites, 3 N-linked glycans (3 sites)
    Molecular
    Reagents
    less
    • All nucleic 29
      Genomic 3
      cDNA 26

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-14312, MGD-MRK-28071, MGI:2146417, MGI:2146554, MGI:3574416
    References
    more
    • Summaries
      All 1296
      Developmental Gene Expression 6
      Diseases 4
      Gene Ontology 28
      Phenotypes 1097
    • Earliest
      J:5237 Graff RJ, Polymorphism of histocompatibility genes in the mouse. Transplant Proc. 1970 Mar;2(1):15-23
    • Latest
      J:355507 Kalinina O, et al., Exopolysaccharide-Treated Dendritic Cells Effectively Ameliorate Acute Graft-versus-Host Disease. Transplant Cell Ther. 2024 Jan;30(1):79.e1-79.e10
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory