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Prkdc
Gene Detail
Symbol

Name
ID
Prkdc
protein kinase, DNA activated, catalytic polypeptide
MGI:104779
Synonyms
DNAPDcs, DNA-PK, DNA-PKcs, DOXNPH, dxnph, slip, XRCC7
Feature Type
protein coding gene
Genetic Map
Chromosome 16
10.09 cM, cytoband B1
Detailed Genetic Map ± 1 cM


Mapping data(17)
Sequence Map
Chr16:15637866-15842235 bp, + strand
From VEGA annotation of GRCm38

  204370 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:5037  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: PRKDC
Gene Tree: Prkdc

Human
homologs
PRKDC, protein kinase, DNA-activated, catalytic polypeptide
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 5591
neXtProt AC: NX_P78527

Human Synonyms: DNAPK, DNA-PKcs, DNPK1, HYRC, HYRC1, IMD26, p350, XRCC7

Human Chr (Location): 8q11; chr8:47773108-47960183 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human PRKDC

Mutations,
alleles, and
phenotypes
All mutations/alleles(30) : Chemically induced (ENU)(5) Gene trapped(17) QTL(1) Spontaneous(2) Targeted(4) Transgenic(1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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.
 
Human Diseases Modeled in Mice Using Prkdc (2)    Mutations Annotated to Human Diseases (1)    Phenotype Images(1)
Interactions
Prkdc interacts with 215 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (68 annotations)
Process B cell lineage commitment, brain development, ...
Component DNA-dependent protein kinase-DNA ligase 4 complex, intracellular, ...
Function ATP binding, DNA binding, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (17)    Tissues (10)    Images (19)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 17
cDNA source data(23)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA PRKDC ; Xenbase prkdc ; ZFIN prkdc    NEW 
Molecular
reagents
All nucleic(28) Genomic(3) cDNA(25)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000043440 (Evidence)
Ensembl Gene Model ENSMUSG00000022672 (Evidence)
Entrez Gene 19090 (Evidence)
UniGene 71
DFCI TC1584747, TC1639046
DoTS DT.488196, DT.91414116
NIA Mouse Gene Index U016848
EC 2.7.11.1
Consensus CDS Project CCDS27978.1
International Mouse Phenotyping Consortium Status Prkdc
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000043440 VEGA Gene Model | MGI Sequence Detail 204370 C57BL/6J ±  kb
transcript OTTMUST00000113952 VEGA | MGI Sequence Detail 12647 Not Applicable 
polypeptide OTTMUSP00000063630 VEGA | MGI Sequence Detail 4128 Not Applicable 

For the selected sequences
All sequences(45) RefSeq(8) UniProt(1)
Polymorphisms
RFLP(1) : SNPs within 2kb(579 from dbSNP Build 137)    SNPs within 2kb including multiple locations(583)
Protein-related
information
ResourceIDDescription
InterPro IPR011989 Armadillo-like helical
InterPro IPR016024 Armadillo-type fold
InterPro IPR003152 FATC domain
InterPro IPR012582 NUC194
InterPro IPR000403 Phosphatidylinositol 3-/4-kinase, catalytic domain
InterPro IPR018936 Phosphatidylinositol 3/4-kinase, conserved site
InterPro IPR014009 PIK-related kinase
InterPro IPR003151 PIK-related kinase, FAT
InterPro IPR011009 Protein kinase-like domain
Protein Ontology PR:000013239 DNA-dependent protein kinase catalytic subunit
References
(Earliest) J:5237 Graff RJ, Polymorphism of histocompatibility genes in the mouse. Transplant Proc. 1970 Mar;2(1):15-23
(Latest) J:222874 Liao YJ, et al., Niemann-Pick type C2 protein regulates liver cancer progression via modulating ERK1/2 pathway: Clinicopathological correlations and therapeutical implications. Int J Cancer. 2015 Sep;137(6):1341-51
All references(831)
Disease annotation references (3)
Other
accession IDs
MGD-MRK-14312, MGD-MRK-28071, MGI:2146417, MGI:2146554, MGI:3574416

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory