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

Chr16:15637866-15842239 bp, + strand From NCBI annotation of GRCm38   204374 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 zebrafish

Gene Tree: Prkdc

Human homologs

Human Homolog		PRKDC, protein kinase, DNA-activated, catalytic polypeptide
NCBI Gene ID		5591
neXtProt AC		NX_P78527
Human Synonyms		DNAPK, DNA-PKcs, DNPK1, HYRC, HYRC1, p350, XRCC7
Human Chr (Location)		8q11; chr8:48685669-48872743 (-)  GRCh37.p10

Alleles and phenotypes

All alleles(28) : Targeted(4) Gene trapped(17) Transgenic(1) Spontaneous(2) Chemically induced(3) QTL(1)
 

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 Using Mouse Prkdc (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(1)

Gene Ontology (GO) classifications

All GO classifications: (41 annotations)

Process	apoptotic process, B cell lineage commitment, ...
Component	DNA-dependent protein kinase-DNA ligase 4 complex, nonhomologous end joining complex, ...
Function	ATP binding, DNA binding, ...

External Resources: FuncBase

Expression

Literature Summary: (3 records)
Data Summary: Results (17)    Tissues (9)    Images (19)
Theiler Stages: 22, 23, 24, 26, 28

Assay Type	Results
RNA in situ	17

cDNA source data(23)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(28) Genomic(3) cDNA(25)
Microarray probesets(3)

Other database links

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 Knockout Project Status	Prkdc

Sequences

Length	Strain/Species
genomic	19090	NCBI Gene Model | MGI Sequence Detail	204374	C57BL/6J
transcript	NM_011159	RefSeq | MGI Sequence Detail	12674	C57BL/6
polypeptide	P97313	UniProt | EBI | MGI Sequence Detail	4128	Not Applicable

All sequences(34) RefSeq(2) UniProt(1)

Polymorphisms

RFLP(1) : SNPs(528 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR011989	Armadillo-like helical
InterPro	IPR016024	Armadillo-type fold
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	IPR003152	PIK-related kinase, FATC
InterPro	IPR011009	Protein kinase-like domain
Protein Ontology	PR:000013239	DNA-dependent protein kinase catalytic subunit

Graphical View of Protein Domain Structure

References

(Earliest) J:5237 Graff RJ, Polymorphism of histocompatibility genes in the mouse. Transplant Proc. 1970 Mar;2(1):15-23
(Latest) J:194947 de Laval B, et al., Thrombopoietin-increased DNA-PK-dependent DNA repair limits hematopoietic stem and progenitor cell mutagenesis in response to DNA damage. Cell Stem Cell. 2013 Jan 3;12(1):37-48
All references(726)

Other accession IDs

MGD-MRK-14312, MGD-MRK-28071, MGI:2146417, MGI:2146554, MGI:3574416