Aliases for PRKDC Gene
Aliases for PRKDC Gene
External Ids for PRKDC Gene
- HGNC: 9413
- Entrez Gene: 5591
- Ensembl: ENSG00000253729
- OMIM: 600899
- UniProtKB: P78527
Previous HGNC Symbols for PRKDC Gene
- HYRC
- HYRC1
Previous GeneCards Identifiers for PRKDC Gene
- GC08P047830
- GC08M048689
- GC08M048408
- GC08M048735
- GC08M048848
- GC08M048685
Summaries for PRKDC Gene
-
This gene encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). It functions with the Ku70/Ku80 heterodimer protein in DNA double strand break repair and recombination. The protein encoded is a member of the PI3/PI4-kinase family.[provided by RefSeq, Jul 2010]
GeneCards Summary for PRKDC Gene
PRKDC (Protein Kinase, DNA-Activated, Catalytic Polypeptide) is a Protein Coding gene. Diseases associated with PRKDC include Immunodeficiency 26, With Or Without Neurologic Abnormalities and Artemis Deficiency. Among its related pathways are DNA Double-Strand Break Repair and DNA damage_NHEJ mechanisms of DSBs repair. GO annotations related to this gene include poly(A) RNA binding and protein kinase activity. An important paralog of this gene is ATR.
UniProtKB/Swiss-Prot for PRKDC Gene
-
Serine/threonine-protein kinase that acts as a molecular sensor for DNA damage. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. Must be bound to DNA to express its catalytic properties. Promotes processing of hairpin DNA structures in V(D)J recombination by activation of the hairpin endonuclease artemis (DCLRE1C). The assembly of the DNA-PK complex at DNA ends is also required for the NHEJ ligation step. Required to protect and align broken ends of DNA. May also act as a scaffold protein to aid the localization of DNA repair proteins to the site of damage. Found at the ends of chromosomes, suggesting a further role in the maintenance of telomeric stability and the prevention of chromosomal end fusion. Also involved in modulation of transcription. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates Ser-139 of histone variant H2AX/H2AFX, thereby regulating DNA damage response mechanism. Phosphorylates DCLRE1C, c-Abl/ABL1, histone H1, HSPCA, c-jun/JUN, p53/TP53, PARP1, POU2F1, DHX9, SRF, XRCC1, XRCC1, XRCC4, XRCC5, XRCC6, WRN, MYC and RFA2. Can phosphorylate C1D not only in the presence of linear DNA but also in the presence of supercoiled DNA. Ability to phosphorylate p53/TP53 in the presence of supercoiled DNA is dependent on C1D. Contributes to the determination of the circadian period length by antagonizing phosphorylation of CRY1 Ser-588 and increasing CRY1 protein stability, most likely through an indirect machanism. Interacts with CRY1 and CRY2; negatively regulates CRY1 phosphorylation.
-
DNA-dependent protein kinase (DNA-PK) is a nuclear protein serine/threonine kinase that is a molecular sensor of DNA damage. DNA-PK is involved in the ligation step of the non-homologous end joining (NHEJ) pathway of DNA double strand break (DSB) repair.
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRKDC Gene
Genomics for PRKDC Gene
Regulatory Elements for PRKDC Gene
Enhancers for PRKDC Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around PRKDC on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the PRKDC gene promoter:
Regulatory Element Products
Genomic Location for PRKDC Gene
- Chromosome:
- 8
- Start:
- 47,773,108 bp from pter
- End:
- 47,960,183 bp from pter
- Size:
- 187,076 bases
- Orientation:
- Minus strand
Genomic View for PRKDC Gene
Genes around PRKDC on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 8q11.21 by Ensembl
- 8q11.21 by Entrez Gene
- 8q11.21 by HGNC
PRKDC Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PRKDC Gene
Proteins for PRKDC Gene
-
Protein details for PRKDC Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P78527-PRKDC_HUMAN
- Recommended name:
- DNA-dependent protein kinase catalytic subunit
- Protein Accession:
- P78527
- P78528
- Q13327
- Q13337
- Q14175
- Q59H99
- Q7Z611
- Q96SE6
- Q9UME3
Protein attributes for PRKDC Gene
- Size:
- 4128 amino acids
- Molecular mass:
- 469089 Da
- Quaternary structure:
-
- DNA-PK is a heterotrimer of PRKDC and the Ku p70/YRCC6-p86/XRCC5 dimer. Formation of this complex may be promoted by interaction with ILF3. Associates with the DNA-bound Ku heterodimer, but it can also bind to and be activated by free DNA. The DNA-PK heterotrimer associates with the LIG4-XRCC4 complex to form the core of the non-homologous end joining (NHEJ) complex. Additional components of the NHEJ complex include NHEJ1/XLF and C9ORF142/PAXX. Interacts with DNA-PKcs-interacting protein (KIP) with the region upstream the kinase domain. PRKDC alone also interacts with and phosphorylates DCLRE1C, thereby activating the latent endonuclease activity of this protein. Interacts with C1D. Interacts with TTI1 and TELO2. Interacts with CIB1. Interacts with SETX (PubMed:23149945). Interacts with NR4A3; the DNA-dependent protein kinase complex DNA-PK phosphorylates and activates NR4A3 and prevents NR4A3 ubiquitinylation and degradation (PubMed:25852083). Interacts with BRAT1.
Protein Expression for PRKDC Gene
Selected DME Specific Peptides for PRKDC Gene
- P78527:
-
- YHCAAYNCAI
- FPPLADRF
- LRLRRRF
- AAQKGFN
- KMKQYKDELLASCL
- NTEEVFRPYA
- GIVDPVDSTLRDFCG
- KDNSVGIQLLG
- FEHPLSEC
- PLISGFYKL
- CGRPQTECRHK
- ETRLPSNT
- FMQNYSSID
- LKSRFTK
- AACELLHS
- CLASLQQP
- WKVPTYKDY
- LACDVDQVTRQLYEPLVMQLIHW
- SLYSPKIE
- GIHYMVVE
- KFYGELA
- EGNELTK
- YNYSKCT
- SLVEQFVFEALV
- TMDVFVKEP
- ELAKLYRS
- ATQFLPVPELMPFRLTRQ
- KFYQGFLF
- LSFAVPF
- EFLRNELE
- KRAVFRHNLEIIKT
Post-translational modifications for PRKDC Gene
- Autophosphorylated on Ser-2056, Thr-2609, Thr-2638 and Thr-2647. Ser-2056 and Thr-2609 are DNA damage-inducible phosphorylation sites (inducible with ionizing radiation, IR) dephosphorylated by PPP5C. Autophosphorylation induces a conformational change that leads to remodeling of the DNA-PK complex, requisite for efficient end processing and DNA repair.
- Polyubiquitinated by RNF144A, leading to proteasomal degradation.
- S-nitrosylated by GAPDH.
- Ubiquitination at posLast=108108, posLast=117117, posLast=148148, Lys205, posLast=225225, Lys236, posLast=254254, Lys263, Lys310, Lys337, posLast=374374, posLast=471471, Lys493, Lys520, posLast=525525, Lys681, posLast=689689, posLast=692692, posLast=700700, Lys801, Lys828, posLast=838838, posLast=868868, Lys881, Lys963, Lys1042, Lys1051, posLast=10571057, posLast=10741074, posLast=11931193, Lys1209, Lys1334, posLast=13611361, Lys1407, posLast=14121412, Lys1422, posLast=14561456, posLast=14891489, posLast=16171617, Lys1627, posLast=16421642, posLast=17441744, Lys1807, Lys1857, Lys1869, Lys1875, Lys1895, posLast=19131913, posLast=19171917, Lys1973, Lys1985, posLast=21022102, Lys2127, posLast=21322132, posLast=22592259, Lys2313, posLast=23342334, Lys2359, posLast=23692369, posLast=24182418, Lys2433, Lys2441, posLast=26832683, posLast=26942694, posLast=27152715, Lys2717, Lys2738, posLast=27642764, posLast=27862786, Lys2806, Lys2835, posLast=29082908, Lys2928, posLast=29502950, posLast=30673067, Lys3128, posLast=31473147, posLast=31583158, posLast=31723172, Lys3192, Lys3196, posLast=32483248, posLast=32573257, posLast=32603260, Lys3302, posLast=33183318, posLast=33553355, posLast=33723372, posLast=34263426, posLast=34553455, Lys3621, posLast=36313631, Lys3655, Lys3669, posLast=36913691, posLast=37103710, Lys3753, posLast=38253825, Lys3840, Lys3845, Lys3849, Lys3860, posLast=38843884, Lys4007, Lys4014, Lys4023, Lys4036, Lys4050, posLast=40704070, and Lys4105
- Modification sites at PhosphoSitePlus
Other Protein References for PRKDC Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for PRKDC
- R&D Systems Antibodies for PRKDC (DNA-PKcs)
- Cell Signaling Technology (CST) Antibodies for PRKDC (DNAPK)
-
Custom Antibody ServicesOriGene Antibodies for PRKDC
- AM06582SU-N
- AM31045PU-N
- AM31046PU-N
- AM33109PU-S
- AP00045PU-N
- TA347982
- TA347655
- TA347029
- TA347028
- TA336925
- TA333275
- TA327814
- TA324104
- TA319347
- TA314389
- TA314388
- TA314387
- TA314386
- TA309996
- AP21024PU-N
- AP20936PU-N
- AP20223PU-N
- AP12899PU-N
- AP07623PU-N
- AP06088PU-N
- AP02696PU-S
- AP02696PU-N
- AP02448PU-S
- AP02448PU-N
- Novus Biologicals Antibodies for PRKDC
-
Abcam antibodies for PRKDC
- Invitrogen Antibodies for PRKDC
- antibodies-online Antibodies for PRKDC: See all 393
- GeneTex PRKDC antibody for PRKDC
-
Santa Cruz Biotechnology (SCBT) Antibodies for PRKDC
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for PRKDC
- Origene Custom Protein Services for PRKDC
- Novus Biologicals proteins for PRKDC
- antibodies-online Proteins for PRKDC: See all 4
- Search antibodies-online for peptides
- Search GeneTex for Proteins for PRKDC
-
Abcam proteins for PRKDC
Assay Products
- antibodies-online Kits for PRKDC: See all 4
Domains & Families for PRKDC Gene
Protein Domains for PRKDC Gene
Suggested Antigen Peptide Sequences for PRKDC Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P78527- Family:
-
- Belongs to the PI3/PI4-kinase family.
No data available for Gene Families for PRKDC Gene
Function for PRKDC Gene
Molecular function for PRKDC Gene
- GENATLAS Biochemistry:
- DNA dependent serine/threonine protein kinase catalytic subunit,dimerizing with Ku antigen (see KUP70 (CLU),KUP80),involved in DNA double-strand break repair by end joining (non homologous recombination) and V(D)J recombination,same as HYRC1
- UniProtKB/Swiss-Prot CatalyticActivity:
- ATP + a protein = ADP + a phosphoprotein.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Inhibited by wortmannin. Activity of the enzyme seems to be attenuated by autophosphorylation.
- UniProtKB/Swiss-Prot Function:
- Serine/threonine-protein kinase that acts as a molecular sensor for DNA damage. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. Must be bound to DNA to express its catalytic properties. Promotes processing of hairpin DNA structures in V(D)J recombination by activation of the hairpin endonuclease artemis (DCLRE1C). The assembly of the DNA-PK complex at DNA ends is also required for the NHEJ ligation step. Required to protect and align broken ends of DNA. May also act as a scaffold protein to aid the localization of DNA repair proteins to the site of damage. Found at the ends of chromosomes, suggesting a further role in the maintenance of telomeric stability and the prevention of chromosomal end fusion. Also involved in modulation of transcription. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates Ser-139 of histone variant H2AX/H2AFX, thereby regulating DNA damage response mechanism. Phosphorylates DCLRE1C, c-Abl/ABL1, histone H1, HSPCA, c-jun/JUN, p53/TP53, PARP1, POU2F1, DHX9, SRF, XRCC1, XRCC1, XRCC4, XRCC5, XRCC6, WRN, MYC and RFA2. Can phosphorylate C1D not only in the presence of linear DNA but also in the presence of supercoiled DNA. Ability to phosphorylate p53/TP53 in the presence of supercoiled DNA is dependent on C1D. Contributes to the determination of the circadian period length by antagonizing phosphorylation of CRY1 Ser-588 and increasing CRY1 protein stability, most likely through an indirect machanism. Interacts with CRY1 and CRY2; negatively regulates CRY1 phosphorylation.
Enzyme Numbers (IUBMB) for PRKDC Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003690 | double-stranded DNA binding | IDA,IEA | 22504299 |
| GO:0003723 | RNA binding | IDA | 22658674 |
| GO:0004672 | protein kinase activity | IDA,IMP | 22504299 |
| GO:0004674 | protein serine/threonine kinase activity | TAS | -- |
Phenotypes for PRKDC Gene
- MGI mutant phenotypes for PRKDC:
-
inferred from 14 alleles
- mortality/aging
- cellular phenotype
- behavior/neurological phenotype
- growth/size/body region phenotype
- immune system phenotype
- muscle phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- respiratory system phenotype
- digestive/alimentary phenotype
- neoplasm
- reproductive system phenotype
- endocrine/exocrine gland phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- integument phenotype
- skeleton phenotype
- pigmentation phenotype
- hematopoietic system phenotype
- renal/urinary system phenotype
- liver/biliary system phenotype
- craniofacial phenotype
- adipose tissue phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for PRKDC:
-
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased viability in esophageal squamous lineage
- Decreased ionizing radiation sensitivity
- Increased shRNA abundance (Z-score > 2)
- Decreased viability ratio
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability
- Decreased vesicular stomatitis virus (VSV) infection
- Decreased substrate adherent cell growth
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased cell death HMECs cells
- Increased viability with MLN4924 (a NAE inhibitor)
- Decreased human cytomegalovirus (HCMV) strain AD169 replication
- Increased viability with tamoxifen
- Decreased DCP1a protein expression and assembly in processing bodies after arsenite stimulation
- Decreased viability after gemcitabine stimulation
- Decreased viability after ionizing radiation
Animal Model Products
- Cyagen custom Knockout/knockin (KOKI) mouse models for PRKDC
-
-
ViGene Biosciences lentiviral particle packaged cDNA for PRKDC gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PRKDC gene
- Search ViGene Biosciences for PRKDC
CRISPR Products
-
OriGene CRISPR knockouts for PRKDC
-
Santa Cruz Biotechnology (SCBT) CRISPR for PRKDC
- GenScript: Design CRISPR guide RNA sequences for PRKDC
miRNA for PRKDC Gene
- miRTarBase miRNAs that target PRKDC
miRNA Products
- Search ViGene Biosciences for PRKDC
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for PRKDC
- Browse OriGene Inhibitory RNA Products For PRKDC
-
ViGene Biosciences ready-to-package AAV shRNAs for PRKDC gene
Clone Products
- Addgene plasmids for PRKDC
- VectorBuilder custom plasmid, inducible vectors for PRKDC
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PRKDC
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for PRKDC gene
-
ViGene Biosciences lentiviral particle packaged cDNA for PRKDC gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PRKDC gene
Flow Cytometry Products
No data available for Transcription Factor Targets and HOMER Transcription for PRKDC Gene
Localization for PRKDC Gene
Subcellular locations from UniProtKB/Swiss-Prot for PRKDC Gene
- Nucleus. Nucleus, nucleolus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| extracellular | 4 |
| plasma membrane | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000784 | nuclear chromosome, telomeric region | IDA | 19135898 |
| GO:0005634 | nucleus | IEA,IDA | 22504299 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005667 | transcription factor complex | IDA | 19303849 |
| GO:0005730 | nucleolus | IEA | -- |
Pathways & Interactions for PRKDC Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | DNA Double-Strand Break Repair |
.53
|
|
| 2 | Cytosolic sensors of pathogen-associated DNA | ||
| 3 | Cell cycle |
.58
|
.58
|
| 4 | Granzyme Pathway | ||
| 5 | Protein ubiquitination | ||
Pathways by source for PRKDC Gene
1 Sino Biological pathway for PRKDC Gene
1 Cell Signaling Technology pathway for PRKDC Gene
12 BioSystems pathways for PRKDC Gene
12 Reactome pathways for PRKDC Gene
1 PharmGKB pathway for PRKDC Gene
2 KEGG pathways for PRKDC Gene
2 GeneGo (Thomson Reuters) pathways for PRKDC Gene
8 Qiagen pathways for PRKDC Gene
Interacting Proteins for PRKDC Gene
Selected Interacting proteins:
ENSP00000313420
P78527-PRKDC_HUMAN
for PRKDC Gene via
STRING
MINT
UniProtKB
IID
SIGNOR curated interactions for PRKDC Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000723 | telomere maintenance | IEA | -- |
| GO:0001756 | somitogenesis | IEA | -- |
| GO:0001933 | negative regulation of protein phosphorylation | ISS | -- |
| GO:0002326 | B cell lineage commitment | IEA | -- |
| GO:0002328 | pro-B cell differentiation | IEA | -- |
Drugs & Compounds for PRKDC Gene
(19) Drugs for PRKDC Gene - From: DrugBank, ApexBio, DGIdb, FDA Approved Drugs, HMDB, Tocris, and Novoseek
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Caffeine | Approved | Nutra | Antagonist, Target | A1 and A2B antagonist. CNS stimulant | 396 | |
| Cafcit Injection | Approved September 1999 | Pharma | 0 | |||
| Adenosine triphosphate | Approved | Nutra | 0 | |||
| SF1126 | Investigational | Pharma | inhibitor, Target | Kinase Inhibitors | 0 | |
| Wortmannin | Pharma | PI3K inhibitor,selective and irreversible | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Full agonist, Agonist | 58-64-0 |
|
||
| NU 7441 |
|
503468-95-9 |
|
|
(4) Tocris Compounds for PRKDC Gene
| Compound | Action | Cas Number |
|---|---|---|
| DMNB | DNA-PK inhibitor | 20357-25-9 |
| KU 0060648 | Dual DNA-PK and PI 3-K inhibitor | 881375-00-4 |
| NU 7026 | Selective DNA-PK inhibitor | 154447-35-5 |
| NU 7441 | Potent and selective DNA-PK inhibitor | 503468-95-9 |
(9) ApexBio Compounds for PRKDC Gene
| Compound | Action | Cas Number |
|---|---|---|
| Daun02 | Cell viability inhibitor,DNA synthisis inhibitor | 290304-24-4 |
| DMNB | 20357-25-9 | |
| ETP-46464 | ATR inhibitor,potent and selective | 1345675-02-6 |
| KU-0060648 | Dual DNA-PK/PI3-K inhibitor, ATP-competitive | 881375-00-4 |
| NU 7026 | DNPK inhibitor,ATP-competitive and potent | 154447-35-5 |
| NU7441 (KU-57788) | DNA-PK inhibitor | 503468-95-9 |
| PI-103 | Class I PI3K, mTOR and DNA-PK inhibitor | 371935-74-9 |
| Torin 2 | MTOR inhibitor,highly potent and selective | 1223001-51-1 |
| Wortmannin | PI3K inhibitor,selective and irreversible | 19545-26-7 |
Transcripts for PRKDC Gene
mRNA/cDNA for PRKDC Gene
- (2) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (489) Selected AceView cDNA sequences:
- (11) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for PRKDC Gene
CRISPR Products
-
OriGene CRISPR knockouts for PRKDC
-
Santa Cruz Biotechnology (SCBT) CRISPR for PRKDC
- GenScript: Design CRISPR guide RNA sequences for PRKDC
miRNA Products
- Search ViGene Biosciences for PRKDC
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for PRKDC
- Browse OriGene Inhibitory RNA Products For PRKDC
-
ViGene Biosciences ready-to-package AAV shRNAs for PRKDC gene
Clone Products
- Addgene plasmids for PRKDC
- VectorBuilder custom plasmid, inducible vectors for PRKDC
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PRKDC
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
Expression for PRKDC Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Thymus (Hematopoietic System)
- Double Negative 2 Thymocytes Thymus
-
Blood (Cardiovascular System)
- Double Negative 2 Thymocytes Thymus
This gene is overexpressed in Bone (14.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PRKDC Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of PRKDC Gene:
PRKDCSOURCE GeneReport for Unigene cluster for PRKDC Gene:
Hs.491682Evidence on tissue expression from TISSUES for PRKDC Gene
- Nervous system(4.8)
- Lung(4.7)
- Liver(4.5)
- Intestine(2.8)
- Spleen(2.4)
- Blood(2)
- Kidney(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PRKDC Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- immune
- lymphatic
- nervous
- respiratory
- skeleton
Organs:
Head and neck:
- brain
- head
- mouth
- skull
Thorax:
- bronchus
- lung
General:
- blood
- bone marrow
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for PRKDC
No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PRKDC Gene
Orthologs for PRKDC Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PRKDC 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | PRKDC 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Prkdc 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Prkdc 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| oppossum (Monodelphis domestica) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | PRKDC 34 35 |
|
||
| chicken (Gallus gallus) |
Aves | PRKDC 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | PRKDC 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | prkdc 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | prkdc-A 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | wu:fa96e12 34 |
|
||
| PRKDC 35 |
|
OneToOne | |||
| wufa96e12 34 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003967 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | mei-41 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | atl-1 35 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MEC1 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToOne |
- Species where no ortholog for PRKDC was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for PRKDC Gene
Variants for PRKDC Gene
| SNP ID | Clin | Chr 08 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs55735910 | A metastatic melanoma sample | 47,881,444(+) | TGTCA(A/G)CAAGT | reference, missense | |
| rs587777685 | Pathogenic, Immunodeficiency 26 with or without neurologic abnormalities (IMD26) [MIM:615966] | 47,820,870(+) | ATGTC(A/C)GCAGG | reference, missense | |
| rs587777686 | Pathogenic, Immunodeficiency 26 with or without neurologic abnormalities (IMD26) [MIM:615966] | 47,789,188(+) | CTAAG(A/G)CATTA | reference, missense | |
| rs758032015 | A lung adenocarcinoma sample | 47,943,872(+) | TATCT(A/C)TTCAG | intron-variant, reference, missense | |
| rs781401034 | A colorectal adenocarcinoma sample | 47,898,527(+) | TGATG(C/T)GGCAT | reference, missense |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2663658 | CNV | deletion | 23128226 |
| esv2759611 | CNV | loss | 17122850 |
| esv3617103 | CNV | loss | 21293372 |
| esv3617105 | CNV | loss | 21293372 |
| nsv478776 | CNV | novel sequence insertion | 20440878 |
| nsv6179 | CNV | deletion | 18451855 |
| nsv6180 | CNV | insertion | 18451855 |
| nsv831309 | CNV | loss | 17160897 |
| nsv8337 | CNV | gain | 18304495 |
Gene Damage Index Score:
6.58;
78.01% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for PRKDC Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRKDC Gene
Disorders for PRKDC Gene
(9) MalaCards diseases for PRKDC Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| immunodeficiency 26, with or without neurologic abnormalities |
|
|
| artemis deficiency |
|
|
| ataxia-telangiectasia |
|
|
| alpha-thalassemia/mental retardation syndrome |
|
|
| severe combined immunodeficiency |
|
Search PRKDC in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
PRKDC_HUMAN- Immunodeficiency 26 with or without neurologic abnormalities (IMD26) [MIM:615966]: A form of severe combined immunodeficiency characterized by reduced or absent T and B cells, recurrent candidiasis, and lower respiratory tract infections. Some patients show dysmorphic features, severe growth failure, microcephaly, seizures, and impaired neurological functions. {ECO:0000269 PubMed:19075392, ECO:0000269 PubMed:23722905}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for PRKDC
No data available for Genatlas for PRKDC Gene
Publications for PRKDC Gene
- Gene for the catalytic subunit of the human DNA-activated protein kinase maps to the site of the XRCC7 gene on chromosome 8. (PMID: 7638222) Sipley J.D. … Anderson C.W. (Proc. Natl. Acad. Sci. U.S.A. 1995) 2 3 4 22 64
- Tagging single nucleotide polymorphisms in phosphoinositide-3-kinase-related protein kinase genes involved in DNA damage &quot;checkpoints&quot; and lung cancer susceptibility. (PMID: 18451257) Hu Z. … Shen H. (Clin. Cancer Res. 2008) 3 22 46 64
- Autophosphorylation of the DNA-dependent protein kinase catalytic subunit is required for rejoining of DNA double-strand breaks. (PMID: 12231622) Chan D.W. … Chen D.J. (Genes Dev. 2002) 3 4 22 64
- Frameshift mutation in PRKDC, the gene for DNA-PKcs, in the DNA repair-defective, human, glioma-derived cell line M059J. (PMID: 11418067) Anderson C.W. … Allalunis-Turner M.J. (Radiat. Res. 2001) 3 4 22 64
- MCM4 and PRKDC, human genes encoding proteins MCM4 and DNA-PKcs, are close neighbours located on chromosome 8q12-->q13. (PMID: 9284934) Ladenburger E.M. … Knippers R. (Cytogenet. Cell Genet. 1997) 3 4 22 64
Products for PRKDC Gene
- R&D Systems Antibodies for PRKDC (DNA-PKcs)
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for PRKDC
- AM06582SU-N
- AM31045PU-N
- AM31046PU-N
- AM33109PU-S
- AP00045PU-N
- AP02448PU-N
- AP02448PU-S
- AP02696PU-N
- AP02696PU-S
- AP06088PU-N
- AP07623PU-N
- AP12899PU-N
- AP20223PU-N
- AP20936PU-N
- AP21024PU-N
- TA309996
- TA314386
- TA314387
- TA314388
- TA314389
- TA319347
- TA324104
- TA327814
- TA333275
- TA336925
- TA347028
- TA347029
- TA347655
- TA347982
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for PRKDC
- Origene Custom Protein Services for PRKDC
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for PRKDC
- Browse OriGene Inhibitory RNA Products For PRKDC
- OriGene qPCR primer pairs for PRKDC
- OriGene CRISPR knockouts for PRKDC
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For PRKDC
- GenScript: Next-day shipping cDNA ORF clone for PRKDC in any vector
- GenScript Custom Purified and Recombinant Proteins Services for PRKDC
- GenScript Custom Assay Services for PRKDC
- GenScript Custom overexpressing Cell Line Services for PRKDC
- GenScript: Design CRISPR guide RNA sequences for PRKDC
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for PRKDC
- Cell Signaling Technology (CST) Antibodies for PRKDC (DNAPK)
- Search for Antibodies & Assays
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Proteins
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for PRKDC
- Novus Biologicals proteins for PRKDC
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for PRKDC
- Abcam proteins for PRKDC
- Search for Assays for PRKDC at Abcam
- Find your target
- Search knockout validated antibodies
- Browse monoclonal antibodies
- Addgene plasmids for PRKDC
- antibodies-online Antibodies for PRKDC: See all 393
- antibodies-online Kits for PRKDC: See all 4
- antibodies-online Proteins for PRKDC: See all 4
- Search antibodies-online for peptides
- GeneTex PRKDC antibody for PRKDC
- Search GeneTex for Proteins for PRKDC
- ViGene Biosciences adenoviral particle packaged cDNA for PRKDC gene
- ViGene Biosciences lentiviral particle packaged cDNA for PRKDC gene
- ViGene Biosciences ready-to-package AAV shRNAs for PRKDC gene
- Search ViGene Biosciences for PRKDC
- Santa Cruz Biotechnology (SCBT) Antibodies for PRKDC
- Search Santa Cruz Biotechnology (SCBT) for PRKDC siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for PRKDC
- Cyagen custom Knockout/knockin (KOKI) mouse models for PRKDC
- VectorBuilder custom plasmid, inducible vectors for PRKDC
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PRKDC
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for PRKDC Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer