PRKDC Gene
protein-coding GIFtS: 68
GCID: GC08M048685
|
|
protein kinase, DNA-activated, catalytic polypeptide
(Previous symbols: HYRC, HYRC1)
| |
Aliases
for PRKDC gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Protein Kinase, DNA-Activated, Catalytic Polypeptide1 2 | | P3501 | | DNPK11 2 3 5 | | DNA-PK Catalytic Subunit2 3 | | HYRC11 2 3 5 | | P4601 | | DNA-PKcs1 2 3 | | EC 2.7.11.13 8 | | HYRC1 2 3 | | DNA-Dependent Protein Kinase Catalytic Subunit2 | | DNAPK1 2 | | Hyper-Radiosensitivity Of Murine Scid Mutation, Complementing 12 | | XRCC71 2 | | |
Export aliases for PRKDC gene to outside databasesPrevious GC identifers: GC08P047830 GC08M048689 GC08M048408 GC08M048735 GC08M048848 |
Summaries
for PRKDC gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for PRKDC:
This gene encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). It functions with the Ku70/Ku80heterodimer protein in DNA double strand break repair and recombination. The protein encoded is a member of thePI3/PI4-kinase family.(provided by RefSeq, Jul 2010)
UniProtKB/Swiss-Prot: PRKDC_HUMAN, P78527Function: Serine/threonine-protein kinase that acts as a molecular sensor for DNA damage. Involved in DNA nonhomologousend joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. Must be bound to DNA toexpress its catalytic properties. Promotes processing of hairpin DNA structures in V(D)J recombination by activationof the hairpin endonuclease artemis (DCLRE1C). The assembly of the DNA-PK complex at DNA ends is also required for theNHEJ ligation step. Required to protect and align broken ends of DNA. May also act as a scaffold protein to aid thelocalization of DNA repair proteins to the site of damage. Found at the ends of chromosomes, suggesting a further rolein the maintenance of telomeric stability and the prevention of chromosomal end fusion. Also involved in modulation oftranscription. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates 'Ser-139' of histone variantH2AX/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 phosphorylateC1D not only in the presence of linear DNA but also in the presence of supercoiled DNA. Ability to phosphorylatep53/TP53 in the presence of supercoiled DNA is dependent on C1D
 summary
for PRKDC: 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, V(D)J recombination and telomere stabilization. DNA-PK is
activated by phosphorylation by ATM/ATR following DNA damage and is inhibited by wortmannin. DNA-PK must be
bound to DNA in order to exhibit its catalytic properties and has multiple targets including c-Abl, histone
H1, c-jun, p53, c-MYC and more.
Gene Wiki entry for PRKDC (DNA-PKcs)
|
Genomic Views
for PRKDC gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000008.10 NC_018919.1 NT_008183.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the PRKDC gene promoter:
Nkx3-1 STAT1 Nkx3-1 v4 p53 Nkx3-1 v1 STAT1alpha Nkx3-1 v2 Nkx3-1 v3
Other transcription factors
Search SABiosciences Chromatin IP Primers for PRKDC
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRKDC |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 8q11 Ensembl cytogenetic band: 8q11.21 HGNC cytogenetic band: 8q11PRKDC Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 8 GeneLoc Exon Structure GeneLoc location for GC08M048685: view genomic region
(about GC identifiers)
Start:
|
48,685,669 bp from pter |
End:
|
48,872,743 bp from pter |
Size:
|
187,075 bases |
Orientation:
|
minus strand |
|
Proteins
for PRKDC gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: PRKDC_HUMAN, P78527 (See
protein sequence)Recommended Name: DNA-dependent protein kinase catalytic subunit Size: 4128 amino acids; 469089 Da
Subunit: DNA-PK is a heterotrimer of PRKDC and the Ku p70-p86 (XRCC6-XRCC5) dimer. Formation of this complex may bepromoted by interaction with ILF3. Associates with the DNA-bound Ku heterodimer, but it can also bind to and beactivated by free DNA. 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 ofthis protein. Interacts with C1D. Interacts with TTI1 and TELO2
Subcellular location: Nucleus. Nucleus, nucleolus
Secondary accessions: P78528 Q13327 Q13337 Q14175 Q59H99 Q7Z611 Q96SE6 Q9UME3Alternative splicing: 2 isoforms: P78527-1 P78527-2 Explore the universe of human proteins at neXtProt for PRKDC: NX_P78527
Post-translational modifications:
Autophosphorylated on Thr-2609, Thr-2638 and Thr-2647. Thr-2609 is a DNA damage-inducible phosphorylation site(inducible with ionizing radiation, IR). Autophosphorylation induces a conformational change that leads to remodelingof the DNA-PK complex, requisite for efficient end processing and DNA repair1
S-nitrosylated by GAPDH (By similarity)1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P78527
4/31 DME Specific Peptides for PRKDC (P78527) (see all 31)
PRKDC Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001075109.1 NP_008835.5
ENSEMBL proteins: ENSP00000442177 ENSP00000441157 ENSP00000313420 ENSP00000345182 Reactome Protein details: P78527
Human Recombinant Protein Products:
Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table
PRKDC for ontologies About GeneDecksing
PRKDC Antibody Products:
Assay Products for PRKDC: |
Protein
Domains /
Families
for PRKDC gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PRKDC for domains About GeneDecksing
5/9 InterPro domains/families (see all 9):Graphical View of Domain Structure for InterPro Entry P78527ProtoNet protein and cluster: P78527 4 Blocks protein families: IPB000357 HEAT repeat IPB000403 Phosphatidylinositol 3- and 4-kinase IPB003151 PIK-related kinase IPB012582 NUC194
UniProtKB/Swiss-Prot: PRKDC_HUMAN, P78527Similarity: Belongs to the PI3/PI4-kinase familySimilarity: Contains 1 FAT domainSimilarity: Contains 1 FATC domainSimilarity: Contains 2 HEAT repeatsSimilarity: Contains 1 PI3K/PI4K domainSimilarity: Contains 3 TPR repeats |
Function
for PRKDC gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: PRKDC_HUMAN, P78527Function: Serine/threonine-protein kinase that acts as a molecular sensor for DNA damage. Involved in DNA nonhomologousend joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. Must be bound to DNA toexpress its catalytic properties. Promotes processing of hairpin DNA structures in V(D)J recombination by activationof the hairpin endonuclease artemis (DCLRE1C). The assembly of the DNA-PK complex at DNA ends is also required for theNHEJ ligation step. Required to protect and align broken ends of DNA. May also act as a scaffold protein to aid thelocalization of DNA repair proteins to the site of damage. Found at the ends of chromosomes, suggesting a further rolein the maintenance of telomeric stability and the prevention of chromosomal end fusion. Also involved in modulation oftranscription. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates 'Ser-139' of histone variantH2AX/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 phosphorylateC1D not only in the presence of linear DNA but also in the presence of supercoiled DNA. Ability to phosphorylatep53/TP53 in the presence of supercoiled DNA is dependent on C1DCatalytic activity: ATP + a protein = ADP + a phosphoproteinEnzyme regulation: Inhibited by wortmannin. Activity of the enzyme seems to be attenuated by autophosphorylation Genatlas biochemistry entry for PRKDC: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)Jrecombination,same as HYRC1
Enzyme Number (IUBMB): EC 2.7.11.11 2
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PRKDC
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PRKDC
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): PRKDC (NM_006904) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PRKDC | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat PRKDC |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRKDC |
Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table
PRKDC for ontologies About GeneDecksing
4 GenomeRNAi human phenotypes for PRKDC:
Animal Models:
Mouse knock-outs for PRKDC: Prkdctm1Fwa Prkdctm1Gcl Prkdctm1Get
15/22 MGI mutant phenotypes (inferred from 10 alleles ) (MGI details for Prkdc) (see all 22):
PRKDC for phenotypes About GeneDecksing
|
Pathways & Interactions
for PRKDC gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/18 super-pathways (see all 18) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Non-homologous end-joining | | | 2 | Processing of DNA ends prior to end rejoining | | | 3 | Granzyme Pathway | | | 4 | Cell cycle | | | 5 | Chks in Checkpoint Regulation | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 EMD Millipore Pathways for PRKDC
5/8 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PRKDC (see all 8)
2 
Cell Signaling Technology (CST) Pathways for PRKDC
2  GeneGo (Thomson Reuters) Pathways for PRKDC
5  BioSystems Pathways for PRKDC
4 
Reactome Pathways for PRKDC
2 
Kegg Pathways (Kegg details for PRKDC):
PRKDC for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PRKDC
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/994 Interacting proteins for PRKDC (P785271, 2, 3 ENSP000003134204) via UniProtKB, MINT, STRING, and/or I2D (see all 994)About this table
Gene Ontology (GO): 5/24 biological process terms (GO ID links to tree view) (see all 24): About this table
PRKDC for ontologies About GeneDecksing
|
Drugs & Compounds
for PRKDC gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
PRKDC for compounds About GeneDecksing
 |
Enzo Life Sciences drugs & compounds for PRKDC |
Compounds for PRKDC available from Tocris Bioscience About this table
| Compound | Action |
CAS
# |
|---|
| PI 103 hydrochloride | Inhibitor of PI 3-kinase, mTOR and DNA-PK | [371935-74-9] | | Compound 401 | Selective DNA-PK and mTOR inhibitor | [168425-64-7] | | DMNB | DNA-PK inhibitor | [20357-25-9] | | PP 121 | Dual kinase inhibitor; inhibits PI 3K family kinases | [1092788-83-4] | | NU 7026 | Selective DNA-PK inhibitor | [154447-35-5] |
2 HMDB Compounds for PRKDC About this table
8 Novoseek chemical compound relationships for PRKDC gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| p-350 |
85 |
16 |
7855601 (4), 7724535 (3), 8538653 (3) |
| phosphatidylinositol |
56.6 |
5 |
10500142 (1), 9808536 (1), 12695618 (1), 19071136 (1) (see all 5) |
| threonine |
53.1 |
3 |
19887394 (1), 9539023 (1), 17638905 (1) |
| pkcs |
49.6 |
3 |
19029686 (1), 17110150 (1), 16168844 (1) |
| serine |
38.1 |
3 |
19887394 (1), 9539023 (1), 17638905 (1) |
| camptothecin |
18.6 |
1 |
15218034 (1) |
| adriamycin |
5.08 |
1 |
9406235 (1) |
| nitric oxide |
0 |
2 |
10854324 (1) |
Search CenterWatch for drugs/clinical trials and news about PRKDC
|
Transcripts
for PRKDC gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for PRKDC gene (2 alternative transcripts): NM_001081640.1 NM_006904.6 Unigene Cluster for PRKDC: Protein kinase, DNA-activated, catalytic polypeptide Hs.491682 [show with all ESTs]Unigene Representative Sequence: NM_00690413 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000523565(uc003xqi.3 uc003xqj.3) ENST00000518216 ENST00000536429
ENST00000536483 ENST00000521331 ENST00000536710 ENST00000432581 ENST00000546304
ENST00000541488 ENST00000535375 ENST00000540819 ENST00000314191 ENST00000338368
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PRKDC
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PRKDC
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): PRKDC (NM_006904) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PRKDC | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat PRKDC |
Additional cDNA sequence: AB208860.1 AK022387.1 AK296833.1 BC017494.1 BC024963.1 BC037968.1 U34994.3 U35835.1 U47077.5 24/25 DOTS entries (see all 25): DT.447515 DT.91810315 DT.100798110 DT.100798105 DT.86840995 DT.91724527 DT.118545 DT.95155071 DT.99952979 DT.120635215 DT.207420 DT.40132575 DT.40194022 DT.91926822 DT.91986268 DT.92024383 DT.95073263 DT.95155074 DT.95155076 DT.95261648 DT.97822103 DT.100662770 DT.120635274 DT.121449421 24/489 AceView cDNA sequences (see all 489): BQ028915 AU130344 BF939050 AI799494 U47077 AU140342 BU429398 BQ683996 BQ222123 AI140691 CD517198 BQ050790 BP345147 BC024963 AI127415 BG250653 BM767267 BP870524 AV729379 AI935821 CB850939 AL521287 CB143777 BQ057615
GeneLoc Exon Structure
|
Expression
for PRKDC gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| PRKDC expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGCAGTCCCT
About this image
See PRKDC Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PRKDC
SOURCE GeneReport for Unigene cluster: Hs.491682
SABiosciences Expression via Pathway-Focused PCR Arrays including PRKDC (see all 6):
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PRKDC
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PRKDC | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PRKDC | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PRKDC | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRKDC |
Orthologs
for PRKDC gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for PRKDC gene from 7/20 species (see all 20) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Prkdc1 , 5 |
protein kinase, DNA activated, catalytic polypeptide less1, 5 |
81.23(n)1
79.37(a)1 |
|
16 (10.09 cM)5
190901 NM_011159.21 NP_035289.21
156378665 |
chicken
(Gallus gallus) |
Aves |
PRKDC1 |
protein kinase, DNA-activated, catalytic polypeptide less |
70.36(n)
69.03(a) |
|
395376 NM_204658.1 NP_989989.1 |
lizard
(Anolis carolinensis) |
Reptilia |
PRKDC6ATM6 |
-- |
67(a)6(a) |
1 ↔ 1possible ortholog |
GL343207.1(1548123-1668582) GL343319.1(1173-53757) |
African clawed frog
(Xenopus laevis) |
Amphibia |
prkdc-A2 |
protein kinase, DNA-activated, catalytic polypeptide less |
75.3(n) |
|
AB016434.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
wufa96e122 |
Transcribed sequence with weak similarity to protein prf2205317A (H.sapiens) 2205317A DNA-activated protein kinase [Homo sapiens] less |
75.2(n) |
|
57075843 |
mosquito
(Anopheles gambiae) |
Insecta |
AgaP_AGAP0039671 |
AGAP003967-PA |
40.76(n)
27.91(a) |
|
1278787 XM_318419.4 XP_318419.4 |
worm
(Caenorhabditis elegans) |
Secernentea |
atm-16 |
Serine/threonine-protein kinase ATM |
17(a) |
1 ↔ 1 |
I(203037-208467) |
ENSEMBL Gene Tree for PRKDC (if available)
TreeFam Gene Tree for PRKDC (if available) |
Paralogs
for PRKDC gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for PRKDC gene
- MTOR2
PRKDC for paralogs About GeneDecksing
|
Genomic Variants
for PRKDC gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 8 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for PRKDC (48685669 - 48872743 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for PRKDC
2 CNVs: 3730 31441
Human Gene Mutation Database (HGMD): PRKDC
| SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for PRKDC gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
PRKDC for disorders About GeneDecksing
OMIM gene information: 600899
OMIM disorders: --
20/54  diseases for PRKDC (see all 54): About MalaCardsxeroderma pigmentosum, group a severe combined immunodeficiency xeroderma pigmentosum nijmegen breakage syndrome
adenomatous polyposis coli plasmodium falciparum malaria artemis deficiency combined immunodeficiency
ataxia telangiectasia oral squamous cell carcinoma squamous cell carcinoma sporadic breast cancer
chronic lymphocytic leukemia lymphocytic leukemia burkitt's lymphoma werner syndrome
malignant glioma renal cell carcinoma lung cancer susceptibility polyposis
4 diseases from the University of Copenhagen DISEASES database for PRKDC:Severe combined immunodeficiency Ataxia telangiectasia Cancer Werner syndrome 7 Novoseek disease relationships for PRKDC gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| ataxia telangiectasia |
82.3 |
24 |
19029686 (1), 19887394 (1), 15758953 (1), 18451257 (1) (see all 17) |
| severe combined immunodeficiency |
66.7 |
5 |
9205842 (1), 9539023 (1), 12695618 (1), 9380717 (1) |
| glioma |
28.1 |
2 |
19435898 (1), 18202016 (1) |
| tumors |
20.1 |
4 |
12670903 (1), 10629611 (1), 12377759 (1), 11096417 (1) |
| cancer |
16.7 |
3 |
16077955 (1), 17143500 (1), 19281848 (1) |
| glioblastoma |
15.2 |
1 |
10629611 (1) |
| melanoma |
0 |
2 |
16000590 (1), 15179184 (1) |
Genetic Association Database (GAD): PRKDC
Human Genome Epidemiology (HuGE) Navigator: PRKDC (25 documents)
Export disorders for PRKDC gene to outside databases
|
Publications
for PRKDC gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for PRKDC gene, integrated from 9 sources (see all 469):
(articles sorted by number of sources associating them with PRKDC) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Gene for the catalytic subunit of the human DNA-activated protein kinase maps to the site of the XRCC7 gene on chromosome 8. (PubMed id 7638222)1, 2, 3, 9 Sipley J.D....Anderson C.W. (1995)
- Frameshift mutation in PRKDC, the gene for DNA-PKcs, in the DNA repair-defective, human, glioma-derived cell line M059J. (PubMed id 11418067)1, 2, 9 Anderson C.W....Allalunis-Turner M.J. (2001)
- MCM4 and PRKDC, human genes encoding proteins MCM4 and DNA-PKcs, are close neighbours located on chromosome 8q12-->q13. (PubMed id 9284934)1, 2, 9 Ladenburger E.M.... Knippers R. (1997)
- Conserved modes of recruitment of ATM, ATR and DNA-PKcs to sites of DNA damage. (PubMed id 15758953)1, 2, 9 Falck J.... Jackson S.P. (2005)
- Autophosphorylation of the DNA-dependent protein kinase catalytic subunit is required for rejoining of DNA double-strand breaks. (PubMed id 12231622)1, 2, 9 Chan D.W.... Chen D.J. (2002)
- Tti1 and Tel2 are critical factors in mammalian targe t of rapamycin complex assembly. (PubMed id 20427287)1, 2 Kaizuka T....Mizushima N. (2010)
- Tel2 structure and function in the Hsp90-dependent ma turation of mTOR and ATR complexes. (PubMed id 20801936)1, 2 Takai H....Pavletich N.P. (2010)
- XRCC1 is phosphorylated by DNA-dependent protein kinase in response to DNA damage. (PubMed id 16397295)1, 2 Levy N....Menissier-de Murcia J. (2006)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
- Artemis deficiency confers a DNA double-strand break repair defect and Artemis phosphorylation status is altered by DNA damage and cell cycle progression. (PubMed id 15811628)1, 2 Wang J.... Yannone S.M. (2005)
|
External Searches for PRKDC gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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|
|
Genome Databases showing PRKDC gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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|
|
Other Databases showing PRKDC gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing PRKDC gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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|
|
About This Section
| Patent Information for PRKDC gene:
Search GeneIP for patents involving PRKDC
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for PRKDC gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
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 | |
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| | |  | OriGene Antibodies for PRKDC | | OriGene shRNA RFP for PRKDC | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PRKDC | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PRKDC | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for PRKDC | | OriGene 3'-UTR Clone for PRKDC | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PRKDC | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PRKDC | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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