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Aliases for PRKDC Gene

Aliases for PRKDC Gene

  • Protein Kinase, DNA-Activated, Catalytic Polypeptide 2 3 5
  • DNA-PK Catalytic Subunit 3 4
  • EC 2.7.11.1 4 63
  • DNA-PKcs 3 4
  • HYRC1 3 4
  • DNPK1 3 4
  • HYRC 3 4
  • P460 3 4
  • Hyper-Radiosensitivity Of Murine Scid Mutation, Complementing 1 3
  • DNAPK 3
  • IMD26 3
  • XRCC7 3
  • P350 3

External Ids for PRKDC Gene

Previous HGNC Symbols for PRKDC Gene

  • HYRC
  • HYRC1

Previous GeneCards Identifiers for PRKDC Gene

  • GC08P047830
  • GC08M048689
  • GC08M048408
  • GC08M048735
  • GC08M048848
  • GC08M048685

Summaries for PRKDC Gene

Entrez Gene Summary 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 severe combined immunodeficiency due to dna-pkcs deficiency. Among its related pathways are Immune System and Gemtuzumab ozogamicin Pathway, Pharmacokinetics/Pharmacodynamics. 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.

Tocris Summary for PRKDC Gene

  • 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.

Gene Wiki entry for PRKDC Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRKDC Gene

Genomics for PRKDC Gene

Regulatory Elements for PRKDC Gene

Promoters for PRKDC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PRKDC on UCSC Golden Path with GeneCards custom track

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:
PRKDC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRKDC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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.

    Alternative splice isoforms for PRKDC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRKDC Gene

Proteomics data for PRKDC Gene at MOPED

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 Lys 108, Lys 117, Lys 148, Lys 205, Lys 225, Lys 236, Lys 254, Lys 263, Lys 310, Lys 337, Lys 374, Lys 471, Lys 493, Lys 520, Lys 525, Lys 681, Lys 689, Lys 692, Lys 700, Lys 801, Lys 828, Lys 838, Lys 868, Lys 881, Lys 963, Lys 1042, Lys 1051, Lys 1057, Lys 1074, Lys 1193, Lys 1209, Lys 1334, Lys 1361, Lys 1407, Lys 1412, Lys 1422, Lys 1456, Lys 1489, Lys 1617, Lys 1627, Lys 1642, Lys 1744, Lys 1807, Lys 1857, Lys 1869, Lys 1875, Lys 1895, Lys 1913, Lys 1917, Lys 1973, Lys 1985, Lys 2102, Lys 2127, Lys 2132, Lys 2259, Lys 2313, Lys 2334, Lys 2359, Lys 2369, Lys 2418, Lys 2433, Lys 2441, Lys 2683, Lys 2694, Lys 2715, Lys 2717, Lys 2738, Lys 2764, Lys 2786, Lys 2806, Lys 2835, Lys 2908, Lys 2928, Lys 2950, Lys 3067, Lys 3128, Lys 3147, Lys 3158, Lys 3172, Lys 3192, Lys 3196, Lys 3248, Lys 3257, Lys 3260, Lys 3302, Lys 3318, Lys 3355, Lys 3372, Lys 3426, Lys 3455, Lys 3621, Lys 3631, Lys 3655, Lys 3669, Lys 3691, Lys 3710, Lys 3753, Lys 3825, Lys 3840, Lys 3845, Lys 3849, Lys 3860, Lys 3884, Lys 4007, Lys 4014, Lys 4023, Lys 4036, Lys 4050, Lys 4070, and Lys 4105
  • Modification sites at PhosphoSitePlus

Other Protein References for PRKDC Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PRKDC (DNAPK)

Domains & Families for PRKDC Gene

Suggested Antigen Peptide Sequences for PRKDC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P78527

UniProtKB/Swiss-Prot:

PRKDC_HUMAN :
  • Contains 1 FAT domain.
  • Belongs to the PI3/PI4-kinase family.
  • Contains 2 HEAT repeats.
Domain:
  • Contains 1 FAT domain.
  • Contains 1 FATC domain.
  • Contains 1 PI3K/PI4K domain.
Family:
  • Belongs to the PI3/PI4-kinase family.
Similarity:
  • Contains 2 HEAT repeats.
  • Contains 3 TPR repeats.
genes like me logo Genes that share domains with PRKDC: view

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

Gene Ontology (GO) - Molecular Function for PRKDC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0004674 protein serine/threonine kinase activity TAS --
genes like me logo Genes that share ontologies with PRKDC: view

Phenotypes for PRKDC Gene

MGI mutant phenotypes for PRKDC:
inferred from 13 alleles
GenomeRNAi human phenotypes for PRKDC:
genes like me logo Genes that share phenotypes with PRKDC: view

Human Phenotype Ontology for PRKDC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PRKDC Gene

MGI Knock Outs for PRKDC:

Animal Model Products

miRNA for PRKDC Gene

miRTarBase miRNAs that target PRKDC

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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PRKDC Gene COMPARTMENTS Subcellular localization image for PRKDC gene
Compartment Confidence
nucleus 5
cytosol 4

Gene Ontology (GO) - Cellular Components for PRKDC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0070419 nonhomologous end joining complex IDA 20383123
genes like me logo Genes that share ontologies with PRKDC: view

Pathways & Interactions for PRKDC Gene

genes like me logo Genes that share pathways with PRKDC: view

SIGNOR curated interactions for PRKDC Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for PRKDC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001756 somitogenesis IEA --
GO:0001933 negative regulation of protein phosphorylation ISS --
GO:0002328 pro-B cell differentiation IEA --
GO:0002377 immunoglobulin production IEA --
GO:0002638 negative regulation of immunoglobulin production IEA --
genes like me logo Genes that share ontologies with PRKDC: view

Drugs & Compounds for PRKDC Gene

(15) Drugs for PRKDC Gene - From: Novoseek, HMDB, DrugBank, DGIdb, ApexBio, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Caffeine Approved Nutra Antagonist, Target 339
Adenosine triphosphate Approved Nutra 0
SF1126 Investigational Pharma inhibitor, Target Kinase Inhibitors 0
Wortmannin Pharma PI3K inhibitor,selective and irreversible, Potent, irreversible inhibitor of PI 3-kinase. Also inhibitor of PLK1 0
NU 7026 Pharma DNPK inhibitor,ATP-competitive and potent, Selective DNA-PK inhibitor 0

(9) Additional Compounds for PRKDC Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Compound 401
168425-64-7
DMNB
20357-25-9
NU 7441
503468-95-9
PI 103 hydrochloride
371935-79-4

(5) Tocris Compounds for PRKDC Gene

Compound Action Cas Number
Compound 401 Selective DNA-PK and mTOR inhibitor 168425-64-7
DMNB DNA-PK inhibitor 20357-25-9
NU 7026 Selective DNA-PK inhibitor 154447-35-5
NU 7441 Potent and selective DNA-PK inhibitor 503468-95-9
PI 103 hydrochloride Inhibitor of PI 3-kinase, mTOR and DNA-PK 371935-79-4

(6) ApexBio Compounds for PRKDC Gene

Compound Action Cas Number
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
Torin 2 MTOR inhibitor,highly potent and selective 1223001-51-1
Wortmannin PI3K inhibitor,selective and irreversible 19545-26-7
genes like me logo Genes that share compounds with PRKDC: view

Drug Products

Transcripts for PRKDC Gene

Unigene Clusters for PRKDC Gene

Protein kinase, DNA-activated, catalytic polypeptide:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PRKDC Gene

No ASD Table

Relevant External Links for PRKDC Gene

GeneLoc Exon Structure for
PRKDC
ECgene alternative splicing isoforms for
PRKDC

Expression for PRKDC Gene

mRNA expression in normal human tissues for PRKDC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PRKDC Gene

This gene is overexpressed in Bone (14.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PRKDC Gene



SOURCE GeneReport for Unigene cluster for PRKDC Gene Hs.491682

genes like me logo Genes that share expression patterns with PRKDC: view

Protein tissue co-expression partners for PRKDC Gene

- Elite partner

Primer Products

In Situ Assay Products

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.

Orthologs for PRKDC Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PRKDC 35
  • 78.87 (n)
  • 78.13 (a)
PRKDC 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRKDC 35
  • 85.29 (n)
  • 83.26 (a)
PRKDC 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prkdc 35
  • 81.24 (n)
  • 79.37 (a)
Prkdc 16
Prkdc 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PRKDC 35
  • 99.61 (n)
  • 99.54 (a)
PRKDC 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prkdc 35
  • 81.02 (n)
  • 78.94 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 79 (a)
OneToMany
-- 36
  • 71 (a)
OneToMany
-- 36
  • 77 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 75 (a)
OneToMany
-- 36
  • 79 (a)
OneToMany
-- 36
  • 80 (a)
OneToMany
chicken
(Gallus gallus)
Aves PRKDC 35
  • 70.37 (n)
  • 69.13 (a)
PRKDC 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRKDC 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prkdc 35
  • 66.03 (n)
  • 64.21 (a)
African clawed frog
(Xenopus laevis)
Amphibia prkdc-A 35
zebrafish
(Danio rerio)
Actinopterygii wu:fa96e12 35
  • 61.39 (n)
  • 59.25 (a)
wufa96e12 35
PRKDC 36
  • 58 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003967 35
  • 40.86 (n)
  • 28.25 (a)
fruit fly
(Drosophila melanogaster)
Insecta mei-41 36
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea atl-1 36
  • 14 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MEC1 36
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToOne
Species with no ortholog for PRKDC:
  • 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)

Evolution for PRKDC Gene

ENSEMBL:
Gene Tree for PRKDC (if available)
TreeFam:
Gene Tree for PRKDC (if available)

Paralogs for PRKDC Gene

Paralogs for PRKDC Gene

genes like me logo Genes that share paralogs with PRKDC: view

Variants for PRKDC Gene

Sequence variations from dbSNP and Humsavar for PRKDC Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
VAR_019179 -
VAR_019180 -
rs8178033 - 47,930,750(-) CCCAA(C/G)TTCAG reference, missense
rs8178040 - 47,929,865(-) AAAAT(A/G)AAATA reference, missense
rs8178046 - 47,929,148(-) ACTCT(A/C/T)CTGAA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PRKDC Gene

Variant ID Type Subtype PubMed ID
dgv2234e1 CNV Complex 17122850
nsv6179 CNV Loss 18451855
nsv8337 CNV Gain 18304495
nsv831309 CNV Loss 17160897
esv2663658 CNV Deletion 23128226
nsv6180 CNV Insertion 18451855

Variation tolerance for PRKDC Gene

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

HapMap Linkage Disequilibrium report
PRKDC
Human Gene Mutation Database (HGMD)
PRKDC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRKDC Gene

Disorders for PRKDC Gene

MalaCards: The human disease database

(12) MalaCards diseases for PRKDC Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
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

Genetic Association Database (GAD)
PRKDC
Human Genome Epidemiology (HuGE) Navigator
PRKDC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRKDC
genes like me logo Genes that share disorders with PRKDC: view

No data available for Genatlas for PRKDC Gene

Publications for PRKDC Gene

  1. 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 23 67
  2. Protein phosphatase 6 interacts with the DNA-dependent protein kinase catalytic subunit and dephosphorylates gamma-H2AX. (PMID: 20065038) Douglas P. … Lees-Miller S.P. (Mol. Cell. Biol. 2010) 3 23
  3. Transcriptional activation of DNA-dependent protein kinase catalytic subunit gene expression by oestrogen receptor-alpha. (PMID: 20111054) Medunjanin S. … Braun-Dullaeus R.C. (EMBO Rep. 2010) 3 23
  4. DNA double-strand break formation upon UV-induced replication stress activates ATM and DNA-PKcs kinases. (PMID: 19071136) Yajima H. … Chen B.P. (J. Mol. Biol. 2009) 3 23
  5. [Role of DNA-dependent protein kinase catalytic subunit in silica-induced DNA double-strand break repair in human embryo lung fibroblasts]. (PMID: 19224683) Zhang F.M. … Ye M. (Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi 2009) 3 23

Products for PRKDC Gene

Sources for PRKDC Gene

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