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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Enzymes Human disease related genes Plasma proteins Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
8
Cytoband
q11.21
Chromosome location (bp)
47773111 - 47960178
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Serine/threonine-protein kinase that acts as a molecular sensor for DNA damage 1,2,3,4. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination 5,6,7,8,9. Must be bound to DNA to express its catalytic properties 10. Promotes processing of hairpin DNA structures in V(D)J recombination by activation of the hairpin endonuclease artemis (DCLRE1C) 11. Recruited by XRCC5 and XRCC6 to DNA ends and is required to (1) protect and align broken ends of DNA, thereby preventing their degradation, (2) and sequester the DSB for repair by NHEJ 12,13,14,15,16. Act as a scaffold protein to aid the localization of DNA repair proteins to the site of damage 17,18,19,20. The assembly of the DNA-PK complex at DNA ends is also required for the NHEJ ligation step 21,22,23,24. Found at the ends of chromosomes, suggesting a further role in the maintenance of telomeric stability and the prevention of chromosomal end fusion (By similarity). Also involved in modulation of transcription 25,26,27,28. As part of the DNA-PK complex, involved in the early steps of ribosome assembly by promoting the processing of precursor rRNA into mature 18S rRNA in the small-subunit processome 29. Binding to U3 small nucleolar RNA, recruits PRKDC and XRCC5/Ku86 to the small-subunit processome 30. Recognizes the substrate consensus sequence [ST]-Q 31,32,33,34. Phosphorylates 'Ser-139' of histone variant H2AX, thereby regulating DNA damage response mechanism 35,36. Phosphorylates ASF1A, DCLRE1C, c-Abl/ABL1, histone H1, HSPCA, c-jun/JUN, p53/TP53, PARP1, POU2F1, DHX9, FH, SRF, NHEJ1/XLF, XRCC1, XRCC4, XRCC5, XRCC6, WRN, MYC and RFA2 37,38,39,40,41,42,43,44,45,46,47,48,49,50,51,52,53,54,55,56,57,58. Can phosphorylate C1D not only in the presence of linear DNA but also in the presence of supercoiled DNA 59. Ability to phosphorylate p53/TP53 in the presence of supercoiled DNA is dependent on C1D 60. 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 mechanism (By similarity). Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway 61. Also regulates the cGAS-STING pathway by catalyzing phosphorylation of CGAS, thereby impairing CGAS oligomerization and activation 62. Also regulates the cGAS-STING pathway by mediating phosphorylation of PARP1 63....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Biological rhythms, DNA damage, DNA recombination, DNA repair, Immunity, Innate immunity, Ribosome biogenesis
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
P78527 [Direct mapping] DNA-dependent protein kinase catalytic subunit
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Enzymes ENZYME proteins Transferases Kinases Atypical kinases MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Potential drug targets Human disease related genes Immune system diseases Primary immunodeficiency Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000166[nucleotide binding] GO:0000460[maturation of 5.8S rRNA] GO:0000723[telomere maintenance] GO:0000781[chromosome, telomeric region] GO:0001756[somitogenesis] GO:0001933[negative regulation of protein phosphorylation] GO:0002218[activation of innate immune response] GO:0002326[B cell lineage commitment] GO:0002327[immature B cell differentiation] GO:0002328[pro-B cell differentiation] GO:0002360[T cell lineage commitment] GO:0002376[immune system process] GO:0003677[DNA binding] GO:0003690[double-stranded DNA binding] GO:0003723[RNA binding] GO:0004672[protein kinase activity] GO:0004674[protein serine/threonine kinase activity] GO:0004677[DNA-dependent protein kinase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005730[nucleolus] GO:0005829[cytosol] GO:0005958[DNA-dependent protein kinase-DNA ligase 4 complex] GO:0006281[DNA repair] GO:0006302[double-strand break repair] GO:0006303[double-strand break repair via nonhomologous end joining] GO:0006310[DNA recombination] GO:0006468[protein phosphorylation] GO:0006974[cellular response to DNA damage stimulus] GO:0007420[brain development] GO:0007507[heart development] GO:0008630[intrinsic apoptotic signaling pathway in response to DNA damage] GO:0010212[response to ionizing radiation] GO:0010332[response to gamma radiation] GO:0016020[membrane] GO:0016233[telomere capping] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0018105[peptidyl-serine phosphorylation] GO:0018107[peptidyl-threonine phosphorylation] GO:0019219[regulation of nucleobase-containing compound metabolic process] GO:0019899[enzyme binding] GO:0019904[protein domain specific binding] GO:0030098[lymphocyte differentiation] GO:0031571[mitotic G1 DNA damage checkpoint signaling] GO:0031648[protein destabilization] GO:0032040[small-subunit processome] GO:0032869[cellular response to insulin stimulus] GO:0032991[protein-containing complex] GO:0032993[protein-DNA complex] GO:0033077[T cell differentiation in thymus] GO:0033151[V(D)J recombination] GO:0033152[immunoglobulin V(D)J recombination] GO:0033153[T cell receptor V(D)J recombination] GO:0034462[small-subunit processome assembly] GO:0034511[U3 snoRNA binding] GO:0035234[ectopic germ cell programmed cell death] GO:0036211[protein modification process] GO:0042254[ribosome biogenesis] GO:0042752[regulation of circadian rhythm] GO:0043065[positive regulation of apoptotic process] GO:0043066[negative regulation of apoptotic process] GO:0045087[innate immune response] GO:0045621[positive regulation of lymphocyte differentiation] GO:0045648[positive regulation of erythrocyte differentiation] GO:0045727[positive regulation of translation] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048511[rhythmic process] GO:0048584[positive regulation of response to stimulus] GO:0048660[regulation of smooth muscle cell proliferation] GO:0050678[regulation of epithelial cell proliferation] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070418[DNA-dependent protein kinase complex] GO:0070419[nonhomologous end joining complex] GO:0080135[regulation of cellular response to stress] GO:0097681[double-strand break repair via alternative nonhomologous end joining] GO:0106310[protein serine kinase activity] GO:1902036[regulation of hematopoietic stem cell differentiation] GO:1905221[positive regulation of platelet formation] GO:2001034[positive regulation of double-strand break repair via nonhomologous end joining]
P78527 [Direct mapping] DNA-dependent protein kinase catalytic subunit
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Enzymes ENZYME proteins Transferases Kinases Atypical kinases SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Potential drug targets Human disease related genes Immune system diseases Primary immunodeficiency Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000166[nucleotide binding] GO:0000460[maturation of 5.8S rRNA] GO:0000723[telomere maintenance] GO:0000781[chromosome, telomeric region] GO:0001933[negative regulation of protein phosphorylation] GO:0002218[activation of innate immune response] GO:0002376[immune system process] GO:0003677[DNA binding] GO:0003690[double-stranded DNA binding] GO:0003723[RNA binding] GO:0004672[protein kinase activity] GO:0004674[protein serine/threonine kinase activity] GO:0004677[DNA-dependent protein kinase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005730[nucleolus] GO:0005829[cytosol] GO:0005958[DNA-dependent protein kinase-DNA ligase 4 complex] GO:0006281[DNA repair] GO:0006302[double-strand break repair] GO:0006303[double-strand break repair via nonhomologous end joining] GO:0006310[DNA recombination] GO:0006468[protein phosphorylation] GO:0006974[cellular response to DNA damage stimulus] GO:0008630[intrinsic apoptotic signaling pathway in response to DNA damage] GO:0016020[membrane] GO:0016233[telomere capping] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0018105[peptidyl-serine phosphorylation] GO:0018107[peptidyl-threonine phosphorylation] GO:0019219[regulation of nucleobase-containing compound metabolic process] GO:0019904[protein domain specific binding] GO:0031571[mitotic G1 DNA damage checkpoint signaling] GO:0032040[small-subunit processome] GO:0032869[cellular response to insulin stimulus] GO:0032991[protein-containing complex] GO:0032993[protein-DNA complex] GO:0033152[immunoglobulin V(D)J recombination] GO:0034462[small-subunit processome assembly] GO:0034511[U3 snoRNA binding] GO:0036211[protein modification process] GO:0042254[ribosome biogenesis] GO:0042752[regulation of circadian rhythm] GO:0043066[negative regulation of apoptotic process] GO:0045087[innate immune response] GO:0045621[positive regulation of lymphocyte differentiation] GO:0045648[positive regulation of erythrocyte differentiation] GO:0045727[positive regulation of translation] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048511[rhythmic process] GO:0048584[positive regulation of response to stimulus] GO:0048660[regulation of smooth muscle cell proliferation] GO:0050678[regulation of epithelial cell proliferation] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070418[DNA-dependent protein kinase complex] GO:0070419[nonhomologous end joining complex] GO:0080135[regulation of cellular response to stress] GO:0097681[double-strand break repair via alternative nonhomologous end joining] GO:0106310[protein serine kinase activity] GO:1902036[regulation of hematopoietic stem cell differentiation] GO:1905221[positive regulation of platelet formation] GO:2001034[positive regulation of double-strand break repair via nonhomologous end joining]
H0YG84 [Direct mapping] DNA-dependent protein kinase catalytic subunit
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
F5GX40 [Direct mapping] DNA-dependent protein kinase catalytic subunit
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
MEMSAT-SVM predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
