UniProtKB - P78527 (PRKDC_HUMAN)
DNA-dependent protein kinase catalytic subunit
PRKDC
Functioni
Catalytic activityi
Activity regulationi
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- DNA-dependent protein kinase activity Source: MGI
- double-stranded DNA binding Source: CAFA
- enzyme binding Source: Ensembl
- protein domain specific binding Source: CAFA
- protein kinase activity Source: CACAO
- protein serine/threonine kinase activity Source: UniProtKB
- RNA binding Source: UniProtKB
- transcription factor binding Source: BHF-UCL
- U3 snoRNA binding Source: UniProtKB
GO - Biological processi
- activation of innate immune response Source: UniProtKB
- B cell lineage commitment Source: Ensembl
- brain development Source: Ensembl
- cellular protein modification process Source: ProtInc
- cellular response to DNA damage stimulus Source: UniProtKB
- cellular response to insulin stimulus Source: BHF-UCL
- double-strand break repair Source: BHF-UCL
- double-strand break repair via alternative nonhomologous end joining Source: BHF-UCL
- double-strand break repair via nonhomologous end joining Source: Reactome
- ectopic germ cell programmed cell death Source: Ensembl
- heart development Source: Ensembl
- immunoglobulin V(D)J recombination Source: GO_Central
- innate immune response Source: UniProtKB-KW
- intrinsic apoptotic signaling pathway in response to DNA damage Source: GO_Central
- maturation of 5.8S rRNA Source: UniProtKB
- negative regulation of apoptotic process Source: CACAO
- negative regulation of cellular senescence Source: Ensembl
- negative regulation of immunoglobulin production Source: Ensembl
- negative regulation of protein phosphorylation Source: UniProtKB
- negative regulation of response to gamma radiation Source: Ensembl
- peptidyl-serine phosphorylation Source: UniProtKB
- peptidyl-threonine phosphorylation Source: UniProtKB
- positive regulation of apoptotic process Source: Ensembl
- positive regulation of developmental growth Source: Ensembl
- positive regulation of double-strand break repair via nonhomologous end joining Source: UniProtKB
- positive regulation of erythrocyte differentiation Source: UniProtKB
- positive regulation of fibroblast proliferation Source: Ensembl
- positive regulation of lymphocyte differentiation Source: UniProtKB
- positive regulation of platelet formation Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: BHF-UCL
- positive regulation of translation Source: UniProtKB
- positive regulation of type I interferon production Source: Reactome
- pro-B cell differentiation Source: Ensembl
- protein destabilization Source: Ensembl
- protein phosphorylation Source: UniProtKB
- protein ubiquitination Source: Reactome
- regulation of circadian rhythm Source: UniProtKB
- regulation of epithelial cell proliferation Source: BHF-UCL
- regulation of hematopoietic stem cell differentiation Source: UniProtKB
- regulation of smooth muscle cell proliferation Source: UniProtKB
- response to activity Source: Ensembl
- response to gamma radiation Source: Ensembl
- rhythmic process Source: UniProtKB-KW
- signal transduction involved in mitotic G1 DNA damage checkpoint Source: UniProtKB
- small-subunit processome assembly Source: UniProtKB
- somitogenesis Source: Ensembl
- spleen development Source: Ensembl
- T cell differentiation in thymus Source: Ensembl
- T cell lineage commitment Source: Ensembl
- T cell receptor V(D)J recombination Source: Ensembl
- telomere capping Source: BHF-UCL
- telomere maintenance Source: GO_Central
- thymus development Source: Ensembl
Keywordsi
Molecular function | DNA-binding, Kinase, Serine/threonine-protein kinase, Transferase |
Biological process | Biological rhythms, DNA damage, DNA recombination, DNA repair, Immunity, Innate immunity, Ribosome biogenesis |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | P78527 |
Reactomei | R-HSA-1834949, Cytosolic sensors of pathogen-associated DNA R-HSA-3270619, IRF3-mediated induction of type I IFN R-HSA-5693571, Nonhomologous End-Joining (NHEJ) R-HSA-8866654, E3 ubiquitin ligases ubiquitinate target proteins |
SIGNORi | P78527 |
Names & Taxonomyi
Protein namesi | Recommended name: DNA-dependent protein kinase catalytic subunit (EC:2.7.11.12 Publications)Short name: DNA-PK catalytic subunit Short name: DNA-PKcs Alternative name(s): DNPK1 p460 |
Gene namesi | Name:PRKDC Synonyms:HYRC, HYRC1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000253729.7 |
HGNCi | HGNC:9413, PRKDC |
MIMi | 600899, gene |
neXtProti | NX_P78527 |
Subcellular locationi
Cytosol
- cytosol Source: Reactome
Nucleus
- DNA-dependent protein kinase-DNA ligase 4 complex Source: MGI
- nuclear chromosome, telomeric region Source: BHF-UCL
- nucleolus Source: UniProtKB
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
- membrane Source: UniProtKB
- nonhomologous end joining complex Source: UniProtKB
- protein-containing complex Source: CAFA
- protein-DNA complex Source: CAFA
- small-subunit processome Source: UniProtKB
- transcription regulator complex Source: BHF-UCL
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Immunodeficiency 26 with or without neurologic abnormalities (IMD26)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_072569 | 3062 | L → R in IMD26; shows increased long palindromic (P)-nucleotide stretches in the immunoglobulin coding joints indicating a defect in hairpin opening and insufficient DCLRE1C activation. 1 PublicationCorresponds to variant dbSNP:rs587777685EnsemblClinVar. | 1 | |
Natural variantiVAR_072570 | 3574 | A → V in IMD26; shows impaired function in response to irradiation and a less severe defect in V(D)J end-joining suggesting that the missense mutation retained some functional capacity; consistent with a loss of function mutation. 1 PublicationCorresponds to variant dbSNP:rs587777686EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 1510 | L → P: Loss of interaction with C1D. 1 Publication | 1 | |
Mutagenesisi | 1516 – 1517 | EL → PD: Loss of interaction with C1D. 1 Publication | 2 | |
Mutagenesisi | 2609 | T → A: Leads to radiation sensitivity and impaired DSB joining. Gives rise to reduced phosphorylation; when associated with A-2612. 1 Publication | 1 | |
Mutagenesisi | 2612 | S → A: Reduced phosphorylation; when associated with A-2609. | 1 | |
Mutagenesisi | 2638 | T → A: Alleviates phosphorylation, leaves a fully active enzyme with compromised cellular resistance to ionizing radiation without affecting DNA end joining; when associated with A-2647. 1 Publication | 1 | |
Mutagenesisi | 2647 | T → A: Alleviates phosphorylation, leaves a fully active enzyme with compromised cellular resistance to ionizing radiation without affecting DNA end joining; when associated with A-2638. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, SCIDOrganism-specific databases
DisGeNETi | 5591 |
MalaCardsi | PRKDC |
MIMi | 615966, phenotype |
OpenTargetsi | ENSG00000253729 |
Orphaneti | 317425, Severe combined immunodeficiency due to DNA-PKcs deficiency |
PharmGKBi | PA33776 |
Miscellaneous databases
Pharosi | P78527, Tchem |
Chemistry databases
ChEMBLi | CHEMBL3142 |
DrugBanki | DB00201, Caffeine DB05210, SF1126 |
DrugCentrali | P78527 |
GuidetoPHARMACOLOGYi | 2800 |
Polymorphism and mutation databases
BioMutai | PRKDC |
DMDMi | 38258929 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000225598 | 1 – 4128 | DNA-dependent protein kinase catalytic subunitAdd BLAST | 4128 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 117 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 511 | PhosphoserineCombined sources | 1 | |
Modified residuei | 687 | PhosphoserineCombined sources | 1 | |
Modified residuei | 828 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 841 | PhosphoserineCombined sources | 1 | |
Modified residuei | 893 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1065 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1209 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 1970 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 2056 | Phosphoserine; by autocatalysis2 Publications | 1 | |
Modified residuei | 2259 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 2535 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 2609 | Phosphothreonine; by autocatalysis4 Publications | 1 | |
Modified residuei | 2612 | Phosphoserine; by autocatalysisCombined sources1 Publication | 1 | |
Modified residuei | 2638 | Phosphothreonine; by autocatalysisCombined sources1 Publication | 1 | |
Modified residuei | 2647 | Phosphothreonine; by autocatalysisCombined sources1 Publication | 1 | |
Modified residuei | 2789 | PhosphoserineCombined sources | 1 | |
Modified residuei | 3205 | PhosphoserineCombined sources | 1 | |
Modified residuei | 3241 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 3260 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 3621 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 3638 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 3642 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 3731 | PhosphoserineCombined sources | 1 | |
Modified residuei | 3821 | PhosphoserineCombined sources | 1 | |
Modified residuei | 4026 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 2020 – 2021 | Cleavage; by caspase-3Curated | 2 |
Keywords - PTMi
Acetylation, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | P78527 |
jPOSTi | P78527 |
MassIVEi | P78527 |
MaxQBi | P78527 |
PaxDbi | P78527 |
PeptideAtlasi | P78527 |
PRIDEi | P78527 |
ProteomicsDBi | 57634 [P78527-1] 57635 [P78527-2] |
2D gel databases
SWISS-2DPAGEi | P78527 |
PTM databases
CarbonylDBi | P78527 |
GlyConnecti | 1183, 1 N-Linked glycan (1 site) |
GlyGeni | P78527, 2 sites, 1 O-linked glycan (1 site) |
iPTMneti | P78527 |
MetOSitei | P78527 |
PhosphoSitePlusi | P78527 |
SwissPalmi | P78527 |
Expressioni
Gene expression databases
Bgeei | ENSG00000253729, Expressed in ventricular zone and 244 other tissues |
ExpressionAtlasi | P78527, baseline and differential |
Genevisiblei | P78527, HS |
Organism-specific databases
HPAi | ENSG00000253729, Low tissue specificity |
Interactioni
Subunit structurei
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 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 ubiquitination and degradation (PubMed:25852083).
Interacts with BRAT1. Part of the HDP-RNP complex composed of at least HEXIM1, PRKDC, XRCC5, XRCC6, paraspeckle proteins (SFPQ, NONO, PSPC1, RBM14, and MATR3) and NEAT1 RNA.
21 PublicationsBinary interactionsi
Hide detailsP78527
GO - Molecular functioni
- enzyme binding Source: Ensembl
- protein domain specific binding Source: CAFA
- transcription factor binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 111577, 384 interactors |
ComplexPortali | CPX-3403, DNA-dependent protein kinase complex |
CORUMi | P78527 |
DIPi | DIP-24186N |
ELMi | P78527 |
IntActi | P78527, 161 interactors |
MINTi | P78527 |
STRINGi | 9606.ENSP00000313420 |
Chemistry databases
BindingDBi | P78527 |
Miscellaneous databases
RNActi | P78527, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 288 – 323 | HEAT 1Add BLAST | 36 | |
Repeati | 1004 – 1040 | HEAT 2Add BLAST | 37 | |
Repeati | 1723 – 1756 | TPR 1Add BLAST | 34 | |
Domaini | 2906 – 3539 | FATPROSITE-ProRule annotationAdd BLAST | 634 | |
Repeati | 2920 – 2948 | TPR 2Add BLAST | 29 | |
Repeati | 2949 – 2982 | TPR 3Add BLAST | 34 | |
Domaini | 3747 – 4015 | PI3K/PI4KPROSITE-ProRule annotationAdd BLAST | 269 | |
Domaini | 4096 – 4128 | FATCPROSITE-ProRule annotationAdd BLAST | 33 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1503 – 1538 | Interaction with C1D1 PublicationAdd BLAST | 36 | |
Regioni | 1503 – 1538 | Leucine-zipperAdd BLAST | 36 | |
Regioni | 2436 – 3212 | KIP-bindingAdd BLAST | 777 |
Sequence similaritiesi
Keywords - Domaini
Repeat, TPR repeatPhylogenomic databases
eggNOGi | KOG0891, Eukaryota |
GeneTreei | ENSGT00940000155633 |
HOGENOMi | CLU_224534_0_0_1 |
InParanoidi | P78527 |
OMAi | MENTCTL |
OrthoDBi | 26975at2759 |
PhylomeDBi | P78527 |
TreeFami | TF324494 |
Family and domain databases
CDDi | cd05172, PIKKc_DNA-PK, 1 hit |
Gene3Di | 1.10.1070.11, 1 hit |
InterProi | View protein in InterPro IPR016024, ARM-type_fold IPR037706, DNA-PK_dom IPR003152, FATC_dom IPR011009, Kinase-like_dom_sf IPR012582, NUC194 IPR000403, PI3/4_kinase_cat_dom IPR036940, PI3/4_kinase_cat_sf IPR018936, PI3/4_kinase_CS IPR003151, PIK-rel_kinase_FAT IPR014009, PIK_FAT |
Pfami | View protein in Pfam PF02259, FAT, 1 hit PF02260, FATC, 1 hit PF08163, NUC194, 1 hit PF00454, PI3_PI4_kinase, 1 hit |
SMARTi | View protein in SMART SM01343, FATC, 1 hit SM01344, NUC194, 1 hit SM00146, PI3Kc, 1 hit |
SUPFAMi | SSF48371, SSF48371, 3 hits SSF56112, SSF56112, 1 hit |
PROSITEi | View protein in PROSITE PS51189, FAT, 1 hit PS51190, FATC, 1 hit PS00915, PI3_4_KINASE_1, 1 hit PS00916, PI3_4_KINASE_2, 1 hit PS50290, PI3_4_KINASE_3, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAGSGAGVRC SLLRLQETLS AADRCGAALA GHQLIRGLGQ ECVLSSSPAV
60 70 80 90 100
LALQTSLVFS RDFGLLVFVR KSLNSIEFRE CREEILKFLC IFLEKMGQKI
110 120 130 140 150
APYSVEIKNT CTSVYTKDRA AKCKIPALDL LIKLLQTFRS SRLMDEFKIG
160 170 180 190 200
ELFSKFYGEL ALKKKIPDTV LEKVYELLGL LGEVHPSEMI NNAENLFRAF
210 220 230 240 250
LGELKTQMTS AVREPKLPVL AGCLKGLSSL LCNFTKSMEE DPQTSREIFN
260 270 280 290 300
FVLKAIRPQI DLKRYAVPSA GLRLFALHAS QFSTCLLDNY VSLFEVLLKW
310 320 330 340 350
CAHTNVELKK AALSALESFL KQVSNMVAKN AEMHKNKLQY FMEQFYGIIR
360 370 380 390 400
NVDSNNKELS IAIRGYGLFA GPCKVINAKD VDFMYVELIQ RCKQMFLTQT
410 420 430 440 450
DTGDDRVYQM PSFLQSVASV LLYLDTVPEV YTPVLEHLVV MQIDSFPQYS
460 470 480 490 500
PKMQLVCCRA IVKVFLALAA KGPVLRNCIS TVVHQGLIRI CSKPVVLPKG
510 520 530 540 550
PESESEDHRA SGEVRTGKWK VPTYKDYVDL FRHLLSSDQM MDSILADEAF
560 570 580 590 600
FSVNSSSESL NHLLYDEFVK SVLKIVEKLD LTLEIQTVGE QENGDEAPGV
610 620 630 640 650
WMIPTSDPAA NLHPAKPKDF SAFINLVEFC REILPEKQAE FFEPWVYSFS
660 670 680 690 700
YELILQSTRL PLISGFYKLL SITVRNAKKI KYFEGVSPKS LKHSPEDPEK
710 720 730 740 750
YSCFALFVKF GKEVAVKMKQ YKDELLASCL TFLLSLPHNI IELDVRAYVP
760 770 780 790 800
ALQMAFKLGL SYTPLAEVGL NALEEWSIYI DRHVMQPYYK DILPCLDGYL
810 820 830 840 850
KTSALSDETK NNWEVSALSR AAQKGFNKVV LKHLKKTKNL SSNEAISLEE
860 870 880 890 900
IRIRVVQMLG SLGGQINKNL LTVTSSDEMM KSYVAWDREK RLSFAVPFRE
910 920 930 940 950
MKPVIFLDVF LPRVTELALT ASDRQTKVAA CELLHSMVMF MLGKATQMPE
960 970 980 990 1000
GGQGAPPMYQ LYKRTFPVLL RLACDVDQVT RQLYEPLVMQ LIHWFTNNKK
1010 1020 1030 1040 1050
FESQDTVALL EAILDGIVDP VDSTLRDFCG RCIREFLKWS IKQITPQQQE
1060 1070 1080 1090 1100
KSPVNTKSLF KRLYSLALHP NAFKRLGASL AFNNIYREFR EEESLVEQFV
1110 1120 1130 1140 1150
FEALVIYMES LALAHADEKS LGTIQQCCDA IDHLCRIIEK KHVSLNKAKK
1160 1170 1180 1190 1200
RRLPRGFPPS ASLCLLDLVK WLLAHCGRPQ TECRHKSIEL FYKFVPLLPG
1210 1220 1230 1240 1250
NRSPNLWLKD VLKEEGVSFL INTFEGGGCG QPSGILAQPT LLYLRGPFSL
1260 1270 1280 1290 1300
QATLCWLDLL LAALECYNTF IGERTVGALQ VLGTEAQSSL LKAVAFFLES
1310 1320 1330 1340 1350
IAMHDIIAAE KCFGTGAAGN RTSPQEGERY NYSKCTVVVR IMEFTTTLLN
1360 1370 1380 1390 1400
TSPEGWKLLK KDLCNTHLMR VLVQTLCEPA SIGFNIGDVQ VMAHLPDVCV
1410 1420 1430 1440 1450
NLMKALKMSP YKDILETHLR EKITAQSIEE LCAVNLYGPD AQVDRSRLAA
1460 1470 1480 1490 1500
VVSACKQLHR AGLLHNILPS QSTDLHHSVG TELLSLVYKG IAPGDERQCL
1510 1520 1530 1540 1550
PSLDLSCKQL ASGLLELAFA FGGLCERLVS LLLNPAVLST ASLGSSQGSV
1560 1570 1580 1590 1600
IHFSHGEYFY SLFSETINTE LLKNLDLAVL ELMQSSVDNT KMVSAVLNGM
1610 1620 1630 1640 1650
LDQSFRERAN QKHQGLKLAT TILQHWKKCD SWWAKDSPLE TKMAVLALLA
1660 1670 1680 1690 1700
KILQIDSSVS FNTSHGSFPE VFTTYISLLA DTKLDLHLKG QAVTLLPFFT
1710 1720 1730 1740 1750
SLTGGSLEEL RRVLEQLIVA HFPMQSREFP PGTPRFNNYV DCMKKFLDAL
1760 1770 1780 1790 1800
ELSQSPMLLE LMTEVLCREQ QHVMEELFQS SFRRIARRGS CVTQVGLLES
1810 1820 1830 1840 1850
VYEMFRKDDP RLSFTRQSFV DRSLLTLLWH CSLDALREFF STIVVDAIDV
1860 1870 1880 1890 1900
LKSRFTKLNE STFDTQITKK MGYYKILDVM YSRLPKDDVH AKESKINQVF
1910 1920 1930 1940 1950
HGSCITEGNE LTKTLIKLCY DAFTENMAGE NQLLERRRLY HCAAYNCAIS
1960 1970 1980 1990 2000
VICCVFNELK FYQGFLFSEK PEKNLLIFEN LIDLKRRYNF PVEVEVPMER
2010 2020 2030 2040 2050
KKKYIEIRKE AREAANGDSD GPSYMSSLSY LADSTLSEEM SQFDFSTGVQ
2060 2070 2080 2090 2100
SYSYSSQDPR PATGRFRRRE QRDPTVHDDV LELEMDELNR HECMAPLTAL
2110 2120 2130 2140 2150
VKHMHRSLGP PQGEEDSVPR DLPSWMKFLH GKLGNPIVPL NIRLFLAKLV
2160 2170 2180 2190 2200
INTEEVFRPY AKHWLSPLLQ LAASENNGGE GIHYMVVEIV ATILSWTGLA
2210 2220 2230 2240 2250
TPTGVPKDEV LANRLLNFLM KHVFHPKRAV FRHNLEIIKT LVECWKDCLS
2260 2270 2280 2290 2300
IPYRLIFEKF SGKDPNSKDN SVGIQLLGIV MANDLPPYDP QCGIQSSEYF
2310 2320 2330 2340 2350
QALVNNMSFV RYKEVYAAAA EVLGLILRYV MERKNILEES LCELVAKQLK
2360 2370 2380 2390 2400
QHQNTMEDKF IVCLNKVTKS FPPLADRFMN AVFFLLPKFH GVLKTLCLEV
2410 2420 2430 2440 2450
VLCRVEGMTE LYFQLKSKDF VQVMRHRDDE RQKVCLDIIY KMMPKLKPVE
2460 2470 2480 2490 2500
LRELLNPVVE FVSHPSTTCR EQMYNILMWI HDNYRDPESE TDNDSQEIFK
2510 2520 2530 2540 2550
LAKDVLIQGL IDENPGLQLI IRNFWSHETR LPSNTLDRLL ALNSLYSPKI
2560 2570 2580 2590 2600
EVHFLSLATN FLLEMTSMSP DYPNPMFEHP LSECEFQEYT IDSDWRFRST
2610 2620 2630 2640 2650
VLTPMFVETQ ASQGTLQTRT QEGSLSARWP VAGQIRATQQ QHDFTLTQTA
2660 2670 2680 2690 2700
DGRSSFDWLT GSSTDPLVDH TSPSSDSLLF AHKRSERLQR APLKSVGPDF
2710 2720 2730 2740 2750
GKKRLGLPGD EVDNKVKGAA GRTDLLRLRR RFMRDQEKLS LMYARKGVAE
2760 2770 2780 2790 2800
QKREKEIKSE LKMKQDAQVV LYRSYRHGDL PDIQIKHSSL ITPLQAVAQR
2810 2820 2830 2840 2850
DPIIAKQLFS SLFSGILKEM DKFKTLSEKN NITQKLLQDF NRFLNTTFSF
2860 2870 2880 2890 2900
FPPFVSCIQD ISCQHAALLS LDPAAVSAGC LASLQQPVGI RLLEEALLRL
2910 2920 2930 2940 2950
LPAELPAKRV RGKARLPPDV LRWVELAKLY RSIGEYDVLR GIFTSEIGTK
2960 2970 2980 2990 3000
QITQSALLAE ARSDYSEAAK QYDEALNKQD WVDGEPTEAE KDFWELASLD
3010 3020 3030 3040 3050
CYNHLAEWKS LEYCSTASID SENPPDLNKI WSEPFYQETY LPYMIRSKLK
3060 3070 3080 3090 3100
LLLQGEADQS LLTFIDKAMH GELQKAILEL HYSQELSLLY LLQDDVDRAK
3110 3120 3130 3140 3150
YYIQNGIQSF MQNYSSIDVL LHQSRLTKLQ SVQALTEIQE FISFISKQGN
3160 3170 3180 3190 3200
LSSQVPLKRL LNTWTNRYPD AKMDPMNIWD DIITNRCFFL SKIEEKLTPL
3210 3220 3230 3240 3250
PEDNSMNVDQ DGDPSDRMEV QEQEEDISSL IRSCKFSMKM KMIDSARKQN
3260 3270 3280 3290 3300
NFSLAMKLLK ELHKESKTRD DWLVSWVQSY CRLSHCRSRS QGCSEQVLTV
3310 3320 3330 3340 3350
LKTVSLLDEN NVSSYLSKNI LAFRDQNILL GTTYRIIANA LSSEPACLAE
3360 3370 3380 3390 3400
IEEDKARRIL ELSGSSSEDS EKVIAGLYQR AFQHLSEAVQ AAEEEAQPPS
3410 3420 3430 3440 3450
WSCGPAAGVI DAYMTLADFC DQQLRKEEEN ASVIDSAELQ AYPALVVEKM
3460 3470 3480 3490 3500
LKALKLNSNE ARLKFPRLLQ IIERYPEETL SLMTKEISSV PCWQFISWIS
3510 3520 3530 3540 3550
HMVALLDKDQ AVAVQHSVEE ITDNYPQAIV YPFIISSESY SFKDTSTGHK
3560 3570 3580 3590 3600
NKEFVARIKS KLDQGGVIQD FINALDQLSN PELLFKDWSN DVRAELAKTP
3610 3620 3630 3640 3650
VNKKNIEKMY ERMYAALGDP KAPGLGAFRR KFIQTFGKEF DKHFGKGGSK
3660 3670 3680 3690 3700
LLRMKLSDFN DITNMLLLKM NKDSKPPGNL KECSPWMSDF KVEFLRNELE
3710 3720 3730 3740 3750
IPGQYDGRGK PLPEYHVRIA GFDERVTVMA SLRRPKRIII RGHDEREHPF
3760 3770 3780 3790 3800
LVKGGEDLRQ DQRVEQLFQV MNGILAQDSA CSQRALQLRT YSVVPMTSRL
3810 3820 3830 3840 3850
GLIEWLENTV TLKDLLLNTM SQEEKAAYLS DPRAPPCEYK DWLTKMSGKH
3860 3870 3880 3890 3900
DVGAYMLMYK GANRTETVTS FRKRESKVPA DLLKRAFVRM STSPEAFLAL
3910 3920 3930 3940 3950
RSHFASSHAL ICISHWILGI GDRHLNNFMV AMETGGVIGI DFGHAFGSAT
3960 3970 3980 3990 4000
QFLPVPELMP FRLTRQFINL MLPMKETGLM YSIMVHALRA FRSDPGLLTN
4010 4020 4030 4040 4050
TMDVFVKEPS FDWKNFEQKM LKKGGSWIQE INVAEKNWYP RQKICYAKRK
4060 4070 4080 4090 4100
LAGANPAVIT CDELLLGHEK APAFRDYVAV ARGSKDHNIR AQEPESGLSE
4110 4120
ETQVKCLMDQ ATDPNILGRT WEGWEPWM
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0YG84 | H0YG84_HUMAN | DNA-dependent protein kinase cataly... | PRKDC | 90 | Annotation score: | ||
F5GX40 | F5GX40_HUMAN | DNA-dependent protein kinase cataly... | PRKDC | 70 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 405 | D → Y in AAC50210 (Ref. 2) Curated | 1 | |
Sequence conflicti | 1008 | A → S in AAC50210 (Ref. 2) Curated | 1 | |
Sequence conflicti | 3660 | N → T in AAA79184 (PubMed:7594449).Curated | 1 | |
Sequence conflicti | 3817 | L → W in AAA79184 (PubMed:7594449).Curated | 1 | |
Sequence conflicti | 3862 | A → P in AAA79184 (PubMed:7594449).Curated | 1 | |
Sequence conflicti | 4031 | I → V in AAK40350 (Ref. 9) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_019179 | 6 | A → S2 PublicationsCorresponds to variant dbSNP:rs8177999EnsemblClinVar. | 1 | |
Natural variantiVAR_041602 | 263 | K → N in a lung adenocarcinoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs758032015Ensembl. | 1 | |
Natural variantiVAR_019180 | 333 | M → I2 PublicationsCorresponds to variant dbSNP:rs8178017EnsemblClinVar. | 1 | |
Natural variantiVAR_041603 | 420 | V → I1 PublicationCorresponds to variant dbSNP:rs55925466Ensembl. | 1 | |
Natural variantiVAR_041604 | 500 | G → S in a metastatic melanoma sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_019181 | 605 | T → S2 PublicationsCorresponds to variant dbSNP:rs8178033EnsemblClinVar. | 1 | |
Natural variantiVAR_041605 | 649 | F → L1 PublicationCorresponds to variant dbSNP:rs55811715Ensembl. | 1 | |
Natural variantiVAR_019182 | 680 | I → M1 PublicationCorresponds to variant dbSNP:rs8178040EnsemblClinVar. | 1 | |
Natural variantiVAR_019183 | 695 | P → S2 PublicationsCorresponds to variant dbSNP:rs8178046EnsemblClinVar. | 1 | |
Natural variantiVAR_019184 | 1071 | N → S1 PublicationCorresponds to variant dbSNP:rs8178070EnsemblClinVar. | 1 | |
Natural variantiVAR_041606 | 1136 | R → H in a colorectal adenocarcinoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs781401034Ensembl. | 1 | |
Natural variantiVAR_041607 | 1190 | L → V1 PublicationCorresponds to variant dbSNP:rs34598508Ensembl. | 1 | |
Natural variantiVAR_041608 | 1237 | A → T1 PublicationCorresponds to variant dbSNP:rs191531119EnsemblClinVar. | 1 | |
Natural variantiVAR_041609 | 1279 | L → F1 Publication | 1 | |
Natural variantiVAR_019185 | 1314 | G → V1 PublicationCorresponds to variant dbSNP:rs8178090EnsemblClinVar. | 1 | |
Natural variantiVAR_041610 | 1447 | R → M in a lung squamous cell carcinoma sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_019186 | 1588 | D → V1 PublicationCorresponds to variant dbSNP:rs8178104Ensembl. | 1 | |
Natural variantiVAR_019187 | 1603 | Q → H1 PublicationCorresponds to variant dbSNP:rs8178106EnsemblClinVar. | 1 | |
Natural variantiVAR_041611 | 1619 | A → G1 PublicationCorresponds to variant dbSNP:rs56182356EnsemblClinVar. | 1 | |
Natural variantiVAR_041612 | 1680 | A → V in a metastatic melanoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs55735910Ensembl. | 1 | |
Natural variantiVAR_041613 | 2023 | S → P1 PublicationCorresponds to variant dbSNP:rs56042895EnsemblClinVar. | 1 | |
Natural variantiVAR_019188 | 2095 | A → V1 PublicationCorresponds to variant dbSNP:rs8178147Ensembl. | 1 | |
Natural variantiVAR_041614 | 2598 | R → Q1 PublicationCorresponds to variant dbSNP:rs55923149Ensembl. | 1 | |
Natural variantiVAR_019189 | 2702 | K → E1 PublicationCorresponds to variant dbSNP:rs8178178Ensembl. | 1 | |
Natural variantiVAR_041615 | 2810 | S → N in a metastatic melanoma sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_019190 | 2899 | R → C2 PublicationsCorresponds to variant dbSNP:rs4278157EnsemblClinVar. | 1 | |
Natural variantiVAR_041616 | 2941 | G → A in a lung neuroendocrine carcinoma sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_072569 | 3062 | L → R in IMD26; shows increased long palindromic (P)-nucleotide stretches in the immunoglobulin coding joints indicating a defect in hairpin opening and insufficient DCLRE1C activation. 1 PublicationCorresponds to variant dbSNP:rs587777685EnsemblClinVar. | 1 | |
Natural variantiVAR_041617 | 3085 | E → D1 PublicationCorresponds to variant dbSNP:rs56135402Ensembl. | 1 | |
Natural variantiVAR_019191 | 3149 | G → D2 PublicationsCorresponds to variant dbSNP:rs8178208EnsemblClinVar. | 1 | |
Natural variantiVAR_041618 | 3198 | T → S1 PublicationCorresponds to variant dbSNP:rs55793951EnsemblClinVar. | 1 | |
Natural variantiVAR_019192 | 3201 | P → S2 PublicationsCorresponds to variant dbSNP:rs8178216EnsemblClinVar. | 1 | |
Natural variantiVAR_019193 | 3404 | G → E2 PublicationsCorresponds to variant dbSNP:rs8178225EnsemblClinVar. | 1 | |
Natural variantiVAR_019194 | 3434 | I → T2 PublicationsCorresponds to variant dbSNP:rs7830743EnsemblClinVar. | 1 | |
Natural variantiVAR_019195 | 3459 | N → S1 PublicationCorresponds to variant dbSNP:rs8178228EnsemblClinVar. | 1 | |
Natural variantiVAR_019196 | 3562 | L → M2 PublicationsCorresponds to variant dbSNP:rs8178232EnsemblClinVar. | 1 | |
Natural variantiVAR_072570 | 3574 | A → V in IMD26; shows impaired function in response to irradiation and a less severe defect in V(D)J end-joining suggesting that the missense mutation retained some functional capacity; consistent with a loss of function mutation. 1 PublicationCorresponds to variant dbSNP:rs587777686EnsemblClinVar. | 1 | |
Natural variantiVAR_041619 | 3584 | L → F1 PublicationCorresponds to variant dbSNP:rs55866966EnsemblClinVar. | 1 | |
Natural variantiVAR_050534 | 3702 | P → L. Corresponds to variant dbSNP:rs8178236Ensembl. | 1 | |
Natural variantiVAR_041620 | 3800 | L → I1 PublicationCorresponds to variant dbSNP:rs56216442Ensembl. | 1 | |
Natural variantiVAR_019197 | 3836 | P → L2 PublicationsCorresponds to variant dbSNP:rs8178245EnsemblClinVar. | 1 | |
Natural variantiVAR_019198 | 3932 | M → V1 PublicationCorresponds to variant dbSNP:rs8178248Ensembl. | 1 | |
Natural variantiVAR_041621 | 3936 | G → S1 PublicationCorresponds to variant dbSNP:rs55670423EnsemblClinVar. | 1 | |
Natural variantiVAR_041622 | 3937 | V → M1 PublicationCorresponds to variant dbSNP:rs56090750Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_004708 | 3799 – 3829 | Missing in isoform 2. 1 PublicationAdd BLAST | 31 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U47077 mRNA Translation: AAB39925.5 U34994 mRNA Translation: AAC50210.3 AY316117 Genomic DNA Translation: AAP69525.1 U63630 Genomic DNA Translation: AAC52019.2 U90415 Genomic DNA Translation: AAB51722.1 L27425 Genomic DNA Translation: AAA79244.1 AB052953 Genomic DNA Translation: BAB79635.1 U35835 mRNA Translation: AAA79184.1 AY030284 Genomic DNA Translation: AAK40350.1 AB208860 mRNA Translation: BAD92097.1 |
CCDSi | CCDS75734.1 [P78527-2] CCDS75735.1 [P78527-1] |
PIRi | A57099 G02083 |
RefSeqi | NP_001075109.1, NM_001081640.1 [P78527-2] NP_008835.5, NM_006904.6 [P78527-1] |
Genome annotation databases
Ensembli | ENST00000314191; ENSP00000313420; ENSG00000253729 [P78527-1] ENST00000338368; ENSP00000345182; ENSG00000253729 [P78527-2] |
GeneIDi | 5591 |
KEGGi | hsa:5591 |
UCSCi | uc033bkh.1, human [P78527-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
NIEHS-SNPs |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U47077 mRNA Translation: AAB39925.5 U34994 mRNA Translation: AAC50210.3 AY316117 Genomic DNA Translation: AAP69525.1 U63630 Genomic DNA Translation: AAC52019.2 U90415 Genomic DNA Translation: AAB51722.1 L27425 Genomic DNA Translation: AAA79244.1 AB052953 Genomic DNA Translation: BAB79635.1 U35835 mRNA Translation: AAA79184.1 AY030284 Genomic DNA Translation: AAK40350.1 AB208860 mRNA Translation: BAD92097.1 |
CCDSi | CCDS75734.1 [P78527-2] CCDS75735.1 [P78527-1] |
PIRi | A57099 G02083 |
RefSeqi | NP_001075109.1, NM_001081640.1 [P78527-2] NP_008835.5, NM_006904.6 [P78527-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5LUQ | X-ray | 4.30 | A/B | 2-2575 | [»] | |
A/B | 2774-4127 | [»] | ||||
5W1R | electron microscopy | 4.40 | A | 1-4128 | [»] | |
5Y3R | electron microscopy | 6.60 | C | 10-4128 | [»] | |
SASBDBi | P78527 | |||||
SMRi | P78527 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 111577, 384 interactors |
ComplexPortali | CPX-3403, DNA-dependent protein kinase complex |
CORUMi | P78527 |
DIPi | DIP-24186N |
ELMi | P78527 |
IntActi | P78527, 161 interactors |
MINTi | P78527 |
STRINGi | 9606.ENSP00000313420 |
Chemistry databases
BindingDBi | P78527 |
ChEMBLi | CHEMBL3142 |
DrugBanki | DB00201, Caffeine DB05210, SF1126 |
DrugCentrali | P78527 |
GuidetoPHARMACOLOGYi | 2800 |
PTM databases
CarbonylDBi | P78527 |
GlyConnecti | 1183, 1 N-Linked glycan (1 site) |
GlyGeni | P78527, 2 sites, 1 O-linked glycan (1 site) |
iPTMneti | P78527 |
MetOSitei | P78527 |
PhosphoSitePlusi | P78527 |
SwissPalmi | P78527 |
Polymorphism and mutation databases
BioMutai | PRKDC |
DMDMi | 38258929 |
2D gel databases
SWISS-2DPAGEi | P78527 |
Proteomic databases
EPDi | P78527 |
jPOSTi | P78527 |
MassIVEi | P78527 |
MaxQBi | P78527 |
PaxDbi | P78527 |
PeptideAtlasi | P78527 |
PRIDEi | P78527 |
ProteomicsDBi | 57634 [P78527-1] 57635 [P78527-2] |
Protocols and materials databases
Antibodypediai | 52433, 1510 antibodies |
Genome annotation databases
Ensembli | ENST00000314191; ENSP00000313420; ENSG00000253729 [P78527-1] ENST00000338368; ENSP00000345182; ENSG00000253729 [P78527-2] |
GeneIDi | 5591 |
KEGGi | hsa:5591 |
UCSCi | uc033bkh.1, human [P78527-1] |
Organism-specific databases
CTDi | 5591 |
DisGeNETi | 5591 |
EuPathDBi | HostDB:ENSG00000253729.7 |
GeneCardsi | PRKDC |
HGNCi | HGNC:9413, PRKDC |
HPAi | ENSG00000253729, Low tissue specificity |
MalaCardsi | PRKDC |
MIMi | 600899, gene 615966, phenotype |
neXtProti | NX_P78527 |
OpenTargetsi | ENSG00000253729 |
Orphaneti | 317425, Severe combined immunodeficiency due to DNA-PKcs deficiency |
PharmGKBi | PA33776 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0891, Eukaryota |
GeneTreei | ENSGT00940000155633 |
HOGENOMi | CLU_224534_0_0_1 |
InParanoidi | P78527 |
OMAi | MENTCTL |
OrthoDBi | 26975at2759 |
PhylomeDBi | P78527 |
TreeFami | TF324494 |
Enzyme and pathway databases
PathwayCommonsi | P78527 |
Reactomei | R-HSA-1834949, Cytosolic sensors of pathogen-associated DNA R-HSA-3270619, IRF3-mediated induction of type I IFN R-HSA-5693571, Nonhomologous End-Joining (NHEJ) R-HSA-8866654, E3 ubiquitin ligases ubiquitinate target proteins |
SIGNORi | P78527 |
Miscellaneous databases
BioGRID-ORCSi | 5591, 39 hits in 139 CRISPR screens |
ChiTaRSi | PRKDC, human |
GeneWikii | DNA-PKcs |
GenomeRNAii | 5591 |
Pharosi | P78527, Tchem |
PROi | PR:P78527 |
RNActi | P78527, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000253729, Expressed in ventricular zone and 244 other tissues |
ExpressionAtlasi | P78527, baseline and differential |
Genevisiblei | P78527, HS |
Family and domain databases
CDDi | cd05172, PIKKc_DNA-PK, 1 hit |
Gene3Di | 1.10.1070.11, 1 hit |
InterProi | View protein in InterPro IPR016024, ARM-type_fold IPR037706, DNA-PK_dom IPR003152, FATC_dom IPR011009, Kinase-like_dom_sf IPR012582, NUC194 IPR000403, PI3/4_kinase_cat_dom IPR036940, PI3/4_kinase_cat_sf IPR018936, PI3/4_kinase_CS IPR003151, PIK-rel_kinase_FAT IPR014009, PIK_FAT |
Pfami | View protein in Pfam PF02259, FAT, 1 hit PF02260, FATC, 1 hit PF08163, NUC194, 1 hit PF00454, PI3_PI4_kinase, 1 hit |
SMARTi | View protein in SMART SM01343, FATC, 1 hit SM01344, NUC194, 1 hit SM00146, PI3Kc, 1 hit |
SUPFAMi | SSF48371, SSF48371, 3 hits SSF56112, SSF56112, 1 hit |
PROSITEi | View protein in PROSITE PS51189, FAT, 1 hit PS51190, FATC, 1 hit PS00915, PI3_4_KINASE_1, 1 hit PS00916, PI3_4_KINASE_2, 1 hit PS50290, PI3_4_KINASE_3, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PRKDC_HUMAN | |
Accessioni | P78527Primary (citable) accession number: P78527 Secondary accession number(s): P78528 Q9UME3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 27, 2001 |
Last sequence update: | October 31, 2003 | |
Last modified: | December 2, 2020 | |
This is version 222 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human and mouse protein kinases
Human and mouse protein kinases: classification and index