• Gene id: 5591

Gene Summary

• Gene Symbol: PRKDC   Gene   UCSC   Ensembl
• Aliases: DNA-PKC, DNA-PKcs, DNAPK, DNAPKc, DNPK1, HYRC, HYRC1, IMD26, XRCC7, p350
• Gene name: protein kinase, DNA-activated, catalytic subunit
• Alternate names: DNA-dependent protein kinase catalytic subunit, DNA-PK catalytic subunit, hyper-radiosensitivity of murine scid mutation, complementing 1, p460, protein kinase, DNA-activated, catalytic polypeptide,
• Gene location: 8q11.21 (47960135: 47773110)     Exons: 86     NC_000008.11
• Gene summary(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.[pr
• OMIM: 600899

SNPs

rs4471514

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.95273561C>A
NC_000012.12   g.95273561C>T
NC_000012.11   g.95667337C>A
NC_000012.11   g.95667337C>T
NG_028987.2   g.60816C>A
NG_028987.2   g.60816C>T
NG_028987.1   g.60816C>A
NG_028987.1   g.60816C>T|SEQ=[C/A/T]|GENE=VEZT

Protein Summary

• Protein general information: P78527  
  • Name: DNA dependent protein kinase catalytic subunit (DNA PK catalytic subunit) (DNA PKcs) (EC 2.7.11.1) (DNPK1) (p460)
  • Length: 4128  
  • Mass: 469089
• Sequence:

  MAGSGAGVRCSLLRLQETLSAADRCGAALAGHQLIRGLGQECVLSSSPAVLALQTSLVFSRDFGLLVFVRKSLNS
  IEFRECREEILKFLCIFLEKMGQKIAPYSVEIKNTCTSVYTKDRAAKCKIPALDLLIKLLQTFRSSRLMDEFKIG
  ELFSKFYGELALKKKIPDTVLEKVYELLGLLGEVHPSEMINNAENLFRAFLGELKTQMTSAVREPKLPVLAGCLK
  GLSSLLCNFTKSMEEDPQTSREIFNFVLKAIRPQIDLKRYAVPSAGLRLFALHASQFSTCLLDNYVSLFEVLLKW
  CAHTNVELKKAALSALESFLKQVSNMVAKNAEMHKNKLQYFMEQFYGIIRNVDSNNKELSIAIRGYGLFAGPCKV
  INAKDVDFMYVELIQRCKQMFLTQTDTGDDRVYQMPSFLQSVASVLLYLDTVPEVYTPVLEHLVVMQIDSFPQYS
  PKMQLVCCRAIVKVFLALAAKGPVLRNCISTVVHQGLIRICSKPVVLPKGPESESEDHRASGEVRTGKWKVPTYK
  DYVDLFRHLLSSDQMMDSILADEAFFSVNSSSESLNHLLYDEFVKSVLKIVEKLDLTLEIQTVGEQENGDEAPGV
  WMIPTSDPAANLHPAKPKDFSAFINLVEFCREILPEKQAEFFEPWVYSFSYELILQSTRLPLISGFYKLLSITVR
  NAKKIKYFEGVSPKSLKHSPEDPEKYSCFALFVKFGKEVAVKMKQYKDELLASCLTFLLSLPHNIIELDVRAYVP
  ALQMAFKLGLSYTPLAEVGLNALEEWSIYIDRHVMQPYYKDILPCLDGYLKTSALSDETKNNWEVSALSRAAQKG
  FNKVVLKHLKKTKNLSSNEAISLEEIRIRVVQMLGSLGGQINKNLLTVTSSDEMMKSYVAWDREKRLSFAVPFRE
  MKPVIFLDVFLPRVTELALTASDRQTKVAACELLHSMVMFMLGKATQMPEGGQGAPPMYQLYKRTFPVLLRLACD
  VDQVTRQLYEPLVMQLIHWFTNNKKFESQDTVALLEAILDGIVDPVDSTLRDFCGRCIREFLKWSIKQITPQQQE
  KSPVNTKSLFKRLYSLALHPNAFKRLGASLAFNNIYREFREEESLVEQFVFEALVIYMESLALAHADEKSLGTIQ
  QCCDAIDHLCRIIEKKHVSLNKAKKRRLPRGFPPSASLCLLDLVKWLLAHCGRPQTECRHKSIELFYKFVPLLPG
  NRSPNLWLKDVLKEEGVSFLINTFEGGGCGQPSGILAQPTLLYLRGPFSLQATLCWLDLLLAALECYNTFIGERT
  VGALQVLGTEAQSSLLKAVAFFLESIAMHDIIAAEKCFGTGAAGNRTSPQEGERYNYSKCTVVVRIMEFTTTLLN
  TSPEGWKLLKKDLCNTHLMRVLVQTLCEPASIGFNIGDVQVMAHLPDVCVNLMKALKMSPYKDILETHLREKITA
  QSIEELCAVNLYGPDAQVDRSRLAAVVSACKQLHRAGLLHNILPSQSTDLHHSVGTELLSLVYKGIAPGDERQCL
  PSLDLSCKQLASGLLELAFAFGGLCERLVSLLLNPAVLSTASLGSSQGSVIHFSHGEYFYSLFSETINTELLKNL
  DLAVLELMQSSVDNTKMVSAVLNGMLDQSFRERANQKHQGLKLATTILQHWKKCDSWWAKDSPLETKMAVLALLA
  KILQIDSSVSFNTSHGSFPEVFTTYISLLADTKLDLHLKGQAVTLLPFFTSLTGGSLEELRRVLEQLIVAHFPMQ
  SREFPPGTPRFNNYVDCMKKFLDALELSQSPMLLELMTEVLCREQQHVMEELFQSSFRRIARRGSCVTQVGLLES
  VYEMFRKDDPRLSFTRQSFVDRSLLTLLWHCSLDALREFFSTIVVDAIDVLKSRFTKLNESTFDTQITKKMGYYK
  ILDVMYSRLPKDDVHAKESKINQVFHGSCITEGNELTKTLIKLCYDAFTENMAGENQLLERRRLYHCAAYNCAIS
  VICCVFNELKFYQGFLFSEKPEKNLLIFENLIDLKRRYNFPVEVEVPMERKKKYIEIRKEAREAANGDSDGPSYM
  SSLSYLADSTLSEEMSQFDFSTGVQSYSYSSQDPRPATGRFRRREQRDPTVHDDVLELEMDELNRHECMAPLTAL
  VKHMHRSLGPPQGEEDSVPRDLPSWMKFLHGKLGNPIVPLNIRLFLAKLVINTEEVFRPYAKHWLSPLLQLAASE
  NNGGEGIHYMVVEIVATILSWTGLATPTGVPKDEVLANRLLNFLMKHVFHPKRAVFRHNLEIIKTLVECWKDCLS
  IPYRLIFEKFSGKDPNSKDNSVGIQLLGIVMANDLPPYDPQCGIQSSEYFQALVNNMSFVRYKEVYAAAAEVLGL
  ILRYVMERKNILEESLCELVAKQLKQHQNTMEDKFIVCLNKVTKSFPPLADRFMNAVFFLLPKFHGVLKTLCLEV
  VLCRVEGMTELYFQLKSKDFVQVMRHRDDERQKVCLDIIYKMMPKLKPVELRELLNPVVEFVSHPSTTCREQMYN
  ILMWIHDNYRDPESETDNDSQEIFKLAKDVLIQGLIDENPGLQLIIRNFWSHETRLPSNTLDRLLALNSLYSPKI
  EVHFLSLATNFLLEMTSMSPDYPNPMFEHPLSECEFQEYTIDSDWRFRSTVLTPMFVETQASQGTLQTRTQEGSL
  SARWPVAGQIRATQQQHDFTLTQTADGRSSFDWLTGSSTDPLVDHTSPSSDSLLFAHKRSERLQRAPLKSVGPDF
  GKKRLGLPGDEVDNKVKGAAGRTDLLRLRRRFMRDQEKLSLMYARKGVAEQKREKEIKSELKMKQDAQVVLYRSY
  RHGDLPDIQIKHSSLITPLQAVAQRDPIIAKQLFSSLFSGILKEMDKFKTLSEKNNITQKLLQDFNRFLNTTFSF
  FPPFVSCIQDISCQHAALLSLDPAAVSAGCLASLQQPVGIRLLEEALLRLLPAELPAKRVRGKARLPPDVLRWVE
  LAKLYRSIGEYDVLRGIFTSEIGTKQITQSALLAEARSDYSEAAKQYDEALNKQDWVDGEPTEAEKDFWELASLD
  CYNHLAEWKSLEYCSTASIDSENPPDLNKIWSEPFYQETYLPYMIRSKLKLLLQGEADQSLLTFIDKAMHGELQK
  AILELHYSQELSLLYLLQDDVDRAKYYIQNGIQSFMQNYSSIDVLLHQSRLTKLQSVQALTEIQEFISFISKQGN
  LSSQVPLKRLLNTWTNRYPDAKMDPMNIWDDIITNRCFFLSKIEEKLTPLPEDNSMNVDQDGDPSDRMEVQEQEE
  DISSLIRSCKFSMKMKMIDSARKQNNFSLAMKLLKELHKESKTRDDWLVSWVQSYCRLSHCRSRSQGCSEQVLTV
  LKTVSLLDENNVSSYLSKNILAFRDQNILLGTTYRIIANALSSEPACLAEIEEDKARRILELSGSSSEDSEKVIA
  GLYQRAFQHLSEAVQAAEEEAQPPSWSCGPAAGVIDAYMTLADFCDQQLRKEEENASVIDSAELQAYPALVVEKM
  LKALKLNSNEARLKFPRLLQIIERYPEETLSLMTKEISSVPCWQFISWISHMVALLDKDQAVAVQHSVEEITDNY
  PQAIVYPFIISSESYSFKDTSTGHKNKEFVARIKSKLDQGGVIQDFINALDQLSNPELLFKDWSNDVRAELAKTP
  VNKKNIEKMYERMYAALGDPKAPGLGAFRRKFIQTFGKEFDKHFGKGGSKLLRMKLSDFNDITNMLLLKMNKDSK
  PPGNLKECSPWMSDFKVEFLRNELEIPGQYDGRGKPLPEYHVRIAGFDERVTVMASLRRPKRIIIRGHDEREHPF
  LVKGGEDLRQDQRVEQLFQVMNGILAQDSACSQRALQLRTYSVVPMTSRLGLIEWLENTVTLKDLLLNTMSQEEK
  AAYLSDPRAPPCEYKDWLTKMSGKHDVGAYMLMYKGANRTETVTSFRKRESKVPADLLKRAFVRMSTSPEAFLAL
  RSHFASSHALICISHWILGIGDRHLNNFMVAMETGGVIGIDFGHAFGSATQFLPVPELMPFRLTRQFINLMLPMK
  ETGLMYSIMVHALRAFRSDPGLLTNTMDVFVKEPSFDWKNFEQKMLKKGGSWIQEINVAEKNWYPRQKICYAKRK
  LAGANPAVITCDELLLGHEKAPAFRDYVAVARGSKDHNIRAQEPESGLSEETQVKCLMDQATDPNILGRTWEGWE
  PWM

• Structural information:
  • Protein Domains: (2906..353-)
    (/note="FAT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00534-)
    (3747..401-)
    (/note="PI3K/PI4K-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00269-)
    (4096..412-)
    (/note="FATC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU0053-)
  • Interpro: IPR016024  IPR037706  IPR003152  IPR011009  IPR012582   IPR000403  IPR036940  IPR018936  IPR003151  IPR014009  
  • Prosite: PS51189 PS51190 PS00915 PS00916 PS50290
  • CDD: cd05172
  • PDB: 5LUQ 5W1R 5Y3R
  • PDBsum: 5LUQ 5W1R 5Y3R
  • DIP: 24186
  • STRING: ENSP00000313420
• Other Databases: GeneCards:  PRKDC  Malacards:  PRKDC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0004672	protein kinase activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0033152	immunoglobulin V(D)J recombination	IBA	biological process
GO:0000723	telomere maintenance	IBA	biological process
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IBA	biological process
GO:0006974	cellular response to DNA damage stimulus	IBA	biological process
GO:0006302	double-strand break repair	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0070419	nonhomologous end joining complex	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0070419	nonhomologous end joining complex	IDA	cellular component
GO:2001034	positive regulation of double-strand break repair via nonhomologous end joining	IDA	biological process
GO:0002218	activation of innate immune response	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0006468	protein phosphorylation	IDA	biological process
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0072431	signal transduction involved in mitotic G1 DNA damage checkpoint	IMP	biological process
GO:0001933	negative regulation of protein phosphorylation	ISS	biological process
GO:0048660	regulation of smooth muscle cell proliferation	IMP	biological process
GO:0042752	regulation of circadian rhythm	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004677	DNA-dependent protein kinase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0006303	double-strand break repair via nonhomologous end joining	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016301	kinase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0048511	rhythmic process	IEA	biological process
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0006310	DNA recombination	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0004672	protein kinase activity	TAS	molecular function
GO:0006464	cellular protein modification process	TAS	biological process
GO:0018105	peptidyl-serine phosphorylation	IDA	biological process
GO:0005958	DNA-dependent protein kinase-DNA ligase 4 complex	IDA	cellular component
GO:0004677	DNA-dependent protein kinase activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0016567	protein ubiquitination	TAS	biological process
GO:0032481	positive regulation of type I interferon production	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006303	double-strand break repair via nonhomologous end joining	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000723	telomere maintenance	IEA	biological process
GO:0001933	negative regulation of protein phosphorylation	IEA	biological process
GO:0002326	B cell lineage commitment	IEA	biological process
GO:0002328	pro-B cell differentiation	IEA	biological process
GO:0003690	double-stranded DNA binding	IEA	molecular function
GO:0004677	DNA-dependent protein kinase activity	IEA	molecular function
GO:0006303	double-strand break repair via nonhomologous end joining	IEA	biological process
GO:0010332	response to gamma radiation	IEA	biological process
GO:0030098	lymphocyte differentiation	IEA	biological process
GO:0031648	protein destabilization	IEA	biological process
GO:0033151	V(D)J recombination	IEA	biological process
GO:0033152	immunoglobulin V(D)J recombination	IEA	biological process
GO:0033153	T cell receptor V(D)J recombination	IEA	biological process
GO:0035234	ectopic germ cell programmed cell death	IEA	biological process
GO:0002377	immunoglobulin production	IEA	biological process
GO:0002638	negative regulation of immunoglobulin production	IEA	biological process
GO:0014823	response to activity	IEA	biological process
GO:0048538	thymus development	IEA	biological process
GO:0048639	positive regulation of developmental growth	IEA	biological process
GO:2001229	negative regulation of response to gamma radiation	IEA	biological process
GO:0001756	somitogenesis	IEA	biological process
GO:0002360	T cell lineage commitment	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006302	double-strand break repair	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IEA	biological process
GO:0010212	response to ionizing radiation	IEA	biological process
GO:0019899	enzyme binding	IEA	molecular function
GO:0033077	T cell differentiation in thymus	IEA	biological process
GO:0042752	regulation of circadian rhythm	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0002684	positive regulation of immune system process	IEA	biological process
GO:0048146	positive regulation of fibroblast proliferation	IEA	biological process
GO:0048536	spleen development	IEA	biological process
GO:2000773	negative regulation of cellular senescence	IEA	biological process
GO:0016233	telomere capping	IMP	biological process
GO:0050678	regulation of epithelial cell proliferation	IMP	biological process
GO:0097681	double-strand break repair via alternative nonhomologous end joining	TAS	biological process
GO:0006302	double-strand break repair	IMP	biological process
GO:0000784	nuclear chromosome, telomeric region	HDA	cellular component
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0018105	peptidyl-serine phosphorylation	IDA	biological process
GO:0032869	cellular response to insulin stimulus	IMP	biological process
GO:0005667	transcription regulator complex	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0003690	double-stranded DNA binding	IDA	molecular function
GO:0006468	protein phosphorylation	IMP	biological process
GO:0032991	protein-containing complex	IMP	cellular component
GO:0004672	protein kinase activity	IMP	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032993	protein-DNA complex	IDA	cellular component
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0032040	small-subunit processome	IDA	cellular component
GO:0018107	peptidyl-threonine phosphorylation	IDA	biological process
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0000460	maturation of 5.8S rRNA	IDA	biological process
GO:0018105	peptidyl-serine phosphorylation	IDA	biological process
GO:0034511	U3 snoRNA binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0034462	small-subunit processome assembly	IDA	biological process
GO:0005730	nucleolus	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1905221	positive regulation of platelet formation	ISS	biological process
GO:1902036	regulation of hematopoietic stem cell differentiation	ISS	biological process
GO:0045648	positive regulation of erythrocyte differentiation	ISS	biological process
GO:0045621	positive regulation of lymphocyte differentiation	ISS	biological process
GO:0045727	positive regulation of translation	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04110	Cell cycle
hsa03450	Non-homologous end-joining

Diseases

Associated diseases	References
T-B-Severe combined immunodeficiency	KEGG:H00092
T-B-Severe combined immunodeficiency	KEGG:H00092
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq