AutismKB 2.0

Annotation Details for PRKDC


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Basic Information Top
Gene Symbol:PRKDC ( DNA-PKcs,DNAPK,DNPK1,HYRC,HYRC1,XRCC7,p350 )
Gene Full Name: protein kinase, DNA-activated, catalytic polypeptide
Band: 8q11.21
Quick LinksEntrez ID:5591; OMIM: 600899; Uniprot ID:PRKDC_HUMAN; ENSEMBL ID: ENSG00000121031; HGNC ID: 9413
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000784IDA-nuclear chromosome, telomeric region19135898
GO:0005634IDA-nucleus22504299
GO:0005654IDA-nucleoplasm-
GO:0005654TAS-nucleoplasm-
GO:0005667IDA-transcription factor complex19303849
GO:0005730IEA-nucleolus-
GO:0005829TAS-cytosol-
GO:0005958IDA-DNA-dependent protein kinase-DNA ligase 4 complex15194694
GO:0016020IDA-membrane19946888
GO:0031012IDA-extracellular matrix23979707
GO:0032993IDA-protein-DNA complex22504299
GO:0043234IMP-protein complex22504299
GO:0070419IDA-nonhomologous end joining complex20383123
GO ID Evidence Qualifier GO_term References
GO:0003690IDA-double-stranded DNA binding22504299
GO:0003723IDA-RNA binding22658674
GO:0004672IDA-protein kinase activity7671312
GO:0004672IMP-protein kinase activity22504299
GO:0004674IDA-protein serine/threonine kinase activity19303849
GO:0004674TAS-protein serine/threonine kinase activity-
GO:0004677IDA-DNA-dependent protein kinase activity15194694
GO:0005515IPI-protein binding9442054
GO:0005524IEA-ATP binding-
GO:0008134IPI-transcription factor binding19303849
GO:0019899IEA-enzyme binding-
GO:0019904IPI-protein domain specific binding22504299
GO ID Evidence Qualifier GO_term References
GO:0001756IEA-somitogenesis-
GO:0001933ISS-negative regulation of protein phosphorylation-
GO:0002326IEA-B cell lineage commitment-
GO:0002328IEA-pro-B cell differentiation-
GO:0002360IEA-T cell lineage commitment-
GO:0002638IEA-negative regulation of immunoglobulin production-
GO:0002684IEA-positive regulation of immune system process-
GO:0006302IMP-double-strand break repair18710952
GO:0006303TAS-double-strand break repair via nonhomologous end joining-
GO:0006464TAS-cellular protein modification process7671312
GO:0006468IMP-protein phosphorylation22504299
GO:0007420IEA-brain development-
GO:0007507IEA-heart development-
GO:0008283IMP-cell proliferation18710952
GO:0008630IEA-intrinsic apoptotic signaling pathway in response to DNA damage-
GO:0010332IEA-response to gamma radiation-
GO:0014823IEA-response to activity-
GO:0016233IMP-telomere capping18710952
GO:0016567TAS-protein ubiquitination-
GO:0018105IDA-peptidyl-serine phosphorylation15194694
GO:0031648IEA-protein destabilization-
GO:0032481TAS-positive regulation of type I interferon production-
GO:0032869IMP-cellular response to insulin stimulus19303849
GO:0033077IEA-T cell differentiation in thymus-
GO:0033152IEA-immunoglobulin V(D)J recombination-
GO:0033153IEA-T cell receptor V(D)J recombination-
GO:0035234IEA-ectopic germ cell programmed cell death-
GO:0042752ISS-regulation of circadian rhythm-
GO:0043065IEA-positive regulation of apoptotic process-
GO:0043066IMP-negative regulation of apoptotic process24485452
GO:0045944IMP-positive regulation of transcription from RNA polymerase II promoter19303849
GO:0048146IEA-positive regulation of fibroblast proliferation-
GO:0048511IEA-rhythmic process-
GO:0048536IEA-spleen development-
GO:0048538IEA-thymus development-
GO:0048639IEA-positive regulation of developmental growth-
GO:0048660IMP-regulation of smooth muscle cell proliferation25852083
GO:0072431IMP-signal transduction involved in mitotic G1 DNA damage checkpoint21731742
GO:0097681TAS-double-strand break repair via alternative nonhomologous end joining18710952
GO:2000773IEA-negative regulation of cellular senescence-
GO:2001229IEA-negative regulation of response to gamma radiation-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
PRKDCABL11065439312071 Reconstituted Complex
PRKDCABL11115779312071 Reconstituted Complex
PRKDCPARP110665216794079 Affinity Capture-Western
PRKDCPARP111157716794079 Affinity Capture-Western
PRKDCAP1B111157710608806 Protein-peptide
PRKDCAP1B110667110608806 Protein-peptide
PRKDCAKT211157716221682 Biochemical Activity
PRKDCAKT210671116221682 Biochemical Activity
PRKDCAIRE10682320085707 Affinity Capture-MS; Affinity Capture-Western
PRKDCAIRE11157720085707 Affinity Capture-MS; Affinity Capture-Western
PRKDCAR11157715640154 Affinity Capture-MS
PRKDCAR10686215640154 Affinity Capture-MS
PRKDCATM11157710464290 10608806 Affinity Capture-Western; Protein-peptide
PRKDCATM10696210464290 10608806 Affinity Capture-Western; Protein-peptide
PRKDCBRCA110714010608806 Protein-peptide
PRKDCBRCA111157710608806 Protein-peptide
PRKDCCDC5L11157711101529 Affinity Capture-MS; Co-purification
PRKDCCDC5L10742411101529 Affinity Capture-MS; Co-purification
PRKDCCHEK110753610608806 12756247 Protein-peptide; Reconstituted Complex
PRKDCCHEK111157710608806 12756247 Protein-peptide; Reconstituted Complex
PRKDCCHUK1115779632806 Biochemical Activity; Reconstituted Complex
PRKDCCHUK1075699632806 Biochemical Activity; Reconstituted Complex
PRKDCCLN311157720562859 Affinity Capture-MS
PRKDCCLN310761220562859 Affinity Capture-MS
PRKDCDHX911157715613478 Affinity Capture-Western; Biochemical Activity; Co-fractionation
PRKDCDHX910802515613478 Affinity Capture-Western; Biochemical Activity; Co-fractionation
PRKDCE4F110820910608806 Protein-peptide
PRKDCE4F111157710608806 Protein-peptide
PRKDCESR111157716794079 Affinity Capture-Western
PRKDCESR110840316794079 Affinity Capture-Western
PRKDCXRCC611157710064605 15520013 Affinity Capture-Western
PRKDCXRCC610882210064605 15520013 Affinity Capture-Western
PRKDCGBAS11157720562859 Affinity Capture-MS
PRKDCGBAS10890120562859 Affinity Capture-MS
PRKDCKAT2A1115779488450 Biochemical Activity
PRKDCKAT2A1089189488450 Biochemical Activity
PRKDCHIST1H1C11157718258596 Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
PRKDCHIST1H1C10926118258596 Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
PRKDCH2AFX11157714627815 15613478 18406329 Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
PRKDCH2AFX10926814627815 15613478 18406329 Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
PRKDCHDLBP11157715723802 Affinity Capture-Western
PRKDCHDLBP10931915723802 Affinity Capture-Western
PRKDCHSF11095309325337 Reconstituted Complex
PRKDCHSF11115779325337 Reconstituted Complex
PRKDCIKBKB1097679632806 Biochemical Activity
PRKDCIKBKB1115779632806 Biochemical Activity
PRKDCILF21098219442054 17389650 Affinity Capture-Western; Co-purification
PRKDCILF21115779442054 17389650 Affinity Capture-Western; Co-purification
PRKDCILF31115779442054 Affinity Capture-Western; Co-purification
PRKDCILF31098229442054 Affinity Capture-Western; Co-purification
PRKDCPDX110986016166097 Biochemical Activity
PRKDCPDX111157716166097 Biochemical Activity
PRKDCLIG411157710608806 Protein-peptide
PRKDCLIG411016910608806 Protein-peptide
PRKDCLYN1102459748231 Reconstituted Complex
PRKDCLYN1115779748231 Reconstituted Complex
PRKDCMGMT11157716226712 Affinity Capture-MS
PRKDCMGMT11041116226712 Affinity Capture-MS
PRKDCMLH111043817148452 Affinity Capture-MS
PRKDCMLH111157717148452 Affinity Capture-MS
PRKDCMRE11A11157710608806 Protein-peptide
PRKDCMRE11A11050110608806 Protein-peptide
PRKDCNCF21115779914162 Biochemical Activity
PRKDCNCF21107689914162 Biochemical Activity
PRKDCNCF41115779914162 Biochemical Activity
PRKDCNCF41107699914162 Biochemical Activity
PRKDCPCNA11157712171929 Affinity Capture-MS
PRKDCPCNA11114212171929 Affinity Capture-MS
PRKDCPMS211157717148452 Affinity Capture-MS
PRKDCPMS211140417148452 Affinity Capture-MS
PRKDCPOU2F111157714612514 17213819 Biochemical Activity
PRKDCPOU2F111144714612514 17213819 Biochemical Activity
PRKDCPRKAB211155220562859 Affinity Capture-MS
PRKDCPRKAB211157720562859 Affinity Capture-MS
XRCC5PRKDC1115779312071 10446239 12393188 15520013 Affinity Capture-Western; Reconstituted Complex
XRCC5PRKDC1133539312071 10446239 12393188 15520013 Affinity Capture-Western; Reconstituted Complex
CIB1PRKDC1115779372844 Reconstituted Complex; Two-hybrid
CIB1PRKDC1157749372844 Reconstituted Complex; Two-hybrid
EIF2S2PRKDC1144119442054 Co-purification
EIF2S2PRKDC1115779442054 Co-purification
C1DPRKDC1115779679063 Affinity Capture-Western; Biochemical Activity; Reconstituted Complex; Two-hybrid
C1DPRKDC1157059679063 Affinity Capture-Western; Biochemical Activity; Reconstituted Complex; Two-hybrid
TP53PRKDC1115779679063 10608806 12756247 Biochemical Activity; Protein-peptide
TP53PRKDC1130109679063 10608806 12756247 Biochemical Activity; Protein-peptide
NCF1PRKDC1115779914162 Biochemical Activity
NCF1PRKDC5757249914162 Biochemical Activity
RPA2PRKDC11157710064605 Affinity Capture-Western; Reconstituted Complex
RPA2PRKDC11203810064605 Affinity Capture-Western; Reconstituted Complex
RPA1PRKDC11157710064605 Reconstituted Complex
RPA1PRKDC11203710064605 Reconstituted Complex
WRNPRKDC11157710608806 11889123 Affinity Capture-Western; Biochemical Activity; Protein-peptide
WRNPRKDC11332310608806 11889123 Affinity Capture-Western; Biochemical Activity; Protein-peptide
PTSPRKDC11157710608806 Protein-peptide
PTSPRKDC11176910608806 Protein-peptide
RAD17PRKDC11182110608806 Protein-peptide
RAD17PRKDC11157710608806 Protein-peptide
RBBP8PRKDC11157710608806 Protein-peptide
RBBP8PRKDC11186710608806 Protein-peptide
NCOA6PRKDC11157710823961 Affinity Capture-MS; Biochemical Activity
NCOA6PRKDC11669110823961 Affinity Capture-MS; Biochemical Activity
MAPK8PRKDC11157711749722 Biochemical Activity
MAPK8PRKDC11158511749722 Biochemical Activity
MAPK9PRKDC11157711749722 Biochemical Activity
MAPK9PRKDC11158711749722 Biochemical Activity
DCLRE1CPRKDC11157711955432 Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
DCLRE1CPRKDC12217011955432 Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
XRCC4PRKDC11157715520013 Affinity Capture-Western
XRCC4PRKDC11335215520013 Affinity Capture-Western
AICDAPRKDC11157715634916 Affinity Capture-Western; Reconstituted Complex
AICDAPRKDC12149715634916 Affinity Capture-Western; Reconstituted Complex
SAP25PRKDC11157716449650 Affinity Capture-MS
SAP25PRKDC94101816449650 Affinity Capture-MS
KAT5PRKDC11157716603769 Affinity Capture-Western
KAT5PRKDC11577916603769 Affinity Capture-Western
YY1PRKDC11157718026119 Co-purification
YY1PRKDC11336018026119 Co-purification
RECQL5PRKDC11157719270065 Affinity Capture-MS
RECQL5PRKDC11479719270065 Affinity Capture-MS
SUMO2PRKDC11157719394292 Affinity Capture-MS
SUMO2PRKDC11249719394292 Affinity Capture-MS
CHD1LPRKDC11157719661379 19666485 Affinity Capture-MS; Affinity Capture-Western
CHD1LPRKDC11492919661379 19666485 Affinity Capture-MS; Affinity Capture-Western
NR1H4PRKDC11157719833092 Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
NR1H4PRKDC11529619833092 Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
SIRT6PRKDC11960320157594 Affinity Capture-MS; Affinity Capture-Western; Co-localization
SIRT6PRKDC11157720157594 Affinity Capture-MS; Affinity Capture-Western; Co-localization
TELO2PRKDC11157720427287 20801936 Affinity Capture-MS; Affinity Capture-Western
TELO2PRKDC11522320427287 20801936 Affinity Capture-MS; Affinity Capture-Western
TTI1PRKDC11157720427287 Affinity Capture-Western
TTI1PRKDC11503020427287 Affinity Capture-Western
CAMKK2PRKDC11157720562859 Affinity Capture-MS
CAMKK2PRKDC11588920562859 Affinity Capture-MS
C12orf44PRKDC12194820562859 Affinity Capture-MS
C12orf44PRKDC11157720562859 Affinity Capture-MS
DDA1PRKDC11157720562859 Affinity Capture-MS
DDA1PRKDC12248520562859 Affinity Capture-MS
ATG4CPRKDC11157720562859 Affinity Capture-MS
ATG4CPRKDC12437220562859 Affinity Capture-MS
BECN1PRKDC11157720562859 Affinity Capture-MS
BECN1PRKDC11422620562859 Affinity Capture-MS
C8orf41PRKDC11157720801936 Affinity Capture-MS
C8orf41PRKDC12316420801936 Affinity Capture-MS
MKNK1PRKDC11157720936779 Two-hybrid
MKNK1PRKDC11413820936779 Two-hybrid
Gene Symbol Interactant Interaction ID References Description
PRKDCNBN25869915758953 NBS1 interacts with PRKDC (DNA-PKc).
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:104779
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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