PRKDC report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0002326Biological processB cell lineage commitment
GO_0018105Biological processpeptidyl-serine phosphorylation
GO_0006303Biological processdouble-strand break repair via nonhomologous end joining
GO_0032869Biological processcellular response to insulin stimulus
GO_0007507Biological processheart development
GO_0045087Biological processinnate immune response
GO_0006302Biological processdouble-strand break repair
GO_0010332Biological processresponse to gamma radiation
GO_0006974Biological processDNA damage response
GO_0018107Biological processpeptidyl-threonine phosphorylation
GO_0034462Biological processsmall-subunit processome assembly
GO_0033153Biological processT cell receptor V(D)J recombination
GO_0160049Biological processnegative regulation of cGAS/STING signaling pathway
GO_0097681Biological processdouble-strand break repair via alternative nonhomologous end joining
GO_0031648Biological processprotein destabilization
GO_0033152Biological processimmunoglobulin V(D)J recombination
GO_0006338Biological processchromatin remodeling
GO_1905221Biological processpositive regulation of platelet formation
GO_0042752Biological processregulation of circadian rhythm
GO_0048660Biological processregulation of smooth muscle cell proliferation
GO_0033077Biological processT cell differentiation in thymus
GO_0001933Biological processnegative regulation of protein phosphorylation
GO_0016233Biological processtelomere capping
GO_0043066Biological processnegative regulation of apoptotic process
GO_0050678Biological processregulation of epithelial cell proliferation
GO_0036211Biological processprotein modification process
GO_0002328Biological processpro-B cell differentiation
GO_0008630Biological processintrinsic apoptotic signaling pathway in response to DNA damage
GO_1902036Biological processregulation of hematopoietic stem cell differentiation
GO_0001756Biological processsomitogenesis
GO_0000723Biological processtelomere maintenance
GO_0045727Biological processpositive regulation of translation
GO_0002218Biological processactivation of innate immune response
GO_0002360Biological processT cell lineage commitment
GO_0007420Biological processbrain development
GO_0045621Biological processpositive regulation of lymphocyte differentiation
GO_0045648Biological processpositive regulation of erythrocyte differentiation
GO_0000460Biological processmaturation of 5.8S rRNA
GO_0031571Biological processmitotic G1 DNA damage checkpoint signaling
GO_0006468Biological processprotein phosphorylation
GO_0002327Biological processimmature B cell differentiation
GO_0043065Biological processpositive regulation of apoptotic process
GO_0048511Biological processrhythmic process
GO_0035234Biological processectopic germ cell programmed cell death
GO_2001034Biological processpositive regulation of double-strand break repair via nonhomologous end joining
GO_0045944Biological processpositive regulation of transcription by RNA polymerase II
GO_0005730Cellular componentnucleolus
GO_0032993Cellular componentprotein-DNA complex
GO_0016020Cellular componentmembrane
GO_0032040Cellular componentsmall-subunit processome
GO_0032991Cellular componentprotein-containing complex
GO_0005654Cellular componentnucleoplasm
GO_0005958Cellular componentDNA-dependent protein kinase-DNA ligase 4 complex
GO_0005829Cellular componentcytosol
GO_0070418Cellular componentDNA-dependent protein kinase complex
GO_0000781Cellular componentchromosome, telomeric region
GO_0000785Cellular componentchromatin
GO_0005667Cellular componenttranscription regulator complex
GO_0070419Cellular componentnonhomologous end joining complex
GO_0005634Cellular componentnucleus
GO_0034511Molecular functionU3 snoRNA binding
GO_0019899Molecular functionenzyme binding
GO_0004677Molecular functionDNA-dependent protein kinase activity
GO_0019904Molecular functionprotein domain specific binding
GO_0106310Molecular functionprotein serine kinase activity
GO_0003690Molecular functiondouble-stranded DNA binding
GO_0004674Molecular functionprotein serine/threonine kinase activity
GO_0004672Molecular functionprotein kinase activity
GO_0061629Molecular functionRNA polymerase II-specific DNA-binding transcription factor binding
GO_0005524Molecular functionATP binding
GO_0003723Molecular functionRNA binding
GO_0005515Molecular functionprotein binding
GO_0035979Molecular functionhistone H2AXS139 kinase activity

IV. Literature review

[source]
Gene namePRKDC
Protein namenon-specific serine/threonine protein kinase (EC 2.7.11.1)
Protein kinase, DNA-activated, catalytic subunit
DNA-dependent protein kinase catalytic subunit (DNA-PK catalytic subunit) (DNA-PKcs) (EC 2.7.11.1) (DNPK1) (p460)
SynonymsHYRC1
HYRC
DescriptionFUNCTION: 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) . 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 . Act as a scaffold protein to aid the localization of DNA repair proteins to the site of damage . The assembly of the DNA-PK complex at DNA ends is also required for the NHEJ ligation step . 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 . 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 . Binding to U3 small nucleolar RNA, recruits PRKDC and XRCC5/Ku86 to the small-subunit processome . Recognizes the substrate consensus sequence [ST]-Q . Phosphorylates 'Ser-139' of histone variant H2AX, thereby regulating DNA damage response mechanism . 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 . 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 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 . Also regulates the cGAS-STING pathway by catalyzing phosphorylation of CGAS, thereby impairing CGAS oligomerization and activation . Also regulates the cGAS-STING pathway by mediating phosphorylation of PARP1 . .

AccessionsA0A8V8TMR1
ENST00000314191.7 [P78527-1]
ENST00000697603.1
ENST00000338368.7 [P78527-2]
F5GX40
H0YG84
ENST00000536429.1
ENST00000540819.1
P78527