PRKDC_HUMAN
Source:
PM19886704
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
PRKDC
, HYRC, HYRC1
Protein names and data:
PRKDC_HUMAN
, DNA-dependent protein kinase catalytic subunit; DNA-PK catalytic subunit; DNA-PKcs; 2.7.11.1
, DNPK1; p460
Lenght: 4128 a.a.
Mass: 469089 Da
fasta formatted sequence
Function:
Serine/threonine-protein kinase that acts as a molecular sensor for DNA damage. Involved in DNA nonhomologous 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). The assembly of the DNA-PK complex at DNA ends is also required for the NHEJ ligation step. Required to protect and align broken ends of DNA. May also act as a scaffold protein to aid the localization of DNA repair proteins to the site of damage. Found at the ends of chromosomes, suggesting a further role in the maintenance of telomeric stability and the prevention of chromosomal end fusion. Also involved in modulation of transcription. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates 'Ser-139' of histone variant H2AX/H2AFX, thereby regulating DNA damage response mechanism. Phosphorylates DCLRE1C, c-Abl/ABL1, histone H1, HSPCA, c-jun/JUN, p53/TP53, PARP1, POU2F1, DHX9, SRF, XRCC1, 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.
Catalytic activity:
ATP + a protein = ADP + a phosphoprotein.
Cellular location:
Nucleus. Nucleus, nucleolus.
Genetic variants
6 - 6
A -> S (in dbSNP:rs8177999). VAR_019179
8177999
263 - 263
K -> N (in a lung adenocarcinoma sample; somatic mutation). VAR_041602
333 - 333
M -> I (in dbSNP:rs8178017). VAR_019180
8178017
420 - 420
V -> I (in dbSNP:rs55925466). VAR_041603
55925466
500 - 500
G -> S (in a metastatic melanoma sample; somatic mutation). VAR_041604
605 - 605
T -> S (in dbSNP:rs8178033). VAR_019181
8178033
649 - 649
F -> L (in dbSNP:rs55811715). VAR_041605
55811715
680 - 680
I -> M (in dbSNP:rs8178040). VAR_019182
8178040
695 - 695
P -> S (in dbSNP:rs8178046). VAR_019183
8178046
1071 - 1071
N -> S (in dbSNP:rs8178070). VAR_019184
8178070
1136 - 1136
R -> H (in a colorectal adenocarcinoma sample; somatic mutation). VAR_041606
1190 - 1190
L -> V (in dbSNP:rs34598508). VAR_041607
34598508
1237 - 1237
A -> T. VAR_041608
1279 - 1279
L -> F. VAR_041609
1314 - 1314
G -> V (in dbSNP:rs8178090). VAR_019185
8178090
1447 - 1447
R -> M (in a lung squamous cell carcinoma sample; somatic mutation). VAR_041610
1588 - 1588
D -> V (in dbSNP:rs8178104). VAR_019186
8178104
1603 - 1603
Q -> H (in dbSNP:rs8178106). VAR_019187
8178106
1619 - 1619
A -> G (in dbSNP:rs56182356). VAR_041611
56182356
1680 - 1680
A -> V (in a metastatic melanoma sample; somatic mutation; dbSNP:rs55735910). VAR_041612
55735910
2023 - 2023
S -> P (in dbSNP:rs56042895). VAR_041613
56042895
2095 - 2095
A -> V (in dbSNP:rs8178147). VAR_019188
8178147
2598 - 2598
R -> Q (in dbSNP:rs55923149). VAR_041614
55923149
2702 - 2702
K -> E (in dbSNP:rs8178178). VAR_019189
8178178
2810 - 2810
S -> N (in a metastatic melanoma sample; somatic mutation). VAR_041615
2899 - 2899
R -> C (in dbSNP:rs4278157). VAR_019190
4278157
2941 - 2941
G -> A (in a lung neuroendocrine carcinoma sample; somatic mutation). VAR_041616
3085 - 3085
E -> D (in dbSNP:rs56135402). VAR_041617
56135402
3149 - 3149
G -> D (in dbSNP:rs8178208). VAR_019191
8178208
3198 - 3198
T -> S (in dbSNP:rs55793951). VAR_041618
55793951
3201 - 3201
P -> S (in dbSNP:rs8178216). VAR_019192
8178216
3404 - 3404
G -> E (in dbSNP:rs8178225). VAR_019193
8178225
3434 - 3434
I -> T (in dbSNP:rs7830743). VAR_019194
7830743
3459 - 3459
N -> S (in dbSNP:rs8178228). VAR_019195
8178228
3562 - 3562
L -> M (in dbSNP:rs8178232). VAR_019196
8178232
3584 - 3584
L -> F. VAR_041619
3702 - 3702
P -> L (in dbSNP:rs8178236). VAR_050534
8178236
3800 - 3800
L -> I. VAR_041620
3836 - 3836
P -> L (in dbSNP:rs8178245). VAR_019197
8178245
3932 - 3932
M -> V. VAR_019198
3936 - 3936
G -> S. VAR_041621
3937 - 3937
V -> M. VAR_041622
Database cross-references
UniProt:
P78527
Ensembl:
ENST00000314191
MIM:
600899
neXtProt:
NX_P78527
Antibodypedia:
P78527
(may not find the protein thus also not any antibody)
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