Descriptions

PRKCA encodes for Protein kinase C (PKC) alpha type belonging to the PCKs family and is involved in various cellular processes, including cell growth, immune response, muscle contraction, and synaptic plasticity. A well-known autoinhibitory region of the PKC family is a pseudosubstrate sequence at residues 1-30 that directly interacts with and blocks the catalytic activity of the kinase domain. Subsequences of the pseudosubstrate region are the C1 domains (C1A and C1B that bind diacylglycerol (DAG)), and the C2 domain (which binds to anionic phospholipids in a Ca2+-dependent manner). The C1A (residues 31-100) domain coordinates a network of domain-domain intramolecular interactions, including direct C1A-C2 contacts. The pseudosubstrate and C1A domains function as a single functional unit and are required to maintain autoinhibition. Additionally, the absence of the C1A domain significantly increases basal activity.

Autoinhibitory domains (AIDs)

Target domain

328-668 (Catalytic domain of the Serine/Threonine Kinase, Classical Protein Kinase C alpha)

Relief mechanism

Ligand binding

Assay

Mutagenesis experiment, Deletion assay, Structural analysis

Target domain

328-668 (Catalytic domain of the Serine/Threonine Kinase, Classical Protein Kinase C alpha)

Relief mechanism

Ligand binding

Assay

Mutagenesis experiment, Deletion assay

Accessory elements

480-503 (Activation loop from InterPro)

Target domain

328-668 (Catalytic domain of the Serine/Threonine Kinase, Classical Protein Kinase C alpha)

Relief mechanism

Assay

References

Autoinhibited structure

Activated structure

7 structures for P17252

Entry ID Method Resolution Chain Position Source
2ELI NMR - A 93-169 PDB
3IW4 X-ray 280 A A/B/C 320-672 PDB
4DNL X-ray 190 A A 155-293 PDB
4RA4 X-ray 263 A A 318-672 PDB
8U37 X-ray 248 A A 320-672 PDB
8UAK X-ray 282 A A 320-672 PDB
AF-P17252-F1 Predicted AlphaFoldDB

350 variants for P17252

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1169715895
CA400679737
2 A>G No ClinGen
TOPMed
rs571827499
CA293124407
4 V>I No ClinGen
Ensembl
CA400679764
rs879211098
6 P>L No ClinGen
gnomAD
rs879211098
CA293124419
6 P>R No ClinGen
gnomAD
rs761243704
CA8720584
7 G>D No ClinGen
ExAC
gnomAD
rs1241363040
CA400679765
7 G>S No ClinGen
gnomAD
CA8720585
rs201024698
8 N>S No ClinGen
1000Genomes
ExAC
gnomAD
CA8720586
rs754430626
9 D>Y No ClinGen
ExAC
gnomAD
CA400679800
rs1567761628
12 A>G No ClinGen
Ensembl
CA400679807
rs1220774095
13 S>F No ClinGen
gnomAD
CA293124435
rs956503012
14 Q>E No ClinGen
TOPMed
gnomAD
CA293124438
rs12944151
14 Q>H No ClinGen
Ensembl
CA400679810
rs1334216181
14 Q>P No ClinGen
gnomAD
CA8720589
rs370194402
15 D>E No ClinGen
ESP
ExAC
gnomAD
rs370194402
CA400679820
15 D>E No ClinGen
ESP
ExAC
gnomAD
rs758584716
CA8720590
16 V>L No ClinGen
ExAC
gnomAD
rs747039638
CA8720592
17 A>V No ClinGen
ExAC
gnomAD
rs542395606
CA8720594
18 N>K No ClinGen
ExAC
gnomAD
rs755078848
CA8720593
18 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA400679840
rs1346778661
19 R>H No ClinGen
gnomAD
rs1264883870
CA400679854
21 A>V No ClinGen
gnomAD
rs1261479202
CA400679866
23 K>R No ClinGen
gnomAD
rs527574267
CA293124452
32 H>N No ClinGen
Ensembl
CA8720596
rs749195097
32 H>Q No ClinGen
ExAC
gnomAD
CA400679930
rs749195097
32 H>Q No ClinGen
ExAC
gnomAD
CA293124459
rs987622627
33 E>Q No ClinGen
TOPMed
rs1193055442
CA400679993
41 A>S No ClinGen
gnomAD
CA8720599
rs200801878
45 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1567761731
CA400680045
48 T>I No ClinGen
Ensembl
CA400680041
rs1321995232
48 T>P No ClinGen
gnomAD
rs760225427
CA8720601
50 C>S No ClinGen
ExAC
gnomAD
CA400680071
rs1332665914
52 H>N No ClinGen
gnomAD
rs768288690
CA8720602
52 H>R No ClinGen
ExAC
gnomAD
rs1229194759
CA400680101
56 F>Y No ClinGen
gnomAD
CA400680112
rs1330669334
57 I>M No ClinGen
TOPMed
rs1231145168
CA400680107
57 I>V No ClinGen
TOPMed
rs1208642777
CA400680140
COSM1239941
60 F>L oesophagus [Cosmic] No ClinGen
cosmic curated
TOPMed
CA293125379
rs376921936
68 Q>H No ClinGen
ESP
TOPMed
rs1567858622
CA400801675
80 E>A No ClinGen
Ensembl
CA400801687
rs1168036317
81 F>L No ClinGen
gnomAD
rs1461673002
CA400801720
86 C>* No ClinGen
gnomAD
rs915754719
COSM4139760
CA293516493
89 A>V ovary [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1450533796
CA400801743
90 D>G No ClinGen
gnomAD
COSM983139
rs758445868
CA8720653
94 D>N endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA8720654
rs766268531
95 T>S No ClinGen
ExAC
gnomAD
CA8720678
rs762002113
100 S>N No ClinGen
ExAC
gnomAD
CA8720679
rs766356302
101 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA400685067
rs1165951448
103 K>N No ClinGen
gnomAD
rs1445801890
CA400685062
103 K>R No ClinGen
gnomAD
rs1355069162
CA400685083
105 K>E No ClinGen
TOPMed
CA293153097
rs201729185
106 I>V No ClinGen
Ensembl
rs267605006
CA293153101
107 H>Y No ClinGen
Ensembl
rs752262521
CA8720683
113 T>A No ClinGen
ExAC
gnomAD
CA293153161
rs879027569
117 H>R No ClinGen
TOPMed
gnomAD
CA293153167
rs201664310
122 L>H No ClinGen
1000Genomes
CA293153169
rs1038606242
123 Y>C No ClinGen
Ensembl
CA400685309
rs1205570869
127 H>R No ClinGen
gnomAD
rs753287547
CA8720686
127 H>Y No ClinGen
ExAC
gnomAD
rs1236116445
CA400685351
132 C>W No ClinGen
TOPMed
gnomAD
rs1324531129
CA400685389
136 D>N No ClinGen
gnomAD
rs879077468
CA293155987
137 M>T No ClinGen
Ensembl
CA8720716
rs773494079
137 M>V No ClinGen
ExAC
gnomAD
CA8720717
rs759379662
138 N>D No ClinGen
ExAC
gnomAD
rs1567951979
CA400685412
139 V>A No ClinGen
Ensembl
CA8720718
rs771987815
139 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA8720720
rs760478437
141 K>N No ClinGen
ExAC
CA8720719
rs775294696
141 K>R No ClinGen
ExAC
gnomAD
rs776243082
CA8720722
144 V>I No ClinGen
ExAC
gnomAD
rs376472217
CA8720724
145 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8720723
rs761489847
145 I>N No ClinGen
ExAC
rs1459780030
CA400685450
145 I>V No ClinGen
TOPMed
rs750003387
CA8720725
146 N>S No ClinGen
ExAC
gnomAD
CA400685461
rs1196245554
147 V>I No ClinGen
TOPMed
rs752033472
CA8720728
149 S>R No ClinGen
ExAC
gnomAD
rs752033472
CA400685479
149 S>R No ClinGen
ExAC
gnomAD
CA8720730
rs781720378
152 G>R No ClinGen
ExAC
gnomAD
CA400685525
rs1567952072
156 T>A No ClinGen
Ensembl
CA400685543
rs1382662679
158 K>R No ClinGen
TOPMed
gnomAD
rs1567952088
CA400685549
159 R>T No ClinGen
Ensembl
rs1303564138
COSM76052
CA400685561
161 R>Q ovary [Cosmic] No ClinGen
cosmic curated
gnomAD
CA293156044
rs372542565
162 I>V No ClinGen
ESP
TOPMed
rs1407008672
CA400685574
163 Y>F No ClinGen
gnomAD
rs778155542
CA8720733
165 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA8720734
rs749323079
166 A>T No ClinGen
ExAC
gnomAD
CA400685594
rs1263068379
166 A>V No ClinGen
gnomAD
rs1349191801
CA400685624
171 E>Q No ClinGen
gnomAD
CA400685632
rs1216473892
172 K>E No ClinGen
TOPMed
gnomAD
rs376898012
CA8720735
174 H>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376898012
CA400685649
174 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1710660
rs1567952142
CA400685647
174 H>Y skin [Cosmic] No ClinGen
cosmic curated
Ensembl
COSM163728
rs1462693086
CA400684183
178 R>* breast [Cosmic] No ClinGen
cosmic curated
gnomAD
rs151214307
CA293134860
178 R>Q No ClinGen
ESP
TOPMed
gnomAD
CA400684211
rs1446131290
182 N>S No ClinGen
gnomAD
rs776863583
CA8720756
182 N>Y No ClinGen
ExAC
gnomAD
rs778898336
CA8720757
183 L>R No ClinGen
ExAC
gnomAD
CA400684237
COSM1710661
rs1308387490
186 M>I skin [Cosmic] No ClinGen
cosmic curated
gnomAD
CA8720758
rs200732611
186 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1037966573
CA293134886
201 I>T No ClinGen
TOPMed
rs776558609
CA293134894
203 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs1368594029
CA400684348
203 D>H No ClinGen
gnomAD
rs776558609
CA8720760
203 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA400684366
rs1343859163
205 K>N No ClinGen
TOPMed
rs1200620032
CA400684363
205 K>R No ClinGen
TOPMed
CA400684404
rs1459950139
210 Q>R No ClinGen
gnomAD
CA400684424
rs1411621502
213 K>T No ClinGen
gnomAD
CA400684438
rs1181146279
215 I>N No ClinGen
gnomAD
rs769603612
CA8720762
216 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8720763
rs532000022
216 R>H No ClinGen
1000Genomes
ExAC
gnomAD
rs140400644
CA8720764
217 S>C No ClinGen
ESP
ExAC
rs759130548
CA8720767
221 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA8720769
rs753286297
222 Q>H No ClinGen
ExAC
gnomAD
rs1428713498
CA400684503
225 E>A No ClinGen
TOPMed
CA400684500
rs1297560368
225 E>Q No ClinGen
TOPMed
rs761072166
CA293134929
228 T>I No ClinGen
ExAC
gnomAD
rs761072166
CA8720770
228 T>K No ClinGen
ExAC
gnomAD
rs1337976930
CA400684572
233 P>R No ClinGen
gnomAD
CA400684570
rs1360216746
233 P>S No ClinGen
gnomAD
rs1404643413
CA400684601
237 D>G No ClinGen
TOPMed
CA293135382
rs878902960
238 R>* No ClinGen
gnomAD
CA400684606
rs776118914
238 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA8720787
rs776118914
238 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8720788
rs761303069
239 R>* No ClinGen
ExAC
gnomAD
rs199575835
CA8720790
242 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs199575835
CA8720789
242 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA400684630
rs1318686404
243 E>G No ClinGen
gnomAD
CA293135404
rs879174883
247 W>R No ClinGen
Ensembl
CA8720792
rs1191887100
249 R>Q No ClinGen
TOPMed
rs749197302
CA293135405
252 R>G No ClinGen
Ensembl
CA8720795
rs750671800
254 D>V No ClinGen
ExAC
gnomAD
rs1257897049
CA400684718
255 F>L No ClinGen
TOPMed
rs758455185
CA8720796
256 M>V No ClinGen
ExAC
gnomAD
CA8720799
rs756067154
266 L>V No ClinGen
ExAC
gnomAD
CA400684795
rs1231170984
267 M>I No ClinGen
TOPMed
rs1408759009
CA400684791
267 M>L No ClinGen
TOPMed
gnomAD
rs748972010
CA8720801
269 M>I No ClinGen
ExAC
TOPMed
rs770791840
CA8720802
270 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs770791840
CA400684817
270 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA400684825
rs1425686580
272 S>C No ClinGen
gnomAD
CA293135439
rs771675464
272 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs372242332
CA8720804
272 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs745511133
CA8720822
275 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs140607549
CA8720824
278 L>F No ClinGen
ESP
ExAC
gnomAD
CA400684901
rs1309379769
281 E>K No ClinGen
gnomAD
CA400684917
rs1196807485
283 G>S No ClinGen
gnomAD
rs748732162
CA8720828
288 V>I No ClinGen
ExAC
gnomAD
CA8720829
rs770142713
289 P>S No ClinGen
ExAC
gnomAD
rs773628505
CA8720830
290 I>V No ClinGen
ExAC
gnomAD
CA400684977
rs1168175864
291 P>L No ClinGen
TOPMed
gnomAD
CA293135771
rs121917733
294 D>G No ClinGen
Ensembl
CA8720835
rs774664493
299 M>V No ClinGen
ExAC
gnomAD
rs1598875342
CA400685159
301 L>F No ClinGen
Ensembl
rs759487890
CA8720836
302 R>K No ClinGen
ExAC
gnomAD
CA400685228
rs1598875352
305 F>S No ClinGen
Ensembl
rs1355720093
CA400685238
306 E>K No ClinGen
TOPMed
rs772038327
CA8720855
310 L>V No ClinGen
ExAC
gnomAD
rs760849115
CA8720857
312 P>R No ClinGen
ExAC
gnomAD
CA400685718
rs1220072648
312 P>S No ClinGen
TOPMed
rs1288619916
CA400685750
317 V>I No ClinGen
gnomAD
CA8720858
rs765196382
319 S>N No ClinGen
ExAC
gnomAD
CA8720860
rs762784660
321 S>P No ClinGen
ExAC
gnomAD
rs1196162859
CA400685790
323 D>H No ClinGen
gnomAD
CA8720863
rs754719581
324 R>G No ClinGen
ExAC
gnomAD
rs1160172620
CA400685797
324 R>K No ClinGen
gnomAD
rs1269273559
CA400685806
325 K>R No ClinGen
TOPMed
CA400685811
rs1378321864
326 Q>E No ClinGen
gnomAD
rs1418829771
CA400685819
327 P>A No ClinGen
TOPMed
gnomAD
CA8720864
rs780725433
327 P>L No ClinGen
ExAC
gnomAD
CA8720865
rs752189270
328 S>A No ClinGen
ExAC
gnomAD
CA8720866
rs149601883
329 N>D No ClinGen
ESP
ExAC
gnomAD
CA400685836
rs1330535595
330 N>D No ClinGen
gnomAD
CA400685845
rs1383892769
331 L>V No ClinGen
Ensembl
CA400685849
rs1303683158
332 D>N No ClinGen
TOPMed
rs749845868
CA8720868
333 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA8720869
rs376086959
333 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8720870
rs376086959
333 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1383145434
CA400685863
334 V>A No ClinGen
gnomAD
rs1274003131
CA400685875
336 L>F No ClinGen
TOPMed
rs148368351
CA8720872
337 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1489277782
CA400685904
340 N>S No ClinGen
gnomAD
rs773258598
CA8720876
343 M>T No ClinGen
ExAC
gnomAD
CA8720877
rs373125854
344 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8720904
rs147347370
357 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8720905
rs765731873
360 G>S No ClinGen
ExAC
gnomAD
CA8720906
rs139505198
365 Y>F No ClinGen
ESP
ExAC
TOPMed
rs1158533362
CA400686132
371 K>N No ClinGen
gnomAD
CA400686155
rs1321517380
375 V>M No ClinGen
Ensembl
CA400686167
rs879041600
376 I>M No ClinGen
TOPMed
rs1220047208
CA400686165
376 I>T No ClinGen
gnomAD
rs1417568507
CA400686176
378 D>N No ClinGen
TOPMed
rs748202197
CA8720914
381 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs769786910
CA8720916
385 M>K No ClinGen
ExAC
gnomAD
rs769786910
CA8720915
385 M>T No ClinGen
ExAC
gnomAD
rs745835054
CA8720917
388 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA400686256
rs1199673071
389 R>* No ClinGen
TOPMed
gnomAD
COSM983153
CA8720918
rs561747335
389 R>Q endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA400686262
rs1260537657
390 V>A No ClinGen
TOPMed
rs775320348
CA8720919
390 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA293167562
rs878948261
392 A>V No ClinGen
TOPMed
rs1568003918
CA400686285
394 L>P No ClinGen
Ensembl
CA8720920
rs760475739
395 D>E No ClinGen
ExAC
gnomAD
rs912687125
CA293167581
395 D>G No ClinGen
Ensembl
rs1421635110
CA400686301
397 P>T No ClinGen
gnomAD
rs145121663
CA8720921
398 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145121663
CA8720922
398 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400686309
rs1477516481
398 P>S No ClinGen
gnomAD
rs764698470
CA8720924
401 T>M No ClinGen
ExAC
gnomAD
CA400686350
rs995374816
404 H>Q No ClinGen
TOPMed
gnomAD
rs995374816
CA293167620
404 H>Q No ClinGen
TOPMed
gnomAD
CA400686357
rs1339360556
406 C>S No ClinGen
gnomAD
rs1598908430
CA400686406
411 D>Y No ClinGen
Ensembl
rs1025381258
CA293169732
412 R>Q No ClinGen
gnomAD
CA400686436
rs768035157
415 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA8720948
rs541841621
416 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs756351469
CA8720949
420 V>I No ClinGen
ExAC
gnomAD
rs1331371121
COSM3764621
CA400686480
422 G>S central_nervous_system [Cosmic] No ClinGen
cosmic curated
TOPMed
CA8720953
rs531167467
426 M>I No ClinGen
1000Genomes
ExAC
gnomAD
rs565487208
CA8720952
426 M>T No ClinGen
1000Genomes
ExAC
CA8720954
rs375513201
430 Q>* No ClinGen
ESP
ExAC
gnomAD
CA293169805
rs375513201
430 Q>K No ClinGen
ESP
ExAC
gnomAD
rs1598908491
CA400686556
433 G>R No ClinGen
Ensembl
CA400686578
rs1157234209
436 K>E No ClinGen
gnomAD
rs1396470503
CA400686591
437 E>D No ClinGen
TOPMed
CA293169815
rs990115740
437 E>G No ClinGen
Ensembl
rs780913123
CA8720956
440 A>V No ClinGen
ExAC
gnomAD
CA8720975
rs747860021
443 Y>* No ClinGen
ExAC
gnomAD
CA8720976
COSM212252
rs755962439
444 A>V endometrium breast [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs772638644
CA8720982
452 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1175972657
CA400686699
452 F>L No ClinGen
TOPMed
gnomAD
CA400686714
rs1278940098
454 L>V No ClinGen
gnomAD
CA8720984
rs760897668
457 R>I No ClinGen
ExAC
gnomAD
rs916837548
CA293172148
458 G>A No ClinGen
TOPMed
gnomAD
COSM1180088
CA8720998
rs745329705
469 V>I pancreas prostate [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA400686837
rs1568007965
470 M>K No ClinGen
Ensembl
rs771633891
CA8720999
470 M>L No ClinGen
ExAC
gnomAD
rs1568007965
CA400686838
470 M>T No ClinGen
Ensembl
CA8721000
rs771633891
470 M>V No ClinGen
ExAC
gnomAD
rs768894580
CA8721002
474 E>K No ClinGen
ExAC
gnomAD
rs765405625
CA8721005
485 C>G No ClinGen
ExAC
rs1377657903
CA400686980
489 M>I No ClinGen
gnomAD
rs34406842
VAR_042303
CA8721007
489 M>V No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs766524625
CA8721008
490 M>T No ClinGen
ExAC
gnomAD
CA8721009
rs752577272
491 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs760726899
CA8721010
493 V>I No ClinGen
ExAC
gnomAD
rs763954407
CA400687012
494 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs763954407
CA8721011
494 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs867898293
CA293172787
498 F>I No ClinGen
Ensembl
rs750145950
CA8721015
506 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA400687089
rs750145950
506 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA8721016
rs757811919
508 E>V No ClinGen
ExAC
gnomAD
rs750091036
CA8721034
511 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA8721036
rs758127330
512 Y>F No ClinGen
ExAC
CA8721037
rs779586057
514 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs929429787
CA293155223
516 G>E No ClinGen
TOPMed
gnomAD
rs1400087303
CA400687168
516 G>R No ClinGen
TOPMed
CA400687182
rs1181432857
518 S>P No ClinGen
gnomAD
CA8721040
rs781649712
524 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs748695583
CA8721041
525 G>S No ClinGen
ExAC
gnomAD
COSM561868
CA8721043
rs563946455
526 V>I lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA400687253
rs1398642855
528 L>F No ClinGen
gnomAD
rs1568025885
CA400687274
531 M>T No ClinGen
Ensembl
CA293166651
rs926571782
542 D>N No ClinGen
Ensembl
rs1568034041
CA400687847
542 D>V No ClinGen
Ensembl
rs989781281
CA293166667
544 D>N No ClinGen
gnomAD
rs1482134884
CA400687865
545 E>K No ClinGen
TOPMed
gnomAD
CA293166684
rs34133255
548 Q>H No ClinGen
Ensembl
CA293166702
rs145582519
550 I>V No ClinGen
ESP
TOPMed
gnomAD
rs200189588
CA293166713
554 N>H No ClinGen
Ensembl
CA293166731
rs945360674
554 N>S No ClinGen
TOPMed
gnomAD
CA293166735
rs1041174047
555 V>I No ClinGen
TOPMed
gnomAD
CA400687946
rs1340824301
556 S>F No ClinGen
TOPMed
rs758561582
CA400687954
557 Y>* No ClinGen
ExAC
TOPMed
gnomAD
rs932834899
CA293166755
558 P>Q No ClinGen
Ensembl
CA400687969
rs1308056551
560 S>P No ClinGen
gnomAD
CA8721067
rs775765715
562 S>T No ClinGen
ExAC
rs1205271820
CA400687991
563 K>M No ClinGen
TOPMed
gnomAD
rs1205271820
CA400687990
563 K>R No ClinGen
TOPMed
gnomAD
CA400688009
rs1174674611
566 V>L No ClinGen
TOPMed
CA8721068
rs6504459
VAR_050558
568 V>I No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA8721071
rs762789455
570 K>Q No ClinGen
ExAC
CA8721118
rs763386871
573 M>I No ClinGen
ExAC
gnomAD
CA8721117
rs750987304
573 M>L No ClinGen
ExAC
gnomAD
CA8721119
rs766918637
574 T>I No ClinGen
ExAC
gnomAD
rs1598945323
CA400688082
575 K>N No ClinGen
Ensembl
rs1598945336
CA400688087
576 H>P No ClinGen
Ensembl
rs751820837
CA8721120
576 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA400688086
rs1272799772
576 H>Y No ClinGen
gnomAD
CA8721122
rs755097684
578 A>G No ClinGen
ExAC
gnomAD
CA8721121
rs755097684
578 A>V No ClinGen
ExAC
gnomAD
CA8721123
rs752683507
579 K>N No ClinGen
ExAC
gnomAD
CA400688107
rs752683507
579 K>N No ClinGen
ExAC
gnomAD
CA400688109
rs1467859917
580 R>W No ClinGen
TOPMed
CA400688132
rs1193798167
584 G>R No ClinGen
TOPMed
gnomAD
CA8721126
rs144172717
586 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144172717
CA8721125
586 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8721128
rs779879529
587 G>R No ClinGen
ExAC
gnomAD
CA293168319
rs779879529
587 G>W No ClinGen
ExAC
gnomAD
CA400688158
rs1598945398
588 E>G No ClinGen
Ensembl
rs1283176712
CA400688171
590 D>N No ClinGen
TOPMed
CA8721131
rs776376975
591 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA400688190
rs1304789263
593 E>Q No ClinGen
TOPMed
rs867890925
CA293168349
594 H>N No ClinGen
gnomAD
rs867890925
CA400688198
594 H>Y No ClinGen
gnomAD
CA400688216
rs769392914
596 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA400688224
rs1328249752
597 F>L No ClinGen
gnomAD
rs773823088
CA8721134
598 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs763614166
CA8721135
599 R>W No ClinGen
ExAC
gnomAD
CA293168384
rs923604011
601 D>N No ClinGen
TOPMed
CA8721136
rs767006638
602 W>* No ClinGen
ExAC
gnomAD
rs1236969177
CA400688258
603 E>K No ClinGen
gnomAD
CA400688269
rs1157251571
604 K>T No ClinGen
TOPMed
rs759979805
CA8721138
607 N>H No ClinGen
ExAC
gnomAD
CA293168388
rs765617766
608 R>G No ClinGen
gnomAD
CA8721139
COSM1263057
rs767590051
609 E>Q oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA400688313
rs1568035475
610 I>M No ClinGen
Ensembl
CA400688328
rs1192456628
613 P>T No ClinGen
gnomAD
CA400688364
rs1191547383
618 V>M No ClinGen
gnomAD
CA293182340
rs369523075
619 C>Y No ClinGen
ESP
TOPMed
CA293182351
rs879207427
621 K>R No ClinGen
Ensembl
rs1289928115
CA400688406
622 G>* No ClinGen
TOPMed
rs868351119
CA293182352
622 G>E No ClinGen
Ensembl
rs1598021084
CA400688450
628 K>T No ClinGen
Ensembl
rs755762168
CA8721171
629 F>S No ClinGen
ExAC
TOPMed
gnomAD
rs561355502
COSM1324893
CA8721173
632 R>* ovary [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA8721174
COSM1563701
rs140466753
632 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
CA400688483
rs1197371682
633 G>E No ClinGen
gnomAD
RCV000957647
CA8721179
rs141376042
636 V>I No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA8721182
rs761859483
645 I>V No ClinGen
ExAC
gnomAD
CA400688572
rs1377169489
647 N>S No ClinGen
gnomAD
rs759461144
CA8721185
648 I>M No ClinGen
ExAC
gnomAD
CA8721184
rs751445956
648 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA8721183
rs765338275
648 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs767363000
CA8721186
649 D>E No ClinGen
ExAC
gnomAD
rs1412397562
CA400688594
650 Q>H No ClinGen
gnomAD
rs752497956
CA8721187
651 S>F No ClinGen
ExAC
gnomAD
rs369070488
CA293182408
COSM983166
657 S>L endometrium [Cosmic] No ClinGen
cosmic curated
ESP
TOPMed
gnomAD
rs753589948
CA8721190
659 V>A No ClinGen
ExAC
gnomAD
CA400688660
rs1258505958
660 N>S No ClinGen
gnomAD
rs778547161
CA8721192
661 P>T No ClinGen
ExAC
gnomAD
rs745380001
CA8721193
662 Q>R No ClinGen
ExAC
gnomAD
rs1173120345
CA400688703
666 P>L No ClinGen
gnomAD
CA8721195
rs373125445
667 I>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400688705
rs373125445
667 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8721197
rs747321782
668 L>F No ClinGen
ExAC
gnomAD
CA400688713
rs1173461311
668 L>S No ClinGen
gnomAD
CA8721198
rs150241910
669 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1311799900
CA400688724
670 S>G No ClinGen
gnomAD
rs538946868
CA8721199
670 S>N No ClinGen
1000Genomes
ExAC
gnomAD
CA400688732
rs1171007232
671 A>S No ClinGen
TOPMed
rs773277158
CA8721201
672 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA400688742
rs1233714386
673 V>R No ClinGen
gnomAD

No associated diseases with P17252

13 regional properties for P17252

Type Name Position InterPro Accession
domain C2 domain 158 - 277 IPR000008
domain Protein kinase domain 339 - 597 IPR000719
domain AGC-kinase, C-terminal 598 - 668 IPR000961
domain Protein kinase C-like, phorbol ester/diacylglycerol-binding domain 36 - 87 IPR002219-1
domain Protein kinase C-like, phorbol ester/diacylglycerol-binding domain 101 - 153 IPR002219-2
active_site Serine/threonine-protein kinase, active site 459 - 471 IPR008271
binding_site Protein kinase, ATP binding site 345 - 368 IPR017441
domain Protein kinase, C-terminal 624 - 658 IPR017892
domain Diacylglycerol/phorbol-ester binding 34 - 48 IPR020454-1
domain Diacylglycerol/phorbol-ester binding 50 - 59 IPR020454-2
domain Diacylglycerol/phorbol-ester binding 63 - 74 IPR020454-3
domain Diacylglycerol/phorbol-ester binding 140 - 152 IPR020454-4
domain Classical Protein Kinase C alpha, catalytic domain 328 - 668 IPR034663

10 GO annotations of cellular component

Name Definition
alphav-beta3 integrin-PKCalpha complex A protein complex that consists of an alphav-beta3 integrin complex bound to protein kinase C alpha.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endoplasmic reticulum The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
mitochondrial membrane Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope.
mitochondrion A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
perinuclear region of cytoplasm Cytoplasm situated near, or occurring around, the nucleus.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

11 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
calcium-dependent protein kinase C activity Calcium-dependent catalysis of the reaction: ATP + a protein = ADP + a phosphoprotein.
enzyme binding Binding to an enzyme, a protein with catalytic activity.
histone kinase activity (H3-T6 specific) Catalysis of the transfer of a phosphate group to the threonine-6 residue of the N-terminal tail of histone H3.
integrin binding Binding to an integrin.
protein kinase activity Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP.
protein kinase C activity Catalysis of the reaction: ATP + a protein = ADP + a phosphoprotein. This reaction requires diacylglycerol.
protein serine kinase activity Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.
protein serine/threonine kinase activity Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.
protein serine/threonine/tyrosine kinase activity Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
zinc ion binding Binding to a zinc ion (Zn).

28 GO annotations of biological process

Name Definition
angiogenesis Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.
apoptotic signaling pathway The series of molecular signals which triggers the apoptotic death of a cell. The pathway starts with reception of a signal, and ends when the execution phase of apoptosis is triggered.
cell adhesion The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
desmosome assembly A cellular process that results in the aggregation, arrangement and bonding together of a set of components to form a desmosome. A desmosome is a patch-like intercellular junction found in vertebrate tissues, consisting of parallel zones of two cell membranes, separated by an space of 25-35 nm, and having dense fibrillar plaques in the subjacent cytoplasm.
histone H3-T6 phosphorylation OBSOLETE. The modification of histone H3 by the addition of an phosphate group to a threonine residue at position 6 of the histone.
intracellular signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
mitotic nuclear membrane disassembly The mitotic cell cycle process in which the controlled partial or complete breakdown of the nuclear membranes during occurs during mitosis.
negative regulation of glial cell apoptotic process Any process that stops, prevents, or reduces the frequency, rate, or extent of glial cell apoptotic process.
peptidyl-serine phosphorylation The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine.
peptidyl-threonine phosphorylation The phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine.
positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway Any process that activates or increases the frequency, rate or extent of an adenylate cyclase-activating G protein-coupled receptor signaling pathway.
positive regulation of angiogenesis Any process that activates or increases angiogenesis.
positive regulation of blood vessel endothelial cell migration Any process that activates or increases the frequency, rate or extent of the migration of the endothelial cells of blood vessels.
positive regulation of bone resorption Any process that activates or increases the frequency, rate or extent of bone resorption.
positive regulation of cardiac muscle hypertrophy Any process that increases the rate, frequency or extent of the enlargement or overgrowth of all or part of the heart due to an increase in size (not length) of individual cardiac muscle fibers, without cell division.
positive regulation of cell adhesion Any process that activates or increases the frequency, rate or extent of cell adhesion.
positive regulation of cell migration Any process that activates or increases the frequency, rate or extent of cell migration.
positive regulation of dense core granule biogenesis Any process that activates or increases the frequency, rate or extent of dense core granule biogenesis.
positive regulation of endothelial cell migration Any process that increases the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium.
positive regulation of endothelial cell proliferation Any process that activates or increases the rate or extent of endothelial cell proliferation.
positive regulation of ERK1 and ERK2 cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
positive regulation of lipopolysaccharide-mediated signaling pathway Any process that activates or increases the frequency, rate or extent of signaling in response to detection of lipopolysaccharide.
positive regulation of macrophage differentiation Any process that activates or increases the frequency, rate or extent of macrophage differentiation.
positive regulation of mitotic cell cycle Any process that activates or increases the rate or extent of progression through the mitotic cell cycle.
protein phosphorylation The process of introducing a phosphate group on to a protein.
regulation of mRNA stability Any process that modulates the propensity of mRNA molecules to degradation. Includes processes that both stabilize and destabilize mRNAs.
regulation of platelet aggregation Any process that modulates the rate, frequency or extent of platelet aggregation. Platelet aggregation is the adhesion of one platelet to one or more other platelets via adhesion molecules.
response to interleukin-1 Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-1 stimulus.

40 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P24583 PKC1 Protein kinase C-like 1 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) SS
P05128 PRKCG Protein kinase C gamma type Bos taurus (Bovine) SS
P05126 PRKCB Protein kinase C beta type Bos taurus (Bovine) SS
P04409 PRKCA Protein kinase C alpha type Bos taurus (Bovine) EV SS
P13677 inaC Protein kinase C, eye isozyme Drosophila melanogaster (Fruit fly) SS
P05130 Pkc53E Protein kinase C, brain isozyme Drosophila melanogaster (Fruit fly) SS
O15530 PDPK1 3-phosphoinositide-dependent protein kinase 1 Homo sapiens (Human) EV
Q05513 PRKCZ Protein kinase C zeta type Homo sapiens (Human) SS
P41743 PRKCI Protein kinase C iota type Homo sapiens (Human) EV
Q16512 PKN1 Serine/threonine-protein kinase N1 Homo sapiens (Human) EV
Q6P5Z2 PKN3 Serine/threonine-protein kinase N3 Homo sapiens (Human) SS
Q16513 PKN2 Serine/threonine-protein kinase N2 Homo sapiens (Human) EV
P24723 PRKCH Protein kinase C eta type Homo sapiens (Human) SS
Q02156 PRKCE Protein kinase C epsilon type Homo sapiens (Human) SS
Q04759 PRKCQ Protein kinase C theta type Homo sapiens (Human) PR
Q05655 PRKCD Protein kinase C delta type Homo sapiens (Human) SS
P05129 PRKCG Protein kinase C gamma type Homo sapiens (Human) SS
P05771 PRKCB Protein kinase C beta type Homo sapiens (Human) SS
P31751 AKT2 RAC-beta serine/threonine-protein kinase Homo sapiens (Human) EV SS
P31749 AKT1 RAC-alpha serine/threonine-protein kinase Homo sapiens (Human) EV
Q9Y243 AKT3 RAC-gamma serine/threonine-protein kinase Homo sapiens (Human) SS
Q96BR1 SGK3 Serine/threonine-protein kinase Sgk3 Homo sapiens (Human) SS
Q9HBY8 SGK2 Serine/threonine-protein kinase Sgk2 Homo sapiens (Human) SS
O00141 SGK1 Serine/threonine-protein kinase Sgk1 Homo sapiens (Human) PR
Q15208 STK38 Serine/threonine-protein kinase 38 Homo sapiens (Human) EV
Q9Y2H1 STK38L Serine/threonine-protein kinase 38-like Homo sapiens (Human) EV
Q6A1A2 PDPK2P Putative 3-phosphoinositide-dependent protein kinase 2 Homo sapiens (Human) PR
P63318 Prkcg Protein kinase C gamma type Mus musculus (Mouse) SS
P68404 Prkcb Protein kinase C beta type Mus musculus (Mouse) SS
P20444 Prkca Protein kinase C alpha type Mus musculus (Mouse) SS
P16054 Prkce Protein kinase C epsilon type Mus musculus (Mouse) PR
P23298 Prkch Protein kinase C eta type Mus musculus (Mouse) PR
P68403 Prkcb Protein kinase C beta type Rattus norvegicus (Rat) SS
P63319 Prkcg Protein kinase C gamma type Rattus norvegicus (Rat) SS
Q64617 Prkch Protein kinase C eta type Rattus norvegicus (Rat) PR
P05696 Prkca Protein kinase C alpha type Rattus norvegicus (Rat) SS
P90980 pkc-2 Protein kinase C-like 2 Caenorhabditis elegans SS
Q9SUA3 D6PKL1 Serine/threonine-protein kinase D6PKL1 Arabidopsis thaliana (Mouse-ear cress) PR
A8KBH6 prkcb Protein kinase C beta type Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) SS
Q7SY24 prkcbb Protein kinase C beta type Danio rerio (Zebrafish) (Brachydanio rerio) SS
10 20 30 40 50 60
MADVFPGNDS TASQDVANRF ARKGALRQKN VHEVKDHKFI ARFFKQPTFC SHCTDFIWGF
70 80 90 100 110 120
GKQGFQCQVC CFVVHKRCHE FVTFSCPGAD KGPDTDDPRS KHKFKIHTYG SPTFCDHCGS
130 140 150 160 170 180
LLYGLIHQGM KCDTCDMNVH KQCVINVPSL CGMDHTEKRG RIYLKAEVAD EKLHVTVRDA
190 200 210 220 230 240
KNLIPMDPNG LSDPYVKLKL IPDPKNESKQ KTKTIRSTLN PQWNESFTFK LKPSDKDRRL
250 260 270 280 290 300
SVEIWDWDRT TRNDFMGSLS FGVSELMKMP ASGWYKLLNQ EEGEYYNVPI PEGDEEGNME
310 320 330 340 350 360
LRQKFEKAKL GPAGNKVISP SEDRKQPSNN LDRVKLTDFN FLMVLGKGSF GKVMLADRKG
370 380 390 400 410 420
TEELYAIKIL KKDVVIQDDD VECTMVEKRV LALLDKPPFL TQLHSCFQTV DRLYFVMEYV
430 440 450 460 470 480
NGGDLMYHIQ QVGKFKEPQA VFYAAEISIG LFFLHKRGII YRDLKLDNVM LDSEGHIKIA
490 500 510 520 530 540
DFGMCKEHMM DGVTTRTFCG TPDYIAPEII AYQPYGKSVD WWAYGVLLYE MLAGQPPFDG
550 560 570 580 590 600
EDEDELFQSI MEHNVSYPKS LSKEAVSVCK GLMTKHPAKR LGCGPEGERD VREHAFFRRI
610 620 630 640 650 660
DWEKLENREI QPPFKPKVCG KGAENFDKFF TRGQPVLTPP DQLVIANIDQ SDFEGFSYVN
670
PQFVHPILQS AV