Descriptions

PRKCG encodes for Protein kinase C (PKC) gamma type, belongs to the PCKs family, is involved in various cellular processes, including cell growth, immune response, muscle contraction, and synaptic plasticity. The well-known autoinhibitory region of PKC family is the pseudosubstrate sequence, which directly interacts and blocks catalytic activity of the kinase domain. Subsequence to the pseudosubstrate site is the C1 domains (C1A and C1B, that bind diacylglycerol (DAG)), and C2 domain (bind anionic phospholipids in a Ca2+-dependent manner). C1a (residues 35-92) domain coordinates a network of domain-domain intramolecular interactions, including direct C1a-C2 contacts. The pseudosubstrate and C1a domains operate as a single functional unit and is necessary to maintain autoinhibition. Additionally, in the absence of the C1a domain there is a significant increase in basal activity.

Autoinhibitory domains (AIDs)

Target domain

351-685 (Catalytic domain of the Serine/Threonine Kinase, Classical Protein Kinase C alpha)

Relief mechanism

Ligand binding

Assay

Accessory elements

497-520 (Activation loop from InterPro)

Target domain

351-614 (Protein kinase domain)

Relief mechanism

Assay

References

Autoinhibited structure

Activated structure

3 structures for P05129

Entry ID Method Resolution Chain Position Source
2E73 NMR - A 36-105 PDB
2UZP X-ray 200 A A/B/C 154-295 PDB
AF-P05129-F1 Predicted AlphaFoldDB

455 variants for P05129

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV000035003
CA344650
rs386134157
26 R>G Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000034959
CA344589
rs386134158
41 R>P Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000194843
CA277394
rs797045900
52 C>S Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000034967
RCV001818213
CA344597
rs386134159
VAR_080741
63 G>V SCA14 Spinocerebellar ataxia type 14 [UniProt, ClinVar] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV000501395
CA407412474
rs1555806333
66 C>Y Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001175613
rs2068614711
76 R>* Spinocerebellar ataxia type 14 [ClinVar] Yes ClinVar
dbSNP
rs386134160
CA344608
RCV000034975
77 C>S Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA407412691
RCV000991052
rs1599938631
RCV000992815
77 C>Y Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs17854523
RCV001175616
95 D>E Spinocerebellar ataxia type 14 [ClinVar] Yes ClinVar
dbSNP
rs121918518
CA341275
RCV000014156
101 H>Q Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001175615
rs2068656783
101 H>R Spinocerebellar ataxia type 14 [ClinVar] Yes ClinVar
dbSNP
RCV000034984
rs386134161
101 H>missing Spinocerebellar ataxia type 14 [ClinVar] Yes ClinVar
dbSNP
CA341257
rs121918511
RCV001268861
RCV000014149
VAR_017060
101 H>Y SCA14 Spinocerebellar ataxia type 14 [UniProt, ClinVar] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
rs386134162
CA344621
RCV000034988
114 C>Y Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs2068657131
RCV001256678
116 H>R Spinocerebellar ataxia type 14 [ClinVar] Yes ClinVar
dbSNP
CA341263
rs121918514
RCV000014152
RCV001698941
118 G>D Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000713005
CA344624
RCV000034990
rs386134163
119 S>F Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000014150
CA341259
rs121918512
VAR_017061
119 S>P SCA14 Spinocerebellar ataxia type 14 [UniProt, ClinVar] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
rs386134165
CA344630
RCV000034992
123 G>E Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA344627
RCV000034991
rs386134164
123 G>R Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs386134164
RCV001288726
RCV000991053
CA407414256
123 G>R Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1599943097
RCV000991047
CA407414280
127 Q>K Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000517594
rs121918515
RCV000014153
CA341266
127 Q>R Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA341261
rs121918513
RCV000014151
VAR_017062
128 G>D SCA14 Spinocerebellar ataxia type 14 [UniProt, ClinVar] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
rs386134166
CA344633
RCV000034993
131 C>R Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
CA344636
rs386134167
RCV000992817
RCV000034994
131 C>Y Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000034996
CA344640
RCV000992818
rs386134168
138 V>E Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs386134169
RCV000034998
CA344646
139 H>Q Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs386134170
CA344643
RCV000034997
150 C>F Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA9640304
RCV001128797
rs777612378
174 H>D Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA9640379
RCV001128799
rs116236420
237 E>D Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000405542
CA9640381
rs771732555
238 R>C Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV000611141
rs1471641294
RCV001724087
CA407416186
239 R>W Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
RCV001175614
rs2068685112
256 M>T Spinocerebellar ataxia type 14 [ClinVar] Yes ClinVar
dbSNP
CA344584
rs386134171
RCV000034956
360 G>S Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001288717
CA341272
rs121918517
RCV000014155
361 S>G Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs769292201
RCV001328984
404 A>T Spinocerebellar ataxia type 14 [ClinVar] Yes ClinVar
dbSNP
COSM1396176
CA9640596
rs751774653
RCV001091270
RCV001196826
461 A>V large_intestine skin haematopoietic_and_lymphoid_tissue Spinocerebellar ataxia type 14 [Cosmic, ClinVar] Yes ClinGen
cosmic curated
ClinVar
ExAC
dbSNP
gnomAD
rs387906679
CA259672
RCV000022737
480 D>Y Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000992813
CA407419855
RCV000624501
rs1461447265
569 E>G Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
rs551805527
RCV000318440
CA9640685
577 S>L Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA9640689
RCV000600767
RCV001288723
rs143513754
583 V>M Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000624917
rs368825946
CA9640712
615 R>C Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000786070
rs1303074743
CA407420249
628 P>L Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
rs1360248213
CA407420291
RCV001134435
635 P>L Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA341269
rs121918516
RCV000014154
643 F>L Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000962758
CA9640765
RCV000283144
rs73937614
687 S>G Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs78437096
CA344603
RCV000766758
RCV000516815
RCV000034972
692 V>G Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs751824637
RCV000321761
CA9640770
696 V>I Spinocerebellar ataxia type 14 [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs1555808841
RCV000014157
697 M>missing Spinocerebellar ataxia type 14 [ClinVar] Yes ClinVar
dbSNP
RCV000658854
rs1555806221
1 M>V No ClinVar
dbSNP
CA9640172
rs753746668
2 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs201929642
CA310078987
2 A>T No ClinGen
gnomAD
rs754944966
CA9640173
3 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA407411652
rs1486341509
5 G>D No ClinGen
gnomAD
CA407411680
rs1434781374
8 V>I No ClinGen
gnomAD
rs1434781374
CA407411684
8 V>L No ClinGen
gnomAD
CA407411738
rs1457859334
12 E>D No ClinGen
TOPMed
CA407411741
rs1194188447
13 G>R No ClinGen
gnomAD
rs758361947
CA9640176
14 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs758361947
CA9640177
14 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs747191875
CA9640178
16 R>G No ClinGen
ExAC
gnomAD
rs1360731511
CA407411778
16 R>Q No ClinGen
gnomAD
rs1286597703
CA407411785
17 P>S No ClinGen
gnomAD
CA310079048
rs987901154
20 C>F No ClinGen
Ensembl
rs1599937005
CA407411867
RCV000992822
23 G>E No ClinGen
ClinVar
Ensembl
dbSNP
CA310079060
rs923331350
24 A>S No ClinGen
TOPMed
gnomAD
rs763526841
CA9640183
26 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs1599937036
CA407411929
29 V>M No ClinGen
Ensembl
rs545903399
CA9640184
30 V>I No ClinGen
1000Genomes
ExAC
gnomAD
CA310079097
rs909441759
31 H>Q No ClinGen
TOPMed
CA310079100
rs949228952
33 V>I No ClinGen
Ensembl
CA407412048
rs1226455260
37 K>R No ClinGen
gnomAD
CA9640191
rs752509680
43 F>L No ClinGen
ExAC
gnomAD
CA407412167
rs1408514320
47 T>P No ClinGen
gnomAD
CA9640192
rs758426250
49 C>S No ClinGen
ExAC
gnomAD
CA407412251
rs1156534487
53 T>S No ClinGen
gnomAD
CA9640193
rs777701697
56 I>V No ClinGen
ExAC
gnomAD
RCV000415865
CA16043864
rs1057519215
58 G>D No ClinGen
ClinVar
TOPMed
dbSNP
CA407412378
rs1057519215
58 G>V No ClinGen
TOPMed
rs757275226
CA9640213
65 Q>H No ClinGen
ExAC
gnomAD
rs1392327578
CA407412581
68 V>D No ClinGen
TOPMed
rs1599938583
RCV000992814
70 S>missing No ClinVar
dbSNP
CA407412632
rs1277716410
72 V>L No ClinGen
gnomAD
RCV000713003
CA407412660
rs1568749767
74 H>R No ClinGen
ClinVar
Ensembl
dbSNP
rs929413725
CA310080013
75 R>* No ClinGen
TOPMed
rs386134160
RCV000713004
CA407412689
77 C>R No ClinGen
ClinVar
Ensembl
dbSNP
COSM1000915
CA407412712
rs1215874943
79 E>K large_intestine endometrium [Cosmic] No ClinGen
cosmic curated
gnomAD
CA407412781
rs1185290761
84 E>K No ClinGen
gnomAD
CA407413366
rs1599938680
RCV000992816
85 C>F No ClinGen
ClinVar
Ensembl
dbSNP
RCV001174598
rs2068615098
88 A>V No ClinVar
dbSNP
CA407413434
rs1158041481
90 K>N No ClinGen
TOPMed
RCV001200248
CA407413483
rs1402720098
95 D>N No ClinGen
ClinVar
dbSNP
gnomAD
CA407414077
rs1599942975
96 D>A No ClinGen
Ensembl
CA407414126
rs1599943003
103 F>S No ClinGen
Ensembl
CA407414131
rs1555806994
104 R>C No ClinGen
Ensembl
rs778658981
CA9640266
106 H>Y No ClinGen
ExAC
CA310082510
rs148207688
112 T>I No ClinGen
ESP
RCV000487805
rs1064797249
CA16621745
115 D>Y No ClinGen
ClinVar
Ensembl
dbSNP
rs1568752907
RCV000713006
CA407414247
121 L>P No ClinGen
ClinVar
Ensembl
dbSNP
RCV001288725
rs2068657289
121 L>missing No ClinVar
dbSNP
CA9640269
rs773086126
122 Y>D No ClinGen
ExAC
gnomAD
rs1218081459
CA407414268
125 V>L No ClinGen
TOPMed
rs1568752939
CA407414288
RCV000713007
128 G>R No ClinGen
ClinVar
Ensembl
dbSNP
rs760542938
CA9640270
130 K>N No ClinGen
ExAC
gnomAD
CA9640271
rs386134166
131 C>S No ClinGen
ExAC
gnomAD
rs867162725
CA310082631
133 C>* No ClinGen
gnomAD
CA407414337
rs867162725
133 C>W No ClinGen
gnomAD
RCV001288727
rs2068659442
134 C>F No ClinVar
dbSNP
CA407414360
rs1447444989
136 M>I No ClinGen
gnomAD
rs2068659547
RCV001091269
137 N>Y No ClinVar
dbSNP
rs386134168
CA9640291
138 V>A No ClinGen
ExAC
gnomAD
RCV000517141
CA407414371
rs1192424800
138 V>M No ClinGen
ClinVar
dbSNP
gnomAD
RCV000517893
rs1555807019
CA407414375
139 H>N No ClinGen
ClinVar
Ensembl
dbSNP
rs770016586
CA407414384
140 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA9640292
rs770016586
140 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1455406486
CA407414383
140 R>W No ClinGen
gnomAD
rs1172771303
CA407414400
143 V>M No ClinGen
TOPMed
rs868826262
CA310082644
147 P>S No ClinGen
Ensembl
CA407414443
rs1599943341
RCV000992819
150 C>R No ClinGen
ClinVar
Ensembl
dbSNP
CA9640296
rs375936680
151 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA407414452
rs1383224987
151 G>S No ClinGen
gnomAD
rs1304701232
CA407414485
156 E>Q No ClinGen
gnomAD
rs1231344379
CA407414494
157 R>H No ClinGen
gnomAD
CA407414505
rs1599943390
RCV000992820
159 G>E No ClinGen
ClinVar
Ensembl
dbSNP
rs866406014
RCV000490213
CA407414503
159 G>R No ClinGen
ClinVar
Ensembl
dbSNP
CA310082655
rs866406014
159 G>W No ClinGen
Ensembl
RCV000503811
CA407414512
RCV000713008
rs1555807032
160 R>L No ClinGen
ClinVar
Ensembl
dbSNP
CA407414527
rs1351526694
163 L>V No ClinGen
gnomAD
rs1246087299
CA407414534
164 E>* No ClinGen
TOPMed
gnomAD
rs1194011459
CA407414539
164 E>D No ClinGen
gnomAD
rs1246087299
CA407414532
164 E>K No ClinGen
TOPMed
gnomAD
rs1469824304
CA407414537
164 E>V No ClinGen
gnomAD
CA407414545
rs1252158483
RCV000713009
165 I>M No ClinGen
ClinVar
dbSNP
gnomAD
CA310082660
rs1037739543
165 I>S No ClinGen
TOPMed
CA310082662
rs866776958
166 R>L No ClinGen
gnomAD
CA407414548
rs866776958
166 R>Q No ClinGen
gnomAD
CA407414554
rs557782511
167 A>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9640301
rs557782511
167 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA407414562
rs1452404762
169 T>A No ClinGen
gnomAD
rs994753416
CA310082670
170 A>T No ClinGen
TOPMed
gnomAD
rs1443767012
CA407414580
172 E>K No ClinGen
gnomAD
CA310082673
rs189397138
173 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs1225328929
CA407414589
173 I>V No ClinGen
gnomAD
CA407414595
rs777612378
174 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA407414603
rs1327850541
COSM3707372
175 V>L liver [Cosmic] No ClinGen
cosmic curated
gnomAD
rs757104918
CA9640306
176 T>S No ClinGen
ExAC
gnomAD
rs1241245039
CA407414797
177 V>A No ClinGen
TOPMed
rs768891031
CA9640337
178 G>V No ClinGen
ExAC
gnomAD
rs1281980751
CA407414815
179 E>K No ClinGen
gnomAD
rs1209505101
CA407414841
181 R>C No ClinGen
gnomAD
rs1209505101
CA407414843
181 R>G No ClinGen
gnomAD
CA407414845
rs1235252410
COSM1564240
181 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA407414931
rs1188835881
188 P>A No ClinGen
gnomAD
rs3745406
CA9640338
189 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1420610335
CA407414948
189 N>S No ClinGen
gnomAD
rs773693506
CA9640339
191 L>F No ClinGen
ExAC
rs1322657222
CA407415028
195 Y>C No ClinGen
gnomAD
rs1167148835
CA407415020
195 Y>N No ClinGen
gnomAD
rs1341122223
CA407415079
199 K>R No ClinGen
TOPMed
rs1357532887
CA407415126
203 D>N No ClinGen
TOPMed
gnomAD
COSM1737663
CA310083290
rs1057247994
204 P>L central_nervous_system [Cosmic] No ClinGen
cosmic curated
Ensembl
CA9640342
rs777151978
204 P>S No ClinGen
ExAC
gnomAD
rs762399754
CA9640343
COSM2929211
205 R>Q central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA225972
RCV000084801
rs367543208
205 R>W No ClinGen
ClinVar
dbSNP
gnomAD
CA407415177
rs1432628558
207 L>R No ClinGen
gnomAD
rs763673985
CA310083298
208 T>M No ClinGen
ExAC
gnomAD
rs763673985
CA9640344
208 T>R No ClinGen
ExAC
gnomAD
rs1359818869
CA407415208
210 Q>* No ClinGen
TOPMed
CA9640346
rs373274609
210 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs750289253
CA9640349
213 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs115832790
CA9640350
RCV000713011
213 R>Q No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs754958643
CA9640352
214 T>A No ClinGen
ExAC
gnomAD
CA9640353
rs372532968
214 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1185360542
CA407415325
220 N>D No ClinGen
TOPMed
rs377341042
CA9640357
226 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9640358
rs747415891
227 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs367543209
CA225975
RCV000084802
228 V>A No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
CA9640359
rs771305921
228 V>M No ClinGen
ExAC
gnomAD
rs781604452
CA9640376
230 N>I No ClinGen
ExAC
gnomAD
rs1568754923
CA407416087
230 N>K No ClinGen
Ensembl
rs746343646
CA9640377
231 L>M No ClinGen
ExAC
gnomAD
rs1295616296
CA407416099
232 K>E No ClinGen
gnomAD
CA407416154
RCV000992823
rs1599945617
236 V>A No ClinGen
ClinVar
Ensembl
dbSNP
CA310087585
rs932630780
238 R>H No ClinGen
TOPMed
gnomAD
CA9640382
rs760409355
239 R>Q No ClinGen
ExAC
gnomAD
CA407416215
rs1161186262
241 S>R No ClinGen
gnomAD
rs1398372035
CA407416219
242 V>M No ClinGen
TOPMed
gnomAD
CA407416273
RCV000997006
rs1599945675
246 D>H No ClinGen
ClinVar
Ensembl
dbSNP
rs1307000573
CA407416309
248 D>G No ClinGen
gnomAD
rs1416084216
CA407416319
249 R>Q No ClinGen
gnomAD
CA407416317
RCV000517026
rs1180121813
249 R>W No ClinGen
ClinVar
dbSNP
gnomAD
CA407416326
rs1599945687
250 T>P No ClinGen
Ensembl
CA9640388
rs758442836
252 R>C No ClinGen
ExAC
TOPMed
gnomAD
COSM84547
CA407416356
rs764159841
252 R>H pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs764159841
CA9640389
252 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA9640391
rs757533070
254 D>E No ClinGen
ExAC
gnomAD
CA9640392
rs781514514
255 F>L No ClinGen
ExAC
gnomAD
CA9640393
rs746283322
258 A>T No ClinGen
ExAC
gnomAD
rs1568755048
CA407416448
259 M>V No ClinGen
Ensembl
rs1599945724
CA407416473
260 S>Y No ClinGen
Ensembl
CA310087609
rs997551051
263 V>I No ClinGen
gnomAD
CA310087612
rs1051433718
264 S>L No ClinGen
gnomAD
CA407416565
rs1387921740
268 K>Q No ClinGen
gnomAD
CA9640395
rs201204984
269 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA9640398
rs375466358
271 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV000992825
CA9640399
rs375466358
271 V>M No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1332750340
CA407416626
273 G>C No ClinGen
gnomAD
CA407416752
rs1208062006
275 Y>C No ClinGen
gnomAD
rs1408771379
CA407416866
283 G>S No ClinGen
TOPMed
CA9640428
rs766753334
287 N>S No ClinGen
ExAC
gnomAD
CA225987
RCV000084806
rs367543213
288 V>M No ClinGen
ClinVar
Ensembl
dbSNP
RCV000518101
rs376704133
CA407416959
289 P>L No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs376704133
CA9640429
289 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA310088067
rs867807004
289 P>S No ClinGen
Ensembl
CA407416985
rs1294543042
292 D>H No ClinGen
TOPMed
gnomAD
CA407416987
rs1294543042
292 D>N No ClinGen
TOPMed
gnomAD
rs753281804
CA9640431
293 A>T No ClinGen
ExAC
gnomAD
rs369758267
CA9640433
296 C>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs745516902
CA9640434
298 L>F No ClinGen
ExAC
gnomAD
CA9640435
rs769377000
299 L>H No ClinGen
ExAC
gnomAD
rs1286344243
CA407417081
299 L>I No ClinGen
gnomAD
rs749041380
CA9640437
300 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA407417112
rs1282635707
301 K>* No ClinGen
gnomAD
CA407417210
rs1259011347
304 A>S No ClinGen
gnomAD
CA407417222
rs1568755831
305 C>G No ClinGen
Ensembl
rs748951148
CA9640455
307 Y>C No ClinGen
ExAC
gnomAD
CA9640457
rs778748565
COSM1396172
308 P>S large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs748064443
CA9640458
309 L>V No ClinGen
ExAC
gnomAD
CA407417262
rs1391007553
310 E>D No ClinGen
gnomAD
CA9640460
rs773315203
312 Y>H No ClinGen
ExAC
gnomAD
CA9640483
rs776905536
314 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs746063136
CA9640484
315 V>L No ClinGen
ExAC
gnomAD
rs149973611
CA9640485
316 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs775882143
CA9640486
317 M>L No ClinGen
ExAC
gnomAD
CA9640487
rs775882143
317 M>V No ClinGen
ExAC
gnomAD
CA407417327
rs1159779556
319 P>R No ClinGen
gnomAD
RCV000084807
rs367543214
RCV001814973
CA225990
319 P>T No ClinGen
ClinVar
ESP
TOPMed
dbSNP
CA9640490
rs762450570
324 I>L No ClinGen
ExAC
gnomAD
rs765862905
CA9640491
324 I>N No ClinGen
ExAC
gnomAD
rs753396301
CA9640492
325 P>A No ClinGen
ExAC
gnomAD
CA310090763
rs145197557
RCV001288729
325 P>L No ClinGen
ClinVar
ESP
TOPMed
dbSNP
gnomAD
CA407417373
rs1568758455
327 P>L No ClinGen
Ensembl
rs1386023782
CA407417377
328 S>F No ClinGen
TOPMed
CA9640494
rs764834047
329 P>S No ClinGen
ExAC
gnomAD
rs866786305
CA310090769
331 P>S No ClinGen
Ensembl
CA9640495
rs752420624
332 T>A No ClinGen
ExAC
gnomAD
rs1222412936
CA407417403
333 D>N No ClinGen
gnomAD
CA407417412
rs758073710
334 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs1452362194
CA407417414
334 P>R No ClinGen
gnomAD
rs758073710
CA9640496
334 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs777632488
CA9640497
335 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA407417428
rs1245250025
336 R>L No ClinGen
gnomAD
rs1196352127
CA407417429
337 C>R No ClinGen
TOPMed
CA407417432
rs1490160311
337 C>Y No ClinGen
TOPMed
CA310090781
rs962210135
338 F>C No ClinGen
Ensembl
rs751435795
CA9640498
339 F>I No ClinGen
ExAC
TOPMed
gnomAD
rs79382266
CA310090790
340 G>W No ClinGen
gnomAD
rs1247445382
CA407417461
341 A>V No ClinGen
TOPMed
CA9640500
rs781385191
342 S>C No ClinGen
ExAC
gnomAD
CA9640501
rs745899619
342 S>N No ClinGen
ExAC
gnomAD
rs149157968
CA9640503
343 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA407417468
rs1359724204
343 P>T No ClinGen
TOPMed
rs566297370
CA9640504
345 R>L No ClinGen
1000Genomes
ExAC
gnomAD
rs566297370
CA310090802
345 R>P No ClinGen
1000Genomes
ExAC
gnomAD
CA9640505
rs768896658
346 L>P No ClinGen
ExAC
gnomAD
CA9640506
rs774838031
349 S>C No ClinGen
ExAC
gnomAD
RCV000992810
rs762206157
CA9640507
352 S>N No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs762206157
CA9640508
352 S>T No ClinGen
ExAC
gnomAD
rs1334391585
CA407417543
355 M>L No ClinGen
TOPMed
CA407417595
rs1331262028
359 K>R No ClinGen
TOPMed
RCV001268877
rs2068730966
361 S>N No ClinVar
dbSNP
CA407417616
RCV000517423
rs121918517
361 S>R No ClinGen
ClinVar
Ensembl
dbSNP
CA9640521
rs749459672
366 M>I No ClinGen
ExAC
gnomAD
rs780245480
CA9640520
366 M>V No ClinGen
ExAC
gnomAD
rs1441828760
CA407417768
368 A>T No ClinGen
gnomAD
rs1181464568
CA407417811
371 R>T No ClinGen
gnomAD
rs768973808
CA9640522
374 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs1187516612
CA407417915
383 K>Q No ClinGen
gnomAD
rs779116953
CA9640523
386 V>M No ClinGen
ExAC
gnomAD
CA407417951
rs748505394
388 V>I No ClinGen
ExAC
gnomAD
rs748505394
CA9640524
388 V>L No ClinGen
ExAC
gnomAD
rs1414999642
CA407417976
391 D>G No ClinGen
TOPMed
rs773655248
CA9640527
394 D>N No ClinGen
ExAC
gnomAD
rs773655248
CA407417995
394 D>Y No ClinGen
ExAC
gnomAD
rs1021607059
CA310091066
395 C>G No ClinGen
TOPMed
COSM1287388
rs1165667637
RCV001755769
RCV000518497
CA407418021
398 V>L autonomic_ganglia [Cosmic] No ClinGen
cosmic curated
ClinVar
TOPMed
dbSNP
CA407418020
rs1165667637
COSM1287388
398 V>L autonomic_ganglia [Cosmic] No ClinGen
cosmic curated
TOPMed
RCV001288718
rs2068734193
399 E>Q No ClinVar
dbSNP
CA407418043
rs1367827846
401 R>C No ClinGen
TOPMed
gnomAD
CA9640528
rs747522330
403 L>P No ClinGen
ExAC
gnomAD
rs769292201
CA9640529
404 A>S No ClinGen
ExAC
gnomAD
CA310091078
rs1046092381
406 G>E No ClinGen
TOPMed
rs1447405737
CA407418068
406 G>R No ClinGen
TOPMed
gnomAD
rs762479860
CA9640531
407 G>S No ClinGen
ExAC
gnomAD
CA407418076
rs1599949888
407 G>V No ClinGen
Ensembl
CA9640533
rs62637711
408 R>W No ClinGen
ExAC
gnomAD
rs1207949925
CA407418082
RCV000992811
409 G>R No ClinGen
ClinVar
dbSNP
gnomAD
rs1259210743
CA407418085
409 G>V No ClinGen
gnomAD
rs1198868288
CA407418092
410 P>L No ClinGen
TOPMed
gnomAD
CA407418105
rs1313302986
413 R>W No ClinGen
TOPMed
CA9640536
rs750379261
415 H>Y No ClinGen
ExAC
gnomAD
CA407418131
rs1174879071
417 L>F No ClinGen
gnomAD
CA310091104
rs969141483
418 T>I No ClinGen
Ensembl
CA9640537
rs756176940
421 H>R No ClinGen
ExAC
gnomAD
rs1599949945
CA407418171
423 T>P No ClinGen
Ensembl
CA407418201
rs753992324
427 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs753992324
CA9640539
427 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1382993812
CA407418199
427 P>S No ClinGen
gnomAD
CA407418225
rs1254663078
429 R>H No ClinGen
TOPMed
rs747331856
CA9640562
433 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA407418280
rs1273218014
437 V>L No ClinGen
gnomAD
CA407418291
rs1381333921
439 G>R No ClinGen
gnomAD
CA407418324
rs1396379441
443 M>I No ClinGen
gnomAD
rs1311765439
CA407418335
445 H>N No ClinGen
gnomAD
CA407418363
rs1340803242
448 Q>H No ClinGen
gnomAD
CA9640567
rs778623561
448 Q>L No ClinGen
ExAC
gnomAD
rs778623561
CA407418361
448 Q>P No ClinGen
ExAC
gnomAD
rs1250110558
CA407418380
451 K>R No ClinGen
gnomAD
rs1182737267
CA407418393
453 K>E No ClinGen
gnomAD
rs1599951443
CA407418395
453 K>T No ClinGen
Ensembl
CA407418403
rs1568760129
454 E>A No ClinGen
Ensembl
CA407418407
rs548392105
454 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA407418409
rs1442953933
455 P>A No ClinGen
TOPMed
gnomAD
CA407418408
rs1442953933
455 P>T No ClinGen
TOPMed
gnomAD
rs771892093
COSM1681343
CA9640569
456 H>R large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1442155032
CA407418415
COSM1712760
456 H>Y skin [Cosmic] No ClinGen
cosmic curated
TOPMed
CA9640570
rs773029795
458 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1472615562
CA407418453
460 Y>H No ClinGen
gnomAD
CA9640595
COSM1000933
rs749266717
461 A>T endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA310092176
rs756533117
465 A>S No ClinGen
ExAC
gnomAD
CA9640600
rs756533117
465 A>T No ClinGen
ExAC
gnomAD
CA407418493
rs1266612029
466 I>T No ClinGen
gnomAD
rs1172209951
CA407418500
467 G>A No ClinGen
TOPMed
rs1044351933
CA310092181
467 G>S No ClinGen
gnomAD
rs1398783758
CA407418505
468 L>P No ClinGen
gnomAD
rs1350175702
CA407418512
469 F>S No ClinGen
gnomAD
rs756534989
CA310092215
477 I>V No ClinGen
gnomAD
rs1252277952
CA407418636
485 N>S No ClinGen
TOPMed
CA407418640
rs1436023041
486 V>M No ClinGen
gnomAD
rs891317967
CA310092319
490 A>T No ClinGen
Ensembl
CA9640623
rs756810096
491 E>K No ClinGen
ExAC
gnomAD
CA407418783
rs780647467
COSM1646960
505 N>K lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA9640626
rs745537039
506 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs755896158
CA407418804
507 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1265866750
CA407418800
507 F>S No ClinGen
gnomAD
CA310092391
rs865820315
509 G>E No ClinGen
Ensembl
CA310092387
rs964697337
509 G>R No ClinGen
gnomAD
rs964697337
CA407418822
509 G>R No ClinGen
gnomAD
CA9640628
rs749199519
510 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA9640630
rs774376490
511 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA407418853
rs1336500466
512 T>A No ClinGen
gnomAD
CA9640631
rs748128173
513 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1452419424
CA407418869
513 R>H No ClinGen
TOPMed
gnomAD
rs2068757477
RCV001288721
518 T>I No ClinVar
dbSNP
rs1462968827
CA407418945
519 P>L No ClinGen
TOPMed
CA407418974
rs1202130595
521 Y>C No ClinGen
gnomAD
CA407419548
rs1307567632
527 I>V No ClinGen
gnomAD
CA9640657
rs763570173
528 A>V No ClinGen
ExAC
gnomAD
CA310093958
rs891427415
529 Y>H No ClinGen
TOPMed
rs749975147
CA9640659
531 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA9640660
rs760208247
536 V>I No ClinGen
ExAC
gnomAD
CA9640661
rs753502785
541 F>C No ClinGen
ExAC
gnomAD
CA407419740
rs1195527322
553 P>S No ClinGen
TOPMed
gnomAD
CA407419745
rs1342866443
554 P>S No ClinGen
gnomAD
CA407419763
rs1599954407
RCV000992812
556 D>E No ClinGen
ClinVar
Ensembl
dbSNP
rs769165690
CA310094936
556 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs769165690
CA9640680
556 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs763956622
CA407419784
559 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA9640682
rs760120162
560 E>G No ClinGen
ExAC
gnomAD
CA407419787
rs1384915664
560 E>Q No ClinGen
gnomAD
CA407419806
rs1172639116
562 E>G No ClinGen
gnomAD
rs1419736241
CA407419870
571 T>A No ClinGen
TOPMed
rs1453157990
CA407419886
573 T>I No ClinGen
TOPMed
gnomAD
CA310094951
rs79609076
576 K>N No ClinGen
TOPMed
rs1599954478
CA407419920
579 S>P No ClinGen
Ensembl
rs41275818
RCV001091271
CA9640688
580 R>Q No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV001288722
COSM1318260
rs149266855
CA9640687
580 R>W haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1053831444
CA310094963
582 A>S No ClinGen
TOPMed
CA407419968
rs1242697294
587 K>E No ClinGen
gnomAD
CA407419977
rs1568762863
588 G>E No ClinGen
Ensembl
CA9640691
rs781476930
588 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1341360593
CA407419993
589 F>L No ClinGen
TOPMed
rs1344294925
CA407420006
591 T>A No ClinGen
gnomAD
rs1568764306
CA407420050
597 R>H No ClinGen
Ensembl
rs1447790637
CA407420070
601 G>R No ClinGen
TOPMed
rs1336523588
CA407420076
602 P>S No ClinGen
TOPMed
CA310095881
rs202029274
603 D>G No ClinGen
1000Genomes
TOPMed
gnomAD
CA9640708
rs138962503
605 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9640709
rs757306588
607 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA310095889
rs1031815043
608 I>V No ClinGen
Ensembl
CA310095891
rs1025622193
609 R>C No ClinGen
TOPMed
CA407420121
rs1188281451
609 R>H No ClinGen
gnomAD
CA407420132
rs1490480074
611 H>Y No ClinGen
gnomAD
rs866037592
CA310095894
612 G>D No ClinGen
Ensembl
rs1198556294
CA407420138
612 G>S No ClinGen
gnomAD
CA407420160
rs368825946
615 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780263973
CA9640713
615 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA407420161
rs780263973
615 R>L No ClinGen
ExAC
TOPMed
gnomAD
RCV000499835
CA407420196
rs1177582167
620 E>K No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
rs367543218
CA407420206
621 R>P No ClinGen
TOPMed
rs367543218
CA226002
RCV000084811
621 R>Q No ClinGen
ClinVar
TOPMed
dbSNP
CA9640715
rs755332117
623 E>G No ClinGen
ExAC
gnomAD
rs1365634675
CA407420221
624 R>* No ClinGen
gnomAD
CA310095959
rs146367309
624 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
RCV000937814
RCV001288724
rs146367309
CA9640716
624 R>Q No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs545521865
CA310095961
627 I>S No ClinGen
Ensembl
rs1380883447
CA407420246
628 P>S No ClinGen
TOPMed
CA407420253
rs1348706772
629 P>L No ClinGen
gnomAD
CA310095970
rs1023224300
632 R>S No ClinGen
Ensembl
CA9640717
rs748632675
632 R>T No ClinGen
ExAC
gnomAD
rs980400591
CA310095988
634 R>C No ClinGen
Ensembl
CA407420283
rs1238280713
634 R>H No ClinGen
TOPMed
gnomAD
rs1238280713
CA407420285
634 R>L No ClinGen
TOPMed
gnomAD
rs1360248213
CA407420290
635 P>R No ClinGen
TOPMed
gnomAD
rs1407058714
CA407420320
638 R>C No ClinGen
TOPMed
gnomAD
rs768380642
CA9640741
638 R>H No ClinGen
ExAC
gnomAD
CA407420331
rs1332498109
640 G>S No ClinGen
gnomAD
CA310096151
rs386134172
643 F>S No ClinGen
Ensembl
rs774167982
CA9640742
645 K>T No ClinGen
ExAC
gnomAD
rs1231756180
CA407420394
648 T>R No ClinGen
TOPMed
rs1350675060
CA407420398
649 R>Q No ClinGen
TOPMed
RCV000084813
rs367543220
CA226008
650 A>S No ClinGen
ClinVar
dbSNP
gnomAD
rs1599956863
CA407420404
COSM1396180
650 A>V large_intestine [Cosmic] No ClinGen
cosmic curated
Ensembl
CA9640744
rs200755592
651 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs773196309
CA9640745
653 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA9640746
rs760587847
653 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1599956911
CA407420426
655 T>P No ClinGen
Ensembl
CA310096187
rs971756470
659 R>H No ClinGen
gnomAD
CA9640751
rs752933837
VAR_008758
659 R>S No ClinGen
UniProt
ExAC
TOPMed
dbSNP
gnomAD
CA9640752
rs758699586
660 L>V No ClinGen
ExAC
gnomAD
CA407420461
rs1201979210
661 V>L No ClinGen
gnomAD
CA407420469
RCV000517660
rs1555808814
662 L>P No ClinGen
ClinVar
Ensembl
dbSNP
rs778052415
CA9640753
664 S>I No ClinGen
ExAC
gnomAD
rs1467585543
CA407420496
666 D>E No ClinGen
TOPMed
rs373369366
CA9640755
666 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1401300094
CA407420501
667 Q>P No ClinGen
gnomAD
RCV002221549
rs1375924761
RCV000518722
669 D>missing No ClinVar
dbSNP
rs1167417075
CA407420516
669 D>G No ClinGen
TOPMed
CA9640757
rs748770167
669 D>H No ClinGen
ExAC
gnomAD
rs768288302
CA9640758
672 G>D No ClinGen
ExAC
gnomAD
CA9640759
rs778652037
678 P>A No ClinGen
ExAC
gnomAD
rs1344606686
CA407420588
679 D>E No ClinGen
gnomAD
rs1599956992
CA407420583
679 D>Y No ClinGen
Ensembl
CA407420592
rs1230884397
680 F>Y No ClinGen
gnomAD
CA407420606
rs1599957015
682 H>P No ClinGen
Ensembl
rs376516192
CA310096204
684 D>N No ClinGen
ESP
TOPMed
rs770722155
CA9640764
686 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA407420630
rs770722155
686 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs765311269
CA9640767
689 T>P No ClinGen
ExAC
rs78437096
CA9640768
692 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs78437096
CA407420670
692 V>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9640769
rs764500243
694 V>A No ClinGen
ExAC
gnomAD
rs1281590143
CA407420691
696 V>A No ClinGen
TOPMed
CA407420702
rs1158020271
698 M>Q No ClinGen
gnomAD

No associated diseases with P05129

4 regional properties for P05129

Type Name Position InterPro Accession
domain CRIB domain 239 - 296 IPR000095
domain WH1/EVH1 domain 38 - 150 IPR000697
domain WH2 domain 445 - 469 IPR003124
domain WASP family, EVH1 domain 47 - 147 IPR033927

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Cytoplasm, perinuclear region
  • Cell membrane ; Peripheral membrane protein
  • Synapse, synaptosome
  • Cell projection, dendrite
  • Translocates to synaptic membranes on stimulation
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

11 GO annotations of cellular component

Name Definition
calyx of Held The terminal specialization of a calyciferous axon which forms large synapses in the mammalian auditory central nervous system.
cell-cell junction A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
dendrite A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
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.
postsynaptic cytosol The region of the cytosol consisting of all cytosol that is part of the postsynapse.
postsynaptic density An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components.
presynaptic cytosol The region of the cytosol consisting of all cytosol that is part of the presynapse.
synaptic membrane A specialized area of membrane on either the presynaptic or the postsynaptic side of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell.

8 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.
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).

25 GO annotations of biological process

Name Definition
chemical synaptic transmission The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse.
chemosensory behavior Behavior that is dependent upon the sensation of chemicals.
innervation The process in which a nerve invades a tissue and makes functional synaptic connection within the tissue.
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.
learning or memory The acquisition and processing of information and/or the storage and retrieval of this information over time.
long-term synaptic potentiation A process that modulates synaptic plasticity such that synapses are changed resulting in the increase in the rate, or frequency of synaptic transmission at the synapse.
negative regulation of neuron apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process in neurons.
negative regulation of proteasomal protein catabolic process Any process that stops, prevents or reduces the frequency, rate or extent of proteasomal protein catabolic process.
negative regulation of protein catabolic process Any process that stops, prevents or reduces the frequency, rate or extent of protein catabolic process.
negative regulation of protein ubiquitination Any process that stops, prevents, or reduces the frequency, rate or extent of the addition of ubiquitin groups to a protein.
peptidyl-serine phosphorylation The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine.
phosphorylation The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.
positive regulation of mismatch repair Any process that activates or increases the frequency, rate or extent of mismatch repair.
presynaptic modulation of chemical synaptic transmission Any process, acting in the presynapse that results in modulation of chemical synaptic transmission.
protein autophosphorylation The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation).
protein phosphorylation The process of introducing a phosphate group on to a protein.
regulation of circadian rhythm Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours.
regulation of phagocytosis Any process that modulates the frequency, rate or extent of phagocytosis, the process in which phagocytes engulf external particulate material.
regulation of response to food Any process that modulates the frequency, rate or extent of a response to a food stimulus.
regulation of synaptic vesicle exocytosis Any process that modulates the frequency, rate or extent of synaptic vesicle exocytosis.
response to morphine 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 a morphine stimulus. Morphine is an opioid alkaloid, isolated from opium, with a complex ring structure.
response to pain 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 a pain stimulus. Pain stimuli cause activation of nociceptors, peripheral receptors for pain, include receptors which are sensitive to painful mechanical stimuli, extreme heat or cold, and chemical stimuli.
response to psychosocial stress 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 exposure to aversive or demanding psychological and social conditions that tax or exceed the behavioral resources of the organism.
response to toxic substance 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 a toxic stimulus.
rhythmic process Any process pertinent to the generation and maintenance of rhythms in the physiology of an organism.

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
P04409 PRKCA Protein kinase C alpha type Bos taurus (Bovine) EV SS
P05126 PRKCB Protein kinase C beta type Bos taurus (Bovine) SS
P05128 PRKCG Protein kinase C gamma type Bos taurus (Bovine) 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
P17252 PRKCA Protein kinase C alpha type Homo sapiens (Human) EV
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
P20444 Prkca Protein kinase C alpha type Mus musculus (Mouse) SS
P68404 Prkcb Protein kinase C beta type Mus musculus (Mouse) SS
P63318 Prkcg Protein kinase C gamma 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
P05696 Prkca Protein kinase C alpha type Rattus norvegicus (Rat) SS
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
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
MAGLGPGVGD SEGGPRPLFC RKGALRQKVV HEVKSHKFTA RFFKQPTFCS HCTDFIWGIG
70 80 90 100 110 120
KQGLQCQVCS FVVHRRCHEF VTFECPGAGK GPQTDDPRNK HKFRLHSYSS PTFCDHCGSL
130 140 150 160 170 180
LYGLVHQGMK CSCCEMNVHR RCVRSVPSLC GVDHTERRGR LQLEIRAPTA DEIHVTVGEA
190 200 210 220 230 240
RNLIPMDPNG LSDPYVKLKL IPDPRNLTKQ KTRTVKATLN PVWNETFVFN LKPGDVERRL
250 260 270 280 290 300
SVEVWDWDRT SRNDFMGAMS FGVSELLKAP VDGWYKLLNQ EEGEYYNVPV ADADNCSLLQ
310 320 330 340 350 360
KFEACNYPLE LYERVRMGPS SSPIPSPSPS PTDPKRCFFG ASPGRLHISD FSFLMVLGKG
370 380 390 400 410 420
SFGKVMLAER RGSDELYAIK ILKKDVIVQD DDVDCTLVEK RVLALGGRGP GGRPHFLTQL
430 440 450 460 470 480
HSTFQTPDRL YFVMEYVTGG DLMYHIQQLG KFKEPHAAFY AAEIAIGLFF LHNQGIIYRD
490 500 510 520 530 540
LKLDNVMLDA EGHIKITDFG MCKENVFPGT TTRTFCGTPD YIAPEIIAYQ PYGKSVDWWS
550 560 570 580 590 600
FGVLLYEMLA GQPPFDGEDE EELFQAIMEQ TVTYPKSLSR EAVAICKGFL TKHPGKRLGS
610 620 630 640 650 660
GPDGEPTIRA HGFFRWIDWE RLERLEIPPP FRPRPCGRSG ENFDKFFTRA APALTPPDRL
670 680 690
VLASIDQADF QGFTYVNPDF VHPDARSPTS PVPVPVM