Descriptions

Calcium/calmodulin-dependent protein kinase type 1 (CAMK1) regulates transcription activators activity, cell cycle, hormone production, cell differentiation, actin filament organization and neurite outgrowth. The autoinhibitory region contains two helical structures (αR1 and αR2) and includes a pseudosubstrate sequence within it. The αR2 helix is at the N-terminal of CaM-binding domain. The αR1 interacts with the catalytic core and αR2 interacts with the ATP-binding region of CAMK1 for autoinhibition.

Autoinhibitory domains (AIDs)

Target domain

20-276 (Protein kinase domain)

Relief mechanism

Ligand binding

Assay

Structural analysis

Target domain

20-276 (Protein kinase domain)

Relief mechanism

Ligand binding

Assay

Structural analysis

Accessory elements

161-183 (Activation loop from InterPro)

Target domain

20-276 (Protein kinase domain)

Relief mechanism

Assay

Autoinhibited structure

Activated structure

5 structures for Q14012

Entry ID Method Resolution Chain Position Source
4FG7 X-ray 270 A A 1-293 PDB
4FG8 X-ray 220 A A/B 1-315 PDB
4FG9 X-ray 240 A A/B 1-320 PDB
4FGB X-ray 260 A A 1-320 PDB
AF-Q14012-F1 Predicted AlphaFoldDB

285 variants for Q14012

Variant ID(s) Position Change Description Diseaes Association Provenance
CA2243419
rs113139851
3 G>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA351735454
rs1481715197
3 G>R No ClinGen
TOPMed
gnomAD
CA351735452
rs1481715197
3 G>R No ClinGen
TOPMed
gnomAD
CA351735444
rs113139851
3 G>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1199233790
CA351735441
4 A>P No ClinGen
gnomAD
rs561655780
CA2243418
5 V>L No ClinGen
1000Genomes
ExAC
gnomAD
rs201983776
CA2243417
6 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA351735378
rs1575265855
7 G>C No ClinGen
Ensembl
CA351735353
rs1162704077
7 G>V No ClinGen
TOPMed
rs752676650
CA2243416
9 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA2243415
rs767265769
10 W>R No ClinGen
ExAC
gnomAD
rs920145784
CA69990756
13 A>E No ClinGen
TOPMed
gnomAD
rs920145784
CA351735228
13 A>G No ClinGen
TOPMed
gnomAD
rs751388407
CA2243413
13 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA351735238
rs920145784
13 A>V No ClinGen
TOPMed
gnomAD
CA2243410
rs772591110
15 D>A No ClinGen
ExAC
gnomAD
rs377569441
CA2243411
15 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2243408
rs761233875
16 I>M No ClinGen
ExAC
rs1253410238
CA351735146
18 D>N No ClinGen
Ensembl
CA2243407
rs372987743
19 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA69990745
rs1051580403
19 I>N No ClinGen
TOPMed
CA351735049
rs1407548505
21 D>E No ClinGen
gnomAD
CA2243403
rs779343393
21 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1413223424
CA351735038
22 F>Y No ClinGen
gnomAD
rs771056998
CA2243401
23 R>* No ClinGen
ExAC
gnomAD
rs771056998
CA351735014
23 R>G No ClinGen
ExAC
gnomAD
COSM1049199
rs749586067
CA2243400
23 R>Q endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs190639418
CA2243398
28 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1236572797
CA351734870
28 T>P No ClinGen
gnomAD
CA351732606
rs763370367
29 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1044606365
CA69990093
29 G>V No ClinGen
TOPMed
rs763370367
CA2243343
29 G>W No ClinGen
ExAC
TOPMed
gnomAD
CA2243340
rs762000589
30 A>D No ClinGen
ExAC
rs765645330
CA351732576
30 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs765645330
CA2243341
30 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs765645330
CA2243342
30 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs776877972
CA2243338
32 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs893317804
CA69990077
35 I>T No ClinGen
TOPMed
CA351732454
rs1444700418
35 I>V No ClinGen
gnomAD
CA2243336
rs760751220
37 A>E No ClinGen
ExAC
gnomAD
rs1280457657
CA351732394
37 A>T No ClinGen
TOPMed
rs772044654
CA351732284
39 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs775439790
CA2243335
39 D>G No ClinGen
ExAC
gnomAD
rs1396548123
CA351732308
39 D>Y No ClinGen
gnomAD
CA351732275
rs1455143563
40 K>R No ClinGen
gnomAD
rs745862612
CA2243333
41 R>T No ClinGen
ExAC
gnomAD
CA351732195
rs1157644866
42 T>M No ClinGen
gnomAD
rs770894597
CA2243331
43 Q>* No ClinGen
ExAC
gnomAD
CA351732157
rs1435261400
43 Q>L No ClinGen
TOPMed
gnomAD
rs1442415037
CA351732097
45 L>V No ClinGen
gnomAD
rs1254668135
CA351732023
47 A>T No ClinGen
gnomAD
CA2243329
rs777431790
55 A>T No ClinGen
ExAC
gnomAD
CA351731707
rs1238271621
57 E>K No ClinGen
gnomAD
CA351731704
rs1238271621
57 E>Q No ClinGen
gnomAD
CA351731632
rs1361784414
60 E>A No ClinGen
gnomAD
CA69990048
rs77335822
61 G>S No ClinGen
Ensembl
CA351731599
rs1315829208
61 G>V No ClinGen
gnomAD
rs755731269
CA2243327
63 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA351731572
rs1575258232
63 M>V No ClinGen
Ensembl
CA2243326
rs750387531
69 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1575258163
CA351731390
70 L>R No ClinGen
Ensembl
rs898173600
CA69984757
72 K>N No ClinGen
TOPMed
rs1297302721
CA351731363
72 K>Q No ClinGen
gnomAD
CA2243303
rs779335679
74 K>Q No ClinGen
ExAC
gnomAD
CA2243301
rs754227326
76 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs757766232
CA351729545
76 P>S No ClinGen
ExAC
gnomAD
CA2243302
rs757766232
76 P>T No ClinGen
ExAC
gnomAD
CA2243299
rs760931282
78 I>L No ClinGen
ExAC
gnomAD
CA2243298
rs752906254
78 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1267006800
CA351729439
80 A>D No ClinGen
gnomAD
CA351729443
rs1196390343
80 A>S No ClinGen
gnomAD
CA2243295
rs149094214
82 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759644397
CA2243296
82 D>N No ClinGen
ExAC
gnomAD
CA351729290
rs1347191149
84 I>V No ClinGen
gnomAD
rs745723089
CA69984658
85 Y>* No ClinGen
Ensembl
CA2243294
rs138483154
85 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200398091
CA69984644
86 E>* No ClinGen
TOPMed
gnomAD
CA351729197
rs1330382466
86 E>D No ClinGen
TOPMed
gnomAD
rs200398091
CA351729213
86 E>K No ClinGen
TOPMed
gnomAD
CA2243293
rs375556446
91 L>R No ClinGen
ESP
ExAC
gnomAD
CA2243292
rs773044708
92 Y>* No ClinGen
ExAC
gnomAD
rs1471219827
CA351728987
93 L>I No ClinGen
gnomAD
CA2243291
rs769524135
96 Q>R No ClinGen
ExAC
gnomAD
CA2243275
rs762960705
99 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA2243271
rs776489826
105 D>N No ClinGen
ExAC
gnomAD
rs768294099
CA2243270
106 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs746723292
CA2243269
COSM274370
106 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA351728334
rs1553704331
107 I>M No ClinGen
Ensembl
rs1247530400
CA351728232
110 K>E No ClinGen
TOPMed
gnomAD
rs151133089
CA2243268
110 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA351728135
rs1284090262
111 G>A No ClinGen
gnomAD
CA351728137
rs1284090262
111 G>V No ClinGen
gnomAD
CA351728016
rs1369335655
COSM1199462
114 T>M large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
rs756662184
CA2243264
116 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs143182946
CA2243265
116 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA351727890
rs1575241877
117 D>A No ClinGen
Ensembl
CA351727865
rs755234937
118 A>P No ClinGen
ExAC
gnomAD
CA2243260
rs755234937
118 A>T No ClinGen
ExAC
gnomAD
rs751877547
CA351727848
119 S>N No ClinGen
ExAC
gnomAD
CA2243259
rs751877547
119 S>T No ClinGen
ExAC
gnomAD
rs766533357
CA69984421
120 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs766533357
CA2243258
120 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA2243257
rs758368101
120 R>H No ClinGen
ExAC
gnomAD
rs758368101
CA351727823
120 R>L No ClinGen
ExAC
gnomAD
CA69984410
rs1046615731
125 V>M No ClinGen
TOPMed
rs186994904
CA2243255
128 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA2243254
rs761876706
129 V>A No ClinGen
ExAC
gnomAD
rs1223178911
CA351727577
131 Y>* No ClinGen
gnomAD
CA351727526
rs1311320342
134 D>E No ClinGen
gnomAD
rs1346883303
CA351727539
134 D>N No ClinGen
TOPMed
CA2243251
rs780833552
136 G>S No ClinGen
ExAC
gnomAD
CA2243250
rs760291986
137 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs1399767855
CA351727465
137 I>T No ClinGen
gnomAD
rs372278723
CA2243248
140 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2243249
rs775086900
140 R>W No ClinGen
ExAC
gnomAD
CA69984390
rs895334039
143 K>E No ClinGen
TOPMed
CA351727092
rs1433477390
144 P>T No ClinGen
gnomAD
CA351727019
rs1266214282
COSM176914
145 E>D large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1553703907
CA351726979
147 L>M No ClinGen
Ensembl
CA351726913
rs1188999675
148 L>P No ClinGen
gnomAD
CA351726798
rs1184545354
151 S>G No ClinGen
TOPMed
gnomAD
rs764052828
CA2243232
151 S>N No ClinGen
ExAC
gnomAD
rs959800434
CA69983269
153 D>G No ClinGen
Ensembl
CA69983273
rs1012649189
153 D>N No ClinGen
gnomAD
rs1258139322
CA351726648
155 D>G No ClinGen
gnomAD
CA2243231
rs760416645
155 D>N No ClinGen
ExAC
gnomAD
CA351726544
rs1299441598
159 M>I No ClinGen
gnomAD
CA2243229
rs767015539
159 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA351726502
rs1194121365
160 I>T No ClinGen
gnomAD
CA351726536
rs1251121659
160 I>V No ClinGen
TOPMed
gnomAD
CA2243228
rs559224420
161 S>F No ClinGen
1000Genomes
ExAC
gnomAD
rs925718348
CA69983241
162 D>N No ClinGen
TOPMed
rs1330688535
CA351726387
163 F>S No ClinGen
gnomAD
rs762376373
CA2243225
165 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs769307935
CA2243223
168 M>I No ClinGen
ExAC
gnomAD
rs777236576
CA2243224
168 M>T No ClinGen
ExAC
gnomAD
rs1379128941
CA351726280
168 M>V No ClinGen
TOPMed
CA351726228
rs1575234640
170 D>A No ClinGen
Ensembl
rs1575234625
CA351726216
170 D>E No ClinGen
Ensembl
CA2243222
rs747319122
170 D>H No ClinGen
ExAC
gnomAD
CA2243221
rs780569645
171 P>L No ClinGen
ExAC
gnomAD
CA351726187
rs780569645
171 P>Q No ClinGen
ExAC
gnomAD
CA351726201
rs1256503204
171 P>S No ClinGen
gnomAD
rs945677826
CA69983182
174 V>M No ClinGen
TOPMed
CA351726019
rs1375061939
175 L>P No ClinGen
TOPMed
CA69983151
rs902884716
178 A>G No ClinGen
gnomAD
CA2243214
rs540971111
178 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1207464278
CA351725909
179 C>Y No ClinGen
TOPMed
CA2243213
rs756053756
181 T>I No ClinGen
ExAC
gnomAD
rs752480324
COSM1425804
CA2243212
182 P>L large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA351725811
rs767399471
183 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA351725820
rs1254882423
183 G>R No ClinGen
TOPMed
CA2243211
rs767399471
183 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA351725793
rs1238040684
185 V>M No ClinGen
gnomAD
rs764888044
CA2243187
188 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs761231706
CA2243186
189 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs776024002
CA2243185
190 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs1458004817
CA351725659
191 A>T No ClinGen
gnomAD
CA2243184
rs148571810
199 V>M No ClinGen
ESP
ExAC
gnomAD
CA2243183
rs759883777
200 D>G No ClinGen
ExAC
gnomAD
rs1559697631
CA351725450
202 W>R No ClinGen
Ensembl
CA2243181
rs771134172
204 I>T No ClinGen
ExAC
rs774580814
CA2243182
204 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1489620785
CA351725402
205 G>S No ClinGen
TOPMed
CA2243180
rs749573419
206 V>I No ClinGen
ExAC
gnomAD
rs56203420
CA2243179
207 I>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1318379866
CA351725376
207 I>V No ClinGen
gnomAD
CA2243177
rs748209976
208 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA351725337
rs1323708723
209 Y>N No ClinGen
gnomAD
CA351725302
rs1465543720
210 I>M No ClinGen
TOPMed
CA351725292
rs1487340864
211 L>S No ClinGen
Ensembl
CA2243148
rs756971878
212 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA2243147
rs753380998
213 C>S No ClinGen
ExAC
gnomAD
rs1310899787
CA351724149
214 G>D No ClinGen
gnomAD
CA2243145
COSM1049185
rs755492997
214 G>S endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1376877334
CA351724111
215 Y>S No ClinGen
gnomAD
COSM21043
rs907102077
VAR_040596
CA69981967
217 P>S a metastatic melanoma sample; somatic mutation skin [UniProt, Cosmic] No ClinGen
cosmic curated
UniProt
Ensembl
dbSNP
CA2243142
rs147073343
219 Y>N No ClinGen
ESP
ExAC
gnomAD
rs765378672
CA2243141
220 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA69981884
rs1041670618
221 E>D No ClinGen
Ensembl
CA2243139
rs762008030
221 E>K No ClinGen
ExAC
gnomAD
rs1362673400
CA351723816
223 D>H No ClinGen
gnomAD
CA351723727
rs1452502107
225 K>E No ClinGen
gnomAD
CA351723706
rs1158181348
225 K>R No ClinGen
TOPMed
rs1559696529
CA351723670
226 L>F No ClinGen
Ensembl
CA2243138
rs768657576
227 F>S No ClinGen
ExAC
gnomAD
CA2243137
rs768657576
227 F>Y No ClinGen
ExAC
gnomAD
rs760839181
CA2243136
228 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA2243133
rs747165508
234 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA351723297
rs1237842964
234 E>V No ClinGen
gnomAD
rs770601593
CA2243131
236 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs748937664
CA2243130
238 D>N No ClinGen
ExAC
gnomAD
CA351723023
rs1374274683
242 W>* No ClinGen
TOPMed
rs777310726
CA2243129
243 D>N No ClinGen
ExAC
gnomAD
CA2243127
rs747682193
244 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA2243125
rs531632583
245 I>M No ClinGen
1000Genomes
ExAC
gnomAD
rs1342653111
CA351722854
247 D>E No ClinGen
gnomAD
CA2243123
rs750784176
248 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA351722645
rs1559695195
249 A>V No ClinGen
Ensembl
rs1393959902
CA351722637
250 K>R No ClinGen
gnomAD
rs1559695168
CA351722620
251 D>H No ClinGen
Ensembl
CA2243074
rs139097636
254 R>L No ClinGen
ESP
ExAC
TOPMed
rs139097636
CA351722516
254 R>P No ClinGen
ESP
ExAC
TOPMed
rs139097636
CA2243075
254 R>Q No ClinGen
ESP
ExAC
TOPMed
CA2243076
rs372591129
254 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1442149355
CA351722483
255 H>P No ClinGen
gnomAD
CA351722318
rs1357998594
261 P>S No ClinGen
gnomAD
rs1479881974
CA351722294
262 E>K No ClinGen
gnomAD
CA2243072
rs200157460
265 F>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1447078012
CA351722112
270 A>T No ClinGen
TOPMed
rs199997024
CA2243069
271 L>S No ClinGen
ExAC
gnomAD
CA2243067
rs560292298
272 Q>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs560292298
CA2243068
272 Q>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA351722045
rs1301431550
272 Q>P No ClinGen
TOPMed
gnomAD
CA2243066
rs370718078
273 H>Y No ClinGen
ESP
ExAC
gnomAD
rs148790679
CA2243065
274 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs771650402
CA2243045
276 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1385072049
CA351721877
277 A>E No ClinGen
TOPMed
gnomAD
rs372987286
CA2243044
277 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1267718385
CA351721838
280 T>I No ClinGen
gnomAD
CA351721821
rs1157416401
283 D>A No ClinGen
TOPMed
gnomAD
CA351721820
rs1157416401
283 D>G No ClinGen
TOPMed
gnomAD
CA2243043
rs773723897
284 K>R No ClinGen
ExAC
gnomAD
CA2243042
rs770441132
286 I>M No ClinGen
ExAC
gnomAD
CA351721776
rs1475100852
288 Q>H No ClinGen
TOPMed
gnomAD
CA69980283
rs776833307
289 S>L No ClinGen
gnomAD
CA69980259
rs913984992
291 S>C No ClinGen
TOPMed
gnomAD
CA2243038
rs747307663
292 E>K No ClinGen
ExAC
gnomAD
rs758465129
CA2243036
293 Q>H No ClinGen
ExAC
gnomAD
rs757250734
CA2243032
299 A>V No ClinGen
ExAC
gnomAD
rs1306048914
CA351721592
301 S>T No ClinGen
TOPMed
CA69980199
rs994677617
303 W>C No ClinGen
TOPMed
CA2243031
rs377182467
303 W>R No ClinGen
ESP
ExAC
gnomAD
rs763922235
CA2243030
304 K>N No ClinGen
ExAC
gnomAD
CA2242979
rs753082810
306 A>G No ClinGen
ExAC
gnomAD
rs1215876523
CA351719935
308 N>S No ClinGen
gnomAD
rs1473298800
CA351719917
309 A>D No ClinGen
gnomAD
rs767810914
CA2242978
310 T>M No ClinGen
ExAC
gnomAD
rs774504130
CA2242976
312 V>L No ClinGen
ExAC
gnomAD
rs762951024
CA2242974
313 V>E No ClinGen
ExAC
gnomAD
CA351719844
rs1559692493
313 V>L No ClinGen
Ensembl
rs200156536
CA2242972
314 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA2242973
rs773234633
314 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA2242970
rs781010077
316 M>I No ClinGen
ExAC
gnomAD
rs748089150
CA2242971
316 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1462888983
CA351719719
321 L>M No ClinGen
gnomAD
rs746824562
CA2242968
322 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1575214646
CA351719698
323 T>N No ClinGen
Ensembl
CA2242967
rs779796350
326 E>K No ClinGen
ExAC
gnomAD
rs953847648
CA69978345
326 E>V No ClinGen
TOPMed
rs758189766
CA2242966
327 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA351719610
rs1186644757
330 Q>K No ClinGen
gnomAD
CA2242965
rs749937650
331 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs536063601
CA2242962
332 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1437806689
CA351719576
332 A>T No ClinGen
gnomAD
rs536063601
CA2242963
332 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1559692246
CA351719560
333 S>T No ClinGen
Ensembl
CA2242959
rs201838059
334 H>P No ClinGen
1000Genomes
ExAC
gnomAD
CA2242958
rs766586927
335 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1214164611
CA351719494
338 L>V No ClinGen
gnomAD
CA2242956
rs773323612
341 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs1239614122
CA351719444
342 A>S No ClinGen
TOPMed
rs1482988022
CA351719309
344 G>E No ClinGen
TOPMed
CA2242925
rs777325548
345 P>A No ClinGen
ExAC
gnomAD
rs747559252
CA2242923
345 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA2242924
rs747559252
345 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1231674345
CA351719204
349 C>Y No ClinGen
gnomAD
CA2242922
rs200760015
352 R>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs545247601
CA2242921
352 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1307498314
CA351719041
354 C>Y No ClinGen
gnomAD
rs578157926
CA2242919
356 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2242918
rs757567412
358 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA2242915
rs760869166
360 T>A No ClinGen
ExAC
gnomAD
rs752632116
CA2242914
360 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA2242913
rs56033923
VAR_040597
361 E>K No ClinGen
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA351718784
rs1158899575
362 L>P No ClinGen
gnomAD
rs1158899575
CA351718781
362 L>R No ClinGen
gnomAD
rs774266419
CA2242910
365 T>K No ClinGen
ExAC
gnomAD
rs935195361
CA351718728
366 L>M No ClinGen
gnomAD
rs1575213144
CA351718708
367 P>L No ClinGen
Ensembl
rs772680696
CA2242907
367 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1486837209
CA351718702
368 H>Y No ClinGen
gnomAD
CA2242905
rs541448857
369 Q>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs769257385
CA2242906
369 Q>R No ClinGen
ExAC
gnomAD
rs1299525314
CA351718648
370 L>F No ClinGen
TOPMed

No associated diseases with Q14012

9 regional properties for Q14012

Type Name Position InterPro Accession
domain Protein kinase domain 25 - 283 IPR000719
domain EF-hand domain 326 - 397 IPR002048-1
domain EF-hand domain 398 - 467 IPR002048-2
active_site Serine/threonine-protein kinase, active site 145 - 157 IPR008271
binding_site Protein kinase, ATP binding site 31 - 54 IPR017441
binding_site EF-Hand 1, calcium-binding site 339 - 351 IPR018247-1
binding_site EF-Hand 1, calcium-binding site 375 - 387 IPR018247-2
binding_site EF-Hand 1, calcium-binding site 411 - 423 IPR018247-3
binding_site EF-Hand 1, calcium-binding site 445 - 457 IPR018247-4

Functions

Description
EC Number 2.7.11.17 Protein-serine/threonine kinases
Subcellular Localization
  • Cytoplasm
  • Nucleus
  • Predominantly cytoplasmic
PANTHER Family PTHR24347 SERINE/THREONINE-PROTEIN KINASE
PANTHER Subfamily PTHR24347:SF197 CALCIUM_CALMODULIN-DEPENDENT PROTEIN KINASE TYPE 1
PANTHER Protein Class non-receptor serine/threonine protein kinase
protein modifying enzyme
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
glutamatergic synapse A synapse that uses glutamate as a neurotransmitter.
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.
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.

5 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
calmodulin binding Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states.
calmodulin-dependent protein kinase activity Calmodulin-dependent catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; and ATP + a protein threonine = ADP + protein threonine phosphate.
protein serine kinase activity Catalysis of the reactions: ATP + protein serine = ADP + protein serine 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.

21 GO annotations of biological process

Name Definition
cell cycle The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division.
cell differentiation The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
negative regulation of protein binding Any process that stops, prevents, or reduces the frequency, rate or extent of protein binding.
nervous system development The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
nucleocytoplasmic transport The directed movement of molecules between the nucleus and the cytoplasm.
peptidyl-serine phosphorylation The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine.
positive regulation of dendritic spine development Any process that increases the rate, frequency, or extent of dendritic spine development, the process whose specific outcome is the progression of the dendritic spine over time, from its formation to the mature structure.
positive regulation of muscle cell differentiation Any process that activates or increases the frequency, rate or extent of muscle cell differentiation.
positive regulation of neuron projection development Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
positive regulation of peptidyl-serine phosphorylation Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-serine.
positive regulation of protein acetylation Any process that activates or increases the frequency, rate or extent of protein acetylation.
positive regulation of protein export from nucleus Any process that activates or increases the frequency, rate or extent of directed movement of proteins from the nucleus into the cytoplasm.
positive regulation of protein serine/threonine kinase activity Any process that increases the rate, frequency, or extent of protein serine/threonine kinase activity.
positive regulation of synapse structural plasticity Any process that activates, maintains or increases the frequency, rate or extent of synaptic structural plasticity.
positive regulation of syncytium formation by plasma membrane fusion Any process that increases the frequency, rate or extent of the formation of a syncytium, a mass of cytoplasm containing several nuclei enclosed within a single plasma membrane, by the fusion of the plasma membranes of two or more individual cells.
positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
protein phosphorylation The process of introducing a phosphate group on to a protein.
regulation of muscle cell differentiation Any process that modulates the frequency, rate or extent of muscle cell differentiation.
regulation of protein binding Any process that modulates the frequency, rate or extent of protein binding.
regulation of protein localization Any process that modulates the frequency, rate or extent of any process in which a protein is transported to, or maintained in, a specific location.
signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

106 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
A4IFM7 MYLK2 Myosin light chain kinase 2, skeletal/cardiac muscle Bos taurus (Bovine) SS
Q0V7M1 PSKH1 Serine/threonine-protein kinase H1 Bos taurus (Bovine) SS
Q0VD22 STK33 Serine/threonine-protein kinase 33 Bos taurus (Bovine) PR
O15075 DCLK1 Serine/threonine-protein kinase DCLK1 Homo sapiens (Human) EV
Q9UIK4 DAPK2 Death-associated protein kinase 2 Homo sapiens (Human) EV
O94768 STK17B Serine/threonine-protein kinase 17B Homo sapiens (Human) PR
Q16566 CAMK4 Calcium/calmodulin-dependent protein kinase type IV Homo sapiens (Human) SS
Q8N568 DCLK2 Serine/threonine-protein kinase DCLK2 Homo sapiens (Human) PR
Q9UEE5 STK17A Serine/threonine-protein kinase 17A Homo sapiens (Human) SS
O75962 TRIO Triple functional domain protein Homo sapiens (Human) EV
Q8WWF8 CAPSL Calcyphosin-like protein Homo sapiens (Human) PR
P53355 DAPK1 Death-associated protein kinase 1 Homo sapiens (Human) EV
Q9BYT3 STK33 Serine/threonine-protein kinase 33 Homo sapiens (Human) PR
O43293 DAPK3 Death-associated protein kinase 3 Homo sapiens (Human) PR
P11801 PSKH1 Serine/threonine-protein kinase H1 Homo sapiens (Human) SS
Q9H1R3 MYLK2 Myosin light chain kinase 2, skeletal/cardiac muscle Homo sapiens (Human) EV
Q16816 PHKG1 Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform Homo sapiens (Human) PR
P15735 PHKG2 Phosphorylase b kinase gamma catalytic chain, liver/testis isoform Homo sapiens (Human) PR
Q13554 CAMK2B Calcium/calmodulin-dependent protein kinase type II subunit beta Homo sapiens (Human) EV
Q9UQM7 CAMK2A Calcium/calmodulin-dependent protein kinase type II subunit alpha Homo sapiens (Human) EV
Q13555 CAMK2G Calcium/calmodulin-dependent protein kinase type II subunit gamma Homo sapiens (Human) EV
Q13557 CAMK2D Calcium/calmodulin-dependent protein kinase type II subunit delta Homo sapiens (Human) EV
Q32MK0 MYLK3 Myosin light chain kinase 3 Homo sapiens (Human) SS
Q86YV6 MYLK4 Myosin light chain kinase family member 4 Homo sapiens (Human) SS
Q6P2M8 PNCK Calcium/calmodulin-dependent protein kinase type 1B Homo sapiens (Human) SS
Q96NX5 CAMK1G Calcium/calmodulin-dependent protein kinase type 1G Homo sapiens (Human) SS
Q8IU85 CAMK1D Calcium/calmodulin-dependent protein kinase type 1D Homo sapiens (Human) SS
Q8NCB2 CAMKV CaM kinase-like vesicle-associated protein Homo sapiens (Human) SS
Q9QYK9 Pnck Calcium/calmodulin-dependent protein kinase type 1B Mus musculus (Mouse) PR
Q91VB2 Camk1g Calcium/calmodulin-dependent protein kinase type 1G Mus musculus (Mouse) SS
Q8BG48 Stk17b Serine/threonine-protein kinase 17B Mus musculus (Mouse) PR
Q8VCR8 Mylk2 Myosin light chain kinase 2, skeletal/cardiac muscle Mus musculus (Mouse) SS
Q6PGN3 Dclk2 Serine/threonine-protein kinase DCLK2 Mus musculus (Mouse) PR
Q3UIZ8 Mylk3 Myosin light chain kinase 3 Mus musculus (Mouse) SS
Q8VDF3 Dapk2 Death-associated protein kinase 2 Mus musculus (Mouse) EV
Q6P8Y1 Capsl Calcyphosin-like protein Mus musculus (Mouse) PR
Q8BW96 Camk1d Calcium/calmodulin-dependent protein kinase type 1D Mus musculus (Mouse) SS
Q3UHL1 Camkv CaM kinase-like vesicle-associated protein Mus musculus (Mouse) SS
P08414 Camk4 Calcium/calmodulin-dependent protein kinase type IV Mus musculus (Mouse) SS
Q9JLM8 Dclk1 Serine/threonine-protein kinase DCLK1 Mus musculus (Mouse) SS
Q91YA2 Pskh1 Serine/threonine-protein kinase H1 Mus musculus (Mouse) SS
Q80YE7 Dapk1 Death-associated protein kinase 1 Mus musculus (Mouse) SS
Q62407 Speg Striated muscle-specific serine/threonine-protein kinase Mus musculus (Mouse) SS
Q0KL02 Trio Triple functional domain protein Mus musculus (Mouse) SS
Q924X7 Stk33 Serine/threonine-protein kinase 33 Mus musculus (Mouse) PR
O54784 Dapk3 Death-associated protein kinase 3 Mus musculus (Mouse) PR
Q91YS8 Camk1 Calcium/calmodulin-dependent protein kinase type 1 Mus musculus (Mouse) SS
Q7TNJ7 Camk1g Calcium/calmodulin-dependent protein kinase type 1G Rattus norvegicus (Rat) SS
P20689 Mylk2 Myosin light chain kinase 2, skeletal/cardiac muscle Rattus norvegicus (Rat) SS
F1M0Z1 Trio Triple functional domain protein Rattus norvegicus (Rat) SS
Q91XS8 Stk17b Serine/threonine-protein kinase 17B Rattus norvegicus (Rat) PR
O08875 Dclk1 Serine/threonine-protein kinase DCLK1 Rattus norvegicus (Rat) PR
E9PT87 Mylk3 Myosin light chain kinase 3 Rattus norvegicus (Rat) SS
O70150 Pnck Calcium/calmodulin-dependent protein kinase type 1B Rattus norvegicus (Rat) PR
Q63092 Camkv CaM kinase-like vesicle-associated protein Rattus norvegicus (Rat) SS
Q63638 Speg Striated muscle-specific serine/threonine-protein kinase Rattus norvegicus (Rat) SS
O88764 Dapk3 Death-associated protein kinase 3 Rattus norvegicus (Rat) PR
P13234 Camk4 Calcium/calmodulin-dependent protein kinase type IV Rattus norvegicus (Rat) SS
P97924 Kalrn Kalirin Rattus norvegicus (Rat) SS
Q5MPA9 Dclk2 Serine/threonine-protein kinase DCLK2 Rattus norvegicus (Rat) PR
Q63450 Camk1 Calcium/calmodulin-dependent protein kinase type 1 Rattus norvegicus (Rat) EV
Q6AVM3 CCAMK Calcium and calcium/calmodulin-dependent serine/threonine-protein kinase Oryza sativa subsp japonica (Rice) PR
P53682 CPK23 Calcium-dependent protein kinase 23 Oryza sativa subsp japonica (Rice) PR
P53684 CPK7 Calcium-dependent protein kinase 7 Oryza sativa subsp japonica (Rice) PR
Q5VQQ5 CPK2 Calcium-dependent protein kinase 2 Oryza sativa subsp. japonica (Rice) SS
Q6I5I8 CPK16 Calcium-dependent protein kinase 16 Oryza sativa subsp. japonica (Rice) SS
Q6K968 CPK6 Calcium-dependent protein kinase 6 Oryza sativa subsp. japonica (Rice) SS
Q75GE8 CPK8 Calcium-dependent protein kinase 8 Oryza sativa subsp. japonica (Rice) SS
Q84SL0 CPK20 Calcium-dependent protein kinase 20 Oryza sativa subsp. japonica (Rice) SS
Q8LPZ7 CPK3 Calcium-dependent protein kinase 3 Oryza sativa subsp. japonica (Rice) SS
O44997 dapk-1 Death-associated protein kinase dapk-1 Caenorhabditis elegans SS
Q95QC4 zyg-8 Serine/threonine-protein kinase zyg-8 Caenorhabditis elegans PR
Q9TXJ0 cmk-1 Calcium/calmodulin-dependent protein kinase type 1 Caenorhabditis elegans PR
P28583 Calcium-dependent protein kinase SK5 Glycine max (Soybean) (Glycine hispida) PR
Q9M9V8 CPK10 Calcium-dependent protein kinase 10 Arabidopsis thaliana (Mouse-ear cress) PR
Q9FX86 CRK8 CDPK-related kinase 8 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SSF8 CPK30 Calcium-dependent protein kinase 30 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SIQ7 CPK24 Calcium-dependent protein kinase 24 Arabidopsis thaliana (Mouse-ear cress) PR
P93759 GK-1 Calcium-dependent protein kinase 14 Arabidopsis thaliana (Mouse-ear cress) PR
Q8S8S2 LPEAT2 Lysophospholipid acyltransferase LPEAT2 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LJL9 CRK2 CDPK-related kinase 2 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SG12 CRK6 CDPK-related kinase 6 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SCS2 CRK5 CDPK-related kinase 5 Arabidopsis thaliana (Mouse-ear cress) PR
Q8W4I7 CPK13 Calcium-dependent protein kinase 13 Arabidopsis thaliana (Mouse-ear cress) PR
Q6NLQ6 CPK32 Calcium-dependent protein kinase 32 Arabidopsis thaliana (Mouse-ear cress) PR
Q38873 CPK7 Calcium-dependent protein kinase 7 Arabidopsis thaliana (Mouse-ear cress) PR
Q42438 CPK8 Calcium-dependent protein kinase 8 Arabidopsis thaliana (Mouse-ear cress) PR
Q06850 CPK1 Calcium-dependent protein kinase 1 Arabidopsis thaliana (Mouse-ear cress) PR
Q38869 CPK4 Calcium-dependent protein kinase 4 Arabidopsis thaliana (Mouse-ear cress) SS
Q38870 CPK2 Calcium-dependent protein kinase 2 Arabidopsis thaliana (Mouse-ear cress) PR
Q38872 CPK6 Calcium-dependent protein kinase 6 Arabidopsis thaliana (Mouse-ear cress) PR
Q39016 CPK11 Calcium-dependent protein kinase 11 Arabidopsis thaliana (Mouse-ear cress) SS
Q3E9C0 CPK34 Calcium-dependent protein kinase 34 Arabidopsis thaliana (Mouse-ear cress) PR
Q42396 CPK12 Calcium-dependent protein kinase 12 Arabidopsis thaliana (Mouse-ear cress) SS
Q42479 CPK3 Calcium-dependent protein kinase 3 Arabidopsis thaliana (Mouse-ear cress) PR
Q7XJR9 CPK16 Calcium-dependent protein kinase 16 Arabidopsis thaliana (Mouse-ear cress) PR
Q9FMP5 CPK17 Calcium-dependent protein kinase 17 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SJ61 CPK25 Calcium-dependent protein kinase 25 Arabidopsis thaliana (Mouse-ear cress) PR
Q9ZSA4 CPK27 Calcium-dependent protein kinase 27 Arabidopsis thaliana (Mouse-ear cress) PR
Q9ZV15 CPK20 Calcium-dependent protein kinase 20 Arabidopsis thaliana (Mouse-ear cress) PR
Q1PE17 CPK18 Calcium-dependent protein kinase 18 Arabidopsis thaliana (Mouse-ear cress) SS
Q9FKW4 CPK28 Calcium-dependent protein kinase 28 Arabidopsis thaliana (Mouse-ear cress) SS
Q38997 KIN10 SNF1-related protein kinase catalytic subunit alpha KIN10 Arabidopsis thaliana (Mouse-ear cress) SS
Q1LUA6 trio Triple functional domain protein Danio rerio (Zebrafish) (Brachydanio rerio) SS
A8C984 mylk3 Myosin light chain kinase 3 Danio rerio (Zebrafish) (Brachydanio rerio) SS
Q7SY49 camkv CaM kinase-like vesicle-associated protein Danio rerio (Zebrafish) (Brachydanio rerio) SS
10 20 30 40 50 60
MLGAVEGPRW KQAEDIRDIY DFRDVLGTGA FSEVILAEDK RTQKLVAIKC IAKEALEGKE
70 80 90 100 110 120
GSMENEIAVL HKIKHPNIVA LDDIYESGGH LYLIMQLVSG GELFDRIVEK GFYTERDASR
130 140 150 160 170 180
LIFQVLDAVK YLHDLGIVHR DLKPENLLYY SLDEDSKIMI SDFGLSKMED PGSVLSTACG
190 200 210 220 230 240
TPGYVAPEVL AQKPYSKAVD CWSIGVIAYI LLCGYPPFYD ENDAKLFEQI LKAEYEFDSP
250 260 270 280 290 300
YWDDISDSAK DFIRHLMEKD PEKRFTCEQA LQHPWIAGDT ALDKNIHQSV SEQIKKNFAK
310 320 330 340 350 360
SKWKQAFNAT AVVRHMRKLQ LGTSQEGQGQ TASHGELLTP VAGGPAAGCC CRDCCVEPGT
ELSPTLPHQL