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. In human CAMK1, 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

23-277 (Protein kinase domain)

Relief mechanism

Ligand binding

Assay

Accessory elements

163-184 (Activation loop from InterPro)

Target domain

23-277 (Protein kinase domain)

Relief mechanism

Assay

References

Autoinhibited structure

Activated structure

2 structures for Q96NX5

Entry ID Method Resolution Chain Position Source
2JAM X-ray 170 A A/B 18-316 PDB
AF-Q96NX5-F1 Predicted AlphaFoldDB

320 variants for Q96NX5

Variant ID(s) Position Change Description Diseaes Association Provenance
CA1374366
rs755683128
2 G>R No ClinGen
ExAC
gnomAD
CA1374367
rs140469539
3 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1374369
rs749190689
3 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA1374368
rs749190689
3 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs778596149
CA1374370
4 K>R No ClinGen
ExAC
gnomAD
rs1314604551
CA344566803
8 D>Y No ClinGen
gnomAD
rs777060962
CA1374373
9 C>F No ClinGen
ExAC
gnomAD
rs576418443
CA1374372
9 C>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs138495087
CA1374374
10 S>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1374376
rs200386679
12 W>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA36730224
rs865788009
16 T>A No ClinGen
Ensembl
rs970626616
CA36730229
17 T>I No ClinGen
TOPMed
rs1317258358
CA344567014
18 N>S No ClinGen
TOPMed
CA1374380
rs148219739
20 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1374378
rs375301374
20 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs750092537
CA1374382
26 M>T No ClinGen
ExAC
gnomAD
rs760257403
CA1374383
28 V>M No ClinGen
ExAC
CA344567195
rs1186728039
29 L>R No ClinGen
gnomAD
CA1374384
rs765907363
30 G>A No ClinGen
ExAC
gnomAD
CA344568054
rs1571779203
32 G>R No ClinGen
Ensembl
rs1213345049
CA344568069
34 F>S No ClinGen
gnomAD
rs146389830
CA1374408
38 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1263923014
CA344568095
38 F>Y No ClinGen
TOPMed
CA344568120
rs1571779237
42 Q>* No ClinGen
Ensembl
rs543976196
CA1374410
43 R>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1374412
rs563094009
48 L>F No ClinGen
1000Genomes
ExAC
gnomAD
CA344568161
rs1484580761
48 L>H No ClinGen
TOPMed
gnomAD
rs778796137
CA1374414
49 F>Y No ClinGen
ExAC
gnomAD
rs748689663
CA1374415
50 A>S No ClinGen
ExAC
gnomAD
CA344568183
rs1571779259
52 K>R No ClinGen
Ensembl
rs747415736
CA1374418
54 I>T No ClinGen
ExAC
gnomAD
rs773689930
CA1374417
54 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA1374419
rs771198006
55 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA344568210
rs1319168163
56 K>T No ClinGen
gnomAD
rs1344804746
CA344568225
58 P>L No ClinGen
gnomAD
CA36734039
rs541677675
58 P>S No ClinGen
Ensembl
rs1428767509
CA344568230
59 A>V No ClinGen
gnomAD
CA1374421
rs759054187
61 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs145309971
CA1374420
COSM271146
61 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA1374422
rs764833638
62 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA344568244
rs764833638
62 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs762527676
CA1374424
64 S>I No ClinGen
ExAC
gnomAD
rs778787113
CA344568297
69 I>N No ClinGen
TOPMed
gnomAD
CA36734052
rs778787113
69 I>T No ClinGen
TOPMed
gnomAD
CA344568302
rs1464975170
70 A>T No ClinGen
TOPMed
rs372707538
CA36734063
71 V>E No ClinGen
ESP
TOPMed
rs751536292
CA1374426
71 V>M No ClinGen
ExAC
CA344568318
rs1253070204
73 K>E No ClinGen
gnomAD
rs767156458
CA1374428
74 K>E No ClinGen
ExAC
gnomAD
CA1374429
rs754098619
74 K>M No ClinGen
ExAC
TOPMed
gnomAD
rs1461034289
CA344568666
COSM1500656
74 K>N lung [Cosmic] No ClinGen
cosmic curated
gnomAD
CA344568747
rs1571781662
80 I>T No ClinGen
Ensembl
rs1328622195
CA344568814
87 Y>H No ClinGen
gnomAD
rs1486114545
CA344568822
88 E>K No ClinGen
TOPMed
CA1374451
rs752913572
92 H>Y No ClinGen
ExAC
gnomAD
rs758533189
CA1374452
94 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs1438464501
CA344569552
100 V>I No ClinGen
gnomAD
rs1176068980
CA344569687
106 F>S No ClinGen
gnomAD
rs760454966
CA1374466
108 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA1374465
rs376036886
108 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1374467
rs766150299
111 E>K No ClinGen
ExAC
gnomAD
rs144255822
CA1374469
112 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM366001
rs144255822
CA1374468
112 R>Q lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA344569804
rs1314268242
COSM1199463
112 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
CA344569890
rs1465880726
116 T>I No ClinGen
gnomAD
rs369359024
CA1374471
122 L>V No ClinGen
ESP
ExAC
gnomAD
CA344570086
rs1174663356
125 Q>H No ClinGen
TOPMed
gnomAD
rs1171132542
CA344570101
126 Q>R No ClinGen
gnomAD
rs757329417
CA1374472
127 V>I No ClinGen
ExAC
gnomAD
rs781615396
CA1374473
128 L>F No ClinGen
ExAC
gnomAD
rs141169338
COSM1199464
CA1374475
129 S>L large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA344570169
rs1381208455
130 A>P No ClinGen
gnomAD
CA36737489
rs76562658
132 K>E No ClinGen
Ensembl
rs1317940530
CA344570244
133 Y>* No ClinGen
gnomAD
CA344570344
rs1287292799
138 G>V No ClinGen
TOPMed
CA36737494
rs748976817
139 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs1466273377
CA344570349
139 I>V No ClinGen
gnomAD
rs768376674
CA1374478
140 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA36737503
rs768376674
140 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1374744917
CA344570412
142 R>K No ClinGen
gnomAD
rs147371769
CA36737881
147 E>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1374501
rs147371769
147 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs770903249
CA1374502
149 L>M No ClinGen
ExAC
gnomAD
rs1234309560
CA344570856
155 E>V No ClinGen
TOPMed
CA1374506
rs774446976
156 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs962736514
CA36737907
160 I>T No ClinGen
TOPMed
gnomAD
rs767522588
CA1374508
161 M>K No ClinGen
ExAC
gnomAD
rs1558140443
CA344571037
163 T>A No ClinGen
Ensembl
CA1374510
rs760818427
168 S>F No ClinGen
ExAC
gnomAD
CA344571155
rs1558140458
169 K>R No ClinGen
Ensembl
rs745333577
CA36737920
170 M>V No ClinGen
Ensembl
CA1374511
rs767035299
175 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1328333630
CA344571328
177 S>T No ClinGen
TOPMed
rs1408251332
CA344571360
179 A>D No ClinGen
TOPMed
rs1408251332
CA344571362
179 A>G No ClinGen
TOPMed
rs1409479540
CA344571358
179 A>S No ClinGen
gnomAD
CA1374514
rs765580376
184 G>A No ClinGen
ExAC
rs777172542
CA1374517
186 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1277325714
CA344571987
187 A>V No ClinGen
TOPMed
rs1357607231
CA344572002
190 V>M No ClinGen
gnomAD
rs1433037180
CA344572020
193 Q>* No ClinGen
gnomAD
rs1571785380
CA344572039
195 P>R No ClinGen
Ensembl
rs751606116
CA36738744
196 Y>* No ClinGen
ExAC
gnomAD
rs1365114369
CA344572049
197 S>G No ClinGen
gnomAD
CA344572066
rs1398132058
199 A>S No ClinGen
TOPMed
CA344572114
COSM1929027
rs1349002035
206 G>S prostate [Cosmic] No ClinGen
cosmic curated
gnomAD
CA1374540
rs757176272
207 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs749151931
CA1374541
208 I>F No ClinGen
ExAC
gnomAD
CA1374542
rs768334520
210 Y>H No ClinGen
ExAC
gnomAD
CA1374557
rs780108701
214 C>S No ClinGen
ExAC
TOPMed
gnomAD
rs144298174
CA1374558
216 Y>* No ClinGen
ESP
ExAC
gnomAD
rs372047332
CA1374560
218 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1374561
rs747266239
218 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1323405995
CA344572530
220 Y>C No ClinGen
TOPMed
rs199812064
CA1374564
223 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA344572606
rs1571786293
225 S>A No ClinGen
Ensembl
CA1374566
rs776077217
225 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA1374569
rs774645531
229 E>G No ClinGen
ExAC
rs769092278
CA1374568
229 E>K No ClinGen
ExAC
gnomAD
rs1356591445
CA344572720
232 K>R No ClinGen
gnomAD
rs762140202
CA1374570
235 Y>H No ClinGen
ExAC
gnomAD
rs767195803
CA1374571
235 Y>S No ClinGen
ExAC
CA36739508
rs1019025157
242 F>S No ClinGen
TOPMed
CA36739511
rs567514631
243 W>* No ClinGen
gnomAD
CA36739509
rs567514631
243 W>C No ClinGen
gnomAD
rs878869929
CA36739517
244 D>G No ClinGen
gnomAD
CA344572929
rs1355578721
244 D>N No ClinGen
gnomAD
CA344572939
rs878869929
244 D>V No ClinGen
gnomAD
CA1374573
rs760294215
246 I>T No ClinGen
ExAC
gnomAD
CA1374574
rs765752817
248 E>K No ClinGen
ExAC
gnomAD
rs1393850353
CA344573469
252 D>V No ClinGen
gnomAD
rs35561962
VAR_040600
CA1374605
259 E>Q No ClinGen
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA1374606
rs201972342
260 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1434206258
CA344573688
262 P>L No ClinGen
TOPMed
gnomAD
CA1374610
rs770539963
264 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs769369395
CA1374613
265 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs759185718
CA1374612
265 R>W No ClinGen
ExAC
gnomAD
rs980743552
CA36740212
267 T>I No ClinGen
TOPMed
gnomAD
rs1188444480
CA344573800
268 C>G No ClinGen
gnomAD
rs1422104646
CA344574316
277 I>T No ClinGen
gnomAD
CA344574324
rs370631457
278 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1374639
rs765327727
279 G>R No ClinGen
ExAC
gnomAD
rs778211724
CA1374642
285 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs369181812
CA1374641
285 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA344574370
rs1195581708
286 D>Y No ClinGen
TOPMed
rs1026238276
CA36740918
287 I>V No ClinGen
TOPMed
CA1374644
rs140065354
289 P>L No ClinGen
ESP
ExAC
rs1227936352
CA344574390
289 P>S No ClinGen
gnomAD
CA344574399
rs1326931098
290 S>L No ClinGen
TOPMed
CA344574423
rs1324043676
294 Q>* No ClinGen
TOPMed
gnomAD
rs1324043676
CA344574421
294 Q>K No ClinGen
TOPMed
gnomAD
rs187124482
CA1374645
COSM903286
297 K>N endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA344574523
rs1197902006
302 S>G No ClinGen
gnomAD
rs373011174
CA1374647
302 S>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs779820981
CA1374648
302 S>R No ClinGen
ExAC
gnomAD
CA1374649
rs377745870
304 W>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1374650
rs377745870
304 W>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA344574565
rs1301867762
305 R>K No ClinGen
TOPMed
gnomAD
rs1301867762
CA344574566
305 R>T No ClinGen
TOPMed
gnomAD
CA344574664
rs763192311
307 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs763192311
CA1374679
307 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA1374680
rs764099572
309 N>Y No ClinGen
ExAC
gnomAD
CA1374682
rs374701638
310 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs750952662
CA1374684
314 V>A No ClinGen
ExAC
gnomAD
CA1374683
rs367925085
314 V>L No ClinGen
ESP
ExAC
gnomAD
CA1374686
rs756559169
315 H>N No ClinGen
ExAC
gnomAD
rs756559169
CA1374685
315 H>Y No ClinGen
ExAC
gnomAD
rs1195250957
CA344574775
316 H>P No ClinGen
TOPMed
gnomAD
rs1195250957
CA344574777
316 H>R No ClinGen
TOPMed
gnomAD
CA344574783
rs1427607438
317 M>L No ClinGen
gnomAD
CA1374687
rs150063130
318 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA344574812
rs1320455959
319 K>R No ClinGen
TOPMed
CA1374690
rs747734197
321 H>Y No ClinGen
ExAC
gnomAD
rs145387182
CA1374692
322 M>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145387182
CA1374693
322 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200699828
CA1374694
323 N>K No ClinGen
1000Genomes
ExAC
gnomAD
CA344574912
rs780912545
325 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs745624571
CA1374697
326 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs768959300
CA1374699
326 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA1374701
rs772219308
327 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs762009520
CA1374700
327 P>S No ClinGen
ExAC
rs11119315
VAR_020530
CA1374704
329 V>I No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA344574962
rs1478490067
330 R>C No ClinGen
TOPMed
gnomAD
CA1374705
rs776808728
COSM903287
330 R>H endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs759788204
CA1374706
331 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1571788966
CA344574983
333 V>G No ClinGen
Ensembl
rs148199770
CA36741177
334 E>D No ClinGen
ESP
TOPMed
CA1374710
rs777200877
334 E>G No ClinGen
ExAC
gnomAD
CA1374709
rs752282907
334 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs752282907
CA1374708
334 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA344574995
rs1456061643
335 N>K No ClinGen
TOPMed
gnomAD
CA344575001
rs1558142827
336 R>K No ClinGen
Ensembl
CA344575008
rs138107739
336 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA36741189
rs568676041
337 P>L No ClinGen
1000Genomes
CA1374714
rs745739420
340 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1209953004
CA344575070
342 A>T No ClinGen
TOPMed
CA1374715
rs769462883
347 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1571789026
CA344575142
348 P>L No ClinGen
Ensembl
rs1055555041
CA36741215
349 S>G No ClinGen
gnomAD
rs1327012705
CA344575155
350 S>A No ClinGen
gnomAD
rs1229910134
CA344575161
350 S>C No ClinGen
gnomAD
CA1374717
rs138637491
351 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA344575198
rs1267124286
354 T>A No ClinGen
gnomAD
CA1374718
rs554479000
355 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA36741223
rs373639592
356 T>I No ClinGen
ESP
TOPMed
COSM678816
CA1374720
rs760816448
357 E>K lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA1374723
rs760008213
359 P>S No ClinGen
ExAC
gnomAD
rs1290365437
CA344575264
360 V>A No ClinGen
TOPMed
CA344575260
rs1415133413
360 V>F No ClinGen
gnomAD
rs752401839
CA1374725
364 S>N No ClinGen
ExAC
gnomAD
CA344575302
rs1321981406
364 S>R No ClinGen
gnomAD
CA36741274
rs576518024
366 A>T No ClinGen
Ensembl
rs762540918
CA1374726
367 L>F No ClinGen
ExAC
gnomAD
CA1374727
rs763711352
368 P>R No ClinGen
ExAC
gnomAD
rs1306891937
CA344575340
368 P>S No ClinGen
gnomAD
CA344575346
rs1284756895
369 A>S No ClinGen
TOPMed
gnomAD
CA1374729
rs201370771
371 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1374730
rs781247619
373 L>F No ClinGen
ExAC
gnomAD
rs1276442720
CA344575381
373 L>I No ClinGen
TOPMed
gnomAD
CA344575394
rs1206088954
374 P>A No ClinGen
gnomAD
rs1251323365
CA344575398
374 P>H No ClinGen
gnomAD
CA344575391
rs1206088954
374 P>S No ClinGen
gnomAD
rs886231844
CA36741308
375 C>F No ClinGen
Ensembl
CA344575412
rs1436203092
375 C>W No ClinGen
gnomAD
rs1189693651
CA344575420
376 Q>R No ClinGen
gnomAD
rs201488482
COSM1317580
CA1374731
378 G>D haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
rs372169686
CA1374732
379 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375273380
CA1374733
379 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375273380
CA36741312
379 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1374735
rs538751935
380 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA1374734
rs748406333
380 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1558142953
CA344575477
382 T>I No ClinGen
Ensembl
rs1345858627
CA344575493
384 P>H No ClinGen
TOPMed
rs1334174094
CA344575514
386 G>A No ClinGen
gnomAD
CA344575524
rs1339821775
387 R>K No ClinGen
gnomAD
rs1255469866
CA344575533
388 S>A No ClinGen
TOPMed
rs778110659
CA1374737
388 S>F No ClinGen
ExAC
gnomAD
CA344575531
rs1255469866
388 S>P No ClinGen
TOPMed
rs778110659
CA1374736
388 S>Y No ClinGen
ExAC
gnomAD
CA344575547
rs1571789229
390 N>H No ClinGen
Ensembl
CA344575571
rs1571789233
391 C>S No ClinGen
Ensembl
CA344575661
rs1365713218
395 G>D No ClinGen
gnomAD
CA344575677
rs1274588354
396 S>P No ClinGen
gnomAD
CA344575713
rs1309445777
397 L>F No ClinGen
TOPMed
CA344575722
rs1571789259
397 L>P No ClinGen
Ensembl
CA344575763
rs1299550480
399 I>S No ClinGen
TOPMed
CA344575851
rs1364177577
402 S>R No ClinGen
TOPMed
rs777212544
CA1374740
406 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA344575948
rs1397680191
407 H>Y No ClinGen
TOPMed
CA344575979
rs1188309770
409 G>W No ClinGen
gnomAD
CA344575990
rs1571789306
410 S>A No ClinGen
Ensembl
CA1374744
rs763269724
412 A>D No ClinGen
ExAC
gnomAD
CA1374748
rs200585732
413 A>S No ClinGen
ExAC
TOPMed
rs200585732
CA1374746
413 A>T No ClinGen
ExAC
TOPMed
CA36741350
rs766870629
414 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA1374750
rs766870629
414 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs750404048
CA1374751
416 C>R No ClinGen
ExAC
gnomAD
rs755954596
CA1374752
417 G>V No ClinGen
ExAC
gnomAD
rs1198735585
CA344576174
418 C>S No ClinGen
TOPMed
CA344576214
rs1324919560
421 S>R No ClinGen
TOPMed
gnomAD
CA1374753
rs142776782
421 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1235625978
CA344576223
421 S>T No ClinGen
TOPMed
gnomAD
rs754816814
CA1374756
425 I>F No ClinGen
ExAC
TOPMed
gnomAD
rs747174044
CA1374757
425 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA1374755
rs754816814
425 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs757366522
CA1374758
426 G>W No ClinGen
ExAC
TOPMed
gnomAD
rs867571755
CA36741380
427 S>N No ClinGen
Ensembl
CA344576346
rs781095316
427 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA344576372
rs1452175982
428 K>N No ClinGen
gnomAD
CA1374760
rs745935850
428 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA1374761
rs770241569
430 K>N No ClinGen
ExAC
gnomAD
CA1374762
rs775968262
431 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs966818017
CA36741387
431 S>P No ClinGen
gnomAD
CA36741401
rs941904876
432 S>P No ClinGen
TOPMed
CA1374763
rs749707922
433 Y>C No ClinGen
ExAC
gnomAD
CA1374764
rs768950826
434 C>F No ClinGen
ExAC
gnomAD
rs61729828
CA36741419
435 S>P No ClinGen
TOPMed
CA1374765
rs371880689
436 E>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1456583995
CA344576506
436 E>Q No ClinGen
gnomAD
rs371880689
CA1374766
436 E>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs939624820
CA36741431
437 P>T No ClinGen
TOPMed
gnomAD
CA1374768
rs185632658
439 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs543943116
CA1374769
440 L>H No ClinGen
1000Genomes
ExAC
gnomAD
CA344576680
rs1330453145
442 K>N No ClinGen
gnomAD
COSM618
rs1228276529
CA344576689
VAR_040601
443 A>T a breast infiltrating ductal carcinoma sample; somatic mutation breast [UniProt, Cosmic] No ClinGen
cosmic curated
UniProt
dbSNP
gnomAD
rs533703886
CA36741439
443 A>V No ClinGen
Ensembl
rs769807413
CA344576728
444 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA1374771
rs769807413
444 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs929956229
CA36741453
446 K>N No ClinGen
TOPMed
gnomAD
rs775482310
CA344576789
447 Q>* No ClinGen
TOPMed
gnomAD
rs775482310
CA36741456
447 Q>E No ClinGen
TOPMed
gnomAD
rs1571789529
CA344576796
447 Q>L No ClinGen
Ensembl
CA1374793
rs767686108
448 N>S No ClinGen
ExAC
gnomAD
CA344577123
rs1402266136
449 F>S No ClinGen
gnomAD
CA36741722
rs1024283499
451 S>L No ClinGen
TOPMed
gnomAD
CA36741715
rs186593003
451 S>P No ClinGen
1000Genomes
rs200356538
CA1374795
452 E>A No ClinGen
1000Genomes
ExAC
gnomAD
CA36741740
rs780067705
452 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA1374797
rs754363636
453 V>A No ClinGen
ExAC
gnomAD
CA344578288
rs1274979121
454 M>I No ClinGen
gnomAD
rs1231037633
CA344578286
454 M>T No ClinGen
gnomAD
rs1571789949
CA344578304
455 V>I No ClinGen
Ensembl
rs755526025
CA1374798
457 V>A No ClinGen
ExAC
gnomAD
rs1306555994
CA344578331
457 V>F No ClinGen
gnomAD
rs748530477
CA1374802
461 G>A No ClinGen
ExAC
gnomAD
CA1374801
rs779362541
461 G>S No ClinGen
ExAC
gnomAD
CA1374803
rs772471536
462 S>G No ClinGen
ExAC
gnomAD
CA1374804
rs777305509
462 S>N No ClinGen
ExAC
gnomAD
CA1374805
rs746608566
462 S>R No ClinGen
ExAC
gnomAD
rs770600382
CA1374806
463 S>A No ClinGen
ExAC
gnomAD
rs776234229
CA1374807
464 H>P No ClinGen
ExAC
gnomAD
CA344578522
rs1323866847
465 C>Y No ClinGen
TOPMed
CA1374809
rs769916493
466 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA1374808
rs759097752
466 R>W No ClinGen
ExAC
gnomAD
CA36741797
rs758265764
467 A>V No ClinGen
Ensembl
CA1374812
rs751998428
469 Q>H No ClinGen
ExAC
gnomAD
rs543075805
CA1374811
469 Q>K No ClinGen
1000Genomes
ExAC
gnomAD
CA344578663
rs1228222534
470 T>S No ClinGen
TOPMed
rs1360852796
CA344578714
472 V>A No ClinGen
gnomAD
rs1290234738
CA344578768
474 L>R No ClinGen
TOPMed

No associated diseases with Q96NX5

3 regional properties for Q96NX5

Type Name Position InterPro Accession
domain Protein kinase domain 23 - 277 IPR000719
active_site Serine/threonine-protein kinase, active site 139 - 151 IPR008271
binding_site Protein kinase, ATP binding site 29 - 56 IPR017441

Functions

Description
EC Number 2.7.11.17 Protein-serine/threonine kinases
Subcellular Localization
  • Cytoplasm
  • Golgi apparatus membrane ; Peripheral membrane protein
  • Cell membrane ; Peripheral membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
calcium- and calmodulin-dependent protein kinase complex An enzyme complex which in eukaryotes is composed of four different chains: alpha, beta, gamma, and delta. The different isoforms assemble into homo- or heteromultimeric holoenzymes composed of 8 to 12 subunits. Catalyzes the phosphorylation of proteins to O-phosphoproteins.
Golgi membrane The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
neuron projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

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.

1 GO annotations of biological process

Name Definition
peptidyl-serine phosphorylation The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine.

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
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
Q9H1R3 MYLK2 Myosin light chain kinase 2, skeletal/cardiac muscle 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
P11801 PSKH1 Serine/threonine-protein kinase H1 Homo sapiens (Human) SS
Q6P2M8 PNCK Calcium/calmodulin-dependent protein kinase type 1B 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
Q14012 CAMK1 Calcium/calmodulin-dependent protein kinase type 1 Homo sapiens (Human) EV
Q9QYK9 Pnck Calcium/calmodulin-dependent protein kinase type 1B Mus musculus (Mouse) PR
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
Q91YS8 Camk1 Calcium/calmodulin-dependent protein kinase type 1 Mus musculus (Mouse) SS
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
Q91VB2 Camk1g Calcium/calmodulin-dependent protein kinase type 1G Mus musculus (Mouse) 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
Q63450 Camk1 Calcium/calmodulin-dependent protein kinase type 1 Rattus norvegicus (Rat) EV
P97924 Kalrn Kalirin Rattus norvegicus (Rat) SS
Q5MPA9 Dclk2 Serine/threonine-protein kinase DCLK2 Rattus norvegicus (Rat) PR
Q7TNJ7 Camk1g Calcium/calmodulin-dependent protein kinase type 1G Rattus norvegicus (Rat) SS
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
MGRKEEDDCS SWKKQTTNIR KTFIFMEVLG SGAFSEVFLV KQRLTGKLFA LKCIKKSPAF
70 80 90 100 110 120
RDSSLENEIA VLKKIKHENI VTLEDIYEST THYYLVMQLV SGGELFDRIL ERGVYTEKDA
130 140 150 160 170 180
SLVIQQVLSA VKYLHENGIV HRDLKPENLL YLTPEENSKI MITDFGLSKM EQNGIMSTAC
190 200 210 220 230 240
GTPGYVAPEV LAQKPYSKAV DCWSIGVITY ILLCGYPPFY EETESKLFEK IKEGYYEFES
250 260 270 280 290 300
PFWDDISESA KDFICHLLEK DPNERYTCEK ALSHPWIDGN TALHRDIYPS VSLQIQKNFA
310 320 330 340 350 360
KSKWRQAFNA AAVVHHMRKL HMNLHSPGVR PEVENRPPET QASETSRPSS PEITITEAPV
370 380 390 400 410 420
LDHSVALPAL TQLPCQHGRR PTAPGGRSLN CLVNGSLHIS SSLVPMHQGS LAAGPCGCCS
430 440 450 460 470
SCLNIGSKGK SSYCSEPTLL KKANKKQNFK SEVMVPVKAS GSSHCRAGQT GVCLIM