Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

330-353 (Activation loop from InterPro)

Target domain

192-473 (Protein kinase domain)

Relief mechanism

Assay

Autoinhibited structure

Activated structure

1 structures for Q00537

Entry ID Method Resolution Chain Position Source
AF-Q00537-F1 Predicted AlphaFoldDB

269 variants for Q00537

Variant ID(s) Position Change Description Diseaes Association Provenance
CA386150515
rs1355590293
3 K>* No ClinGen
gnomAD
rs1280012538
CA386150514
3 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA386150486
rs1592735283
7 R>G No ClinGen
Ensembl
CA386150480
rs1409459723
7 R>S No ClinGen
gnomAD
CA6729648
rs746956260
10 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs898926563
CA386150463
11 T>A No ClinGen
TOPMed
gnomAD
CA242135398
rs898926563
11 T>P No ClinGen
TOPMed
gnomAD
CA242135397
rs751882861
11 T>R No ClinGen
Ensembl
rs1274364411
CA386150453
13 R>G No ClinGen
TOPMed
rs1390084740
CA386150451
13 R>Q No ClinGen
gnomAD
CA386150447
rs1592735246
14 G>R No ClinGen
Ensembl
CA386150415
rs1473857566
18 I>M No ClinGen
TOPMed
gnomAD
rs1010065199
CA242135396
18 I>V No ClinGen
Ensembl
rs1038829271
CA386150408
19 D>E No ClinGen
TOPMed
gnomAD
rs368598818
CA242135395
19 D>G No ClinGen
ESP
gnomAD
rs145038519
CA6729645
20 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6729644
rs774668171
22 L>S No ClinGen
ExAC
gnomAD
rs774668171
CA386150391
22 L>W No ClinGen
ExAC
gnomAD
rs901089356
CA242135393
23 S>C No ClinGen
Ensembl
CA6729643
rs766589539
24 E>K No ClinGen
ExAC
gnomAD
rs770353534
CA6729640
30 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1210586515
CA386150336
30 T>I No ClinGen
TOPMed
gnomAD
rs770353534
CA386150337
30 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs747626982
CA6729639
31 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA386150324
rs1232979690
32 E>G No ClinGen
TOPMed
TCGA novel 33 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA242135392
rs755499744
37 K>Q No ClinGen
Ensembl
CA386150230
rs1320525925
42 I>M No ClinGen
gnomAD
rs370471368
CA242134257
47 R>G No ClinGen
ESP
TOPMed
CA6729623
rs766686053
48 P>A No ClinGen
ExAC
gnomAD
CA6729621
rs200736157
50 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs575045885
CA6729620
50 T>M No ClinGen
1000Genomes
ExAC
gnomAD
CA386150172
rs1447190561
52 H>Y No ClinGen
gnomAD
rs1484189159
CA386150125
58 L>F No ClinGen
gnomAD
CA386150110
rs1592729061
60 Q>P No ClinGen
Ensembl
CA242134254
rs1036650802
63 G>V No ClinGen
TOPMed
rs371601842
CA6729615
CA6729614
65 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386150056
rs1271913510
68 P>H No ClinGen
TOPMed
rs745624608
CA386150058
68 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA6729613
rs745624608
68 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs1275556126
CA386150052
69 P>A No ClinGen
gnomAD
CA386150048
rs1230852969
69 P>L No ClinGen
TOPMed
gnomAD
TCGA novel 70 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386150038
rs1329466071
71 R>Q No ClinGen
gnomAD
rs778799257
CA386150039
71 R>W No ClinGen
ExAC
gnomAD
TCGA novel 73 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 74 H>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1381897376
CA386150018
74 H>R No ClinGen
gnomAD
rs570689172
CA6729610
77 I>T No ClinGen
1000Genomes
ExAC
gnomAD
CA386149992
rs1480128659
78 G>* No ClinGen
TOPMed
rs1447700576
CA386149975
80 S>R No ClinGen
gnomAD
CA6729607
rs376992444
83 S>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
CA386149958
COSM224437
rs376992444
83 S>F skin [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
gnomAD
rs755003543
CA6729606
84 F>I No ClinGen
ExAC
gnomAD
CA6729605
COSM72121
rs374368521
85 M>I ovary [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1164129259
CA386149946
85 M>T No ClinGen
TOPMed
CA6729604
rs758025003
86 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs964489103
CA242134252
86 A>T No ClinGen
Ensembl
rs758025003
CA386149939
86 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs370313291
CA242134251
87 M>L No ClinGen
ESP
TCGA novel 89 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs552400448
CA6729603
90 N>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1006761035
CA242134249
91 G>E No ClinGen
Ensembl
CA6729602
rs750634898
93 R>S No ClinGen
ExAC
TCGA novel 94 L>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6729590
rs527740398
95 D>G No ClinGen
1000Genomes
ExAC
gnomAD
rs1330361987
CA386149864
96 I>F No ClinGen
gnomAD
TCGA novel 105 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs769810739
CA6729587
108 E>* No ClinGen
ExAC
gnomAD
CA6729586
rs747038590
114 G>V No ClinGen
ExAC
gnomAD
CA386149729
rs1255684797
115 T>S No ClinGen
TOPMed
rs1156722207
CA386149687
121 Q>P No ClinGen
gnomAD
rs1210406371
CA386149665
125 G>S No ClinGen
TOPMed
CA386149648
rs1377960950
127 C>F No ClinGen
gnomAD
CA6729583
rs150389417
131 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1435117026
COSM944751
CA386149621
131 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs757610537
CA6729581
132 I>T No ClinGen
ExAC
gnomAD
CA6729582
rs140389429
132 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 133 H>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6729579
rs774829928
133 H>P No ClinGen
ExAC
TOPMed
gnomAD
rs774829928
CA6729580
133 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs753174173
CA6729577
135 R>Q No ClinGen
ExAC
gnomAD
rs756594307
CA6729578
135 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs982546674
CA242133302
138 M>V No ClinGen
TOPMed
rs1565814316
CA386149552
140 D>G No ClinGen
Ensembl
rs1565814316
CA386149551
140 D>V No ClinGen
Ensembl
CA386149554
rs1565814323
140 D>Y No ClinGen
Ensembl
rs977501072
CA242133060
141 L>I No ClinGen
Ensembl
TCGA novel 143 K>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386149533
rs1286704160
143 K>E No ClinGen
TOPMed
rs766112032
CA6729550
144 R>Q No ClinGen
ExAC
gnomAD
rs1340925840
CA386149525
144 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 146 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 148 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1401212081
CA386149473
152 R>I No ClinGen
TOPMed
gnomAD
CA386149469
rs1312537319
153 I>V No ClinGen
TOPMed
gnomAD
rs922721428
CA242133058
158 L>I No ClinGen
Ensembl
CA386149428
rs1430637302
159 E>K No ClinGen
gnomAD
CA6729548
rs773033573
161 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs374730051
CA242133056
162 Q>E No ClinGen
ESP
CA242133055
rs891517980
162 Q>H No ClinGen
TOPMed
CA386149381
rs965926562
165 S>R No ClinGen
TOPMed
gnomAD
rs761568376
CA6729546
166 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA919152363
rs1592719611
166 P>Q No ClinGen
Ensembl
rs776623055
CA6729545
167 P>L No ClinGen
ExAC
gnomAD
rs986037435
CA242133052
167 P>S No ClinGen
gnomAD
rs745922333
CA386149355
169 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA386149358
rs1565814237
169 D>G No ClinGen
Ensembl
CA6729542
rs372195794
171 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 171 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA242133051
rs927076982
172 M>V No ClinGen
Ensembl
rs1255337861
CA386149323
174 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA6729540
COSM243615
rs749444384
177 R>H Variant assessed as Somatic; 0.0 impact. endometrium prostate [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1468001811
CA386149262
182 S>T No ClinGen
gnomAD
CA6729506
rs778602583
183 E>D No ClinGen
ExAC
TOPMed
rs756806982
CA6729505
188 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1362220498
CA386149207
189 M>I No ClinGen
TOPMed
CA6729504
rs753558129
193 I>N No ClinGen
ExAC
gnomAD
rs1555200082
CA386149183
193 I>V No ClinGen
Ensembl
CA6729503
rs763809989
194 K>R No ClinGen
ExAC
gnomAD
rs1438747188
CA386149155
197 K>E No ClinGen
gnomAD
COSM550340
rs868731834
CA242131860
197 K>R lung [Cosmic] No ClinGen
cosmic curated
Ensembl
TCGA novel 199 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386149116
rs1239050298
201 G>S No ClinGen
TOPMed
rs1310738619
CA386149090
205 T>A No ClinGen
gnomAD
rs979113388
CA242131703
207 Y>F No ClinGen
gnomAD
CA6729480
rs550448348
207 Y>H No ClinGen
ExAC
gnomAD
CA6729479
rs751551629
209 G>E No ClinGen
ExAC
gnomAD
rs761968607
CA6729477
213 L>W No ClinGen
ExAC
gnomAD
rs776983203
CA6729476
214 T>A No ClinGen
ExAC
TOPMed
gnomAD
VAR_064743
rs764448325
CA6729475
COSM51864
214 T>I kidney found in a renal cell carcinoma sample; somatic mutation [Cosmic, UniProt] No ClinGen
cosmic curated
UniProt
ExAC
dbSNP
gnomAD
rs776983203
CA386149030
214 T>S No ClinGen
ExAC
TOPMed
gnomAD
COSM944748
CA6729474
rs761096642
215 E>D Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA6729472
rs772514443
223 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs936122698
CA242131702
224 R>Q No ClinGen
TOPMed
CA6729470
rs774935994
227 H>R No ClinGen
ExAC
gnomAD
rs770331583
CA6729469
234 T>K No ClinGen
ExAC
rs1457614784
CA386148818
244 D>N No ClinGen
gnomAD
TCGA novel 249 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747736482
CA6729447
251 V>I No ClinGen
ExAC
gnomAD
CA6729445
rs768326194
256 I>V No ClinGen
ExAC
gnomAD
CA6729442
rs758304893
264 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1565808142
CA386148642
269 Y>H No ClinGen
Ensembl
rs1465686754
CA386148635
270 L>V No ClinGen
gnomAD
TCGA novel 273 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1592710952
CA386148565
278 M>V No ClinGen
Ensembl
CA6729418
rs752863012
279 D>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 281 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781249265
CA6729417
284 I>V No ClinGen
ExAC
gnomAD
rs1303713191
CA386148513
285 M>V No ClinGen
gnomAD
rs1373727274
CA386148491
287 M>I No ClinGen
gnomAD
CA6729416
rs755180409
287 M>T No ClinGen
ExAC
gnomAD
CA6729415
rs200617439
288 H>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766700319
CA6729414
288 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA242131530
rs200617439
288 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6729413
rs528174296
289 N>D No ClinGen
1000Genomes
ExAC
gnomAD
CA6729410
rs761285086
290 V>A No ClinGen
ExAC
gnomAD
rs780953802
CA6729411
290 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs750829321
CA6729393
292 L>P No ClinGen
ExAC
gnomAD
rs1333863367
CA386148412
298 L>V No ClinGen
gnomAD
rs763598394
CA6729389
299 R>H No ClinGen
ExAC
gnomAD
CA386148385
rs1337674259
302 A>V No ClinGen
gnomAD
rs767316948
CA6729386
309 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA386148337
rs767316948
309 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs774240202
CA6729384
312 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 317 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386148267
rs1470925277
319 L>F No ClinGen
gnomAD
CA386148266
rs1361562325
319 L>R No ClinGen
gnomAD
CA6729380
rs768771361
320 L>F No ClinGen
ExAC
gnomAD
CA386148255
rs1565806894
321 I>T No ClinGen
Ensembl
CA6729379
rs376874963
322 N>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA242131299
rs866759671
325 G>E No ClinGen
Ensembl
CA242131300
rs866759671
325 G>V No ClinGen
Ensembl
rs1391239107
CA386148216
327 L>I No ClinGen
TOPMed
gnomAD
CA6729360
rs775502433
342 T>A No ClinGen
ExAC
rs1343777100
CA386100838
COSM72120
343 K>N ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
TCGA novel 345 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 351 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM944742
CA241461315
rs914300756
355 R>Q Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs779161958
CA6729357
355 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA6729356
rs530451291
356 P>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1420081610
CA386100751
357 P>A No ClinGen
gnomAD
rs1188180352
CA386100747
357 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1344728298
CA386100725
361 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 363 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs369822114
CA6729353
364 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs753288277
CA6729352
365 E>G No ClinGen
ExAC
gnomAD
rs780782161
CA6729351
366 Y>N No ClinGen
ExAC
gnomAD
CA386100678
rs1480949067
368 T>I No ClinGen
gnomAD
CA386100646
rs1369066004
CA386100648
372 M>I No ClinGen
TOPMed
rs1274368442
CA386100653
372 M>V No ClinGen
gnomAD
rs1392298554
CA386100621
374 G>D No ClinGen
TOPMed
gnomAD
rs1392298554
CA386100619
374 G>V No ClinGen
TOPMed
gnomAD
TCGA novel 377 C>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs559489001
CA241460257
383 A>P No ClinGen
1000Genomes
rs1373445002
CA386100531
387 P>H No ClinGen
gnomAD
CA6729337
rs749547046
393 T>A No ClinGen
ExAC
gnomAD
CA386100491
rs1324451500
393 T>I No ClinGen
gnomAD
CA6729335
rs147593071
394 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1415383864
CA386100425
403 R>* No ClinGen
gnomAD
CA386100424
rs1163127586
403 R>Q No ClinGen
TOPMed
gnomAD
CA386100409
COSM944741
rs1253898393
406 G>* Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs1268805072
CA386100394
406 G>V No ClinGen
TOPMed
rs747545805
CA6729309
410 Q>R No ClinGen
ExAC
gnomAD
CA6729307
rs145088718
414 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs745489790
CA6729306
418 S>P No ClinGen
ExAC
gnomAD
CA386100309
rs1174294574
419 N>K No ClinGen
gnomAD
CA386100311
rs1418188491
419 N>S No ClinGen
TOPMed
CA386100301
rs1437146310
420 E>D No ClinGen
gnomAD
CA6729303
rs753681868
426 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA386100247
rs1347536177
427 F>L No ClinGen
gnomAD
CA6729301
rs756004806
429 K>N No ClinGen
ExAC
gnomAD
rs1036485245
CA241459978
430 Y>C No ClinGen
TOPMed
rs752684063
CA386100231
430 Y>D No ClinGen
ExAC
gnomAD
CA6729300
rs752684063
430 Y>H No ClinGen
ExAC
gnomAD
CA6729296
rs773304458
432 P>L No ClinGen
ExAC
gnomAD
rs144440152
CA6729298
432 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144440152
CA241459973
432 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1592704363
CA386100186
437 N>T No ClinGen
Ensembl
rs1371848805
CA386100177
438 H>L No ClinGen
gnomAD
rs769179062
CA6729292
439 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA6729291
rs372519245
440 P>A No ClinGen
1000Genomes
ExAC
gnomAD
rs1399204422
CA386100108
446 G>E No ClinGen
TOPMed
gnomAD
CA386100107
rs1399204422
446 G>V No ClinGen
TOPMed
gnomAD
rs199873708
CA6729260
450 I>M No ClinGen
1000Genomes
ExAC
gnomAD
CA386100083
rs1455569083
450 I>V No ClinGen
gnomAD
rs370546877
CA6729259
455 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6729258
rs370546877
455 Q>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs548821735
CA6729257
455 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1158755658
CA606778582
456 Y>* No ClinGen
gnomAD
rs1010781980
CA241458102
456 Y>C No ClinGen
TOPMed
gnomAD
CA6729242
rs760020649
459 K>M No ClinGen
ExAC
TOPMed
gnomAD
rs1218517732
CA386100006
460 K>Q No ClinGen
TOPMed
rs60309851
CA241458091
461 R>K No ClinGen
Ensembl
rs1254693877
CA386099977
464 A>G No ClinGen
gnomAD
rs1450802570
CA386099957
467 A>T No ClinGen
gnomAD
rs1289487379
CA386099953
467 A>V No ClinGen
gnomAD
rs747780273
CA386099929
470 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1487719002
CA386099924
471 V>A No ClinGen
TOPMed
rs781003801
CA6729235
471 V>M No ClinGen
ExAC
rs746889872
CA6729232
473 F>Y No ClinGen
ExAC
gnomAD
rs1372298753
CA386099907
474 R>G No ClinGen
gnomAD
CA6729231
rs139401006
474 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1434813240
CA386099901
475 S>C No ClinGen
gnomAD
TCGA novel 475 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386099879
rs1592701999
478 P>L No ClinGen
Ensembl
TCGA novel 481 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1330879224
CA386099862
481 H>Y No ClinGen
gnomAD
CA6729230
rs757377695
482 A>P No ClinGen
ExAC
gnomAD
CA6729229
rs200312658
484 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs777841034
CA6729209
488 S>T No ClinGen
ExAC
gnomAD
COSM944738
rs200838762
CA6729208
489 I>V endometrium Variant assessed as Somatic; 4.64e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386099788
rs1158422443
490 F>L No ClinGen
TOPMed
CA241457333
rs748388690
491 S>C No ClinGen
ExAC
gnomAD
CA6729207
rs748388690
491 S>G No ClinGen
ExAC
gnomAD
rs1216743331
CA386099749
496 Q>E No ClinGen
gnomAD
rs1316417524
CA386099742
497 L>M No ClinGen
TOPMed
gnomAD
CA6729206
rs551427046
498 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
rs201195345
CA6729205
501 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs201195345
CA386099708
501 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6729202
rs200258723
502 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA6729203
rs200258723
502 G>D No ClinGen
ExAC
TOPMed
gnomAD
COSM274485
CA6729201
rs750936507
504 R>* Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA6729200
rs150884719
504 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6729199
rs761292224
506 S>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1565800317
CA386099526
515 K>N No ClinGen
Ensembl
CA386099503
rs1295331244
519 Q>K No ClinGen
gnomAD
TCGA novel 520 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA241457047
rs555077663
522 L>F No ClinGen
1000Genomes

No associated diseases with Q00537

3 regional properties for Q00537

Type Name Position InterPro Accession
domain Protein kinase domain 192 - 473 IPR000719
active_site Serine/threonine-protein kinase, active site 309 - 321 IPR008271
binding_site Protein kinase, ATP binding site 198 - 221 IPR017441

Functions

Description
EC Number 2.7.11.22 Protein-serine/threonine kinases
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.

4 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
cyclin-dependent protein serine/threonine kinase activity Cyclin-dependent catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.
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 serine kinase activity Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.

2 GO annotations of biological process

Name Definition
protein phosphorylation The process of introducing a phosphate group on to a protein.
regulation of transcription involved in G1/S transition of mitotic cell cycle Any process that regulates transcription such that the target genes are involved in the transition between G1 and S phase of the mitotic cell cycle.

20 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q00526 CDK3 Cyclin-dependent kinase 3 Homo sapiens (Human) PR
Q15131 CDK10 Cyclin-dependent kinase 10 Homo sapiens (Human) PR
Q9UQ88 CDK11A Cyclin-dependent kinase 11A Homo sapiens (Human) PR
Q96Q40 CDK15 Cyclin-dependent kinase 15 Homo sapiens (Human) PR
O94921 CDK14 Cyclin-dependent kinase 14 Homo sapiens (Human) PR
P49336 CDK8 Cyclin-dependent kinase 8 Homo sapiens (Human) PR
Q9BWU1 CDK19 Cyclin-dependent kinase 19 Homo sapiens (Human) PR
P50750 CDK9 Cyclin-dependent kinase 9 Homo sapiens (Human) PR
Q5MAI5 CDKL4 Cyclin-dependent kinase-like 4 Homo sapiens (Human) PR
Q00532 CDKL1 Cyclin-dependent kinase-like 1 Homo sapiens (Human) PR
Q92772 CDKL2 Cyclin-dependent kinase-like 2 Homo sapiens (Human) PR
Q8IZL9 CDK20 Cyclin-dependent kinase 20 Homo sapiens (Human) PR
P21127 CDK11B Cyclin-dependent kinase 11B Homo sapiens (Human) PR
O35495 Cdk14 Cyclin-dependent kinase 14 Mus musculus (Mouse) PR
Q8K0D0 Cdk17 Cyclin-dependent kinase 17 Mus musculus (Mouse) PR
O35831 Cdk17 Cyclin-dependent kinase 17 Rattus norvegicus (Rat) PR
Q5Z754 CDKF-1 Cyclin-dependent kinase F-1 Oryza sativa subsp japonica (Rice) PR
Q9S713 STN7 Serine/threonine-protein kinase STN7, chloroplastic Arabidopsis thaliana (Mouse-ear cress) PR
A4IIW7 cdk14 Cyclin-dependent kinase 14 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q1RLU9 cdk15 Cyclin-dependent kinase 15 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MKKFKRRLSL TLRGSQTIDE SLSELAEQMT IEENSSKDNE PIVKNGRPPT SHSMHSFLHQ
70 80 90 100 110 120
YTGSFKKPPL RRPHSVIGGS LGSFMAMPRN GSRLDIVHEN LKMGSDGESD QASGTSSDEV
130 140 150 160 170 180
QSPTGVCLRN RIHRRISMED LNKRLSLPAD IRIPDGYLEK LQINSPPFDQ PMSRRSRRAS
190 200 210 220 230 240
LSEIGFGKME TYIKLEKLGE GTYATVYKGR SKLTENLVAL KEIRLEHEEG APCTAIREVS
250 260 270 280 290 300
LLKDLKHANI VTLHDIVHTD KSLTLVFEYL DKDLKQYMDD CGNIMSMHNV KLFLYQILRG
310 320 330 340 350 360
LAYCHRRKVL HRDLKPQNLL INEKGELKLA DFGLARAKSV PTKTYSNEVV TLWYRPPDVL
370 380 390 400 410 420
LGSSEYSTQI DMWGVGCIFF EMASGRPLFP GSTVEDELHL IFRLLGTPSQ ETWPGISSNE
430 440 450 460 470 480
EFKNYNFPKY KPQPLINHAP RLDSEGIELI TKFLQYESKK RVSAEEAMKH VYFRSLGPRI
490 500 510 520
HALPESVSIF SLKEIQLQKD PGFRNSSYPE TGHGKNRRQS MLF