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

No accessory elements

Autoinhibited structure

Activated structure

3 structures for P14625

Entry ID Method Resolution Chain Position Source
4NH9 X-ray 277 A A 69-337 PDB
7ULL X-ray 231 A A/B 69-337 PDB
AF-P14625-F1 Predicted AlphaFoldDB

504 variants for P14625

Variant ID(s) Position Change Description Diseaes Association Provenance
rs200731731
CA6753280
2 R>K No ClinGen
1000Genomes
ExAC
gnomAD
rs367697851
CA6753282
2 R>S No ClinGen
ESP
ExAC
gnomAD
CA6753284
rs149528402
6 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs746813568
CA6753285
8 G>D No ClinGen
ExAC
gnomAD
rs560306771
CA386316198
9 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs560306771
CA6753286
9 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs866639231
CA242548158
10 C>* No ClinGen
Ensembl
rs1201598114
CA386316227
10 C>S No ClinGen
TOPMed
CA386316273
rs761866435
12 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA6753288
rs761866435
12 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1414682155
CA386316520
19 V>L No ClinGen
gnomAD
rs747864450
CA6753305
21 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA6753306
rs769897961
21 A>V No ClinGen
ExAC
gnomAD
rs773231799
CA6753307
22 D>E No ClinGen
ExAC
gnomAD
rs775421580
CA6753310
23 D>G No ClinGen
ExAC
gnomAD
rs759717800
CA6753308
23 D>N No ClinGen
ExAC
gnomAD
rs759717800
CA6753309
23 D>Y No ClinGen
ExAC
gnomAD
rs761026206
CA6753311
25 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA6753312
rs764191996
27 V>M No ClinGen
ExAC
gnomAD
CA6753313
rs777102409
28 D>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 30 T>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1320691429
CA386316670
31 V>I No ClinGen
gnomAD
rs1593486635
CA386316694
34 D>G No ClinGen
Ensembl
CA6753316
rs201068970
34 D>N No ClinGen
ExAC
gnomAD
CA242548506
rs201068970
34 D>Y No ClinGen
ExAC
gnomAD
TCGA novel 35 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 36 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1262949989
CA386316712
37 K>R No ClinGen
gnomAD
CA6753317
rs757919459
38 S>N No ClinGen
ExAC
gnomAD
rs765969582
CA6753318
39 R>K No ClinGen
ExAC
gnomAD
rs1593486657
CA386316734
40 E>G No ClinGen
Ensembl
CA386316750
rs1593486671
41 G>E No ClinGen
Ensembl
rs1238298711
CA386316822
46 D>V No ClinGen
gnomAD
CA386316835
rs1475171241
47 E>Q No ClinGen
gnomAD
rs1425862457
CA386316854
48 V>A No ClinGen
gnomAD
CA386316846
rs148706377
48 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6753319
CA6753320
rs148706377
48 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386316869
rs1171262903
49 V>G No ClinGen
gnomAD
rs780682319
CA6753321
49 V>I No ClinGen
ExAC
gnomAD
rs1412568996
CA386316875
50 Q>K No ClinGen
gnomAD
rs1387949086
CA386317936
52 E>K No ClinGen
gnomAD
rs576057501
CA6753355
59 D>G No ClinGen
1000Genomes
ExAC
gnomAD
CA386318089
rs1482744806
60 G>E No ClinGen
TOPMed
CA6753358
rs377222712
63 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1277061078
CA386318132
63 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA386318154
rs1245513133
65 Q>H No ClinGen
gnomAD
rs1273085634
CA386318169
66 I>M No ClinGen
TOPMed
CA386318174
rs1263799075
67 R>K No ClinGen
gnomAD
rs763817003
CA6753359
69 L>F No ClinGen
ExAC
gnomAD
rs762196975 71 E>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA6753363
rs372981677
73 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6753362
rs372981677
73 S>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs865844557
CA386318315
77 A>D No ClinGen
gnomAD
CA386318316
rs865844557
77 A>G No ClinGen
gnomAD
CA242548678
rs865844557
77 A>V No ClinGen
gnomAD
rs781314286
CA6753366
81 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs201119782
CA242548683
83 N>H No ClinGen
1000Genomes
TCGA novel 84 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs571691885
CA6753367
84 R>K No ClinGen
1000Genomes
ExAC
gnomAD
CA6753368
rs770047423
85 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA6753369
rs777918443
88 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs771132893
CA6753371
89 I>V No ClinGen
ExAC
gnomAD
CA6753372
rs774934129
90 I>V No ClinGen
ExAC
gnomAD
CA6753373
rs760017425
91 N>S No ClinGen
ExAC
gnomAD
CA386318640
rs1310873260
93 L>F No ClinGen
gnomAD
CA6753375
rs775190500
94 Y>H No ClinGen
ExAC
gnomAD
TCGA novel 100 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1253969163
CA386318945
101 L>P No ClinGen
gnomAD
CA6753393
rs776100889
104 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs1362809151
CA386319051
105 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs746522202
CA6753394
105 I>V No ClinGen
ExAC
gnomAD
TCGA novel 107 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768227408
CA6753395
109 S>F No ClinGen
ExAC
gnomAD
CA242548827
rs1022987363
112 L>S No ClinGen
Ensembl
CA386319175
rs1418208869
113 D>G No ClinGen
gnomAD
CA6753396
rs776271094
114 K>E No ClinGen
ExAC
gnomAD
rs761441712
CA6753397
115 I>R No ClinGen
ExAC
gnomAD
rs368880453
CA242548839
126 L>F No ClinGen
ESP
TOPMed
CA6753400
rs772925950
128 G>R No ClinGen
ExAC
CA6753402
rs766330879
130 E>* No ClinGen
ExAC
gnomAD
rs751430839
CA6753403
131 E>K No ClinGen
ExAC
rs1158190787
CA386319452
134 V>I No ClinGen
gnomAD
rs747580924
CA6753414
138 C>Y No ClinGen
ExAC
gnomAD
rs769283715
CA6753415
139 D>G No ClinGen
ExAC
gnomAD
CA386319714
rs1421696359
142 K>E No ClinGen
TOPMed
gnomAD
CA242549073
rs202077306
147 V>A No ClinGen
1000Genomes
TCGA novel 154 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6753417
rs747669144
160 V>L No ClinGen
ExAC
gnomAD
CA6753418
rs769352271
165 T>N No ClinGen
ExAC
gnomAD
CA6753420
rs762737984
166 I>M No ClinGen
ExAC
gnomAD
rs1308186605
CA386320188
166 I>V No ClinGen
gnomAD
CA386320290
rs774118680
172 S>R No ClinGen
ExAC
gnomAD
TCGA novel 173 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1320570659
CA386320296
173 E>Q No ClinGen
gnomAD
CA386320351
rs1218681745
176 N>K No ClinGen
gnomAD
rs1285595205
CA386320347
176 N>S No ClinGen
TOPMed
gnomAD
rs544086568
CA242549077
178 M>I No ClinGen
1000Genomes
CA386320372
rs1267789106
178 M>V No ClinGen
gnomAD
rs1489055240
CA386320397
179 T>I No ClinGen
gnomAD
CA386320398
rs1490573630
180 E>K No ClinGen
gnomAD
rs939432213
CA242549079
181 A>V No ClinGen
TOPMed
gnomAD
CA242549080
rs988217942
182 Q>K No ClinGen
TOPMed
gnomAD
rs1441852694
CA386320450
183 E>A No ClinGen
TOPMed
gnomAD
CA386320508
rs1179464633
187 S>T No ClinGen
gnomAD
rs913069286
CA242549085
192 I>V No ClinGen
TOPMed
rs201423886
CA242549088
199 F>L No ClinGen
1000Genomes
COSM1358304
CA6753429
rs368251601
202 A>T Variant assessed as Somatic; 9.24e-05 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 204 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200565749
CA242549094
204 L>P No ClinGen
1000Genomes
rs1309564146
CA386320846
205 V>I No ClinGen
gnomAD
CA386320875
rs1377941211
207 D>N No ClinGen
gnomAD
CA386320902
rs1177184303
208 K>E No ClinGen
TOPMed
rs1018491944
CA242549096
209 V>L No ClinGen
Ensembl
rs1226121528
CA386320955
210 I>N No ClinGen
gnomAD
CA6753430
rs780636706
211 V>I No ClinGen
ExAC
gnomAD
CA386321008
rs1322917989
215 H>Y No ClinGen
gnomAD
CA6753431
rs371098260
217 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6753433
rs781687324
218 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA6753436
rs777303569
221 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA242549118
rs1027315286
221 H>Y No ClinGen
Ensembl
TCGA novel 223 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs543216677
CA242549123
226 D>A No ClinGen
1000Genomes
rs567564451
CA6753437
228 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA6753438
rs770564119
229 E>A No ClinGen
ExAC
gnomAD
CA6753439
rs770564119
229 E>V No ClinGen
ExAC
gnomAD
CA242549140
rs950510474
230 F>Y No ClinGen
Ensembl
rs1348464856
CA386321263
232 V>I No ClinGen
TOPMed
CA242549146
rs199621152
233 I>T No ClinGen
1000Genomes
TOPMed
gnomAD
CA6753441
rs771936228
234 A>V No ClinGen
ExAC
gnomAD
rs775431470
CA6753442
236 P>S No ClinGen
ExAC
gnomAD
CA386321303
rs1358232704
238 G>E No ClinGen
gnomAD
TCGA novel 239 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386321321
rs372511163
241 L>V No ClinGen
gnomAD
CA6753445
rs750530495
243 R>Q No ClinGen
ExAC
gnomAD
CA386321332
rs1355509772
243 R>W No ClinGen
gnomAD
rs971274341
CA242549163
245 T>M No ClinGen
gnomAD
CA386321351
rs1278344637
246 T>K No ClinGen
gnomAD
CA6753448
rs751992055
248 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA386321896
rs1193775773
250 V>I No ClinGen
gnomAD
rs751759985
CA6753465
252 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1329706753
CA386321980
254 E>A No ClinGen
TOPMed
CA6753466
rs759828460
254 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA386321999
rs1566166115
255 A>S No ClinGen
Ensembl
CA6753467
rs767982403
255 A>V No ClinGen
ExAC
gnomAD
rs201596968
CA6753468
256 S>F No ClinGen
1000Genomes
ExAC
gnomAD
CA386322030
rs1357381212
257 D>N No ClinGen
TOPMed
gnomAD
TCGA novel 257 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1361861386
CA386322078
258 Y>C No ClinGen
gnomAD
CA6753470
rs764484359
259 L>R No ClinGen
ExAC
gnomAD
CA386322153
rs1323504068
262 D>G No ClinGen
gnomAD
rs946752566
CA386322170
263 T>I No ClinGen
TOPMed
gnomAD
rs946752566
CA242550046
263 T>K No ClinGen
TOPMed
gnomAD
rs145871780
CA6753471
264 I>M No ClinGen
ESP
ExAC
TOPMed
rs935214769
CA242550050
264 I>V No ClinGen
TOPMed
gnomAD
CA6753472
rs375719261
268 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 270 K>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778550399
CA6753473
270 K>R No ClinGen
ExAC
gnomAD
CA386322353
rs1311612957
273 Q>L No ClinGen
gnomAD
rs747605736
COSM691526
CA242550089
274 F>L lung [Cosmic] No ClinGen
cosmic curated
Ensembl
rs779943844
CA242550095
275 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA6753476
rs779943844
275 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA6753477
rs746760626
280 Y>S No ClinGen
ExAC
TOPMed
gnomAD
CA6753479
rs776666589
281 V>I No ClinGen
ExAC
gnomAD
CA6753480
rs749380659
282 W>* No ClinGen
ExAC
gnomAD
CA242550354
rs967955765
286 T>I No ClinGen
TOPMed
rs1186299039
CA386322798
288 T>A No ClinGen
gnomAD
rs1366197850
CA386322843
290 E>A No ClinGen
gnomAD
CA386322875
rs956521013
291 E>D No ClinGen
TOPMed
rs1474084119
CA386322886
292 P>H No ClinGen
gnomAD
CA386322910
rs1464422980
293 M>I No ClinGen
gnomAD
rs144242572
CA6753493
293 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA386322950
rs754659333
296 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs754659333
CA6753496
296 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs781283473
CA6753497
297 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs1275208080
CA386322970
298 A>T No ClinGen
TOPMed
rs1235232144
CA386322991
300 K>E No ClinGen
TOPMed
rs368915159
CA6753498
300 K>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA386322997
rs1293862440
301 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA386323020
rs769849088
302 E>* No ClinGen
ExAC
gnomAD
CA386323024
rs922226216
302 E>G No ClinGen
TOPMed
gnomAD
CA6753500
rs769849088
302 E>K No ClinGen
ExAC
gnomAD
CA242550375
rs922226216
302 E>V No ClinGen
TOPMed
gnomAD
CA6753502
rs745913051
303 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1361931233
CA386323056
305 E>K No ClinGen
TOPMed
rs1445926074
CA386323085
307 D>N No ClinGen
TOPMed
gnomAD
CA6753504
rs200904772
313 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6753505
rs200904772
313 E>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs540321497
CA242550390
315 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs540321497
CA6753508
315 E>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs1445475737
CA386323258
316 E>G No ClinGen
TOPMed
gnomAD
TCGA novel 318 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1263111731
CA386323305
319 K>E No ClinGen
gnomAD
CA242550393
rs953501914
319 K>T No ClinGen
Ensembl
CA6753509
rs116891695
321 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 322 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA242550404
rs941504253
322 K>Q No ClinGen
TOPMed
gnomAD
rs762350787
CA386323432
325 K>N No ClinGen
ExAC
gnomAD
rs762534225
CA6753536
326 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 326 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1298850817
CA386323476
327 E>G No ClinGen
TOPMed
gnomAD
rs1372804988
CA386323491
329 T>S No ClinGen
gnomAD
CA386323513
rs1444317491
332 D>E No ClinGen
TOPMed
CA6753537
rs765860662
332 D>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 334 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751073447
CA6753538
336 M>T No ClinGen
ExAC
gnomAD
rs759301090
CA6753539
338 D>G No ClinGen
ExAC
gnomAD
CA386323554
rs1350887733
338 D>N No ClinGen
gnomAD
rs1261827213
CA386323566
339 I>T No ClinGen
gnomAD
rs1381329965
CA386323581
341 P>L No ClinGen
TOPMed
CA386323583
rs1177091776
342 I>V No ClinGen
gnomAD
rs879150773
CA242550866
343 W>S No ClinGen
Ensembl
CA6753540
rs767254008
344 Q>L No ClinGen
ExAC
gnomAD
CA6753541
rs752562529
346 P>L No ClinGen
ExAC
gnomAD
rs1178235071
CA386323650
351 E>D No ClinGen
gnomAD
rs1454903094 352 E>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 352 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1378649747
CA386323659
352 E>D No ClinGen
gnomAD
CA386323652
rs1436578733
352 E>K No ClinGen
TOPMed
rs375594636
CA6753543
353 D>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386323665
rs1364328926
353 D>E No ClinGen
TOPMed
gnomAD
CA6753542
rs755932488
353 D>N No ClinGen
ExAC
gnomAD
rs753778542
CA6753544
354 E>A No ClinGen
ExAC
gnomAD
TCGA novel 355 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1289815497
CA386323685
356 K>R No ClinGen
TOPMed
CA386323693
rs1340161527
357 A>G No ClinGen
gnomAD
CA386323697
rs1396378121
358 F>V No ClinGen
gnomAD
rs1400817670
CA386323706
359 Y>C No ClinGen
TOPMed
gnomAD
rs1354079125
CA386323704
359 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA386323715
rs1023202465
360 K>I No ClinGen
gnomAD
rs1023202465
CA242550885
360 K>R No ClinGen
gnomAD
CA386323741
rs1374110784
364 K>T No ClinGen
gnomAD
rs1417090011
CA386324282
366 S>G No ClinGen
gnomAD
CA6753566
rs765175597
367 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA386324334
rs1170738721
373 I>V No ClinGen
gnomAD
CA386324346
rs1385298900
374 H>Q No ClinGen
TOPMed
rs913376058
CA242551646
374 H>Y No ClinGen
Ensembl
rs751672357
CA6753567
377 A>G No ClinGen
ExAC
gnomAD
rs781410380
CA6753569
383 F>L No ClinGen
ExAC
gnomAD
CA386324450
rs1399931391
385 S>T No ClinGen
gnomAD
rs1566167114
CA386324457
386 I>T No ClinGen
Ensembl
CA6753570
rs748423891
386 I>V No ClinGen
ExAC
gnomAD
CA386324468
rs1364548094
388 F>L No ClinGen
gnomAD
CA6753571
rs756351032
389 V>I No ClinGen
ExAC
gnomAD
TCGA novel 391 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749641452
CA6753573
391 T>S No ClinGen
ExAC
gnomAD
TCGA novel 393 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs141254870
CA6753575
395 R>H No ClinGen
ESP
ExAC
gnomAD
rs1215782880
CA386324547
397 L>P No ClinGen
gnomAD
CA386324562
rs1319810115
398 F>L No ClinGen
TOPMed
CA6753577
rs768456646
399 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA6753580
rs374437641
400 E>K No ClinGen
ESP
ExAC
gnomAD
CA6753579
rs374437641
400 E>Q No ClinGen
ESP
ExAC
gnomAD
TCGA novel 405 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1375491950
CA386324671
407 D>N No ClinGen
gnomAD
CA6753583
rs377747819
409 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1219171564
CA386324807
412 Y>C No ClinGen
TOPMed
gnomAD
rs1283442344
CA386324819
413 V>M No ClinGen
gnomAD
CA6753601
rs368374645
COSM1358305
414 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6753602
rs535356548
414 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs769691480
CA6753603
415 R>C No ClinGen
ExAC
gnomAD
CA386324853
rs1443504979
415 R>H No ClinGen
TOPMed
gnomAD
TCGA novel 416 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA242551764
rs564418201
420 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6753605
rs762914379
420 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA386324981
rs752793223
421 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs752793223
CA6753607
COSM1746692
421 D>N urinary_tract [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs760767560
CA6753608
423 H>Y No ClinGen
ExAC
gnomAD
CA6753610
rs754033382
425 M>T No ClinGen
ExAC
gnomAD
rs1380790566
CA386325172
430 L>V No ClinGen
gnomAD
CA242551785
rs866621254
431 N>K No ClinGen
Ensembl
TCGA novel 431 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779460770
CA6753612
435 G>D No ClinGen
ExAC
gnomAD
TCGA novel 444 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 448 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1423322869
CA386325443
450 T>A No ClinGen
gnomAD
CA386325533
rs1169896225
457 L>R No ClinGen
gnomAD
CA6753657
rs755552464
463 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs748998107
CA6753659
466 R>C No ClinGen
ExAC
gnomAD
CA242552281
rs938232098
466 R>H No ClinGen
TOPMed
CA242552284
rs772910819
468 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA6753661
rs778817387
471 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA6753662
rs146962447
473 K>T No ClinGen
ESP
ExAC
TOPMed
TCGA novel 477 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772079656
CA6753663
478 D>N No ClinGen
ExAC
gnomAD
rs1468251983
CA386326741
479 K>E No ClinGen
gnomAD
CA6753665
rs748255104
481 N>S No ClinGen
ExAC
gnomAD
CA6753666
rs770060582
482 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs148024900
CA6753667
483 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA242552307
rs749624178
486 K>E No ClinGen
Ensembl
CA6753668
rs763311324
486 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1434063039
CA386326878
488 F>L No ClinGen
TOPMed
CA386326908
rs1318897721
490 T>I No ClinGen
TOPMed
rs1008206764
CA242552313
494 L>F No ClinGen
Ensembl
CA6753670
rs774797218
497 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA6753669
rs766483420
497 I>V No ClinGen
ExAC
gnomAD
rs1323479949
CA386327010
499 D>N No ClinGen
gnomAD
CA6753671
rs759775976
500 H>P No ClinGen
ExAC
gnomAD
CA386327052
rs1441073648
501 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA386327054
rs1441073648
501 S>W No ClinGen
gnomAD
CA6753673
COSM934196
rs753142679
503 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA242552329
rs1020103855
505 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs964195316
CA242552333
505 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1426851082
CA386327102
506 L>V No ClinGen
TOPMed
rs374505761
CA6753674
508 K>E No ClinGen
ESP
ExAC
gnomAD
CA242552340
rs997420214
508 K>T No ClinGen
Ensembl
rs1193244585
CA386327154
509 L>F No ClinGen
TOPMed
TCGA novel 514 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386327235
rs1593491570
518 P>S No ClinGen
Ensembl
rs548726780
CA242552365
522 T>A No ClinGen
1000Genomes
TOPMed
gnomAD
CA386327318
rs1165775955
523 S>G No ClinGen
TOPMed
gnomAD
rs372371380
CA386327391
526 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1162506371
CA386327427
528 V>A No ClinGen
gnomAD
rs983044082
CA242552372
528 V>M No ClinGen
gnomAD
CA386327509
rs1441179893
532 K>Q No ClinGen
gnomAD
CA6753679
rs559401907
533 E>D No ClinGen
1000Genomes
ExAC
gnomAD
rs34482425
CA242552384
534 K>N No ClinGen
Ensembl
rs758073589
CA6753680
534 K>R No ClinGen
ExAC
gnomAD
CA386327597
rs1392559370
537 K>E No ClinGen
gnomAD
rs1355328251
CA386327607
537 K>N No ClinGen
gnomAD
rs1308375520
CA386327603
537 K>R No ClinGen
gnomAD
CA6753681
rs528169940
538 I>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs765949732
CA6753683
541 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA6753686
rs771213027
547 K>R No ClinGen
ExAC
gnomAD
CA242552409
rs113326059
548 E>G No ClinGen
Ensembl
rs1485338698
CA386327825
549 A>T No ClinGen
gnomAD
CA242552515
rs1041090731
550 E>Q No ClinGen
Ensembl
rs899875096
CA242552519
553 P>T No ClinGen
Ensembl
TCGA novel 554 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386327880
rs1323473420
557 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs373394058
CA6753700
557 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs996947731
CA386327889
558 L>F No ClinGen
gnomAD
CA242552523
rs996947731
558 L>I No ClinGen
gnomAD
CA242552527
rs945371051
560 K>R No ClinGen
TOPMed
rs754983817
CA6753701
561 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs781232223
CA6753702
563 Y>C No ClinGen
ExAC
TOPMed
TCGA novel 565 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 567 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6753704
rs770860797
568 L>F No ClinGen
ExAC
gnomAD
rs779039753
CA6753705
569 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA386328200
rs1458843568
577 I>F No ClinGen
TOPMed
rs952874243
CA242552543
579 A>V No ClinGen
Ensembl
rs772306767
COSM1706178
CA6753707
581 P>L skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA242552546
rs903938928
581 P>S No ClinGen
TOPMed
CA6753710
COSM1210055
rs769155096
582 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA242552562
rs763298993
588 F>L No ClinGen
gnomAD
rs1319483638
CA386328402
591 V>L No ClinGen
gnomAD
rs762366467
CA6753712
592 A>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA386328437
rs1229397712
593 K>E No ClinGen
gnomAD
CA6753714
rs749915295
597 K>N No ClinGen
ExAC
gnomAD
CA6753715
rs762557855
598 F>V No ClinGen
ExAC
gnomAD
CA6753717
rs751434474
600 E>D No ClinGen
ExAC
gnomAD
CA242552581
COSM109200
rs143727498
601 S>N skin [Cosmic] No ClinGen
cosmic curated
gnomAD
CA6753718
rs754755916
603 K>E No ClinGen
ExAC
gnomAD
rs1188817127
CA386328656
606 E>D No ClinGen
gnomAD
CA6753719
rs141744749
606 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6753720
rs752636677
608 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs756076475
CA6753721
608 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA386328755
rs1566167719
611 V>A No ClinGen
Ensembl
CA242552597
rs567003190
611 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
rs778900551
CA6753722
614 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA6753723
rs757332238
616 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1347335308
CA386328902
620 N>S No ClinGen
gnomAD
rs1325518885
CA386328933
621 W>L No ClinGen
gnomAD
CA6753725
rs780183351
622 M>T No ClinGen
ExAC
gnomAD
rs1289744291
CA386328957
622 M>V No ClinGen
TOPMed
CA386329040
rs1226190814
624 D>A No ClinGen
TOPMed
CA6753727
rs747385288
627 L>F No ClinGen
ExAC
CA6753728
rs114330942
629 D>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1387737442
CA386329191
630 K>* No ClinGen
TOPMed
CA386329397
rs1343337431
633 K>N No ClinGen
TOPMed
rs1463205499
CA386329411
634 A>T No ClinGen
gnomAD
CA6753736
rs759251898
634 A>V No ClinGen
ExAC
gnomAD
CA6753738
rs752506564
636 V>A No ClinGen
ExAC
gnomAD
rs377323380
CA6753737
636 V>M No ClinGen
ESP
ExAC
gnomAD
TCGA novel 637 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1277290411
CA386329479
637 S>F No ClinGen
TOPMed
CA242552810
rs562235742
639 R>C No ClinGen
ExAC
gnomAD
rs1021322098
CA242552814
639 R>H No ClinGen
gnomAD
CA6753739
rs562235742
639 R>S No ClinGen
ExAC
gnomAD
rs1332303824
CA386329568
641 T>I No ClinGen
gnomAD
rs141949667
CA242552833
642 E>D No ClinGen
ESP
TOPMed
gnomAD
rs754939231
CA6753743
644 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6753745
rs200619766
649 A>P No ClinGen
ExAC
gnomAD
rs770239470
CA6753749
653 G>A No ClinGen
ExAC
gnomAD
CA6753748
rs748492752
653 G>R No ClinGen
ExAC
gnomAD
CA6753750
rs773705690
655 S>A No ClinGen
ExAC
gnomAD
rs1566167847
CA386329752
655 S>C No ClinGen
Ensembl
CA242552870
rs3209749
657 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs748763994
CA6753751
657 N>S No ClinGen
ExAC
gnomAD
CA6753752
rs770625043
658 M>T No ClinGen
ExAC
gnomAD
rs1593492108
CA386329815
659 E>G No ClinGen
Ensembl
rs924455319
CA242552884
661 I>L No ClinGen
Ensembl
rs1593492114
CA386329872
662 M>K No ClinGen
Ensembl
rs767257687
CA6753755
669 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA386330053
rs1284448868
672 D>N No ClinGen
gnomAD
CA6753757
rs760451741
673 I>V No ClinGen
ExAC
gnomAD
CA386330123
rs1193613717
675 T>I No ClinGen
gnomAD
CA386330133
rs1305995754
676 N>T No ClinGen
TOPMed
rs373656293
CA242557329
679 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
CA386331685
rs367709041
680 S>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs367709041
CA6753784
680 S>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 681 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778242700
CA6753785
681 Q>P No ClinGen
ExAC
gnomAD
rs144295543
CA6753786
684 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs577690613
CA6753787
689 P>S No ClinGen
ExAC
gnomAD
CA386331804
rs1365409333
690 R>K No ClinGen
gnomAD
CA6753789
rs372636341
692 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs768168995
CA6753793
694 I>T No ClinGen
ExAC
gnomAD
rs980541195
CA242557350
695 R>K No ClinGen
Ensembl
CA6753795
rs776430209
695 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA6753796
rs553845953
696 D>E No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 699 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM934198
rs769723826
CA6753797
699 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386331906
rs773080167
700 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs773080167
CA6753798
700 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs374724193
CA242557357
701 I>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374724193
CA6753799
701 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs962400260
CA386331930
702 K>N No ClinGen
TOPMed
CA242557391
rs956056573
705 E>A No ClinGen
TOPMed
CA242557389
rs200307600
705 E>K No ClinGen
1000Genomes
rs780752923
CA6753816
706 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA242557396
rs780752923
706 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA6753817
rs747953980
708 K>I No ClinGen
ExAC
gnomAD
CA6753818
rs769638805
709 T>A No ClinGen
ExAC
gnomAD
CA386332053
rs1375463361
709 T>I No ClinGen
TOPMed
TCGA novel 709 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386332079
rs1434244856
712 D>N No ClinGen
gnomAD
rs943439192
CA242557400
713 L>P No ClinGen
Ensembl
TCGA novel 714 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6753819
rs555733986
716 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6753820
rs749290700
718 F>S No ClinGen
ExAC
gnomAD
rs1289464030
CA386332202
719 E>Q No ClinGen
gnomAD
rs1355227279
CA386332246
722 T>A No ClinGen
gnomAD
CA242557405
rs576372064
722 T>M No ClinGen
1000Genomes
gnomAD
rs760632547
CA386332267
724 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA6753823
rs760632547
724 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs770752783
CA6753821
COSM1746693
724 R>W Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA386332287
rs1298442971
726 G>W No ClinGen
gnomAD
CA6753824
rs764417541
729 L>F No ClinGen
ExAC
gnomAD
rs765735543
CA6753827
734 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs369072974
CA6753828
735 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766753059
CA6753830
737 D>Y No ClinGen
ExAC
gnomAD
CA386332581
rs1424025856
741 R>S No ClinGen
gnomAD
rs751081426
CA6753831
744 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs754385043
CA6753832
744 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA6753834
rs188648559
747 L>F No ClinGen
1000Genomes
ExAC
CA6753835
rs142406645
748 N>K No ClinGen
ESP
ExAC
gnomAD
CA386332775
rs1375321125
750 D>E No ClinGen
gnomAD
rs748988664
CA6753837
752 D>V No ClinGen
ExAC
gnomAD
CA386332816
rs1380248702
753 A>S No ClinGen
gnomAD
rs1381846115
CA386332820
753 A>V No ClinGen
gnomAD
CA386332835
rs1220841786
754 K>M No ClinGen
TOPMed
gnomAD
CA386332825
rs1566168803
754 K>Q No ClinGen
Ensembl
rs1302766405
CA386332858
755 V>L No ClinGen
gnomAD
rs767056897
CA6753853
756 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs767056897
CA386332862
756 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6753855
rs755787354
758 E>G No ClinGen
ExAC
gnomAD
CA6753857
rs753671495
760 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA242557546
rs140225827
761 E>G No ClinGen
ESP
TOPMed
CA386332910
rs1593493780
762 E>D No ClinGen
Ensembl
rs376271632
CA6753858
763 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1238823762
CA386332925
765 E>K No ClinGen
TOPMed
rs1371151116
CA386332938
766 T>I No ClinGen
TOPMed
rs200650067
CA242557550
767 A>E No ClinGen
Ensembl
rs370313687
CA6753860
767 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
rs1476720153
CA386332946
768 E>G No ClinGen
gnomAD
rs745833035
CA6753861
768 E>K No ClinGen
ExAC
gnomAD
CA6753862
rs776861206
769 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA386332961
rs1420772924
770 T>I No ClinGen
TOPMed
rs1426437528
CA386332958
770 T>P No ClinGen
gnomAD
CA242557561
rs569291244
771 T>A No ClinGen
1000Genomes
TOPMed
rs781442255
CA6753863
771 T>I No ClinGen
ExAC
rs1036233143
CA242557563
772 E>A No ClinGen
TOPMed
CA6753864
rs748195956
773 D>N No ClinGen
ExAC
gnomAD
CA6753865
rs770142573
774 T>A No ClinGen
ExAC
gnomAD
CA386332983
rs535057154
774 T>I No ClinGen
1000Genomes
ExAC
gnomAD
rs535057154
CA6753866
774 T>K No ClinGen
1000Genomes
ExAC
gnomAD
rs1348210757
CA386332991
775 E>D No ClinGen
TOPMed
gnomAD
TCGA novel 775 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760087578
COSM934200
CA6753870
778 E>K Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6753871
rs767966985
780 E>* No ClinGen
ExAC
gnomAD
rs1245850445
CA386333032
780 E>D No ClinGen
TOPMed
TCGA novel 782 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs144178041
CA6753872
782 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1286221590
CA386333051
783 D>H No ClinGen
TOPMed
gnomAD
rs760113921
CA6753873
785 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1272069908 787 D>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA386333090
CA386333089
rs1223103257
788 E>D No ClinGen
gnomAD
TCGA novel 788 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA242557586
rs910493716
790 E>K No ClinGen
gnomAD
rs910493716
CA242557588
790 E>Q No ClinGen
gnomAD
rs763820579
CA6753875
791 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA242557591
rs199613394
791 E>K No ClinGen
Ensembl
rs199613394
CA242557593
791 E>Q No ClinGen
Ensembl
rs753493088
CA6753876
794 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA242557654
rs372146745
795 E>A No ClinGen
gnomAD
rs1356183173
CA386333145
795 E>D No ClinGen
TOPMed
gnomAD
rs1333261091
CA386333158
797 T>I No ClinGen
gnomAD
CA6753904
rs751610640
798 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs751610640
CA386333159
798 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA386333164
rs1472159708
799 E>K No ClinGen
TOPMed
rs777767051
CA6753906
801 D>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386333189
rs1340884541
802 E>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 803 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA

No associated diseases with P14625

3 regional properties for P14625

Type Name Position InterPro Accession
domain Histidine kinase/HSP90-like ATPase 96 - 255 IPR003594
conserved_site Heat shock protein Hsp90, conserved site 94 - 103 IPR019805
domain Heat shock protein Hsp90, N-terminal 74 - 279 IPR020575

Functions

Description
EC Number
Subcellular Localization
  • Endoplasmic reticulum lumen
  • Sarcoplasmic reticulum lumen
  • Melanosome
  • Identified by mass spectrometry in melanosome fractions from stage I to stage IV
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

18 GO annotations of cellular component

Name Definition
collagen-containing extracellular matrix An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endocytic vesicle lumen The volume enclosed by the membrane of an endocytic vesicle.
endoplasmic reticulum The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum chaperone complex A protein complex that is located in the endoplasmic reticulum and is composed of chaperone proteins, including BiP, GRP94; CaBP1, protein disulfide isomerase (PDI), ERdj3, cyclophilin B, ERp72, GRP170, UDP-glucosyltransferase, and SDF2-L1.
endoplasmic reticulum lumen The volume enclosed by the membranes of the endoplasmic reticulum.
endoplasmic reticulum membrane The lipid bilayer surrounding the endoplasmic reticulum.
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
extracellular region The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
focal adhesion A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
melanosome A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
midbody A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis.
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.
protein-containing complex A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.
sarcoplasmic reticulum lumen The volume enclosed by the membranes of the sarcoplasmic reticulum.
sperm plasma membrane A plasma membrane that is part of a sperm cell.

8 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
ATP-dependent protein folding chaperone Binding to a protein or a protein-containing complex to assist the protein folding process, driven by ATP hydrolysis.
calcium ion binding Binding to a calcium ion (Ca2+).
low-density lipoprotein particle receptor binding Binding to a low-density lipoprotein receptor.
protein phosphatase binding Binding to a protein phosphatase.
RNA binding Binding to an RNA molecule or a portion thereof.
unfolded protein binding Binding to an unfolded protein.

12 GO annotations of biological process

Name Definition
actin rod assembly The assembly of actin rods, a cellular structure consisting of parallel, hexagonally arranged actin tubules.
cellular response to ATP Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ATP (adenosine 5'-triphosphate) stimulus.
negative regulation of apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
protein folding The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure.
protein folding in endoplasmic reticulum A protein folding process that takes place in the endoplasmic reticulum (ER). Secreted, plasma membrane and organelle proteins are folded in the ER, assisted by chaperones and foldases (protein disulphide isomerases), and additional factors required for optimal folding (ATP, Ca2+ and an oxidizing environment to allow disulfide bond formation).
protein transport The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
regulation of phosphoprotein phosphatase activity Any process that modulates the frequency, rate or extent of phosphoprotein phosphatase activity, the catalysis of the hydrolysis of phosphate from a phosphoprotein.
response to endoplasmic reticulum stress Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stress acting at the endoplasmic reticulum. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen.
response to hypoxia 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 stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level.
retrograde protein transport, ER to cytosol The directed movement of unfolded or misfolded proteins from the endoplasmic reticulum to the cytosol through the translocon.
sequestering of calcium ion The process of binding or confining calcium ions such that they are separated from other components of a biological system.
ubiquitin-dependent ERAD pathway The series of steps necessary to target endoplasmic reticulum (ER)-resident proteins for degradation by the cytoplasmic proteasome. Begins with recognition of the ER-resident protein, includes retrotranslocation (dislocation) of the protein from the ER to the cytosol, protein ubiquitination necessary for correct substrate transfer, transport of the protein to the proteasome, and ends with degradation of the protein by the cytoplasmic proteasome.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P08113 Hsp90b1 Endoplasmin Mus musculus (Mouse) PR
Q66HD0 Hsp90b1 Endoplasmin Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MRALWVLGLC CVLLTFGSVR ADDEVDVDGT VEEDLGKSRE GSRTDDEVVQ REEEAIQLDG
70 80 90 100 110 120
LNASQIRELR EKSEKFAFQA EVNRMMKLII NSLYKNKEIF LRELISNASD ALDKIRLISL
130 140 150 160 170 180
TDENALSGNE ELTVKIKCDK EKNLLHVTDT GVGMTREELV KNLGTIAKSG TSEFLNKMTE
190 200 210 220 230 240
AQEDGQSTSE LIGQFGVGFY SAFLVADKVI VTSKHNNDTQ HIWESDSNEF SVIADPRGNT
250 260 270 280 290 300
LGRGTTITLV LKEEASDYLE LDTIKNLVKK YSQFINFPIY VWSSKTETVE EPMEEEEAAK
310 320 330 340 350 360
EEKEESDDEA AVEEEEEEKK PKTKKVEKTV WDWELMNDIK PIWQRPSKEV EEDEYKAFYK
370 380 390 400 410 420
SFSKESDDPM AYIHFTAEGE VTFKSILFVP TSAPRGLFDE YGSKKSDYIK LYVRRVFITD
430 440 450 460 470 480
DFHDMMPKYL NFVKGVVDSD DLPLNVSRET LQQHKLLKVI RKKLVRKTLD MIKKIADDKY
490 500 510 520 530 540
NDTFWKEFGT NIKLGVIEDH SNRTRLAKLL RFQSSHHPTD ITSLDQYVER MKEKQDKIYF
550 560 570 580 590 600
MAGSSRKEAE SSPFVERLLK KGYEVIYLTE PVDEYCIQAL PEFDGKRFQN VAKEGVKFDE
610 620 630 640 650 660
SEKTKESREA VEKEFEPLLN WMKDKALKDK IEKAVVSQRL TESPCALVAS QYGWSGNMER
670 680 690 700 710 720
IMKAQAYQTG KDISTNYYAS QKKTFEINPR HPLIRDMLRR IKEDEDDKTV LDLAVVLFET
730 740 750 760 770 780
ATLRSGYLLP DTKAYGDRIE RMLRLSLNID PDAKVEEEPE EEPEETAEDT TEDTEQDEDE
790 800
EMDVGTDEEE ETAKESTAEK DEL