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

16 structures for P11387

Entry ID Method Resolution Chain Position Source
1A31 X-ray 210 A A 175-765 PDB
1A35 X-ray 250 A A 175-765 PDB
1A36 X-ray 280 A A 175-765 PDB
1EJ9 X-ray 260 A A 203-765 PDB
1K4S X-ray 320 A A 174-765 PDB
1K4T X-ray 210 A A 174-765 PDB
1LPQ X-ray 314 A A 202-765 PDB
1NH3 X-ray 310 A A 203-765 PDB
1R49 X-ray 313 A A 174-765 PDB
1RR8 X-ray 260 A C 203-765 PDB
1RRJ X-ray 230 A A 201-765 PDB
1SC7 X-ray 300 A A 174-765 PDB
1SEU X-ray 300 A A 174-765 PDB
1T8I X-ray 300 A A 174-765 PDB
1TL8 X-ray 310 A A 174-765 PDB
AF-P11387-F1 Predicted AlphaFoldDB

323 variants for P11387

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV001291503
rs2034059953
406 H>L Autism spectrum disorder [ClinVar] Yes ClinVar
dbSNP
rs121434562
CA126870
RCV000018262
418 E>K DNA topoisomerase I, camptothecin-resistant [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000018261
CA083614
rs267607131
VAR_007530
533 D>G DNA topoisomerase I, camptothecin-resistant CPT-resistant leukemia [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV000018261
rs267607132
583 G>= DNA topoisomerase I, camptothecin-resistant [ClinVar] Yes ClinVar
dbSNP
CA9857879
rs769782931
4 D>E No ClinGen
ExAC
gnomAD
rs773299206
CA9857880
6 L>F No ClinGen
ExAC
gnomAD
rs771124146
CA9857882
7 H>R No ClinGen
ExAC
gnomAD
CA9857905
rs772450250
12 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA314899987
rs1035670825
12 I>V No ClinGen
TOPMed
rs1209375262
CA408942230
14 A>V No ClinGen
TOPMed
gnomAD
rs1287804312
CA408942233
15 D>Y No ClinGen
gnomAD
rs761127035
CA408942249
17 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs761127035
CA9857907
17 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA9857908
rs764649035
19 N>I No ClinGen
ExAC
TOPMed
gnomAD
CA314454887
rs958350596
22 H>R No ClinGen
TOPMed
CA314454879
rs939788315
22 H>Y No ClinGen
Ensembl
rs1396729231
CA408901338
23 K>N No ClinGen
TOPMed
rs1302095474
CA408901386
25 K>R No ClinGen
TOPMed
rs1411426916
CA408901408
26 D>N No ClinGen
gnomAD
rs974879110
CA314454888
30 D>E No ClinGen
TOPMed
TCGA novel 30 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9857960
rs779948444
31 R>Q No ClinGen
ExAC
gnomAD
CA408901702
rs1311452696
32 E>K No ClinGen
gnomAD
CA408901763
rs1166021854
33 H>R No ClinGen
TOPMed
CA408901753
rs1364036505
33 H>Y No ClinGen
TOPMed
CA408901785
rs1319354641
34 R>W No ClinGen
TOPMed
gnomAD
CA408901859
rs1246537609
36 K>R No ClinGen
gnomAD
CA408901895
rs1363354119
37 E>V No ClinGen
TOPMed
CA408901903
rs1273361617
38 H>N No ClinGen
gnomAD
rs1348183473
CA408901957
40 K>E No ClinGen
gnomAD
CA408901970
rs1457507702
40 K>R No ClinGen
TOPMed
gnomAD
CA408902051
rs1316906747
44 R>L No ClinGen
gnomAD
rs751834546
CA9857961
COSM1240488
44 R>W oesophagus Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
rs1196598053
CA408902126
47 S>C No ClinGen
gnomAD
CA314454913
rs933474316
51 N>K No ClinGen
TOPMed
CA408905339
rs1357991289
54 H>R No ClinGen
gnomAD
CA9857981
rs762757738
57 S>C No ClinGen
ExAC
gnomAD
TCGA novel 65 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9857983
rs751566633
69 H>P No ClinGen
ExAC
TOPMed
gnomAD
CA408905613
rs751566633
69 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs889429048
CA314468216
79 D>E No ClinGen
Ensembl
rs1447507245
CA9857987
80 K>R No ClinGen
TOPMed
CA9857989
rs61756255
RCV000957749
81 H>Y No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA408906826
rs1481910063
87 E>A No ClinGen
TOPMed
gnomAD
rs1317740193
CA408906851
88 K>R No ClinGen
TOPMed
CA9857990
COSM187483
rs778237366
89 R>Q lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA408906886
rs1276696859
90 K>R No ClinGen
TOPMed
TCGA novel 93 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs529981663
CA9858009
94 V>I No ClinGen
1000Genomes
ExAC
gnomAD
CA9858010
rs754130011
95 R>Q No ClinGen
ExAC
gnomAD
CA408907272
rs1438380698
96 A>D No ClinGen
gnomAD
rs757843101
CA9858011
96 A>T No ClinGen
ExAC
gnomAD
CA9858012
rs375933660
97 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1321133793
CA408907343
99 D>V No ClinGen
gnomAD
CA9858014
rs754504760
101 K>E No ClinGen
ExAC
gnomAD
CA408907480
rs780640549
102 I>M No ClinGen
ExAC
TOPMed
rs747837007
CA9858016
103 K>R No ClinGen
ExAC
gnomAD
rs777598857
CA9858018
104 K>E No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 105 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA408907851
rs1385283816
111 S>P No ClinGen
TOPMed
CA408907873
rs1600575268
112 S>R No ClinGen
Ensembl
CA9858034
rs752185915
113 P>L No ClinGen
ExAC
gnomAD
rs190890335
CA314471367
114 P>Q No ClinGen
1000Genomes
gnomAD
rs755828466
CA9858035
114 P>S No ClinGen
ExAC
gnomAD
TCGA novel 115 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1475341585
CA408908620
118 D>E No ClinGen
gnomAD
rs1258974931
CA408908607
118 D>V No ClinGen
gnomAD
CA408908715
rs1376544174
123 D>N No ClinGen
TOPMed
gnomAD
rs1283772974
CA408908804
126 F>L No ClinGen
TOPMed
rs1568688049
CA408908825
127 V>A No ClinGen
Ensembl
rs200253743
CA9858037
127 V>L No ClinGen
1000Genomes
ExAC
gnomAD
rs1242408105
CA408908846
128 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs149215646
CA314471379
129 P>R No ClinGen
ESP
TOPMed
CA408908851
rs1222089910
129 P>S No ClinGen
Ensembl
TCGA novel 131 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1401493294
CA408908932
131 E>G No ClinGen
gnomAD
CA408908965
rs1412658739
133 I>L No ClinGen
gnomAD
CA408908969
rs1412658739
COSM1615591
133 I>V liver [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1409118670
CA408908994
134 K>R No ClinGen
TOPMed
CA408909082
rs1600576455
137 K>R No ClinGen
Ensembl
rs745844456
CA9858040
139 P>T No ClinGen
ExAC
gnomAD
rs183058581
CA9858041
140 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 141 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9858042
rs775771475
143 D>N No ClinGen
ExAC
gnomAD
rs775771475
CA9858043
143 D>Y No ClinGen
ExAC
gnomAD
rs1325065963
CA408909317
144 D>N No ClinGen
gnomAD
CA9858053
rs79787987
149 P>S No ClinGen
ExAC
gnomAD
rs79787987
CA314472078
149 P>T No ClinGen
ExAC
gnomAD
CA408910194
rs1175394713
154 T>I No ClinGen
gnomAD
CA408910193
rs1175394713
154 T>R No ClinGen
gnomAD
CA408910238
rs1435361740
157 T>I No ClinGen
gnomAD
CA9858054
rs755632020
159 K>N No ClinGen
ExAC
CA9858056
rs777292244
161 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA408910288
rs1305986507
163 R>T No ClinGen
TOPMed
CA9858058
rs753466707
165 L>P No ClinGen
ExAC
CA314472114
rs966463878
165 L>V No ClinGen
TOPMed
TCGA novel 167 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA408910330
rs1385641118
169 E>A No ClinGen
TOPMed
CA9858069
rs776740150
170 D>G No ClinGen
ExAC
gnomAD
CA408910831
rs776740150
170 D>V No ClinGen
ExAC
gnomAD
CA408910840
rs1263778500
172 K>E No ClinGen
TOPMed
rs1362082972
CA408910867
174 K>R No ClinGen
gnomAD
TCGA novel 175 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 176 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1455564544
CA408910898
176 P>S No ClinGen
gnomAD
TCGA novel 176 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 176 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA408910908
rs902591606
177 K>E No ClinGen
TOPMed
gnomAD
rs902591606
CA314475091
177 K>Q No ClinGen
TOPMed
gnomAD
CA408910915
rs1285570454
177 K>R No ClinGen
TOPMed
CA408910980
rs1378853276
180 D>E No ClinGen
TOPMed
CA408910988
rs1328338312
181 K>E No ClinGen
gnomAD
rs1446671210
CA408911036
184 K>E No ClinGen
TOPMed
gnomAD
CA408911055
rs1304261311
185 V>F No ClinGen
gnomAD
TCGA novel 185 V>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA314475094
rs1043715784
186 P>A No ClinGen
TOPMed
rs1318157264
CA408911082
187 E>Q No ClinGen
TOPMed
gnomAD
rs770039906
CA9858073
189 D>G No ClinGen
ExAC
gnomAD
rs143582206
CA9858074
190 N>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA314475138
rs957960003
195 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs763556211
CA9858079
199 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs763556211
CA408911293
199 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs965382195
CA314475194
201 Q>R No ClinGen
Ensembl
rs1167614758
CA408911381
203 W>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs372451755
CA9858080
203 W>G No ClinGen
ESP
ExAC
gnomAD
CA408913234
rs1168763286
206 W>* No ClinGen
gnomAD
CA314483015
rs962939207
207 E>Q No ClinGen
TOPMed
CA9858094
rs771318367
210 R>H No ClinGen
ExAC
gnomAD
rs1270296041
CA408913324
COSM577423
210 R>S lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1462921114
CA408913363
212 P>A No ClinGen
gnomAD
VAR_052592
rs6029542
CA314483019
214 G>S No ClinGen
UniProt
Ensembl
dbSNP
CA408913488
rs1311803129
216 K>R No ClinGen
gnomAD
rs1367370980
CA408913576
218 K>R No ClinGen
TOPMed
TCGA novel 222 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9858096
rs760013535
223 K>R No ClinGen
ExAC
gnomAD
CA408913794
rs1293462818
225 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1360819731
CA408913800
226 V>I No ClinGen
gnomAD
TCGA novel 229 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761392193
CA9858099
233 P>L No ClinGen
ExAC
gnomAD
rs776071683
CA9858098
233 P>S No ClinGen
ExAC
gnomAD
CA314483060
rs781633039
239 K>M No ClinGen
gnomAD
rs781633039
CA408914162
239 K>R No ClinGen
gnomAD
TCGA novel 239 K>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764596482
CA9858100
240 F>Y No ClinGen
ExAC
gnomAD
rs1213310382
CA408914218
241 Y>C No ClinGen
gnomAD
CA408914291
rs1457571969
243 D>Y No ClinGen
TOPMed
rs1193384220
CA408915786
244 G>D No ClinGen
gnomAD
rs1251751579
CA408915798
245 K>E No ClinGen
gnomAD
rs765942481
CA9858111
245 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA9858112
rs779311506
247 M>T No ClinGen
ExAC
gnomAD
TCGA novel 248 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs961016028
CA314486447
250 S>N No ClinGen
TOPMed
gnomAD
rs1398627297
CA408915901
251 P>H No ClinGen
gnomAD
CA408915930
rs1439972939
253 A>T No ClinGen
gnomAD
rs1373154376
CA408915985
256 V>A No ClinGen
gnomAD
rs761040870
CA9858116
258 T>A No ClinGen
ExAC
gnomAD
rs1349958802
CA408916014
258 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs762751843
CA9858119
265 D>N No ClinGen
ExAC
gnomAD
rs371220245
CA314486498
269 T>S No ClinGen
ESP
rs751102524
CA9858121
272 E>A No ClinGen
ExAC
gnomAD
CA314486503
rs1020967185
273 I>M No ClinGen
TOPMed
gnomAD
TCGA novel 276 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 277 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA408916477
rs1164533429
288 N>D No ClinGen
TOPMed
rs759068522
CA9858142
289 E>V No ClinGen
ExAC
TOPMed
gnomAD
rs767387396
CA9858143
291 K>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA314487138
rs938447335
293 I>S No ClinGen
TOPMed
gnomAD
rs752415801
CA9858144
294 I>V No ClinGen
ExAC
gnomAD
CA9858145
rs760667786
295 T>N No ClinGen
ExAC
gnomAD
rs144769453
CA9858146
296 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 300 C>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1012236642
CA314487151
304 Q>R No ClinGen
gnomAD
CA9858147
rs753708720
306 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs1197309244
CA408916694
311 A>V No ClinGen
TOPMed
rs757344214
CA9858148
313 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1216787339
CA408916774
316 R>G No ClinGen
gnomAD
rs750690932
CA9858150
316 R>Q No ClinGen
ExAC
rs758525665
CA9858151
319 M>I No ClinGen
ExAC
gnomAD
rs906595805
CA314487189
320 S>N No ClinGen
Ensembl
rs780523652
CA9858152
323 E>K No ClinGen
ExAC
gnomAD
VAR_036555 326 K>R breast cancer; somatic mutation [UniProt] No UniProt
TCGA novel 329 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9858166
rs761702126
338 Y>C No ClinGen
ExAC
gnomAD
TCGA novel 340 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs868817757
CA314488377
359 G>R No ClinGen
Ensembl
CA409020147
rs1171906901
362 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
VAR_010666 370 M>T CPT-resistant leukemia [UniProt] No UniProt
TCGA novel 373 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA314488413
rs112116865
379 P>R No ClinGen
Ensembl
rs1568697822
CA409020274
380 E>G No ClinGen
Ensembl
CA9858175
rs756669367
380 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA409020271
rs756669367
380 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs750943920
CA314488416
385 N>S No ClinGen
Ensembl
CA9858177
rs745367408
388 K>R No ClinGen
ExAC
gnomAD
CA9858197
rs778148217
389 D>G No ClinGen
ExAC
gnomAD
rs554637067
CA9858198
391 K>R No ClinGen
1000Genomes
ExAC
gnomAD
CA9858199
rs554637067
391 K>T No ClinGen
1000Genomes
ExAC
gnomAD
rs746707044
CA9858201
392 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA409020375
rs746707044
392 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs990347811
CA314489331
394 S>F No ClinGen
TOPMed
CA314489347
rs1028952749
395 P>S No ClinGen
TOPMed
rs1473712126
CA409020406
397 P>L No ClinGen
gnomAD
CA9858202
rs768277865
399 H>N No ClinGen
ExAC
gnomAD
rs781028862
CA9858203
399 H>R No ClinGen
ExAC
gnomAD
rs747937612
CA409020426
400 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs769570560
CA9858205
402 K>R No ClinGen
ExAC
gnomAD
CA314489379
rs952663541
408 N>D No ClinGen
TOPMed
CA314489391
rs952663541
408 N>Y No ClinGen
TOPMed
rs1287698565
CA409020542
417 T>A No ClinGen
TOPMed
CA409020545
rs1295970079
417 T>I No ClinGen
gnomAD
CA9858208
rs770954982
420 I>V No ClinGen
ExAC
gnomAD
CA9858230
rs770886088
448 R>Q No ClinGen
ExAC
gnomAD
CA9858231
rs534234650
449 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
COSM88694
rs1346009286
CA409020832
449 R>W ovary [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1265323416
CA409020848
452 K>Q No ClinGen
Ensembl
TCGA novel 453 C>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs375631824
CA9858235
453 C>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409020859
rs1172495373
453 C>S No ClinGen
gnomAD
CA9858236
rs764410433
455 D>H No ClinGen
ExAC
gnomAD
CA409020893
rs1313664473
458 R>Q No ClinGen
gnomAD
rs1451410497
CA409020910
460 Q>H No ClinGen
gnomAD
TCGA novel 460 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409020912
rs1480384555
461 Y>N No ClinGen
TOPMed
CA9858237
rs777034891
462 R>G No ClinGen
ExAC
gnomAD
rs765735179
CA9858239
471 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA409021030
rs1342560648
477 V>E No ClinGen
TOPMed
TCGA novel 484 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409021131
rs1162488116
490 G>D No ClinGen
gnomAD
rs1281469176
CA409021138
491 N>S No ClinGen
TOPMed
TCGA novel 499 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409021237
rs1353973932
505 C>Y No ClinGen
gnomAD
CA409021290
rs1431493826
513 N>D No ClinGen
TOPMed
CA9858263
rs368340693
513 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs61751055
CA314495000
515 H>R No ClinGen
Ensembl
rs1449586268
CA409021303
515 H>Y No ClinGen
gnomAD
CA9858265
rs778811581
517 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA314495006
rs6129757
517 E>K No ClinGen
gnomAD
CA409021326
rs1229325167
518 L>F No ClinGen
gnomAD
rs1359093315
CA409021323
518 L>S No ClinGen
TOPMed
gnomAD
CA409021321
rs1397735728
518 L>V No ClinGen
TOPMed
rs756443481
CA9858266
519 D>H No ClinGen
ExAC
gnomAD
CA314495013
rs756443481
519 D>N No ClinGen
ExAC
gnomAD
TCGA novel 521 Q>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs60545547
CA314495027
536 R>K No ClinGen
Ensembl
rs1189078721
CA409021465
538 Y>C No ClinGen
TOPMed
CA9858272
rs748325948
540 K>R No ClinGen
ExAC
gnomAD
TCGA novel 543 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1297736989
CA409021565
551 L>V No ClinGen
TOPMed
gnomAD
CA409021634
rs1257438090
560 P>A No ClinGen
gnomAD
CA9858292
rs372925211
569 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 575 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1023000132
CA314495903
576 H>R No ClinGen
TOPMed
rs267607132
CA233207
583 G>D No ClinGen
gnomAD
TCGA novel 587 K>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs917917979
CA314495922
599 Q>L No ClinGen
Ensembl
rs1390776991
CA409021941
603 K>E No ClinGen
gnomAD
CA9858317
rs769377336
607 A>S No ClinGen
ExAC
gnomAD
rs1183930591 608 P>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1482508929
CA409021988
608 P>Q No ClinGen
gnomAD
CA9858318
rs773027520
608 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1449379408
CA409022018
612 I>N No ClinGen
gnomAD
TCGA novel 612 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409022048
rs775439007
616 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA409022046
rs1430032948
616 I>T No ClinGen
gnomAD
TCGA novel 620 N>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753852805
CA9858348
637 P>S No ClinGen
ExAC
gnomAD
CA9858349
rs757569552
645 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs1230819659
CA409022254
646 N>S No ClinGen
gnomAD
CA9858351
rs200369400
647 L>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 653 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751965461
CA9858371
657 Q>L No ClinGen
ExAC
TOPMed
gnomAD
CA409022374
rs1465736101
661 A>V No ClinGen
gnomAD
rs781564130
CA9858373
662 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs530001363
CA9858372
662 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs753199078
CA9858374
664 D>E No ClinGen
ExAC
gnomAD
CA9858375
rs756749817
665 L>V No ClinGen
ExAC
gnomAD
rs1471511396
CA409022412
668 A>T No ClinGen
gnomAD
CA409022422
rs1161096445
669 K>R No ClinGen
gnomAD
CA9858377
rs745559074
672 A>S No ClinGen
ExAC
gnomAD
CA409022451
rs1185174375
673 K>N No ClinGen
TOPMed
rs1367619487
CA409022450
673 K>R No ClinGen
TOPMed
CA9858378
rs140382971
674 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409022464
rs1348156664
675 M>I No ClinGen
gnomAD
CA409022462
rs1256385380
675 M>T No ClinGen
TOPMed
CA314452145
rs988237941
676 K>N No ClinGen
Ensembl
rs1181074140
CA409022479
677 D>V No ClinGen
TOPMed
rs1481780173
CA409022501
680 T>M No ClinGen
TOPMed
CA9858380
CA314452163
rs746813415
681 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs376919997
CA314452414
683 V>I No ClinGen
ESP
TOPMed
rs748089383
CA9858400
684 V>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 687 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 689 K>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs769763760
CA9858401
690 A>T No ClinGen
ExAC
gnomAD
CA314452421
rs1009451528
690 A>V No ClinGen
gnomAD
rs1184296058
CA409022599
693 R>S No ClinGen
gnomAD
CA9858402
rs772952651
695 E>G No ClinGen
ExAC
gnomAD
rs1021040031
CA314452429
699 M>T No ClinGen
gnomAD
rs1447914763
CA409022667
703 V>F No ClinGen
TOPMed
gnomAD
rs193297810
CA314452438
704 Q>K No ClinGen
Ensembl
rs1270229872
CA409022702
708 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs749390814
CA9858403
709 E>K No ClinGen
ExAC
gnomAD
CA409022751
rs1600608502
715 A>S No ClinGen
Ensembl
TCGA novel 717 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel
VAR_010667
722 N>S Variant assessed as Somatic; impact. CPT-resistant leukemia [NCI-TCGA, UniProt] No NCI-TCGA
UniProt
VAR_007531 729 T>A CPT-resistant lung cancer [UniProt] No UniProt
CA9858406
rs759801090
731 A>S No ClinGen
ExAC
gnomAD
CA9858407
rs767821063
732 W>L No ClinGen
ExAC
gnomAD
CA409022900
rs1318387771
735 K>N No ClinGen
gnomAD
rs576235416
CA314453477
736 W>C No ClinGen
1000Genomes
CA409022914
rs1330156507
737 G>V No ClinGen
gnomAD
TCGA novel 739 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 739 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9858429
rs746151400
740 I>T No ClinGen
ExAC
gnomAD
rs774551028
CA9858428
740 I>V No ClinGen
ExAC
gnomAD
TCGA novel 743 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 747 T>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1411785
rs56111014
CA314453491
749 R>Q large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs772337012
CA9858430
750 E>D No ClinGen
ExAC
gnomAD
rs775509655
CA9858431
751 K>R No ClinGen
ExAC
gnomAD
TCGA novel 755 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409023090
rs1466190769
762 D>V No ClinGen
gnomAD
TCGA novel 765 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409023119
rs1484269640
766 F>Q No ClinGen
gnomAD

1 associated diseases with P11387

Without disease ID

5 regional properties for P11387

Type Name Position InterPro Accession
domain DNA topoisomerase I, DNA binding, eukaryotic-type 215 - 429 IPR008336
domain DNA topoisomerase I, eukaryotic-type 360 - 737 IPR013499
domain DNA topoisomerase I, catalytic core, eukaryotic-type 432 - 663 IPR013500
active_site DNA topoisomerase I, active site 710 - 728 IPR018521
domain Topoisomerase I C-terminal domain 695 - 765 IPR025834

Functions

Description
EC Number 5.6.2.1 Enzymes altering nucleic acid conformation
Subcellular Localization
  • Nucleus, nucleolus
  • Nucleus, nucleoplasm
  • Diffuse nuclear localization with some enrichment in nucleoli
  • On CPT treatment, cleared from nucleoli into nucleoplasm
  • Sumoylated forms found in both nucleoplasm and nucleoli
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

9 GO annotations of cellular component

Name Definition
chromosome A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information.
fibrillar center A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures.
male germ cell nucleus The nucleus of a male germ cell, a reproductive cell in males.
nucleolus A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
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.
P-body A focus in the cytoplasm where mRNAs may become inactivated by decapping or some other mechanism. Protein and RNA localized to these foci are involved in mRNA degradation, nonsense-mediated mRNA decay (NMD), translational repression, and RNA-mediated gene silencing.
perikaryon The portion of the cell soma (neuronal cell body) that excludes the nucleus.
protein-DNA complex A macromolecular complex containing both protein and DNA molecules.

12 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
chromatin binding Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA binding, bending The activity of binding selectively and non-covalently to and distorting the original structure of DNA, typically a straight helix, into a bend, or increasing the bend if the original structure was intrinsically bent due to its sequence.
DNA topoisomerase type I (single strand cut, ATP-independent) activity Catalysis of a DNA topological transformation by transiently cleaving one DNA strand at a time to allow passage of another strand; changes the linking number by +1 per catalytic cycle.
double-stranded DNA binding Binding to double-stranded DNA.
protein domain specific binding Binding to a specific domain of a protein.
protein serine/threonine kinase activity Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.
RNA binding Binding to an RNA molecule or a portion thereof.
RNA polymerase II cis-regulatory region sequence-specific DNA binding Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
single-stranded DNA binding Binding to single-stranded DNA.
supercoiled DNA binding Binding to supercoiled DNA. For example, during replication and transcription, template DNA is negatively supercoiled in the receding downstream DNA and positively supercoiled in the approaching downstream DNA.

11 GO annotations of biological process

Name Definition
chromatin remodeling A dynamic process of chromatin reorganization resulting in changes to chromatin structure. These changes allow DNA metabolic processes such as transcriptional regulation, DNA recombination, DNA repair, and DNA replication.
chromosome segregation The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. In eukaryotes, chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles.
circadian regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression such that an expression pattern recurs with a regularity of approximately 24 hours.
circadian rhythm Any biological process in an organism that recurs with a regularity of approximately 24 hours.
DNA replication The cellular metabolic process in which a cell duplicates one or more molecules of DNA. DNA replication begins when specific sequences, known as origins of replication, are recognized and bound by initiation proteins, and ends when the original DNA molecule has been completely duplicated and the copies topologically separated. The unit of replication usually corresponds to the genome of the cell, an organelle, or a virus. The template for replication can either be an existing DNA molecule or RNA.
DNA topological change The process in which a transformation is induced in the topological structure of a double-stranded DNA helix, resulting in a change in linking number.
embryonic cleavage The first few specialized divisions of an activated animal egg.
peptidyl-serine phosphorylation The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine.
phosphorylation The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.
programmed cell death A process which begins when a cell receives an internal or external signal and activates a series of biochemical events (signaling pathway). The process ends with the death of the cell.
response to xenobiotic stimulus 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 from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P04786 TOP1 DNA topoisomerase 1 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
Q04750 Top1 DNA topoisomerase 1 Mus musculus (Mouse) PR
10 20 30 40 50 60
MSGDHLHNDS QIEADFRLND SHKHKDKHKD REHRHKEHKK EKDREKSKHS NSEHKDSEKK
70 80 90 100 110 120
HKEKEKTKHK DGSSEKHKDK HKDRDKEKRK EEKVRASGDA KIKKEKENGF SSPPQIKDEP
130 140 150 160 170 180
EDDGYFVPPK EDIKPLKRPR DEDDADYKPK KIKTEDTKKE KKRKLEEEED GKLKKPKNKD
190 200 210 220 230 240
KDKKVPEPDN KKKKPKKEEE QKWKWWEEER YPEGIKWKFL EHKGPVFAPP YEPLPENVKF
250 260 270 280 290 300
YYDGKVMKLS PKAEEVATFF AKMLDHEYTT KEIFRKNFFK DWRKEMTNEE KNIITNLSKC
310 320 330 340 350 360
DFTQMSQYFK AQTEARKQMS KEEKLKIKEE NEKLLKEYGF CIMDNHKERI ANFKIEPPGL
370 380 390 400 410 420
FRGRGNHPKM GMLKRRIMPE DIIINCSKDA KVPSPPPGHK WKEVRHDNKV TWLVSWTENI
430 440 450 460 470 480
QGSIKYIMLN PSSRIKGEKD WQKYETARRL KKCVDKIRNQ YREDWKSKEM KVRQRAVALY
490 500 510 520 530 540
FIDKLALRAG NEKEEGETAD TVGCCSLRVE HINLHPELDG QEYVVEFDFL GKDSIRYYNK
550 560 570 580 590 600
VPVEKRVFKN LQLFMENKQP EDDLFDRLNT GILNKHLQDL MEGLTAKVFR TYNASITLQQ
610 620 630 640 650 660
QLKELTAPDE NIPAKILSYN RANRAVAILC NHQRAPPKTF EKSMMNLQTK IDAKKEQLAD
670 680 690 700 710 720
ARRDLKSAKA DAKVMKDAKT KKVVESKKKA VQRLEEQLMK LEVQATDREE NKQIALGTSK
730 740 750 760
LNYLDPRITV AWCKKWGVPI EKIYNKTQRE KFAWAIDMAD EDYEF