P11387
Gene name |
TOP1 |
Protein name |
DNA topoisomerase 1 |
Names |
DNA topoisomerase I |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7150 |
EC number |
5.6.2.1: Enzymes altering nucleic acid conformation |
Protein Class |
|
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 |
|
|
| 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. |
| 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 |