P58005
PR
Gene name |
SESN3 |
Protein name |
Sestrin-3 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:143686 |
EC number |
|
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
1 structures for P58005
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P58005-F1 | Predicted | AlphaFoldDB |
275 variants for P58005
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1405358029 CA382466062 |
3 | R>P | No |
ClinGen gnomAD |
|
|
rs1420487132 CA382466066 |
3 | R>W | No |
ClinGen gnomAD |
|
|
CA227076199 rs372390215 |
4 | G>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs762770621 CA6238833 |
4 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA382466050 rs372390215 |
4 | G>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs772943425 CA6238832 |
5 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1208611657 CA382466034 |
5 | G>V | No |
ClinGen gnomAD |
|
|
CA6238830 rs761423928 |
6 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA227076196 rs992727115 |
8 | P>L | No |
ClinGen gnomAD |
|
|
rs992727115 CA227076197 |
8 | P>R | No |
ClinGen gnomAD |
|
|
CA382465893 rs1318902387 |
9 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1228129466 CA382465864 |
11 | A>T | No |
ClinGen gnomAD |
|
|
rs1356473777 CA382465840 |
12 | A>S | No |
ClinGen gnomAD |
|
|
rs746445662 CA6238827 |
13 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs774924032 CA6238826 |
14 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 14 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382465757 rs1343031834 |
15 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 15 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382465712 rs1157993331 |
17 | C>F | No |
ClinGen gnomAD |
|
|
CA382465671 rs1475359439 |
19 | N>S | No |
ClinGen gnomAD |
|
|
CA227076195 rs1051334722 |
20 | C>G | No |
ClinGen TOPMed |
|
|
rs749690047 CA6238824 |
21 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382465636 rs1185615189 |
21 | R>W | No |
ClinGen gnomAD |
|
|
CA382465544 rs1231806999 |
25 | R>Q | No |
ClinGen TOPMed |
|
|
rs771513625 CA6238806 |
27 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216869305 CA382468863 |
27 | D>G | No |
ClinGen TOPMed |
|
|
rs1272624733 CA382468866 |
27 | D>N | No |
ClinGen gnomAD |
|
|
CA382468847 rs1336039287 |
29 | R>I | No |
ClinGen gnomAD |
|
|
CA382468849 rs1336039287 |
29 | R>K | No |
ClinGen gnomAD |
|
|
rs1330568703 CA382468837 |
31 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1369827714 CA382468820 |
33 | S>C | No |
ClinGen gnomAD |
|
|
rs1407767283 CA382468823 |
33 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 33 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6238805 rs749777921 |
34 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382468808 rs762668129 |
35 | P>L | No |
ClinGen TOPMed |
|
|
rs762668129 CA227072403 |
35 | P>R | No |
ClinGen TOPMed |
|
|
rs766165520 CA6238804 |
35 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6238802 rs748459759 |
36 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA6238801 rs139919458 |
37 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs867538988 CA227072402 |
38 | R>G | No |
ClinGen Ensembl |
|
| TCGA novel | 39 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6238798 rs758397932 |
47 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1471834519 CA382468722 |
48 | E>A | No |
ClinGen gnomAD |
|
|
rs1328123488 CA382468680 |
52 | A>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 52 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1328123488 CA382468679 |
52 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1320887348 CA382468665 |
54 | T>I | No |
ClinGen TOPMed |
|
|
RCV000729617 rs1320887348 CA382468666 |
54 | T>R | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs540716602 CA6238768 |
56 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6238767 rs560474158 |
58 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1447332984 CA382468627 |
60 | N>I | No |
ClinGen gnomAD |
|
| TCGA novel | 66 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777120736 CA6238764 |
67 | S>A | No |
ClinGen ExAC TOPMed |
|
|
rs1015738066 CA227072232 |
70 | G>D | No |
ClinGen gnomAD |
|
|
VAR_051958 rs10160385 CA227072231 |
71 | R>C | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA6238761 COSM933597 rs542136270 |
71 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA6238760 rs772240130 |
72 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1199100794 CA382468522 |
76 | T>I | No |
ClinGen TOPMed |
|
|
rs749174396 CA6238756 |
79 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1223432298 CA382468460 |
85 | Y>D | No |
ClinGen gnomAD |
|
|
rs755870099 CA6238754 |
88 | S>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 90 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6238753 rs201726023 |
90 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754657751 CA6238751 COSM933596 |
91 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM1470522 CA6238752 rs781016923 COSM3687727 |
91 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA382468415 rs1384345368 |
92 | S>N | No |
ClinGen TOPMed |
|
|
COSM933595 CA382468369 rs1400088899 |
98 | R>C | oesophagus large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1433012201 CA382468367 |
98 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6238750 rs751156279 |
99 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 107 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765984536 CA6238749 |
108 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA6238747 rs754315673 |
113 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6238746 rs142701619 |
114 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382468216 rs1279992884 |
119 | H>P | No |
ClinGen TOPMed |
|
|
rs757850752 CA6238730 |
125 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs749909337 CA6238729 |
127 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1332228695 CA382468138 |
130 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 132 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 139 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382468038 rs1214973197 |
143 | N>I | No |
ClinGen TOPMed |
|
| TCGA novel | 145 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764529249 CA6238728 |
146 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6238727 rs568631432 |
147 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753097490 CA6238726 |
148 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382467960 rs1565466459 |
154 | N>S | No |
ClinGen Ensembl |
|
|
rs1198949813 CA382467952 |
155 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 155 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 160 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1286895936 CA382467886 |
165 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1409733830 COSM933593 CA382467885 |
165 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs762968605 CA6238721 |
166 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 168 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6238720 rs138123867 |
171 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382467843 rs1358181229 |
172 | E>K | No |
ClinGen gnomAD |
|
|
CA382467826 rs1425808702 |
174 | I>V | No |
ClinGen TOPMed |
|
|
rs1331560520 CA382467782 |
178 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs927390693 CA227071676 |
181 | G>E | No |
ClinGen TOPMed |
|
|
rs1266619111 CA382467761 |
181 | G>R | No |
ClinGen gnomAD |
|
|
CA227071675 rs935091955 |
182 | E>D | No |
ClinGen Ensembl |
|
|
rs1565465156 CA382467725 |
186 | S>P | No |
ClinGen Ensembl |
|
|
rs1228165482 CA382467701 |
190 | L>V | No |
ClinGen gnomAD |
|
|
CA6238712 rs547099672 |
191 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1394845409 CA382467679 |
193 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 195 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778453535 CA6238710 |
200 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA382467612 rs1436827689 |
204 | A>T | No |
ClinGen gnomAD |
|
|
rs1459014151 CA382467603 |
205 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 211 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1451053785 CA382467551 |
212 | I>M | No |
ClinGen TOPMed |
|
|
CA6238707 rs781618804 |
212 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA382467540 rs1168857375 |
214 | P>S | No |
ClinGen TOPMed |
|
|
rs751876772 TCGA novel CA6238705 |
215 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs535261299 CA6238704 |
216 | R>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 217 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382467514 rs1255539408 |
217 | D>N | No |
ClinGen gnomAD |
|
|
CA382467495 rs1189366175 |
218 | P>S | No |
ClinGen gnomAD |
|
|
rs372955657 CA6238703 |
220 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765347400 CA6238701 |
221 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1591051954 CA382467440 |
222 | N>K | No |
ClinGen Ensembl |
|
|
rs761926549 CA6238700 |
222 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA382467422 rs1240569273 |
224 | F>V | No |
ClinGen gnomAD |
|
|
rs1267658339 CA382467403 |
225 | R>K | No |
ClinGen gnomAD |
|
|
rs776715016 CA6238699 |
226 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs11021069 CA227071673 VAR_051959 |
227 | I>T | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs200306800 CA227071672 |
228 | S>P | No |
ClinGen Ensembl |
|
|
rs11021068 CA6238697 |
229 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6238698 rs11021068 |
229 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 231 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6238696 rs143672508 |
231 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6238694 rs745526994 |
232 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771660353 CA6238695 |
232 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA6238693 rs778342525 |
233 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs368962287 CA6238691 |
234 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781683302 CA6238690 |
235 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs769670132 CA382467153 |
243 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1303012896 CA382467145 |
243 | I>T | No |
ClinGen TOPMed |
|
|
rs769670132 CA227071670 |
243 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1290892661 CA382467121 |
244 | E>A | No |
ClinGen gnomAD |
|
|
CA227071669 CA6238687 rs149346821 |
244 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
rs751912829 CA6238688 |
244 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 248 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6238685 rs758607294 |
251 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA382467007 rs1279438411 |
251 | S>R | No |
ClinGen TOPMed |
|
|
rs750674165 CA6238684 CA382466992 |
251 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA6238682 rs762016502 |
254 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs756060777 CA6238661 |
255 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6238660 rs752690033 |
256 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6238659 rs767289312 |
259 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1328200147 CA382466734 |
260 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA382466723 rs1411223633 |
260 | S>R | No |
ClinGen TOPMed |
|
|
rs1328200147 CA382466731 |
260 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1325573121 CA382466702 |
261 | E>D | No |
ClinGen Ensembl |
|
|
CA6238658 rs759403803 |
262 | L>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 269 | M>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1471574508 | 273 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6238656 rs766062615 |
276 | R>W | No |
ClinGen ExAC |
|
|
rs1382310163 CA382466424 |
278 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6238654 rs369321677 |
281 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 283 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 286 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382466272 rs1405101705 |
287 | S>N | No |
ClinGen TOPMed |
|
|
CA6238650 rs772411675 |
289 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM270982 rs746291519 CA6238649 |
289 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1308290530 CA382466016 |
297 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 298 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757619434 CA6238646 |
301 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs749507253 CA6238645 |
302 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA6238644 rs778079814 |
304 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA382465780 rs1328329870 |
305 | T>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 310 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs943303626 CA227071098 |
313 | D>E | No |
ClinGen Ensembl |
|
|
rs1431004400 CA382463980 |
315 | E>K | No |
ClinGen gnomAD |
|
|
CA6238620 rs142383831 |
318 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382463902 rs1591047201 |
319 | I>F | No |
ClinGen Ensembl |
|
|
rs1192658140 CA382463881 |
320 | I>V | No |
ClinGen gnomAD |
|
|
rs1332854607 CA382463854 |
321 | T>I | No |
ClinGen TOPMed |
|
|
rs1267965132 CA382463812 |
323 | D>E | No |
ClinGen gnomAD |
|
|
CA382463818 rs1476934272 |
323 | D>G | No |
ClinGen gnomAD |
|
|
CA382463800 rs1591047171 |
324 | V>A | No |
ClinGen Ensembl |
|
|
rs887577155 CA227071097 |
324 | V>I | No |
ClinGen TOPMed |
|
|
CA382463771 rs764991422 |
326 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6238618 COSM1510460 rs764991422 |
326 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA382463746 rs1484035651 |
328 | I>T | No |
ClinGen gnomAD |
|
|
CA382463695 rs1313899972 |
330 | D>G | No |
ClinGen TOPMed |
|
|
rs1276782659 CA382463686 |
331 | P>T | No |
ClinGen gnomAD |
|
|
CA382463674 rs1202546852 |
332 | G>S | No |
ClinGen gnomAD |
|
|
CA6238617 rs761339529 |
336 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs753452799 CA6238616 |
337 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1423195129 CA382463595 |
337 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1423195129 CA382463599 |
337 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6238615 rs763498898 |
339 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1194594227 CA382463526 |
341 | R>* | No |
ClinGen gnomAD |
|
| TCGA novel | 341 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1410967707 CA382463523 |
341 | R>Q | No |
ClinGen gnomAD |
|
|
CA227071095 rs1048884494 |
347 | P>A | No |
ClinGen Ensembl |
|
|
CA382463407 rs1461063640 |
348 | T>A | No |
ClinGen gnomAD |
|
|
rs760204871 CA6238613 |
348 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1177743793 CA382463378 |
349 | F>L | No |
ClinGen gnomAD |
|
|
CA382463372 rs1412449950 |
350 | R>* | No |
ClinGen gnomAD |
|
|
rs1489329660 CA382463369 |
350 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1279160120 CA382463145 |
355 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 355 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs934916798 CA227071024 |
367 | L>V | No |
ClinGen Ensembl |
|
|
rs1414625631 CA382462884 |
369 | S>F | No |
ClinGen gnomAD |
|
|
CA6238590 rs765537834 |
371 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1460103343 CA382462830 |
372 | G>V | No |
ClinGen gnomAD |
|
|
rs1565462619 CA382462807 |
373 | H>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 375 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1242786408 CA382462761 |
376 | D>H | No |
ClinGen gnomAD |
|
|
rs141908117 CA227071022 |
380 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1259383747 CA382462666 |
382 | V>L | No |
ClinGen gnomAD |
|
|
COSM3670925 rs1343181907 CA382462619 |
384 | N>S | Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA382462600 rs1238940561 |
386 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs958679635 COSM1659948 CA227071020 |
387 | Y>C | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA382462566 rs1243172125 |
388 | N>D | No |
ClinGen gnomAD |
|
|
rs1438084323 CA382462531 |
389 | T>N | No |
ClinGen TOPMed |
|
|
CA382462520 rs1320780954 |
390 | M>T | No |
ClinGen gnomAD |
|
|
CA6238588 rs776751070 |
390 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 391 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6238587 rs768817894 |
393 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA227071019 rs910664812 |
395 | D>A | No |
ClinGen Ensembl |
|
|
rs1372388226 CA382462431 |
395 | D>N | No |
ClinGen TOPMed |
|
|
rs1223687711 CA382462366 |
398 | T>I | No |
ClinGen TOPMed |
|
|
rs772062473 CA6238584 |
399 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA382462324 rs1166940410 |
400 | M>T | No |
ClinGen gnomAD |
|
|
rs145434950 CA6238581 |
402 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749067368 CA6238580 |
402 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777309618 CA6238579 |
404 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6238578 rs755803450 |
407 | N>S | No |
ClinGen ExAC |
|
|
rs1204934986 CA382462182 |
408 | Y>C | No |
ClinGen gnomAD |
|
|
rs752292702 CA6238577 |
410 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs200790229 CA227071018 |
411 | C>S | No |
ClinGen Ensembl |
|
|
CA382462100 rs1267792413 |
412 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs988594861 CA227071017 |
414 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 423 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382461328 rs1171795102 |
424 | E>V | No |
ClinGen gnomAD |
|
|
CA382461288 rs1478953270 |
430 | E>Q | No |
ClinGen gnomAD |
|
|
CA6238557 rs780929087 |
437 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1393249130 CA382461237 |
437 | I>V | No |
ClinGen gnomAD |
|
|
CA382461181 rs1466797092 |
445 | E>A | No |
ClinGen gnomAD |
|
|
rs766389916 CA227070800 |
445 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA382461183 rs1390641197 |
445 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 448 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 449 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6238555 rs751032396 |
450 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6238554 rs547426358 |
450 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs547426358 CA6238553 |
450 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754224018 CA6238552 |
451 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA227070799 rs983687176 |
455 | Y>C | No |
ClinGen gnomAD |
|
|
rs760970492 CA6238550 |
457 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6238551 rs764427282 |
457 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249266072 CA382461091 |
458 | Q>L | No |
ClinGen gnomAD |
|
|
CA382461081 rs1437988813 |
459 | F>L | No |
ClinGen TOPMed |
|
|
rs1200659629 CA382461077 |
460 | K>T | No |
ClinGen gnomAD |
|
|
CA6238549 rs752919829 |
461 | H>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 463 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1260945571 CA382461056 |
463 | E>A | No |
ClinGen gnomAD |
|
|
CA6238532 rs139859559 |
465 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6238531 rs756501529 |
466 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA227070598 rs1029845752 |
468 | N>S | No |
ClinGen Ensembl |
|
|
rs1373232027 CA382460983 |
472 | M>T | No |
ClinGen TOPMed |
|
|
CA6238529 rs767772445 |
473 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs665653 CA227070597 |
473 | E>G | No |
ClinGen Ensembl |
|
|
rs759770944 CA6238528 |
475 | R>* | No |
ClinGen ExAC gnomAD |
|
|
COSM933582 CA382460965 rs1173588660 |
475 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA382460958 rs1452248179 |
476 | M>R | No |
ClinGen gnomAD |
|
|
rs1389820599 CA382460929 |
480 | L>F | No |
ClinGen gnomAD |
|
|
CA6238527 rs751654999 |
483 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1399395212 CA382460904 |
484 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs766496091 CA6238526 |
485 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762876773 CA6238525 |
485 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769810246 CA6238523 |
489 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6238524 rs773318163 |
489 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA227070596 rs1018437989 |
491 | L>F | No |
ClinGen TOPMed |
|
|
rs1182583944 CA382460852 |
493 | T>G | No |
ClinGen gnomAD |
No associated diseases with P58005
No regional properties for P58005
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P58005 | |||
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| TORC2 complex | A protein complex that contains at least TOR (target of rapamycin) and Rictor (rapamycin-insensitive companion of TOR), or orthologs of, in complex with other signaling components. Mediates the phosphorylation and activation of PKB (also called AKT). In Saccharomyces, the complex contains Avo1p, Avo2p, Tsc11p, Lst8p, Bit61p, Slm1p, Slm2p, and Tor2p. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| leucine binding | Binding to 2-amino-4-methylpentanoic acid. |
| oxidoreductase activity, acting on peroxide as acceptor | Catalysis of an oxidation-reduction (redox) reaction in which the peroxide group acts as a hydrogen or electron acceptor. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to amino acid starvation | 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 deprivation of amino acids. |
| cellular response to glucose starvation | 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 deprivation of glucose. |
| cellular response to leucine | 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 leucine stimulus. |
| cellular response to leucine starvation | 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 deprivation of leucine. |
| glucose homeostasis | Any process involved in the maintenance of an internal steady state of glucose within an organism or cell. |
| negative regulation of TORC1 signaling | Any process that stops, prevents or reduces the frequency, rate or extent of TORC1 signaling. |
| positive regulation of macroautophagy | Any process, such as recognition of nutrient depletion, that activates or increases the rate of macroautophagy to bring cytosolic macromolecules to the vacuole/lysosome for degradation. |
| regulation of insulin receptor signaling pathway | Any process that modulates the frequency, rate or extent of insulin receptor signaling. |
| regulation of protein kinase B signaling | Any process that modulates the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B. |
| regulation of response to reactive oxygen species | Any process that modulates the frequency, rate or extent of response to reactive oxygen species. |
| response to insulin | 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 an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. |
| TORC2 signaling | A series of intracellular molecular signals mediated by TORC2; TOR (rapamycin-insensitive companion of TOR) in complex with at least Rictor (regulatory-associated protein of TOR), or orthologs of, and other signaling components. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNRGGGSPSA | AANYLLCTNC | RKVLRKDKRI | RVSQPLTRGP | SAFIPEKEVV | QANTVDERTN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FLVEEYSTSG | RLDNITQVMS | LHTQYLESFL | RSQFYMLRMD | GPLPLPYRHY | IAIMAAARHQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CSYLINMHVD | EFLKTGGIAE | WLNGLEYVPQ | RLKNLNEINK | LLAHRPWLIT | KEHIQKLVKT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GENNWSLPEL | VHAVVLLAHY | HALASFVFGS | GINPERDPEI | SNGFRLISVN | NFCVCDLAND |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NNIENASLSG | SNFGIVDSLS | ELEALMERMK | RLQEEREDEE | ASQEEMSTRF | EKEKKESLFV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VSGDTFHSFP | HSDFEDDMII | TSDVSRYIED | PGFGYEDFAR | RGEEHLPTFR | AQDYTWENHG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FSLVNRLYSD | IGHLLDEKFR | MVYNLTYNTM | ATHEDVDTTM | LRRALFNYVH | CMFGIRYDDY |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DYGEVNQLLE | RSLKVYIKTV | TCYPERTTKR | MYDSYWRQFK | HSEKVHVNLL | LMEARMQAEL |
| 490 | |||||
| LYALRAITRH | LT |