Q13616
Gene name |
CUL1 |
Protein name |
Cullin-1 |
Names |
CUL-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8454 |
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
29 structures for Q13616
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1LDJ | X-ray | 300 A | A | 17-776 | PDB |
| 1LDK | X-ray | 310 A | PDB | ||
| 1U6G | X-ray | 310 A | A | 1-776 | PDB |
| 3RTR | X-ray | 321 A | A/C/E/G | 411-776 | PDB |
| 3TDU | X-ray | 150 A | C/D | 702-776 | PDB |
| 3TDZ | X-ray | 200 A | C/D | 702-776 | PDB |
| 4F52 | X-ray | 300 A | A/C | 411-690 | PDB |
| 4P5O | X-ray | 311 A | A/C | 411-776 | PDB |
| 5V89 | X-ray | 155 A | C | 702-776 | PDB |
| 6TTU | EM | 370 A | C | 1-776 | PDB |
| 6WCQ | EM | 850 A | D | 1-434 | PDB |
| 7B5L | EM | 380 A | C | 1-776 | PDB |
| 7B5M | EM | 391 A | C | 1-776 | PDB |
| 7B5N | EM | 360 A | C | 1-776 | PDB |
| 7B5R | EM | 380 A | C | 1-776 | PDB |
| 7B5S | EM | 360 A | C | 1-776 | PDB |
| 7Z8R | EM | 270 A | C | 1-776 | PDB |
| 7Z8T | EM | 300 A | C | 1-776 | PDB |
| 7Z8V | EM | 270 A | C | 1-776 | PDB |
| 7ZBW | EM | 350 A | C | 1-776 | PDB |
| 7ZBZ | EM | 310 A | C | 1-776 | PDB |
| 8CAF | X-ray | 266 A | E/H | 698-776 | PDB |
| 8CDJ | EM | 340 A | C | 1-776 | PDB |
| 8CDK | EM | 332 A | C | 1-776 | PDB |
| 8OR0 | EM | 310 A | A | 1-776 | PDB |
| 8OR2 | EM | 320 A | A | 1-776 | PDB |
| 8OR3 | EM | 290 A | A | 1-776 | PDB |
| 8OR4 | EM | 380 A | A | 1-776 | PDB |
| AF-Q13616-F1 | Predicted | AlphaFoldDB |
244 variants for Q13616
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs746247997 CA4547055 |
2 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA369929892 rs1345891356 |
4 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA369929893 rs1345891356 |
4 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4547058 rs748809924 |
5 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4547057 rs780747223 |
5 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239708834 CA369929900 |
6 | S>N | No |
ClinGen gnomAD |
|
|
rs1350913287 CA369929916 |
8 | N>I | No |
ClinGen gnomAD |
|
|
CA369929923 rs1563152499 |
9 | P>S | No |
ClinGen Ensembl |
|
|
CA4547061 rs761308648 |
10 | H>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 10 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772982147 CA4547063 |
13 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1189777955 CA369929959 |
14 | Q>H | No |
ClinGen gnomAD |
|
|
CA369929964 rs1267128009 |
15 | I>T | No |
ClinGen gnomAD |
|
|
CA4547065 rs139459592 |
22 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs968798254 CA169030036 |
23 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 25 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA169030060 rs868836509 |
27 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 28 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs978842867 CA169030062 |
29 | Q>R | No |
ClinGen Ensembl |
|
|
rs1390951361 CA369930066 |
30 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 31 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1366683687 CA369930093 |
34 | R>Q | No |
ClinGen gnomAD |
|
|
CA369930091 rs764038122 |
34 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA169030066 rs879040925 |
39 | K>* | No |
ClinGen Ensembl |
|
|
rs1265190217 CA369930163 |
44 | E>K | No |
ClinGen gnomAD |
|
|
rs1481189304 CA369930171 |
45 | L>I | No |
ClinGen gnomAD |
|
|
CA169048463 rs902254876 |
51 | N>D | No |
ClinGen TOPMed |
|
|
CA169048483 rs779312688 |
57 | H>N | No |
ClinGen Ensembl |
|
|
rs1397876437 CA369930728 |
60 | N>H | No |
ClinGen gnomAD |
|
|
rs750624124 CA4547090 |
62 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4547091 rs756434421 |
62 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs766780739 CA4547092 |
63 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA369930767 rs1340683303 |
66 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1364353702 CA369930781 |
68 | P>L | No |
ClinGen TOPMed |
|
|
CA4547096 rs375794200 |
70 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4547097 rs757956155 |
72 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369930841 rs1287984477 |
77 | T>I | No |
ClinGen TOPMed |
|
|
rs777290710 CA4547098 |
78 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA4547099 rs777290710 |
78 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA369930846 rs1208138419 |
79 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4547100 rs370437035 |
82 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1012140487 CA169048607 |
91 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1191816111 CA369930976 |
97 | K>N | No |
ClinGen gnomAD |
|
|
CA369930979 rs1350257760 |
98 | N>Y | No |
ClinGen TOPMed |
|
|
CA4547101 rs776233411 |
99 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1421172004 CA369930986 |
99 | Y>H | No |
ClinGen gnomAD |
|
|
rs1173080224 CA369930994 |
100 | L>S | No |
ClinGen gnomAD |
|
|
rs546220050 CA4547102 |
102 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 103 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4547118 rs746537446 |
109 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 112 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs912856358 CA169050870 |
113 | E>G | No |
ClinGen TOPMed |
|
|
rs1310697321 CA369931110 |
114 | S>T | No |
ClinGen gnomAD |
|
|
CA369931117 rs1238150632 |
115 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA369931113 rs1379196085 |
115 | V>I | No |
ClinGen gnomAD |
|
|
rs780965142 CA4547120 |
117 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs112964248 CA169050878 |
119 | Y>C | No |
ClinGen Ensembl |
|
|
CA169050882 rs896282269 |
125 | D>H | No |
ClinGen TOPMed |
|
|
CA169050886 rs896282269 |
125 | D>Y | No |
ClinGen TOPMed |
|
|
CA369931200 rs1192915299 |
127 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA169050890 rs535567339 |
132 | V>G | No |
ClinGen 1000Genomes |
|
|
CA169050894 rs201555827 |
140 | L>P | No |
ClinGen 1000Genomes |
|
|
CA369931331 rs1297726612 COSM452564 |
146 | R>C | Variant assessed as Somatic; impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 152 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200692499 CA169050917 |
158 | E>A | No |
ClinGen Ensembl |
|
|
COSM1087020 rs760900206 CA369931440 |
161 | S>L | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4547127 rs760900206 |
161 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483290618 CA369931725 |
163 | A>V | No |
ClinGen gnomAD |
|
|
rs1485114214 CA369931793 |
169 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA169052191 rs932915000 |
169 | D>N | No |
ClinGen Ensembl |
|
|
CA4547157 rs764554309 |
175 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA369931995 rs1358790133 |
181 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 182 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4547182 rs200013850 |
196 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA4547204 rs759209209 |
213 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA369932508 rs1323876230 |
224 | T>A | No |
ClinGen gnomAD |
|
|
CA169052813 rs1053588012 |
224 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1219738962 CA369932533 |
226 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 229 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369932622 rs1584796859 |
233 | E>G | No |
ClinGen Ensembl |
|
|
CA169052824 rs74934754 |
237 | L>F | No |
ClinGen Ensembl |
|
|
rs1023480812 CA169052820 |
237 | L>W | No |
ClinGen TOPMed |
|
| TCGA novel | 237 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1201111608 CA369932729 |
243 | F>I | No |
ClinGen gnomAD |
|
| TCGA novel | 245 | T>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752534699 CA4547206 |
248 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs764071543 CA4547208 |
256 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 267 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775057054 CA369707382 |
267 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs775057054 CA4547226 |
267 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA369707385 rs1176100705 |
268 | L>V | No |
ClinGen gnomAD |
|
|
rs368571591 CA168859990 |
269 | L>R | No |
ClinGen ESP |
|
|
CA369707400 rs1311947691 |
270 | E>D | No |
ClinGen gnomAD |
|
|
CA369707406 rs1584800895 |
271 | E>G | No |
ClinGen Ensembl |
|
|
rs1230503242 CA369707410 |
272 | Q>K | No |
ClinGen TOPMed |
|
|
CA369707433 rs1584800902 |
275 | V>G | No |
ClinGen Ensembl |
|
|
rs1584800909 CA369707447 |
277 | V>G | No |
ClinGen Ensembl |
|
|
rs1004256867 CA168860006 |
281 | E>K | No |
ClinGen Ensembl |
|
|
rs1037111268 CA168860015 |
282 | S>G | No |
ClinGen Ensembl |
|
|
rs1341513199 CA369707491 |
283 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 284 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4547228 rs763757566 |
285 | D>H | No |
ClinGen ExAC |
|
|
CA369707526 rs1563163316 |
288 | A>G | No |
ClinGen Ensembl |
|
|
rs1339244491 CA369707586 |
297 | E>K | No |
ClinGen gnomAD |
|
|
rs765699461 CA168860065 |
305 | T>A | No |
ClinGen Ensembl |
|
|
rs1287095638 CA369707686 |
310 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 312 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA168860075 rs996061394 |
313 | A>S | No |
ClinGen Ensembl |
|
|
rs1270169632 CA369707774 |
320 | G>E | No |
ClinGen TOPMed |
|
|
rs1584801715 CA369707779 |
321 | R>C | No |
ClinGen Ensembl |
|
|
CA369707780 rs1189978345 COSM205829 |
321 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1310175647 CA369707783 CA369707785 |
322 | M>L | No |
ClinGen gnomAD |
|
|
rs1351484109 CA369707804 |
324 | N>S | No |
ClinGen gnomAD |
|
|
CA4547250 rs760633181 |
330 | Q>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 339 | L>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1441124789 CA369707944 |
345 | H>D | No |
ClinGen gnomAD |
|
|
rs754321883 CA168860976 |
348 | G>V | No |
ClinGen Ensembl |
|
|
rs902742776 CA369708001 |
353 | E>A | No |
ClinGen TOPMed |
|
|
CA168860986 rs902742776 |
353 | E>G | No |
ClinGen TOPMed |
|
|
rs1283415610 CA369708015 |
355 | C>G | No |
ClinGen TOPMed |
|
|
CA4547253 rs148771366 |
358 | A>S | No |
ClinGen ESP ExAC TOPMed |
|
|
CA4547294 rs750720092 |
365 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA168877067 rs994348862 |
370 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA369708714 rs994348862 |
370 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA168877079 rs17853287 |
375 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 376 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1235772782 CA369708774 |
378 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 380 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 382 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755440894 CA4547298 |
383 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA369708811 rs1378083870 |
384 | A>T | No |
ClinGen TOPMed |
|
|
CA4547299 rs778333921 |
385 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4547300 rs752259434 |
386 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs758044206 CA4547301 |
387 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777447474 CA168877112 |
388 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA168877113 rs753880174 |
389 | A>T | No |
ClinGen Ensembl |
|
|
CA4547305 rs79484500 |
394 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs76864767 CA168877120 |
396 | D>Y | No |
ClinGen Ensembl |
|
|
rs780187389 CA4547327 |
401 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs749259569 CA4547328 |
404 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs772237633 CA4547329 |
405 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA369708970 rs1337343665 |
406 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4547331 rs747191601 |
407 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 410 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs539058564 CA4547333 |
411 | M>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 423 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 424 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 431 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4547354 rs770108110 |
445 | T>A | No |
ClinGen ExAC |
|
|
CA369709311 rs1233861672 |
452 | V>I | No |
ClinGen gnomAD |
|
|
rs1225307892 CA369709323 |
453 | F>L | No |
ClinGen gnomAD |
|
| rs1214199379 | 455 | Y>* | No | gnomAD | |
|
CA369709339 rs1254354937 |
455 | Y>* | No |
ClinGen gnomAD |
|
|
CA369709341 rs1466701882 |
456 | I>L | No |
ClinGen gnomAD |
|
| TCGA novel | 463 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1007180929 CA168879552 |
464 | K>N | No |
ClinGen Ensembl |
|
|
rs973384269 CA168879559 |
466 | Y>F | No |
ClinGen TOPMed |
|
|
rs776344569 CA168879557 |
466 | Y>H | No |
ClinGen Ensembl |
|
| TCGA novel | 466 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1329606353 CA369709490 |
476 | H>P | No |
ClinGen gnomAD |
|
|
CA369709499 rs1337802806 |
477 | Q>R | No |
ClinGen gnomAD |
|
|
rs762413475 CA4547376 |
483 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294881290 CA369709633 |
494 | Q>K | No |
ClinGen gnomAD |
|
| TCGA novel | 499 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369709706 rs1340788094 |
504 | L>V | No |
ClinGen gnomAD |
|
|
rs1273553414 CA369709762 |
511 | I>T | No |
ClinGen gnomAD |
|
|
rs749545118 CA4547390 |
512 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1194452175 CA369709793 |
516 | D>H | No |
ClinGen gnomAD |
|
|
CA168881066 rs972329326 |
517 | L>M | No |
ClinGen TOPMed |
|
|
CA369709809 rs1294472208 |
518 | N>S | No |
ClinGen TOPMed |
|
|
rs772840982 CA4547395 |
522 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 526 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369709890 rs1563169853 |
529 | E>G | No |
ClinGen Ensembl |
|
|
CA4547399 rs759266941 |
530 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs776376224 CA4547398 |
530 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 540 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 542 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA168882202 rs17855577 |
550 | S>F | No |
ClinGen Ensembl |
|
|
rs151286359 CA4547422 |
552 | T>I | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 552 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 553 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369272126 CA168882761 |
561 | R>H | No |
ClinGen ESP |
|
|
rs767552872 CA4547440 |
567 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs982169904 CA369710202 |
571 | A>P | No |
ClinGen gnomAD |
|
|
rs982169904 CA168882826 |
571 | A>S | No |
ClinGen gnomAD |
|
|
rs1211952562 CA369710216 |
573 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs142906551 CA4547442 |
573 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs765252536 CA4547444 |
577 | R>* | No |
ClinGen ExAC gnomAD |
|
|
COSM1087027 rs758702023 CA4547445 |
580 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 581 | W>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4547447 rs752032968 |
581 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs200852688 CA168882894 |
588 | G>A | No |
ClinGen 1000Genomes |
|
|
rs1236199581 CA369710337 |
591 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs201213491 CA168882896 |
592 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs201213491 CA4547450 |
592 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1584820852 CA369710395 |
599 | Y>H | No |
ClinGen Ensembl |
|
|
CA369710397 rs1348238404 |
599 | Y>S | No |
ClinGen gnomAD |
|
|
rs1236894600 CA369710445 |
604 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA168885195 rs1017360209 |
609 | A>S | No |
ClinGen Ensembl |
|
|
rs768981099 CA4547482 |
610 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA168885209 rs761975125 |
613 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 614 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA168885232 rs199545066 |
616 | T>A | No |
ClinGen 1000Genomes |
|
|
CA168885238 COSM1087028 rs997347716 |
616 | T>M | Variant assessed as Somatic; 4.63e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA4547487 rs761236642 |
618 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 620 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4547488 rs766907724 |
622 | V>L | No |
ClinGen ExAC |
|
|
rs754435224 CA4547490 |
627 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1315677008 CA369710620 |
630 | Q>R | No |
ClinGen TOPMed |
|
|
CA369710664 rs1344797871 |
634 | D>V | No |
ClinGen gnomAD |
|
|
CA168889517 rs1052381286 |
635 | I>M | No |
ClinGen TOPMed |
|
|
CA4547515 rs140378495 |
637 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369710792 rs1203503228 |
651 | L>F | No |
ClinGen gnomAD |
|
|
rs1251498342 CA369710795 |
652 | E>Q | No |
ClinGen gnomAD |
|
|
rs761564930 CA369710816 |
654 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369710831 rs1393145921 |
656 | A>V | No |
ClinGen gnomAD |
|
|
rs1366801810 CA369710896 |
665 | P>L | No |
ClinGen gnomAD |
|
|
rs1472545470 CA369710908 |
667 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs767366101 CA4547535 |
669 | I>T | No |
ClinGen ExAC TOPMed |
|
|
CA369710928 rs1451120486 |
670 | K>I | No |
ClinGen gnomAD |
|
|
CA4547537 rs756084602 |
671 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs200674332 CA369710944 |
672 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA369710938 rs1428028325 |
672 | Y>N | No |
ClinGen gnomAD |
|
|
CA4547539 rs753835928 |
673 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 674 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781441428 CA4547564 |
682 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 685 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 691 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4547567 rs780476210 |
693 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA168895078 rs34787741 |
698 | T>P | No |
ClinGen Ensembl |
|
|
rs1159726594 CA369711165 |
701 | K>R | No |
ClinGen gnomAD |
|
|
rs1251072526 CA369711178 |
703 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA168895895 rs754478318 |
719 | M>T | No |
ClinGen Ensembl |
|
| TCGA novel | 719 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759426268 CA4547595 |
721 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1584828702 CA369711343 |
724 | V>G | No |
ClinGen Ensembl |
|
|
rs868117336 CA168895925 |
729 | Q>R | No |
ClinGen Ensembl |
|
|
CA4547598 rs762885752 COSM1448965 |
733 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1181287202 CA369711419 |
736 | T>P | No |
ClinGen gnomAD |
|
|
rs1365947639 CA369711532 |
751 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 752 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765684261 CA4547624 |
765 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 768 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4547625 rs143079007 |
773 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA |
No associated diseases with Q13616
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cullin-RING ubiquitin ligase complex | Any ubiquitin ligase complex in which the catalytic core consists of a member of the cullin family and a RING domain protein; the core is associated with one or more additional proteins that confer substrate specificity. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| Parkin-FBXW7-Cul1 ubiquitin ligase complex | A ubiquitin ligase complex containing Parkin (PARK2), the F-box protein FBXW7 (also called SEL-10) and a cullin from the Cul1 subfamily; substrate specificity is conferred by the F-box protein. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| SCF ubiquitin ligase complex | A ubiquitin ligase complex in which a cullin from the Cul1 subfamily and a RING domain protein form the catalytic core; substrate specificity is conferred by a Skp1 adaptor and an F-box protein. SCF complexes are involved in targeting proteins for degradation by the proteasome. The best characterized complexes are those from yeast and mammals (with core subunits named Cdc53/Cul1, Rbx1/Hrt1/Roc1). |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein-macromolecule adaptor activity | The binding activity of a protein that brings together two or more macromolecules in contact, permitting those molecules to function in a coordinated way. The adaptor can bring together two proteins, or a protein and another macromolecule such as a lipid or a nucleic acid. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| animal organ morphogenesis | Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. |
| cell population proliferation | The multiplication or reproduction of cells, resulting in the expansion of a cell population. |
| G1/S transition of mitotic cell cycle | The mitotic cell cycle transition by which a cell in G1 commits to S phase. The process begins with the build up of G1 cyclin-dependent kinase (G1 CDK), resulting in the activation of transcription of G1 cyclins. The process ends with the positive feedback of the G1 cyclins on the G1 CDK which commits the cell to S phase, in which DNA replication is initiated. |
| intrinsic apoptotic signaling pathway | The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway starts with reception of an intracellular signal (e.g. DNA damage, endoplasmic reticulum stress, oxidative stress etc.), and ends when the execution phase of apoptosis is triggered. The intrinsic apoptotic signaling pathway is crucially regulated by permeabilization of the mitochondrial outer membrane (MOMP). |
| protein K48-linked ubiquitination | A protein ubiquitination process in which a polymer of ubiquitin, formed by linkages between lysine residues at position 48 of the ubiquitin monomers, is added to a protein. K48-linked ubiquitination targets the substrate protein for degradation. |
| protein monoubiquitination | Addition of a single ubiquitin group to a protein. |
| protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
| SCF-dependent proteasomal ubiquitin-dependent protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, with ubiquitin-protein ligation catalyzed by an SCF (Skp1/Cul1/F-box protein) complex, and mediated by the proteasome. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q12018 | CDC53 | Cell division control protein 53 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q24311 | Cul1 | Cullin homolog 1 | Drosophila melanogaster (Fruit fly) | PR |
| Q13619 | CUL4A | Cullin-4A | Homo sapiens (Human) | PR |
| Q13620 | CUL4B | Cullin-4B | Homo sapiens (Human) | PR |
| P0CH31 | At1g43140 | Putative cullin-like protein 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSSTRSQNPH | GLKQIGLDQI | WDDLRAGIQQ | VYTRQSMAKS | RYMELYTHVY | NYCTSVHQSN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QARGAGVPPS | KSKKGQTPGG | AQFVGLELYK | RLKEFLKNYL | TNLLKDGEDL | MDESVLKFYT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QQWEDYRFSS | KVLNGICAYL | NRHWVRRECD | EGRKGIYEIY | SLALVTWRDC | LFRPLNKQVT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NAVLKLIEKE | RNGETINTRL | ISGVVQSYVE | LGLNEDDAFA | KGPTLTVYKE | SFESQFLADT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ERFYTRESTE | FLQQNPVTEY | MKKAEARLLE | EQRRVQVYLH | ESTQDELARK | CEQVLIEKHL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EIFHTEFQNL | LDADKNEDLG | RMYNLVSRIQ | DGLGELKKLL | ETHIHNQGLA | AIEKCGEAAL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NDPKMYVQTV | LDVHKKYNAL | VMSAFNNDAG | FVAALDKACG | RFINNNAVTK | MAQSSSKSPE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LLARYCDSLL | KKSSKNPEEA | ELEDTLNQVM | VVFKYIEDKD | VFQKFYAKML | AKRLVHQNSA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SDDAEASMIS | KLKQACGFEY | TSKLQRMFQD | IGVSKDLNEQ | FKKHLTNSEP | LDLDFSIQVL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SSGSWPFQQS | CTFALPSELE | RSYQRFTAFY | ASRHSGRKLT | WLYQLSKGEL | VTNCFKNRYT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LQASTFQMAI | LLQYNTEDAY | TVQQLTDSTQ | IKMDILAQVL | QILLKSKLLV | LEDENANVDE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VELKPDTLIK | LYLGYKNKKL | RVNINVPMKT | EQKQEQETTH | KNIEEDRKLL | IQAAIVRIMK |
| 730 | 740 | 750 | 760 | 770 | |
| MRKVLKHQQL | LGEVLTQLSS | RFKPRVPVIK | KCIDILIEKE | YLERVDGEKD | TYSYLA |