P43686
Gene name |
PSMC4 (MIP224, TBP7) |
Protein name |
26S proteasome regulatory subunit 6B |
Names |
26S proteasome AAA-ATPase subunit RPT3, MB67-interacting protein, MIP224, Proteasome 26S subunit ATPase 4, Tat-binding protein 7, TBP-7 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5704 |
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
61 structures for P43686
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2DVW | X-ray | 230 A | B | 337-418 | PDB |
| 5GJQ | EM | 450 A | K | 1-418 | PDB |
| 5GJR | EM | 350 A | K/y | 1-418 | PDB |
| 5L4G | EM | 402 A | K | 1-418 | PDB |
| 5LN3 | EM | 680 A | K | 1-418 | PDB |
| 5M32 | EM | 380 A | e | 1-418 | PDB |
| 5T0C | EM | 380 A | AD/BD | 1-418 | PDB |
| 5T0G | EM | 440 A | D | 1-418 | PDB |
| 5T0H | EM | 680 A | D | 1-418 | PDB |
| 5T0I | EM | 800 A | D | 1-418 | PDB |
| 5T0J | EM | 800 A | D | 1-418 | PDB |
| 5VFP | EM | 420 A | D | 39-418 | PDB |
| 5VFQ | EM | 420 A | D | 39-418 | PDB |
| 5VFR | EM | 490 A | D | 39-418 | PDB |
| 5VFS | EM | 360 A | D | 1-418 | PDB |
| 5VFT | EM | 700 A | D | 39-418 | PDB |
| 5VFU | EM | 580 A | D | 39-418 | PDB |
| 5VGZ | EM | 370 A | D | 39-145 | PDB |
| 5VHF | EM | 570 A | D | 39-406 | PDB |
| 5VHH | EM | 610 A | D | 39-406 | PDB |
| 5VHI | EM | 680 A | D | 39-406 | PDB |
| 5VHJ | EM | 850 A | D | 145-406 | PDB |
| 5VHM | EM | 830 A | D | 145-406 | PDB |
| 5VHN | EM | 730 A | D | 145-406 | PDB |
| 5VHO | EM | 830 A | D | 145-406 | PDB |
| 5VHP | EM | 790 A | D | 145-406 | PDB |
| 5VHQ | EM | 890 A | D | 145-406 | PDB |
| 5VHR | EM | 770 A | D | 145-406 | PDB |
| 5VHS | EM | 880 A | D | 39-406 | PDB |
| 6MSB | EM | 300 A | D | 1-418 | PDB |
| 6MSD | EM | 320 A | D | 1-418 | PDB |
| 6MSE | EM | 330 A | P/p | 152-198 | PDB |
| 6MSG | EM | 350 A | D | 1-418 | PDB |
| 6MSH | EM | 360 A | D | 1-418 | PDB |
| 6MSJ | EM | 330 A | D | 1-418 | PDB |
| 6MSK | EM | 320 A | D | 1-418 | PDB |
| 6WJD | EM | 480 A | D | 1-418 | PDB |
| 6WJN | EM | 570 A | D | 39-418 | PDB |
| 7QXN | EM | 370 A | D | 1-418 | PDB |
| 7QXP | EM | 360 A | D | 1-418 | PDB |
| 7QXU | EM | 430 A | D | 1-418 | PDB |
| 7QXW | EM | 410 A | D | 1-418 | PDB |
| 7QXX | EM | 440 A | D | 1-418 | PDB |
| 7QY7 | EM | 470 A | D | 1-418 | PDB |
| 7QYA | EM | 480 A | D | 1-418 | PDB |
| 7QYB | EM | 410 A | D | 1-418 | PDB |
| 7W37 | EM | 300 A | D | 1-418 | PDB |
| 7W38 | EM | 310 A | D | 1-418 | PDB |
| 7W39 | EM | 320 A | D | 1-418 | PDB |
| 7W3A | EM | 350 A | D | 1-418 | PDB |
| 7W3B | EM | 360 A | D | 1-418 | PDB |
| 7W3C | EM | 340 A | D | 1-418 | PDB |
| 7W3F | EM | 330 A | D | 1-418 | PDB |
| 7W3G | EM | 320 A | D | 1-418 | PDB |
| 7W3H | EM | 320 A | D | 1-418 | PDB |
| 7W3I | EM | 350 A | D | 1-418 | PDB |
| 7W3J | EM | 350 A | D | 1-418 | PDB |
| 7W3K | EM | 360 A | D | 1-418 | PDB |
| 7W3M | EM | 350 A | D | 1-418 | PDB |
| 8CVT | EM | 300 A | D | 1-418 | PDB |
| AF-P43686-F1 | Predicted | AlphaFoldDB |
189 variants for P43686
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1599725225 CA405845523 |
3 | E>G | No |
Ensembl ClinGen |
|
|
CA9438346 rs755938113 |
3 | E>K | No |
ExAC gnomAD ClinGen |
|
|
rs777701297 CA9438347 |
4 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA9438348 rs571861723 |
5 | G>R | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA405845533 rs571861723 |
5 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9438349 rs532888816 |
6 | I>V | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1599725257 CA405845554 |
8 | V>G | No |
Ensembl ClinGen |
|
|
rs202032108 CA308362320 |
8 | V>M | No |
1000Genomes ClinGen |
|
|
rs1319988474 CA405845568 |
10 | K>R | No |
gnomAD ClinGen |
|
| TCGA novel | 10 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746057682 CA9438351 |
11 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746057682 CA9438352 |
11 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 12 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775717764 CA9438353 |
12 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs775717764 CA405845580 |
12 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1260095206 CA405845612 |
15 | I>F | No |
gnomAD ClinGen |
|
|
CA9438376 rs773666439 |
15 | I>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA405845626 rs1409412450 |
17 | A>E | No |
gnomAD ClinGen |
|
|
CA405845627 rs1409412450 |
17 | A>G | No |
gnomAD ClinGen |
|
|
rs1409412450 CA405845628 |
17 | A>V | No |
ClinGen gnomAD |
|
|
rs746609399 CA308362414 |
20 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9438378 rs149889186 |
21 | S>A | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA405845651 rs1314952045 |
22 | R>Q | No |
ClinGen gnomAD |
|
|
rs1056775620 CA308362415 |
22 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1407818738 CA405845656 |
23 | P>L | No |
TOPMed gnomAD ClinGen |
|
|
CA9438379 rs752426616 |
23 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9438380 rs760361475 |
25 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9438383 rs368678447 |
26 | G>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA405845677 rs1275903399 |
27 | L>M | No |
ClinGen gnomAD |
|
|
CA308362416 rs143871854 |
28 | S>F | No |
ClinGen ESP gnomAD |
|
|
CA9438384 rs778917527 |
28 | S>P | No |
ExAC gnomAD ClinGen |
|
|
CA9438385 rs11542842 |
29 | F>L | No |
ExAC gnomAD ClinGen |
|
|
rs1282080774 CA405845698 |
31 | G>S | No |
gnomAD ClinGen |
|
|
CA405845727 rs1406619574 |
35 | E>A | No |
ClinGen Ensembl |
|
|
CA405845732 rs779477313 |
36 | D>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs779477313 CA9438387 |
36 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405845751 rs1471451056 |
38 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs769054705 CA9438389 |
39 | D>A | No |
ExAC ClinGen |
|
|
rs1056764825 CA308362417 |
41 | Y>C | No |
ClinGen TOPMed |
|
|
rs1056764825 CA9438391 |
41 | Y>S | No |
TOPMed ClinGen |
|
|
CA405845771 rs1454725432 |
42 | S>G | No |
ClinGen gnomAD |
|
|
CA405845770 rs1454725432 |
42 | S>R | No |
ClinGen gnomAD |
|
|
rs267605481 CA9438394 |
43 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368991633 CA405845780 |
43 | R>H | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 45 | K>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA308362431 rs11542835 |
50 | E>* | No |
Ensembl ClinGen |
|
|
CA405845853 rs1568373872 |
52 | E>K | No |
Ensembl ClinGen |
|
|
rs1341005677 CA405845903 |
56 | V>M | No |
gnomAD ClinGen |
|
|
rs941422179 CA308362433 |
59 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 63 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405846060 rs1295252189 |
66 | K>R | No |
ClinGen TOPMed |
|
|
CA405846117 rs1193967666 |
70 | K>R | No |
gnomAD ClinGen |
|
|
rs1042989 CA308362435 |
73 | L>F | No |
Ensembl ClinGen |
|
|
rs1348525158 CA405846183 |
75 | A>S | No |
TOPMed ClinGen |
|
|
rs746586299 CA9438419 |
81 | R>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA405846269 rs1475354799 |
81 | R>Q | No |
ClinGen TOPMed |
|
|
rs867139141 CA308362438 |
98 | Q>K | No |
Ensembl ClinGen |
|
|
rs765036607 CA9438423 |
103 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1412525811 CA405846572 |
104 | G>D | No |
ClinGen gnomAD |
|
|
CA9438425 rs140491901 |
106 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 108 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405846611 rs1568373999 |
108 | G>R | No |
Ensembl ClinGen |
|
|
CA405847352 rs1221112732 |
112 | Y>S | No |
ClinGen TOPMed |
|
|
CA405847373 rs1212835731 |
114 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA9438447 rs774471115 |
115 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA405847451 rs1277582543 |
120 | D>E | No |
ClinGen TOPMed |
|
|
CA405847455 rs1365063456 |
121 | R>G | No |
TOPMed gnomAD ClinGen |
|
|
CA9438449 rs767656273 |
121 | R>Q | No |
ExAC gnomAD ClinGen |
|
|
CA405847457 rs1365063456 |
121 | R>W | No |
TOPMed gnomAD ClinGen |
|
|
CA405847536 rs764287802 |
127 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867947770 CA308362648 |
128 | A>G | No |
ClinGen Ensembl |
|
|
CA9438454 rs757607736 |
130 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA308362649 rs11542836 |
131 | A>V | No |
ClinGen Ensembl |
|
|
CA405847659 rs1568374866 |
137 | N>T | No |
ClinGen Ensembl |
|
|
CA308362652 rs548954243 |
142 | V>L | No |
TOPMed gnomAD ClinGen |
|
|
CA308362651 rs548954243 |
142 | V>M | No |
TOPMed gnomAD ClinGen |
|
|
rs1480163606 CA405847758 |
145 | P>L | No |
gnomAD ClinGen |
|
| TCGA novel | 146 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA308362654 rs963297891 |
146 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
| rs747871663 | 146 | E>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs994627073 CA308362655 |
148 | D>A | No |
ClinGen Ensembl |
|
|
CA405847787 rs1467082214 |
148 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 149 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9438463 rs749080344 |
150 | S>T | No |
ExAC gnomAD ClinGen |
|
|
CA405847853 TCGA novel rs1306116698 |
152 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA9438464 rs369260443 |
152 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1455313071 CA405847891 |
155 | T>I | No |
ClinGen gnomAD |
|
|
rs1026112829 CA308362657 |
156 | S>L | No |
ClinGen Ensembl |
|
|
rs1396812510 CA405847951 |
157 | D>G | No |
gnomAD ClinGen |
|
|
CA308362663 rs987953937 |
161 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs775335705 CA9438485 |
163 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA9438484 rs772119099 |
163 | M>T | No |
ExAC gnomAD ClinGen |
|
|
rs781289010 CA9438486 |
165 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA9438487 rs768573885 |
165 | A>V | No |
ExAC TOPMed ClinGen |
|
|
CA405848084 rs1213112647 |
167 | I>N | No |
ClinGen gnomAD |
|
| TCGA novel | 167 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405848116 rs1485996947 |
170 | M>V | No |
ClinGen gnomAD |
|
|
rs1037387156 CA308362665 |
172 | I>N | No |
TOPMed ClinGen |
|
|
CA9438490 rs373413671 |
172 | I>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 174 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763358989 CA9438492 |
176 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399452896 CA405848230 COSM364471 |
178 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA405848314 rs1199469653 |
185 | L>I | No |
TOPMed ClinGen |
|
|
rs763454110 CA9438496 |
186 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA405848338 rs1355040101 |
187 | H>Y | No |
gnomAD ClinGen |
|
|
rs1381319283 CA405848368 COSM3823089 |
189 | E>K | Variant assessed as Somatic; 4.626e-05 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA405848380 rs1221942654 |
190 | L>F | No |
gnomAD ClinGen |
|
|
CA9438499 rs778764576 |
192 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA405848495 rs1204244181 |
195 | G>C | No |
ClinGen gnomAD |
|
|
rs754861365 CA9438527 |
197 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA405848532 rs1394490377 |
198 | P>A | No |
ClinGen gnomAD |
|
|
CA405848533 rs1394490377 |
198 | P>S | No |
ClinGen gnomAD |
|
|
rs372675589 CA9438529 |
199 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA308362677 rs372675589 |
199 | P>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA9438532 rs777852571 |
200 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel rs765768285 |
200 | R>P | Variant assessed as Somatic; impact. Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1408045834 CA405848560 |
200 | R>Q | No |
ClinGen gnomAD |
|
|
CA308362678 rs576365261 |
202 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
CA405848750 rs1287075186 |
216 | A>S | No |
TOPMed ClinGen |
|
|
rs774574844 CA9438535 |
218 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1337010415 CA405848828 |
222 | H>R | No |
gnomAD ClinGen |
|
| TCGA novel | 226 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9438555 rs776014996 |
226 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1185494356 CA405849943 COSM996506 |
229 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA9438561 rs751185836 |
234 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1302621302 CA405849993 |
235 | F>L | No |
TOPMed ClinGen |
|
| TCGA novel | 245 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405850068 rs1435001607 |
246 | M>I | No |
ClinGen TOPMed |
|
|
CA9438564 rs752494519 |
248 | R>Q | No |
ExAC gnomAD ClinGen |
|
|
rs767242949 CA405850077 |
248 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405850105 rs1428488237 |
252 | R>H | No |
TOPMed ClinGen |
|
|
rs753838327 CA9438567 |
257 | N>I | No |
ClinGen ExAC |
|
|
CA9438568 rs757396939 |
258 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1568376985 CA405850149 |
259 | P>S | No |
Ensembl ClinGen |
|
|
CA9438570 rs746051791 |
261 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA405850182 rs1484813224 |
264 | I>V | No |
ClinGen gnomAD |
|
|
rs1267553715 CA405850197 |
266 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 269 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 276 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405850282 rs1469223244 |
278 | Q>* | No |
gnomAD ClinGen |
|
|
CA405850281 rs1469223244 |
278 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 278 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1568377136 CA405850318 |
282 | D>N | No |
Ensembl ClinGen |
|
|
rs1599730066 CA405850346 |
285 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 297 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1052083828 CA308363201 |
304 | N>I | No |
Ensembl ClinGen |
|
|
rs1599730180 CA405850512 |
307 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 312 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9438626 rs766510583 |
313 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1265453769 CA405850559 |
314 | A>G | No |
TOPMed gnomAD ClinGen |
|
|
rs1599730196 CA405850569 |
316 | T>P | No |
Ensembl ClinGen |
|
|
rs28366821 CA308363211 |
318 | D>Y | No |
Ensembl ClinGen |
|
|
rs370184381 CA9438627 |
319 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM996509 rs756474011 CA9438631 |
323 | R>W | endometrium Variant assessed as Somatic; 4.639e-05 impact. [Cosmic, NCI-TCGA] | No |
ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
COSM996510 rs753685467 CA9438634 |
329 | R>C | Variant assessed as Somatic; 4.63e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA405850644 rs1401024659 |
329 | R>H | No |
TOPMed ClinGen |
|
|
rs779468222 CA9438635 |
332 | E>Q | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 333 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746586422 CA9438636 |
338 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 345 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405850796 rs1227604370 |
351 | K>R | No |
gnomAD ClinGen |
|
|
CA405850806 rs1274114311 |
352 | M>I | No |
gnomAD ClinGen |
|
|
rs376905637 CA9438640 |
355 | S>P | No |
ESP ExAC gnomAD ClinGen |
|
|
rs773158269 CA9438641 CA405850834 |
356 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA405850847 rs1284921126 |
358 | V>A | No |
ClinGen gnomAD |
|
|
CA9438642 rs762917882 |
363 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs745847777 CA9438662 |
365 | A>S | No |
ExAC gnomAD ClinGen |
|
|
CA9438663 rs771995511 |
368 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs777406855 CA9438664 |
369 | K>T | No |
ExAC gnomAD ClinGen |
|
|
rs760738061 CA9438665 |
375 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs763366030 CA9438688 |
382 | S>G | No |
ExAC gnomAD ClinGen |
|
|
rs766968064 CA9438689 |
383 | G>A | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 386 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9438690 rs752127743 |
388 | R>C | No |
ExAC gnomAD ClinGen |
|
|
CA405851355 rs1192629472 |
388 | R>H | No |
ClinGen gnomAD |
|
|
CA405851356 rs1192629472 |
388 | R>P | No |
gnomAD ClinGen |
|
|
rs1424317805 CA405851389 |
391 | R>C | No |
TOPMed gnomAD ClinGen |
|
|
CA405851394 rs1478729210 |
391 | R>H | No |
gnomAD ClinGen |
|
|
CA405851407 rs1461456117 |
392 | Y>C | No |
TOPMed ClinGen |
|
|
CA9438692 rs374359098 |
393 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374359098 CA9438693 |
393 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778782949 CA9438695 |
394 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405851481 rs1358196230 |
398 | D>G | No |
ClinGen gnomAD |
|
|
rs1415964920 CA405851507 |
400 | E>K | No |
TOPMed ClinGen |
|
|
rs780086067 CA9438699 |
406 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1357086595 CA405851660 |
411 | E>G | No |
ClinGen gnomAD |
|
|
CA9438701 rs768676877 |
411 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568377715 CA405851680 |
412 | Q>H | No |
ClinGen Ensembl |
|
|
CA405851764 rs1488078565 |
418 | K>T | No |
gnomAD ClinGen |
No associated diseases with P43686
5 regional properties for P43686
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | AAA+ ATPase domain | 198 - 337 | IPR003593 |
| domain | ATPase, AAA-type, core | 202 - 335 | IPR003959 |
| conserved_site | ATPase, AAA-type, conserved site | 305 - 323 | IPR003960 |
| domain | Proteasomal ATPase OB C-terminal domain | 89 - 144 | IPR032501 |
| domain | AAA ATPase, AAA+ lid domain | 358 - 401 | IPR041569 |
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| cytosolic proteasome complex | A proteasome complex found in the cytosol of a cell. |
| inclusion body | A discrete intracellular part formed of aggregated molecules such as proteins or other biopolymers. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| 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. |
| proteasome accessory complex | A protein complex, that caps one or both ends of the proteasome core complex and regulates entry into, or exit from, the proteasome core complex. |
| proteasome complex | A large multisubunit complex which catalyzes protein degradation, found in eukaryotes, archaea and some bacteria. In eukaryotes, this complex consists of the barrel shaped proteasome core complex and one or two associated proteins or complexes that act in regulating entry into or exit from the core. |
| proteasome regulatory particle, base subcomplex | The subcomplex of the proteasome regulatory particle that directly associates with the proteasome core complex. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| proteasome-activating activity | Catalysis of the reaction: ATP + H2O = ADP + phosphate, which promotes unfolding of protein substrates, and channel opening of the core proteasome. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| blastocyst development | The process whose specific outcome is the progression of the blastocyst over time, from its formation to the mature structure. The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm. |
| proteasome-mediated 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, and mediated by the proteasome. |
| proteolysis | The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P33298 | RPT3 | 26S proteasome regulatory subunit 6B homolog | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P62333 | PSMC6 | 26S proteasome regulatory subunit 10B | Homo sapiens (Human) | PR |
| P17980 | PSMC3 | 26S proteasome regulatory subunit 6A | Homo sapiens (Human) | PR |
| P35998 | PSMC2 | 26S proteasome regulatory subunit 7 | Homo sapiens (Human) | PR |
| P62195 | PSMC5 | 26S proteasome regulatory subunit 8 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEEIGILVEK | AQDEIPALSV | SRPQTGLSFL | GPEPEDLEDL | YSRYKKLQQE | LEFLEVQEEY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IKDEQKNLKK | EFLHAQEEVK | RIQSIPLVIG | QFLEAVDQNT | AIVGSTTGSN | YYVRILSTID |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RELLKPNASV | ALHKHSNALV | DVLPPEADSS | IMMLTSDQKP | DVMYADIGGM | DIQKQEVREA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VELPLTHFEL | YKQIGIDPPR | GVLMYGPPGC | GKTMLAKAVA | HHTTAAFIRV | VGSEFVQKYL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GEGPRMVRDV | FRLAKENAPA | IIFIDEIDAI | ATKRFDAQTG | ADREVQRILL | ELLNQMDGFD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QNVNVKVIMA | TNRADTLDPA | LLRPGRLDRK | IEFPLPDRRQ | KRLIFSTITS | KMNLSEEVDL |
| 370 | 380 | 390 | 400 | 410 | |
| EDYVARPDKI | SGADINSICQ | ESGMLAVREN | RYIVLAKDFE | KAYKTVIKKD | EQEHEFYK |