P17980
Gene name |
PSMC3 (TBP1) |
Protein name |
26S proteasome regulatory subunit 6A |
Names |
26S proteasome AAA-ATPase subunit RPT5, Proteasome 26S subunit ATPase 3, Proteasome subunit P50, Tat-binding protein 1, TBP-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5702 |
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
60 structures for P17980
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5GJQ | EM | 450 A | M | 1-439 | PDB |
| 5GJR | EM | 350 A | 0/M | 1-439 | PDB |
| 5L4G | EM | 402 A | M | 1-439 | PDB |
| 5LN3 | EM | 680 A | M | 1-439 | PDB |
| 5M32 | EM | 380 A | g | 1-439 | PDB |
| 5T0C | EM | 380 A | AF/BF | 1-439 | PDB |
| 5T0G | EM | 440 A | F | 1-439 | PDB |
| 5T0H | EM | 680 A | F | 1-439 | PDB |
| 5T0I | EM | 800 A | F | 1-439 | PDB |
| 5T0J | EM | 800 A | F | 1-439 | PDB |
| 5VFP | EM | 420 A | F | 44-439 | PDB |
| 5VFQ | EM | 420 A | F | 44-439 | PDB |
| 5VFR | EM | 490 A | F | 44-439 | PDB |
| 5VFS | EM | 360 A | F | 1-439 | PDB |
| 5VFT | EM | 700 A | F | 63-439 | PDB |
| 5VFU | EM | 580 A | F | 63-439 | PDB |
| 5VGZ | EM | 370 A | F | 53-167 | PDB |
| 5VHF | EM | 570 A | F | 53-432 | PDB |
| 5VHH | EM | 610 A | F | 53-432 | PDB |
| 5VHI | EM | 680 A | F | 53-432 | PDB |
| 5VHJ | EM | 850 A | F | 166-432 | PDB |
| 5VHM | EM | 830 A | F | 166-432 | PDB |
| 5VHN | EM | 730 A | F | 166-432 | PDB |
| 5VHO | EM | 830 A | F | 166-432 | PDB |
| 5VHP | EM | 790 A | F | 166-432 | PDB |
| 5VHQ | EM | 890 A | F | 166-432 | PDB |
| 5VHR | EM | 770 A | F | 166-432 | PDB |
| 5VHS | EM | 880 A | F | 53-432 | PDB |
| 6MSB | EM | 300 A | F | 1-439 | PDB |
| 6MSD | EM | 320 A | F | 1-439 | PDB |
| 6MSE | EM | 330 A | F | 1-439 | PDB |
| 6MSG | EM | 350 A | F | 1-439 | PDB |
| 6MSH | EM | 360 A | F | 1-439 | PDB |
| 6MSJ | EM | 330 A | F | 1-439 | PDB |
| 6MSK | EM | 320 A | F | 1-439 | PDB |
| 6WJD | EM | 480 A | F | 1-439 | PDB |
| 6WJN | EM | 570 A | F | 44-439 | PDB |
| 7QXN | EM | 370 A | F | 1-439 | PDB |
| 7QXP | EM | 360 A | F | 1-439 | PDB |
| 7QXU | EM | 430 A | F | 1-439 | PDB |
| 7QXW | EM | 410 A | F | 1-439 | PDB |
| 7QXX | EM | 440 A | F | 1-439 | PDB |
| 7QY7 | EM | 470 A | F | 1-439 | PDB |
| 7QYA | EM | 480 A | F | 1-439 | PDB |
| 7QYB | EM | 410 A | F | 1-439 | PDB |
| 7W37 | EM | 300 A | F | 1-439 | PDB |
| 7W38 | EM | 310 A | F | 1-439 | PDB |
| 7W39 | EM | 320 A | F | 1-439 | PDB |
| 7W3A | EM | 350 A | F | 1-439 | PDB |
| 7W3B | EM | 360 A | F | 1-439 | PDB |
| 7W3C | EM | 340 A | F | 1-439 | PDB |
| 7W3F | EM | 330 A | F | 1-439 | PDB |
| 7W3G | EM | 320 A | F | 1-439 | PDB |
| 7W3H | EM | 320 A | F | 1-439 | PDB |
| 7W3I | EM | 350 A | F | 1-439 | PDB |
| 7W3J | EM | 350 A | F | 1-439 | PDB |
| 7W3K | EM | 360 A | F | 1-439 | PDB |
| 7W3M | EM | 350 A | F | 1-439 | PDB |
| 8CVT | EM | 300 A | F | 1-439 | PDB |
| AF-P17980-F1 | Predicted | AlphaFoldDB |
182 variants for P17980
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1340810913 CA380323845 |
5 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs753672546 CA221703127 |
5 | P>S | No |
ClinGen Ensembl |
|
|
rs1335890825 CA380323838 |
6 | N>Y | No |
ClinGen gnomAD |
|
|
rs1361948663 CA380323814 |
7 | I>V | No |
ClinGen TOPMed |
|
|
rs988707465 CA221703113 |
8 | E>* | No |
ClinGen gnomAD |
|
|
rs1340695170 CA380323733 |
10 | P>L | No |
ClinGen TOPMed |
|
|
CA380323740 rs1297264196 |
10 | P>S | No |
ClinGen TOPMed |
|
|
CA380323730 rs1158532692 |
11 | V>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 12 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1565677298 CA599374619 |
13 | R>* | No |
ClinGen Ensembl |
|
|
CA380323687 rs1378379681 |
13 | R>P | No |
ClinGen TOPMed |
|
|
CA380323689 rs1378379681 |
13 | R>Q | No |
ClinGen TOPMed |
|
|
rs868175774 CA221703110 |
15 | E>* | No |
ClinGen Ensembl |
|
|
rs956664663 CA221703096 |
16 | K>M | No |
ClinGen gnomAD |
|
|
rs752975567 CA5976426 |
16 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867941932 CA380323594 |
18 | A>E | No |
ClinGen gnomAD |
|
|
CA221703063 rs867941932 |
18 | A>V | No |
ClinGen gnomAD |
|
|
CA380323520 rs1232330566 |
22 | D>N | No |
ClinGen gnomAD |
|
|
CA380323495 rs1565677231 |
23 | E>A | No |
ClinGen Ensembl |
|
|
CA221703040 rs1049340387 |
24 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs900279013 CA221702837 |
27 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA380322916 rs1174925152 |
30 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA380322885 rs750311677 |
32 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380322894 rs1472069059 |
32 | E>Q | No |
ClinGen gnomAD |
|
|
CA380322725 rs1313830216 |
45 | T>A | No |
ClinGen gnomAD |
|
|
rs1196122555 CA380322712 |
46 | R>Q | No |
ClinGen TOPMed |
|
|
CA380322714 rs1280839186 |
46 | R>W | No |
ClinGen gnomAD |
|
|
rs1222074899 CA380322683 |
49 | D>N | No |
ClinGen gnomAD |
|
|
rs1595893080 CA380322657 |
50 | S>R | No |
ClinGen Ensembl |
|
|
CA380322640 rs1595893077 |
52 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 53 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380322487 rs1263717885 |
58 | E>V | No |
ClinGen TOPMed |
|
|
rs1595892906 CA380322458 |
63 | T>P | No |
ClinGen Ensembl |
|
|
rs752556002 CA221702310 |
66 | L>P | No |
ClinGen Ensembl |
|
|
rs1187821591 CA380322426 |
67 | Q>K | No |
ClinGen gnomAD |
|
|
rs148236529 CA5976376 |
77 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380322236 rs773742401 |
80 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA221702296 rs371198726 |
81 | K>R | No |
ClinGen Ensembl |
|
|
rs770493899 CA5976374 |
83 | N>K | No |
ClinGen ExAC |
|
|
rs1265080785 CA380322193 |
84 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5976373 rs199670547 |
85 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA221702281 rs776087841 |
93 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1299178872 CA380322084 |
94 | I>T | No |
ClinGen gnomAD |
|
|
CA380321949 rs1194754191 |
97 | L>Q | No |
ClinGen TOPMed |
|
|
CA380321771 rs1199279072 |
106 | E>K | No |
ClinGen gnomAD |
|
|
CA221701939 COSM291422 rs771618920 |
110 | N>S | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1344871576 CA380321679 |
111 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA380321547 rs762341488 CA5976354 |
118 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA380321474 rs1219857571 |
122 | A>G | No |
ClinGen TOPMed |
|
|
rs1326721756 CA380321437 |
124 | I>M | No |
ClinGen gnomAD |
|
|
rs200092114 CA221701936 |
129 | R>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 129 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5976353 rs777306127 |
130 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 131 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373681287 CA5976336 |
131 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs962451746 CA221701782 |
137 | I>T | No |
ClinGen TOPMed |
|
|
CA5976333 rs764545358 |
138 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410358871 CA380321107 |
141 | D>G | No |
ClinGen gnomAD |
|
|
rs775489238 CA5976331 |
146 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs767646924 CA5976330 |
146 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774580136 CA5976328 |
151 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1229293901 CA380320086 |
157 | S>F | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA380320049 rs1273113578 |
163 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1037801545 CA221701490 |
166 | T>I | No |
ClinGen Ensembl |
|
|
rs768505267 CA5976307 |
167 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs775517283 CA5976305 |
171 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1595892587 CA380319992 |
172 | V>G | No |
ClinGen Ensembl |
|
|
rs1250096161 CA380319967 |
176 | E>Q | No |
ClinGen TOPMed |
|
|
CA380319955 rs1595892584 |
177 | V>G | No |
ClinGen Ensembl |
|
|
CA380319954 rs1422469931 |
178 | D>N | No |
ClinGen gnomAD |
|
|
rs748962337 CA5976300 |
179 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1270594616 CA380319939 |
180 | R>G | No |
ClinGen gnomAD |
|
|
rs201014352 CA221701462 |
182 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA5976299 rs149581795 |
182 | T>M | No |
ClinGen ESP ExAC |
|
|
rs201014352 CA380319925 |
182 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA221701449 rs111347741 |
183 | E>G | No |
ClinGen Ensembl |
|
|
rs768111213 CA5976296 |
184 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1052412219 CA221701414 |
188 | I>T | No |
ClinGen Ensembl |
|
| TCGA novel | 190 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1276593437 CA380319824 |
196 | Q>R | No |
ClinGen gnomAD |
|
|
rs1407700250 CA380319781 |
201 | A>T | No |
ClinGen gnomAD |
|
|
rs1309652081 CA380319774 |
202 | I>V | No |
ClinGen TOPMed |
|
|
rs1315478498 CA380319750 |
205 | P>L | No |
ClinGen TOPMed |
|
|
CA221700424 rs1002201129 |
206 | M>V | No |
ClinGen Ensembl |
|
|
rs1315030125 CA380319705 |
211 | K>R | No |
ClinGen gnomAD |
|
|
CA5976278 rs114480768 |
212 | F>L | No |
ClinGen 1000Genomes ExAC |
|
|
CA380319682 rs1388910428 |
214 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5976275 CA5976274 rs34037785 |
218 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5976272 rs758498353 |
219 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA380319650 rs1311648735 |
219 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs750585848 CA5976271 |
220 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA380319626 rs1464671161 |
223 | V>L | No |
ClinGen gnomAD |
|
|
CA380319594 rs1158344396 |
228 | P>T | No |
ClinGen TOPMed |
|
|
rs373075759 CA5976266 |
231 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1443264271 CA380319532 |
238 | R>Q | No |
ClinGen TOPMed |
|
|
rs139347167 CA5976261 |
242 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA221700285 rs11548873 |
242 | A>V | No |
ClinGen Ensembl |
|
|
CA380319435 rs1368885119 |
246 | A>D | No |
ClinGen TOPMed |
|
| TCGA novel | 250 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1347753543 CA380319369 COSM927438 |
252 | A>V | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA380319302 rs1565675967 |
258 | Q>H | No |
ClinGen Ensembl |
|
|
CA380319169 rs1167854747 |
267 | L>I | No |
ClinGen gnomAD |
|
|
CA380319153 rs1172551557 |
269 | R>Q | No |
ClinGen gnomAD |
|
|
rs762357303 CA5976244 |
269 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA5976243 rs772721062 |
271 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761490320 CA5976241 |
273 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA380319029 rs1205104020 CA380319031 |
277 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs146890432 CA221700093 |
282 | I>M | No |
ClinGen ESP |
|
|
rs747411615 CA5976238 |
283 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs142651885 CA5976237 |
285 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380318868 rs1225163352 |
288 | L>F | No |
ClinGen gnomAD |
|
|
rs746372081 CA5976235 |
291 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1315904259 CA380318007 |
303 | D>N | No |
ClinGen gnomAD |
|
|
CA380317986 rs1317871384 |
304 | R>L | No |
ClinGen gnomAD |
|
|
CA380317990 rs1363348500 |
304 | R>W | No |
ClinGen gnomAD |
|
|
rs1387626473 CA380317982 |
305 | E>K | No |
ClinGen gnomAD |
|
|
CA380317969 rs1424593578 |
306 | V>M | No |
ClinGen gnomAD |
|
|
rs1184966347 CA380317926 |
310 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 311 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1447112446 CA380317909 |
313 | L>F | No |
ClinGen gnomAD |
|
|
CA380317889 rs1193479431 |
316 | Q>R | No |
ClinGen gnomAD |
|
|
CA380317855 rs1271770605 |
321 | Q>* | No |
ClinGen TOPMed |
|
|
rs1293825290 CA380317852 |
321 | Q>L | No |
ClinGen gnomAD |
|
|
CA221696156 rs368385342 |
326 | V>F | No |
ClinGen ESP gnomAD |
|
|
CA380317820 rs368385342 |
326 | V>L | No |
ClinGen ESP gnomAD |
|
|
CA380317792 rs1595891386 |
328 | V>G | No |
ClinGen Ensembl |
|
|
CA221695960 rs112401194 |
329 | I>M | No |
ClinGen Ensembl |
|
|
rs112305956 CA221695955 |
330 | A>P | No |
ClinGen Ensembl |
|
|
rs1595891374 CA380317748 |
335 | V>G | No |
ClinGen Ensembl |
|
|
CA380317705 rs1431179366 |
342 | L>F | No |
ClinGen gnomAD |
|
|
rs113742075 CA221695929 |
343 | L>H | No |
ClinGen Ensembl |
|
|
rs113742075 CA221695933 |
343 | L>P | No |
ClinGen Ensembl |
|
|
CA380317686 rs1242700261 |
345 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1469627112 CA380317657 |
350 | R>C | No |
ClinGen gnomAD |
|
|
CA221695927 rs930073621 |
350 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1259002573 CA380317645 |
352 | I>V | No |
ClinGen TOPMed |
|
|
rs778892792 CA5976189 |
355 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753776335 CA5976187 |
356 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs372425706 CA5976186 |
358 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5976185 rs755642234 |
359 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1210812650 CA380317575 |
362 | R>Q | No |
ClinGen TOPMed |
|
|
CA5976183 rs149054498 |
362 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5976182 rs759932695 |
365 | I>V | No |
ClinGen ExAC |
|
|
rs144968726 CA5976180 |
366 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144968726 CA5976181 |
366 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763516120 CA5976179 |
370 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs773880647 CA380317517 |
371 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1565675030 CA380317491 |
374 | N>S | No |
ClinGen Ensembl |
|
|
rs998816001 CA221694299 |
378 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA221694297 rs143985735 |
379 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs780529228 CA5976147 |
382 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 383 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 384 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364926218 CA380317191 |
385 | A>T | No |
ClinGen gnomAD |
|
|
CA5976146 rs754539699 |
386 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5976144 rs779894566 |
386 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5976145 rs779894566 |
386 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5976143 rs758833100 |
388 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1001225780 CA221694279 |
389 | D>A | No |
ClinGen TOPMed |
|
|
rs1001225780 CA380317129 |
389 | D>G | No |
ClinGen TOPMed |
|
|
CA5976142 rs750879646 |
389 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs765706831 CA5976141 |
390 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA5976140 rs757634277 |
392 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757634277 CA221694264 |
392 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 394 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 399 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5976138 rs764028067 |
400 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs895209304 CA221694198 |
403 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
COSM1354080 CA380316823 rs1471140987 |
407 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1027643207 CA221693954 |
409 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs199874053 CA221693951 |
409 | R>H | No |
ClinGen gnomAD |
|
|
rs776430838 CA5976110 |
410 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273800761 CA380316753 |
412 | A>T | No |
ClinGen TOPMed |
|
|
CA380316736 rs1252054308 |
413 | T>M | No |
ClinGen gnomAD |
|
|
rs1304723915 CA380316697 |
415 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA380316578 rs1210231658 |
421 | M>I | No |
ClinGen TOPMed |
|
| TCGA novel | 425 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5976106 rs771734810 |
432 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1291484322 CA380316394 |
434 | N>S | No |
ClinGen gnomAD |
|
|
rs745466725 CA5976104 |
436 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA380316334 rs1442875283 |
439 | A>T | No |
ClinGen Ensembl |
|
|
rs372963006 CA5976102 |
440 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
1 associated diseases with P17980
[MIM: 619354]: Deafness, cataract, impaired intellectual development, and polyneuropathy (DCIDP)
An autosomal recessive disease characterized by early onset of deafness, cataract, severe developmental delay, and severely impaired intellectual development. Patients later develop polyneuropathy of the lower extremities, associated with depigmentation of the hair in that area. {ECO:0000269|PubMed:32500975}. Note=The disease may be caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disease characterized by early onset of deafness, cataract, severe developmental delay, and severely impaired intellectual development. Patients later develop polyneuropathy of the lower extremities, associated with depigmentation of the hair in that area. {ECO:0000269|PubMed:32500975}. Note=The disease may be caused by variants affecting the gene represented in this entry.
5 regional properties for P17980
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Aminoacyl-tRNA synthetase, class II (D/K/N) | 236 - 585 | IPR004364 |
| domain | OB-fold nucleic acid binding domain, AA-tRNA synthetase-type | 108 - 183 | IPR004365 |
| domain | Aminoacyl-tRNA synthetase, class II | 258 - 583 | IPR006195 |
| domain | Lysyl-tRNA synthetase, class II, C-terminal | 251 - 586 | IPR018149 |
| domain | Lysine-tRNA ligase, class II, N-terminal | 106 - 248 | IPR044136 |
11 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. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| ficolin-1-rich granule lumen | Any membrane-enclosed lumen that is part of a ficolin-1-rich granule. |
| 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. |
| 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. |
| 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. |
| secretory granule lumen | The volume enclosed by the membrane of a secretory granule. |
4 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. |
| identical protein binding | Binding to an identical protein or proteins. |
| proteasome-activating activity | Catalysis of the reaction: ATP + H2O = ADP + phosphate, which promotes unfolding of protein substrates, and channel opening of the core proteasome. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| modulation by host of viral transcription | Any process in which a host organism modulates the frequency, rate or extent of viral transcription. |
| positive regulation of proteasomal protein catabolic process | Any process that activates or increases the frequency, rate or extent of proteasomal protein catabolic process. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| 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. |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P62333 | PSMC6 | 26S proteasome regulatory subunit 10B | Homo sapiens (Human) | PR |
| P43686 | PSMC4 | 26S proteasome regulatory subunit 6B | 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 |
| O88685 | Psmc3 | 26S proteasome regulatory subunit 6A | Mus musculus (Mouse) | PR |
| Q63569 | Psmc3 | 26S proteasome regulatory subunit 6A | Rattus norvegicus (Rat) | PR |
| P46465 | TBP1 | 26S proteasome regulatory subunit 6A homolog | Oryza sativa subsp japonica (Rice) | PR |
| Q9SEI2 | RPT5A | 26S proteasome regulatory subunit 6A homolog A | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P54776 | TBP1 | 26S proteasome regulatory subunit 6A homolog | Solanum lycopersicum (Tomato) (Lycopersicon esculentum) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNLLPNIESP | VTRQEKMATV | WDEAEQDGIG | EEVLKMSTEE | IIQRTRLLDS | EIKIMKSEVL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RVTHELQAMK | DKIKENSEKI | KVNKTLPYLV | SNVIELLDVD | PNDQEEDGAN | IDLDSQRKGK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CAVIKTSTRQ | TYFLPVIGLV | DAEKLKPGDL | VGVNKDSYLI | LETLPTEYDS | RVKAMEVDER |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PTEQYSDIGG | LDKQIQELVE | AIVLPMNHKE | KFENLGIQPP | KGVLMYGPPG | TGKTLLARAC |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AAQTKATFLK | LAGPQLVQMF | IGDGAKLVRD | AFALAKEKAP | SIIFIDELDA | IGTKRFDSEK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AGDREVQRTM | LELLNQLDGF | QPNTQVKVIA | ATNRVDILDP | ALLRSGRLDR | KIEFPMPNEE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ARARIMQIHS | RKMNVSPDVN | YEELARCTDD | FNGAQCKAVC | VEAGMIALRR | GATELTHEDY |
| 430 | |||||
| MEGILEVQAK | KKANLQYYA |