Q9GZU8
Gene name |
PSME3IP1 |
Protein name |
PSME3-interacting protein |
Names |
NEFA-interacting nuclear protein NIP30, PA28G-interacting protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:80011 |
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
3 structures for Q9GZU8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7W59 | EM | 360 A | X | 1-254 | PDB |
| 7W5A | EM | 360 A | X | 1-254 | PDB |
| AF-Q9GZU8-F1 | Predicted | AlphaFoldDB |
174 variants for Q9GZU8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA8074344 rs764383917 |
2 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8074341 rs770389028 |
5 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA8074340 rs760094794 |
6 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396023128 rs1164956183 |
6 | D>Y | No |
ClinGen gnomAD |
|
|
rs925698743 CA281541253 |
9 | L>R | No |
ClinGen Ensembl |
|
|
CA396023096 rs1438230732 |
11 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs776887226 CA8074338 |
14 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1597720822 CA396023068 |
15 | F>V | No |
ClinGen Ensembl |
|
|
CA396023054 rs1259343193 |
17 | S>P | No |
ClinGen gnomAD |
|
|
rs750543347 CA8074337 |
20 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192705820 CA396023016 |
22 | D>E | No |
ClinGen gnomAD |
|
|
CA8074335 rs777993320 |
24 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8074336 rs535488737 COSM971808 |
24 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs771766544 CA396023002 |
25 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs748040990 CA8074333 |
25 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA8074334 rs771766544 |
25 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs778552812 CA8074332 |
27 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs754949848 CA8074331 |
28 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1469640551 CA396022978 |
29 | Q>* | No |
ClinGen gnomAD |
|
|
CA396022971 rs1220332816 |
30 | E>K | No |
ClinGen gnomAD |
|
|
rs753735386 CA8074330 |
31 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA396022946 rs1203694272 |
33 | E>Q | No |
ClinGen gnomAD |
|
|
CA396022924 COSM1177217 rs779562242 |
36 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1274438311 CA396022923 |
36 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1238821799 CA396022891 |
40 | D>E | No |
ClinGen TOPMed |
|
|
CA8074328 rs755566928 |
41 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs886943674 CA281540566 |
43 | E>A | No |
ClinGen Ensembl |
|
|
rs1314894479 CA396022815 |
44 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8074304 rs755335453 |
44 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA396022772 rs1363471289 |
47 | E>K | No |
ClinGen gnomAD |
|
|
rs1567419836 CA396022735 |
49 | Y>C | No |
ClinGen Ensembl |
|
|
rs546658164 CA8074303 |
51 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396022663 rs1409960923 |
53 | S>C | No |
ClinGen gnomAD |
|
|
CA281540557 rs931233633 |
54 | L>Q | No |
ClinGen Ensembl |
|
|
rs1567419632 CA396022638 |
55 | Y>C | No |
ClinGen Ensembl |
|
|
CA396022622 rs1475901642 |
56 | E>G | No |
ClinGen TOPMed |
|
|
CA396022604 rs1485325739 |
57 | R>S | No |
ClinGen gnomAD |
|
|
CA396022579 rs1188173350 |
59 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 60 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA281540555 rs1039747090 |
62 | K>E | No |
ClinGen Ensembl |
|
|
CA281540546 rs528576294 |
62 | K>N | No |
ClinGen 1000Genomes |
|
|
rs942639690 CA281540550 |
62 | K>R | No |
ClinGen Ensembl |
|
|
rs1169665076 CA396022491 |
64 | R>G | No |
ClinGen gnomAD |
|
|
CA8074298 rs762119081 |
66 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs11555755 CA281540526 |
66 | Q>R | No |
ClinGen Ensembl |
|
|
rs774379565 CA8074295 |
69 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA396022354 rs1356681236 |
70 | E>D | No |
ClinGen gnomAD |
|
|
rs749152481 CA8074293 |
70 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396022330 rs1297815220 |
72 | Q>E | No |
ClinGen TOPMed |
|
|
rs775256303 CA8074292 |
72 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA8074291 rs369877166 |
73 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1289649512 CA396022282 |
74 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA396022286 rs1289649512 |
74 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs986876953 CA281540463 |
76 | K>E | No |
ClinGen Ensembl |
|
|
CA8074263 rs771898297 |
78 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs371988638 CA8074264 |
78 | M>V | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 79 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1442007848 CA396022107 |
85 | D>N | No |
ClinGen gnomAD |
|
|
CA396022102 rs1371422399 |
85 | D>V | No |
ClinGen gnomAD |
|
|
CA8074261 rs780589903 |
87 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8074262 rs747764245 |
87 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 91 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375518314 CA8074260 |
95 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8074259 rs781655808 |
95 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8074258 rs781655808 |
95 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285910919 CA396022028 |
96 | Q>P | No |
ClinGen TOPMed |
|
|
rs1379759643 CA396022019 |
97 | Q>R | No |
ClinGen TOPMed |
|
|
rs757773647 CA8074257 |
98 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs764131026 CA8074255 |
100 | I>T | No |
ClinGen ExAC TOPMed |
|
|
CA396022002 rs1465818955 |
100 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA281540193 rs180702754 |
102 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1170615485 CA396021978 |
103 | Q>* | No |
ClinGen gnomAD |
|
|
CA396021970 rs1454473075 |
104 | R>* | No |
ClinGen gnomAD |
|
|
CA8074253 rs752864583 COSM275061 |
104 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs765089690 CA8074252 |
106 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA8074251 rs759183067 |
109 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396021892 rs770830499 |
112 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs569865674 CA8074248 |
115 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1484731642 CA396021843 |
116 | R>K | No |
ClinGen gnomAD |
|
|
CA281537786 rs890162641 |
117 | N>S | No |
ClinGen Ensembl |
|
|
CA396020709 CA396020712 rs1386110621 |
118 | N>K | No |
ClinGen gnomAD |
|
|
rs1346298809 CA396020686 |
120 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA396020653 rs1161602168 |
122 | V>F | No |
ClinGen TOPMed |
|
|
CA8074223 rs767141143 |
124 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 125 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1453171401 CA396020585 |
126 | Q>R | No |
ClinGen TOPMed |
|
|
COSM971805 rs761482807 CA8074222 |
129 | K>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1287131015 CA396020453 |
132 | V>A | No |
ClinGen TOPMed |
|
|
CA396020449 rs1597658936 |
133 | E>K | No |
ClinGen Ensembl |
|
|
rs1473808420 CA396020360 |
137 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 138 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143746498 CA8074221 CA396020328 |
141 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768246575 CA8074220 |
141 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143746498 CA281537776 |
141 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748942436 CA8074219 |
144 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA8074218 rs776894654 |
145 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1353921028 CA396020240 |
145 | N>K | No |
ClinGen TOPMed |
|
|
CA396020229 rs746174590 |
146 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA281537766 rs746174590 |
146 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8074215 rs370469445 |
150 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370469445 CA8074216 |
150 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8074214 rs201042159 |
150 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1429538464 CA396020108 |
154 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA396020061 rs1483572383 |
159 | H>P | No |
ClinGen TOPMed |
|
|
rs1373925463 CA396020062 |
159 | H>Y | No |
ClinGen gnomAD |
|
|
CA396020044 rs1597658001 |
161 | S>N | No |
ClinGen Ensembl |
|
|
CA281536211 rs1038410383 |
163 | E>G | No |
ClinGen Ensembl |
|
|
CA8074190 rs756393274 |
166 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs750295435 CA8074189 |
167 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA281536195 rs200359429 |
168 | V>A | No |
ClinGen 1000Genomes |
|
|
rs781107141 CA8074188 |
168 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757294337 CA8074187 |
169 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8074185 rs564050683 |
173 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8074183 rs372644692 |
178 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1174575894 CA396019588 |
179 | D>N | No |
ClinGen TOPMed |
|
|
rs1466217467 CA396019564 |
182 | Q>K | No |
ClinGen TOPMed |
|
|
rs1352899164 CA396019218 |
184 | P>T | No |
ClinGen gnomAD |
|
|
rs377190829 CA8074169 |
185 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8074168 rs777831024 |
188 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA8074167 rs758251659 |
190 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA396019102 rs1597537374 |
192 | N>T | No |
ClinGen Ensembl |
|
|
CA396019089 rs1597537320 |
193 | T>P | No |
ClinGen Ensembl |
|
|
rs1597537200 CA396019053 |
195 | L>R | No |
ClinGen Ensembl |
|
|
CA8074163 rs374828952 |
196 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200333306 CA8074162 CA396019022 |
196 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396019002 rs762305303 |
197 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA8074161 rs762305303 |
197 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1467325545 COSM435420 CA396018985 |
198 | P>L | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs774568604 CA8074160 |
198 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA396018981 rs1597536679 |
199 | S>P | No |
ClinGen Ensembl |
|
|
rs763341398 CA8074158 |
200 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA8074159 rs769256035 |
200 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396018932 rs1354008835 |
202 | C>R | No |
ClinGen TOPMed |
|
|
rs1282138583 CA396018855 |
206 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA396018821 rs1260464725 |
208 | C>Y | No |
ClinGen gnomAD |
|
|
CA396018813 rs1209759183 |
209 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA281531726 rs867281910 |
210 | G>D | No |
ClinGen Ensembl |
|
|
CA8074154 rs776923728 |
210 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA8074153 rs771049188 |
211 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA396018766 rs1380692286 |
215 | L>V | No |
ClinGen gnomAD |
|
|
CA396018761 rs1361562031 |
216 | G>S | No |
ClinGen gnomAD |
|
|
CA8074150 rs758399641 |
217 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435559772 CA396018744 |
218 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA8074149 rs570931234 |
219 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA396018738 rs1390632236 |
219 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs754426999 CA8074147 |
220 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1284667717 CA396018683 |
223 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1247050011 CA396018656 |
225 | E>K | No |
ClinGen gnomAD |
|
|
CA396018626 rs1223060883 |
227 | S>G | No |
ClinGen TOPMed |
|
|
rs1597534811 CA396018605 |
228 | S>L | No |
ClinGen Ensembl |
|
| TCGA novel | 229 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8074144 rs755700823 |
229 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1213586579 CA396018565 |
231 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA281531683 rs370700301 |
232 | G>A | No |
ClinGen ESP TOPMed |
|
|
CA8074142 rs764328745 |
234 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476550709 CA396018505 |
235 | N>S | No |
ClinGen TOPMed |
|
|
rs763543191 CA8074141 |
236 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8074138 rs759752010 |
238 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776836330 CA8074137 |
240 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8074135 rs747167334 |
243 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1294718522 CA396018357 |
246 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1460017504 CA396018355 |
246 | R>P | No |
ClinGen gnomAD |
|
|
rs1165506913 CA396018352 |
247 | T>A | No |
ClinGen TOPMed |
|
|
rs554043068 CA281531630 |
247 | T>N | No |
ClinGen Ensembl |
|
|
rs771715346 CA8074133 |
248 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs751404485 CA8074132 |
248 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393603140 CA396018340 |
249 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA8074131 rs778889751 |
249 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA396018324 rs1301750285 |
251 | L>H | No |
ClinGen TOPMed |
|
|
CA8074128 rs779401733 |
252 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA396018312 rs1275491750 |
253 | A>G | No |
ClinGen gnomAD |
|
|
CA396018314 rs1480345420 |
253 | A>S | No |
ClinGen gnomAD |
|
|
rs1275491750 CA396018313 |
253 | A>V | No |
ClinGen gnomAD |
|
|
rs755824856 CA8074127 |
254 | P>A | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9GZU8
1 regional properties for Q9GZU8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | FAM192A/Fyv6, N-terminal | 15 - 116 | IPR019331 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of proteasomal protein catabolic process | Any process that stops, prevents or reduces the frequency, rate or extent of proteasomal protein catabolic process. |
| negative regulation of protein binding | Any process that stops, prevents, or reduces the frequency, rate or extent of protein binding. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDGGDDGNLI | IKKRFVSEAE | LDERRKRRQE | EWEKVRKPED | PEECPEEVYD | PRSLYERLQE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QKDRKQQEYE | EQFKFKNMVR | GLDEDETNFL | DEVSRQQELI | EKQRREEELK | ELKEYRNNLK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KVGISQENKK | EVEKKLTVKP | IETKNKFSQA | KLLAGAVKHK | SSESGNSVKR | LKPDPEPDDK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NQEPSSCKSL | GNTSLSGPSI | HCPSAAVCIG | ILPGLGAYSG | SSDSESSSDS | EGTINATGKI |
| 250 | |||||
| VSSIFRTNTF | LEAP |