Q9UBW8
Gene name |
COPS7A (CSN7A, DERP10) |
Protein name |
COP9 signalosome complex subunit 7a |
Names |
SGN7a, Signalosome subunit 7a, Dermal papilla-derived protein 10, JAB1-containing signalosome subunit 7a |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:50813 |
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
4 structures for Q9UBW8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4D10 | X-ray | 380 A | G/O | 1-218 | PDB |
| 4D18 | X-ray | 408 A | G/O | 1-218 | PDB |
| 4WSN | X-ray | 550 A | G/O/W/e/m/u | 1-218 | PDB |
| AF-Q9UBW8-F1 | Predicted | AlphaFoldDB |
173 variants for Q9UBW8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA383667402 rs1443442005 |
2 | S>N | No |
ClinGen TOPMed |
|
|
CA6414426 rs550314669 |
4 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6414428 rs769414634 |
7 | V>M | No |
ClinGen ExAC |
|
|
CA383667465 rs1442791272 |
11 | N>K | No |
ClinGen gnomAD |
|
|
rs1422971398 CA383667476 |
13 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 15 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6414431 rs765860750 |
16 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA383667517 rs1438828117 |
19 | A>G | No |
ClinGen TOPMed |
|
|
rs753187213 CA6414432 |
23 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383667544 rs1419984174 |
23 | K>R | No |
ClinGen gnomAD |
|
|
CA383667548 rs1319366838 |
24 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 25 | A>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761088141 CA6414433 |
28 | A>T | No |
ClinGen ExAC |
|
|
rs754279549 CA6414435 |
31 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA6414436 rs754279549 |
31 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6414437 rs779249197 |
32 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1170430701 CA383667607 |
34 | V>M | No |
ClinGen gnomAD |
|
|
rs1337649776 CA383667618 |
36 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA383667626 rs1227080446 |
37 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs904143307 CA232394106 |
39 | G>D | No |
ClinGen Ensembl |
|
|
rs904143307 CA383667641 |
39 | G>V | No |
ClinGen Ensembl |
|
|
CA232394116 rs145508491 |
40 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 45 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383667676 rs1466751100 |
45 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 46 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1205701276 CA383667692 |
47 | L>P | No |
ClinGen TOPMed |
|
|
rs1482824393 CA383667698 |
48 | D>G | No |
ClinGen gnomAD |
|
|
CA6414441 rs148833801 |
49 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383667715 rs1348264306 |
50 | P>L | No |
ClinGen TOPMed |
|
|
rs1471605273 CA383667720 |
51 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 53 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768498031 CA6414442 |
53 | R>S | No |
ClinGen ExAC |
|
|
CA383667737 rs1396271960 |
54 | E>K | No |
ClinGen gnomAD |
|
|
rs1396271960 CA383667738 |
54 | E>Q | No |
ClinGen gnomAD |
|
|
CA6414487 rs748627485 |
61 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA6414486 rs775145801 |
61 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1173182050 CA383667805 |
62 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1173182050 CA383667804 |
62 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA383667822 rs1436308113 |
64 | F>L | No |
ClinGen gnomAD |
|
|
CA383667824 rs1395746588 |
65 | R>Q | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA232396230 rs1032124527 |
65 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA232396232 rs988348156 |
68 | T>A | No |
ClinGen TOPMed |
|
|
CA6414489 rs773894715 |
68 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA232396239 rs984561566 |
69 | V>G | No |
ClinGen gnomAD |
|
|
rs1232093629 CA383667866 |
72 | Y>F | No |
ClinGen gnomAD |
|
|
CA6414491 rs771384634 |
76 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1426899488 CA383667891 |
76 | A>T | No |
ClinGen gnomAD |
|
|
CA232396245 rs907732925 |
80 | A>T | No |
ClinGen Ensembl |
|
|
CA6414511 rs141811786 |
80 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA232396313 rs1023271179 |
83 | R>G | No |
ClinGen Ensembl |
|
|
CA232396320 rs147088395 |
83 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA232396318 rs1023271179 |
83 | R>W | No |
ClinGen Ensembl |
|
|
CA383667962 rs1186837069 |
84 | N>S | No |
ClinGen gnomAD |
|
|
rs1470045521 CA383667960 |
84 | N>Y | No |
ClinGen gnomAD |
|
|
CA6414513 rs759703229 |
87 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1172487794 CA383667993 |
88 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA383668004 rs1366688614 |
89 | T>I | No |
ClinGen gnomAD |
|
|
rs1316426804 CA383668005 |
90 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs775733098 CA6414515 |
93 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1396031595 CA383668057 |
97 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs764220895 CA6414517 |
97 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764220895 CA6414518 COSM942831 |
97 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6414519 rs761815242 |
98 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs764902554 CA6414520 |
99 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1213800724 CA383668077 |
101 | V>I | No |
ClinGen gnomAD |
|
|
rs1014678820 CA232396350 |
102 | V>A | No |
ClinGen Ensembl |
|
|
rs1383164724 CA383668083 |
102 | V>I | No |
ClinGen gnomAD |
|
|
rs758306221 CA6414522 |
108 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA383668147 rs1225700951 |
110 | C>Y | No |
ClinGen gnomAD |
|
|
rs1347384881 CA383668162 |
112 | P>S | No |
ClinGen gnomAD |
|
|
rs1282178428 CA383668169 |
113 | Y>C | No |
ClinGen gnomAD |
|
|
CA6414556 rs773225678 |
115 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232396881 rs773225678 |
115 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6414558 rs766236035 |
118 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 119 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759297834 CA6414560 |
120 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6414559 rs375333384 |
120 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376041428 CA6414564 |
123 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM942832 rs141939720 CA6414565 |
123 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA383668246 rs1328709798 |
126 | R>L | No |
ClinGen gnomAD |
|
|
CA232396908 rs994542399 |
131 | L>F | No |
ClinGen TOPMed |
|
|
CA383668301 rs1323942671 |
134 | E>D | No |
ClinGen gnomAD |
|
|
rs1444503147 CA383668294 |
134 | E>K | No |
ClinGen gnomAD |
|
|
rs780351989 CA6414567 |
136 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1441908358 CA383668317 |
137 | Y>C | No |
ClinGen gnomAD |
|
|
rs755340818 CA6414569 |
140 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6414570 rs201931813 |
142 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6414571 rs367999302 |
142 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769841560 CA6414572 |
144 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1251821808 CA383668364 |
145 | L>P | No |
ClinGen gnomAD |
|
|
CA383668365 rs1251821808 |
145 | L>R | No |
ClinGen gnomAD |
|
|
CA6414573 rs778026596 |
148 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6414574 rs749187916 |
148 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA6414576 rs542557133 |
151 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1202082 rs770968363 CA6414575 |
151 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6414577 rs759373158 |
152 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA383668413 rs1592471730 |
153 | E>A | No |
ClinGen Ensembl |
|
|
CA383668411 rs1592471724 |
153 | E>Q | No |
ClinGen Ensembl |
|
|
rs1592471747 CA383668423 |
154 | V>G | No |
ClinGen Ensembl |
|
|
CA383668457 rs1162958350 |
159 | G>R | No |
ClinGen gnomAD |
|
|
rs1441931837 CA383668464 |
160 | R>L | No |
ClinGen gnomAD |
|
|
CA383668465 rs1441931837 |
160 | R>Q | No |
ClinGen gnomAD |
|
|
CA383668472 rs1328113147 |
161 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 162 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs989349484 CA232396972 |
163 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
COSM179567 CA6414582 rs770890062 |
164 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs146292223 COSM942834 CA6414583 |
164 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs146292223 CA6414584 |
164 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6414585 rs766842646 |
165 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs144729591 CA6414586 |
169 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383668526 rs1215205178 |
170 | I>V | No |
ClinGen gnomAD |
|
|
CA383668533 rs1281654126 |
171 | A>S | No |
ClinGen gnomAD |
|
|
rs781411141 CA6414588 |
172 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs752921004 CA6414589 |
172 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565468878 CA383668913 |
178 | C>R | No |
ClinGen Ensembl |
|
|
CA383668970 rs1376011231 |
183 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs758294402 CA6414614 |
184 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6414613 rs144125600 |
184 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6414615 rs780092140 |
185 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA6414618 rs371945691 |
186 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1565468926 CA383669032 |
188 | I>T | No |
ClinGen Ensembl |
|
|
CA232397723 rs368792700 |
193 | S>T | No |
ClinGen Ensembl |
|
|
CA383669111 rs1486287009 |
194 | R>C | No |
ClinGen gnomAD |
|
|
CA6414621 rs146030026 |
194 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6414623 rs767878807 |
196 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383669144 rs1246773176 |
197 | Q>K | No |
ClinGen TOPMed |
|
|
CA383669159 rs1340823601 |
198 | H>Y | No |
ClinGen TOPMed |
|
|
rs764568975 CA6414626 |
200 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs971349850 CA232397748 |
204 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1467577283 CA383669298 |
208 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 209 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383669339 rs1592473327 |
211 | S>R | No |
ClinGen Ensembl |
|
|
CA383669397 rs1249309027 |
214 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 219 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 219 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383669481 rs1326368978 |
221 | K>E | No |
ClinGen gnomAD |
|
|
CA383669515 rs1332744385 COSM1363859 |
223 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA232397817 rs1054593291 |
223 | T>S | No |
ClinGen gnomAD |
|
|
rs758397165 CA6414651 |
224 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1184575046 CA383669538 |
225 | A>V | No |
ClinGen gnomAD |
|
|
rs148675442 CA6414653 |
229 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA232397826 rs148675442 |
229 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6414654 rs148675442 |
229 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6414655 rs549562987 |
231 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1474575342 CA383669622 |
233 | Q>* | No |
ClinGen gnomAD |
|
|
rs1472033303 CA383669625 |
233 | Q>P | No |
ClinGen TOPMed |
|
|
CA383669703 rs1592473690 |
238 | H>P | No |
ClinGen Ensembl |
|
|
rs752457696 CA383669711 |
238 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1001415163 CA383669748 |
242 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA232397854 rs1001415163 |
242 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1384687161 CA383669754 |
243 | R>K | No |
ClinGen gnomAD |
|
|
CA383669785 rs1592473765 |
245 | P>L | No |
ClinGen Ensembl |
|
|
rs748981640 CA6414659 |
246 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1565469245 CA383669805 |
247 | P>L | No |
ClinGen Ensembl |
|
|
CA232397870 rs866770862 |
247 | P>S | No |
ClinGen Ensembl |
|
|
CA6414660 rs770280665 |
248 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs373193931 CA6414661 |
249 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383669821 rs1348729430 |
249 | T>S | No |
ClinGen TOPMed |
|
|
rs1034263531 CA232397881 |
250 | N>H | No |
ClinGen Ensembl |
|
|
rs1313456811 CA383669835 |
250 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 251 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6414662 rs747470345 |
252 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213903912 CA383669871 |
253 | Q>* | No |
ClinGen gnomAD |
|
|
rs777322286 CA6414664 |
254 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6414663 rs769264964 |
254 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA232397900 rs973901065 |
256 | K>R | No |
ClinGen gnomAD |
|
|
rs1485274845 CA383669918 |
258 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs774622741 CA6414695 |
264 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232398022 rs151177416 |
265 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
rs370260459 COSM942835 CA6414699 |
268 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1322441569 CA383670160 |
269 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA383670220 rs1325522072 |
274 | S>T | No |
ClinGen TOPMed |
|
|
CA6414703 rs757043808 |
276 | N>W | No |
ClinGen ExAC |
No associated diseases with Q9UBW8
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| COP9 signalosome | A protein complex that catalyzes the deneddylation of proteins, including the cullin component of SCF ubiquitin E3 ligase; deneddylation increases the activity of cullin family ubiquitin ligases. The signalosome is involved in many regulatory process, including some which control development, in many species; also regulates photomorphogenesis in plants; in many species its subunits are highly similar to those of the proteasome. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
| 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 |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| COP9 signalosome assembly | The aggregation, arrangement and bonding together of a set of components to form a COP9 signalosome. |
| protein deneddylation | The removal of a ubiquitin-like protein of the NEDD8 type from a protein. |
| protein neddylation | Covalent attachment of the ubiquitin-like protein NEDD8 (RUB1) to another protein. |
| regulation of protein neddylation | Any process that modulates the frequency, rate or extent of protein neddylation. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSAEVKVTGQ | NQEQFLLLAK | SAKGAALATL | IHQVLEAPGV | YVFGELLDMP | NVRELAESDF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ASTFRLLTVF | AYGTYADYLA | EARNLPPLTE | AQKNKLRHLS | VVTLAAKVKC | IPYAVLLEAL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ALRNVRQLED | LVIEAVYADV | LRGSLDQRNQ | RLEVDYSIGR | DIQRQDLSAI | ARTLQEWCVG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CEVVLSGIEE | QVSRANQHKE | QQLGLKQQIE | SEVANLKKTI | KVTTAAAAAA | TSQDPEQHLT |
| 250 | 260 | 270 | |||
| ELREPAPGTN | QRQPSKKASK | GKGLRGSAKI | WSKSN |