Q96HE7
PR
Gene name |
ERO1A |
Protein name |
ERO1-like protein alpha |
Names |
ERO1-L, ERO1-L-alpha, Endoplasmic oxidoreductin-1-like protein, Endoplasmic reticulum oxidoreductase alpha, Oxidoreductin-1-L-alpha |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:30001 |
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 Q96HE7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3AHQ | X-ray | 235 A | A | 22-468 | PDB |
| 3AHR | X-ray | 307 A | A | 22-468 | PDB |
| AF-Q96HE7-F1 | Predicted | AlphaFoldDB |
293 variants for Q96HE7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA7189534 rs755511228 |
2 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466681501 CA389724199 |
2 | G>S | No |
ClinGen gnomAD |
|
|
CA260924289 rs867787832 |
3 | R>L | No |
ClinGen Ensembl |
|
|
rs963942327 CA260924271 |
4 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1246279319 CA389724185 |
4 | G>V | No |
ClinGen gnomAD |
|
|
rs1340557716 CA389724178 |
5 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA260924266 rs911062532 |
6 | G>V | No |
ClinGen TOPMed |
|
|
CA260924261 rs983948788 |
8 | L>F | No |
ClinGen TOPMed |
|
|
CA7189533 rs150968050 |
9 | F>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs529206929 CA389724142 |
11 | L>F | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs529206929 CA260924253 |
11 | L>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs754651694 CA7189531 |
15 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1304667585 CA389724119 |
15 | V>L | No |
ClinGen TOPMed |
|
|
CA260924236 rs1000678895 |
17 | L>V | No |
ClinGen Ensembl |
|
|
rs1349785528 CA389724103 |
18 | L>V | No |
ClinGen TOPMed |
|
|
CA7189530 rs751293420 |
19 | S>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA389724087 rs1165222683 |
20 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1458661817 CA389724084 |
21 | G>S | No |
ClinGen gnomAD |
|
|
rs1389614878 CA389724074 |
22 | H>R | No |
ClinGen gnomAD |
|
|
CA7189528 rs140064149 |
23 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA389724059 rs1249228097 |
24 | E>D | No |
ClinGen gnomAD |
|
|
rs763394147 CA7189527 |
25 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA389724044 rs1041744435 |
26 | Q>H | No |
ClinGen gnomAD |
|
|
rs773539363 CA7189526 |
26 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389724033 rs1211261156 |
28 | P>R | No |
ClinGen gnomAD |
|
|
rs917283236 CA260924203 |
30 | T>R | No |
ClinGen Ensembl |
|
|
rs1057057535 CA260924202 |
31 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA389724008 rs1344163701 |
32 | A>V | No |
ClinGen gnomAD |
|
|
rs1594840117 CA389724005 |
33 | Q>* | No |
ClinGen Ensembl |
|
|
CA389724001 rs373905135 CA7189525 |
33 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389723996 rs1435402354 |
34 | R>K | No |
ClinGen gnomAD |
|
|
rs762297920 CA7189524 |
34 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA389723985 rs1387540506 |
36 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA389723979 rs1480378649 |
36 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs564430234 CA260924163 |
38 | Q>* | No |
ClinGen 1000Genomes |
|
|
CA389723949 rs1328230939 |
39 | V>F | No |
ClinGen gnomAD |
|
|
CA7189506 rs372643167 |
40 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7189505 rs760766253 |
41 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA7189504 rs760766253 |
41 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA7189502 rs776315516 |
42 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA7189503 rs775622871 |
42 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs772276819 CA7189501 |
45 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1457236248 CA389723852 |
53 | I>T | No |
ClinGen gnomAD |
|
|
rs773034970 CA7189499 COSM433129 |
53 | I>V | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA260916196 CA389723836 rs769514008 |
55 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1374627125 CA389723832 |
56 | F>Y | No |
ClinGen TOPMed |
|
|
CA7189497 rs748075875 |
63 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389723747 rs1180724925 |
68 | L>F | No |
ClinGen gnomAD |
|
|
rs746526179 CA7189494 |
70 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 70 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1204216262 CA389723726 |
71 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 72 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866647565 CA260916165 |
73 | Y>C | No |
ClinGen Ensembl |
|
|
CA389723702 rs1210404359 |
74 | F>C | No |
ClinGen gnomAD |
|
|
CA389723696 rs1279976384 |
75 | R>K | No |
ClinGen TOPMed |
|
|
CA7189492 rs377052767 |
77 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7189491 rs750095674 |
78 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1594833953 CA389723649 |
80 | N>T | No |
ClinGen Ensembl |
|
|
rs1300466866 CA389723625 |
83 | R>S | No |
ClinGen gnomAD |
|
|
CA7189475 rs776493148 |
84 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7189473 rs771523345 |
86 | P>S | No |
ClinGen ExAC |
|
|
rs907729602 CA260915118 |
92 | S>G | No |
ClinGen gnomAD |
|
|
rs907729602 CA389723566 |
92 | S>R | No |
ClinGen gnomAD |
|
|
rs757585520 CA7189470 |
94 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA260915085 rs866411007 |
95 | G>V | No |
ClinGen Ensembl |
|
|
CA7189469 rs749648627 |
97 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389723529 rs749648627 |
97 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389723530 rs749648627 |
97 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376279892 CA389723489 |
103 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs376279892 CA260915059 |
103 | P>T | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 105 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7189467 rs756589242 |
105 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA7189450 rs748988266 |
109 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389723436 rs989140446 COSM433128 |
109 | V>I | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs989140446 CA260912130 |
109 | V>L | No |
ClinGen TOPMed |
|
|
rs1212618847 CA389723421 |
111 | D>V | No |
ClinGen gnomAD |
|
|
CA7189449 rs149322348 |
116 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1288179552 CA389723383 |
117 | S>N | No |
ClinGen gnomAD |
|
|
rs138408849 CA260912102 |
117 | S>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA389723376 rs1348281591 |
118 | Y>C | No |
ClinGen gnomAD |
|
|
CA7189448 rs756501212 |
118 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs923671039 CA260912095 |
119 | K>R | No |
ClinGen TOPMed |
|
|
rs1457643997 CA389722606 |
120 | Y>F | No |
ClinGen gnomAD |
|
|
CA260907371 rs922645955 |
122 | E>K | No |
ClinGen TOPMed |
|
|
CA389722571 rs1594829362 |
123 | E>K | No |
ClinGen Ensembl |
|
|
CA389722553 rs1366770068 |
124 | A>T | No |
ClinGen gnomAD |
|
|
rs747605608 CA7189423 |
125 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA260907348 rs899273424 |
127 | L>F | No |
ClinGen TOPMed |
|
|
CA260907330 rs370510321 |
128 | I>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs150503962 CA7189421 |
128 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA260907298 rs1018779201 |
129 | E>D | No |
ClinGen TOPMed |
|
|
rs1205342591 CA389722479 |
129 | E>G | No |
ClinGen gnomAD |
|
|
rs1355266671 CA389722440 |
132 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 135 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779293878 CA389722384 |
136 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA7189418 rs755906144 |
136 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1566642367 | 145 | S>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7189416 rs767393455 |
145 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1160599462 CA389722255 |
148 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7189399 rs780730757 |
151 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7189398 rs745946785 |
152 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7189397 rs745946785 |
152 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7189396 rs779201951 |
153 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA389722224 rs779201951 |
153 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7189395 rs757398454 |
154 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 157 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389722174 rs1397875218 |
160 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7189393 rs780807264 |
162 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA7189392 rs754823503 |
164 | N>K | No |
ClinGen ExAC |
|
|
rs1426694066 CA389722111 |
168 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA389722114 rs1477254790 |
168 | A>S | No |
ClinGen gnomAD |
|
|
CA389722112 rs1426694066 |
168 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA389722102 rs1201132804 |
170 | D>N | No |
ClinGen gnomAD |
|
|
rs1374146825 CA389733494 |
171 | I>V | No |
ClinGen gnomAD |
|
|
rs749421090 CA7189377 |
172 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778069034 CA7189376 |
172 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA260950446 rs778069034 |
172 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1312362576 CA389733478 |
173 | S>F | No |
ClinGen gnomAD |
|
|
rs1434840467 CA389733474 |
174 | P>L | No |
ClinGen gnomAD |
|
|
CA7189374 rs746798760 |
174 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7189373 rs779879528 |
176 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs750403141 CA7189371 |
185 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs373170956 CA7189370 |
187 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM956242 CA7189369 rs756818089 |
187 | R>H | endometrium Variant assessed as Somatic; 4.625e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1244919568 CA389733375 |
189 | T>S | No |
ClinGen gnomAD |
|
|
rs1347971328 CA389733369 |
190 | G>C | No |
ClinGen TOPMed |
|
|
CA7189367 rs369628477 |
193 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1363993356 CA389733334 |
195 | D>G | No |
ClinGen TOPMed |
|
|
CA7189365 rs367582288 |
196 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM553083 rs760078430 CA7189363 |
197 | W>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
rs771297516 CA260950387 |
199 | I>M | No |
ClinGen Ensembl |
|
| TCGA novel | 201 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389733286 rs1243894041 |
202 | V>I | No |
ClinGen gnomAD |
|
|
rs1288167159 CA389733277 |
203 | I>N | No |
ClinGen TOPMed |
|
|
rs763423458 CA7189339 |
211 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs933839001 CA260948986 |
213 | T>A | No |
ClinGen Ensembl |
|
|
rs1265446799 CA389733190 |
213 | T>I | No |
ClinGen TOPMed |
|
|
CA7189338 rs371953445 |
215 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1203511077 CA389733172 |
216 | R>* | No |
ClinGen TOPMed |
|
|
rs1172188263 CA389733170 |
216 | R>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 218 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776771080 CA7189316 |
228 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 228 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs62639686 CA7189299 |
230 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7189297 rs750887051 |
231 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA7189296 rs765743043 |
232 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA389732511 rs765743043 |
232 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA7189294 rs753901014 |
234 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA260945537 rs890238334 |
238 | E>D | No |
ClinGen Ensembl |
|
|
rs746218732 CA7189274 |
239 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757739519 CA7189272 |
240 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757739519 CA7189273 |
240 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367547088 CA7189271 |
241 | C>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389732398 rs1404625176 |
241 | C>Y | No |
ClinGen gnomAD |
|
|
CA389732380 rs1425801883 |
243 | E>V | No |
ClinGen gnomAD |
|
|
rs764120860 CA7189270 |
245 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1282480040 CA389732346 |
247 | F>C | No |
ClinGen TOPMed |
|
|
rs1476596528 CA389732341 |
248 | Y>H | No |
ClinGen gnomAD |
|
|
CA389732333 rs1374061934 |
249 | R>G | No |
ClinGen gnomAD |
|
|
rs752896637 CA389732328 |
249 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs767628708 CA7189267 |
251 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7189266 rs759859338 |
252 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 254 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7189264 rs765159794 |
256 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7189263 rs761799622 |
257 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs930999372 CA260945315 |
261 | H>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 265 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA260945300 rs1042277948 |
265 | R>T | No |
ClinGen Ensembl |
|
|
rs1344125435 CA389732145 |
271 | T>N | No |
ClinGen gnomAD |
|
|
rs761716281 CA7189243 |
272 | W>C | No |
ClinGen ExAC |
|
|
rs753764966 CA7189242 |
275 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA7189241 rs763937880 |
276 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 277 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389732095 rs1220101607 |
278 | G>E | No |
ClinGen gnomAD |
|
|
CA7189240 rs760728595 |
279 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA389732072 rs1277907032 |
281 | I>S | No |
ClinGen gnomAD |
|
|
CA389732073 rs1277907032 |
281 | I>T | No |
ClinGen gnomAD |
|
|
rs149002286 CA7189239 |
283 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs771654338 CA7189238 |
285 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA389732039 rs1342448658 |
286 | Q>P | No |
ClinGen gnomAD |
|
|
COSM117956 CA7189236 rs774016389 |
287 | R>* | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs771216182 CA7189235 |
290 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749646868 CA7189234 |
291 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs991342298 CA260941779 |
291 | I>V | No |
ClinGen Ensembl |
|
|
CA389732004 rs1414726122 |
292 | L>M | No |
ClinGen gnomAD |
|
|
CA7189232 rs770178309 |
293 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs374071417 CA7189233 |
293 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7189230 rs781088934 |
294 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1594820998 CA389731983 |
295 | G>E | No |
ClinGen Ensembl |
|
|
rs1360006598 CA389731986 |
295 | G>R | No |
ClinGen gnomAD |
|
|
rs1459804013 CA389731965 |
298 | P>A | No |
ClinGen gnomAD |
|
|
rs1442785730 CA389731962 |
298 | P>R | No |
ClinGen TOPMed |
|
|
rs1446687003 CA389731927 |
303 | N>I | No |
ClinGen gnomAD |
|
|
CA389731899 rs1309345626 |
307 | L>F | No |
ClinGen TOPMed |
|
|
CA7189227 rs542544751 |
308 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389731893 rs1566636084 |
308 | Y>H | No |
ClinGen Ensembl |
|
|
CA7189228 rs542544751 |
308 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389731882 rs1225566751 |
310 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA389731860 rs1314977836 |
313 | R>K | No |
ClinGen gnomAD |
|
|
rs758763441 CA260941738 |
314 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs758763441 CA7189226 |
314 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1175620733 CA389731837 |
317 | K>E | No |
ClinGen gnomAD |
|
|
rs143610986 CA7189221 |
323 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143610986 CA389731794 |
323 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs573835773 CA7189220 |
324 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370745677 CA389731786 |
324 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7189219 rs370745677 |
324 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1386834559 CA389731781 |
325 | P>Q | No |
ClinGen gnomAD |
|
|
CA7189218 rs770556003 |
325 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs773413061 CA7189216 |
326 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA7189217 rs573952507 |
326 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389731763 rs1485319706 |
328 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA389731764 rs1485319706 |
328 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs748551230 CA7189215 |
328 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389731762 rs1217966156 |
328 | Q>P | No |
ClinGen gnomAD |
|
|
rs781727835 CA7189213 |
332 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7189210 rs369212913 |
336 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7189208 rs758675597 |
338 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1313836546 CA389731695 |
338 | E>K | No |
ClinGen gnomAD |
|
|
CA7189207 rs746133119 |
339 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7189206 rs777391697 |
342 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA389731647 rs1410481356 |
344 | L>H | No |
ClinGen TOPMed |
|
|
rs755960363 CA7189205 |
350 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1302040563 CA389731606 |
350 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 353 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1481452889 CA389731570 |
354 | F>L | No |
ClinGen gnomAD |
|
|
CA260941043 rs977506822 |
356 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs775685587 CA7189190 |
357 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA389731541 rs1234909513 |
358 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1455494464 CA389731523 |
360 | E>G | No |
ClinGen TOPMed |
|
|
CA260941038 rs866974289 |
362 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 364 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 365 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7189189 rs543882023 |
365 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs577935729 CA7189188 |
367 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389731471 rs1466049564 |
368 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 368 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA260941018 rs748532189 |
368 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7189187 rs779210741 |
369 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs781494554 CA7189184 |
370 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781494554 CA389731455 |
370 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781012627 CA7189182 |
372 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs754877599 CA7189181 |
372 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1228210378 CA389731437 |
373 | K>Q | No |
ClinGen TOPMed |
|
|
rs751524739 CA7189180 |
373 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 375 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389731164 rs1288292828 |
377 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs774350848 CA7189167 |
379 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7189166 rs771159771 |
383 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 383 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1159775632 CA389731093 |
383 | R>T | No |
ClinGen gnomAD |
|
|
CA7189165 rs749508867 |
384 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780920634 CA7189164 |
385 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA389731061 rs1190090432 |
386 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 387 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1370107 CA389731034 rs1425118971 |
388 | I>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1322406836 CA389731022 |
389 | M>T | No |
ClinGen gnomAD |
|
|
CA7189163 rs768461835 |
390 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746890742 CA7189162 |
393 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs758333053 CA7189160 |
398 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA389730907 rs1312594374 |
398 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA389730880 rs1183270823 |
401 | G>* | No |
ClinGen TOPMed |
|
|
CA260936371 rs990010889 |
407 | G>V | No |
ClinGen Ensembl |
|
|
rs1404429846 CA389730754 |
410 | T>I | No |
ClinGen gnomAD |
|
|
CA389730751 rs1265515058 |
411 | A>T | No |
ClinGen TOPMed |
|
|
rs1321532508 CA389730741 |
413 | K>E | No |
ClinGen TOPMed |
|
|
CA389730735 rs1343785173 |
413 | K>N | No |
ClinGen gnomAD |
|
|
rs773436129 CA7189146 |
417 | S>A | No |
ClinGen ExAC |
|
|
CA7189144 rs190826019 |
419 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772026318 CA7189143 |
420 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389730666 rs1439839927 |
423 | N>K | No |
ClinGen TOPMed |
|
|
rs745834965 CA7189141 |
425 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA260936347 rs746733475 |
426 | E>A | No |
ClinGen Ensembl |
|
|
CA260936302 rs1012737749 |
428 | G>E | No |
ClinGen TOPMed |
|
|
rs956095663 CA260936314 |
428 | G>R | No |
ClinGen Ensembl |
|
|
rs1472131472 CA389730630 |
429 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7189139 rs756745362 |
430 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1349945742 CA389730609 |
432 | E>* | No |
ClinGen gnomAD |
|
|
rs1467779206 CA389730593 |
434 | H>Y | No |
ClinGen TOPMed |
|
|
CA7189136 rs185471588 |
436 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1452153619 CA389730554 |
440 | I>L | No |
ClinGen gnomAD |
|
|
rs753087683 CA7189135 |
444 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA7189134 rs372686338 |
445 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7189132 rs368708365 |
446 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1594816693 CA389730476 |
450 | I>V | No |
ClinGen Ensembl |
|
|
CA260933867 rs17850364 |
456 | E>K | No |
ClinGen Ensembl |
|
|
CA389730399 rs747829852 |
460 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389730386 rs1350515512 |
462 | N>S | No |
ClinGen gnomAD |
|
|
rs1201111098 CA389730388 |
462 | N>Y | No |
ClinGen gnomAD |
|
|
rs781567304 CA7189117 |
466 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs755311984 CA7189116 |
467 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs558210839 CA7189115 |
468 | H>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs548078488 CA260933843 |
468 | H>N | No |
ClinGen Ensembl |
No associated diseases with Q96HE7
Functions
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum lumen | The volume enclosed by the membranes of the endoplasmic reticulum. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| Golgi lumen | The volume enclosed by the membranes of any cisterna or subcompartment of the Golgi apparatus, including the cis- and trans-Golgi networks. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| disulfide oxidoreductase activity | Catalysis of the reaction: substrate with reduced sulfide groups = substrate with oxidized disulfide bonds. |
| FAD binding | Binding to the oxidized form, FAD, of flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes. |
| oxidoreductase activity | Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. |
| protein-disulfide reductase activity | Catalysis of the reaction: a protein with reduced sulfide groups = a protein with oxidized disulfide bonds. |
| thiol oxidase activity | Catalysis of the reaction: 4 R'C(R)SH + O2 = 2 R'C(R)S-S(R)CR' + 2 H2O2. |
17 GO annotations of biological process
| Name | Definition |
|---|---|
| brown fat cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a brown adipocyte, an animal connective tissue cell involved in adaptive thermogenesis. Brown adipocytes contain multiple small droplets of triglycerides and a high number of mitochondria. |
| cell redox homeostasis | Any process that maintains the redox environment of a cell or compartment within a cell. |
| cellular response to hypoxia | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
| chaperone cofactor-dependent protein refolding | The process of assisting in the correct posttranslational noncovalent assembly of proteins, which is dependent on additional protein cofactors. This process occurs over one or several cycles of nucleotide hydrolysis-dependent binding and release. |
| endoplasmic reticulum unfolded protein response | The series of molecular signals generated as a consequence of the presence of unfolded proteins in the endoplasmic reticulum (ER) or other ER-related stress; results in changes in the regulation of transcription and translation. |
| extracellular matrix organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix. |
| insulin processing | The formation of mature insulin by proteolysis of the precursor preproinsulin. The signal sequence is first cleaved from preproinsulin to form proinsulin; proinsulin is then cleaved to release the C peptide, leaving the A and B chains of mature insulin linked by disulfide bridges. |
| intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced in response to a stimulus indicating endoplasmic reticulum (ER) stress, and ends when the execution phase of apoptosis is triggered. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen. |
| peptidyl-proline hydroxylation to 4-hydroxy-L-proline | The modification of peptidyl-proline to form 4-hydroxy-L-proline; catalyzed by procollagen-proline,2-oxoglutarate-4-dioxygenase. |
| protein folding | The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure. |
| protein folding in endoplasmic reticulum | A protein folding process that takes place in the endoplasmic reticulum (ER). Secreted, plasma membrane and organelle proteins are folded in the ER, assisted by chaperones and foldases (protein disulphide isomerases), and additional factors required for optimal folding (ATP, Ca2+ and an oxidizing environment to allow disulfide bond formation). |
| protein maturation by protein folding | The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure that results in the attainment of the full functional capacity of a protein. |
| protein modification process | The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). |
| release of sequestered calcium ion into cytosol | The process in which calcium ions sequestered in the endoplasmic reticulum, Golgi apparatus or mitochondria are released into the cytosolic compartment. |
| response to endoplasmic reticulum stress | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stress acting at the endoplasmic reticulum. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen. |
| response to oxidative stress | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
| response to temperature stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a temperature stimulus. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q03103 | ERO1 | Endoplasmic oxidoreductin-1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q9V3A6 | Ero1L | Ero1-like protein | Drosophila melanogaster (Fruit fly) | PR |
| Q7X9I4 | AERO2 | Endoplasmic reticulum oxidoreductin-2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| B1H1F9 | ero1a | ERO1-like protein alpha | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q7T3D1 | ero1a | ERO1-like protein alpha | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGRGWGFLFG | LLGAVWLLSS | GHGEEQPPET | AAQRCFCQVS | GYLDDCTCDV | ETIDRFNNYR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LFPRLQKLLE | SDYFRYYKVN | LKRPCPFWND | ISQCGRRDCA | VKPCQSDEVP | DGIKSASYKY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SEEANNLIEE | CEQAERLGAV | DESLSEETQK | AVLQWTKHDD | SSDNFCEADD | IQSPEAEYVD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LLLNPERYTG | YKGPDAWKIW | NVIYEENCFK | PQTIKRPLNP | LASGQGTSEE | NTFYSWLEGL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| CVEKRAFYRL | ISGLHASINV | HLSARYLLQE | TWLEKKWGHN | ITEFQQRFDG | ILTEGEGPRR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LKNLYFLYLI | ELRALSKVLP | FFERPDFQLF | TGNKIQDEEN | KMLLLEILHE | IKSFPLHFDE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NSFFAGDKKE | AHKLKEDFRL | HFRNISRIMD | CVGCFKCRLW | GKLQTQGLGT | ALKILFSEKL |
| 430 | 440 | 450 | 460 | ||
| IANMPESGPS | YEFHLTRQEI | VSLFNAFGRI | STSVKELENF | RNLLQNIH |