Q9NZQ7
PR
Gene name |
CD274 |
Protein name |
Programmed cell death 1 ligand 1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:29126 |
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
62 structures for Q9NZQ7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3BIK | X-ray | 265 A | A | 18-239 | PDB |
| 3BIS | X-ray | 264 A | A/B | 18-239 | PDB |
| 3FN3 | X-ray | 270 A | A/B | 19-238 | PDB |
| 3SBW | X-ray | 228 A | C | 19-239 | PDB |
| 4Z18 | X-ray | 195 A | A/B | 19-239 | PDB |
| 4ZQK | X-ray | 245 A | A | 18-132 | PDB |
| 5C3T | X-ray | 180 A | A | 18-134 | PDB |
| 5GGT | X-ray | 280 A | A | 18-134 | PDB |
| 5GRJ | X-ray | 321 A | A | 18-238 | PDB |
| 5IUS | X-ray | 289 A | C/D | 18-239 | PDB |
| 5J89 | X-ray | 220 A | A/B/C/D | 2-134 | PDB |
| 5J8O | X-ray | 230 A | A/B | 18-134 | PDB |
| 5JDR | X-ray | 270 A | A/B | 18-239 | PDB |
| 5JDS | X-ray | 170 A | A | 18-132 | PDB |
| 5N2D | X-ray | 235 A | A/B/C/D | 2-134 | PDB |
| 5N2F | X-ray | 170 A | A/B | 18-134 | PDB |
| 5NIU | X-ray | 201 A | A/B/C/D | 18-134 | PDB |
| 5O45 | X-ray | 099 A | A | 17-134 | PDB |
| 5O4Y | X-ray | 230 A | B/C/E | 18-132 | PDB |
| 5X8L | X-ray | 310 A | A/B/C/D/E | 18-134 | PDB |
| 5X8M | X-ray | 266 A | A | 18-134 | PDB |
| 5XJ4 | X-ray | 230 A | A | 19-238 | PDB |
| 5XXY | X-ray | 290 A | A | 18-133 | PDB |
| 6L8R | NMR | - | A | 260-290 | PDB |
| 6NM7 | X-ray | 243 A | A/B | 19-134 | PDB |
| 6NM8 | X-ray | 279 A | A/B | 19-134 | PDB |
| 6NNV | X-ray | 192 A | A/B/C/D | 18-134 | PDB |
| 6NOJ | X-ray | 233 A | A/B | 18-134 | PDB |
| 6NOS | X-ray | 270 A | A/B | 18-134 | PDB |
| 6NP9 | X-ray | 127 A | A | 18-134 | PDB |
| 6PV9 | X-ray | 200 A | A | 19-239 | PDB |
| 6R3K | X-ray | 220 A | A/B/C/D | 18-134 | PDB |
| 6RPG | X-ray | 270 A | A/B | 18-134 | PDB |
| 6VQN | X-ray | 249 A | A/B/C | 18-134 | PDB |
| 6YCR | X-ray | 154 A | A | 18-134 | PDB |
| 7BEA | X-ray | 245 A | A/B | 18-134 | PDB |
| 7C88 | X-ray | 200 A | C/M | 1-136 | PDB |
| 7CZD | X-ray | 164 A | B/D | 19-134 | PDB |
| 7DCV | NMR | - | A | 232-290 | PDB |
| 7DY7 | X-ray | 242 A | A/B | 18-134 | PDB |
| 7NLD | X-ray | 230 A | A/B/C/D/E/F | 18-134 | PDB |
| 7OUN | X-ray | 190 A | A | 17-134 | PDB |
| 7SJQ | X-ray | 200 A | A | 18-134 | PDB |
| 7TPS | X-ray | 315 A | B/D | 19-227 | PDB |
| 7UX5 | X-ray | 335 A | A/C/E/G/I/K | 18-134 | PDB |
| 7UXO | X-ray | 225 A | A | 18-134 | PDB |
| 7UXP | X-ray | 262 A | A/B | 18-134 | PDB |
| 7UXQ | X-ray | 289 A | A/B | 18-134 | PDB |
| 7VUN | X-ray | 270 A | A/B/C/D/E/F/G/H | 18-134 | PDB |
| 7XAD | X-ray | 300 A | A/D/F/H | 1-238 | PDB |
| 7XAE | X-ray | 344 A | A/B | 1-238 | PDB |
| 7XYQ | X-ray | 285 A | A | 19-225 | PDB |
| 7YDS | X-ray | 230 A | A | 1-136 | PDB |
| 8ALX | X-ray | 110 A | A | 18-134 | PDB |
| 8AOK | X-ray | 160 A | A | 18-134 | PDB |
| 8AOM | X-ray | 220 A | A | 19-239 | PDB |
| 8JBA | X-ray | 260 A | A/B | 18-134 | PDB |
| 8K5N | X-ray | 220 A | A/B | 18-134 | PDB |
| 8OR1 | X-ray | 350 A | A/B | 18-133 | PDB |
| 8P1O | X-ray | 217 A | A/B | 2-134 | PDB |
| 8R6Q | X-ray | 217 A | A/B | 18-134 | PDB |
| AF-Q9NZQ7-F1 | Predicted | AlphaFoldDB |
188 variants for Q9NZQ7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1433541247 CA372836382 |
3 | I>M | No |
ClinGen gnomAD |
|
|
CA4973566 rs748476315 |
4 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs139709512 CA4973567 |
5 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139709512 CA372836391 |
5 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372836395 rs1586762927 |
6 | V>I | No |
ClinGen Ensembl |
|
|
rs1401088731 CA372836406 |
7 | F>C | No |
ClinGen gnomAD |
|
|
rs981554963 CA188504119 |
8 | I>V | No |
ClinGen Ensembl |
|
|
rs1461605894 CA372836423 |
10 | M>L | No |
ClinGen gnomAD |
|
|
rs776345482 CA4973571 |
13 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs765955659 CA4973570 |
13 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1243212672 CA372836481 |
18 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs937227717 CA188504857 |
20 | T>I | No |
ClinGen TOPMed |
|
|
rs1563802741 CA372836507 |
20 | T>S | No |
ClinGen Ensembl |
|
|
rs370800260 CA4973595 |
21 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143235887 CA4973596 |
22 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372836522 rs1485681345 |
23 | V>I | No |
ClinGen gnomAD |
|
|
rs1416019385 CA372836532 |
24 | P>L | No |
ClinGen gnomAD |
|
|
rs766519356 CA4973598 |
24 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4973599 rs754087767 |
25 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1383983432 CA372836549 |
27 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA16040294 rs1299227177 |
28 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA372836570 rs1344190674 |
30 | V>A | No |
ClinGen gnomAD |
|
|
CA4973604 rs778185448 |
31 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs373692552 CA4973603 |
31 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747317241 CA4973605 |
32 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs1312762207 CA372836585 |
33 | G>S | No |
ClinGen gnomAD |
|
|
rs140304675 CA4973606 |
34 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780953696 CA4973607 |
35 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372836609 rs1283319713 |
36 | M>T | No |
ClinGen gnomAD |
|
|
rs1314957482 CA372836619 |
37 | T>I | No |
ClinGen gnomAD |
|
|
rs1586763537 CA372836616 |
37 | T>S | No |
ClinGen Ensembl |
|
|
CA188504916 rs761826556 |
38 | I>T | No |
ClinGen gnomAD |
|
|
rs1213866118 CA372836622 |
38 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA372836630 rs1461816349 |
39 | E>G | No |
ClinGen gnomAD |
|
|
CA4973608 rs745539641 |
40 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1159704687 CA372836697 |
48 | L>S | No |
ClinGen gnomAD |
|
|
CA372836705 rs1474753469 |
49 | D>E | No |
ClinGen gnomAD |
|
|
CA188504930 rs12551333 |
49 | D>H | No |
ClinGen Ensembl |
|
| TCGA novel | 51 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768536942 CA4973612 |
53 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA372836732 rs1359399050 |
54 | I>T | No |
ClinGen gnomAD |
|
|
CA188504941 rs946190869 |
55 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs761553210 CA4973614 |
65 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs928811196 CA188504952 |
65 | I>T | No |
ClinGen Ensembl |
|
|
rs1287818400 CA372836829 |
67 | F>S | No |
ClinGen gnomAD |
|
|
CA372836837 rs1348267937 |
68 | V>E | No |
ClinGen gnomAD |
|
|
CA188504989 rs1037824004 |
69 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4973617 rs759790971 |
71 | E>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1729819 rs1324540301 CA372836869 |
73 | D>H | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1203063146 CA372836884 |
75 | K>T | No |
ClinGen gnomAD |
|
|
rs752777570 CA4973619 |
79 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372836924 rs1183161478 |
80 | S>R | No |
ClinGen gnomAD |
|
|
CA372836953 rs1232871567 |
84 | R>T | No |
ClinGen gnomAD |
|
|
CA372836956 rs1402214489 |
85 | A>T | No |
ClinGen gnomAD |
|
|
rs1468874763 CA372836961 |
85 | A>V | No |
ClinGen gnomAD |
|
|
CA4973621 rs778072834 |
86 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376993991 CA4973620 |
86 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA372836985 rs1468985343 |
90 | D>N | No |
ClinGen gnomAD |
|
|
CA4973623 rs573705392 |
91 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4973624 rs781724241 |
95 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1229371141 CA372837025 |
96 | N>T | No |
ClinGen gnomAD |
|
|
rs1328084621 CA372837030 |
97 | A>T | No |
ClinGen gnomAD |
|
|
CA372837037 rs1333919976 |
98 | A>P | No |
ClinGen gnomAD |
|
|
CA372837054 rs1030540266 |
100 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1438265423 CA372837061 |
101 | I>T | No |
ClinGen gnomAD |
|
|
CA372837076 rs1309241477 |
103 | D>E | No |
ClinGen Ensembl |
|
|
rs769403708 CA4973626 |
105 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1422709412 CA372837099 |
107 | Q>* | No |
ClinGen TOPMed |
|
|
rs1384048609 CA372837113 |
109 | A>T | No |
ClinGen TOPMed |
|
|
CA4973628 rs748692181 |
111 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1272843564 CA372837141 |
113 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1245834802 CA372837181 |
118 | Y>C | No |
ClinGen TOPMed |
|
|
rs1224180886 CA372837202 |
122 | D>N | No |
ClinGen gnomAD |
|
|
CA372837222 rs1208557098 |
124 | K>R | No |
ClinGen TOPMed |
|
|
CA372837226 rs897885359 COSM179199 |
125 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA188505089 rs897885359 |
125 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA372837227 rs1480335907 |
125 | R>Q | No |
ClinGen gnomAD |
|
|
rs1196828713 CA372837244 |
128 | V>L | No |
ClinGen gnomAD |
|
|
CA4973631 rs761784030 |
129 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA4973633 rs771819234 |
131 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4973632 rs771819234 |
131 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759740264 CA4973634 |
131 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1563804793 CA372837283 |
132 | A>D | No |
ClinGen Ensembl |
|
|
CA4973661 rs756382247 |
133 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA372837292 rs1359354988 |
134 | Y>H | No |
ClinGen gnomAD |
|
|
rs972369904 CA188508525 |
136 | K>R | No |
ClinGen Ensembl |
|
|
rs1351902556 CA372837328 |
138 | N>K | No |
ClinGen gnomAD |
|
|
CA4973664 rs754723387 |
139 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA188508529 rs754723387 |
139 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA4973666 rs747598352 |
140 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA372837347 rs1294799153 |
141 | I>M | No |
ClinGen TOPMed |
|
|
rs1010004471 CA188508539 |
142 | L>F | No |
ClinGen TOPMed |
|
|
rs1369526855 CA372837351 |
142 | L>S | No |
ClinGen TOPMed |
|
|
CA372837356 rs1442730971 |
143 | V>F | No |
ClinGen gnomAD |
|
|
rs777646017 CA4973668 |
145 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs17718883 CA4973669 |
146 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1364124683 CA372837373 |
146 | P>T | No |
ClinGen gnomAD |
|
|
rs1393730393 CA372837378 |
147 | V>I | No |
ClinGen TOPMed |
|
|
CA4973670 rs140045210 |
148 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1337504943 CA372837413 |
152 | E>A | No |
ClinGen gnomAD |
|
|
rs367921713 CA4973672 |
152 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA188508563 rs769060913 |
153 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs769060913 CA4973673 |
153 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA188508572 rs990398091 |
154 | T>I | No |
ClinGen TOPMed |
|
|
CA4973675 rs761920428 |
160 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372837463 rs761920428 |
160 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372837477 rs1563804897 |
162 | K>E | No |
ClinGen Ensembl |
|
|
COSM404245 rs146495642 CA4973679 |
164 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA372837496 rs1203695163 |
165 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA372837497 rs1203695163 |
165 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4973681 rs759831300 |
166 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA188508612 rs1034673445 |
168 | T>R | No |
ClinGen TOPMed |
|
| TCGA novel | 169 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA188508619 rs938766620 |
170 | S>R | No |
ClinGen Ensembl |
|
|
CA4973683 rs752376007 |
172 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4973684 rs757853872 |
173 | Q>E | No |
ClinGen ExAC |
|
|
CA4973685 rs777315316 |
174 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1288583492 CA372837596 |
179 | T>I | No |
ClinGen TOPMed |
|
|
rs555485716 CA4973689 |
182 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4973690 rs769718308 |
183 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748426885 CA4973692 |
185 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs41280721 CA4973694 |
186 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1391142371 CA372837638 |
186 | R>T | No |
ClinGen gnomAD |
|
|
CA372837646 rs1347840317 |
187 | E>D | No |
ClinGen gnomAD |
|
|
rs1038226636 CA188508736 |
187 | E>Q | No |
ClinGen Ensembl |
|
|
rs1223717276 CA372837656 |
189 | K>E | No |
ClinGen gnomAD |
|
|
rs1282309370 CA372837668 |
190 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1206020644 CA372837681 |
192 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4973696 rs771411078 |
193 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1269175425 COSM179200 CA372837711 |
197 | L>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1200397607 CA372837723 |
199 | I>V | No |
ClinGen gnomAD |
|
|
rs759852362 CA4973698 |
201 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 204 | N>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752325108 CA4973700 |
208 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367847391 CA372837805 |
210 | T>I | No |
ClinGen gnomAD |
|
|
rs1302075361 CA372837828 |
214 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1288445239 CA372837836 |
215 | D>H | No |
ClinGen TOPMed |
|
| TCGA novel | 216 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 216 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1343256029 CA372837849 |
217 | E>K | No |
ClinGen gnomAD |
|
|
rs762635948 CA4973701 |
218 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs763507364 CA4973702 |
220 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs756735299 CA4973704 |
221 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA4973705 rs781122195 |
223 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA372837906 rs1268401102 |
225 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA372837922 rs1489928271 |
227 | P>R | No |
ClinGen gnomAD |
|
|
rs1451791610 CA372837957 |
231 | L>R | No |
ClinGen gnomAD |
|
|
CA188510264 rs747218330 |
232 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA4973733 rs747218330 |
232 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs61752860 CA4973735 |
233 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM608736 CA4973734 rs757337666 |
233 | H>Y | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA372837981 rs1563805801 |
236 | N>D | No |
ClinGen Ensembl |
|
|
rs746369816 CA4973736 |
237 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 240 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775991047 CA4973738 |
240 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA372838010 rs1265054970 |
240 | H>Y | No |
ClinGen gnomAD |
|
|
CA372838022 rs1373165399 |
242 | V>I | No |
ClinGen TOPMed |
|
|
CA4973741 rs774011022 |
245 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA4973742 rs761425208 |
246 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1178197251 CA372838078 |
250 | C>W | No |
ClinGen gnomAD |
|
|
rs1471394287 CA372838074 |
250 | C>Y | No |
ClinGen gnomAD |
|
|
rs1404070807 CA372838082 |
251 | L>H | No |
ClinGen TOPMed |
|
|
rs1563805833 CA372838087 |
252 | G>C | No |
ClinGen Ensembl |
|
|
CA188510292 rs1035717099 |
257 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1586768672 CA372838121 |
258 | I>L | No |
ClinGen Ensembl |
|
|
CA4973746 rs760272527 |
258 | I>M | No |
ClinGen ExAC |
|
|
rs568608390 CA4973747 COSM293117 |
260 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA4973748 rs148141792 |
260 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1487811405 CA372838186 |
266 | M>V | No |
ClinGen TOPMed |
|
|
rs1243316924 CA372838198 |
267 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 267 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372838208 rs1475495195 |
268 | D>V | No |
ClinGen gnomAD |
|
|
rs141978642 CA4973769 |
269 | V>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1426273970 CA372838245 |
273 | G>V | No |
ClinGen gnomAD |
|
|
rs1323661579 CA372838252 |
274 | I>M | No |
ClinGen TOPMed |
|
|
CA4973770 COSM456003 rs752493356 |
276 | D>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA372838269 rs1364785523 |
277 | T>A | No |
ClinGen gnomAD |
|
|
rs762822678 CA4973771 |
278 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA372838303 rs765212963 |
282 | Q>E | No |
ClinGen TOPMed |
|
|
rs765212963 CA188511051 |
282 | Q>K | No |
ClinGen TOPMed |
|
|
CA372838331 rs1265659593 |
284 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA372838332 rs1265659593 |
284 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA188511075 rs752869241 |
284 | D>Y | No |
ClinGen Ensembl |
|
|
rs1460086933 CA372838344 |
286 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 287 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372838371 rs766429149 |
289 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369350813 CA4973796 |
290 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369350813 CA4973795 |
290 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
1 associated diseases with Q9NZQ7
Without disease ID
Functions
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| early endosome membrane | The lipid bilayer surrounding an early endosome. |
| external side of plasma membrane | The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| recycling endosome membrane | The lipid bilayer surrounding a recycling endosome. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
20 GO annotations of biological process
| Name | Definition |
|---|---|
| adaptive immune response | An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). |
| cell surface receptor signaling pathway | The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. |
| cellular response to lipopolysaccharide | 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 lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. |
| immune response | Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. |
| negative regulation of activated T cell proliferation | Any process that stops, prevents or reduces the rate or extent of activated T cell proliferation. |
| negative regulation of CD4-positive, alpha-beta T cell proliferation | Any process that stops, prevents or reduces the frequency, rate or extent of CD4-positive, alpha-beta T cell proliferation. |
| negative regulation of CD8-positive, alpha-beta T cell activation | Any process that stops, prevents or reduces the frequency, rate or extent of CD8-positive, alpha-beta T cell activation. |
| negative regulation of interferon-gamma production | Any process that stops, prevents, or reduces the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon. |
| negative regulation of interleukin-10 production | Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-10 production. |
| negative regulation of T cell proliferation | Any process that stops, prevents or reduces the rate or extent of T cell proliferation. |
| negative regulation of tumor necrosis factor superfamily cytokine production | Any process that stops, prevents or reduces the frequency, rate or extent of tumor necrosis factor superfamily cytokine production. |
| positive regulation of activated CD8-positive, alpha-beta T cell apoptotic process | Any process that activates or increases the frequency, rate or extent of activated CD8-positive, alpha-beta T cell apoptotic process. |
| positive regulation of cell migration | Any process that activates or increases the frequency, rate or extent of cell migration. |
| positive regulation of interleukin-10 production | Any process that activates or increases the frequency, rate, or extent of interleukin-10 production. |
| positive regulation of T cell proliferation | Any process that activates or increases the rate or extent of T cell proliferation. |
| positive regulation of tolerance induction to tumor cell | Any process that activates or increases the frequency, rate, or extent of tolerance induction to tumor cell. |
| response to cytokine | 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 cytokine stimulus. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| T cell costimulation | The process of providing, via surface-bound receptor-ligand pairs, a second, antigen-independent, signal in addition to that provided by the T cell receptor to augment T cell activation. |
| toxin transport | The directed movement of a toxin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9EP73 | Cd274 | Programmed cell death 1 ligand 1 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRIFAVFIFM | TYWHLLNAFT | VTVPKDLYVV | EYGSNMTIEC | KFPVEKQLDL | AALIVYWEME |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DKNIIQFVHG | EEDLKVQHSS | YRQRARLLKD | QLSLGNAALQ | ITDVKLQDAG | VYRCMISYGG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ADYKRITVKV | NAPYNKINQR | ILVVDPVTSE | HELTCQAEGY | PKAEVIWTSS | DHQVLSGKTT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TTNSKREEKL | FNVTSTLRIN | TTTNEIFYCT | FRRLDPEENH | TAELVIPELP | LAHPPNERTH |
| 250 | 260 | 270 | 280 | ||
| LVILGAILLC | LGVALTFIFR | LRKGRMMDVK | KCGIQDTNSK | KQSDTHLEET |