P27824
Gene name |
CANX |
Protein name |
Calnexin |
Names |
IP90, Major histocompatibility complex class I antigen-binding protein p88, p90 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:821 |
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
1 structures for P27824
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P27824-F1 | Predicted | AlphaFoldDB |
397 variants for P27824
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs200510202 CA3598209 |
2 | E>K | No |
ClinGen ExAC TOPMed |
|
|
rs776034798 CA3598210 |
3 | G>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA362443052 rs1436918966 |
3 | G>R | No |
TOPMed ClinGen |
|
|
rs776034798 CA133098244 |
3 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362443084 rs1174029586 |
4 | K>N | No |
gnomAD ClinGen |
|
|
CA362443078 rs1481345816 |
4 | K>R | No |
gnomAD ClinGen |
|
|
rs761316605 CA3598211 |
5 | W>* | No |
ExAC gnomAD ClinGen |
|
|
COSM1066679 CA362443111 rs1454098604 |
6 | L>S | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA362443127 rs1290306845 |
7 | L>P | No |
ClinGen gnomAD |
|
|
rs551656982 CA3598212 |
8 | C>F | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA362443141 rs551656982 |
8 | C>S | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA362443139 rs551656982 |
8 | C>Y | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1323578074 CA362443155 |
9 | M>V | No |
TOPMed gnomAD ClinGen |
|
|
CA3598213 CA3598214 rs750129275 |
12 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362443201 rs750129275 |
12 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1030608231 CA133098319 |
13 | L>F | No |
Ensembl ClinGen |
|
|
CA3598216 rs753040389 |
15 | T>A | No |
ExAC gnomAD ClinGen |
|
|
CA3598217 rs756604999 |
17 | I>V | No |
ClinGen ExAC TOPMed |
|
|
CA3598219 COSM2151341 rs753869333 |
20 | A>T | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA362443307 rs1204646574 |
21 | H>R | No |
ClinGen gnomAD |
|
|
rs779124132 CA362443313 |
22 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779124132 CA3598221 |
22 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3598220 rs757304942 |
22 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144777925 CA3598222 |
24 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs961708620 CA133098358 |
25 | D>V | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 27 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1581849658 CA362443397 |
28 | V>A | No |
ClinGen Ensembl |
|
|
CA133098359 rs773718862 |
28 | V>L | No |
TOPMed gnomAD ClinGen |
|
|
CA362443390 rs773718862 |
28 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA3598223 rs146806845 |
29 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs980114112 CA133098364 |
31 | I>V | No |
Ensembl ClinGen |
|
|
rs768479664 CA3598226 |
32 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3598225 rs746759221 |
32 | E>Q | No |
ExAC gnomAD ClinGen |
|
|
CA362443481 rs1366842266 |
34 | D>H | No |
gnomAD ClinGen |
|
|
CA3598227 rs148961304 COSM1066681 |
37 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA362443545 rs1230313556 |
38 | V>A | No |
TOPMed ClinGen |
|
|
rs761639685 CA133098400 |
39 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769409264 CA3598229 |
39 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs761639685 CA3598228 |
39 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA362443645 rs1216565124 |
44 | D>Y | No |
gnomAD ClinGen |
|
| TCGA novel | 45 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3598231 rs762646334 |
48 | D>E | No |
ClinGen ExAC |
|
|
rs1292746299 CA362443715 |
48 | D>V | No |
gnomAD ClinGen |
|
| TCGA novel | 49 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1220343895 CA362443751 |
50 | T>A | No |
gnomAD ClinGen |
|
|
CA133098436 rs1057284737 |
50 | T>S | No |
Ensembl ClinGen |
|
|
rs1220343895 CA362443748 |
50 | T>S | No |
gnomAD ClinGen |
|
|
CA3598233 rs775866282 |
52 | P>L | No |
ExAC gnomAD ClinGen |
|
|
rs918786337 CA133098463 |
52 | P>S | No |
Ensembl ClinGen |
|
| TCGA novel | 52 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3598234 rs761034514 |
53 | P>S | No |
ExAC ClinGen |
|
|
CA133098482 rs929069704 |
54 | S>L | No |
ClinGen Ensembl |
|
|
rs1047432279 CA133098485 |
55 | S>T | No |
Ensembl ClinGen |
|
|
rs764524851 CA3598235 |
56 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3598249 rs376343417 |
61 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1206480222 CA362444323 |
64 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1206480222 CA362444318 |
64 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA362444336 rs1249521943 |
65 | P>A | No |
ClinGen gnomAD |
|
|
CA133098899 rs992851702 |
65 | P>L | No |
ClinGen gnomAD |
|
|
CA362444346 rs1388509469 |
66 | T>A | No |
ClinGen TOPMed |
|
|
CA3598250 rs773937151 |
67 | G>E | No |
ExAC ClinGen |
|
|
rs867506993 CA133098934 |
68 | E>K | No |
ClinGen Ensembl |
|
|
rs544838582 CA3598252 |
72 | A>V | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA3598253 rs776837383 |
73 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3598254 rs762405151 |
74 | S>C | No |
ExAC gnomAD ClinGen |
|
|
CA362444473 rs1182453105 |
74 | S>P | No |
gnomAD ClinGen |
|
|
rs1429746963 CA362444530 |
77 | R>G | No |
gnomAD ClinGen |
|
|
CA3598255 rs765797003 |
78 | G>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3598258 rs766551548 |
81 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362444724 rs1562473876 |
84 | I>V | No |
ClinGen Ensembl |
|
|
CA133099674 rs997403805 |
87 | K>N | No |
ClinGen gnomAD |
|
|
CA3598271 rs547055719 |
87 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1252347167 CA362444789 |
88 | A>T | No |
ClinGen TOPMed |
|
|
rs1453086043 CA362444821 |
90 | K>E | No |
ClinGen gnomAD |
|
|
rs1255080613 CA362444867 |
92 | D>G | No |
ClinGen TOPMed |
|
|
CA362444855 rs1339766611 |
92 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
rs763547100 CA3598274 |
94 | D>G | No |
ExAC gnomAD ClinGen |
|
|
CA3598273 rs368902277 |
94 | D>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs987279848 CA133099735 |
95 | D>H | No |
ClinGen TOPMed |
|
|
rs867331488 CA133099743 |
98 | A>V | No |
ClinGen Ensembl |
|
|
rs1224066167 CA362446393 |
103 | K>N | No |
gnomAD ClinGen |
|
|
rs763601463 CA3598292 |
105 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA362446490 rs1450333440 |
107 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs531497541 CA3598293 |
110 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774523334 CA3598294 |
111 | E>A | No |
ExAC gnomAD ClinGen |
|
|
rs1581856329 CA362446619 |
111 | E>K | No |
ClinGen Ensembl |
|
|
CA362446685 rs1581856354 |
112 | S>L | No |
ClinGen Ensembl |
|
|
rs767797862 CA3598296 |
113 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA362446701 rs1175755473 |
113 | K>Q | No |
ClinGen gnomAD |
|
|
CA362446757 rs1425441266 |
116 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 119 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3598298 rs760882703 |
123 | M>K | No |
ExAC gnomAD ClinGen |
|
|
rs763918161 CA3598299 |
125 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362447016 rs1329319100 |
125 | R>W | No |
gnomAD ClinGen |
|
|
CA362447067 rs1562477210 |
127 | K>M | No |
ClinGen Ensembl |
|
|
CA3598300 rs753609572 |
128 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 129 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1384938731 CA362447150 |
130 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 132 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1383056902 CA362447241 |
133 | A>T | No |
ClinGen gnomAD |
|
|
rs1364804402 CA362447271 |
133 | A>V | No |
ClinGen TOPMed |
|
|
rs778647017 CA3598302 |
134 | K>E | No |
ExAC gnomAD ClinGen |
|
|
rs767277435 CA3598303 |
136 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3598305 rs79378421 |
140 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA133100724 rs1031288128 |
140 | L>P | No |
TOPMed gnomAD ClinGen |
|
|
CA362447481 rs1031288128 |
140 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA362447500 rs1208660807 |
141 | F>S | No |
ClinGen gnomAD |
|
|
rs1013113374 CA133100742 |
144 | K>T | No |
ClinGen Ensembl |
|
|
rs1439982711 CA362447691 |
148 | V>F | No |
ClinGen gnomAD |
|
|
rs1409462926 CA362448059 |
153 | N>S | No |
TOPMed ClinGen |
|
|
rs1420228343 CA362448120 |
156 | N>S | No |
TOPMed ClinGen |
|
|
CA3598325 rs377451496 |
157 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3598326 rs780927363 |
158 | I>L | No |
ExAC gnomAD ClinGen |
|
|
rs889578700 CA133101373 |
158 | I>R | No |
Ensembl ClinGen |
|
|
rs1382308411 CA362448300 |
164 | Y>C | No |
ClinGen gnomAD |
|
|
CA362448324 rs1319639074 |
165 | V>G | No |
gnomAD ClinGen |
|
| TCGA novel | 166 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779331457 CA3598329 |
169 | S>C | No |
ExAC ClinGen |
|
|
CA3598331 rs772612377 |
170 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA362448496 rs1324764556 |
173 | E>D | No |
ClinGen gnomAD |
|
|
rs775569975 CA3598332 |
173 | E>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA3598333 rs747023297 |
174 | L>F | No |
ExAC gnomAD ClinGen |
|
|
CA362448501 rs747023297 |
174 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs143726426 CA3598334 |
174 | L>P | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs143726426 CA133101414 |
174 | L>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 177 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1215986273 CA362449624 |
178 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3598349 rs758832045 |
179 | F>L | No |
ExAC gnomAD ClinGen |
|
|
rs780479093 CA3598350 |
180 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133102323 rs904374755 |
181 | D>E | No |
TOPMed gnomAD ClinGen |
|
|
rs1183586805 CA362449812 |
184 | P>A | No |
ClinGen gnomAD |
|
|
rs1040946377 CA133102356 |
185 | Y>F | No |
Ensembl ClinGen |
|
|
CA3598354 rs748363222 |
186 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1366740689 CA362449986 |
191 | P>T | No |
gnomAD ClinGen |
|
|
rs1562480957 CA362450055 |
193 | K>R | No |
ClinGen Ensembl |
|
|
CA133102376 rs1031621798 |
194 | C>W | No |
TOPMed ClinGen |
|
| TCGA novel | 195 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3598356 rs772909275 |
197 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA3598357 rs762744899 |
198 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3598358 rs771008892 |
199 | K>E | No |
ExAC gnomAD ClinGen |
|
|
rs1581860511 CA362450262 |
201 | H>R | No |
Ensembl ClinGen |
|
|
rs767177938 CA362450392 |
204 | F>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3598362 rs752230231 |
205 | R>* | No |
ExAC gnomAD ClinGen |
|
|
rs1315765352 CA362450416 |
205 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA362450446 rs1291386793 |
206 | H>R | No |
ClinGen TOPMed |
|
|
rs141861672 CA3598365 |
207 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs150270438 CA3598366 |
207 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780392943 CA3598367 |
208 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3598368 rs752100105 |
210 | K>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1450630294 CA362450550 |
210 | K>R | No |
ClinGen gnomAD |
|
|
rs755452646 CA362450570 |
211 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755452646 COSM268836 CA133102434 |
211 | T>M | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs755452646 CA3598369 |
211 | T>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs781268361 CA3598370 |
212 | G>A | No |
ExAC gnomAD ClinGen |
|
|
CA362450580 rs948199686 |
212 | G>C | No |
TOPMed gnomAD ClinGen |
|
|
rs781268361 CA3598371 |
212 | G>D | No |
ExAC gnomAD ClinGen |
|
|
rs948199686 CA133102444 |
212 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs769909544 CA3598372 |
214 | Y>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA362450655 rs1462873207 |
215 | E>D | No |
gnomAD ClinGen |
|
| TCGA novel | 218 | H>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA133102528 rs1003507982 |
218 | H>R | No |
Ensembl ClinGen |
|
|
CA362450756 rs1398407877 |
220 | K>M | No |
gnomAD ClinGen |
|
|
rs777997443 CA362450809 |
223 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA3598373 rs777997443 |
223 | D>N | No |
ExAC gnomAD ClinGen |
|
|
CA133102538 rs1015102398 |
224 | A>G | No |
ClinGen Ensembl |
|
|
rs207466646 CA133102541 |
225 | D>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 226 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3598374 rs749461583 |
226 | L>V | No |
ExAC gnomAD ClinGen |
|
|
CA3598375 rs770921171 |
228 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1312004454 CA362451072 |
233 | K>E | No |
ClinGen gnomAD |
|
|
rs1229358068 CA362451110 |
234 | K>R | No |
gnomAD ClinGen |
|
|
CA3598427 rs761267434 |
244 | P>T | No |
ExAC gnomAD ClinGen |
|
|
rs1219967178 CA362453533 |
245 | D>N | No |
ClinGen TOPMed |
|
|
rs764469757 CA3598428 |
249 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs753972476 CA3598429 |
255 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362453739 rs1237790098 |
258 | N>S | No |
ClinGen gnomAD |
|
|
CA3598432 rs750712444 |
259 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3598431 rs765401038 |
259 | S>R | No |
ExAC gnomAD ClinGen |
|
|
rs758525989 CA3598433 |
259 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362453769 rs750712444 |
259 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362453829 rs1401160238 |
262 | L>M | No |
TOPMed ClinGen |
|
|
CA133112325 rs961067950 |
266 | M>I | No |
ClinGen TOPMed |
|
|
CA362453914 rs1171164764 |
266 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs965188301 CA133112329 |
267 | T>S | No |
ClinGen Ensembl |
|
|
CA362454031 rs1463846811 |
269 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3598434 rs573991716 |
269 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 269 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1562496714 CA362454097 |
271 | N>S | No |
Ensembl ClinGen |
|
|
CA3598435 rs143170114 |
273 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3598436 rs754945089 |
274 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs970217783 COSM1543554 CA133112338 |
274 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs970217783 CA362454157 |
274 | R>L | No |
TOPMed gnomAD ClinGen |
|
|
CA362454220 rs1339245777 |
276 | I>L | No |
ClinGen gnomAD |
|
|
CA133112344 rs935452629 |
277 | E>G | No |
ClinGen TOPMed |
|
|
CA3598439 rs769363661 |
279 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1342844362 CA362454383 |
280 | E>A | No |
ClinGen gnomAD |
|
|
rs1217180939 CA362454393 |
280 | E>D | No |
ClinGen gnomAD |
|
|
CA362454382 rs1279368061 |
280 | E>K | No |
ClinGen gnomAD |
|
|
CA362454414 rs1257673448 |
281 | D>N | No |
gnomAD ClinGen |
|
|
CA3598441 rs748992336 |
282 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3598440 rs777237586 |
282 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA133112361 rs553234403 COSM1066683 |
285 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed |
|
CA3598445 rs769221257 |
290 | R>I | No |
ExAC gnomAD ClinGen |
|
|
rs770456727 CA133112369 |
292 | K>E | No |
Ensembl ClinGen |
|
|
rs1256933838 CA362454796 |
293 | I>L | No |
ClinGen TOPMed |
|
| TCGA novel | 293 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362454868 rs1377855011 |
294 | P>L | No |
gnomAD ClinGen |
|
|
CA133112375 rs901153010 |
295 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3598449 rs750481212 |
298 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs763262566 CA3598450 |
298 | A>V | No |
ExAC gnomAD ClinGen |
|
|
CA3598452 rs751380083 |
299 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766441669 CA3598451 |
299 | V>L | No |
ExAC gnomAD ClinGen |
|
|
rs780963402 CA3598454 |
300 | K>R | No |
ExAC gnomAD ClinGen |
|
|
rs756081134 CA3598474 |
305 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 306 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1015978938 CA133113597 |
307 | D>V | No |
ClinGen Ensembl |
|
|
rs1438518619 CA362456286 |
310 | A>G | No |
gnomAD ClinGen |
|
|
rs778453311 CA3598478 |
311 | K>E | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 314 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1291175824 CA362456396 |
315 | E>K | No |
TOPMed ClinGen |
|
|
rs745553209 CA3598479 |
316 | E>G | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 317 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA133113619 rs1028893049 |
318 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 318 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 320 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140056120 CA3598481 |
321 | E>K | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA362456603 rs1398453182 |
322 | G>D | No |
ClinGen TOPMed |
|
|
rs748457502 CA3598482 |
327 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA133113629 rs987293060 |
328 | P>A | No |
ClinGen Ensembl |
|
|
CA362456832 rs1390890761 |
331 | V>E | No |
ClinGen gnomAD |
|
|
CA3598484 rs557592892 |
331 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1313354040 CA362456870 |
333 | D>V | No |
ClinGen gnomAD |
|
|
CA3598485 rs143596594 |
334 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA133113635 rs779436099 |
335 | D>G | No |
TOPMed ClinGen |
|
|
CA133113637 rs764247531 |
336 | A>T | No |
ClinGen gnomAD |
|
|
CA362456922 rs1318298193 |
336 | A>V | No |
ClinGen gnomAD |
|
|
rs1562504500 CA362456952 |
338 | K>T | No |
Ensembl ClinGen |
|
|
rs890647782 CA133113648 |
341 | D>Y | No |
TOPMed ClinGen |
|
|
rs551597848 CA133113812 |
343 | D>N | No |
ClinGen Ensembl |
|
|
CA3598519 rs761684718 |
345 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs765151089 CA3598520 |
345 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1451533282 CA362457202 |
345 | D>N | No |
TOPMed ClinGen |
|
|
CA3598521 rs749914552 |
348 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312272162 CA362457299 |
350 | W>R | No |
gnomAD ClinGen |
|
|
CA3598524 rs765982240 |
351 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227565725 CA362457346 |
352 | A>P | No |
TOPMed gnomAD ClinGen |
|
|
rs1274228025 CA362457363 |
353 | P>S | No |
ClinGen TOPMed |
|
|
rs754657559 CA3598526 |
355 | I>V | No |
ExAC gnomAD ClinGen |
|
|
rs1581889808 COSM1672179 CA362457531 |
359 | R>K | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
Ensembl ClinGen cosmic curated |
|
CA3598527 rs778023419 |
363 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs920342866 CA133113822 |
364 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3598529 rs199941318 |
368 | V>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs779422274 CA3598530 |
371 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs746365417 CA3598531 |
372 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 373 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772209604 CA3598532 |
373 | V>M | No |
ExAC gnomAD ClinGen |
|
|
CA362457896 rs1330434566 |
374 | I>T | No |
ClinGen TOPMed |
|
|
CA3598534 rs747252071 |
377 | P>L | No |
ExAC gnomAD ClinGen |
|
|
rs556166734 CA3598536 |
385 | P>L | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA362458311 rs1431514907 |
385 | P>T | No |
gnomAD ClinGen |
|
|
rs1307082089 CA362458390 |
387 | M>I | No |
TOPMed ClinGen |
|
|
rs1380866746 CA362458354 |
387 | M>V | No |
gnomAD ClinGen |
|
|
rs761606840 CA3598537 |
389 | D>V | No |
ClinGen ExAC |
|
| TCGA novel | 391 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3598538 rs769462879 |
391 | P>R | No |
ExAC gnomAD ClinGen |
|
|
CA3598541 rs762950869 |
392 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3598540 rs762950869 |
392 | S>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3598567 rs765641166 |
399 | P>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA362459787 rs1292417898 |
402 | I>M | No |
gnomAD ClinGen |
|
|
rs187644199 CA3598568 |
402 | I>T | No |
ClinGen 1000Genomes ExAC |
|
|
CA3598569 rs373500447 |
403 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1224355088 CA362459921 |
411 | L>V | No |
TOPMed ClinGen |
|
|
rs766809881 CA3598570 |
412 | E>A | No |
ExAC gnomAD ClinGen |
|
|
CA3598571 rs751992765 |
413 | P>A | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 415 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149513016 CA3598572 |
415 | R>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 415 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 416 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370228321 CA133114448 |
417 | T>A | No |
Ensembl ClinGen |
|
| TCGA novel | 420 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144513282 CA3598574 |
422 | I>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs144513282 CA3598573 |
422 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148399587 CA3598577 |
432 | D>Y | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 435 | F>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs760711956 | 435 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs555626485 CA3598579 |
439 | I>V | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1327542299 CA362460759 |
442 | A>P | No |
ClinGen gnomAD |
|
|
CA362460768 rs1327542299 |
442 | A>S | No |
ClinGen gnomAD |
|
|
rs774489318 CA3598580 |
443 | D>N | No |
ExAC gnomAD ClinGen |
|
|
CA3598581 rs369795296 |
444 | R>G | No |
ESP ExAC gnomAD ClinGen |
|
|
rs771656553 CA362460852 |
444 | R>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs771656553 CA3598582 |
444 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1354013828 CA362460920 |
446 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA362460974 rs1175007698 |
447 | V>A | No |
ClinGen TOPMed |
|
|
CA362461016 rs1233048370 |
448 | D>G | No |
gnomAD ClinGen |
|
|
CA362461117 rs868822397 |
451 | A>S | No |
ClinGen Ensembl |
|
|
rs868822397 CA133114468 |
451 | A>T | No |
ClinGen Ensembl |
|
|
CA3598583 rs373402263 |
452 | N>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA362461196 rs1562512599 |
453 | D>G | No |
Ensembl ClinGen |
|
|
CA362461298 rs763666522 |
456 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA3598584 rs760400717 |
456 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs763666522 CA3598585 |
456 | G>V | No |
ExAC gnomAD ClinGen |
|
|
CA3598588 rs766725772 |
458 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3598589 rs780711642 |
459 | K>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs146501349 CA3598591 |
460 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756411854 CA3598593 |
462 | D>G | No |
ExAC gnomAD ClinGen |
|
|
CA3598595 rs749509239 |
463 | G>E | No |
ExAC gnomAD ClinGen |
|
|
rs757188323 CA3598596 |
464 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs980024048 CA133114496 |
466 | E>K | No |
ClinGen TOPMed |
|
|
rs1189288785 CA362462089 |
467 | P>S | No |
ClinGen TOPMed |
|
|
CA3598621 rs200863515 |
469 | V>F | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs200863515 CA3598620 |
469 | V>I | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1216727865 CA362462134 |
470 | V>L | No |
ClinGen TOPMed |
|
|
rs1251891791 CA362462150 CA362462146 |
471 | G>R | No |
TOPMed gnomAD ClinGen |
|
|
rs1251891791 CA362462144 |
471 | G>W | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 473 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362462225 rs1439762260 |
473 | M>V | No |
gnomAD ClinGen |
|
| TCGA novel | 480 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 480 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 480 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3598625 rs772471618 |
481 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447603878 CA362463376 |
484 | W>C | No |
gnomAD ClinGen |
|
|
rs1581897606 CA362463395 |
485 | V>G | No |
Ensembl ClinGen |
|
|
CA3598628 rs374190394 |
485 | V>I | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA362463387 rs374190394 |
485 | V>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1333848216 CA362463422 |
487 | Y>C | No |
TOPMed gnomAD ClinGen |
|
|
CA362463444 rs1265768030 |
488 | I>V | No |
ClinGen gnomAD |
|
|
CA133114734 rs1045386501 |
495 | V>A | No |
TOPMed ClinGen |
|
| TCGA novel | 495 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765315948 CA362463767 |
498 | V>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3598632 rs765315948 |
498 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 499 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362463805 rs1179911015 |
500 | L>F | No |
ClinGen gnomAD |
|
|
rs1253316991 CA362463807 |
500 | L>P | No |
gnomAD ClinGen |
|
|
rs1181681807 CA362463857 |
503 | C>R | No |
ClinGen gnomAD |
|
|
CA3598633 rs750641770 |
503 | C>Y | No |
ExAC gnomAD ClinGen |
|
|
rs758190011 CA3598634 |
504 | S>C | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 507 | K>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA133115047 rs992257090 COSM1066684 |
508 | Q>H | endometrium [Cosmic] | No |
TOPMed gnomAD ClinGen cosmic curated |
|
CA3598657 rs773343126 |
509 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3598659 rs367668742 |
510 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367668742 CA3598658 |
510 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362464251 rs1286008358 |
511 | G>D | No |
TOPMed ClinGen |
|
|
CA3598660 rs751313954 |
512 | M>I | No |
ExAC gnomAD ClinGen |
|
|
CA362464272 rs1241484135 |
512 | M>T | No |
TOPMed ClinGen |
|
|
rs754912290 CA3598661 |
513 | E>D | No |
ExAC gnomAD ClinGen |
|
|
rs1356395183 CA362464333 |
516 | K>* | No |
ClinGen TOPMed |
|
|
rs1282791849 CA362464401 |
520 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 520 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3598663 rs371798319 |
522 | P>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs559928822 CA3598665 |
524 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748945692 CA362464531 |
525 | K>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA362464557 rs1188578368 |
527 | E>K | No |
TOPMed gnomAD ClinGen |
|
|
rs1176825225 CA362464635 |
530 | E>G | No |
gnomAD ClinGen |
|
|
rs756889602 CA3598669 |
531 | K>M | No |
ExAC gnomAD ClinGen |
|
|
rs747313211 CA3598671 |
537 | K>R | No |
ClinGen ExAC TOPMed |
|
|
rs75423033 CA3598673 |
540 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs75423033 CA133115083 |
540 | E>V | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3598674 rs777341153 |
542 | E>Q | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 543 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776143295 CA133115088 |
544 | G>E | No |
Ensembl ClinGen |
|
|
rs1286758264 CA362464918 |
545 | E>K | No |
ClinGen gnomAD |
|
|
rs146720093 CA3598676 |
546 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA3598675 rs143348712 |
546 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1562517599 CA362464927 |
546 | E>Q | No |
ClinGen Ensembl |
|
|
CA3598677 rs773293232 |
548 | L>F | No |
ExAC gnomAD ClinGen |
|
|
CA362464942 rs1232802393 |
548 | L>R | No |
ClinGen gnomAD |
|
|
CA133115804 rs1022633432 |
549 | E>V | No |
TOPMed gnomAD ClinGen |
|
|
CA133115811 rs111809764 |
551 | K>* | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3598701 rs111809764 |
551 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3598702 rs770986913 |
552 | Q>H | No |
ExAC gnomAD ClinGen |
|
|
CA362465899 rs1471097383 |
553 | K>R | No |
gnomAD ClinGen |
|
|
CA3598703 rs774623024 |
554 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs771905020 CA362466139 |
558 | E>D | No |
ExAC gnomAD ClinGen |
|
|
rs759725745 CA3598704 |
558 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1391758354 CA362466216 |
560 | G>D | No |
gnomAD ClinGen |
|
|
rs200395157 CA3598706 |
560 | G>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3598707 rs760563367 |
562 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1331388035 CA362466349 |
564 | S>I | No |
gnomAD ClinGen |
|
|
CA362466407 rs1400362809 |
566 | E>Q | No |
ClinGen TOPMed |
|
|
rs1474263495 CA362466435 |
567 | E>A | No |
TOPMed ClinGen |
|
|
CA133115832 rs1031643847 |
567 | E>K | No |
TOPMed gnomAD ClinGen |
|
|
CA362466463 rs1278285093 |
568 | E>K | No |
gnomAD ClinGen |
|
|
CA3598709 rs764030651 |
571 | K>R | No |
ExAC gnomAD ClinGen |
|
|
CA362466645 rs1299836705 |
574 | A>T | No |
gnomAD ClinGen |
|
|
CA362467669 rs1485217155 |
576 | E>D | No |
gnomAD ClinGen |
|
|
rs1193544423 CA362467671 |
577 | D>N | No |
ClinGen gnomAD |
|
|
CA362467773 rs1243418716 |
582 | R>I | No |
ClinGen gnomAD |
|
|
CA362467777 rs761816122 |
582 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs928704900 CA133116618 |
583 | S>* | No |
ClinGen Ensembl |
|
|
rs772663643 CA133116622 |
584 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 585 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362467829 rs1390131983 |
587 | R>G | No |
ClinGen gnomAD |
|
|
rs1176053647 CA362467858 |
589 | P>T | No |
gnomAD ClinGen |
|
|
CA362467870 rs1374085607 |
590 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1414545674 CA362467873 |
590 | R>Q | No |
gnomAD ClinGen |
|
|
CA133116629 rs972796544 |
593 | E>S | No |
ClinGen Ensembl |
No associated diseases with P27824
14 regional properties for P27824
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | HAT (Half-A-TPR) repeat | 56 - 88 | IPR003107-1 |
| repeat | HAT (Half-A-TPR) repeat | 90 - 122 | IPR003107-2 |
| repeat | HAT (Half-A-TPR) repeat | 124 - 156 | IPR003107-3 |
| repeat | HAT (Half-A-TPR) repeat | 158 - 189 | IPR003107-4 |
| repeat | HAT (Half-A-TPR) repeat | 191 - 222 | IPR003107-5 |
| repeat | HAT (Half-A-TPR) repeat | 224 - 259 | IPR003107-6 |
| repeat | HAT (Half-A-TPR) repeat | 261 - 295 | IPR003107-7 |
| repeat | HAT (Half-A-TPR) repeat | 339 - 373 | IPR003107-8 |
| repeat | HAT (Half-A-TPR) repeat | 383 - 419 | IPR003107-9 |
| repeat | HAT (Half-A-TPR) repeat | 421 - 452 | IPR003107-10 |
| repeat | HAT (Half-A-TPR) repeat | 454 - 486 | IPR003107-11 |
| repeat | HAT (Half-A-TPR) repeat | 488 - 522 | IPR003107-12 |
| repeat | HAT (Half-A-TPR) repeat | 524 - 555 | IPR003107-13 |
| repeat | HAT (Half-A-TPR) repeat | 567 - 605 | IPR003107-14 |
Functions
20 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| dendrite cytoplasm | All of the contents of a dendrite, excluding the surrounding plasma membrane. |
| dendritic spine | A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity. |
| 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. |
| endoplasmic reticulum quality control compartment | A subcompartment of the endoplasmic reticulum in which proteins with improper or incorrect folding accumulate. Enzymes in this compartment direct proteins with major folding problems to translocation to the cytosol and degradation, and proteins with minor folding problems to the ER, to interact with chaperon proteins. |
| 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. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| integral component of lumenal side of endoplasmic reticulum membrane | The component of the endoplasmic reticulum membrane consisting of the gene products that penetrate only the lumenal side of the membrane. |
| integral component of postsynaptic membrane | The component of the postsynaptic 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. |
| integral component of presynaptic active zone membrane | The component of the presynaptic active zone 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. |
| melanosome | A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| mitochondria-associated endoplasmic reticulum membrane | A zone of apposition between endoplasmic-reticulum and mitochondrial membranes, structured by bridging complexes. These contact sites are thought to facilitate inter-organelle calcium and phospholipid exchange. |
| neuronal cell body | The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| ribosome | An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins. |
| rough endoplasmic reticulum | The rough (or granular) endoplasmic reticulum (ER) has ribosomes adhering to the outer surface; the ribosomes are the site of translation of the mRNA for those proteins which are either to be retained within the cisternae (ER-resident proteins), the proteins of the lysosomes, or the proteins destined for export from the cell. Glycoproteins undergo their initial glycosylation within the cisternae. |
| smooth endoplasmic reticulum | The smooth endoplasmic reticulum (smooth ER or SER) has no ribosomes attached to it. The smooth ER is the recipient of the proteins synthesized in the rough ER. Those proteins to be exported are passed to the Golgi complex, the resident proteins are returned to the rough ER and the lysosomal proteins after phosphorylation of their mannose residues are passed to the lysosomes. Glycosylation of the glycoproteins also continues. The smooth ER is the site of synthesis of lipids, including the phospholipids. The membranes of the smooth ER also contain enzymes that catalyze a series of reactions to detoxify both lipid-soluble drugs and harmful products of metabolism. Large quantities of certain compounds such as phenobarbital cause an increase in the amount of the smooth ER. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| apolipoprotein binding | Binding to an apolipoprotein, the protein component of a lipoprotein complex. |
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| carbohydrate binding | Binding to a carbohydrate, which includes monosaccharides, oligosaccharides and polysaccharides as well as substances derived from monosaccharides by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom. Cyclitols are generally not regarded as carbohydrates. |
| ionotropic glutamate receptor binding | Binding to an ionotropic glutamate receptor. Ionotropic glutamate receptors bind glutamate and exert an effect through the regulation of ion channels. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| unfolded protein binding | Binding to an unfolded protein. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| aging | A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700). |
| clathrin-dependent endocytosis | An endocytosis process that begins when material is taken up into clathrin-coated pits, which then pinch off to form clathrin-coated endocytic vesicles. |
| 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 secretion | The controlled release of proteins from a cell. |
| synaptic vesicle endocytosis | A vesicle-mediated transport process, in which the synaptic vesicle membrane constituents are retrieved from the presynaptic membrane on the axon terminal after neurotransmitter secretion by exocytosis. Synaptic vesicle endocytosis can occur via clathrin-dependent and clathrin-independent mechanisms. |
| ubiquitin-dependent ERAD pathway | The series of steps necessary to target endoplasmic reticulum (ER)-resident proteins for degradation by the cytoplasmic proteasome. Begins with recognition of the ER-resident protein, includes retrotranslocation (dislocation) of the protein from the ER to the cytosol, protein ubiquitination necessary for correct substrate transfer, transport of the protein to the proteasome, and ends with degradation of the protein by the cytoplasmic proteasome. |
| viral protein processing | Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a viral protein. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEGKWLLCML | LVLGTAIVEA | HDGHDDDVID | IEDDLDDVIE | EVEDSKPDTT | APPSSPKVTY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KAPVPTGEVY | FADSFDRGTL | SGWILSKAKK | DDTDDEIAKY | DGKWEVEEMK | ESKLPGDKGL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VLMSRAKHHA | ISAKLNKPFL | FDTKPLIVQY | EVNFQNGIEC | GGAYVKLLSK | TPELNLDQFH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DKTPYTIMFG | PDKCGEDYKL | HFIFRHKNPK | TGIYEEKHAK | RPDADLKTYF | TDKKTHLYTL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ILNPDNSFEI | LVDQSVVNSG | NLLNDMTPPV | NPSREIEDPE | DRKPEDWDER | PKIPDPEAVK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PDDWDEDAPA | KIPDEEATKP | EGWLDDEPEY | VPDPDAEKPE | DWDEDMDGEW | EAPQIANPRC |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ESAPGCGVWQ | RPVIDNPNYK | GKWKPPMIDN | PSYQGIWKPR | KIPNPDFFED | LEPFRMTPFS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| AIGLELWSMT | SDIFFDNFII | CADRRIVDDW | ANDGWGLKKA | ADGAAEPGVV | GQMIEAAEER |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PWLWVVYILT | VALPVFLVIL | FCCSGKKQTS | GMEYKKTDAP | QPDVKEEEEE | KEEEKDKGDE |
| 550 | 560 | 570 | 580 | 590 | |
| EEEGEEKLEE | KQKSDAEEDG | GTVSQEEEDR | KPKAEEDEIL | NRSPRNRKPR | RE |