Q99442
Gene name |
SEC62 (TLOC1) |
Protein name |
Translocation protein SEC62 |
Names |
Translocation protein 1, TP-1, hTP-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7095 |
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
2 structures for Q99442
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7BRT | X-ray | 200 A | A/B | 361-376 | PDB |
| AF-Q99442-F1 | Predicted | AlphaFoldDB |
233 variants for Q99442
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA355090267 rs1339101671 |
2 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1339101671 CA355090269 |
2 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1412787003 CA355090299 |
5 | R>G | No |
ClinGen gnomAD |
|
|
rs1336138309 CA355090303 |
5 | R>K | No |
ClinGen gnomAD |
|
|
CA2699057 rs762236006 |
7 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1228831361 CA355090335 |
7 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA355090328 rs762236006 |
7 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs770118827 CA2699059 |
9 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355090361 rs1343459504 |
9 | K>R | No |
ClinGen gnomAD |
|
|
CA355090375 rs1423735649 |
10 | R>L | No |
ClinGen TOPMed |
|
|
rs1261966351 CA355090371 |
10 | R>W | No |
ClinGen gnomAD |
|
|
rs138379777 CA2699060 |
11 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355090380 rs1461540335 |
11 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA355090394 rs1576852751 |
12 | Q>* | No |
ClinGen Ensembl |
|
|
rs1260510087 CA355090400 |
12 | Q>R | No |
ClinGen TOPMed |
|
|
CA355074048 rs1559964547 |
24 | V>M | No |
ClinGen Ensembl |
|
|
CA2699081 rs774349665 |
28 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1406881255 CA355074168 |
29 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1245020010 CA355074186 |
30 | F>L | No |
ClinGen gnomAD |
|
|
rs759646862 CA2699083 |
31 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA2699082 rs759646862 |
31 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA2699084 rs78992980 |
31 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2699085 rs761682982 |
32 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs186147407 CA87602198 |
34 | T>A | No |
ClinGen 1000Genomes gnomAD |
|
|
rs186147407 CA355074308 |
34 | T>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs867322447 CA87602201 |
37 | T>A | No |
ClinGen Ensembl |
|
|
CA2699086 rs765071900 |
37 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355074386 rs1179196846 |
38 | N>H | No |
ClinGen gnomAD |
|
|
rs750254201 CA2699087 |
39 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 41 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758054837 CA2699088 |
43 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1184669999 CA355074555 |
43 | R>Q | No |
ClinGen gnomAD |
|
|
rs1270083046 CA355075818 |
53 | V>M | No |
ClinGen gnomAD |
|
|
rs1424860200 CA355076020 |
58 | D>G | No |
ClinGen TOPMed |
|
|
CA2699110 rs767004839 |
58 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1191653497 CA355076081 |
60 | K>N | No |
ClinGen TOPMed |
|
|
rs752162637 CA2699111 |
60 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA355076122 rs1477927087 |
62 | A>S | No |
ClinGen gnomAD |
|
|
rs756548326 CA2699112 |
66 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1445464288 CA355076258 COSM1287808 |
67 | G>R | Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1215600677 CA355076507 |
78 | V>A | No |
ClinGen gnomAD |
|
|
CA2699113 rs778250141 |
81 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs765461271 CA87604653 |
85 | L>F | No |
ClinGen Ensembl |
|
|
rs758444719 CA87604662 |
89 | Q>H | No |
ClinGen Ensembl |
|
|
rs752886088 CA87604657 |
89 | Q>K | No |
ClinGen Ensembl |
|
|
rs1285444016 COSM4153017 CA355077660 |
90 | F>L | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 92 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs180699945 CA2699138 |
93 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA355077687 rs1325620228 |
93 | R>Q | No |
ClinGen gnomAD |
|
|
CA2699139 rs143177437 |
94 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2699142 rs781454297 |
97 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355077708 rs781454297 |
97 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355077727 rs1360866978 |
99 | K>R | No |
ClinGen gnomAD |
|
|
rs774131957 CA2699145 |
101 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs770791327 CA2699144 |
101 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1180435962 CA355077754 |
103 | D>H | No |
ClinGen gnomAD |
|
|
CA2699146 rs759249292 |
105 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs771963028 CA2699147 |
108 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA355077856 rs1576860898 |
109 | E>D | No |
ClinGen Ensembl |
|
|
CA2699148 rs202090306 |
109 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA355077898 CA355077900 rs142871056 |
111 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372456767 CA355077890 |
111 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372456767 CA2699149 |
111 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2699153 rs753355540 |
115 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366121023 CA355077978 |
115 | A>T | No |
ClinGen TOPMed |
|
|
CA355078038 rs1409508619 |
117 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2699155 rs572291779 |
118 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2699157 rs750994854 |
119 | K>E | No |
ClinGen ExAC |
|
|
rs1314812960 CA355078136 |
120 | E>A | No |
ClinGen gnomAD |
|
|
rs867639779 CA87604841 |
120 | E>K | No |
ClinGen gnomAD |
|
|
rs1314812960 CA355078141 |
120 | E>V | No |
ClinGen gnomAD |
|
|
rs866257367 CA87604843 |
121 | E>K | No |
ClinGen Ensembl |
|
|
CA355078200 rs1268980861 |
122 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 122 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866931174 CA87604844 |
122 | D>N | No |
ClinGen gnomAD |
|
|
CA355078186 rs866931174 |
122 | D>Y | No |
ClinGen gnomAD |
|
|
CA355078246 rs1219836827 |
124 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs758670384 CA2699159 |
124 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA355078300 rs1258128779 |
125 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1194799698 CA355078291 |
125 | S>T | No |
ClinGen gnomAD |
|
|
CA355078329 rs1201310223 COSM1041021 |
126 | K>N | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs200340300 CA2699160 |
126 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766058747 CA2699161 |
127 | K>T | No |
ClinGen ExAC |
|
|
rs751792463 CA2699162 |
128 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs751792463 CA355078374 |
128 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA355078434 rs1189336104 |
129 | N>I | No |
ClinGen gnomAD |
|
|
rs897727271 CA87604880 |
129 | N>Y | No |
ClinGen gnomAD |
|
|
rs1271713146 CA355078478 |
130 | I>T | No |
ClinGen TOPMed |
|
|
CA2699164 rs201421974 |
130 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355078574 rs1168630236 |
132 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 133 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355078629 rs1468436130 |
135 | T>A | No |
ClinGen gnomAD |
|
|
rs1336277507 CA355078648 |
135 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1336277507 CA355078635 |
135 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA355078695 rs1398196327 |
138 | E>K | No |
ClinGen gnomAD |
|
|
CA355078767 rs1316675410 |
140 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 142 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs751191303 | 144 | D>M | Variant assessed as Somatic; 5.529e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355078917 rs1437324205 |
144 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 153 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777938101 CA2699188 |
154 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1036600710 CA87605134 |
155 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA355079390 rs1559966324 |
155 | T>P | No |
ClinGen Ensembl |
|
|
CA355079406 rs1349632594 |
156 | P>A | No |
ClinGen gnomAD |
|
|
rs1364914167 CA355079421 |
157 | G>A | No |
ClinGen TOPMed |
|
|
rs745741130 CA2699189 |
159 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA355079442 rs1184541026 |
159 | P>S | No |
ClinGen TOPMed |
|
|
rs758366354 CA2699190 |
164 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779753003 CA2699191 |
166 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2699192 rs746802900 |
170 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA355079665 rs1435131949 |
172 | P>T | No |
ClinGen gnomAD |
|
|
CA2699193 rs150642223 |
177 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2699194 rs368648934 |
180 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355079798 rs1160789880 |
181 | G>R | No |
ClinGen gnomAD |
|
|
rs760738195 CA2699221 |
186 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1241718311 CA355080749 |
189 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754066230 CA2699223 |
194 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1182785818 CA355080885 |
196 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1416644255 CA355080903 |
197 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 201 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761859410 CA355081033 |
203 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2699224 rs761859410 |
203 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355081082 rs1252787715 |
205 | I>V | No |
ClinGen TOPMed |
|
|
CA355081089 rs1401973005 |
206 | A>T | No |
ClinGen gnomAD |
|
|
CA355081103 rs1347204556 |
208 | I>T | No |
ClinGen TOPMed |
|
|
CA355081101 rs1398039986 |
208 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA355081111 rs1367183145 |
209 | A>V | No |
ClinGen gnomAD |
|
|
CA2699245 rs759402629 |
211 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA355081122 rs759402629 |
211 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA355081167 rs1287413431 |
218 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1242667346 CA355081180 |
220 | M>V | No |
ClinGen gnomAD |
|
|
rs1576863932 CA355081200 |
222 | V>G | No |
ClinGen Ensembl |
|
|
CA355081207 rs1559967484 |
224 | V>I | No |
ClinGen Ensembl |
|
|
rs755919368 CA2699248 |
225 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs1576863944 CA355081223 |
226 | Y>S | No |
ClinGen Ensembl |
|
|
rs1427036197 CA355081251 |
230 | G>D | No |
ClinGen gnomAD |
|
|
rs753504229 CA2699250 |
233 | C>F | No |
ClinGen ExAC |
|
|
CA355081272 rs1157798739 |
233 | C>W | No |
ClinGen gnomAD |
|
|
CA2699251 rs756980184 |
234 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200028953 CA2699252 |
235 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2699254 rs758036420 |
236 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780586958 CA2699255 |
237 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1276877406 CA355081301 |
238 | I>T | No |
ClinGen gnomAD |
|
|
rs747510631 CA2699256 |
239 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1310430988 CA355081323 |
242 | A>S | No |
ClinGen gnomAD |
|
|
CA2699257 rs769022898 |
243 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA87607978 rs1036740894 |
244 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA355082185 rs1228467346 |
245 | R>Q | No |
ClinGen gnomAD |
|
|
rs1200327109 CA355082192 |
246 | C>R | No |
ClinGen TOPMed |
|
|
rs747499714 CA2699273 |
247 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs755455194 CA2699274 |
248 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA355082315 rs1458961019 |
251 | I>M | No |
ClinGen gnomAD |
|
|
CA2699275 rs781470019 |
253 | W>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 255 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1473077496 CA355082452 |
260 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1480292182 CA355082564 |
267 | N>S | No |
ClinGen TOPMed |
|
|
CA355082596 rs1417384859 |
270 | A>T | No |
ClinGen gnomAD |
|
|
rs1402700487 CA355082669 |
274 | F>L | No |
ClinGen gnomAD |
|
|
CA87609913 rs1057428695 |
275 | I>T | No |
ClinGen TOPMed |
|
|
rs1282256469 CA355082782 |
281 | L>V | No |
ClinGen TOPMed |
|
|
rs911576357 CA87609944 |
283 | T>S | No |
ClinGen Ensembl |
|
|
rs771004739 CA2699280 |
284 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1450743038 CA355082829 |
285 | E>K | No |
ClinGen gnomAD |
|
|
CA355082876 rs1217456328 |
288 | G>E | No |
ClinGen gnomAD |
|
|
rs1315471381 CA355082873 |
288 | G>R | No |
ClinGen gnomAD |
|
|
CA355082897 rs1319550141 |
290 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1198576439 CA355082932 |
292 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA355082972 rs768471417 CA2699283 |
294 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776763843 CA2699284 |
296 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776763843 CA87609961 |
296 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2699285 rs761675139 |
298 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs946545429 CA87609962 |
302 | K>R | No |
ClinGen Ensembl |
|
|
CA355083140 rs1426134545 |
306 | K>T | No |
ClinGen gnomAD |
|
|
rs762533262 CA2699289 |
308 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2699290 rs765856488 |
309 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765856488 CA355083171 |
309 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751037370 CA2699291 |
311 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1316899031 CA355083206 |
312 | K>E | No |
ClinGen gnomAD |
|
|
CA87610004 rs999461917 |
313 | S>T | No |
ClinGen Ensembl |
|
|
CA87610008 rs1056843778 |
315 | S>C | No |
ClinGen gnomAD |
|
|
rs1056843778 CA355083240 |
315 | S>G | No |
ClinGen gnomAD |
|
|
rs1398919036 CA355083244 |
315 | S>N | No |
ClinGen gnomAD |
|
|
CA355083249 COSM582656 rs1177450218 |
315 | S>R | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs754584323 CA2699292 |
319 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA2699295 CA2699296 rs34352823 |
321 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2699294 rs781656299 |
321 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355083344 rs1283847389 |
323 | G>R | No |
ClinGen gnomAD |
|
|
CA355083374 rs1399561174 |
325 | V>A | No |
ClinGen gnomAD |
|
|
CA2699298 rs749481489 |
327 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA355083469 rs1157224042 |
334 | G>S | No |
ClinGen gnomAD |
|
|
CA2699301 rs779259601 |
335 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2699300 rs779259601 |
335 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769662010 CA2699306 |
336 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA2699305 rs769662010 |
336 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA87610050 CA355083489 rs377711845 |
336 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2699304 rs377711845 |
336 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2699308 rs765944822 |
339 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762601555 CA2699307 |
339 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA355083589 rs1352920986 |
345 | S>N | No |
ClinGen gnomAD |
|
|
rs1352920986 CA355083591 |
345 | S>T | No |
ClinGen gnomAD |
|
|
rs201905627 CA2699311 |
347 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753166992 CA2699312 |
349 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA355083682 rs141360935 |
352 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2699313 rs141360935 |
352 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146483233 COSM1041026 CA2699314 |
352 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1268396120 CA355083725 |
355 | H>Q | No |
ClinGen gnomAD |
|
|
rs1018282934 CA87610098 |
357 | S>N | No |
ClinGen TOPMed |
|
|
CA355083854 rs1248036268 |
366 | I>V | No |
ClinGen Ensembl |
|
|
CA355083866 rs1158142648 |
367 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2699317 rs778976281 |
368 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2699318 rs746138382 |
376 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1455969248 CA355083994 |
377 | G>E | No |
ClinGen gnomAD |
|
|
CA2699321 rs748038777 |
379 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 381 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1388095402 CA355084047 |
381 | E>D | No |
ClinGen gnomAD |
|
|
CA2699322 rs769857452 |
382 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA87610117 rs995653710 |
384 | E>K | No |
ClinGen Ensembl |
|
|
rs1025849299 CA87610129 |
385 | E>D | No |
ClinGen Ensembl |
|
|
CA2699324 rs749025420 |
385 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs770810328 CA2699325 |
387 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs773848101 CA2699326 |
387 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244224978 CA355084113 |
388 | D>G | No |
ClinGen gnomAD |
|
|
rs1027638351 CA87610145 |
390 | E>K | No |
ClinGen TOPMed |
|
|
CA2699328 rs766969275 |
391 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA87610148 rs951689927 |
392 | P>S | No |
ClinGen TOPMed |
|
|
rs141059280 CA2699330 |
393 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1281707029 CA355084151 |
394 | S>F | No |
ClinGen TOPMed |
|
|
CA2699333 rs143053763 |
396 | H>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs180829030 CA2699334 |
396 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2699332 rs143053763 |
396 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2699331 rs764568264 |
396 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355084163 rs1163480637 |
397 | E>K | No |
ClinGen gnomAD |
|
|
rs758933075 CA2699335 |
397 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q99442
No regional properties for Q99442
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q99442 | |||
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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). |
| integral component of endoplasmic reticulum membrane | The component of the endoplasmic reticulum 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 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| signaling receptor activity | Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cotranslational protein targeting to membrane | The targeting of proteins to a membrane that occurs during translation. The transport of most secretory proteins, particularly those with more than 100 amino acids, into the endoplasmic reticulum lumen occurs in this manner, as does the import of some proteins into mitochondria. |
| post-translational protein targeting to endoplasmic reticulum membrane | The targeting of proteins to a membrane that occurs after their translation. Some secretory proteins exhibit posttranslational transport into the endoplasmic reticulum (ER) lumen: they are synthesized in their entirety on free cytosolic ribosomes and then released into the cytosol, where they are bound by chaperones which keep them in an unfolded state, and subsequently are translocated across the ER membrane. |
| post-translational protein targeting to membrane, translocation | The process in which a protein translocates through the ER membrane posttranslationally. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAERRRHKKR | IQEVGEPSKE | EKAVAKYLRF | NCPTKSTNMM | GHRVDYFIAS | KAVDCLLDSK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| WAKAKKGEEA | LFTTRESVVD | YCNRLLKKQF | FHRALKVMKM | KYDKDIKKEK | DKGKAESGKE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EDKKSKKENI | KDEKTKKEKE | KKKDGEKEES | KKEETPGTPK | KKETKKKFKL | EPHDDQVFLD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GNEVYVWIYD | PVHFKTFVMG | LILVIAVIAA | TLFPLWPAEM | RVGVYYLSVG | AGCFVASILL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LAVARCILFL | IIWLITGGRH | HFWFLPNLTA | DVGFIDSFRP | LYTHEYKGPK | ADLKKDEKSE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TKKQQKSDSE | EKSDSEKKED | EEGKVGPGNH | GTEGSGGERH | SDTDSDRRED | DRSQHSSGNG |
| 370 | 380 | 390 | |||
| NDFEMITKEE | LEQQTDGDCE | EDEEEENDGE | TPKSSHEKS |