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

23 structures for P04035

Entry ID Method Resolution Chain Position Source
1DQ8 X-ray 210 A A/B/C/D 426-888 PDB
1DQ9 X-ray 280 A A/B/C/D 426-888 PDB
1DQA X-ray 200 A A/B/C/D 426-888 PDB
1HW8 X-ray 210 A A/B/C/D 426-888 PDB
1HW9 X-ray 233 A A/B/C/D 426-888 PDB
1HWI X-ray 230 A A/B/C/D 426-888 PDB
1HWJ X-ray 226 A A/B/C/D 426-888 PDB
1HWK X-ray 222 A A/B/C/D 426-888 PDB
1HWL X-ray 210 A A/B/C/D 426-888 PDB
2Q1L X-ray 205 A A/B/C/D 441-875 PDB
2Q6B X-ray 200 A A/B/C/D 441-875 PDB
2Q6C X-ray 200 A A/B/C/D 441-875 PDB
2R4F X-ray 170 A A/B/C/D 441-875 PDB
3BGL X-ray 223 A A/B/C/D 441-875 PDB
3CCT X-ray 212 A A/B/C/D 441-875 PDB
3CCW X-ray 210 A A/B/C/D 441-875 PDB
3CCZ X-ray 170 A A/B/C/D 441-875 PDB
3CD0 X-ray 240 A A/B/C/D 441-875 PDB
3CD5 X-ray 239 A A/B/C/D 441-875 PDB
3CD7 X-ray 205 A A/B/C/D 441-875 PDB
3CDA X-ray 207 A A/B/C/D 441-875 PDB
3CDB X-ray 230 A A/B/C/D 441-875 PDB
AF-P04035-F1 Predicted AlphaFoldDB

433 variants for P04035

Variant ID(s) Position Change Description Diseaes Association Provenance
rs751171582
CA360299141
7 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA360299139
rs751171582
7 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs751171582
CA3308353
7 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1051046202
CA120881531
8 M>T No ClinGen
Ensembl
rs1267761914
CA360299147
8 M>V No ClinGen
gnomAD
rs1399840363
CA360299169
9 H>R No ClinGen
gnomAD
TCGA novel 10 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3308354
rs763611929
14 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA360299236
rs763611929
14 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA360299260
rs1201009521
16 H>P No ClinGen
gnomAD
rs1416769598
CA360299275
17 P>A No ClinGen
gnomAD
rs780893840
CA3308355
20 V>F No ClinGen
ExAC
gnomAD
CA3308356
rs745371345
21 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1273881990
CA360299372
22 V>A No ClinGen
TOPMed
rs1218851648
CA360299399
25 V>M No ClinGen
TOPMed
rs367706109
CA3308359
27 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA360299463
rs1561194850
30 C>G No ClinGen
Ensembl
CA3308360
rs769016687
31 M>V No ClinGen
ExAC
gnomAD
rs371769368
CA3308361
32 M>T No ClinGen
ESP
ExAC
gnomAD
CA120881608
rs1009595037
35 N>S No ClinGen
Ensembl
CA3308362
rs201541062
36 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA360299615
rs1381654025
40 N>S No ClinGen
TOPMed
gnomAD
CA3308363
rs772179314
41 N>S No ClinGen
ExAC
gnomAD
rs773624826
CA3308364
43 I>V No ClinGen
ExAC
gnomAD
TCGA novel 47 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs369987181
CA3308367
50 C>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA360299772
rs369987181
50 C>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3308368
rs764673047
53 F>S No ClinGen
ExAC
TOPMed
gnomAD
CA3308397
rs765808919
56 D>E No ClinGen
ExAC
gnomAD
CA360300021
rs1232088692
59 S>G No ClinGen
gnomAD
rs1178012749
CA360300072
62 I>V No ClinGen
gnomAD
TCGA novel 64 I>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1479509540
CA360300133
COSM3393666
67 I>V pancreas [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1580655061
CA360300157
69 R>* No ClinGen
Ensembl
CA360300158
rs1430662318
69 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1487837370
CA360300170
70 C>F No ClinGen
gnomAD
TCGA novel 70 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1320230215
CA360300182
71 I>V No ClinGen
Ensembl
CA3308398
rs753282492
73 I>V No ClinGen
ExAC
gnomAD
CA360300377
rs1354325261
84 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs372565038
CA3308399
COSM3429632
84 R>H large_intestine Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3308421
rs758983271
97 L>H No ClinGen
ExAC
gnomAD
CA360300925
rs1222036418
109 V>G No ClinGen
gnomAD
CA360301013
rs1580655350
114 L>V No ClinGen
Ensembl
CA3308423
rs751963403
115 D>N No ClinGen
ExAC
gnomAD
rs1335822230
CA360301109
118 L>W No ClinGen
gnomAD
rs781242828
CA3308425
119 T>S No ClinGen
ExAC
gnomAD
rs1327209409
CA360302334
126 P>S No ClinGen
TOPMed
CA360302377
rs1458297649
128 F>L No ClinGen
gnomAD
rs1334645817
CA360302446
131 L>V No ClinGen
gnomAD
rs538995429
CA360302486
133 D>H No ClinGen
gnomAD
CA120883929
rs538995429
133 D>N No ClinGen
gnomAD
CA3308445
rs781639869
136 R>K No ClinGen
ExAC
gnomAD
rs750553430
CA3308446
137 A>G No ClinGen
ExAC
gnomAD
rs756363474
CA3308447
139 T>I No ClinGen
ExAC
gnomAD
CA3308448
rs780209976
142 K>T No ClinGen
ExAC
rs749358438
CA3308449
145 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA360302688
rs1261841370
146 S>R No ClinGen
gnomAD
CA120883957
rs112503211
147 S>P No ClinGen
Ensembl
CA360302906
rs1196744403
151 D>E No ClinGen
TOPMed
gnomAD
rs1483815731
CA360302894
151 D>N No ClinGen
gnomAD
CA3308462
rs774953568
155 E>K No ClinGen
ExAC
gnomAD
CA120885119
rs761181428
157 I>L No ClinGen
Ensembl
CA3308464
rs368129510
159 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3308465
rs139887868
159 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA360303063
rs1439339442
163 I>V No ClinGen
gnomAD
TCGA novel 164 L>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA360303104
rs1371472683
166 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1045190482
COSM1438564
CA120885147
167 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs754097995
CA3308468
171 D>N No ClinGen
ExAC
gnomAD
CA360303184
rs1273046862
172 A>V No ClinGen
TOPMed
CA120885190
rs776974055
173 L>F No ClinGen
Ensembl
CA3308469
rs755011121
173 L>H No ClinGen
ExAC
gnomAD
CA360303208
rs1164535656
175 E>* No ClinGen
gnomAD
CA120885234
rs528117857
176 C>R No ClinGen
gnomAD
rs778985768
CA3308470
178 V>L No ClinGen
ExAC
gnomAD
rs1219815518
CA360303313
181 V>A No ClinGen
gnomAD
rs757219169
CA3308472
182 G>S No ClinGen
ExAC
gnomAD
CA360303340
rs1488541764
183 T>N No ClinGen
gnomAD
rs1259637958
CA360303357
184 M>T No ClinGen
TOPMed
gnomAD
CA360117293
rs1321843698
188 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs552138456
CA120915359
188 R>H No ClinGen
TOPMed
gnomAD
CA360117370
rs1580660222
193 M>L No ClinGen
Ensembl
CA3308493
rs758462507
193 M>R No ClinGen
ExAC
gnomAD
rs200260317
CA120915379
202 L>V No ClinGen
gnomAD
rs750361584
CA3308495
204 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA3308496
rs148335635
204 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs140490718
CA3308498
206 F>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA360117597
rs768419319
206 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA360117620
rs1208512488
208 F>L No ClinGen
TOPMed
rs1314438103
CA360117637
209 M>L No ClinGen
TOPMed
rs778768497
CA3308500
214 A>G No ClinGen
ExAC
gnomAD
CA360117717
rs1237825871
215 C>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs147043821
CA3308501
218 L>F No ClinGen
1000Genomes
ExAC
gnomAD
CA360117773
rs937171936
CA120915396
219 V>L No ClinGen
gnomAD
TCGA novel 221 E>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3308511
rs373417164
224 R>L No ClinGen
ESP
ExAC
gnomAD
CA360117885
rs373417164
224 R>Q No ClinGen
ESP
ExAC
gnomAD
rs1051691944
CA120915498
225 E>D No ClinGen
TOPMed
gnomAD
rs750322057
CA3308512
226 S>N No ClinGen
ExAC
gnomAD
CA3308513
rs756129604
227 R>C No ClinGen
ExAC
gnomAD
TCGA novel 228 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1254056455
CA360117953
229 G>V No ClinGen
gnomAD
rs780208977
CA3308514
230 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA3308515
rs753673014
COSM3768864
230 R>H liver [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA360117966
rs753673014
230 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA120915532
rs1005567773
232 I>V No ClinGen
TOPMed
rs1200550176
CA360118017
233 W>C No ClinGen
TOPMed
gnomAD
rs778678847
CA3308517
233 W>S No ClinGen
ExAC
gnomAD
CA360118061
rs1168738941
CA360118062
236 S>R No ClinGen
TOPMed
gnomAD
rs763132410
CA120915539
236 S>T No ClinGen
Ensembl
CA3308518
rs747786153
240 R>P No ClinGen
ExAC
gnomAD
rs1287584125
CA360118139
241 V>G No ClinGen
TOPMed
CA360118177
rs1309410379
244 E>K No ClinGen
gnomAD
rs1369619869
CA360118294
247 N>K No ClinGen
gnomAD
CA120915573
rs879389443
247 N>S No ClinGen
gnomAD
CA3308524
rs777178244
COSM3828419
249 P>L Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA360118365
rs1397491532
251 P>H No ClinGen
TOPMed
rs770177852
CA3308526
251 P>T No ClinGen
ExAC
gnomAD
rs1379638521
CA360118413
254 Q>* No ClinGen
TOPMed
rs1206139538
COSM3828421
CA360118436
254 Q>H breast [Cosmic] No ClinGen
cosmic curated
gnomAD
TCGA novel 257 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA360118560
rs1276987292
259 I>F No ClinGen
gnomAD
CA360118739
rs1290662562
261 S>C No ClinGen
gnomAD
rs1174834522
CA360118815
265 V>A No ClinGen
TOPMed
CA3308544
rs781640240
265 V>I No ClinGen
ExAC
gnomAD
CA3308545
rs781640240
265 V>L No ClinGen
ExAC
gnomAD
CA3308546
rs770089730
267 V>F No ClinGen
ExAC
CA3308548
rs377514952
269 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1472261028
CA360118893
270 H>Y No ClinGen
gnomAD
CA120915882
rs1025150103
272 R>C No ClinGen
TOPMed
rs768747516
CA3308549
272 R>H No ClinGen
ExAC
gnomAD
CA360119022
rs1415352636
274 I>M No ClinGen
gnomAD
CA120915895
rs1051258640
275 A>S No ClinGen
Ensembl
CA360119070
rs1467674358
276 D>E No ClinGen
TOPMed
gnomAD
rs544999212
CA120915907
276 D>V No ClinGen
1000Genomes
COSM1642787
rs144780232
CA3308552
277 P>L stomach [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA3308551
rs774684544
277 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs1398934713
CA360119111
278 S>C No ClinGen
gnomAD
rs554100316 279 P>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA360119165
rs1334440584
280 Q>H No ClinGen
gnomAD
rs1014962118
CA120915926
281 N>K No ClinGen
TOPMed
gnomAD
rs767738315
CA3308554
282 S>G No ClinGen
ExAC
gnomAD
CA360119246
rs1284931549
283 T>I No ClinGen
gnomAD
CA3308556
rs759558565
286 T>I No ClinGen
ExAC
gnomAD
rs1268105693
CA360119332
287 S>A No ClinGen
gnomAD
CA3308557
rs139776831
288 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA360119381
rs1238114836
289 V>I No ClinGen
TOPMed
rs968339885
CA120915945
290 S>P No ClinGen
Ensembl
CA360119433
rs1211048424
291 L>I No ClinGen
gnomAD
CA3308558
rs752430097
293 L>V No ClinGen
ExAC
gnomAD
CA3308560
rs763628844
294 D>H No ClinGen
ExAC
gnomAD
CA120915993
rs1029103328
303 P>L No ClinGen
TOPMed
CA3308563
rs780697550
305 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs780697550
CA3308564
305 V>D No ClinGen
ExAC
TOPMed
gnomAD
rs1034058316
CA120916028
308 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA120916013
rs946025973
308 W>S No ClinGen
TOPMed
gnomAD
CA3308565
rs756578585
309 Q>P No ClinGen
ExAC
gnomAD
CA360119882
rs1396354367
310 F>I No ClinGen
gnomAD
rs191835914
CA3308567
311 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs191835914
CA3308566
311 Y>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs755250925
CA3308586
315 M>V No ClinGen
ExAC
gnomAD
rs577513968
CA120916167
316 I>M No ClinGen
Ensembl
rs1299874052
CA360120181
316 I>N No ClinGen
TOPMed
gnomAD
rs1181601971
CA360120242
318 M>I No ClinGen
TOPMed
gnomAD
TCGA novel
CA360120212
rs1580661332
318 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
Ensembl
rs779431841
CA3308587
320 I>T No ClinGen
ExAC
gnomAD
CA360120328
rs1234503403
322 Q>K No ClinGen
gnomAD
rs1258120929
CA360120360
323 V>I No ClinGen
gnomAD
CA3308589
rs772418448
324 I>T No ClinGen
ExAC
gnomAD
CA3308588
rs748312589
324 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1274862704
CA360120542
330 L>F No ClinGen
gnomAD
rs1483764038
CA360120556
331 L>F No ClinGen
gnomAD
rs1207529910
CA360120681
333 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1561200001
CA360120830
338 F>C No ClinGen
Ensembl
CA360120810
rs1200812097
338 F>I No ClinGen
gnomAD
TCGA novel 338 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3308591
rs559001934
342 T>A No ClinGen
1000Genomes
ExAC
gnomAD
CA3308592
rs370386875
343 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA360121035
rs1168235119
344 T>I No ClinGen
gnomAD
CA3308593
rs775249201
347 T>I No ClinGen
ExAC
gnomAD
CA360121323
rs1291850857
354 I>L No ClinGen
TOPMed
gnomAD
rs144482710
CA3308597
COSM450053
354 I>M Variant assessed as Somatic; 0.0001392 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs374534527
CA3308596
354 I>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3308598
rs774131030
355 T>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 356 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA360121439
rs1476406557
359 V>G No ClinGen
TOPMed
rs767134717
CA3308600
360 T>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 362 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs934071408
CA120916274
364 V>I No ClinGen
Ensembl
rs760064646
CA3308602
365 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs760064646
CA360121598
365 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA3308604
rs780343008
367 N>S Variant assessed as Somatic; 4.652e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
CA3308606
rs200102303
368 C>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1488490498
CA360121748
371 R>C No ClinGen
TOPMed
gnomAD
CA3308607
rs779630004
371 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA360121800
rs1561200130
374 M>V No ClinGen
Ensembl
CA3308608
rs753098010
377 R>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 380 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1172684208
CA360121974
382 C>W No ClinGen
TOPMed
CA360122022
rs1410434945
385 V>A No ClinGen
TOPMed
rs1188928731
CA360122079
388 E>G No ClinGen
gnomAD
CA360122066
rs1424435627
388 E>K No ClinGen
TOPMed
rs1391085687
CA360122098
389 T>R No ClinGen
TOPMed
gnomAD
CA120916295
rs953466803
392 N>T No ClinGen
TOPMed
CA360122158
rs371909330
393 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376488768
CA3308610
393 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA360122171
rs1256523877
394 E>Q No ClinGen
TOPMed
CA3308611
rs747283372
397 V>I No ClinGen
ExAC
gnomAD
rs1301923319
CA360122438
406 E>K No ClinGen
gnomAD
TCGA novel 409 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3308631
rs751667502
409 T>S No ClinGen
ExAC
gnomAD
TCGA novel 410 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3308632
rs757499420
410 P>R No ClinGen
ExAC
gnomAD
CA3308633
rs781331129
411 N>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs201862213
CA3308634
411 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1269895716
CA360122587
413 A>T No ClinGen
TOPMed
gnomAD
rs1310241139
CA360123383
414 T>I No ClinGen
gnomAD
CA3308636
rs778783315
415 F>Y No ClinGen
ExAC
gnomAD
rs1013975113
CA120916386
418 G>S No ClinGen
Ensembl
CA360123441
rs1483699305
418 G>V No ClinGen
gnomAD
rs1472268913
CA360123473
421 S>F No ClinGen
gnomAD
rs1183580711
CA360123477
422 L>S No ClinGen
TOPMed
gnomAD
CA360123481
rs1410742369
423 L>F No ClinGen
TOPMed
gnomAD
CA120916407
rs200965407
424 D>G No ClinGen
1000Genomes
rs146188615
CA3308639
424 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs146188615
CA3308640
424 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 426 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 428 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA360123532
rs1376043825
431 T>I No ClinGen
TOPMed
CA360123541
rs1580661906
433 E>K No ClinGen
Ensembl
CA3308643
rs776190879
434 P>A No ClinGen
ExAC
gnomAD
rs759085544
CA3308644
434 P>L No ClinGen
ExAC
gnomAD
TCGA novel 435 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs544507554
CA3308645
435 E>K No ClinGen
1000Genomes
ExAC
gnomAD
CA360123557
rs1365367233
435 E>V No ClinGen
gnomAD
rs1280869625
CA360123568
437 E>* No ClinGen
gnomAD
rs776090392
CA3308646
437 E>G No ClinGen
ExAC
gnomAD
rs776090392
CA360123571
437 E>V No ClinGen
ExAC
gnomAD
rs1024480102
CA120916435
440 R>G No ClinGen
gnomAD
rs1313677728
CA360123587
440 R>K No ClinGen
gnomAD
rs1213300878
CA360123600
442 P>T No ClinGen
gnomAD
rs982576013
CA120916456
443 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs951205085
CA120916454
443 R>W No ClinGen
Ensembl
rs1016757703
CA120916460
446 E>G No ClinGen
gnomAD
CA360123623
rs1580661972
COSM1329450
446 E>K ovary [Cosmic] No ClinGen
cosmic curated
Ensembl
TCGA novel 447 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3308649
rs373019218
453 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1166350554
CA360123684
454 N>K No ClinGen
gnomAD
CA360123682
rs1455823831
454 N>S No ClinGen
gnomAD
rs139058364
CA3308666
460 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA360123992
rs1365578921
465 A>V No ClinGen
gnomAD
CA3308668
rs774760918
472 N>D No ClinGen
ExAC
gnomAD
rs1227787204
CA360124047
473 A>G No ClinGen
TOPMed
gnomAD
rs767798571
CA3308670
477 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs750588723
CA3308671
478 A>D No ClinGen
ExAC
TOPMed
CA360124078
rs1207292158
478 A>S No ClinGen
TOPMed
gnomAD
CA3308673
rs766652276
479 Y>* No ClinGen
ExAC
gnomAD
rs1465577182
CA360124086
479 Y>C No ClinGen
gnomAD
rs753898770
CA3308674
480 K>N No ClinGen
ExAC
gnomAD
TCGA novel 482 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1297383354
CA360124120
484 L>P No ClinGen
gnomAD
CA360124163
rs1277575286
490 R>C No ClinGen
TOPMed
CA360124166
rs1476674144
490 R>H No ClinGen
Ensembl
rs755095283
CA3308675
491 G>D No ClinGen
ExAC
gnomAD
CA3308676
rs777730853
492 V>I No ClinGen
ExAC
gnomAD
rs751482798
CA360124177
493 S>A No ClinGen
ExAC
gnomAD
rs751482798
CA3308677
493 S>P No ClinGen
ExAC
gnomAD
rs757026862
CA3308678
495 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA360124196
COSM1209815
rs1438532336
496 R>Q large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA360124227
rs1383652871
499 L>P No ClinGen
gnomAD
rs1320586148
CA360124243
500 S>C No ClinGen
TOPMed
gnomAD
rs1320586148
CA360124245
500 S>F No ClinGen
TOPMed
gnomAD
TCGA novel 506 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 510 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768082953
CA3308684
515 R>T No ClinGen
ExAC
TOPMed
gnomAD
rs1227098072
COSM333190
CA360124603
520 S>F lung [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1357383246
CA360124596
520 S>P No ClinGen
gnomAD
rs747762857
CA3308703
525 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA120918642
rs914988309
526 C>S No ClinGen
TOPMed
gnomAD
CA360124804
rs1376869865
531 I>T No ClinGen
gnomAD
rs1478204770
CA360124819
532 G>E No ClinGen
gnomAD
CA360124867
rs1187682242
535 P>S No ClinGen
TOPMed
rs1174529981
CA360124931
539 G>R No ClinGen
gnomAD
CA3308705
rs773755045
543 P>A No ClinGen
ExAC
gnomAD
rs747339893
CA360125020
544 L>H No ClinGen
ExAC
gnomAD
CA3308706
rs747339893
544 L>P No ClinGen
ExAC
gnomAD
rs1580665186
CA360125070
546 L>F No ClinGen
Ensembl
rs1393646412
CA360125078
547 D>N No ClinGen
gnomAD
rs1249776714
CA360125241
555 M>V No ClinGen
TOPMed
CA3308708
rs776785264
557 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1330923036
CA360125328
562 L>P No ClinGen
gnomAD
TCGA novel 565 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 567 N>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 567 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1580665230
CA360125383
570 C>W No ClinGen
Ensembl
CA3308709
rs759690331
574 G>D No ClinGen
ExAC
gnomAD
rs199707836
CA120918835
582 R>* No ClinGen
1000Genomes
rs554601529
CA3308724
582 R>Q No ClinGen
ExAC
gnomAD
CA360125478
rs1177327232
584 L>F No ClinGen
TOPMed
gnomAD
CA360125501
rs1215403348
587 G>A No ClinGen
gnomAD
rs910624160
CA120918844
588 M>I No ClinGen
Ensembl
rs1245965565
CA360125519
590 R>H No ClinGen
gnomAD
rs1464223287
CA360125538
593 V>A No ClinGen
TOPMed
gnomAD
CA3308725
rs193026499
595 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1381726485
CA360125548
595 R>H No ClinGen
gnomAD
rs746309868
CA3308726
596 L>F No ClinGen
ExAC
gnomAD
CA3308727
rs769892997
597 P>A No ClinGen
ExAC
gnomAD
rs775823773
CA3308728
598 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1228694899
CA360125563
598 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1417859624
CA360125575
600 C>Y No ClinGen
gnomAD
CA120918865
rs1047128169
603 A>G No ClinGen
TOPMed
rs764291157
CA3308730
608 W>S No ClinGen
ExAC
gnomAD
CA360125639
rs1157760710
609 L>P No ClinGen
gnomAD
rs766494307
CA3308733
610 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA360125681
rs754848272
615 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA3308736
rs764763607
616 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA3308737
rs764763607
COSM1070105
616 A>T Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1480735729
CA360125699
619 K>Q No ClinGen
TOPMed
rs1311831907
CA360125786
628 F>L No ClinGen
gnomAD
CA3308752
rs762045069
630 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA3308753
rs375866343
630 R>H No ClinGen
ESP
ExAC
gnomAD
rs1198685590
CA360125828
631 L>P No ClinGen
TOPMed
gnomAD
rs896113185
CA360125834
632 Q>* No ClinGen
TOPMed
rs896113185
CA120919595
632 Q>K No ClinGen
TOPMed
rs759209951
CA3308755
632 Q>R No ClinGen
ExAC
gnomAD
CA360125854
rs1224198024
633 K>R No ClinGen
gnomAD
rs765098078
CA3308756
635 H>Y No ClinGen
ExAC
gnomAD
CA3308758
rs762597156
637 S>R No ClinGen
ExAC
gnomAD
rs539946792
CA120919615
638 I>T No ClinGen
Ensembl
rs5908
VAR_011954
CA3308759
638 I>V No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA120919617
rs1026466838
639 A>T No ClinGen
TOPMed
CA120919623
rs1022189398
641 R>C No ClinGen
gnomAD
CA120919624
rs369102555
643 L>V No ClinGen
ESP
CA360126021
rs1345725679
646 R>C No ClinGen
TOPMed
rs1307067018
CA360126046
648 Q>E No ClinGen
TOPMed
CA360126110
rs781513148
653 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA360126108
rs781513148
653 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs781513148
CA3308762
653 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA120919667
rs866589749
654 A>V No ClinGen
Ensembl
CA3308763
rs750964538
659 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs980728664
CA120919694
660 I>T No ClinGen
Ensembl
rs147818666
CA3308778
663 G>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA360126998
rs1409999841
663 G>R No ClinGen
gnomAD
rs1312499714
CA360127071
669 S>L No ClinGen
TOPMed
CA3308779
rs200606736
673 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA360127202
rs1402562693
679 Q>E No ClinGen
gnomAD
CA3308780
rs750830196
679 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA3308781
rs756643814
680 I>F No ClinGen
ExAC
gnomAD
rs551439059
CA3308784
COSM1070106
683 V>I endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA3308786
rs748402261
689 T>I No ClinGen
ExAC
gnomAD
CA360127396
rs1580668539
692 K>N No ClinGen
Ensembl
rs1470069403
CA360127440
696 I>V No ClinGen
gnomAD
rs1411619753
CA360127559
704 K>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA360127574
rs747124451
705 S>C No ClinGen
ExAC
gnomAD
CA3308789
rs747124451
705 S>Y No ClinGen
ExAC
gnomAD
TCGA novel 710 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs565279114
CA3308790
711 V>A No ClinGen
1000Genomes
ExAC
gnomAD
CA3308791
rs373896859
716 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1316546330
CA360127905
719 E>K No ClinGen
gnomAD
rs1219802002
CA360128097
720 V>A No ClinGen
gnomAD
CA3308809
rs757319136
720 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1414213066
CA360128245
726 E>Q No ClinGen
gnomAD
CA3308812
rs768373804
728 M>V No ClinGen
ExAC
gnomAD
rs1357902378
CA360128335
730 E>D No ClinGen
gnomAD
CA360128369
rs1561205544
733 I>V No ClinGen
Ensembl
rs774128813
CA3308813
736 N>S No ClinGen
ExAC
gnomAD
rs1351777438
CA360128450
738 V>A No ClinGen
gnomAD
rs772783149
CA3308816
743 A>T No ClinGen
ExAC
gnomAD
rs760121176
CA3308820
749 Y>C No ClinGen
ExAC
gnomAD
rs1471016934
CA360128628
752 H>R No ClinGen
gnomAD
TCGA novel 756 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA360128655
rs1171672440
756 I>T No ClinGen
TOPMed
CA120921612
rs1022726841
756 I>V No ClinGen
TOPMed
CA3308825
rs201093294
757 V>I No ClinGen
1000Genomes
ExAC
gnomAD
CA360128663
rs1580668952
758 T>P No ClinGen
Ensembl
rs1199407498
CA360128669
759 A>T No ClinGen
TOPMed
rs1457315659
CA360128674
759 A>V No ClinGen
TOPMed
CA360128675
rs1390180343
760 I>V No ClinGen
gnomAD
CA3308828
rs750568326
761 Y>C No ClinGen
ExAC
gnomAD
rs1336752860
CA360128689
762 I>L No ClinGen
gnomAD
rs1336752860
CA360128690
762 I>V No ClinGen
gnomAD
CA360128765
rs1196883888
766 Q>* No ClinGen
TOPMed
CA120921770
rs914153249
773 G>A No ClinGen
Ensembl
CA3308845
rs763336817
773 G>S No ClinGen
ExAC
gnomAD
CA360129170
rs1340237683
783 A>E No ClinGen
gnomAD
CA360129169
rs1324309717
783 A>S No ClinGen
gnomAD
TCGA novel 788 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1370645233
CA360129204
788 N>S No ClinGen
gnomAD
rs751738204
CA3308848
796 T>A No ClinGen
ExAC
CA360129266
rs1275707157
796 T>I No ClinGen
Ensembl
CA360129291
rs1580669140
800 I>T No ClinGen
Ensembl
rs754242135
CA3308849
800 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1226031610
CA360129408
809 T>N No ClinGen
gnomAD
CA3308851
rs750482473
814 Q>H No ClinGen
ExAC
gnomAD
rs1211667812
CA360129572
818 L>M No ClinGen
gnomAD
rs756229383
CA3308852
819 Q>P No ClinGen
ExAC
gnomAD
rs756229383
CA120921824
819 Q>R No ClinGen
ExAC
gnomAD
CA3308871
rs766378658
824 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs752608685
CA3308872
826 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs758261635
CA3308873
827 C>R No ClinGen
ExAC
gnomAD
rs764148209
CA3308874
829 D>Y No ClinGen
ExAC
gnomAD
rs944760621
CA120922154
830 N>K No ClinGen
TOPMed
gnomAD
rs1004498004
CA120922160
833 E>G No ClinGen
Ensembl
rs924424462
CA120922173
836 R>Q No ClinGen
TOPMed
gnomAD
CA120922169
rs1040440340
836 R>W No ClinGen
TOPMed
gnomAD
rs780951743
CA3308877
837 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1259531849
CA360129805
837 Q>R No ClinGen
TOPMed
rs1452622486
CA360129855
840 R>* No ClinGen
gnomAD
CA3308879
rs755619444
COSM170965
840 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs996854884
CA120922194
845 T>A No ClinGen
Ensembl
CA360130146
rs1238646352
854 M>I No ClinGen
gnomAD
CA3308885
rs772452192
854 M>T No ClinGen
ExAC
gnomAD
rs1304600057
CA360130127
854 M>V No ClinGen
gnomAD
TCGA novel 861 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA360130242
rs1580669708
861 H>Y No ClinGen
Ensembl
CA3308887
rs760888650
864 K>N No ClinGen
ExAC
gnomAD
CA360130593
rs1208801059
864 K>R No ClinGen
gnomAD
rs1580669910
CA360130888
871 R>S No ClinGen
Ensembl
rs1462746598
CA360130813
871 R>T No ClinGen
TOPMed
rs779242271
CA3308904
872 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA3308905
rs748671468
874 I>F No ClinGen
ExAC
gnomAD
CA360130997
rs1580669940
879 L>F No ClinGen
Ensembl
TCGA novel 880 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3308907
rs772352586
880 Q>K No ClinGen
ExAC
gnomAD
CA3308908
rs778102701
880 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs747429849
CA3308909
882 A>S No ClinGen
ExAC
gnomAD
CA120922402
rs952366348
883 C>S No ClinGen
TOPMed
CA120922419
rs775023531
885 K>N No ClinGen
gnomAD
CA3308910
rs771032831
886 K>N No ClinGen
ExAC
gnomAD
rs1368446713
CA360131094
886 K>T No ClinGen
gnomAD
CA360131105
rs1302902720
887 T>A No ClinGen
TOPMed
gnomAD
rs939863860
CA120922434
887 T>I No ClinGen
TOPMed
gnomAD

No associated diseases with P04035

4 regional properties for P04035

Type Name Position InterPro Accession
domain Sterol-sensing domain 61 - 222 IPR000731
conserved_site Hydroxymethylglutaryl-CoA reductase, class I/II, conserved site 646 - 660 IPR023076-1
conserved_site Hydroxymethylglutaryl-CoA reductase, class I/II, conserved site 802 - 809 IPR023076-2
conserved_site Hydroxymethylglutaryl-CoA reductase, class I/II, conserved site 856 - 869 IPR023076-3

Functions

Description
EC Number 1.1.1.34 With NAD(+) or NADP(+) as acceptor
Subcellular Localization
  • Endoplasmic reticulum membrane ; Multi-pass membrane protein
  • Peroxisome membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 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).
endoplasmic reticulum membrane The lipid bilayer surrounding the endoplasmic reticulum.
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.
peroxisomal membrane The lipid bilayer surrounding a peroxisome.

3 GO annotations of molecular function

Name Definition
coenzyme A binding Binding to coenzyme A, 3'-phosphoadenosine-(5')diphospho(4')pantatheine, an acyl carrier in many acylation and acyl-transfer reactions in which the intermediate is a thiol ester.
hydroxymethylglutaryl-CoA reductase (NADPH) activity Catalysis of the reaction: (R)-mevalonate + CoA + 2 NADP(+) = (S)-3-hydroxy-3-methylglutaryl-CoA + 2 H(+) + 2 NADPH.
NADPH binding Binding to the reduced form, NADPH, of nicotinamide-adenine dinucleotide phosphate, a coenzyme involved in many redox and biosynthetic reactions.

9 GO annotations of biological process

Name Definition
cholesterol biosynthetic process The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones.
coenzyme A metabolic process The chemical reactions and pathways involving coenzyme A, 3'-phosphoadenosine-(5')diphospho(4')pantatheine, an acyl carrier in many acylation and acyl-transfer reactions in which the intermediate is a thiol ester.
isoprenoid biosynthetic process The chemical reactions and pathways resulting in the formation of an isoprenoid compound, isoprene (2-methylbuta-1,3-diene) or compounds containing or derived from linked isoprene (3-methyl-2-butenylene) residues.
negative regulation of amyloid-beta clearance Any process that stops, prevents or reduces the frequency, rate or extent of amyloid-beta clearance.
negative regulation of MAP kinase activity Any process that stops, prevents, or reduces the frequency, rate or extent of MAP kinase activity.
negative regulation of protein catabolic process Any process that stops, prevents or reduces the frequency, rate or extent of protein catabolic process.
negative regulation of protein secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of a protein from a cell.
sterol biosynthetic process The chemical reactions and pathways resulting in the formation of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule.
visual learning Any process in an organism in which a change in behavior of an individual occurs in response to repeated exposure to a visual cue.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MLSRLFRMHG LFVASHPWEV IVGTVTLTIC MMSMNMFTGN NKICGWNYEC PKFEEDVLSS
70 80 90 100 110 120
DIIILTITRC IAILYIYFQF QNLRQLGSKY ILGIAGLFTI FSSFVFSTVV IHFLDKELTG
130 140 150 160 170 180
LNEALPFFLL LIDLSRASTL AKFALSSNSQ DEVRENIARG MAILGPTFTL DALVECLVIG
190 200 210 220 230 240
VGTMSGVRQL EIMCCFGCMS VLANYFVFMT FFPACVSLVL ELSRESREGR PIWQLSHFAR
250 260 270 280 290 300
VLEEEENKPN PVTQRVKMIM SLGLVLVHAH SRWIADPSPQ NSTADTSKVS LGLDENVSKR
310 320 330 340 350 360
IEPSVSLWQF YLSKMISMDI EQVITLSLAL LLAVKYIFFE QTETESTLSL KNPITSPVVT
370 380 390 400 410 420
QKKVPDNCCR REPMLVRNNQ KCDSVEEETG INRERKVEVI KPLVAETDTP NRATFVVGNS
430 440 450 460 470 480
SLLDTSSVLV TQEPEIELPR EPRPNEECLQ ILGNAEKGAK FLSDAEIIQL VNAKHIPAYK
490 500 510 520 530 540
LETLMETHER GVSIRRQLLS KKLSEPSSLQ YLPYRDYNYS LVMGACCENV IGYMPIPVGV
550 560 570 580 590 600
AGPLCLDEKE FQVPMATTEG CLVASTNRGC RAIGLGGGAS SRVLADGMTR GPVVRLPRAC
610 620 630 640 650 660
DSAEVKAWLE TSEGFAVIKE AFDSTSRFAR LQKLHTSIAG RNLYIRFQSR SGDAMGMNMI
670 680 690 700 710 720
SKGTEKALSK LHEYFPEMQI LAVSGNYCTD KKPAAINWIE GRGKSVVCEA VIPAKVVREV
730 740 750 760 770 780
LKTTTEAMIE VNINKNLVGS AMAGSIGGYN AHAANIVTAI YIACGQDAAQ NVGSSNCITL
790 800 810 820 830 840
MEASGPTNED LYISCTMPSI EIGTVGGGTN LLPQQACLQM LGVQGACKDN PGENARQLAR
850 860 870 880
IVCGTVMAGE LSLMAALAAG HLVKSHMIHN RSKINLQDLQ GACTKKTA