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

12 structures for Q12834

Entry ID Method Resolution Chain Position Source
4GGA X-ray 204 A A 81-499 PDB
4GGC X-ray 135 A A 161-477 PDB
4GGD X-ray 244 A A/B 71-499 PDB
4N14 X-ray 210 A A 165-477 PDB
5G04 EM 400 A R 1-499 PDB
5KHR EM 610 A R 1-499 PDB
5KHU EM 480 A R/S 1-499 PDB
5LCW EM 400 A PDB
6F0X EM 460 A Q 1-499 PDB
6Q6G EM 320 A R 1-499 PDB
6Q6H EM 320 A R 1-499 PDB
AF-Q12834-F1 Predicted AlphaFoldDB

347 variants for Q12834

Variant ID(s) Position Change Description Diseaes Association Provenance
rs781228317
CA807072
2 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA807073
rs747643635
4 F>L No ClinGen
ExAC
gnomAD
CA807074
rs769317252
6 F>L No ClinGen
ExAC
gnomAD
rs772787630
CA807075
7 E>G No ClinGen
ExAC
gnomAD
CA807077
rs772384007
10 L>P No ClinGen
ExAC
gnomAD
rs1368731242
CA339998583
11 H>Y No ClinGen
gnomAD
rs1467610586
CA339998651
15 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA339998743
rs1175552718
17 D>H No ClinGen
TOPMed
rs764603179
CA807080
20 I>L No ClinGen
ExAC
gnomAD
CA21619356
rs1035759944
22 N>D No ClinGen
TOPMed
TCGA novel 22 N>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA807081
rs777078487
22 N>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 24 P>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA807082
rs761850704
25 P>A No ClinGen
ExAC
gnomAD
rs750680898
CA807084
25 P>L No ClinGen
ExAC
gnomAD
rs761850704
CA807083
25 P>S No ClinGen
ExAC
gnomAD
rs1265645939
CA339999020
27 R>H No ClinGen
gnomAD
CA339999030
rs1257652401
28 W>* No ClinGen
TOPMed
CA807086
rs758653830
29 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA21619366
rs866946379
30 R>C No ClinGen
Ensembl
rs750044222
CA21619368
30 R>L No ClinGen
gnomAD
rs1006394021
CA21619370
34 E>K No ClinGen
Ensembl
CA807087
rs766651928
36 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA21619373
rs766651928
36 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1188441660
CA339999204
37 G>S No ClinGen
TOPMed
gnomAD
CA339999280
rs1309255993
39 A>V No ClinGen
gnomAD
rs754780326
CA807090
40 P>A No ClinGen
ExAC
gnomAD
rs1457263542
CA339999392
43 M>T No ClinGen
gnomAD
rs962562704
CA21619384
43 M>V No ClinGen
gnomAD
CA339999435
rs1286202948
45 A>T No ClinGen
TOPMed
rs1291596274
CA339999461
46 A>P No ClinGen
gnomAD
CA339999534
rs1390520006
48 R>G No ClinGen
TOPMed
gnomAD
CA807092
rs748095701
48 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs755637225
CA807093
50 H>P No ClinGen
ExAC
gnomAD
CA339999671
rs1336035472
51 S>I No ClinGen
TOPMed
rs1288187516
CA339999675
51 S>R No ClinGen
TOPMed
gnomAD
CA339999713
rs1229530921
54 R>G No ClinGen
TOPMed
gnomAD
rs755753874
CA21619394
54 R>S No ClinGen
Ensembl
rs1023271328
CA21619397
55 T>A No ClinGen
TOPMed
CA339999745
rs1221886479
55 T>S No ClinGen
gnomAD
rs1313035497
CA339999757
56 P>S No ClinGen
gnomAD
rs148504469
CA807095
57 G>R No ClinGen
ESP
TOPMed
rs766099037
CA807098
58 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA339999846
rs1484301576
60 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA339999979
rs1472817485
63 S>C No ClinGen
gnomAD
CA339999978
rs1472817485
63 S>Y No ClinGen
gnomAD
TCGA novel 72 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340000269
rs1338838649
76 G>S No ClinGen
TOPMed
rs911685120
CA21619460
78 R>P No ClinGen
TOPMed
CA340000385
rs1391149796
84 S>T No ClinGen
TOPMed
CA21619463
rs572168835
88 M>I No ClinGen
1000Genomes
TOPMed
CA340000459
rs1318730890
88 M>V No ClinGen
TOPMed
rs1165813119
CA340000507
89 E>D No ClinGen
gnomAD
rs766847817
CA21619466
89 E>K No ClinGen
Ensembl
CA340000579
rs1432324258
92 S>G No ClinGen
gnomAD
CA807126
rs773552061
92 S>N No ClinGen
ExAC
gnomAD
CA340000593
rs773552061
92 S>T No ClinGen
ExAC
gnomAD
CA340000695
rs1286882456
95 L>V No ClinGen
gnomAD
rs945897493
CA21619472
96 S>N No ClinGen
TOPMed
rs1370102856
CA340000785
97 K>R No ClinGen
gnomAD
rs1444745607
CA340000837
99 N>S No ClinGen
gnomAD
CA340000884
rs1310581648
101 P>A No ClinGen
gnomAD
rs373153778
CA807128
102 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs754596301
CA21619482
103 N>K No ClinGen
Ensembl
CA340000957
rs1472081242
104 S>G No ClinGen
TOPMed
rs1275678866
CA340000973
104 S>N No ClinGen
gnomAD
CA340001013
rs1482863798
106 T>M No ClinGen
gnomAD
CA807131
rs774771408
107 P>L No ClinGen
ExAC
gnomAD
CA340001060
rs1191757473
108 T>I No ClinGen
gnomAD
rs759825563
CA807132
108 T>S No ClinGen
ExAC
gnomAD
rs761745431
CA807156
111 E>* No ClinGen
ExAC
gnomAD
COSM681309
CA807157
rs761745431
111 E>K lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1225329364
CA340001232
112 H>Q No ClinGen
TOPMed
gnomAD
rs749961221
CA807158
115 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA807159
rs757864342
115 A>V No ClinGen
ExAC
gnomAD
rs1272320385
CA340001275
116 W>C No ClinGen
gnomAD
CA21619568
rs17849349
117 A>V No ClinGen
Ensembl
CA21619574
rs113848060
119 N>D No ClinGen
Ensembl
rs757852476
CA340001330
124 D>E No ClinGen
ExAC
gnomAD
CA340001332
rs1472941737
125 V>L No ClinGen
gnomAD
CA21619587
rs955308856
126 E>D No ClinGen
Ensembl
TCGA novel 126 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745973446
CA807167
127 E>K No ClinGen
ExAC
gnomAD
rs1272542089
CA340001372
131 L>F No ClinGen
TOPMed
CA340001389
rs1227989386
134 S>R No ClinGen
TOPMed
CA807171
rs747181936
135 G>V No ClinGen
ExAC
gnomAD
rs768859460
CA807172
137 P>T No ClinGen
ExAC
gnomAD
CA807173
rs141215457
138 Q>* No ClinGen
1000Genomes
ExAC
gnomAD
rs761551175
CA807174
140 A>S No ClinGen
ExAC
gnomAD
CA807175
rs144561572
140 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs146697135
CA807178
142 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs146697135
CA21619598
142 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1203272663
CA340001550
143 G>C No ClinGen
gnomAD
rs974784687
CA21619735
144 Y>N No ClinGen
TOPMed
CA21619740
rs946396248
145 Q>R No ClinGen
TOPMed
rs1306925757
CA340001795
150 V>I No ClinGen
TOPMed
TCGA novel 152 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1325492757
CA340001902
153 S>N No ClinGen
gnomAD
rs1331587384
CA340002016
156 A>P No ClinGen
gnomAD
rs1229392616
CA340002028
156 A>V No ClinGen
TOPMed
CA807204
rs201827674
157 T>P No ClinGen
ExAC
TOPMed
gnomAD
CA807206
rs755057851
161 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA340002234
rs1228757840
161 S>R No ClinGen
gnomAD
CA807207
rs781443151
162 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA807209
rs200111540
162 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA807208
rs781443151
162 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs777550029
CA807210
CA340002323
163 K>N No ClinGen
ExAC
gnomAD
rs1570481353
CA340002289
163 K>Q No ClinGen
Ensembl
rs1570481359
CA340002299
163 K>T No ClinGen
Ensembl
CA807212
rs200928542
164 T>P No ClinGen
ExAC
gnomAD
rs1319447458
CA340002350
165 C>R No ClinGen
gnomAD
rs774304982
CA807213
166 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA340002512
rs1450155087
168 I>V No ClinGen
gnomAD
rs771681686
CA807215
169 P>S No ClinGen
ExAC
gnomAD
CA807217
rs760396935
173 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1444032610
CA340002679
173 D>G No ClinGen
TOPMed
CA807216
rs372598188
173 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA340002750
rs1164813067
174 R>H No ClinGen
gnomAD
rs750779037
CA340002904
178 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs763769478
CA807218
178 A>T No ClinGen
ExAC
gnomAD
rs750779037
CA807219
178 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs766839844
CA807221
180 E>K No ClinGen
ExAC
gnomAD
rs752085108
CA807222
182 R>Q No ClinGen
ExAC
gnomAD
rs755109406
CA807223
183 N>K No ClinGen
ExAC
gnomAD
TCGA novel 185 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1474784752
CA340003549
186 Y>* No ClinGen
gnomAD
TCGA novel 187 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752794876
CA807243
188 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs1419610130
CA340003643
189 L>F No ClinGen
TOPMed
gnomAD
rs202067829
CA21619881
189 L>R No ClinGen
Ensembl
rs764261591
CA807245
193 S>N No ClinGen
ExAC
gnomAD
rs1467130660
CA340004141
198 L>V No ClinGen
gnomAD
CA340004168
rs1313155974
199 A>V No ClinGen
gnomAD
CA340004212
rs1290632615
201 A>E No ClinGen
gnomAD
rs758421116
CA807251
204 N>D No ClinGen
ExAC
TOPMed
CA807252
rs780101568
204 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs768263875
CA807254
205 S>T No ClinGen
ExAC
gnomAD
CA21622013
rs1008710834
210 S>N No ClinGen
TOPMed
gnomAD
CA340006161
rs1253728250
211 A>E No ClinGen
gnomAD
rs769264787
CA807257
212 S>N No ClinGen
ExAC
rs1470384075
CA340006223
215 D>E No ClinGen
gnomAD
CA21622031
rs1018801511
215 D>N No ClinGen
TOPMed
rs1176619285
CA340006236
216 I>T No ClinGen
gnomAD
TCGA novel 217 L>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA807258
rs774793275
220 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA21622035
rs928539190
222 M>V No ClinGen
Ensembl
CA807260
rs759844021
225 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA340006384
rs1434451593
225 P>T No ClinGen
gnomAD
CA340006406
rs768042619
226 G>A No ClinGen
ExAC
gnomAD
CA807261
rs768042619
226 G>E No ClinGen
ExAC
gnomAD
rs1309903090
CA340006411
227 E>Q No ClinGen
TOPMed
rs1309457938
CA340006422
228 Y>C No ClinGen
gnomAD
rs775943973
CA807262
228 Y>H No ClinGen
ExAC
gnomAD
rs959898654
CA21622047
229 I>V No ClinGen
Ensembl
rs1355546057
CA340006449
230 S>F No ClinGen
gnomAD
rs1297007617
CA340006467
231 S>F No ClinGen
gnomAD
rs1372731857
CA340006506
234 W>* No ClinGen
TOPMed
CA807263
rs760792702
235 I>T No ClinGen
ExAC
gnomAD
rs764216014
CA807264
237 E>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 238 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA807265
rs754070636
238 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs974498501
CA21622065
240 Y>C No ClinGen
TOPMed
gnomAD
CA807267
rs558607093
245 T>A No ClinGen
1000Genomes
ExAC
gnomAD
rs1203532703
CA340006689
245 T>N No ClinGen
gnomAD
CA340006725
rs1230917271
247 S>N No ClinGen
gnomAD
rs750276865
CA807268
247 S>R No ClinGen
ExAC
gnomAD
CA340006765
rs1557473674
249 E>D No ClinGen
Ensembl
rs1273751391
CA340006780
250 V>A No ClinGen
gnomAD
rs916015486
CA21622073
251 Q>* No ClinGen
Ensembl
TCGA novel 253 W>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1459241811
TCGA novel
CA340006862
253 W>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
TOPMed
gnomAD
NCI-TCGA
TCGA novel 254 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1262081199
CA340006895
255 V>M No ClinGen
TOPMed
CA340006932
rs1209133790
257 Q>* No ClinGen
TOPMed
TCGA novel 259 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766272694
CA807288
260 R>G No ClinGen
ExAC
gnomAD
rs1428906188
CA340006979
260 R>Q No ClinGen
TOPMed
gnomAD
rs754957702
CA807290
262 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1238221197
CA340007042
264 M>I No ClinGen
TOPMed
TCGA novel 264 M>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340007049
rs1570481963
265 T>P No ClinGen
Ensembl
rs780944056
CA807292
266 S>R No ClinGen
ExAC
COSM535135
CA807295
rs755545971
268 S>F lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA807294
rs752281358
268 S>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA807296
rs562509738
269 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA807297
rs748924941
270 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs1039194610
CA21622164
270 R>Q No ClinGen
TOPMed
gnomAD
CA340007190
rs1336259710
COSM909757
276 W>* endometrium [Cosmic] No ClinGen
cosmic curated
TOPMed
CA340007187
rs1187709094
276 W>G No ClinGen
gnomAD
rs545665041
CA807300
277 N>K No ClinGen
1000Genomes
ExAC
gnomAD
CA340007229
rs1473861847
278 S>N No ClinGen
gnomAD
rs190674570
CA807301
279 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1011295342
CA21622175
281 L>P No ClinGen
TOPMed
rs151010435
CA807304
282 S>A No ClinGen
ExAC
TOPMed
gnomAD
rs143180781
CA807305
282 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs1292450549
CA340007313
283 S>N No ClinGen
gnomAD
CA807321
rs781752713
284 G>D No ClinGen
ExAC
gnomAD
rs1453863337
CA340007388
284 G>S No ClinGen
gnomAD
CA21622236
rs991296026
286 R>C No ClinGen
Ensembl
rs1236373882
COSM1289260
CA340007417
286 R>H oesophagus [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1392234522
CA340007447
288 G>V No ClinGen
gnomAD
CA340007466
rs1462647269
289 H>Q No ClinGen
gnomAD
rs748600009
CA807322
291 H>D No ClinGen
ExAC
gnomAD
CA807323
rs549920906
292 H>D No ClinGen
1000Genomes
ExAC
TOPMed
rs915711344
CA21622256
292 H>Q No ClinGen
TOPMed
CA807324
rs549920906
292 H>Y No ClinGen
1000Genomes
ExAC
TOPMed
CA340007534
rs1422279845
293 H>R No ClinGen
TOPMed
rs749335066
CA807325
295 V>I No ClinGen
ExAC
gnomAD
rs1352704478
CA340007582
296 R>Q No ClinGen
TOPMed
gnomAD
CA340007579
rs112630800
296 R>W No ClinGen
1000Genomes
ExAC
gnomAD
rs1371181265
CA340007635
299 E>D No ClinGen
gnomAD
CA340007647
rs1570482221
300 H>P No ClinGen
Ensembl
CA340007670
rs1439491994
301 H>R No ClinGen
gnomAD
CA807327
rs774403959
302 V>G No ClinGen
ExAC
gnomAD
CA807328
rs759422114
303 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs767199661
CA807329
311 E>Q No ClinGen
ExAC
gnomAD
CA340007850
rs1570482250
312 V>G No ClinGen
Ensembl
rs775560252
CA807330
312 V>L No ClinGen
ExAC
gnomAD
rs760534440
CA807331
313 C>S No ClinGen
ExAC
gnomAD
COSM909758
rs763960946
CA807332
316 R>C endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA807333
rs753367774
316 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA340007909
rs753367774
316 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA21622274
rs867593106
318 A>T No ClinGen
Ensembl
rs1468134484
CA340007928
319 P>A No ClinGen
TOPMed
gnomAD
rs1468134484
CA340007927
319 P>T No ClinGen
TOPMed
gnomAD
CA807334
rs756714014
321 G>R No ClinGen
ExAC
gnomAD
rs372597302
CA807335
322 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA807336
rs140305765
COSM1185439
322 R>Q lung [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA807337
rs755438046
323 H>P No ClinGen
ExAC
gnomAD
TCGA novel 324 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340008010
rs1372348894
325 A>T No ClinGen
gnomAD
TCGA novel 325 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340008044
rs1557474018
327 G>S No ClinGen
Ensembl
CA807339
rs748491001
332 L>F No ClinGen
ExAC
gnomAD
rs756714435
CA807340
333 V>I No ClinGen
ExAC
rs1291108935
CA340008189
334 N>S No ClinGen
TOPMed
rs1460820886
CA340008241
337 P>S No ClinGen
gnomAD
rs199542353
CA807341
338 S>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1363373189
CA340008283
339 A>V No ClinGen
gnomAD
rs749421572
CA807342
340 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA807343
rs749421572
340 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA21622307
rs200047932
343 G>D No ClinGen
gnomAD
rs1570482360
CA340008399
346 V>G No ClinGen
Ensembl
CA340008444
rs1570482374
352 T>P No ClinGen
Ensembl
rs370835580
CA807346
353 Q>P No ClinGen
ESP
ExAC
gnomAD
rs370835580
CA340008453
353 Q>R No ClinGen
ESP
ExAC
gnomAD
CA807365
rs1801456
RCV000950050
361 V>I No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1801456
CA807366
361 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA340008565
rs1412642638
363 W>* No ClinGen
TOPMed
rs1412642638
CA340008569
363 W>C No ClinGen
TOPMed
rs1436218002
CA340008582
364 C>* No ClinGen
gnomAD
CA807367
rs776617856
364 C>G No ClinGen
ExAC
rs1313097986
CA340008585
365 P>A No ClinGen
TOPMed
gnomAD
rs761743390
CA807368
365 P>L No ClinGen
ExAC
gnomAD
rs1313097986
CA340008588
365 P>T No ClinGen
TOPMed
gnomAD
CA807370
rs368676792
369 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs11555249
CA340008686
375 G>A No ClinGen
gnomAD
rs11555249
CA21622456
375 G>E No ClinGen
gnomAD
rs1447450639
CA340008682
375 G>R No ClinGen
gnomAD
TCGA novel 376 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 377 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761176631
CA807375
380 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs764546476
COSM1200339
CA807376
380 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs754185453
CA807377
383 R>C No ClinGen
ExAC
gnomAD
rs879241526
CA21622474
383 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs757848486
CA807378
385 W>C No ClinGen
ExAC
gnomAD
CA340008764
rs1323190702
386 N>S No ClinGen
TOPMed
CA807379
rs779426473
391 A>S No ClinGen
ExAC
gnomAD
rs143739422
CA807381
394 S>G No ClinGen
ESP
ExAC
TOPMed
rs1172992921
CA340008879
396 V>G No ClinGen
TOPMed
gnomAD
rs376655758
CA21622488
396 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376655758
CA807383
396 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1469109526
CA340008890
397 D>E No ClinGen
TOPMed
rs1319743846
CA340008908
399 H>D No ClinGen
gnomAD
rs1461973885
CA340008916
399 H>L No ClinGen
gnomAD
VAR_030368
rs45443196
CA807408
402 V>M No ClinGen
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA340009087
rs1178328048
405 I>N No ClinGen
TOPMed
gnomAD
CA807411
rs745320429
413 E>D No ClinGen
ExAC
gnomAD
rs774006843
CA807410
413 E>Q No ClinGen
ExAC
CA807412
rs771468303
414 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA340009200
rs771468303
414 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs762132307
CA807414
420 F>Y No ClinGen
ExAC
gnomAD
rs201154230
CA21622903
421 A>V No ClinGen
1000Genomes
rs773384058
CA807416
422 Q>E No ClinGen
ExAC
rs1253080127
CA340009445
427 I>S No ClinGen
TOPMed
gnomAD
CA340009449
rs1253080127
427 I>T No ClinGen
TOPMed
gnomAD
CA340009485
rs1164817256
429 K>E No ClinGen
gnomAD
CA21622909
rs11555250
CA807417
429 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA340009534
rs1422493454
431 P>S No ClinGen
gnomAD
CA807418
rs766822161
432 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA340009564
rs1319289274
432 T>I No ClinGen
TOPMed
gnomAD
CA340009677
rs1222189741
438 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA340011393
rs1344375624
439 L>R No ClinGen
TOPMed
rs751670358
CA807419
440 K>Q No ClinGen
ExAC
gnomAD
rs1183146342
CA340011519
443 T>I No ClinGen
gnomAD
TCGA novel 445 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA807450
rs779630788
448 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs1387711470
CA340011545
448 S>N No ClinGen
TOPMed
rs983182236
CA21623213
449 L>M No ClinGen
TOPMed
gnomAD
CA807451
rs746457353
449 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs768386993
CA807452
450 T>S No ClinGen
ExAC
gnomAD
CA807454
rs150849773
451 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760038301
CA807457
457 T>I No ClinGen
ExAC
gnomAD
rs772507044
CA807458
458 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA807460
rs760628470
461 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs764416148
CA807461
464 D>N No ClinGen
ExAC
gnomAD
TCGA novel 465 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340011661
rs1254645412
467 L>M No ClinGen
gnomAD
rs761756771
CA807465
COSM1736946
471 R>C Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA807466
rs761756771
471 R>G No ClinGen
ExAC
gnomAD
COSM1321061
CA807467
rs750186760
471 R>H ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA807468
rs528069998
473 F>L No ClinGen
1000Genomes
ExAC
gnomAD
rs1193576544
CA340011700
473 F>S No ClinGen
TOPMed
rs779815758
CA807469
475 L>M No ClinGen
ExAC
gnomAD
CA340011715
rs1432832386
475 L>S No ClinGen
gnomAD
rs1432832386
CA340011714
475 L>W No ClinGen
gnomAD
CA340011721
rs1570484441
476 D>A No ClinGen
Ensembl
rs751120712
CA807470
476 D>E No ClinGen
ExAC
gnomAD
rs1375787980
CA340011720
476 D>Y No ClinGen
gnomAD
CA340011727
rs1430272133
477 P>S No ClinGen
TOPMed
rs200349485
CA340011734
478 A>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA807471
rs200349485
478 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs45461499
CA807474
479 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs45461499
CA807475
VAR_030369
479 R>Q No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA807473
rs747796157
479 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA807477
rs550872587
480 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA807476
rs746179756
480 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs759288917
CA340011742
481 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs759288917
COSM188742
CA807479
481 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA807478
rs775826244
481 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA807484
rs142588666
483 R>P No ClinGen
ESP
ExAC
TOPMed
CA807483
rs142588666
483 R>Q No ClinGen
ESP
ExAC
TOPMed
CA807481
rs377329238
483 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370248113
CA807486
484 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA340011762
rs1488196803
485 K>E No ClinGen
gnomAD
rs902070557
CA21623355
485 K>R No ClinGen
TOPMed
gnomAD
CA340011764
rs902070557
485 K>T No ClinGen
TOPMed
gnomAD
CA21623357
rs1045022120
486 A>V No ClinGen
Ensembl
CA807489
rs751442023
487 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs374615123
CA807491
487 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA340011804
rs1476810160
491 S>I No ClinGen
gnomAD
rs376581777
CA21623388
493 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376581777
CA807493
493 L>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs777360367
CA807494
494 I>T No ClinGen
ExAC
gnomAD
CA340011820
rs1450118185
494 I>V No ClinGen
TOPMed
rs1386723196
CA340011825
495 H>N No ClinGen
gnomAD
CA807495
rs371111819
499 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA

No associated diseases with Q12834

7 regional properties for Q12834

Type Name Position InterPro Accession
repeat WD40 repeat 169 - 210 IPR001680-1
repeat WD40 repeat 215 - 294 IPR001680-2
repeat WD40 repeat 298 - 337 IPR001680-3
repeat WD40 repeat 344 - 386 IPR001680-4
repeat WD40 repeat 389 - 429 IPR001680-5
repeat WD40 repeat 432 - 471 IPR001680-6
domain Anaphase-promoting complex subunit 4-like, WD40 domain 223 - 278 IPR024977

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
  • Chromosome, centromere, kinetochore
  • Cytoplasm, cytoskeleton, spindle pole
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

8 GO annotations of cellular component

Name Definition
anaphase-promoting complex A ubiquitin ligase complex that degrades mitotic cyclins and anaphase inhibitory protein, thereby triggering sister chromatid separation and exit from mitosis. Substrate recognition by APC occurs through degradation signals, the most common of which is termed the Dbox degradation motif, originally discovered in cyclin B.
centrosome A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
mitotic checkpoint complex A multiprotein complex that functions as a mitotic checkpoint inhibitor of the anaphase-promoting complex/cyclosome (APC/C). In budding yeast this complex consists of Mad2p, Mad3p, Bub3p and Cdc20p, and in mammalian cells it consists of MAD2, BUBR1, BUB3, and CDC20.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
perinuclear region of cytoplasm Cytoplasm situated near, or occurring around, the nucleus.
spindle The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart.
spindle pole Either of the ends of a spindle, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules.

5 GO annotations of molecular function

Name Definition
anaphase-promoting complex binding Binding to an anaphase-promoting complex. A ubiquitin ligase complex that degrades mitotic cyclins and anaphase inhibitory protein, thereby triggering sister chromatid separation and exit from mitosis.
enzyme binding Binding to an enzyme, a protein with catalytic activity.
histone deacetylase binding Binding to histone deacetylase.
protein C-terminus binding Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue.
ubiquitin ligase activator activity Binds to and increases the activity of a ubiquitin ligase.

18 GO annotations of biological process

Name Definition
anaphase-promoting complex-dependent catabolic process The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, with ubiquitin-protein ligation catalyzed by the anaphase-promoting complex, and mediated by the proteasome.
cell differentiation The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
cell division The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
mitotic sister chromatid cohesion The cell cycle process in which the sister chromatids of a replicated chromosome are joined along the entire length of the chromosome, from their formation in S phase through metaphase during a mitotic cell cycle. This cohesion cycle is critical for high fidelity chromosome transmission.
mitotic spindle assembly Mitotic bipolar spindle assembly begins with spindle microtubule nucleation from the separated spindle pole body, includes spindle elongation during prometaphase, and is complete when all kinetochores are stably attached the spindle, and the spindle assembly checkpoint is satisfied.
mitotic spindle assembly checkpoint signaling A signal transduction process that contributes to a mitotic cell cycle spindle assembly checkpoint, that delays the metaphase/anaphase transition of a mitotic nuclear division until the spindle is correctly assembled and chromosomes are attached to the spindle.
negative regulation of ubiquitin-protein transferase activity Any process that stops, prevents, or reduces the frequency, rate or extent of ubiquitin transferase activity.
nervous system development The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
positive regulation of anaphase-promoting complex-dependent catabolic process Any process that activates or increases the frequency, rate or extent of anaphase-promoting complex-dependent catabolic process.
positive regulation of cell population proliferation Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of synapse maturation Any process that increases the extent of synapse maturation, the process that organizes a synapse so that it attains its fully functional state.
positive regulation of synaptic plasticity A process that increases synaptic plasticity, the ability of synapses to change as circumstances require. They may alter function, such as increasing or decreasing their sensitivity, or they may increase or decrease in actual numbers.
positive regulation of ubiquitin protein ligase activity Any process that activates or increases the frequency, rate or extent of ubiquitin protein ligase activity.
protein ubiquitination The process in which one or more ubiquitin groups are added to a protein.
regulation of dendrite development Any process that modulates the frequency, rate or extent of dendrite development.
regulation of meiotic cell cycle Any process that modulates the rate or extent of progression through the meiotic cell cycle.
regulation of meiotic nuclear division Any process that modulates the frequency, rate or extent of meiotic nuclear division, the process in which the nucleus of a diploid cell divides twice forming four haploid cells, one or more of which usually function as gametes.
regulation of mitotic cell cycle Any process that modulates the rate or extent of progress through the mitotic cell cycle.

8 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P50082 AMA1 Meiosis-specific APC/C activator protein AMA1 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
P26309 CDC20 APC/C activator protein CDC20 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
Q960N3 cort Protein cortex Drosophila melanogaster (Fruit fly) PR
Q9UM11 FZR1 Fizzy-related protein homolog Homo sapiens (Human) PR
Q9R1K5 Fzr1 Fizzy-related protein homolog Mus musculus (Mouse) PR
Q9JJ66 Cdc20 Cell division cycle protein 20 homolog Mus musculus (Mouse) PR
Q62623 Cdc20 Cell division cycle protein 20 homolog Rattus norvegicus (Rat) PR
Q8LPL5 FZR3 Protein FIZZY-RELATED 3 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MAQFAFESDL HSLLQLDAPI PNAPPARWQR KAKEAAGPAP SPMRAANRSH SAGRTPGRTP
70 80 90 100 110 120
GKSSSKVQTT PSKPGGDRYI PHRSAAQMEV ASFLLSKENQ PENSQTPTKK EHQKAWALNL
130 140 150 160 170 180
NGFDVEEAKI LRLSGKPQNA PEGYQNRLKV LYSQKATPGS SRKTCRYIPS LPDRILDAPE
190 200 210 220 230 240
IRNDYYLNLV DWSSGNVLAV ALDNSVYLWS ASSGDILQLL QMEQPGEYIS SVAWIKEGNY
250 260 270 280 290 300
LAVGTSSAEV QLWDVQQQKR LRNMTSHSAR VGSLSWNSYI LSSGSRSGHI HHHDVRVAEH
310 320 330 340 350 360
HVATLSGHSQ EVCGLRWAPD GRHLASGGND NLVNVWPSAP GEGGWVPLQT FTQHQGAVKA
370 380 390 400 410 420
VAWCPWQSNV LATGGGTSDR HIRIWNVCSG ACLSAVDAHS QVCSILWSPH YKELISGHGF
430 440 450 460 470 480
AQNQLVIWKY PTMAKVAELK GHTSRVLSLT MSPDGATVAS AAADETLRLW RCFELDPARR
490
REREKASAAK SSLIHQGIR