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 P17275

Entry ID Method Resolution Chain Position Source
AF-P17275-F1 Predicted AlphaFoldDB

279 variants for P17275

Variant ID(s) Position Change Description Diseaes Association Provenance
CA305483810
rs1057444264
8 P>L No ClinGen
TOPMed
CA9231315
rs373960755
9 F>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA404247158
rs1568381700
11 H>D No ClinGen
Ensembl
CA404247164
rs1347227944
11 H>Q No ClinGen
TOPMed
gnomAD
TCGA novel 12 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9231317
rs766066573
12 D>N No ClinGen
ExAC
gnomAD
CA9231319
rs754548911
13 D>G No ClinGen
ExAC
gnomAD
rs752094779
CA9231321
15 Y>F No ClinGen
ExAC
gnomAD
CA9231320
rs780779147
15 Y>H No ClinGen
ExAC
gnomAD
CA404247201
rs1232120106
17 A>G No ClinGen
gnomAD
CA404247198
rs1205150783
17 A>P No ClinGen
gnomAD
rs1205150783
CA404247197
17 A>T No ClinGen
gnomAD
rs377693229
CA9231322
18 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA305483830
rs953847426
COSM40208
18 T>M central_nervous_system [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1245715051
CA404247210
19 G>E No ClinGen
TOPMed
gnomAD
rs1245715051
CA404247212
19 G>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1475565285
CA404247234
23 A>S No ClinGen
gnomAD
rs1475565285
CA404247232
23 A>T No ClinGen
gnomAD
CA9231323
rs566143821
24 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA404247264
rs1164060447
27 L>P No ClinGen
gnomAD
TCGA novel 28 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA305483841
rs866222059
30 H>L No ClinGen
Ensembl
TCGA novel 30 H>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404247312
rs1367407948
31 D>G No ClinGen
gnomAD
CA305483849
rs536479159
32 Y>* No ClinGen
1000Genomes
ExAC
TOPMed
CA305483844
rs1043310256
32 Y>H No ClinGen
TOPMed
TCGA novel 32 Y>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404247339
rs1422464584
33 K>Q No ClinGen
gnomAD
rs747275291
CA9231327
34 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA9231328
rs768700647
35 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA404247382
rs776776576
36 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA9231330
rs761795034
37 P>Q No ClinGen
ExAC
gnomAD
rs377194147
CA9231332
38 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs984257736
CA305483858
38 S>I No ClinGen
Ensembl
CA404247408
rs762774654
CA9231333
38 S>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 40 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766190076
CA9231334
40 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA9231336
rs759244188
41 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs774085996
CA9231335
41 V>I No ClinGen
ExAC
gnomAD
rs767015453
CA9231337
42 N>D No ClinGen
ExAC
gnomAD
rs765894648
CA9231340
CA404247520
45 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA9231339
rs755566344
45 D>N No ClinGen
ExAC
gnomAD
rs1259757621
CA404247556
47 Y>S No ClinGen
TOPMed
CA9231341
rs202243098
48 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs758936159
CA9231342
49 S>T No ClinGen
ExAC
gnomAD
rs780577573
CA9231343
50 L>P No ClinGen
ExAC
gnomAD
CA404247612
rs1313767820
50 L>V No ClinGen
TOPMed
rs1215954843
CA404247659
52 A>E No ClinGen
TOPMed
gnomAD
CA404247661
rs1215954843
52 A>G No ClinGen
TOPMed
gnomAD
CA404247670
rs1404267178
53 P>R No ClinGen
TOPMed
rs570057440
CA9231345
53 P>S No ClinGen
1000Genomes
ExAC
CA404247679
rs1385480818
54 G>E No ClinGen
gnomAD
CA404247701
rs1402249326
56 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA9231346
rs781257277
56 R>P No ClinGen
ExAC
CA404247707
rs1320462888
57 G>R No ClinGen
TOPMed
gnomAD
rs748304885
CA9231347
57 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA404247726
rs917127281
58 P>H No ClinGen
TOPMed
gnomAD
CA305483884
rs917127281
58 P>R No ClinGen
TOPMed
gnomAD
rs1315876476
CA404247768
62 G>S No ClinGen
gnomAD
rs1243337013
CA404247799
64 G>V No ClinGen
gnomAD
rs144512497
CA9231349
67 S>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9231350
rs749248636
67 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA9231351
rs770800888
68 Y>C No ClinGen
ExAC
gnomAD
CA9231352
rs774203546
70 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA404247888
rs774203546
70 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA404247926
rs1244520205
72 Q>R No ClinGen
gnomAD
rs367885167
CA9231353
73 G>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA404247949
rs1186683105
73 G>V No ClinGen
gnomAD
CA404247980
rs1156709805
75 D>A No ClinGen
gnomAD
rs1187256679
CA404248008
77 G>C No ClinGen
gnomAD
CA404248060
rs1418867576
80 L>F No ClinGen
gnomAD
rs763730409
CA9231357
83 A>V No ClinGen
ExAC
gnomAD
CA404248164
rs1260381083
86 E>K No ClinGen
TOPMed
CA9231359
rs758977122
88 E>G No ClinGen
ExAC
gnomAD
CA404248239
rs766988061
89 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs766988061
CA9231360
89 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA9231362
rs372072460
91 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781514054
CA9231363
93 P>S No ClinGen
ExAC
gnomAD
rs1251089961
CA404248346
95 S>N No ClinGen
gnomAD
rs748346774
CA9231364
96 N>S No ClinGen
ExAC
gnomAD
rs1250883191
CA404248410
99 I>S No ClinGen
gnomAD
CA305483933
rs980577138
102 T>M No ClinGen
TOPMed
rs927787776
CA305483941
104 T>K No ClinGen
TOPMed
CA404248474
rs1599523145
105 P>H No ClinGen
Ensembl
rs1464567544
CA404248465
105 P>T No ClinGen
TOPMed
gnomAD
rs1393717100
CA404248493
107 G>A No ClinGen
gnomAD
CA9231367
rs749301986
107 G>R No ClinGen
ExAC
gnomAD
TCGA novel 108 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404248552
rs1336529156
110 F>L No ClinGen
TOPMed
rs1306549669
CA404248560
111 Y>F No ClinGen
gnomAD
CA404248554
rs1466447660
111 Y>N No ClinGen
TOPMed
rs770925811
CA9231368
112 P>T No ClinGen
ExAC
gnomAD
CA404248582
rs774146698
113 R>C No ClinGen
ExAC
gnomAD
CA404248590
rs1284764179
113 R>L No ClinGen
gnomAD
CA9231369
rs774146698
113 R>S No ClinGen
ExAC
gnomAD
rs1329014840
CA404248594
114 G>R No ClinGen
gnomAD
rs893825151
CA305483964
115 G>D No ClinGen
Ensembl
CA305483965
rs960436516
116 G>D No ClinGen
TOPMed
CA404248639
rs1251421252
117 S>G No ClinGen
gnomAD
rs1341377695
CA404248647
117 S>I No ClinGen
gnomAD
rs1203005432
CA404248657
117 S>R No ClinGen
gnomAD
CA305483970
rs746632492
118 G>A No ClinGen
TOPMed
CA404248662
rs1273846175
118 G>S No ClinGen
gnomAD
CA9231370
rs199665194
119 G>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1431703781
CA404248697
120 G>S No ClinGen
gnomAD
rs1198243931
CA404248706
120 G>V No ClinGen
gnomAD
rs1599523193
CA404248712
121 A>T No ClinGen
Ensembl
TCGA novel 121 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1431724001
CA404248739
122 G>R No ClinGen
gnomAD
rs1568381884
CA404248747
122 G>V No ClinGen
Ensembl
rs1167192798
CA404248762
123 G>D No ClinGen
gnomAD
CA404248755
rs1446148725
123 G>S No ClinGen
TOPMed
CA9231373
rs541000941
124 A>S No ClinGen
1000Genomes
ExAC
gnomAD
CA404248769
rs541000941
124 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1295700988
CA404248790
125 G>E No ClinGen
gnomAD
rs1425641451 126 G>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs760427973
CA9231374
126 G>C No ClinGen
ExAC
gnomAD
CA404248797
rs1385933363
126 G>D No ClinGen
gnomAD
CA404248795
rs760427973
126 G>S No ClinGen
ExAC
gnomAD
rs761390844
CA9231377
129 T>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1360135665
CA404248868
130 E>* No ClinGen
gnomAD
rs901459201
CA305483993
133 E>K No ClinGen
gnomAD
CA404249010
rs1262706824
137 D>E No ClinGen
gnomAD
CA404249061
rs1186782662
140 V>I No ClinGen
gnomAD
rs1445806166
CA404249098
142 A>V No ClinGen
gnomAD
rs1338655988
CA404249137
146 L>M No ClinGen
TOPMed
TCGA novel 147 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1432201177
CA404249186
149 M>I No ClinGen
TOPMed
gnomAD
rs1390419713
CA404249182
149 M>T No ClinGen
gnomAD
CA9231385
rs753977029
150 N>K No ClinGen
ExAC
rs757312121
CA9231386
152 V>L No ClinGen
ExAC
gnomAD
rs552829543
CA305484015
153 T>A No ClinGen
1000Genomes
TOPMed
CA9231389
rs771999822
153 T>K No ClinGen
ExAC
gnomAD
rs779715555
CA9231390
154 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs779715555
CA404249240
154 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1310504842
CA404249234
154 P>T No ClinGen
gnomAD
CA404249247
rs1261486147
155 P>H No ClinGen
TOPMed
gnomAD
CA404249249
rs1261486147
155 P>R No ClinGen
TOPMed
gnomAD
CA404249261
rs574468971
156 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA404249278
rs1206864789
158 S>F No ClinGen
gnomAD
rs868043822
CA305484027
159 L>M No ClinGen
Ensembl
rs983898357
CA305484029
161 A>V No ClinGen
TOPMed
gnomAD
rs1184045320
CA404249310
162 T>A No ClinGen
gnomAD
rs563477406
CA9231393
162 T>S No ClinGen
1000Genomes
ExAC
gnomAD
CA9231394
rs761448856
164 G>V No ClinGen
ExAC
gnomAD
rs769217729
CA404249325
165 P>A No ClinGen
ExAC
gnomAD
CA305484040
rs769217729
165 P>S No ClinGen
ExAC
gnomAD
CA9231395
rs769217729
165 P>T No ClinGen
ExAC
gnomAD
CA404249341
rs1599523316
167 A>V No ClinGen
Ensembl
rs1599523322
CA404249350
168 G>A No ClinGen
Ensembl
CA404249362
rs1406106205
169 P>L No ClinGen
gnomAD
CA404249357
rs1175755412
169 P>S No ClinGen
TOPMed
gnomAD
CA404249364
rs1449594379
CA404249365
170 G>R No ClinGen
gnomAD
CA404249376
rs1378385060
171 G>D No ClinGen
gnomAD
rs772728902
CA9231396
171 G>S No ClinGen
ExAC
rs1391742278
CA404249382
172 V>F No ClinGen
gnomAD
TCGA novel 172 V>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 172 V>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs530685477
CA9231397
174 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA305484054
rs972415074
175 G>V No ClinGen
Ensembl
CA9231398
rs768002938
176 P>L No ClinGen
ExAC
gnomAD
rs1226853530
CA404249449
178 P>T No ClinGen
TOPMed
gnomAD
rs1290476249
CA404249477
181 V>I No ClinGen
TOPMed
rs1236180660
CA404249538
186 S>T No ClinGen
gnomAD
rs1483236669
CA404249550
187 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1254489511
CA404249577
189 S>F No ClinGen
gnomAD
CA305484061
rs950028337
189 S>P No ClinGen
Ensembl
rs1471823839
CA404249584
190 P>L No ClinGen
TOPMed
gnomAD
rs12151069
CA305484064
191 A>S No ClinGen
TOPMed
gnomAD
rs12151069
CA404249586
191 A>T No ClinGen
TOPMed
gnomAD
rs1429597994
CA404249591
191 A>V No ClinGen
gnomAD
CA404249612
rs1173408858
193 A>V No ClinGen
gnomAD
CA404249628
rs1241163103
195 S>A No ClinGen
TOPMed
rs980409552
CA305484072
196 G>R No ClinGen
Ensembl
rs757464520
CA9231403
197 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs1348329488
CA404249670
198 A>G No ClinGen
gnomAD
CA404249692
rs1287919541
200 A>P No ClinGen
gnomAD
CA404249690
rs1287919541
200 A>T No ClinGen
gnomAD
CA404249719
rs1368598215
202 V>I No ClinGen
gnomAD
CA305484085
rs867100888
203 G>W No ClinGen
Ensembl
CA9231406
CA305484096
rs758331384
205 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs17881800
CA404249786
206 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA404249807
rs1277405323
207 S>L No ClinGen
gnomAD
CA404249843
rs1181936871
210 T>A No ClinGen
gnomAD
rs1599523447
CA404249857
211 T>A No ClinGen
Ensembl
CA9231408
rs746846753
211 T>N No ClinGen
ExAC
gnomAD
rs754784488
CA9231409
212 T>A No ClinGen
ExAC
gnomAD
rs1188943207
CA404249879
213 I>V No ClinGen
gnomAD
CA404249935
rs1428604281
216 L>F No ClinGen
gnomAD
rs1420005431
CA404249937
216 L>H No ClinGen
TOPMed
rs1170334932
CA404249952
217 P>L No ClinGen
gnomAD
CA9231412
rs769429431
218 H>Q No ClinGen
ExAC
gnomAD
rs747823735
CA9231411
218 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs893934130
CA305484133
219 A>T No ClinGen
TOPMed
gnomAD
CA305484139
rs1002071250
219 A>V No ClinGen
TOPMed
gnomAD
rs1366919180
CA404249987
220 P>L No ClinGen
gnomAD
rs373004953
CA9231413
220 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs772513594
CA9231415
221 P>L No ClinGen
ExAC
gnomAD
rs748828172
CA9231414
221 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs775954192
CA9231417
223 A>D No ClinGen
ExAC
gnomAD
rs775954192
CA9231416
223 A>V No ClinGen
ExAC
gnomAD
CA9231419
rs776935129
224 G>S No ClinGen
ExAC
gnomAD
rs111454909
CA305484185
226 H>P No ClinGen
Ensembl
rs765490204
CA9231421
227 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA404250127
rs1217424977
227 P>S No ClinGen
TOPMed
CA404250150
rs1448833943
228 A>E No ClinGen
TOPMed
gnomAD
rs766454731
CA9231424
228 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1448833943
CA404250155
228 A>V No ClinGen
TOPMed
gnomAD
rs1346165904
CA404250188
230 L>P No ClinGen
TOPMed
gnomAD
CA404250185
rs1346165904
230 L>R No ClinGen
TOPMed
gnomAD
VAR_021081
rs17880705
CA9231425
230 L>V No ClinGen
UniProt
1000Genomes
ExAC
dbSNP
gnomAD
CA404250221
rs1403399172
232 L>S No ClinGen
gnomAD
rs1285525204
CA404250250
234 R>H No ClinGen
TOPMed
rs747907900
CA9231428
235 G>D No ClinGen
ExAC
gnomAD
rs113612911
CA9231427
235 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1322696442
CA404250270
236 A>S No ClinGen
gnomAD
rs1322696442
CA404250272
236 A>T No ClinGen
gnomAD
rs1228380424
CA404250336
238 T>S No ClinGen
gnomAD
rs1358826438
CA404250346
239 F>L No ClinGen
gnomAD
rs1210022588
CA404250436
243 P>L No ClinGen
TOPMed
gnomAD
rs777470976
CA9231430
243 P>S No ClinGen
ExAC
gnomAD
TCGA novel 244 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404250463
rs1430795359
246 V>A No ClinGen
TOPMed
CA404250458
rs1245739918
246 V>M No ClinGen
gnomAD
TCGA novel 247 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404250493
rs1464060530
249 A>G No ClinGen
gnomAD
rs1239168473
CA404250502
250 R>C No ClinGen
gnomAD
CA9231431
rs377604283
250 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA404250508
COSM48457
rs377604283
250 R>L lung large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
TCGA novel 252 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404250580
rs1599523557
254 A>T No ClinGen
Ensembl
CA404250603
rs1161449953
255 T>M No ClinGen
gnomAD
CA404250639
rs1599523564
258 V>A No ClinGen
Ensembl
CA9231433
rs773814712
258 V>L No ClinGen
ExAC
gnomAD
TCGA novel 259 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404250678
rs1284014450
261 I>L No ClinGen
TOPMed
gnomAD
CA404250680
rs1284014450
261 I>V No ClinGen
TOPMed
gnomAD
CA404250727
rs1329420658
263 M>I No ClinGen
TOPMed
gnomAD
rs1229911819
CA404250737
264 E>K No ClinGen
gnomAD
rs998464360
CA305484256
268 R>L No ClinGen
Ensembl
CA404250890
rs1327823383
272 E>K No ClinGen
gnomAD
rs1200560358
CA404250920
273 R>C No ClinGen
gnomAD
CA404250944
rs1258158000
275 R>W No ClinGen
TOPMed
gnomAD
TCGA novel 277 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs374496104
CA9231436
279 R>G No ClinGen
1000Genomes
ExAC
gnomAD
CA404251017
rs1215354308
279 R>P No ClinGen
TOPMed
rs202032423
CA9231438
281 A>G No ClinGen
ExAC
gnomAD
rs202032423
CA404251060
281 A>V No ClinGen
ExAC
gnomAD
CA404251074
rs1410069842
282 A>G No ClinGen
gnomAD
CA404251070
rs1599523608
282 A>S No ClinGen
Ensembl
CA404251141
rs1599523620
285 C>G No ClinGen
Ensembl
rs1173281612
CA404251162
286 R>W No ClinGen
gnomAD
CA404251276
rs1333908278
292 R>H No ClinGen
gnomAD
CA404251278
rs1333908278
292 R>P No ClinGen
gnomAD
CA404251347
rs1222033802
297 E>D No ClinGen
TOPMed
CA404251416
rs1286020998
302 T>M No ClinGen
gnomAD
TCGA novel 304 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770362511
CA9231440
305 A>T No ClinGen
ExAC
gnomAD
CA404251480
rs1257318184
308 A>T No ClinGen
gnomAD
CA404251518
rs1199753940
311 S>L No ClinGen
gnomAD
CA404251526
rs1483889136
312 S>N No ClinGen
gnomAD
rs1599523656
CA404251532
313 T>P No ClinGen
Ensembl
TCGA novel 314 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9231444
rs767556313
314 A>V No ClinGen
ExAC
gnomAD
CA404251558
rs1199666124
315 G>S No ClinGen
gnomAD
CA404251592
rs1173518782
318 R>W No ClinGen
gnomAD
rs755915436
CA9231446
319 E>D No ClinGen
ExAC
gnomAD
rs1599523681
CA404251662
324 L>F No ClinGen
Ensembl
rs1568382132
CA404251695
326 Q>H No ClinGen
Ensembl
rs753562214
CA9231448
329 M>T No ClinGen
ExAC
gnomAD
CA9231449
rs756858322
330 T>S No ClinGen
ExAC
gnomAD
CA404251773
rs1302978545
332 V>I No ClinGen
TOPMed
gnomAD
rs1302978545
CA404251771
332 V>L No ClinGen
TOPMed
gnomAD
TCGA novel 335 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA305484334
rs201669552
337 Q>H No ClinGen
Ensembl
rs566081553
CA305484336
340 L>F No ClinGen
1000Genomes
CA9231450
rs778411292
341 G>E No ClinGen
ExAC
gnomAD
rs1599523705
CA404251953
342 V>G No ClinGen
Ensembl
rs745319469
CA9231451
346 A>T No ClinGen
ExAC
TOPMed
gnomAD

No associated diseases with P17275

2 regional properties for P17275

Type Name Position InterPro Accession
domain Basic-leucine zipper domain 266 - 331 IPR004827
domain Jun-like transcription factor 6 - 256 IPR005643

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 GO annotations of cellular component

Name Definition
chromatin The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
RNA polymerase II transcription regulator complex A transcription factor complex that acts at a regulatory region of a gene transcribed by RNA polymerase II.
transcription factor AP-1 complex A heterodimeric transcription factor complex composed of proteins from the c-Fos, c-Jun, activating transcription factor (ATF) or JDP families. The subunits contain a basic leucine zipper (bZIP) domain that is essential for dimerization and DNA binding. Jun-Fos heterodimers bind preferentially to a heptamer consensus sequence (TPA responsive element (TRE)), whereas Jun-ATF dimers bind the cyclic AMP responsive element (CRE) to regulate transcription of target genes.
transcription regulator complex A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription.

5 GO annotations of molecular function

Name Definition
DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA-binding transcription activator activity, RNA polymerase II-specific A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription factor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
RNA polymerase II cis-regulatory region sequence-specific DNA binding Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
sequence-specific double-stranded DNA binding Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding.

17 GO annotations of biological process

Name Definition
cellular response to calcium ion Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus.
decidualization The cellular and vascular changes occurring in the endometrium of the pregnant uterus just after the onset of blastocyst implantation. This process involves the proliferation and differentiation of the fibroblast-like endometrial stromal cells into large, polyploid decidual cells that eventually form the maternal component of the placenta.
embryonic process involved in female pregnancy A reproductive process occurring in the embryo or fetus that allows the embryo or fetus to develop within the mother.
integrated stress response signaling The series of molecular signals generated in response to diverse stress stimuli required to restore cellular homeostasis. The core event in this pathway is the phosphorylation of eIF2 alpha by one of four members of the eIF2a kinase family (EIF2AK1/HRI, EIF2AK2/PKR, EIF2AK3/PERK and EIF2AK4/GCN2), which leads to a decrease in global protein synthesis and the induction of selected genes, including the transcription factor ATF4, that together promote cellular recovery.
labyrinthine layer blood vessel development The process whose specific outcome is the progression of a blood vessel of the labyrinthine layer of the placenta over time, from its formation to the mature structure. The embryonic vessels grow through the layer to come in close contact with the maternal blood supply.
osteoblast differentiation The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone.
osteoblast proliferation The multiplication or reproduction of osteoblasts, resulting in the expansion of an osteoblast cell population. An osteoblast is a bone-forming cell which secretes an extracellular matrix. Hydroxyapatite crystals are then deposited into the matrix to form bone.
osteoclast differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of an osteoclast. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue.
osteoclast proliferation The multiplication or reproduction of osteoclasts, resulting in the expansion of an osteoclast cell population. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue, which typically differentiates from monocytes.
positive regulation of cell differentiation Any process that activates or increases the frequency, rate or extent of cell differentiation.
positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
regulation of cell cycle Any process that modulates the rate or extent of progression through the cell cycle.
regulation of cell population proliferation Any process that modulates the frequency, rate or extent of cell proliferation.
regulation of T-helper 17 cell differentiation Any process that modulates the frequency, rate or extent of T-helper 17 cell differentiation.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
trophectodermal cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of a trophectoderm cell.
vasculogenesis The differentiation of endothelial cells from progenitor cells during blood vessel development, and the de novo formation of blood vessels and tubes.

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q0VBZ5 JUNB Transcription factor JunB Bos taurus (Bovine) PR
P09450 Junb Transcription factor JunB Mus musculus (Mouse) PR
P24898 Junb Transcription factor JunB Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MCTKMEQPFY HDDSYTATGY GRAPGGLSLH DYKLLKPSLA VNLADPYRSL KAPGARGPGP
70 80 90 100 110 120
EGGGGGSYFS GQGSDTGASL KLASSELERL IVPNSNGVIT TTPTPPGQYF YPRGGGSGGG
130 140 150 160 170 180
AGGAGGGVTE EQEGFADGFV KALDDLHKMN HVTPPNVSLG ATGGPPAGPG GVYAGPEPPP
190 200 210 220 230 240
VYTNLSSYSP ASASSGGAGA AVGTGSSYPT TTISYLPHAP PFAGGHPAQL GLGRGASTFK
250 260 270 280 290 300
EEPQTVPEAR SRDATPPVSP INMEDQERIK VERKRLRNRL AATKCRKRKL ERIARLEDKV
310 320 330 340
KTLKAENAGL SSTAGLLREQ VAQLKQKVMT HVSNGCQLLL GVKGHAF