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

17 structures for P54725

Entry ID Method Resolution Chain Position Source
1DV0 NMR - A 319-363 PDB
1F4I NMR - A 319-363 PDB
1IFY NMR - A 156-204 PDB
1OQY NMR - A 1-363 PDB
1P98 NMR - A 1-78 PDB
1P9D NMR - U 1-78 PDB
1QZE NMR - A 2-363 PDB
1TP4 NMR - A 223-317 PDB
2WYQ X-ray 165 A A 1-82 PDB
5XBO NMR - B 156-204 PDB
6W2G X-ray 110 A A/B 155-204 PDB
6W2H X-ray 160 A A 155-204 PDB
6W2I X-ray 145 A A 155-204 PDB
6XQI X-ray 234 A F/G 319-358 PDB
6XQJ NMR - A 223-363 PDB
7TGP X-ray 140 A A 155-204 PDB
AF-P54725-F1 Predicted AlphaFoldDB

258 variants for P54725

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1411161505
CA404317709
2 A>S No ClinGen
gnomAD
CA404317721
rs1426172837
4 T>A No ClinGen
TOPMed
rs753433859
CA9236116
4 T>N No ClinGen
ExAC
TOPMed
gnomAD
CA9236118
rs778413534
5 I>S No ClinGen
ExAC
gnomAD
CA9236117
rs756873359
5 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1312576686
CA404317746
8 K>R No ClinGen
gnomAD
CA305523208
rs45546235
11 Q>* No ClinGen
TOPMed
gnomAD
CA9236119
rs745342405
13 Q>* No ClinGen
ExAC
gnomAD
rs1411756392
CA404317787
14 T>I No ClinGen
gnomAD
CA9236120
rs769191860
15 F>L No ClinGen
ExAC
gnomAD
rs1234650768
CA404317798
16 K>Q No ClinGen
TOPMed
gnomAD
CA9236122
rs748569014
19 M>I No ClinGen
ExAC
gnomAD
CA404317819
rs1274910168
19 M>V No ClinGen
gnomAD
rs770051390
CA9236123
20 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA9236124
rs773560731
21 P>A No ClinGen
ExAC
gnomAD
rs771137182
CA9236126
22 D>E No ClinGen
ExAC
gnomAD
CA9236127
rs774608082
23 E>Q No ClinGen
ExAC
gnomAD
CA305523308
rs759661066
24 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA9236128
rs759661066
24 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA404319572
rs1261308140
26 K>R No ClinGen
gnomAD
rs756611226
CA9236163
27 V>A No ClinGen
ExAC
gnomAD
rs141708834
CA9236162
27 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA404319678
rs1415818834
30 E>D No ClinGen
gnomAD
CA404319708
rs1474915283
32 I>T No ClinGen
gnomAD
TCGA novel 32 I>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778316310
CA9236164
34 A>S No ClinGen
ExAC
gnomAD
rs749668247
CA9236165
COSM991547
38 R>C endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs749668247
CA9236166
38 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA404319859
rs1452100267
38 R>H No ClinGen
TOPMed
gnomAD
rs1288610281
CA404319947
42 P>S No ClinGen
gnomAD
rs746097976
CA9236168
43 V>M No ClinGen
ExAC
gnomAD
CA404320358
CA9236175
rs146958349
58 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs761578570
CA9236174
58 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 59 V>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404320442
rs1484093479
62 R>M No ClinGen
gnomAD
CA9236176
rs772935104
64 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs765976759
CA9236178
65 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA404320501
rs1182917616
66 I>V No ClinGen
gnomAD
CA404320515
rs751071968
67 D>H No ClinGen
ExAC
gnomAD
CA9236179
rs751071968
67 D>N No ClinGen
ExAC
gnomAD
CA9236180
rs759068052
68 E>K No ClinGen
ExAC
gnomAD
TCGA novel 73 V>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754368275
CA9236182
74 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 78 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9236202
rs750863392
79 T>I No ClinGen
ExAC
gnomAD
rs199689360
CA9236204
82 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA404320800
rs1272107992
83 Q>P No ClinGen
TOPMed
rs1384036048
CA404320817
84 G>A No ClinGen
TOPMed
rs1384036048
CA404320815
84 G>D No ClinGen
TOPMed
rs73505386
CA9236205
84 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1286422563
CA404320837
86 S>A No ClinGen
TOPMed
CA9236206
rs538175343
88 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 89 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 90 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 91 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1340447793
CA404320902
91 A>S No ClinGen
TOPMed
rs923397006
CA305525592
91 A>V No ClinGen
gnomAD
rs781356707
CA9236207
93 P>R No ClinGen
ExAC
gnomAD
rs748188762
CA9236208
94 T>I No ClinGen
ExAC
gnomAD
rs1329620240
CA404320956
95 A>P No ClinGen
TOPMed
CA305525611
rs908908485
96 A>T No ClinGen
TOPMed
gnomAD
rs1450454506
CA404320976
96 A>V No ClinGen
TOPMed
gnomAD
CA404320981
rs1416940431
97 P>A No ClinGen
gnomAD
rs1168205750
CA404320990
97 P>L No ClinGen
TOPMed
CA9236210
rs777666414
100 S>A No ClinGen
ExAC
TOPMed
gnomAD
rs1164807985
CA404321054
102 S>F No ClinGen
gnomAD
CA9236211
rs375981873
104 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773952708
CA9236213
107 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA404321149
rs1437005388
109 S>L No ClinGen
TOPMed
gnomAD
rs771580434
CA9236215
110 G>S No ClinGen
ExAC
gnomAD
CA9236216
rs775176242
113 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1360056343
CA404321216
113 H>Y No ClinGen
gnomAD
TCGA novel 115 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404321273
rs765900414
115 P>L No ClinGen
ExAC
gnomAD
CA9236218
rs765900414
115 P>R No ClinGen
ExAC
gnomAD
CA305525701
rs1006063317
115 P>S No ClinGen
TOPMed
gnomAD
CA9236221
rs766779899
118 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs751822670
CA9236222
119 R>T No ClinGen
ExAC
TOPMed
gnomAD
rs1280661165
CA404321377
120 E>G No ClinGen
TOPMed
rs1474855136
CA404321393
121 D>N No ClinGen
gnomAD
CA9236224
rs767606169
122 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA9236225
rs752825559
123 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs1412540965
CA404321509
125 S>P No ClinGen
gnomAD
rs777756589
CA9236227
129 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs749232374
CA9236228
130 P>S No ClinGen
ExAC
TOPMed
gnomAD
VAR_016251
rs11558955
CA9236230
131 T>A No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA9236231
rs148187629
131 T>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9236232
rs148187629
131 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs558256837
CA9236234
132 T>K No ClinGen
ExAC
gnomAD
CA9236233
rs558256837
132 T>M No ClinGen
ExAC
gnomAD
rs776223624
CA9236236
134 P>L No ClinGen
ExAC
gnomAD
CA404321711
rs1282647501
135 E>G No ClinGen
gnomAD
CA9236237
rs763537337
136 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA9236240
rs759798483
137 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA9236239
rs200107326
137 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9236238
rs200107326
137 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1381401815
CA404321772
138 S>L No ClinGen
TOPMed
rs200506311
CA9236241
139 G>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1186528553
CA404321779
139 G>D No ClinGen
gnomAD
CA404321849
rs1568453170
140 S>C No ClinGen
Ensembl
CA404321857
rs1463931095
141 V>L No ClinGen
TOPMed
rs1306029963
CA404321881
142 P>L No ClinGen
gnomAD
CA9236257
rs760016308
143 S>P No ClinGen
ExAC
gnomAD
CA9236259
rs141369284
145 G>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9236260
rs369026746
147 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9236262
rs753994476
CA9236263
148 G>R No ClinGen
ExAC
gnomAD
rs1055842383
CA305526093
149 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs765282021
CA9236264
149 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA404321966
rs201128109
152 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9236266
rs758351125
153 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs376900039
CA9236267
153 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9236269
rs200238909
154 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs780970129
CA9236270
155 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA305526165
rs1030984404
156 T>K No ClinGen
gnomAD
rs1030984404
CA404322086
156 T>M No ClinGen
gnomAD
rs1030984404
CA404322085
156 T>R No ClinGen
gnomAD
rs150788485
CA9236291
159 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1160441898
CA404322236
161 S>F No ClinGen
gnomAD
rs748795390
CA9236293
165 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA9236295
rs780521795
166 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs538880947
CA9236296
168 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA404322357
rs1309037665
171 M>I No ClinGen
gnomAD
rs547432572
CA9236298
171 M>T No ClinGen
1000Genomes
ExAC
gnomAD
CA404322350
rs1354230142
171 M>V No ClinGen
TOPMed
gnomAD
CA404322364
rs1314975685
173 M>V No ClinGen
gnomAD
rs1256385036
CA404322377
174 G>A No ClinGen
gnomAD
rs1237972905
CA404322373
174 G>S No ClinGen
gnomAD
rs778646826
CA305526468
176 E>K No ClinGen
Ensembl
rs1348809848
CA404322395
177 R>* No ClinGen
gnomAD
CA9236300
rs200493290
177 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs565619875
CA9236302
178 E>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9236303
rs565619875
178 E>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
VAR_020377
rs4987203
CA9236305
179 R>Q No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA9236304
rs774428190
179 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA404322407
rs1417722670
180 V>I No ClinGen
gnomAD
CA9236307
rs554597904
181 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9236308
rs755757631
182 A>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 183 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404322453
rs1568453423
187 S>R No ClinGen
Ensembl
rs756752141
CA9236311
187 S>T No ClinGen
ExAC
rs778325372
CA9236312
190 N>T No ClinGen
ExAC
gnomAD
rs1371016644
CA404322486
192 H>P No ClinGen
TOPMed
gnomAD
rs747524787
COSM1711887
CA9236313
193 R>* skin [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs755462298
CA9236314
193 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA404322498
rs1372869284
194 A>G No ClinGen
gnomAD
CA404322499
COSM233228
rs1372869284
194 A>V skin [Cosmic] No ClinGen
cosmic curated
gnomAD
CA404322503
rs1268388032
195 V>A No ClinGen
TOPMed
rs748513382
CA9236316
195 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA305527961
rs769180661
198 L>V No ClinGen
TOPMed
gnomAD
VAR_016252
CA9236317
rs4987202
200 T>M No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA404322562
rs1218017273
203 P>S No ClinGen
TOPMed
gnomAD
CA9236343
rs779167454
204 G>V No ClinGen
ExAC
CA404322574
rs1225395350
205 S>N No ClinGen
gnomAD
rs139644856
CA9236344
206 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
CA305528200
rs977516182
207 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA305528202
rs924695646
208 P>L No ClinGen
TOPMed
gnomAD
CA305528208
rs868641497
209 E>K No ClinGen
gnomAD
CA404322596
rs868641497
209 E>Q No ClinGen
gnomAD
CA9236349
rs776358401
211 G>D No ClinGen
ExAC
gnomAD
rs768506976
CA9236348
211 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA9236350
rs761483338
212 S>F No ClinGen
ExAC
gnomAD
CA404322654
rs1205455830
217 Q>R No ClinGen
TOPMed
rs531597926
CA9236353
219 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9236352
rs542397046
219 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs756523126
CA9236356
220 E>A No ClinGen
ExAC
gnomAD
rs756523126
CA404322671
220 E>G No ClinGen
ExAC
gnomAD
CA9236358
COSM1390693
rs778306837
222 P>L large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA9236357
rs778306837
222 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1357601475
CA404322685
222 P>S No ClinGen
TOPMed
TCGA novel 223 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404322692
rs1313514139
223 A>V No ClinGen
gnomAD
rs148708384
CA9236361
224 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA305528366
rs11558954
227 A>V No ClinGen
Ensembl
rs1163586176
CA404322742
229 E>A No ClinGen
gnomAD
CA404322743
rs1366709657
229 E>D No ClinGen
gnomAD
rs1237392203
CA404322749
230 N>S No ClinGen
gnomAD
rs1237392203
CA404322748
230 N>T No ClinGen
gnomAD
CA305528368
rs922436091
231 P>T No ClinGen
gnomAD
TCGA novel 232 L>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs41561218
CA305528376
233 E>* No ClinGen
Ensembl
rs1229162656
CA404322779
235 L>V No ClinGen
Ensembl
CA9236386
rs754956151
236 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA9236385
rs747026594
236 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs910578874
CA305528408
237 D>H No ClinGen
Ensembl
CA9236387
rs781094089
237 D>V No ClinGen
ExAC
gnomAD
rs1400116042
CA404322809
240 Q>P No ClinGen
gnomAD
CA9236389
rs769581525
243 N>I No ClinGen
ExAC
TOPMed
gnomAD
CA9236390
rs772826183
244 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs201928561
CA9236392
245 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs201928561
CA9236393
245 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA404322846
rs1270308155
245 R>W No ClinGen
gnomAD
rs1599668535
CA404322861
247 V>G No ClinGen
Ensembl
rs1219918662
CA404322857
247 V>L No ClinGen
TOPMed
rs547674173
CA9236395
249 Q>E No ClinGen
1000Genomes
ExAC
gnomAD
rs267605293
CA305528472
252 P>S No ClinGen
Ensembl
rs777277641
CA404322902
253 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs777277641
CA9236397
253 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA9236400
rs750711569
257 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs758684522
CA9236401
260 Q>R No ClinGen
ExAC
gnomAD
TCGA novel 261 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs2242518
CA305528492
261 Q>R No ClinGen
Ensembl
rs766487138
CA9236402
264 Q>K No ClinGen
ExAC
gnomAD
TCGA novel 264 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404323000
rs1462311750
269 L>H No ClinGen
gnomAD
CA404323008
rs1167495427
270 L>F No ClinGen
gnomAD
TCGA novel 271 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA305531337
rs151314000
273 I>V No ClinGen
ESP
TOPMed
CA9236425
rs760520920
275 R>L No ClinGen
ExAC
gnomAD
CA9236424
rs760520920
275 R>Q No ClinGen
ExAC
gnomAD
CA305531342
rs1046715911
275 R>W No ClinGen
TOPMed
gnomAD
CA305531388
rs1050265071
277 Q>* No ClinGen
Ensembl
CA305531398
rs902501491
278 E>G No ClinGen
TOPMed
rs778878178
CA9236428
278 E>Q No ClinGen
ExAC
gnomAD
CA9236429
rs752902956
284 L>V No ClinGen
ExAC
gnomAD
rs778120001
CA9236431
287 P>R No ClinGen
ExAC
gnomAD
CA9236432
rs747360004
288 P>L No ClinGen
ExAC
gnomAD
CA9236434
rs771465178
290 E>G No ClinGen
ExAC
gnomAD
rs1344742558
CA404323158
291 L>V No ClinGen
gnomAD
rs781751879
CA9236435
292 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs887596156
CA305531492
293 D>Y No ClinGen
Ensembl
rs773739832
CA9236440
296 D>V No ClinGen
ExAC
gnomAD
CA9236441
rs761453504
297 V>A No ClinGen
ExAC
gnomAD
rs1053804917
CA305531552
299 G>E No ClinGen
TOPMed
rs772899507
CA9236443
299 G>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 301 V>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9236446
rs753723172
303 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA305531590
rs1018065445
304 I>T No ClinGen
TOPMed
gnomAD
rs1599671529
CA404323237
304 I>V No ClinGen
Ensembl
rs1213042423
CA404323245
305 G>E No ClinGen
gnomAD
CA404323259
rs1401343234
307 E>A No ClinGen
TOPMed
CA404323275
rs1483231608
309 P>L No ClinGen
gnomAD
rs752710312
CA9236449
311 M>I No ClinGen
ExAC
CA404323308
rs758558966
314 I>F No ClinGen
ExAC
gnomAD
CA9236450
rs758558966
314 I>L No ClinGen
ExAC
gnomAD
rs758558966
CA9236451
314 I>V No ClinGen
ExAC
gnomAD
TCGA novel 317 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751865333
CA9236452
317 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA404323332
rs781702169
318 P>A No ClinGen
ExAC
gnomAD
CA9236455
rs746311517
318 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA9236454
rs781702169
318 P>T No ClinGen
ExAC
gnomAD
CA404323339
rs1568455387
319 Q>P No ClinGen
Ensembl
TCGA novel
CA9236459
rs747588545
320 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
TOPMed
gnomAD
NCI-TCGA
rs772809602
CA9236460
322 E>A No ClinGen
ExAC
gnomAD
TCGA novel 322 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 323 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 325 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776319080
CA9236485
329 A>T No ClinGen
ExAC
gnomAD
CA404323468
rs1187715755
336 L>V No ClinGen
gnomAD
rs916747485
CA305531830
340 A>V No ClinGen
TOPMed
rs762963923
CA9236489
343 A>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 347 N>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 349 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404323601
rs767826146
354 F>L No ClinGen
ExAC
gnomAD
rs1399995264
CA404323613
357 S>G No ClinGen
gnomAD
rs775051740
CA305531878
357 S>N No ClinGen
Ensembl
rs756392712
CA404323658
362 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA9236496
rs766788097
363 E>K No ClinGen
ExAC
gnomAD
CA404323660
rs766788097
363 E>Q No ClinGen
ExAC
gnomAD

No associated diseases with P54725

1 regional properties for P54725

Type Name Position InterPro Accession
domain Small GTP-binding protein domain 7 - 162 IPR005225

Functions

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

8 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
intracellular membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
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.
proteasome complex A large multisubunit complex which catalyzes protein degradation, found in eukaryotes, archaea and some bacteria. In eukaryotes, this complex consists of the barrel shaped proteasome core complex and one or two associated proteins or complexes that act in regulating entry into or exit from the core.
protein-containing complex A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

7 GO annotations of molecular function

Name Definition
damaged DNA binding Binding to damaged DNA.
kinase binding Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group.
polyubiquitin modification-dependent protein binding Binding to a protein upon poly-ubiquitination of the target protein.
proteasome binding Binding to a proteasome, a large multisubunit protein complex that catalyzes protein degradation.
single-stranded DNA binding Binding to single-stranded DNA.
ubiquitin binding Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation.
ubiquitin-specific protease binding Binding to a ubiquitin-specific protease.

7 GO annotations of biological process

Name Definition
nucleotide-excision repair A DNA repair process in which a small region of the strand surrounding the damage is removed from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. Nucleotide excision repair recognizes a wide range of substrates, including damage caused by UV irradiation (pyrimidine dimers and 6-4 photoproducts) and chemicals (intrastrand cross-links and bulky adducts).
positive regulation of cell cycle Any process that activates or increases the rate or extent of progression through the cell cycle.
positive regulation of proteasomal ubiquitin-dependent protein catabolic process Any process that activates or increases the frequency, rate or extent of the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome.
positive regulation of viral genome replication Any process that activates or increases the frequency, rate or extent of viral genome replication.
proteasome-mediated ubiquitin-dependent protein 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, and mediated by the proteasome.
protein destabilization Any process that decreases the stability of a protein, making it more vulnerable to degradative processes or aggregation.
regulation of proteasomal ubiquitin-dependent protein catabolic process Any process that modulates the frequency, rate or extent of the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome.

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P32628 RAD23 UV excision repair protein RAD23 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
A3KMV2 RAD23A UV excision repair protein RAD23 homolog A Bos taurus (Bovine) PR
P54726 Rad23a UV excision repair protein RAD23 homolog A Mus musculus (Mouse) PR
10 20 30 40 50 60
MAVTITLKTL QQQTFKIRME PDETVKVLKE KIEAEKGRDA FPVAGQKLIY AGKILSDDVP
70 80 90 100 110 120
IRDYRIDEKN FVVVMVTKTK AGQGTSAPPE ASPTAAPESS TSFPPAPTSG MSHPPPAARE
130 140 150 160 170 180
DKSPSEESAP TTSPESVSGS VPSSGSSGRE EDAASTLVTG SEYETMLTEI MSMGYERERV
190 200 210 220 230 240
VAALRASYNN PHRAVEYLLT GIPGSPEPEH GSVQESQVSE QPATEAAGEN PLEFLRDQPQ
250 260 270 280 290 300
FQNMRQVIQQ NPALLPALLQ QLGQENPQLL QQISRHQEQF IQMLNEPPGE LADISDVEGE
310 320 330 340 350 360
VGAIGEEAPQ MNYIQVTPQE KEAIERLKAL GFPESLVIQA YFACEKNENL AANFLLSQNF
DDE