Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

2 structures for Q5T2D3

Entry ID Method Resolution Chain Position Source
4BOU X-ray 155 A A 52-209 PDB
AF-Q5T2D3-F1 Predicted AlphaFoldDB

313 variants for Q5T2D3

Variant ID(s) Position Change Description Diseaes Association Provenance
CA338812770
rs1362089965
6 A>T No ClinGen
gnomAD
rs1229056894
CA338812803
7 A>V No ClinGen
TOPMed
rs1226643525
CA338812871
10 R>W No ClinGen
TOPMed
gnomAD
rs1414246478
CA338812883
11 P>T No ClinGen
TOPMed
gnomAD
CA338812932
rs1423055462
12 G>D No ClinGen
gnomAD
CA338812922
rs1168765870
12 G>S No ClinGen
gnomAD
rs868459140
CA18895374
13 S>N No ClinGen
gnomAD
CA338812976
rs1447940303
14 G>C No ClinGen
TOPMed
gnomAD
CA338812981
rs1303853819
14 G>D No ClinGen
TOPMed
gnomAD
CA338812977
rs1447940303
14 G>S No ClinGen
TOPMed
gnomAD
CA338812985
rs1303853819
14 G>V No ClinGen
TOPMed
gnomAD
CA18895382
rs931132257
16 R>Q No ClinGen
TOPMed
gnomAD
CA18895376
rs919782580
16 R>W No ClinGen
TOPMed
gnomAD
CA338813067
rs1275872757
18 A>D No ClinGen
gnomAD
CA18895383
rs1037887199
19 E>D No ClinGen
TOPMed
gnomAD
CA338813084
rs1316783281
19 E>K No ClinGen
gnomAD
rs201163171
CA657402
22 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA338813204
rs1440691963
22 R>S No ClinGen
gnomAD
CA338813255
rs1191814308
24 R>W No ClinGen
TOPMed
gnomAD
CA18895401
rs901939041
25 D>N No ClinGen
TOPMed
gnomAD
rs901939041
CA338813277
25 D>Y No ClinGen
TOPMed
gnomAD
CA338813336
rs1172996079
26 E>G No ClinGen
gnomAD
CA18895415
rs1046725375
28 A>V No ClinGen
TOPMed
gnomAD
CA657405
rs773380225
30 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs763528887
CA657406
31 R>Q No ClinGen
ExAC
gnomAD
CA338813587
rs1295982214
36 E>D No ClinGen
gnomAD
CA338813576
rs569453344
36 E>K No ClinGen
1000Genomes
TOPMed
CA18895435
rs569453344
36 E>Q No ClinGen
1000Genomes
TOPMed
CA657407
rs530190493
37 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs530190493
CA338813593
37 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA338813608
rs1271485706
38 R>P No ClinGen
gnomAD
rs372907505
CA18895446
40 R>L No ClinGen
Ensembl
TCGA novel 40 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA338813647
rs1218616848
41 P>S Variant assessed as Somatic; 0.0001332 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA18895454
rs1011691217
42 E>G No ClinGen
TOPMed
gnomAD
CA657411
rs760142848
44 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA18895476
rs1002556955
46 G>V No ClinGen
TOPMed
CA338813756
rs1462394691
48 G>C No ClinGen
TOPMed
gnomAD
rs1195569769
CA338813772
49 C>Y No ClinGen
gnomAD
rs1225949888
CA338813816
52 E>* No ClinGen
TOPMed
CA338813819
rs1253386239
52 E>V No ClinGen
TOPMed
CA657413
rs753480211
58 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA338813898
rs1334476801
58 N>S No ClinGen
TOPMed
gnomAD
CA338813918
rs1397369308
59 Q>H No ClinGen
gnomAD
rs1181902287
CA338813912
59 Q>R No ClinGen
TOPMed
CA338813927
rs1433367698
60 L>R No ClinGen
gnomAD
CA338813938
rs1426608625
61 Q>H No ClinGen
TOPMed
CA338813974
rs1343527624
65 L>P No ClinGen
TOPMed
gnomAD
CA338813990
rs1419980146
66 K>N No ClinGen
gnomAD
rs1557671204
CA338814043
71 P>L No ClinGen
Ensembl
rs778776410
CA657415
72 G>A No ClinGen
ExAC
gnomAD
CA338814050
rs778776410
72 G>E No ClinGen
ExAC
gnomAD
CA657431
rs760240630
76 C>* No ClinGen
ExAC
gnomAD
rs763594833
CA657432
77 L>F No ClinGen
ExAC
gnomAD
rs1471337669
CA338815455
78 F>L No ClinGen
gnomAD
rs776054462
CA657433
80 A>G No ClinGen
ExAC
gnomAD
CA338815469
rs1388056357
81 L>V No ClinGen
gnomAD
CA338815526
rs1463662899
89 S>P No ClinGen
gnomAD
CA657435
rs536348725
90 R>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA657437
rs758098056
COSM1719835
90 R>Q Variant assessed as Somatic; 9.277e-05 impact. NS [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
TCGA novel 90 R>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA338815535
rs1247127060
91 N>D No ClinGen
gnomAD
rs1428870221
CA338815556
94 K>E No ClinGen
gnomAD
rs889427048
CA18902300
COSM1185355
94 K>R lung [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1371669730
CA338815567
95 H>R No ClinGen
TOPMed
CA18902303
rs199573234
97 Q>E No ClinGen
Ensembl
CA657439
rs751538309
97 Q>R No ClinGen
ExAC
gnomAD
rs554603015
CA657440
98 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA338815584
rs554603015
98 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA338815596
rs1282652331
99 T>I No ClinGen
gnomAD
CA338815624
CA657441
rs190906083
103 M>I No ClinGen
1000Genomes
ExAC
gnomAD
CA338815622
rs1304562040
103 M>T No ClinGen
TOPMed
CA18902319
rs1010593765
103 M>V No ClinGen
Ensembl
CA657442
rs540260034
104 I>T No ClinGen
1000Genomes
ExAC
gnomAD
CA338815626
rs1361184228
104 I>V No ClinGen
Ensembl
rs1275175684
CA338815649
107 R>Q No ClinGen
gnomAD
rs765352475
CA18902323
107 R>W No ClinGen
TOPMed
TCGA novel 116 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA338815721
rs1198602571
117 D>N No ClinGen
gnomAD
CA657444
rs777824446
119 P>R No ClinGen
ExAC
gnomAD
rs1439931366
CA338815742
120 F>V No ClinGen
gnomAD
CA338815770
rs771190012
123 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1472289671
CA338815772
124 V>M No ClinGen
gnomAD
rs1315021274
CA338815797
126 S>G No ClinGen
gnomAD
CA18904927
rs966283051
131 G>A No ClinGen
TOPMed
rs1440893087
CA338815849
133 F>S No ClinGen
TOPMed
CA338815897
rs1366428667
136 N>S No ClinGen
TOPMed
gnomAD
rs1309301545
CA338815906
137 D>Y No ClinGen
gnomAD
CA338815925
rs1426161084
138 A>E No ClinGen
TOPMed
rs1255872577
CA338815940
139 I>T No ClinGen
gnomAD
rs778112027
CA657461
139 I>V No ClinGen
ExAC
gnomAD
rs1346169418
CA338815949
140 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1163836353
CA338815966
141 A>D No ClinGen
TOPMed
CA657463
rs757436022
143 A>T No ClinGen
ExAC
gnomAD
rs1487139882
CA338815996
143 A>V No ClinGen
gnomAD
rs375869805
CA18905019
144 R>T No ClinGen
ESP
TOPMed
rs1330352962
CA338816021
145 N>S No ClinGen
TOPMed
CA338816070
rs1192457958
147 Q>H No ClinGen
gnomAD
rs779266574
CA657464
148 L>F No ClinGen
ExAC
gnomAD
CA338816132
rs1429729097
152 I>S No ClinGen
gnomAD
CA18905033
rs935697141
155 L>F No ClinGen
Ensembl
rs565425521
CA18905047
156 N>D No ClinGen
Ensembl
TCGA novel 156 N>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs746185753
CA657465
157 A>S No ClinGen
ExAC
gnomAD
CA657466
rs772599029
157 A>V No ClinGen
ExAC
gnomAD
rs1175353265
CA338816210
158 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs775945726
CA657467
161 Q>* No ClinGen
ExAC
gnomAD
CA338816818
rs371092366
162 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA18907746
rs917426897
162 I>V No ClinGen
TOPMed
gnomAD
CA657498
rs760544978
163 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA338816823
rs764047355
163 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs764047355
CA657499
163 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA18907772
rs528426495
165 T>A No ClinGen
gnomAD
CA338816895
rs1265198806
168 S>N No ClinGen
gnomAD
CA338816902
rs1463037708
169 S>G No ClinGen
gnomAD
CA338816908
rs1557678411
169 S>T No ClinGen
Ensembl
CA338816917
rs1400126100
170 V>M No ClinGen
gnomAD
CA657501
rs544797762
171 R>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs976293809
CA18907807
172 E>* No ClinGen
Ensembl
CA657503
rs375390419
174 H>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1377403155
CA338816990
175 I>V No ClinGen
TOPMed
gnomAD
rs199964779
CA657506
178 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA657505
rs780294087
178 R>W No ClinGen
ExAC
gnomAD
CA657507
rs200380749
179 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1234431674
CA338817026
180 G>R No ClinGen
gnomAD
TCGA novel 182 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA338817052
rs1345407310
183 Y>C No ClinGen
gnomAD
rs770547354
CA657510
COSM902304
184 D>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs370880245
CA657511
185 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs771796005
CA657513
187 R>Q No ClinGen
ExAC
gnomAD
CA657512
COSM378865
rs745517322
187 R>W lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA657514
rs775175554
188 R>K No ClinGen
ExAC
gnomAD
rs1390689297
CA338817087
189 I>V No ClinGen
gnomAD
rs1357808290
CA338817094
190 N>D No ClinGen
TOPMed
gnomAD
rs1357808290
CA338817092
190 N>H No ClinGen
TOPMed
gnomAD
rs201938614
CA338817096
190 N>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201938614
CA657515
190 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1291184609
CA338817114
192 N>K No ClinGen
TOPMed
CA338817117
rs1285721870
193 S>A No ClinGen
gnomAD
rs768516517
CA657516
193 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs776608771
CA657517
196 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA657519
rs765297375
200 Q>H No ClinGen
ExAC
gnomAD
CA338817163
rs1360618637
200 Q>R No ClinGen
gnomAD
CA657520
rs773217184
201 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs773217184
CA18907933
201 T>R No ClinGen
ExAC
gnomAD
rs766583675
CA657522
202 D>N No ClinGen
ExAC
gnomAD
rs759880608
CA657542
205 M>V No ClinGen
ExAC
gnomAD
rs767927110
CA657543
209 D>E No ClinGen
ExAC
gnomAD
CA338817866
rs1319788751
210 E>G No ClinGen
gnomAD
rs992476206
CA18911577
211 S>T No ClinGen
gnomAD
rs753050918
CA657544
212 N>K No ClinGen
ExAC
gnomAD
CA338817906
rs1295417793
216 K>E No ClinGen
TOPMed
CA657546
rs764658974
217 I>T No ClinGen
ExAC
TCGA novel 218 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1237607770
CA338817935
220 K>E No ClinGen
gnomAD
rs1420465997
CA338817939
220 K>N No ClinGen
gnomAD
rs1288705222
CA338817941
221 G>R No ClinGen
Ensembl
CA657547
rs749998612
222 M>V No ClinGen
ExAC
TOPMed
CA657548
rs757904396
223 D>N No ClinGen
ExAC
gnomAD
CA657549
rs779631390
224 S>F No ClinGen
ExAC
gnomAD
CA18911613
rs61750789
227 D>A No ClinGen
Ensembl
CA338817988
rs1472017924
227 D>E No ClinGen
TOPMed
CA657551
COSM182650
rs754522313
227 D>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 232 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs942067693
CA18911616
233 E>D No ClinGen
Ensembl
rs941063477
CA18911631
235 A>T No ClinGen
TOPMed
gnomAD
CA657553
rs780985847
236 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA657554
rs546445307
238 K>E No ClinGen
1000Genomes
ExAC
gnomAD
CA657555
rs769762740
240 C>Y No ClinGen
ExAC
gnomAD
rs1425193576
CA338818079
241 N>D No ClinGen
TOPMed
rs1364728150
CA338818090
242 A>V No ClinGen
gnomAD
CA657556
rs142250482
243 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA18911673
rs142250482
243 T>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 244 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA338818126
rs1311291528
247 D>N No ClinGen
gnomAD
rs1355140013
CA338818139
248 F>C No ClinGen
TOPMed
gnomAD
rs1355140013
CA338818138
248 F>S No ClinGen
TOPMed
gnomAD
rs1295255927
CA338818152
250 L>* No ClinGen
gnomAD
CA338818151
rs1415617984
250 L>V No ClinGen
gnomAD
CA338818160
rs1179798620
251 I>T No ClinGen
gnomAD
rs772465704
CA657581
251 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA338818173
rs1227385846
253 Q>R No ClinGen
gnomAD
CA657584
rs769138536
256 E>* No ClinGen
ExAC
gnomAD
TCGA novel 259 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA657585
rs186008071
260 Y>C No ClinGen
1000Genomes
ExAC
gnomAD
rs1557681615
CA338818220
260 Y>H No ClinGen
Ensembl
rs762397335
CA657586
261 N>Y No ClinGen
ExAC
gnomAD
rs564836449
CA657587
262 I>T No ClinGen
1000Genomes
ExAC
gnomAD
CA18912003
rs1000574528
262 I>V No ClinGen
Ensembl
rs751120284
CA657588
263 E>V No ClinGen
ExAC
gnomAD
rs1373505532
CA338818253
265 A>S No ClinGen
gnomAD
rs767214580
CA657590
266 I>T No ClinGen
ExAC
gnomAD
CA657589
rs758946019
266 I>V No ClinGen
ExAC
gnomAD
rs1374603657
CA338818268
267 I>M No ClinGen
gnomAD
CA18912038
rs61752515
268 A>P No ClinGen
Ensembl
CA657591
rs752338966
268 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA657593
rs200790645
269 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA657594
rs532238566
270 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 270 L>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA657595
rs532238566
270 L>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs369009180
CA657598
271 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA657599
rs372656324
271 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA657597
rs369009180
271 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1571183279
CA338818284
272 M>L No ClinGen
Ensembl
rs1395869858
CA338818298
273 N>S No ClinGen
TOPMed
CA338818303
rs1211180738
274 Q>* No ClinGen
gnomAD
rs1489042204
CA338818490
279 N>K No ClinGen
TOPMed
CA338818501
rs1365626813
280 A>G No ClinGen
gnomAD
CA338818503
rs1365626813
280 A>V No ClinGen
gnomAD
CA18913050
rs1054525313
283 N>D No ClinGen
Ensembl
TCGA novel 283 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
VAR_087061
rs78466831
CA657619
288 G>D found in a family with an early age of onset of diabetes; unknown pathological significance; reduced the stability and catalytic activity [UniProt] No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
UniProt
CA657620
rs191701178
289 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA338818607
rs191701178
289 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA338818612
rs781247080
289 R>P No ClinGen
ExAC
gnomAD
rs781247080
CA657621
289 R>Q No ClinGen
ExAC
gnomAD
CA18913072
rs775608626
290 V>E No ClinGen
TOPMed
gnomAD
CA657622
rs200185091
290 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA338818676
rs773554496
294 C>W No ClinGen
ExAC
gnomAD
CA657625
rs564519845
296 P>R No ClinGen
1000Genomes
ExAC
gnomAD
CA338818755
rs1223630841
302 G>D No ClinGen
gnomAD
rs377681109
CA338818764
303 S>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377681109
CA657627
303 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760149018
CA657628
304 G>D No ClinGen
ExAC
gnomAD
rs1207402468
CA338818793
305 A>S No ClinGen
TOPMed
gnomAD
CA657629
rs763859266
308 F>L No ClinGen
ExAC
gnomAD
rs776138793
CA657630
309 G>E No ClinGen
ExAC
gnomAD
CA657631
rs761739384
310 N>S No ClinGen
ExAC
gnomAD
CA338818975
rs1418642067
312 G>S No ClinGen
TOPMed
gnomAD
rs764945746
CA657632
314 N>I No ClinGen
ExAC
gnomAD
rs764945746
CA657633
314 N>S No ClinGen
ExAC
gnomAD
rs763007582
CA657634
315 E>* No ClinGen
ExAC
gnomAD
TCGA novel 315 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA338819125
rs1557682294
317 R>K No ClinGen
Ensembl
rs1334271087
CA338819169
319 E>D No ClinGen
TOPMed
CA657638
rs755094105
319 E>K No ClinGen
ExAC
TOPMed
gnomAD
VAR_051258
CA657640
rs2298110
321 N>S No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA18913209
rs201480887
323 A>V No ClinGen
Ensembl
rs562238027
CA18913224
326 S>T No ClinGen
1000Genomes
gnomAD
CA18913246
rs879357470
COSM1260728
327 P>L oesophagus [Cosmic] No ClinGen
cosmic curated
TOPMed
CA657642
rs370284415
327 P>S No ClinGen
ESP
ExAC
gnomAD
rs778017549
CA657643
328 S>N No ClinGen
ExAC
gnomAD
rs373747321
CA18913260
329 E>G No ClinGen
ESP
TOPMed
gnomAD
CA657645
rs771465521
332 K>R No ClinGen
ExAC
gnomAD
CA657646
rs10916668
VAR_051259
333 A>T No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA338820393
rs1557682370
335 K>E No ClinGen
Ensembl
rs1185303854
CA338820455
338 L>F No ClinGen
gnomAD
rs372327524
CA657648
339 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1422253999
CA338820490
339 A>V No ClinGen
gnomAD
rs199687893
CA657669
341 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA338820632
rs1222260015
342 T>P No ClinGen
gnomAD
CA338820658
rs1283704262
343 N>K No ClinGen
gnomAD
CA338820663
rs1317541099
344 K>E No ClinGen
gnomAD
CA18913935
rs984516768
344 K>R No ClinGen
TOPMed
gnomAD
rs928634921
CA18913939
346 R>K No ClinGen
TOPMed
gnomAD
rs762905488
CA338820687
347 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA657673
rs762905488
347 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs61752512
CA657674
347 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA338820710
rs1315202761
350 Q>R No ClinGen
TOPMed
rs1406640367
CA338820730
352 M>I No ClinGen
TOPMed
gnomAD
rs1571186940
CA338820725
352 M>V No ClinGen
Ensembl
CA338820742
rs1161293648
354 K>E No ClinGen
gnomAD
CA338820750
rs1272104318
355 K>E No ClinGen
TOPMed
rs759414328
CA657677
356 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA657679
rs775470797
357 R>Q No ClinGen
ExAC
gnomAD
CA657678
rs369363412
357 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 359 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs76871606
CA657681
359 E>G No ClinGen
ExAC
gnomAD
rs760784127
CA657680
359 E>K No ClinGen
ExAC
gnomAD
CA338820836
rs1279124834
360 E>G No ClinGen
gnomAD
CA18913973
rs74812179
361 R>S No ClinGen
Ensembl
rs1374151992
CA338820868
CA338820869
362 H>Q No ClinGen
gnomAD
CA338820875
COSM182651
rs1230382652
363 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA657682
rs754057060
363 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA338820885
rs1482202797
364 H>N No ClinGen
TOPMed
rs1183588597
CA338820928
366 A>G No ClinGen
TOPMed
TCGA novel 366 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA338820940
rs1292503452
367 L>P No ClinGen
gnomAD
CA338820936
rs1214826186
367 L>V No ClinGen
TOPMed
gnomAD
CA338820955
rs1436386099
368 E>G No ClinGen
gnomAD
CA657684
rs765599979
369 S>N No ClinGen
ExAC
CA657685
rs750741388
COSM4143231
370 R>S thyroid [Cosmic] No ClinGen
cosmic curated
ExAC
rs758864460
CA338821003
371 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA657686
rs758864460
371 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA338821036
rs1388498979
373 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA657687
rs780582583
374 R>T No ClinGen
ExAC
TOPMed
gnomAD
CA338821111
rs1183786718
377 N>S No ClinGen
gnomAD
CA657689
rs200725243
378 R>G No ClinGen
1000Genomes
ExAC
CA657690
rs777349228
378 R>K No ClinGen
ExAC
gnomAD
rs201731406
CA657691
379 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA18914035
rs749721253
379 S>N No ClinGen
Ensembl
rs770657770
CA18914041
379 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA18914054
rs1039993167
380 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs901521084
CA18914073
381 A>T No ClinGen
Ensembl
rs745643567
CA657694
383 A>G No ClinGen
ExAC
gnomAD
CA657693
rs774317957
383 A>T No ClinGen
ExAC
gnomAD
rs745643567
CA657695
383 A>V No ClinGen
ExAC
gnomAD
rs760734059
CA657697
384 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA657699
rs764163900
384 N>K No ClinGen
ExAC
gnomAD
rs373018769
CA657700
385 T>M No ClinGen
ESP
ExAC
gnomAD
CA657702
rs375063759
386 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA657703
rs768806192
387 V>I No ClinGen
ExAC
gnomAD
CA18914134
rs533389856
388 T>I No ClinGen
1000Genomes
gnomAD
rs1228705673
CA338821307
390 V>L No ClinGen
TOPMed
CA657705
rs199722871
394 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA657706
rs755482174
394 A>V No ClinGen
ExAC
gnomAD
rs142918335
CA657708
395 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs142918335
CA18914172
395 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA338821375
rs1383373551
396 L>V No ClinGen
Ensembl
CA657709
rs757008985
398 I>F No ClinGen
ExAC
gnomAD
rs757008985
CA657710
398 I>L No ClinGen
ExAC
gnomAD
CA338821419
rs757008985
398 I>V No ClinGen
ExAC
gnomAD
TCGA novel 399 I>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA

No associated diseases with Q5T2D3

No regional properties for Q5T2D3

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q5T2D3

Functions

Description
EC Number 3.4.19.12 Omega peptidases
Subcellular Localization
  • Cytoplasm
  • Nucleus
  • Glucose or fatty acid promote nuclear translocation upon acetylation
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 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.

1 GO annotations of molecular function

Name Definition
cysteine-type deubiquitinase activity An thiol-dependent isopeptidase activity that cleaves ubiquitin from a target protein to which it is conjugated.

7 GO annotations of biological process

Name Definition
negative regulation of protein kinase B signaling Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B.
protein deubiquitination The removal of one or more ubiquitin groups from a protein.
protein K11-linked deubiquitination A protein deubiquitination process in which a K11-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 11 of the ubiquitin monomers, is removed from a protein.
protein K27-linked deubiquitination A protein deubiquitination process in which a K27-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 27 of the ubiquitin monomers, is removed from a protein.
protein K48-linked deubiquitination A protein deubiquitination process in which a K48-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 48 of the ubiquitin monomers, is removed from a protein.
protein K6-linked deubiquitination A protein deubiquitination process in which a K6-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 6 of the ubiquitin monomers, is removed from a protein.
protein stabilization Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q96G74 OTUD5 OTU domain-containing protein 5 Homo sapiens (Human) PR
10 20 30 40 50 60
MSRKQAAKSR PGSGSRKAEA ERKRDERAAR RALAKERRNR PESGGGGGCE EEFVSFANQL
70 80 90 100 110 120
QALGLKLREV PGDGNCLFRA LGDQLEGHSR NHLKHRQETV DYMIKQREDF EPFVEDDIPF
130 140 150 160 170 180
EKHVASLAKP GTFAGNDAIV AFARNHQLNV VIHQLNAPLW QIRGTEKSSV RELHIAYRYG
190 200 210 220 230 240
EHYDSVRRIN DNSEAPAHLQ TDFQMLHQDE SNKREKIKTK GMDSEDDLRD EVEDAVQKVC
250 260 270 280 290 300
NATGCSDFNL IVQNLEAENY NIESAIIAVL RMNQGKRNNA EENLEPSGRV LKQCGPLWEE
310 320 330 340 350 360
GGSGARIFGN QGLNEGRTEN NKAQASPSEE NKANKNQLAK VTNKQRREQQ WMEKKKRQEE
370 380 390
RHRHKALESR GSHRDNNRSE AEANTQVTLV KTFAALNI