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

3 structures for Q92499

Entry ID Method Resolution Chain Position Source
4XW3 X-ray 200 A A/B 72-283 PDB
8TBX X-ray 271 A PDB
AF-Q92499-F1 Predicted AlphaFoldDB

477 variants for Q92499

Variant ID(s) Position Change Description Diseaes Association Provenance
CA42639162
rs761476299
2 A>V No ClinGen
TOPMed
gnomAD
CA345881639
rs1442129612
3 A>T No ClinGen
TOPMed
gnomAD
rs10165091
CA42639175
4 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA345881670
rs1406348283
5 S>C No ClinGen
TOPMed
gnomAD
CA345881671
rs1406348283
5 S>F No ClinGen
TOPMed
gnomAD
rs1182259235
CA345881666
5 S>T No ClinGen
TOPMed
rs775600567
CA1537318
7 M>V No ClinGen
ExAC
gnomAD
rs1208606375
CA345883089
9 V>I No ClinGen
gnomAD
CA1537319
rs201662298
10 M>V No ClinGen
1000Genomes
ExAC
gnomAD
CA42641638
rs879086962
11 P>L No ClinGen
Ensembl
rs764339515
CA1537320
12 E>G No ClinGen
ExAC
gnomAD
rs766871564
CA42641645
12 E>Q No ClinGen
Ensembl
rs201230296
CA1537321
13 I>N No ClinGen
1000Genomes
ExAC
gnomAD
rs1422253406
CA345883992
15 Q>E No ClinGen
TOPMed
CA1537323
rs199880652
17 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1246889545
CA345884072
18 E>Q No ClinGen
gnomAD
CA1537324
rs750891600
19 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1181084423
CA345884147
20 M>V No ClinGen
TOPMed
CA345884166
rs946814111
21 D>H No ClinGen
gnomAD
CA42641655
rs946814111
21 D>N No ClinGen
gnomAD
rs750850002
CA1537342
24 L>F No ClinGen
ExAC
gnomAD
rs147696327
CA1537343
26 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA345884528
rs1236045021
26 T>S No ClinGen
TOPMed
CA1537344
rs766957264
30 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs1332134200
CA345884666
30 A>P No ClinGen
TOPMed
CA42641969
rs571665866
31 E>A No ClinGen
Ensembl
rs754483644
CA1537346
32 S>A No ClinGen
ExAC
gnomAD
CA1537348
rs2302929
35 L>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs996518951
CA42642033
36 I>F No ClinGen
TOPMed
rs1426998859
CA345884891
38 G>V No ClinGen
gnomAD
CA1537350
rs777404346
43 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1466514648
CA345884995
44 M>T No ClinGen
TOPMed
TCGA novel 55 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345885326
rs1336837148
57 S>C No ClinGen
TOPMed
TCGA novel 57 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1537386
rs11550369
61 I>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1537387
rs763523667
63 I>M No ClinGen
ExAC
gnomAD
rs753461061
CA1537388
64 V>F No ClinGen
ExAC
gnomAD
CA1537389
rs368985586
65 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1318805337
CA345885376
65 Y>N No ClinGen
gnomAD
rs1558450549
CA345885408
67 T>I No ClinGen
Ensembl
CA1537390
rs764996490
68 L>V No ClinGen
ExAC
gnomAD
rs1480289544
CA345885426
69 K>E No ClinGen
TOPMed
gnomAD
CA345885502
rs1333933064
72 Q>H No ClinGen
gnomAD
CA1537391
rs750259842
73 E>K No ClinGen
ExAC
gnomAD
rs758221603
CA1537392
74 G>D No ClinGen
ExAC
gnomAD
TCGA novel 77 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel
rs751468588
CA1537394
77 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
ExAC
gnomAD
CA345885636
rs1418567211
79 T>I No ClinGen
TOPMed
CA345885648
rs1558450568
80 T>R No ClinGen
Ensembl
CA42643593
rs977034772
81 I>M No ClinGen
Ensembl
CA345885656
rs1464436328
81 I>V No ClinGen
gnomAD
rs553463267
CA42643594
82 K>R No ClinGen
Ensembl
rs777785275
CA1537397
84 G>D No ClinGen
ExAC
gnomAD
rs749505330
CA1537398
85 A>G No ClinGen
ExAC
gnomAD
CA345887353
rs1228564172
91 W>L No ClinGen
TOPMed
TCGA novel 92 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345887391
rs1361542771
93 M>I No ClinGen
gnomAD
CA345887386
rs1200019793
93 M>R No ClinGen
gnomAD
CA1537413
rs377594537
93 M>V No ClinGen
ESP
ExAC
gnomAD
rs777884030
CA1537415
95 P>A No ClinGen
ExAC
gnomAD
CA1537416
rs754007875
96 Y>N No ClinGen
ExAC
gnomAD
CA345887461
rs1305700255
97 D>E No ClinGen
gnomAD
CA1537419
rs779224512
100 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA1537418
rs779224512
100 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs531560941
CA1537430
104 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1233607382
CA345888707
104 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA345888736
rs1352684635
105 G>R No ClinGen
TOPMed
gnomAD
rs759483708
CA1537432
107 D>G No ClinGen
ExAC
gnomAD
rs1451867567
CA345888805
108 G>S No ClinGen
gnomAD
rs1215157934
CA345888837
109 L>H No ClinGen
gnomAD
CA345888930
rs1250695716
111 C>* No ClinGen
gnomAD
rs767314009
CA1537433
112 Q>P No ClinGen
ExAC
gnomAD
rs1178422592
CA345889016
114 R>I No ClinGen
TOPMed
rs1178422592
CA345889012
114 R>K No ClinGen
TOPMed
TCGA novel 117 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1472019387
CA345889168
118 E>Q No ClinGen
TOPMed
gnomAD
CA1537436
rs373201659
125 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1537435
rs373201659
125 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345889534
rs1176323527
126 K>E No ClinGen
TOPMed
rs1471433374
CA345889566
127 G>R No ClinGen
TOPMed
gnomAD
CA1537439
rs541637062
130 K>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA345890563
rs1416401709
131 G>E No ClinGen
gnomAD
rs1303504352
CA345890603
133 H>Q No ClinGen
gnomAD
rs1218827574
CA345890600
133 H>R No ClinGen
gnomAD
rs1354498662
CA345890595
133 H>Y No ClinGen
TOPMed
gnomAD
CA1537461
rs552466839
134 Y>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs192868487
CA345890654
135 Y>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1537462
rs192868487
135 Y>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA345890645
rs1336906997
135 Y>H No ClinGen
TOPMed
gnomAD
rs1486278039
CA345890711
137 V>L No ClinGen
gnomAD
rs748642812
CA1537464
138 S>Y No ClinGen
ExAC
gnomAD
CA42648015
rs200330218
139 C>F No ClinGen
Ensembl
CA345890757
rs1255814704
140 H>D No ClinGen
gnomAD
CA1537467
rs748704428
145 C>R No ClinGen
ExAC
gnomAD
CA1537469
rs556274301
146 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA42648046
rs909561510
146 R>T No ClinGen
TOPMed
rs771988190
CA1537471
148 G>R No ClinGen
ExAC
gnomAD
CA1537473
rs760665184
149 W>C No ClinGen
ExAC
gnomAD
rs775481415
CA1537472
149 W>G No ClinGen
ExAC
gnomAD
CA1537474
rs768676344
152 M>V No ClinGen
ExAC
gnomAD
CA345891065
rs1297315212
157 D>G No ClinGen
gnomAD
CA345891071
rs1215241235
158 L>I No ClinGen
TOPMed
CA345891077
rs1486988796
158 L>P No ClinGen
TOPMed
rs1324261817
CA345891083
159 G>R No ClinGen
gnomAD
TCGA novel 172 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs373674722
CA42648414
175 H>L No ClinGen
ESP
gnomAD
rs1381273262
CA345891509
175 H>Y No ClinGen
gnomAD
rs746753084
CA1537493
176 N>K No ClinGen
ExAC
gnomAD
rs1301879917
CA345891593
178 Q>K No ClinGen
gnomAD
CA1537494
rs140238349
184 E>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781101961
CA1537512
186 F>S No ClinGen
ExAC
CA345891997
CA1537513
rs201032703
188 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1248274132
CA345891983
188 M>V No ClinGen
gnomAD
CA345892012
rs1295131054
189 H>R No ClinGen
gnomAD
TCGA novel 190 D>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345892058
rs1188315745
191 T>N No ClinGen
gnomAD
CA42648804
rs937240253
192 I>T No ClinGen
Ensembl
CA1537514
rs769814818
192 I>V No ClinGen
ExAC
gnomAD
rs898033311
CA42648807
195 Y>H No ClinGen
TOPMed
rs577309697
CA1537515
198 I>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1055665221
CA42648818
198 I>V No ClinGen
Ensembl
CA42648831
rs745895894
200 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA1537516
rs745895894
200 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA42648833
rs566964575
201 G>R No ClinGen
TOPMed
CA1537518
rs137946800
203 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs866060575
CA345892341
206 S>C No ClinGen
TOPMed
CA42648860
rs866060575
206 S>F No ClinGen
TOPMed
CA345892337
rs1371728012
206 S>T No ClinGen
gnomAD
rs199550453
CA42650309
209 G>V No ClinGen
1000Genomes
CA1537552
rs752422924
211 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs376500579
CA1537550
211 D>H No ClinGen
ESP
ExAC
gnomAD
CA1537551
rs752422924
211 D>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 211 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1454294029
CA345892804
212 L>I No ClinGen
gnomAD
rs1174850621
CA345892829
213 G>R No ClinGen
gnomAD
rs1174850621
CA345892822
213 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1317843134
CA345892841
213 G>V No ClinGen
TOPMed
TCGA novel 217 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1537554
rs371333614
218 I>L No ClinGen
ESP
ExAC
gnomAD
CA1537555
rs184905286
218 I>T No ClinGen
1000Genomes
ExAC
gnomAD
rs777609261
CA1537557
220 P>S No ClinGen
ExAC
gnomAD
rs753759700
CA1537558
221 H>L No ClinGen
ExAC
TOPMed
gnomAD
CA345892905
rs1227060875
221 H>N No ClinGen
TOPMed
rs753759700
CA1537559
221 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA1537560
rs780075692
222 M>K No ClinGen
ExAC
gnomAD
CA42650387
rs866965172
222 M>V No ClinGen
gnomAD
CA42650391
rs777276949
223 K>I No ClinGen
Ensembl
rs1441681422
CA345892927
224 N>H No ClinGen
gnomAD
CA345892943
rs1305544250
226 A>S No ClinGen
TOPMed
gnomAD
rs781409965
CA1537563
227 L>H No ClinGen
ExAC
gnomAD
rs768639324
CA1537562
227 L>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 229 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs748385724
CA1537564
231 C>S No ClinGen
ExAC
gnomAD
rs1213239069
CA345892989
233 L>F No ClinGen
gnomAD
CA1537565
rs770182865
234 K>R No ClinGen
ExAC
gnomAD
rs781189569
CA1537580
235 N>T No ClinGen
ExAC
gnomAD
CA345893090
rs1269781934
241 N>H No ClinGen
Ensembl
rs770183528
CA1537582
241 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA1537585
rs771440165
243 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA1537586
rs774850505
245 E>D No ClinGen
ExAC
gnomAD
CA1537588
rs760023774
246 E>K No ClinGen
ExAC
gnomAD
CA1537587
rs760023774
246 E>Q No ClinGen
ExAC
gnomAD
CA1537589
rs774909861
249 F>S No ClinGen
ExAC
gnomAD
rs537632009
CA42650568
251 P>A No ClinGen
TOPMed
rs1388696120
CA345893261
251 P>L No ClinGen
gnomAD
CA42650578
rs537632009
251 P>S No ClinGen
TOPMed
CA42650585
rs916125332
254 G>D No ClinGen
Ensembl
CA1537590
rs140834826
255 F>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1287480010
CA345893346
256 V>G No ClinGen
gnomAD
rs753510952
CA1537592
257 A>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs151049117
CA42650603
259 S>P No ClinGen
1000Genomes
CA345893392
rs1414302428
260 K>Q No ClinGen
gnomAD
rs761538583
CA1537593
260 K>R No ClinGen
ExAC
gnomAD
rs750361299
CA1537595
261 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs144722775
CA1537594
261 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1537598
rs575508622
262 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs575508622
CA1537597
262 P>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs749521700
CA1537601
263 D>Y No ClinGen
ExAC
gnomAD
rs1290865594
CA345893494
266 I>L No ClinGen
Ensembl
CA345893502
rs568577067
266 I>N No ClinGen
ExAC
TOPMed
gnomAD
CA1537602
rs568577067
266 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA1537603
rs779201232
267 V>A No ClinGen
ExAC
gnomAD
CA345893531
rs1304384791
268 K>N No ClinGen
gnomAD
CA1537604
rs746361180
271 H>Y No ClinGen
ExAC
gnomAD
rs762841049
CA1537613
273 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA345894016
rs762841049
273 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs958527959
CA42651317
277 V>G No ClinGen
TOPMed
rs1447685055
CA345894049
278 T>I No ClinGen
gnomAD
CA345894050
rs1167920388
279 Q>K No ClinGen
gnomAD
TCGA novel 281 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751531563
CA1537615
281 K>R No ClinGen
ExAC
gnomAD
rs764331933
CA1537617
284 P>S No ClinGen
ExAC
gnomAD
CA345894085
rs764331933
284 P>T No ClinGen
ExAC
gnomAD
CA1537618
rs754095607
285 N>D No ClinGen
ExAC
gnomAD
rs367564124
CA1537619
285 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 286 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1537620
rs199998875
286 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA345894102
rs1433624339
287 P>A No ClinGen
gnomAD
rs746176610
CA1537621
COSM181656
287 P>L large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1237044183
CA345894118
289 A>G No ClinGen
gnomAD
CA345894121
rs1312427926
290 L>V No ClinGen
TOPMed
gnomAD
rs768141062
CA1537625
291 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA345894166
rs1301592031
295 S>F No ClinGen
TOPMed
rs1463608037
CA345894169
296 R>Q No ClinGen
gnomAD
rs146433321
CA1537626
296 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345894238
rs1271731310
301 Q>* No ClinGen
TOPMed
CA1537629
rs547863300
304 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA345894286
rs1376834613
305 N>D No ClinGen
TOPMed
gnomAD
rs766205642
CA1537631
306 I>V No ClinGen
ExAC
gnomAD
CA345894331
rs1385914831
308 Q>E No ClinGen
gnomAD
CA345894343
rs1158501511
309 F>L No ClinGen
TOPMed
gnomAD
rs1456303550
CA345894399
312 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs370508427
CA1537633
313 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1389008261
CA345894424
314 D>N No ClinGen
gnomAD
rs944030023
CA42651436
315 N>S No ClinGen
TOPMed
CA345894521
rs1190941868
319 R>T No ClinGen
TOPMed
rs753554770
CA42655761
321 L>F No ClinGen
Ensembl
rs568982612
CA1537673
322 L>V No ClinGen
1000Genomes
ExAC
gnomAD
rs781623484
CA1537674
326 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA345895315
rs1453220246
329 A>D No ClinGen
TOPMed
rs201761924
CA42655774
330 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1313727702
CA345895318
COSM1325851
330 R>Q ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs201761924
COSM1738714
CA1537675
330 R>W haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1226747930
CA345895335
332 Q>H No ClinGen
TOPMed
gnomAD
CA345895339
rs1312055064
333 L>F No ClinGen
gnomAD
CA1537677
rs148306980
333 L>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs748866077
CA1537678
337 E>A No ClinGen
ExAC
gnomAD
rs778737731
CA1537680
339 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA1537704
rs768599636
340 V>A No ClinGen
ExAC
gnomAD
rs749333619
CA345896205
342 I>K No ClinGen
ExAC
gnomAD
rs749333619
CA1537706
342 I>T No ClinGen
ExAC
gnomAD
CA345896218
rs1218361018
344 V>A No ClinGen
TOPMed
gnomAD
rs1365269588
CA345896215
344 V>L No ClinGen
gnomAD
CA1537708
rs774555403
347 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1266914881
CA345896234
347 P>S No ClinGen
gnomAD
rs1252507841
CA345896257
351 D>N No ClinGen
TOPMed
CA345896291
rs1413066700
356 T>A No ClinGen
TOPMed
gnomAD
rs377091883
CA42658060
360 N>Y No ClinGen
Ensembl
CA345896325
rs1473679630
361 L>S No ClinGen
gnomAD
CA1537712
rs376584969
362 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345896338
rs1388026965
363 Q>R No ClinGen
gnomAD
CA345896356
rs1461994422
366 F>L No ClinGen
gnomAD
CA345896425
rs1344764437
374 G>R No ClinGen
gnomAD
rs772246112
CA1537728
379 G>D No ClinGen
ExAC
gnomAD
CA345896463
rs1251441114
380 Y>C No ClinGen
gnomAD
CA345896494
rs1443182579
384 I>T No ClinGen
TOPMed
gnomAD
CA1537730
rs199675013
387 M>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1245286617
CA345896516
387 M>R No ClinGen
TOPMed
rs983830054
CA42658553
389 N>S No ClinGen
gnomAD
CA345896541
rs1391873446
COSM476055
390 Q>H kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA345896544
rs1283102763
391 I>V No ClinGen
TOPMed
rs764818337
CA1537734
393 Q>* No ClinGen
ExAC
gnomAD
rs1397397612
CA345896567
394 V>A No ClinGen
gnomAD
rs991012234
CA42658616
394 V>L No ClinGen
Ensembl
CA1537735
rs749912888
395 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1430738419
CA345896590
398 G>E No ClinGen
TOPMed
gnomAD
TCGA novel 400 R>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 400 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs146515867
CA1537737
COSM570654
400 R>T lung [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA345896982
rs1208066678
403 V>A No ClinGen
gnomAD
rs1463561551
CA345896975
403 V>M No ClinGen
gnomAD
CA1537754
rs142039776
404 I>M No ClinGen
ESP
ExAC
gnomAD
rs1434703372
CA345896998
405 V>I No ClinGen
gnomAD
CA345897080
rs1472697585
411 H>R No ClinGen
gnomAD
CA345897076
rs1573048857
411 H>Y No ClinGen
Ensembl
rs767307613
CA1537757
414 D>G No ClinGen
ExAC
gnomAD
CA345897119
COSM1007995
rs1385838860
414 D>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA345897131
rs1253937214
415 V>I No ClinGen
TOPMed
CA345897162
rs1388954268
417 K>Q No ClinGen
gnomAD
CA345897183
rs1321951921
418 L>Q No ClinGen
gnomAD
CA345897221
rs1237782286
421 K>E No ClinGen
gnomAD
rs140166845
CA1537762
422 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345897248
rs1327170253
423 M>V No ClinGen
gnomAD
CA345897274
rs1161352665
424 H>R No ClinGen
gnomAD
TCGA novel 426 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345897341
COSM40013
rs1266025847
429 V>I central_nervous_system [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1266025847
CA345897343
429 V>L No ClinGen
gnomAD
TCGA novel 431 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs147728753
CA345897431
435 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1537764
rs147728753
435 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1161011326
CA345897448
436 S>C No ClinGen
TOPMed
gnomAD
rs376947292
CA1537766
437 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs770285687
CA1537768
440 T>S No ClinGen
ExAC
gnomAD
rs1438055578
CA345897509
441 V>L No ClinGen
TOPMed
rs891689465
CA42660136
444 V>L No ClinGen
TOPMed
gnomAD
CA1537772
rs773770521
445 V>I No ClinGen
ExAC
gnomAD
CA42660144
rs1029494543
446 V>A No ClinGen
TOPMed
CA1537775
rs767032016
449 N>H No ClinGen
ExAC
gnomAD
CA1537774
rs767032016
449 N>Y No ClinGen
ExAC
gnomAD
rs1177959325
CA345897619
450 P>T No ClinGen
TOPMed
CA345897631
rs1410750774
451 K>E No ClinGen
TOPMed
gnomAD
CA345897638
rs760398181
451 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs760398181
CA1537776
451 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA1537777
rs763944785
453 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA1537778
rs753763793
454 R>K No ClinGen
ExAC
gnomAD
CA1537779
rs757191221
456 W>R No ClinGen
ExAC
gnomAD
CA42660217
rs1021479352
458 R>G No ClinGen
gnomAD
rs766451073
CA1537780
459 L>H No ClinGen
ExAC
gnomAD
rs751544101
CA1537781
460 G>E No ClinGen
ExAC
gnomAD
CA345897711
rs1467161519
461 K>N No ClinGen
TOPMed
rs1006939598
CA42660228
463 H>R No ClinGen
TOPMed
CA345897728
rs1342620510
464 I>V No ClinGen
gnomAD
CA42660744
rs763790527
467 D>G No ClinGen
Ensembl
rs1558458561
CA345897766
468 D>N No ClinGen
Ensembl
rs767762546
CA1537802
469 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1558458568
CA345897790
471 A>G No ClinGen
Ensembl
rs752942556
CA1537804
472 K>E No ClinGen
ExAC
gnomAD
CA1537805
rs756442471
473 D>G No ClinGen
ExAC
gnomAD
TCGA novel 473 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345897816
rs1259188059
475 T>A No ClinGen
Ensembl
rs1464666031
CA345897818
475 T>I No ClinGen
gnomAD
rs1336126402
CA345897827
476 R>S No ClinGen
gnomAD
CA345897824
rs1270073034
476 R>T No ClinGen
TOPMed
rs749562135
CA1537807
478 G>V No ClinGen
ExAC
gnomAD
TCGA novel 479 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1295264073
CA345897849
480 N>S No ClinGen
gnomAD
CA345897866
rs1573049360
482 P>L No ClinGen
Ensembl
CA1537828
rs752140647
484 M>L No ClinGen
ExAC
gnomAD
rs755375571
CA1537829
485 W>C No ClinGen
ExAC
gnomAD
CA345898119
rs1222834302
486 S>C No ClinGen
gnomAD
rs750873356
CA1537830
488 A>G No ClinGen
ExAC
gnomAD
CA345898151
rs1426536129
489 I>L No ClinGen
TOPMed
CA345898158
rs1190958879
489 I>T No ClinGen
TOPMed
rs1489969037
CA345898173
490 K>T No ClinGen
TOPMed
rs1198973265
CA345898192
491 I>M No ClinGen
gnomAD
CA42662147
rs1042254947
494 G>E No ClinGen
TOPMed
gnomAD
CA345898207
rs1461255538
494 G>R No ClinGen
Ensembl
rs758946709
CA1537831
498 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA1537832
rs758946709
498 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA345898238
rs1166773972
499 R>Q No ClinGen
gnomAD
CA42662178
rs780158807
499 R>W No ClinGen
gnomAD
rs746473980
CA1537833
501 I>M No ClinGen
ExAC
gnomAD
rs371887533
CA1537834
503 E>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780702989
CA1537835
504 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1308316556
CA345898270
504 H>Y No ClinGen
gnomAD
rs1278421903
CA345898292
507 D>N No ClinGen
gnomAD
rs149350581
CA1537838
510 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1357759250
CA345898341
512 F>L No ClinGen
TOPMed
gnomAD
CA42662208
rs868656378
513 C>S No ClinGen
Ensembl
CA1537839
rs200944773
517 I>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA345898415
rs1558459254
517 I>T No ClinGen
Ensembl
CA1537840
rs200944773
517 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 518 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA42662226
rs957929615
521 N>I No ClinGen
gnomAD
TCGA novel 524 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1009005522
CA42668104
524 Q>R No ClinGen
TOPMed
CA345898719
rs1484141914
525 Y>N No ClinGen
gnomAD
rs12995839
CA42668119
528 Q>H No ClinGen
Ensembl
CA1537841
rs774440382
529 Q>K No ClinGen
ExAC
gnomAD
rs767883275
CA42668139
531 G>A No ClinGen
Ensembl
CA345898783
rs1241237908
532 G>A No ClinGen
gnomAD
CA42670234
rs148117214
533 P>R No ClinGen
ESP
TOPMed
TCGA novel 537 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1537858
rs201143228
540 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs770857804
CA1537859
541 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs369671200
CA1537860
542 C>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs745860829
CA345898862
544 C>G No ClinGen
ExAC
TOPMed
gnomAD
CA1537861
rs745860829
544 C>R No ClinGen
ExAC
TOPMed
gnomAD
rs768600120
CA1537862
547 G>A No ClinGen
ExAC
gnomAD
CA345898910
rs1334083526
550 K>N No ClinGen
gnomAD
CA1537864
rs761832183
552 H>P No ClinGen
ExAC
TOPMed
gnomAD
rs1257959426
CA345898974
559 E>G No ClinGen
gnomAD
rs775313016
CA1537883
564 G>E No ClinGen
ExAC
gnomAD
rs530158385
CA1537882
564 G>R No ClinGen
1000Genomes
ExAC
gnomAD
CA42670975
rs1055971691
565 D>Y No ClinGen
TOPMed
rs200312494
CA42670995
566 V>A No ClinGen
1000Genomes
TOPMed
CA345899033
rs1558460406
566 V>I No ClinGen
Ensembl
CA1537884
rs373130115
567 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 567 R>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs769829948
CA1537885
568 F>C No ClinGen
ExAC
gnomAD
rs1477280372
CA345899074
572 T>A No ClinGen
gnomAD
CA42671016
rs146084775
573 D>E No ClinGen
ESP
TOPMed
gnomAD
rs1025093957
CA42671019
574 V>I No ClinGen
TOPMed
rs971214803
CA42671037
581 I>S No ClinGen
TOPMed
rs766697244
CA1537888
582 H>R No ClinGen
ExAC
gnomAD
rs201951630
CA345899145
583 G>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201951630
CA1537890
583 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1014513976
CA42671072
584 V>I No ClinGen
gnomAD
rs1314132812
CA345899196
589 N>S No ClinGen
gnomAD
CA345899200
rs1342555645
590 V>I No ClinGen
gnomAD
rs773905294
CA42671133
591 T>A No ClinGen
Ensembl
rs774565569
CA1537907
593 P>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1537908
rs759875462
594 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA1537909
rs759875462
594 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA1537911
rs761137218
598 N>S No ClinGen
ExAC
gnomAD
rs753361392
CA1537913
600 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA345899280
rs1385040010
602 R>* No ClinGen
gnomAD
rs1385040010
CA345899279
602 R>G No ClinGen
gnomAD
rs1450410081
CA345899281
602 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA42671176
rs930357520
603 I>T No ClinGen
TOPMed
CA345899294
rs1172827467
604 G>D No ClinGen
gnomAD
rs1352970984
CA345899336
611 R>G No ClinGen
TOPMed
gnomAD
CA345899382
rs1193890743
616 I>V No ClinGen
TOPMed
CA345899394
rs1286190727
618 L>M No ClinGen
TOPMed
rs1374820282
CA345899460
626 V>I No ClinGen
gnomAD
TCGA novel 628 Y>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1537953
rs747321017
630 V>A No ClinGen
ExAC
gnomAD
rs1225975665
CA345899493
630 V>I No ClinGen
gnomAD
CA1537954
rs769148712
634 R>C No ClinGen
ExAC
gnomAD
rs777275353
CA1537955
634 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA345899542
rs748713059
637 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA1537956
rs748713059
637 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs772556624
CA1537958
640 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA345899567
rs1175428555
641 T>A No ClinGen
gnomAD
CA42671753
rs1040858885
642 R>G No ClinGen
gnomAD
rs762546378
CA1537959
643 L>R No ClinGen
ExAC
gnomAD
rs1245341922
CA345899587
644 K>R No ClinGen
gnomAD
rs139597816
CA1537960
646 D>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1537961
rs139597816
646 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1537962
rs139597816
646 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345899613
rs1379036033
648 G>D No ClinGen
TOPMed
rs1054962638
CA42671769
650 T>S No ClinGen
TOPMed
gnomAD
CA345899635
rs1573053513
651 I>M No ClinGen
Ensembl
rs1355783107
CA345899630
651 I>V No ClinGen
gnomAD
rs1191353174
CA345899661
655 E>K No ClinGen
TOPMed
rs1448427597
CA345899675
656 M>I No ClinGen
TOPMed
CA345899681
rs1373203879
657 Q>R No ClinGen
gnomAD
rs773858668
CA1537980
661 E>A No ClinGen
ExAC
gnomAD
TCGA novel 663 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs371196534
CA42671983
664 E>D No ClinGen
Ensembl
rs767271793
CA1537982
667 N>K No ClinGen
ExAC
gnomAD
rs1463789788
CA345899769
668 C>S No ClinGen
TOPMed
rs1463789788
CA345899767
668 C>Y No ClinGen
TOPMed
TCGA novel 670 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs146317353
CA1537984
670 I>T No ClinGen
1000Genomes
ExAC
gnomAD
CA1537983
rs775228001
670 I>V No ClinGen
ExAC
gnomAD
TCGA novel 671 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345899788
rs1474818068
671 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA345899798
rs1573053697
673 V>L No ClinGen
Ensembl
CA345899808
rs1429387422
674 E>V No ClinGen
gnomAD
rs753819618
CA1537986
675 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1395854521
CA345899817
676 D>H No ClinGen
gnomAD
CA42672004
rs990384030
677 I>M No ClinGen
Ensembl
rs766539109
CA1537988
677 I>V No ClinGen
ExAC
gnomAD
CA1537989
rs369172740
678 K>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1537990
rs755208682
678 K>R No ClinGen
ExAC
gnomAD
CA1537991
rs547598727
680 P>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1225420700
CA345899872
684 F>S No ClinGen
gnomAD
rs1558460887
CA345899887
686 G>E No ClinGen
Ensembl
rs778134003
CA1537994
687 K>E No ClinGen
ExAC
gnomAD
CA345899919
rs1269140881
691 G>C No ClinGen
TOPMed
gnomAD
CA345899917
rs1269140881
691 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA42672071
rs923271125
693 K>E No ClinGen
Ensembl
rs1334709422
CA345899940
694 R>K No ClinGen
TOPMed
rs1468988945
CA345899990
700 S>N No ClinGen
gnomAD
TCGA novel 700 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs116312370
CA1538010
702 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA42672470
rs866682309
702 K>R No ClinGen
Ensembl
CA1538011
rs778246765
703 G>D No ClinGen
ExAC
gnomAD
rs754266526
CA1538012
706 D>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 707 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1538014
rs779421358
709 A>S No ClinGen
ExAC
gnomAD
CA345900054
rs1410540149
710 P>T No ClinGen
TOPMed
CA1538015
rs745328114
711 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA345900069
rs1333901556
712 V>A No ClinGen
gnomAD
rs139636088
CA1538016
721 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 722 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1538017
rs556029393
722 A>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 723 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768315888
CA1538019
724 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA1538020
rs768315888
724 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA1538022
rs769796012
726 F>C No ClinGen
ExAC
gnomAD
rs1573054079
CA345900163
726 F>L No ClinGen
Ensembl
rs576509752
CA1538023
728 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs759681065
CA1538024
729 L>V No ClinGen
ExAC
gnomAD
rs1239184395
CA345900189
731 Y>H No ClinGen
TOPMed
rs1374443535
CA345900209
734 N>D No ClinGen
TOPMed
rs1187666037
CA345900212
734 N>S No ClinGen
Ensembl
CA345900224
rs1573054123
736 L>M No ClinGen
Ensembl
rs775550327
CA1538026
736 L>P No ClinGen
ExAC
gnomAD
TCGA novel 738 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA42672554
rs537023761
739 T>P No ClinGen
1000Genomes
gnomAD
rs537023761
CA345900244
739 T>S No ClinGen
1000Genomes
gnomAD
rs760995496
CA345900259
741 F>L No ClinGen
ExAC
gnomAD
CA345900258
rs1329519126
741 F>R No ClinGen
TOPMed
CA1538027
rs760995496
741 F>S No ClinGen
ExAC
gnomAD

No associated diseases with Q92499

6 regional properties for Q92499

Type Name Position InterPro Accession
domain Chromo/chromo shadow domain 58 - 111 IPR000953
repeat Ankyrin repeat 572 - 665 IPR002110-1
repeat Ankyrin repeat 666 - 698 IPR002110-2
repeat Ankyrin repeat 699 - 728 IPR002110-3
conserved_site Chromo domain, conserved site 76 - 96 IPR023779
domain Chromo domain 59 - 109 IPR023780

Functions

Description
EC Number 3.6.4.13 Acting on ATP; involved in cellular and subcellular movement
Subcellular Localization
  • Nucleus
  • Cytoplasm
  • Cytoplasmic granule
  • Cytoplasm, cytosol
  • Mitochondrion
  • Localized with MBNL1, TIAL1 and YBX1 in stress granules upon stress
  • Localized with CSTF2 in cleavage bodies
  • Forms large aggregates called DDX1 bodies
  • Relocalized into multiple foci (IR-induced foci or IRIF) after IR treatment, a process that depends on the presence of chromosomal DNA and/or RNA-DNA duplexes
  • Relocalized at sites of DNA double-strand breaks (DSBs) in an ATM-dependent manner after IR treatment
  • Colocalized with RELA in the nucleus upon TNF-alpha induction
  • Enters into the nucleus in case of active transcription while it accumulates in cytosol when transcription level is low (PubMed:24608264)
  • Colocalizes in the cytosol with DDX21, DHX36 and TICAM1
  • Colocalizes in the mitochondria with TICAM1 and poly(I:C) RNA ligand
  • The multi-helicase-TICAM1 complex may translocate to the mitochondria upon poly(I:C) stimulation (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

10 GO annotations of cellular component

Name Definition
cleavage body A nuclear body that contains proteins involved in pre-mRNA 3'-end cleavage and polyadenylation, such as DDX1, CSTF2 and CPSFs, as well as the transcription factors TFIIE and TFIIF. Cleavage bodies are localized adjacent to Cajal bodies and are involved in mRNA3'-end processing.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic stress granule A dense aggregation in the cytosol composed of proteins and RNAs that appear when the cell is under stress.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
mitochondrion A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
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.
ribonucleoprotein complex A macromolecular complex that contains both RNA and protein molecules.
tRNA-splicing ligase complex A protein complex that catalyzes the ligation of cleaved pre-tRNAs by directly joining spliced tRNA halves to mature-sized tRNAs by incorporating the precursor-derived splice junction phosphate into the mature tRNA as a canonical 3',5'-phosphodiester.

12 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
chromatin binding Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA/RNA helicase activity Unwinding of a DNA/RNA duplex, i.e. a double helix in which a strand of DNA pairs with a complementary strand of RNA, driven by ATP hydrolysis.
double-stranded RNA binding Binding to double-stranded RNA.
exonuclease activity Catalysis of the hydrolysis of ester linkages within nucleic acids by removing nucleotide residues from the 3' or 5' end.
nuclease activity Catalysis of the hydrolysis of ester linkages within nucleic acids.
poly(A) binding Binding to a sequence of adenylyl residues in an RNA molecule, such as the poly(A) tail, a sequence of adenylyl residues at the 3' end of eukaryotic mRNA.
RNA binding Binding to an RNA molecule or a portion thereof.
RNA helicase activity Unwinding of an RNA helix, driven by ATP hydrolysis.
transcription coregulator activity A transcription regulator activity that modulates the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coregulators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators.

12 GO annotations of biological process

Name Definition
defense response to virus Reactions triggered in response to the presence of a virus that act to protect the cell or organism.
DNA duplex unwinding The process in which interchain hydrogen bonds between two strands of DNA are broken or 'melted', generating a region of unpaired single strands.
double-strand break repair The repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix.
innate immune response Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
nucleic acid phosphodiester bond hydrolysis The nucleic acid metabolic process in which the phosphodiester bonds between nucleotides are cleaved by hydrolysis.
positive regulation of I-kappaB kinase/NF-kappaB signaling Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling.
positive regulation of myeloid dendritic cell cytokine production Any process that activates or increases the frequency, rate, or extent of myeloid dendritic cell cytokine production.
protein localization to cytoplasmic stress granule A process in which a protein is transported to, or maintained in, a location within a cytoplasmic stress granule.
regulation of translational initiation Any process that modulates the frequency, rate or extent of translational initiation.
response to exogenous dsRNA Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an exogenous double-stranded RNA stimulus.
spliceosomal complex assembly The aggregation, arrangement and bonding together of a spliceosomal complex, a ribonucleoprotein apparatus that catalyzes nuclear mRNA splicing via transesterification reactions.
tRNA splicing, via endonucleolytic cleavage and ligation Splicing of tRNA substrates via recognition of the folded RNA structure that brings the 5' and 3' splice sites into proximity and cleavage of the RNA at both the 3' and 5' splice sites by an endonucleolytic mechanism, followed by ligation of the exons.

15 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q0IIK5 DDX1 ATP-dependent RNA helicase DDX1 Bos taurus (Bovine) PR
Q90WU3 DDX1 ATP-dependent RNA helicase DDX1 Gallus gallus (Chicken) PR
Q8NHQ9 DDX55 ATP-dependent RNA helicase DDX55 Homo sapiens (Human) PR
P60842 EIF4A1 Eukaryotic initiation factor 4A-I Homo sapiens (Human) PR
Q14240 EIF4A2 Eukaryotic initiation factor 4A-II Homo sapiens (Human) PR
Q9Y6V7 DDX49 Probable ATP-dependent RNA helicase DDX49 Homo sapiens (Human) PR
Q9H0S4 DDX47 Probable ATP-dependent RNA helicase DDX47 Homo sapiens (Human) PR
Q8TDD1 DDX54 ATP-dependent RNA helicase DDX54 Homo sapiens (Human) PR
Q9GZR7 DDX24 ATP-dependent RNA helicase DDX24 Homo sapiens (Human) PR
Q9NY93 DDX56 Probable ATP-dependent RNA helicase DDX56 Homo sapiens (Human) PR
Q9NUL7 DDX28 Probable ATP-dependent RNA helicase DDX28 Homo sapiens (Human) PR
Q7L014 DDX46 Probable ATP-dependent RNA helicase DDX46 Homo sapiens (Human) PR
Q91VR5 Ddx1 ATP-dependent RNA helicase DDX1 Mus musculus (Mouse) PR
Q641Y8 Ddx1 ATP-dependent RNA helicase DDX1 Rattus norvegicus (Rat) PR
Q5XH91 ddx1 ATP-dependent RNA helicase DDX1 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
10 20 30 40 50 60
MAAFSEMGVM PEIAQAVEEM DWLLPTDIQA ESIPLILGGG DVLMAAETGS GKTGAFSIPV
70 80 90 100 110 120
IQIVYETLKD QQEGKKGKTT IKTGASVLNK WQMNPYDRGS AFAIGSDGLC CQSREVKEWH
130 140 150 160 170 180
GCRATKGLMK GKHYYEVSCH DQGLCRVGWS TMQASLDLGT DKFGFGFGGT GKKSHNKQFD
190 200 210 220 230 240
NYGEEFTMHD TIGCYLDIDK GHVKFSKNGK DLGLAFEIPP HMKNQALFPA CVLKNAELKF
250 260 270 280 290 300
NFGEEEFKFP PKDGFVALSK APDGYIVKSQ HSGNAQVTQT KFLPNAPKAL IVEPSRELAE
310 320 330 340 350 360
QTLNNIKQFK KYIDNPKLRE LLIIGGVAAR DQLSVLENGV DIVVGTPGRL DDLVSTGKLN
370 380 390 400 410 420
LSQVRFLVLD EADGLLSQGY SDFINRMHNQ IPQVTSDGKR LQVIVCSATL HSFDVKKLSE
430 440 450 460 470 480
KIMHFPTWVD LKGEDSVPDT VHHVVVPVNP KTDRLWERLG KSHIRTDDVH AKDNTRPGAN
490 500 510 520 530 540
SPEMWSEAIK ILKGEYAVRA IKEHKMDQAI IFCRTKIDCD NLEQYFIQQG GGPDKKGHQF
550 560 570 580 590 600
SCVCLHGDRK PHERKQNLER FKKGDVRFLI CTDVAARGID IHGVPYVINV TLPDEKQNYV
610 620 630 640 650 660
HRIGRVGRAE RMGLAISLVA TEKEKVWYHV CSSRGKGCYN TRLKEDGGCT IWYNEMQLLS
670 680 690 700 710 720
EIEEHLNCTI SQVEPDIKVP VDEFDGKVTY GQKRAAGGGS YKGHVDILAP TVQELAALEK
730
EAQTSFLHLG YLPNQLFRTF