Descriptions

Transcription factors of the interferon regulatory factor (IRF) family have been identified as critical mediators of early inflammatory gene transcription in infected cells. IRF-5 serves as a direct transducer of virus-mediated signaling. Deletion of C-terminal autoinhibitory region turns IRF5 into an active form.

Autoinhibitory domains (AIDs)

Target domain

10-123 (DNA-binding domain)

Relief mechanism

PTM

Assay

Deletion assay, Mutagenesis experiment

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

2 structures for Q13568

Entry ID Method Resolution Chain Position Source
3DSH X-ray 200 A A 232-477 PDB
AF-Q13568-F1 Predicted AlphaFoldDB

321 variants for Q13568

Variant ID(s) Position Change Description Diseaes Association Provenance
rs761713287
CA4477384
5 I>T No ClinGen
ExAC
gnomAD
rs148928811
CA4477385
6 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1470509293
CA369228069
7 V>A No ClinGen
gnomAD
CA4477386
rs750224674
10 T>P No ClinGen
ExAC
gnomAD
rs1326907688
CA369228138
10 T>S No ClinGen
gnomAD
CA166227784
rs760492792
11 P>A No ClinGen
ExAC
gnomAD
rs200486000
CA166227793
11 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA4477389
rs200486000
11 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs200486000
CA4477388
11 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA4477387
rs760492792
11 P>S No ClinGen
ExAC
gnomAD
rs752820843
CA4477393
12 P>L No ClinGen
ExAC
gnomAD
rs374100066
CA4477392
12 P>S No ClinGen
ESP
ExAC
gnomAD
CA166227818
rs372781024
13 R>C No ClinGen
TOPMed
gnomAD
rs372781024
CA166227815
13 R>G No ClinGen
TOPMed
gnomAD
CA4477394
rs367931039
13 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs367931039
CA369228224
13 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA166227826
rs887623136
14 R>H No ClinGen
TOPMed
gnomAD
CA369228251
rs887623136
14 R>P No ClinGen
TOPMed
gnomAD
CA4477396
rs142800920
15 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA369228303
rs1292749792
16 R>Q No ClinGen
gnomAD
CA369228289
rs757578104
16 R>W No ClinGen
ExAC
gnomAD
CA369228443
rs1585294296
22 V>G No ClinGen
Ensembl
rs1585294317
CA369228496
24 Q>P No ClinGen
Ensembl
CA369228535
rs1276578665
25 V>A No ClinGen
gnomAD
CA369228577
rs1585294348
27 S>T No ClinGen
Ensembl
rs1181002220
CA369228596
28 C>R No ClinGen
gnomAD
rs748883758
CA369228606
28 C>S No ClinGen
ExAC
TOPMed
gnomAD
rs748883758
CA4477399
28 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1585294376
CA369228654
30 Y>H No ClinGen
Ensembl
rs1030539169
CA166227852
35 W>C No ClinGen
Ensembl
rs151211302
CA166227848
35 W>R No ClinGen
ESP
CA369228858
rs1585294415
36 V>G No ClinGen
Ensembl
rs773798984
CA4477401
36 V>I No ClinGen
ExAC
gnomAD
rs1322489944
CA369228880
37 N>D No ClinGen
TOPMed
gnomAD
CA369228912
rs140402357
37 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4477405
rs548286958
CA4477403
38 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs548286958
CA4477404
38 G>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1221498708
CA369228976
39 E>D No ClinGen
gnomAD
CA4477406
rs780812353
40 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs777003579
CA4477407
41 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA369229249
rs1454617138
47 W>* No ClinGen
gnomAD
CA369229223
rs1334561980
47 W>* No ClinGen
gnomAD
rs865918118
CA166227903
50 A>T No ClinGen
Ensembl
CA166227913
rs558349156
56 S>R No ClinGen
Ensembl
rs764541149
CA4477412
58 D>H No ClinGen
ExAC
gnomAD
CA4477414
rs371958768
59 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4477415
rs201487893
60 D>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA369229613
rs1444108237
61 N>D No ClinGen
gnomAD
rs777397050
CA4477441
66 A>S No ClinGen
ExAC
gnomAD
CA4477442
rs746489290
70 E>K No ClinGen
ExAC
gnomAD
rs1161364866
CA369231526
74 Y>* No ClinGen
gnomAD
CA4477445
rs745693125
76 E>K No ClinGen
ExAC
gnomAD
rs775591029
CA4477447
78 V>M No ClinGen
ExAC
gnomAD
CA166229962
rs751739762
79 D>V No ClinGen
Ensembl
CA369231704
rs1378246188
82 D>N No ClinGen
TOPMed
CA4477450
rs774453718
83 P>L No ClinGen
ExAC
gnomAD
CA369231761
rs1214870597
84 A>T No ClinGen
Ensembl
rs1307003258
CA369231836
86 W>* No ClinGen
gnomAD
rs1334689817
CA369231842
86 W>C No ClinGen
gnomAD
rs1436935701
CA369231918
93 A>T No ClinGen
TOPMed
rs1299095250
CA369231957
97 S>T No ClinGen
TOPMed
gnomAD
rs750886286
CA4477453
98 R>Q No ClinGen
ExAC
gnomAD
rs761029569
CA4477454
99 D>N No ClinGen
ExAC
gnomAD
rs1458005638
CA369232021
101 R>C No ClinGen
TOPMed
CA4477455
rs766706257
101 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA4477457
rs758112859
103 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs751140082
CA4477459
105 D>H No ClinGen
ExAC
gnomAD
CA4477463
rs769606450
108 R>Q No ClinGen
ExAC
gnomAD
rs745742459
CA4477462
108 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs779968332
CA369232189
110 M>K No ClinGen
ExAC
TOPMed
gnomAD
rs779968332
CA4477464
110 M>R No ClinGen
ExAC
TOPMed
gnomAD
CA369232173
rs1463424335
110 M>V No ClinGen
gnomAD
rs749003004
CA4477465
114 P>L No ClinGen
ExAC
gnomAD
CA369232265
rs1395745193
114 P>S No ClinGen
gnomAD
rs928578383
CA166230068
120 V>F No ClinGen
TOPMed
gnomAD
CA369232378
rs928578383
120 V>I No ClinGen
TOPMed
gnomAD
rs748258245
CA4477468
122 S>C No ClinGen
ExAC
gnomAD
CA4477470
rs773718383
123 N>S No ClinGen
ExAC
gnomAD
rs1321363449
CA369232462
124 G>S No ClinGen
TOPMed
rs1480615573
CA369232471
124 G>V No ClinGen
gnomAD
rs1342218209
CA369232479
125 P>L No ClinGen
gnomAD
rs1196812486
CA369232497
127 P>S No ClinGen
gnomAD
CA369232593
rs1487008870
130 S>Y No ClinGen
gnomAD
rs1186878831
CA369232613
131 Q>L No ClinGen
gnomAD
rs749129718
CA369232622
132 P>A No ClinGen
ExAC
gnomAD
rs749129718
CA4477483
132 P>S No ClinGen
ExAC
gnomAD
rs749129718
CA4477482
132 P>T No ClinGen
ExAC
gnomAD
rs779108354
CA4477484
133 P>S No ClinGen
ExAC
gnomAD
rs1429320460
CA369232672
135 D>Y No ClinGen
TOPMed
gnomAD
CA369232706
rs1452298748
137 S>A No ClinGen
TOPMed
rs1173395501
CA369232712
137 S>F No ClinGen
gnomAD
rs943756715
CA166230436
138 F>Y No ClinGen
TOPMed
CA4477486
rs772266449
141 G>R No ClinGen
ExAC
gnomAD
CA369232823
rs1203783371
142 E>D No ClinGen
gnomAD
CA4477488
rs773344520
143 E>G No ClinGen
ExAC
gnomAD
CA369232855
rs1161955438
144 E>A No ClinGen
TOPMed
rs747040494
CA4477490
144 E>K No ClinGen
ExAC
gnomAD
CA166230453
rs371335617
147 E>D No ClinGen
ESP
TOPMed
gnomAD
CA4477511
rs746421090
150 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA369235076
rs1159405444
150 L>V No ClinGen
TOPMed
gnomAD
CA369235204
rs770420647
CA4477512
153 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA369235307
rs1366590423
156 S>N No ClinGen
gnomAD
CA4477514
rs763385119
158 S>R No ClinGen
ExAC
gnomAD
rs375199151
CA4477515
159 L>F No ClinGen
ESP
ExAC
gnomAD
CA4477516
rs772699436
160 T>I No ClinGen
ExAC
gnomAD
CA4477560
rs370799034
164 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374213013
CA4477562
165 W>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764065524
CA4477567
166 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA4477569
rs761623021
167 P>L No ClinGen
ExAC
gnomAD
CA369236474
rs1332385774
168 T>A No ClinGen
TOPMed
CA166231083
rs566635242
170 Q>R No ClinGen
1000Genomes
TOPMed
rs767661654
CA4477577
171 P>L No ClinGen
ExAC
gnomAD
RCV000947069
rs60344245
175 R>missing No ClinVar
dbSNP
rs113806178
CA369236677
175 R>L No ClinGen
1000Genomes
TOPMed
gnomAD
rs113806178
CA4477582
175 R>Q No ClinGen
1000Genomes
TOPMed
gnomAD
CA369236672
rs1175572430
175 R>W No ClinGen
TOPMed
gnomAD
CA4477585
rs750603767
176 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1467003035
CA369236706
177 P>H No ClinGen
TOPMed
CA369236716
rs1252861392
178 T>A No ClinGen
TOPMed
rs1284336147
CA369236743
181 P>L No ClinGen
gnomAD
CA4477593
rs753962224
183 T>I No ClinGen
ExAC
TOPMed
rs2935017
CA166231173
185 Q>R No ClinGen
TOPMed
CA4477594
rs367880963
186 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1266698537
CA369236767
186 P>T No ClinGen
gnomAD
rs1364599747
CA369236774
187 P>S No ClinGen
gnomAD
rs371725551
CA4477598
188 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4477597
rs371725551
188 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA369236797
rs1010959827
191 G>A No ClinGen
TOPMed
gnomAD
CA166231198
rs1010959827
191 G>V No ClinGen
TOPMed
gnomAD
CA4477599
rs201659973
192 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1292846432
CA369236800
192 P>S No ClinGen
gnomAD
CA369236807
rs1375617948
193 P>L No ClinGen
gnomAD
CA4477600
rs201243166
193 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4477601
rs368724832
194 A>S No ClinGen
ESP
ExAC
gnomAD
rs1362066496
CA369236817
195 P>L No ClinGen
gnomAD
rs748777671
CA4477602
195 P>S No ClinGen
ExAC
gnomAD
CA369236821
rs1408977255
196 D>A No ClinGen
TOPMed
CA369236818
rs1396921221
196 D>N No ClinGen
TOPMed
CA369236826
rs1265344093
197 P>T No ClinGen
gnomAD
rs372467866
CA4477603
198 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1197619100
CA369236835
198 S>T No ClinGen
gnomAD
CA369236841
rs1238880986
199 P>S No ClinGen
gnomAD
CA369236854
rs556267493
201 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA369236851
rs1177039921
201 A>T No ClinGen
gnomAD
rs556267493
CA4477604
201 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4477606
rs767281005
202 P>L No ClinGen
ExAC
gnomAD
CA4477605
rs761515288
202 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA369236860
rs1366631451
203 P>A No ClinGen
gnomAD
rs1366631451
CA369236861
203 P>S No ClinGen
gnomAD
rs200860703
CA4477607
204 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1398955976
CA369236869
204 P>L No ClinGen
gnomAD
rs200860703
CA369236865
204 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA369236870
rs1444053978
205 G>S No ClinGen
gnomAD
rs1468801017
CA369236882
206 N>K No ClinGen
TOPMed
rs1585306955
CA369236880
206 N>T No ClinGen
Ensembl
CA369236884
rs1338265590
207 P>T No ClinGen
gnomAD
rs761045410
CA4477608
209 G>D No ClinGen
ExAC
gnomAD
CA369236923
rs368258981
212 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4477610
rs754018091
213 L>I No ClinGen
ExAC
gnomAD
rs765669086
CA4477612
217 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA369236949
rs765669086
217 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA166231293
rs866348379
219 E>* No ClinGen
Ensembl
CA4477613
rs753191121
219 E>D No ClinGen
ExAC
gnomAD
CA369236966
rs1253823650
220 P>T No ClinGen
gnomAD
rs904357361
CA166231297
223 L>P No ClinGen
TOPMed
gnomAD
rs1221511791
CA369236987
224 P>A No ClinGen
TOPMed
CA369236988
rs1221511791
224 P>S No ClinGen
TOPMed
rs1585307135
CA369236993
225 A>T No ClinGen
Ensembl
rs145868185
CA4477614
225 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA369237000
rs1284381208
226 S>G No ClinGen
TOPMed
CA369237013
rs1406341251
228 P>S No ClinGen
gnomAD
CA369237011
rs1406341251
228 P>T No ClinGen
gnomAD
CA4477618
rs779635934
229 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs554490940
CA4477617
229 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4477619
rs748782161
230 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA369237021
rs1307388841
230 A>T No ClinGen
Ensembl
CA369237024
rs748782161
230 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1279366922
CA369237029
231 G>D No ClinGen
gnomAD
CA369237038
rs1265090041
232 E>D No ClinGen
gnomAD
rs778726588
CA4477621
232 E>K No ClinGen
ExAC
gnomAD
rs1027912590
CA166231338
233 Q>E No ClinGen
gnomAD
rs748171902
CA4477622
236 P>S No ClinGen
ExAC
gnomAD
rs760523827
CA4477625
242 P>H No ClinGen
ExAC
gnomAD
rs572647299
CA4477626
243 H>N No ClinGen
1000Genomes
ExAC
gnomAD
CA369237205
rs1476834253
244 M>I No ClinGen
gnomAD
rs965400346
CA166231396
244 M>V No ClinGen
TOPMed
gnomAD
rs776950755
CA369237238
247 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1308209829
CA369237354
250 L>P No ClinGen
gnomAD
rs772184409
CA4477643
253 K>N No ClinGen
ExAC
gnomAD
rs747580155
CA4477642
253 K>R No ClinGen
ExAC
gnomAD
CA369237467
rs1266492925
257 R>W No ClinGen
gnomAD
rs1409303747
CA369237479
258 G>R No ClinGen
TOPMed
rs538018492
CA166231648
259 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs538018492
CA4477644
259 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1457899008
CA369237514
260 P>L No ClinGen
TOPMed
gnomAD
CA166231664
rs770794321
262 R>L No ClinGen
ExAC
gnomAD
CA4477646
rs770794321
262 R>Q No ClinGen
ExAC
gnomAD
rs746828797
CA4477645
262 R>W No ClinGen
ExAC
gnomAD
rs984670222
CA166231681
266 I>N No ClinGen
TOPMed
CA4477648
rs149233628
268 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1418754603
CA369237682
270 H>L No ClinGen
gnomAD
CA369237687
rs1405306619
270 H>Q No ClinGen
gnomAD
rs769876611
CA4477649
270 H>Y No ClinGen
ExAC
gnomAD
rs775692797
CA4477650
273 R>L No ClinGen
ExAC
gnomAD
rs764619615
CA4477652
278 Q>P No ClinGen
ExAC
gnomAD
rs751999369
CA4477653
279 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs1226564674
CA369237827
281 A>D No ClinGen
gnomAD
rs767924203
CA166231774
283 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA369237861
rs1264251096
284 E>A No ClinGen
TOPMed
rs1365703320
CA369237855
284 E>K No ClinGen
TOPMed
gnomAD
rs1197502142
CA369237878
285 Q>H No ClinGen
gnomAD
rs1585308306
CA369237890
286 V>G No ClinGen
Ensembl
CA4477657
rs750746175
286 V>M No ClinGen
ExAC
gnomAD
rs1423596481
CA369237964
292 I>K No ClinGen
gnomAD
rs754695057
CA4477658
293 S>I No ClinGen
ExAC
gnomAD
rs1472734719
CA369237998
295 E>K No ClinGen
gnomAD
CA369238016
rs1321467367
296 Q>E No ClinGen
TOPMed
CA4477661
rs757940206
298 R>C No ClinGen
ExAC
gnomAD
rs144448991
CA4477662
298 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs745628783
CA4477666
304 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs781081333
CA4477665
304 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA4477668
rs775538341
309 K>R No ClinGen
ExAC
gnomAD
rs368255860
CA4477669
311 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs866301843
CA166231820
311 R>S No ClinGen
Ensembl
CA369238235
rs1467820609
312 F>C No ClinGen
TOPMed
rs1279982666
CA369238265
314 T>M No ClinGen
gnomAD
rs1159471524
CA369238284
316 Q>* No ClinGen
TOPMed
rs1053330362
CA166231833
319 D>N No ClinGen
TOPMed
gnomAD
rs1325165297
CA369238332
320 V>F No ClinGen
TOPMed
gnomAD
CA166231838
rs777216993
323 R>C No ClinGen
gnomAD
rs762371242
CA4477672
324 G>R No ClinGen
ExAC
gnomAD
CA369238418
rs1265972336
330 Q>L No ClinGen
gnomAD
CA369238428
rs1243979492
331 G>S No ClinGen
gnomAD
CA369238464
rs1244343589
333 D>G No ClinGen
TOPMed
CA4477675
rs767365191
338 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA4477677
rs752223694
338 R>H No ClinGen
ExAC
gnomAD
CA4477676
rs767365191
338 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA369238599
rs1563078240
342 C>Y No ClinGen
Ensembl
CA369238671
rs1484834772
345 F>Y No ClinGen
TOPMed
gnomAD
CA166231880
rs944583782
346 W>R No ClinGen
TOPMed
rs556983422
CA166231889
347 S>N No ClinGen
gnomAD
CA369238794
rs1383231055
350 C>F No ClinGen
TOPMed
CA369238874
rs1412540759
354 H>L No ClinGen
gnomAD
CA4477680
rs751082848
355 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA4477681
rs757314255
360 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs745711094
CA4477683
363 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs780339569
CA4477685
365 V>G No ClinGen
ExAC
gnomAD
CA369239241
rs1209164836
370 F>L No ClinGen
gnomAD
CA369239339
rs1216544451
373 E>V No ClinGen
gnomAD
CA369239439
rs1439528024
377 N>S No ClinGen
TOPMed
rs766593500
CA4477694
380 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs763816650
CA4477697
383 Q>K No ClinGen
ExAC
gnomAD
rs1296163261
CA369239618
384 K>Q No ClinGen
TOPMed
CA4477698
rs751137748
386 Q>H No ClinGen
ExAC
CA4477699
rs761192295
387 T>A No ClinGen
ExAC
gnomAD
CA4477700
rs554813398
389 T>I No ClinGen
1000Genomes
ExAC
gnomAD
rs750273513
CA4477701
390 P>L No ClinGen
ExAC
gnomAD
CA369239697
rs1458362719
390 P>S No ClinGen
gnomAD
rs1387973474
CA369239717
391 P>L No ClinGen
TOPMed
gnomAD
rs1448410615
CA369239723
392 P>A No ClinGen
gnomAD
rs993891504
CA166232083
392 P>H No ClinGen
Ensembl
rs756068460
CA369239749
CA369239747
393 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA369239760
rs1424905278
394 E>K No ClinGen
TOPMed
rs576256045
CA4477705
396 F>I No ClinGen
1000Genomes
ExAC
gnomAD
CA166232103
rs866806873
400 G>E No ClinGen
Ensembl
rs369114262
CA4477706
406 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4477707
rs201569154
406 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1382042040
CA369240025
408 P>S No ClinGen
gnomAD
CA4477709
rs771977004
409 R>* No ClinGen
ExAC
gnomAD
CA4477710
rs565075578
409 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA369240048
rs1450583194
410 E>K No ClinGen
TOPMed
gnomAD
CA369240051
rs1450583194
410 E>Q No ClinGen
TOPMed
gnomAD
CA4477711
rs747537470
411 K>R No ClinGen
ExAC
gnomAD
rs777185406
CA4477713
412 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA369240153
rs1585309647
414 I>M No ClinGen
Ensembl
CA369240146
rs1366684252
414 I>T No ClinGen
gnomAD
rs774084347
CA4477716
416 V>E No ClinGen
ExAC
gnomAD
rs960473207
CA166232156
417 Q>* No ClinGen
TOPMed
gnomAD
rs1277928197
CA369240401
418 V>M No ClinGen
gnomAD
CA369240419
rs1489207255
419 V>M No ClinGen
gnomAD
CA369240447
rs1217274308
421 V>I No ClinGen
gnomAD
rs1262448956
CA369240468
422 A>E No ClinGen
gnomAD
CA4477737
rs775986353
424 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs1192495423
CA369240495
424 R>Q No ClinGen
gnomAD
rs547434560
CA4477738
429 M>L No ClinGen
1000Genomes
ExAC
gnomAD
CA4477739
rs547434560
429 M>V No ClinGen
1000Genomes
ExAC
gnomAD
rs760179831
CA4477741
435 S>F No ClinGen
ExAC
gnomAD
CA166232420
rs921773705
436 W>C No ClinGen
TOPMed
gnomAD
rs1233004578
CA369240762
441 I>T No ClinGen
Ensembl
rs766331114
CA4477742
441 I>V No ClinGen
ExAC
gnomAD
rs1368490077
CA369240771
442 R>G No ClinGen
TOPMed
gnomAD
rs199556554
CA4477744
442 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA369240772
rs1368490077
442 R>W No ClinGen
TOPMed
gnomAD
rs112815033
CA166232436
450 L>P No ClinGen
Ensembl
CA4477747
rs201822184
453 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4477748
rs200918740
453 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA369240955
rs200918740
453 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs751622444
CA4477749
454 M>T No ClinGen
ExAC
gnomAD
rs1441920448
CA369241025
462 H>L No ClinGen
gnomAD
rs1239660357
CA369241024
462 H>Y No ClinGen
gnomAD
rs781768972
CA4477751
464 I>F No ClinGen
ExAC
gnomAD
rs1407817094
CA369241056
466 Q>P No ClinGen
gnomAD
rs1471165643
CA369241068
468 Q>* No ClinGen
gnomAD
CA369241084
rs1166950093
470 R>Q No ClinGen
TOPMed
gnomAD
CA4477752
rs537292247
470 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4477753
rs146164429
473 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780602210
CA4477754
474 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA4477755
rs749639613
475 A>D No ClinGen
ExAC
gnomAD
CA369241142
rs1447512794
476 Q>E No ClinGen
TOPMed
CA369241146
rs1563079290
476 Q>L No ClinGen
Ensembl
CA369241185
rs1289917787
478 P>L No ClinGen
gnomAD
CA4477757
rs772876537
478 P>S No ClinGen
ExAC
gnomAD
rs1320573560
CA369241196
479 P>L No ClinGen
gnomAD
rs746504982
CA4477759
483 L>F No ClinGen
ExAC
gnomAD
rs1232692954
CA369241290
486 G>A No ClinGen
gnomAD
RCV000970179
rs145965576
CA4477761
486 G>S No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1380599805
CA369241388
490 W>* No ClinGen
TOPMed
CA166232500
rs976049209
493 H>P No ClinGen
Ensembl
rs1415206663
CA369241472
493 H>Y No ClinGen
gnomAD
CA369241549
rs1460981740
496 G>V No ClinGen
gnomAD
rs759535681
CA4477763
497 M>T No ClinGen
ExAC
gnomAD

No associated diseases with Q13568

4 regional properties for Q13568

Type Name Position InterPro Accession
domain Protein kinase domain 186 - 448 IPR000719
domain AGC-kinase, C-terminal 449 - 528 IPR000961
domain RGS domain 52 - 171 IPR016137
binding_site Protein kinase, ATP binding site 192 - 224 IPR017441

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Nucleus
  • Shuttles between the nucleus and the cytoplasm: upon activation by the TLR adapter MYD88 and subsequent phosphorylation, translocates to the nucleus
PANTHER Family PTHR11949 INTERFERON REGULATORY FACTOR
PANTHER Subfamily PTHR11949:SF10 INTERFERON REGULATORY FACTOR 5
PANTHER Protein Class DNA-binding transcription factor
helix-turn-helix transcription factor
winged helix/forkhead transcription factor
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
chromatin The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
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.
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.

7 GO annotations of molecular function

Name Definition
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.
identical protein binding Binding to an identical protein or proteins.
protein kinase binding Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
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 DNA binding Binding to 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.
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.

16 GO annotations of biological process

Name Definition
cellular response to virus 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 stimulus from a virus.
cytokine-mediated signaling pathway The series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
defense response to virus Reactions triggered in response to the presence of a virus that act to protect the cell or organism.
immune system process Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats.
inflammatory response The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
innate immune response Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
positive regulation of apoptotic process Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process.
positive regulation of cytokine production involved in immune response Any process that activates or increases the frequency, rate, or extent of cytokine production that contributes to an immune response.
positive regulation of interferon-alpha production Any process that activates or increases the frequency, rate, or extent of interferon-alpha production.
positive regulation of interferon-beta production Any process that activates or increases the frequency, rate, or extent of interferon-beta production.
positive regulation of interleukin-12 production Any process that activates or increases the frequency, rate, or extent of interleukin-12 production.
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.
positive regulation of type I interferon production Any process that activates or increases the frequency, rate, or extent of type I interferon production. Type I interferons include the interferon-alpha, beta, delta, episilon, zeta, kappa, tau, and omega gene families.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
response to muramyl dipeptide Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a muramyl dipeptide stimulus. Muramyl dipeptide is derived from peptidoglycan.
response to peptidoglycan Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptidoglycan stimulus. Peptidoglycan is a bacterial cell wall macromolecule.

7 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q58DJ0 IRF5 Interferon regulatory factor 5 Bos taurus (Bovine) SS
Q00978 IRF9 Interferon regulatory factor 9 Homo sapiens (Human) PR
Q15306 IRF4 Interferon regulatory factor 4 Homo sapiens (Human) SS
Q14653 IRF3 Interferon regulatory factor 3 Homo sapiens (Human) EV
Q92985 IRF7 Interferon regulatory factor 7 Homo sapiens (Human) EV
Q02556 IRF8 Interferon regulatory factor 8 Homo sapiens (Human) PR
P56477 Irf5 Interferon regulatory factor 5 Mus musculus (Mouse) SS
10 20 30 40 50 60
MNQSIPVAPT PPRRVRLKPW LVAQVNSCQY PGLQWVNGEK KLFCIPWRHA TRHGPSQDGD
70 80 90 100 110 120
NTIFKAWAKE TGKYTEGVDE ADPAKWKANL RCALNKSRDF RLIYDGPRDM PPQPYKIYEV
130 140 150 160 170 180
CSNGPAPTDS QPPEDYSFGA GEEEEEEEEL QRMLPSLSLT EDVKWPPTLQ PPTLRPPTLQ
190 200 210 220 230 240
PPTLQPPVVL GPPAPDPSPL APPPGNPAGF RELLSEVLEP GPLPASLPPA GEQLLPDLLI
250 260 270 280 290 300
SPHMLPLTDL EIKFQYRGRP PRALTISNPH GCRLFYSQLE ATQEQVELFG PISLEQVRFP
310 320 330 340 350 360
SPEDIPSDKQ RFYTNQLLDV LDRGLILQLQ GQDLYAIRLC QCKVFWSGPC ASAHDSCPNP
370 380 390 400 410 420
IQREVKTKLF SLEHFLNELI LFQKGQTNTP PPFEIFFCFG EEWPDRKPRE KKLITVQVVP
430 440 450 460 470 480
VAARLLLEMF SGELSWSADS IRLQISNPDL KDRMVEQFKE LHHIWQSQQR LQPVAQAPPG
490
AGLGVGQGPW PMHPAGMQ