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

5 structures for Q9H074

Entry ID Method Resolution Chain Position Source
1JH4 NMR - B 123-144 PDB
3NTW X-ray 260 A B/D 123-144 PDB
3RK6 X-ray 200 A A/B 157-373 PDB
6YXJ X-ray 350 A B 157-375 PDB
AF-Q9H074-F1 Predicted AlphaFoldDB

336 variants for Q9H074

Variant ID(s) Position Change Description Diseaes Association Provenance
CA3257581
rs566674929
2 S>A No ClinGen
1000Genomes
ExAC
gnomAD
CA359665834
rs988094289
3 D>E No ClinGen
TOPMed
gnomAD
rs1342768887
CA359665838
3 D>G No ClinGen
TOPMed
rs1430919939
CA359665828
4 G>C No ClinGen
TOPMed
gnomAD
rs1430919939
CA359665830
4 G>R No ClinGen
TOPMed
gnomAD
CA117932913
rs1028926898
6 D>H No ClinGen
TOPMed
CA359665806
rs1028926898
6 D>N No ClinGen
TOPMed
CA359665797
rs74693632
7 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA117932905
rs931505645
8 A>D No ClinGen
TOPMed
CA117932906
rs1048625328
8 A>T No ClinGen
TOPMed
gnomAD
CA117932904
rs931505645
8 A>V No ClinGen
TOPMed
CA359665782
rs1162800470
9 P>T No ClinGen
TOPMed
gnomAD
rs1391714812
CA359665755
10 G>S No ClinGen
gnomAD
rs1186907599
CA359665732
11 A>V No ClinGen
TOPMed
gnomAD
CA359665730
rs1486311166
12 G>S No ClinGen
gnomAD
rs1376294353
CA359665719
13 R>Q No ClinGen
TOPMed
CA117932879
rs972838868
15 R>G No ClinGen
gnomAD
CA117932878
rs970460707
15 R>Q No ClinGen
TOPMed
CA359665702
rs972838868
15 R>W No ClinGen
gnomAD
rs1292614689
CA359665695
16 S>C No ClinGen
gnomAD
rs1456090989
CA359665693
16 S>N No ClinGen
TOPMed
rs775224454
CA3257577
17 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA3257578
rs368538352
17 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs769283075
CA117932867
18 G>D No ClinGen
ExAC
gnomAD
rs769283075
CA3257576
18 G>V No ClinGen
ExAC
gnomAD
CA359665675
rs1357390834
19 L>M No ClinGen
gnomAD
rs895596832
CA117932862
20 G>S No ClinGen
TOPMed
gnomAD
rs1294179842
CA359665657
21 R>C No ClinGen
gnomAD
rs1365618324
CA359665655
21 R>H No ClinGen
gnomAD
rs1294179842
CA359665660
21 R>S No ClinGen
gnomAD
CA3257575
rs747434396
23 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1301994523
CA359665642
23 G>R No ClinGen
gnomAD
rs1275191945
CA359665624
24 G>V No ClinGen
TOPMed
CA359665621
rs1372397633
25 G>R No ClinGen
TOPMed
gnomAD
rs1170876904
CA359665607
26 P>L No ClinGen
TOPMed
gnomAD
CA359665613
rs1579933853
26 P>T No ClinGen
Ensembl
CA117932824
rs905552801
27 E>K No ClinGen
TOPMed
CA359665589
rs1427749729
28 G>D No ClinGen
gnomAD
rs1265612116
CA359665595
28 G>S No ClinGen
TOPMed
rs1184950507
CA359665585
29 G>S No ClinGen
gnomAD
rs947155577
CA117932808
30 G>S No ClinGen
TOPMed
CA359665553
rs1410819960
32 P>L No ClinGen
gnomAD
CA117932806
rs1032703598
32 P>S No ClinGen
TOPMed
gnomAD
CA359665536
rs1390686316
34 G>R No ClinGen
gnomAD
CA359665526
rs1471914791
35 A>P No ClinGen
TOPMed
rs1158989982
CA359665520
35 A>V No ClinGen
TOPMed
rs1489999072
CA359665503
37 P>L No ClinGen
gnomAD
rs912983908
CA359665497
38 A>P No ClinGen
TOPMed
gnomAD
rs912983908
CA117932803
38 A>S No ClinGen
TOPMed
gnomAD
rs1052815812
CA117932794
39 E>A No ClinGen
TOPMed
gnomAD
CA3257574
rs550677463
40 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1385858763
CA359665468
41 A>V No ClinGen
TOPMed
rs571448156
CA359665447
43 H>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3257572
rs748648834
43 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1287709801
CA359665441
44 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA359665433
rs1402636760
44 Q>H No ClinGen
gnomAD
CA117932758
rs1020794727
45 P>Q No ClinGen
Ensembl
rs1263734925
CA359665402
47 Q>H No ClinGen
TOPMed
CA117932747
rs997321863
48 P>L No ClinGen
gnomAD
CA359665391
rs1210618464
49 K>E No ClinGen
TOPMed
CA359665376
rs1482245240
50 A>D No ClinGen
TOPMed
rs1482245240
CA359665373
50 A>V No ClinGen
TOPMed
CA117932746
rs562875256
51 P>L No ClinGen
TOPMed
gnomAD
CA117932735
rs953738506
52 G>S No ClinGen
TOPMed
gnomAD
CA117932729
rs1019690700
53 F>L No ClinGen
Ensembl
rs921963831
CA117932728
53 F>L No ClinGen
TOPMed
CA359665264
rs1579933677
57 P>Q No ClinGen
Ensembl
CA359665267
rs1160724489
57 P>S No ClinGen
TOPMed
CA359665251
rs1561241131
58 P>L No ClinGen
Ensembl
CA359665220
rs1006923335
61 Q>H No ClinGen
TOPMed
gnomAD
rs1457125451
CA359665213
62 P>R No ClinGen
TOPMed
rs1579933646
CA359665171
66 P>L No ClinGen
Ensembl
CA359665178
rs1407836314
66 P>T No ClinGen
TOPMed
CA359665138
rs1450781688
70 A>S No ClinGen
gnomAD
rs1245815878
CA359665119
72 C>G No ClinGen
TOPMed
CA359665051
rs1340298906
78 P>L No ClinGen
TOPMed
CA359665034
rs1177968468
80 R>W No ClinGen
gnomAD
rs1005340018
COSM3787062
CA117932695
83 R>L pancreas [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA359664988
rs1561241070
84 P>L No ClinGen
Ensembl
CA117932688
rs1035915839
85 G>R No ClinGen
TOPMed
CA359664947
rs1273877500
87 L>P No ClinGen
gnomAD
rs755434574 89 E>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1430315681
CA359664923
89 E>K No ClinGen
gnomAD
CA3257550
rs749422672
90 Q>P No ClinGen
ExAC
TOPMed
gnomAD
CA359664622
rs749422672
90 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs562316321
CA117931956
91 T>M No ClinGen
1000Genomes
ExAC
TOPMed
CA3257549
rs562316321
91 T>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
CA117931944
rs955226708
92 R>K No ClinGen
TOPMed
rs767785421
CA117931940
93 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs1002403168
CA117931927
93 P>L No ClinGen
TOPMed
gnomAD
rs767785421
CA3257546
93 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs767785421
CA3257547
93 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA3257543
rs764160098
94 L>P No ClinGen
ExAC
gnomAD
rs962431319
CA117931860
95 R>K No ClinGen
TOPMed
gnomAD
rs190101953
CA3257540
97 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA3257539
rs759019019
98 P>T No ClinGen
ExAC
gnomAD
rs776279823
CA3257538
99 S>T No ClinGen
ExAC
gnomAD
CA359664557
rs1579932559
102 D>G No ClinGen
Ensembl
CA3257535
rs774663961
102 D>N No ClinGen
ExAC
gnomAD
rs548754300
CA117931788
103 K>N No ClinGen
Ensembl
rs1362547839
CA359664534
105 P>L No ClinGen
gnomAD
rs1165971006
CA359664532
106 Q>E No ClinGen
gnomAD
CA3257534
rs769196105
107 Q>E No ClinGen
ExAC
gnomAD
rs1246902869
CA359664522
107 Q>P No ClinGen
TOPMed
CA3257533
rs748499230
108 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs769772392
CA3257531
112 A>T No ClinGen
ExAC
gnomAD
CA359664457
rs1204002761
113 M>T No ClinGen
gnomAD
rs745905117
CA3257530
114 A>T No ClinGen
ExAC
gnomAD
rs1293344317
CA359664434
115 K>M No ClinGen
gnomAD
rs781589612
CA3257529
116 P>L No ClinGen
ExAC
gnomAD
CA117931703
rs892183888
117 Q>R No ClinGen
Ensembl
CA359664409
rs1312630839
118 V>L No ClinGen
gnomAD
rs1340417445
CA359664400
119 V>L No ClinGen
TOPMed
rs1328395337
CA359664374
121 A>V No ClinGen
gnomAD
CA3257525
rs758420058
122 P>L No ClinGen
ExAC
rs752581221
CA3257524
123 V>I No ClinGen
ExAC
gnomAD
rs765163438
CA3257523
124 L>F No ClinGen
ExAC
gnomAD
TCGA novel 124 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3257522
rs367757021
125 M>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA117931661
rs944333142
125 M>V No ClinGen
Ensembl
CA3257521
rs374480379
127 K>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1365565019
CA359664320
127 K>Q No ClinGen
gnomAD
CA3257520
rs374480379
127 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1301683689
CA359664308
128 L>P No ClinGen
gnomAD
rs1460624136
CA359664290
130 V>M No ClinGen
TOPMed
CA359664268
rs1426398904
132 A>G No ClinGen
gnomAD
TCGA novel 134 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1490164975
CA359664203
139 G>D No ClinGen
gnomAD
rs774753530
CA3257518
139 G>S No ClinGen
ExAC
gnomAD
CA359664201
rs1490164975
139 G>V No ClinGen
gnomAD
rs768894743
CA3257517
141 S>F No ClinGen
ExAC
gnomAD
rs1320421758
CA359664161
142 S>F No ClinGen
TOPMed
gnomAD
rs1372365110
CA359664167
142 S>T No ClinGen
TOPMed
gnomAD
COSM177137
CA359664144
rs1339777441
143 S>R Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA3257515
rs540649575
144 Y>C No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 144 Y>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3257514
rs370971947
145 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA359664106
rs370971947
145 T>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3257492
rs201581258
148 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs201581258
CA359662816
148 Y>S No ClinGen
ExAC
TOPMed
gnomAD
rs1462523269
CA359662793
151 G>D No ClinGen
TOPMed
gnomAD
CA3257491
rs772298149
152 C>F No ClinGen
ExAC
gnomAD
rs147428438
CA3257490
154 D>N No ClinGen
1000Genomes
ExAC
gnomAD
CA3257489
rs778743590
156 P>S No ClinGen
ExAC
gnomAD
rs1225606316
CA359662755
157 T>A No ClinGen
gnomAD
rs1346442585
CA359662721
162 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA359662712
rs1236996091
163 Q>R No ClinGen
gnomAD
rs754923991
CA3257488
164 D>N No ClinGen
ExAC
gnomAD
CA359662687
rs1402790064
166 L>F No ClinGen
TOPMed
rs1302070069
CA359662685
167 N>D No ClinGen
TOPMed
CA117924122
rs1025162380
167 N>K No ClinGen
TOPMed
rs779896134
CA3257486
172 Q>K No ClinGen
ExAC
gnomAD
rs989975853
CA117924098
174 G>A No ClinGen
Ensembl
rs989975853
CA359662635
174 G>D No ClinGen
Ensembl
CA3257485
rs755638110
179 E>A No ClinGen
ExAC
gnomAD
CA359662562
rs1319709352
184 A>T No ClinGen
gnomAD
rs1400821137
CA359662552
184 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA3257484
rs749889316
189 G>S No ClinGen
ExAC
gnomAD
rs756906120
CA3257482
191 V>L No ClinGen
ExAC
gnomAD
CA359662391
rs1319938159
198 Q>E No ClinGen
TOPMed
rs1447607766
CA359662361
200 L>F No ClinGen
gnomAD
rs1285442912
CA359662350
201 V>G No ClinGen
TOPMed
gnomAD
rs765621661
CA3257480
202 E>D No ClinGen
ExAC
gnomAD
rs1269814753
CA359662328
203 L>R No ClinGen
TOPMed
rs760188858
CA117924027
204 I>M No ClinGen
ExAC
gnomAD
CA117924031
rs1000281930
204 I>S No ClinGen
TOPMed
rs955157098
CA117924041
204 I>V No ClinGen
Ensembl
CA3257478
rs776583259
205 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA359662301
rs776583259
205 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA359662310
rs1180522936
205 Y>H No ClinGen
TOPMed
CA3257456
rs749328612
208 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs950869337
CA117919942
209 T>I No ClinGen
TOPMed
rs1004196277
CA117919925
210 S>F No ClinGen
Ensembl
rs761729968
CA3257454
210 S>T No ClinGen
ExAC
gnomAD
CA3257453
rs774643854
211 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA3257452
rs768820165
212 P>R No ClinGen
ExAC
gnomAD
rs775238326
CA3257450
213 N>D No ClinGen
ExAC
gnomAD
rs1224989549
CA359660877
214 F>V No ClinGen
gnomAD
rs200898020
CA3257447
217 M>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA359660816
rs1299999029
217 M>T No ClinGen
TOPMed
gnomAD
rs1561233981
CA359660722
223 N>D No ClinGen
Ensembl
CA359660718
rs1217351323
223 N>S No ClinGen
gnomAD
TCGA novel 223 N>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3257445
rs770481346
227 H>Q No ClinGen
ExAC
gnomAD
TCGA novel 228 H>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA359660633
rs1579919162
228 H>N No ClinGen
Ensembl
rs777598536
CA3257443
230 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs140990754
CA3257442
231 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA359660550
rs1429994280
233 P>A No ClinGen
TOPMed
gnomAD
rs1429994280
CA359660552
233 P>T No ClinGen
TOPMed
gnomAD
rs1175467418
CA359660532
234 Q>H No ClinGen
TOPMed
gnomAD
rs780551266
CA3257440
235 S>N No ClinGen
ExAC
gnomAD
rs767850266
CA3257438
237 N>I No ClinGen
ExAC
TOPMed
gnomAD
rs767850266
CA3257437
237 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs767850266
CA3257439
237 N>T No ClinGen
ExAC
TOPMed
gnomAD
CA3257436
rs17851362
239 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751556168
CA3257435
239 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA117919844
rs751556168
239 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA359660497
rs1461503885
240 Q>L No ClinGen
gnomAD
rs1294792325
CA359660491
241 L>S No ClinGen
gnomAD
CA359660480
rs1307673341
243 L>F No ClinGen
TOPMed
gnomAD
CA359659717
rs752921741
247 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs199828948
CA3257413
247 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3257414
rs752921741
247 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA558865324
rs1364087769
249 E>* No ClinGen
gnomAD
CA359659688
rs759399679
249 E>D No ClinGen
ExAC
gnomAD
TCGA novel 258 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3257411
rs377594386
258 K>R No ClinGen
ESP
ExAC
gnomAD
rs1359264575
CA359659567
259 G>E No ClinGen
TOPMed
gnomAD
CA359659558
rs1165832398
260 D>V No ClinGen
gnomAD
CA3257409
rs760516043
264 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs922298642
CA117915753
264 R>Q No ClinGen
TOPMed
gnomAD
rs377433433
CA359659499
266 R>P No ClinGen
ESP
ExAC
gnomAD
rs377433433
CA3257408
266 R>Q No ClinGen
ESP
ExAC
gnomAD
CA3257407
rs771708331
268 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA359659417
rs1265011095
274 L>V No ClinGen
TOPMed
rs746287460
CA3257403
275 G>R No ClinGen
ExAC
gnomAD
CA3257402
rs781392602
278 Y>C No ClinGen
ExAC
gnomAD
rs1263461989
CA359659376
278 Y>H No ClinGen
gnomAD
TCGA novel 279 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1309548016
CA359659349
280 N>I No ClinGen
gnomAD
CA359659344
rs1278918018
280 N>K No ClinGen
gnomAD
rs1579911948
CA359658845
284 K>R No ClinGen
Ensembl
CA359658775
rs1375901890
289 Q>R No ClinGen
gnomAD
rs751142862
CA3257367
298 V>D No ClinGen
ExAC
TOPMed
gnomAD
rs375053699
CA3257368
298 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751142862
CA359658661
298 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA359658667
rs375053699
298 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs763511432
CA3257366
299 G>A No ClinGen
ExAC
gnomAD
rs1344884861
CA359658634
301 R>* No ClinGen
gnomAD
rs140543083
COSM738709
CA3257365
301 R>Q lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA117913899
rs923942364
305 N>S No ClinGen
TOPMed
gnomAD
rs1378024442
CA359658528
309 S>C No ClinGen
gnomAD
CA3257364
rs775020225
311 P>A No ClinGen
ExAC
gnomAD
rs1444109582
CA359658501
312 M>V No ClinGen
gnomAD
CA359658468
rs1305944324
314 D>N No ClinGen
TOPMed
rs1334215477
CA359658406
318 C>S No ClinGen
gnomAD
rs1413463127
CA359658393
319 A>S No ClinGen
gnomAD
CA359658383
rs1160188699
320 V>I No ClinGen
gnomAD
rs1440237382
CA359658350
CA359658352
322 L>F No ClinGen
TOPMed
gnomAD
rs1197045775
CA359658149
327 G>E No ClinGen
Ensembl
rs1193617875
CA359658140
328 S>L No ClinGen
gnomAD
rs375297911
CA3257332
331 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 332 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1398257099
CA359658093
333 A>T No ClinGen
TOPMed
rs559313668
CA3257331
336 E>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs969485953
CA117912719
340 M>T No ClinGen
gnomAD
CA359658006
rs1400125520
340 M>V No ClinGen
gnomAD
CA359657994
rs1296216167
341 D>H No ClinGen
TOPMed
gnomAD
CA3257330
rs775615322
342 M>L No ClinGen
ExAC
gnomAD
CA117912707
rs1023419694
347 Q>R No ClinGen
Ensembl
rs770201798
CA3257329
348 R>K No ClinGen
ExAC
gnomAD
rs746087575
CA3257328
349 I>V No ClinGen
ExAC
gnomAD
rs143500985
CA3257326
352 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 353 V>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1423042327
CA359657807
356 A>T No ClinGen
gnomAD
CA3257323
rs758327466
358 C>G No ClinGen
ExAC
gnomAD
rs752205210
CA3257322
360 R>K No ClinGen
ExAC
gnomAD
rs1579909644
CA359657702
361 D>G No ClinGen
Ensembl
rs1274165130
CA359657708
361 D>Y No ClinGen
TOPMed
CA117912154
rs922377691
362 V>I No ClinGen
TOPMed
gnomAD
CA117912083
rs866284057
370 V>I No ClinGen
Ensembl
rs1240450190
CA359657594
371 E>Q No ClinGen
gnomAD
rs777604242
CA3257306
372 L>I No ClinGen
ExAC
gnomAD
rs748118672
CA117912070
373 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs748118672
CA3257304
373 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3257305
rs537292836
373 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1211668780
CA359657528
377 W>C No ClinGen
gnomAD
CA359657520
rs1312678357
378 G>D No ClinGen
gnomAD
rs963790802
CA117912068
379 R>K No ClinGen
TOPMed
CA3257302
rs754502613
380 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA359657506
rs754502613
380 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs762696122
CA117912026
381 H>N No ClinGen
Ensembl
rs1447773425
CA359657486
381 H>Q No ClinGen
gnomAD
CA117912008
rs199834392
381 H>R No ClinGen
gnomAD
rs540684238
CA117911977
382 A>S No ClinGen
TOPMed
gnomAD
rs540684238
CA359657483
382 A>T No ClinGen
TOPMed
gnomAD
rs766058654
CA3257300
382 A>V No ClinGen
ExAC
gnomAD
CA359657461
rs1467694235
384 S>A No ClinGen
gnomAD
rs755767615
CA3257299
384 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs763161379
CA3257298
385 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs763161379
CA3257297
385 T>P No ClinGen
ExAC
TOPMed
gnomAD
CA3257296
rs763161379
385 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs571425260
CA359657429
386 Y>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA359657434
rs776154087
386 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA3257295
rs776154087
386 Y>F No ClinGen
ExAC
TOPMed
gnomAD
rs1179727783
CA359657427
387 R>G No ClinGen
gnomAD
rs1441796314
CA359657360
394 D>G No ClinGen
gnomAD
rs771110275
CA3257291
399 M>L No ClinGen
ExAC
gnomAD
rs765888476
CA3257276
402 P>A No ClinGen
ExAC
gnomAD
rs754032069
CA3257274
406 T>I No ClinGen
ExAC
CA359657212
rs1179671189
407 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs113833560
CA117910947
410 V>A No ClinGen
TOPMed
rs766481788
CA3257273
411 P>L No ClinGen
ExAC
gnomAD
CA359657179
rs1423001735
411 P>S No ClinGen
TOPMed
CA3257272
rs760610345
415 A>G No ClinGen
ExAC
gnomAD
CA3257271
rs773501499
417 P>R No ClinGen
ExAC
gnomAD
rs1215838940
CA359657140
417 P>S No ClinGen
gnomAD
CA359657095
rs1265034344
418 D>E No ClinGen
gnomAD
rs1320007326
CA359657091
419 Y>C No ClinGen
TOPMed
gnomAD
CA3257254
rs779410324
419 Y>H No ClinGen
ExAC
gnomAD
CA3257252
rs754406394
425 E>A No ClinGen
ExAC
gnomAD
rs930144885
CA359657004
431 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs930144885
CA117903342
431 D>N No ClinGen
TOPMed
rs1390498170
CA359656973
435 D>Y No ClinGen
TOPMed
gnomAD
TCGA novel 436 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3257251
rs547385153
436 Y>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3257250
rs760835280
436 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA359656966
rs547385153
436 Y>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 437 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA117903289
rs961095978
437 E>K No ClinGen
Ensembl
rs1169413260
CA359656943
439 N>S No ClinGen
gnomAD
CA359656905
rs1379342059
445 G>R No ClinGen
TOPMed
gnomAD
CA359656898
rs1279113828
446 A>P No ClinGen
gnomAD
CA3257247
rs762007079
447 G>S No ClinGen
ExAC
gnomAD
rs149920694
CA3257246
449 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3257243
rs775521136
449 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3257244
rs775521136
449 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs149920694
CA3257245
449 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs149920694
CA359656880
449 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757259103
CA3257225
450 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA359656575
rs1353945897
451 L>F No ClinGen
gnomAD
CA359656558
rs1308026266
453 D>N No ClinGen
TOPMed
gnomAD
CA3257224
rs751795197
454 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA359656502
rs1342262762
456 D>E No ClinGen
TOPMed
rs764253665
CA3257223
458 M>I No ClinGen
ExAC
gnomAD
rs573216023
CA3257221
468 K>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1373596830
CA359656371
468 K>T No ClinGen
gnomAD
TCGA novel 471 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1158147214
CA359656318
473 S>L No ClinGen
gnomAD
rs919475254
CA117901155
473 S>P No ClinGen
Ensembl
rs759381679
COSM1068436
CA3257219
475 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs202074856
CA3257218
475 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3257217
rs201359614
477 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA3257216
rs200129628
477 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA359656257
rs1219473715
479 Q>R No ClinGen
gnomAD

No associated diseases with Q9H074

13 regional properties for Q9H074

Type Name Position InterPro Accession
domain B-box-type zinc finger 92 - 133 IPR000315
domain Zinc finger, RING-type 16 - 57 IPR001841
domain B30.2/SPRY domain 276 - 468 IPR001870
domain SPRY domain 346 - 465 IPR003877
domain Butyrophylin-like, SPRY domain 292 - 309 IPR003879-1
domain Butyrophylin-like, SPRY domain 309 - 326 IPR003879-2
domain Butyrophylin-like, SPRY domain 331 - 355 IPR003879-3
domain Butyrophylin-like, SPRY domain 361 - 374 IPR003879-4
domain Butyrophylin-like, SPRY domain 404 - 428 IPR003879-5
domain Butyrophylin-like, SPRY domain 434 - 452 IPR003879-6
domain SPRY-associated 293 - 345 IPR006574
conserved_site Zinc finger, RING-type, conserved site 31 - 40 IPR017907
domain TRIM75, PRY/SPRY domain 276 - 462 IPR035785

Functions

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

3 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.
mCRD-mediated mRNA stability complex A protein complex that binds to, and promotes stabilization of, mRNA molecules containing the major coding region instability determinant (mCRD) by bridging the mCRD domain and the poly(A) tail of the mRNA. In human, it consists of CSDE1, HNRPD, PABPC1, PAIP1 and SYNCRIP.

2 GO annotations of molecular function

Name Definition
RNA binding Binding to an RNA molecule or a portion thereof.
translation activator activity Any of a group of soluble proteins functioning in the activation of ribosome-mediated translation of mRNA into a polypeptide.

7 GO annotations of biological process

Name Definition
CRD-mediated mRNA stabilization An mRNA stabilization process in which one or more RNA-binding proteins associate with a sequence in the open reading frame called the coding region instability determinant (CRD).
mRNA stabilization Prevention of degradation of mRNA molecules. In the absence of compensating changes in other processes, the slowing of mRNA degradation can result in an overall increase in the population of active mRNA molecules.
negative regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay Any process that stops, prevents or reduces the frequency, rate or extent of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay.
positive regulation by host of viral process A process in which a host organism activates or increases the frequency, rate or extent of the release of a process being mediated by a virus with which it is infected.
positive regulation of cytoplasmic translation Any process that activates or increases the frequency, rate or extent of cytoplasmic translation.
regulation of translational initiation Any process that modulates the frequency, rate or extent of translational initiation.
translational initiation The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA.

8 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q95L46 EIF4G2 Eukaryotic translation initiation factor 4 gamma 2 Bos taurus (Bovine) PR
O43432 EIF4G3 Eukaryotic translation initiation factor 4 gamma 3 Homo sapiens (Human) EV
Q04637 EIF4G1 Eukaryotic translation initiation factor 4 gamma 1 Homo sapiens (Human) EV
P78344 EIF4G2 Eukaryotic translation initiation factor 4 gamma 2 Homo sapiens (Human) PR
Q6NZJ6 Eif4g1 Eukaryotic translation initiation factor 4 gamma 1 Mus musculus (Mouse) SS
Q80XI3 Eif4g3 Eukaryotic translation initiation factor 4 gamma 3 Mus musculus (Mouse) SS
Q62448 Eif4g2 Eukaryotic translation initiation factor 4 gamma 2 Mus musculus (Mouse) PR
Q8VE62 Paip1 Polyadenylate-binding protein-interacting protein 1 Mus musculus (Mouse) PR
10 20 30 40 50 60
MSDGFDRAPG AGRGRSRGLG RGGGGPEGGG FPNGAGPAER ARHQPPQPKA PGFLQPPPLR
70 80 90 100 110 120
QPRTTPPPGA QCEVPASPQR PSRPGALPEQ TRPLRAPPSS QDKIPQQNSE SAMAKPQVVV
130 140 150 160 170 180
APVLMSKLSV NAPEFYPSGY SSSYTESYED GCEDYPTLSE YVQDFLNHLT EQPGSFETEI
190 200 210 220 230 240
EQFAETLNGC VTTDDALQEL VELIYQQATS IPNFSYMGAR LCNYLSHHLT ISPQSGNFRQ
250 260 270 280 290 300
LLLQRCRTEY EVKDQAAKGD EVTRKRFHAF VLFLGELYLN LEIKGTNGQV TRADILQVGL
310 320 330 340 350 360
RELLNALFSN PMDDNLICAV KLLKLTGSVL EDAWKEKGKM DMEEIIQRIE NVVLDANCSR
370 380 390 400 410 420
DVKQMLLKLV ELRSSNWGRV HATSTYREAT PENDPNYFMN EPTFYTSDGV PFTAADPDYQ
430 440 450 460 470
EKYQELLERE DFFPDYEENG TDLSGAGDPY LDDIDDEMDP EIEEAYEKFC LESERKRKQ