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

1 structures for Q8IUF1

Entry ID Method Resolution Chain Position Source
AF-Q8IUF1-F1 Predicted AlphaFoldDB

280 variants for Q8IUF1

Variant ID(s) Position Change Description Diseaes Association Provenance
rs140753748
CA1840550
3 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1840551
rs756664315
3 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1436900255
CA348310842
4 A>T No ClinGen
TOPMed
gnomAD
TCGA novel
CA348310855
rs1470662071
6 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
gnomAD
CA1840554
rs2475446
8 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA348310883
rs1302070121
9 D>E No ClinGen
TOPMed
CA348310880
rs746718702
9 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs746718702
CA1840556
9 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA1840555
rs779692251
9 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs768154666
CA1840558
10 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA1840561
rs145583603
12 E>K No ClinGen
ESP
ExAC
gnomAD
rs145583603
CA348310922
12 E>Q No ClinGen
ESP
ExAC
gnomAD
rs1278593349
CA348310957
14 P>A No ClinGen
TOPMed
gnomAD
rs1278593349
CA348310959
14 P>S No ClinGen
TOPMed
gnomAD
rs1284320656
CA348310988
16 E>G No ClinGen
gnomAD
CA348310984
rs1225797515
16 E>K No ClinGen
gnomAD
rs769728276
CA348311024
18 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1323495602
CA348311021
18 D>V No ClinGen
gnomAD
rs773198947
CA1840563
19 C>F No ClinGen
ExAC
TOPMed
gnomAD
CA1840564
rs762863119
21 E>* No ClinGen
ExAC
gnomAD
CA348311046
rs1266875176
21 E>D No ClinGen
TOPMed
CA348311054
rs1203840504
22 L>F No ClinGen
gnomAD
rs374912448
CA53728487
23 V>F No ClinGen
ESP
gnomAD
rs1490901879
CA348311067
25 M>V No ClinGen
gnomAD
rs771048315
CA1840565
26 E>G No ClinGen
ExAC
gnomAD
CA1840566
rs774263231
27 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA1840567
rs759830894
28 T>M No ClinGen
ExAC
gnomAD
CA1840568
rs767581923
29 Q>L No ClinGen
ExAC
TOPMed
gnomAD
CA348311109
rs1410052837
31 E>K No ClinGen
gnomAD
CA1840572
rs754448906
35 K>R No ClinGen
ExAC
gnomAD
rs757811718
CA1840573
37 G>D No ClinGen
ExAC
gnomAD
rs373120143
CA1840574
38 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs754672635
CA348311224
39 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs754672635
CA1840576
39 G>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 41 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1296158076
CA348311295
44 V>A No ClinGen
TOPMed
TCGA novel 45 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 46 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1354323632
CA348311337
47 I>M No ClinGen
TOPMed
CA348311328
rs1268402378
47 I>V No ClinGen
gnomAD
CA1840580
rs777521352
48 T>N No ClinGen
ExAC
TOPMed
gnomAD
CA348311354
rs1243832215
49 G>V No ClinGen
gnomAD
rs1481992717
CA348311633
52 G>D No ClinGen
TOPMed
gnomAD
TCGA novel 54 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA348311659
rs1387682477
56 T>K No ClinGen
gnomAD
rs1196973720
CA348311668
57 T>I No ClinGen
gnomAD
rs199530319
CA53729834
60 N>K No ClinGen
TOPMed
gnomAD
rs1291596502
CA348311683
60 N>T No ClinGen
TOPMed
CA348311691
rs1325192415
61 Y>C No ClinGen
TOPMed
gnomAD
rs1325192415
CA348311690
61 Y>S No ClinGen
TOPMed
gnomAD
rs762202506
CA1840610
62 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1553436092
CA348311709
64 T>A No ClinGen
Ensembl
CA53729839
rs535124182
66 Q>* No ClinGen
1000Genomes
rs1461045215
CA348311738
68 S>G No ClinGen
TOPMed
CA348311753
rs1573673581
70 R>G No ClinGen
Ensembl
CA348311760
rs1480939783
71 V>I No ClinGen
TOPMed
gnomAD
CA348311761
rs1480939783
71 V>L No ClinGen
TOPMed
gnomAD
rs1573673618
CA348311767
72 A>P No ClinGen
Ensembl
rs1176009571
CA348311769
72 A>V No ClinGen
TOPMed
gnomAD
rs1318165971
CA348311796
76 N>S No ClinGen
TOPMed
gnomAD
rs1553436114
CA348311811
78 F>Y No ClinGen
Ensembl
CA348311816
rs1451240291
79 G>W No ClinGen
TOPMed
rs907259389
CA53729848
80 E>G No ClinGen
TOPMed
rs1225457716
CA348311844
81 G>E No ClinGen
TOPMed
gnomAD
CA348311846
rs1225457716
81 G>V No ClinGen
TOPMed
gnomAD
CA1840627
rs200825474
82 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA348311858
rs988621436
83 A>G No ClinGen
TOPMed
gnomAD
CA53730738
rs988621436
83 A>V No ClinGen
TOPMed
gnomAD
CA53730744
rs914410924
84 L>M No ClinGen
TOPMed
CA348311884
rs1221377427
87 S>F No ClinGen
gnomAD
rs1487027669
CA348311895
89 A>G No ClinGen
gnomAD
CA348311916
rs1189814055
92 Q>R No ClinGen
gnomAD
rs1240919241
CA348311925
93 G>V No ClinGen
TOPMed
rs1447746658
CA348311926
94 G>R No ClinGen
gnomAD
CA348311940
rs1314321335
96 L>V No ClinGen
TOPMed
CA348311949
rs1185484020
97 Y>C No ClinGen
TOPMed
gnomAD
CA348311951
rs1185484020
97 Y>S No ClinGen
TOPMed
gnomAD
CA348311954
rs1386173166
98 E>K No ClinGen
gnomAD
CA348311962
rs1384323371
99 E>K No ClinGen
TOPMed
rs1224710382
CA348311988
102 E>G No ClinGen
Ensembl
rs1423435484
CA348311984
102 E>K No ClinGen
gnomAD
rs1158343310
CA348312000
104 R>K No ClinGen
TOPMed
gnomAD
rs201389016
CA53730760
106 G>S No ClinGen
TOPMed
gnomAD
CA348312025
rs1573680811
107 C>W No ClinGen
Ensembl
CA348312030
rs1573680829
108 L>P No ClinGen
Ensembl
CA348312036
rs1385229395
109 C>F No ClinGen
TOPMed
CA348312033
rs1573680843
109 C>R No ClinGen
Ensembl
CA348312037
rs1385229395
109 C>Y No ClinGen
TOPMed
rs200145218
CA1840628
110 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA535244752
rs1340545541
111 S>* No ClinGen
gnomAD
rs1573680946
CA348312061
113 K>* No ClinGen
Ensembl
CA1840636
rs774990656
115 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA348312094
rs1411234538
116 G>S No ClinGen
gnomAD
CA348312118
rs1338572643
119 A>T No ClinGen
TOPMed
gnomAD
CA1840639
rs753543790
120 I>T No ClinGen
ExAC
gnomAD
rs763586852
CA1840638
120 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs944611365
CA53731063
123 L>S No ClinGen
Ensembl
CA1840640
rs761498305
125 Q>R No ClinGen
ExAC
gnomAD
TCGA novel 126 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1279176326
CA348312268
128 G>R No ClinGen
TOPMed
rs764974768
CA1840641
130 F>Y No ClinGen
ExAC
TOPMed
gnomAD
rs765855293
CA1840642
131 D>G No ClinGen
ExAC
gnomAD
rs1558899912
CA348312319
131 D>Y No ClinGen
Ensembl
CA348312345
rs1286617278
132 Y>D No ClinGen
TOPMed
gnomAD
CA348312405
rs1303046191
135 L>* No ClinGen
TOPMed
CA348312434
rs1558900017
137 T>N No ClinGen
Ensembl
rs143982835
CA1840643
137 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780070293
CA1840644
138 T>S No ClinGen
ExAC
gnomAD
CA1840645
rs751538696
139 G>A No ClinGen
ExAC
gnomAD
CA1840646
rs751538696
139 G>E No ClinGen
ExAC
gnomAD
CA1840647
rs781401313
140 L>F No ClinGen
ExAC
gnomAD
CA348312511
rs1483501684
142 D>E No ClinGen
gnomAD
CA1840648
rs748357002
142 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs748357002
CA348312499
142 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs770017121
CA1840649
143 P>L No ClinGen
ExAC
gnomAD
CA348312515
rs1182680823
143 P>S Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA348313660
rs749463741
144 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA1840673
rs749463741
144 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA348313674
rs1331828653
146 V>M No ClinGen
TOPMed
gnomAD
rs771340569
CA1840677
148 S>F No ClinGen
ExAC
gnomAD
rs772522960
CA1840680
149 M>I No ClinGen
ExAC
gnomAD
rs779225253
CA1840678
149 M>L No ClinGen
ExAC
gnomAD
rs779225253
CA1840679
149 M>V No ClinGen
ExAC
gnomAD
CA348313752
rs1402401836
151 W>* No ClinGen
TOPMed
rs776135902
CA1840681
151 W>L No ClinGen
ExAC
gnomAD
rs1173560285
CA348313762
152 V>A No ClinGen
TOPMed
rs1173560285
CA348313761
152 V>D No ClinGen
TOPMed
TCGA novel 153 D>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1341010206
CA348313767
153 D>G No ClinGen
TOPMed
gnomAD
CA1840682
rs761324630
153 D>N No ClinGen
ExAC
gnomAD
rs1341010206
CA348313768
153 D>V No ClinGen
TOPMed
gnomAD
rs769182972
CA1840683
154 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA1840684
rs772977285
157 G>E No ClinGen
ExAC
gnomAD
CA1840707
rs748976990
164 G>D No ClinGen
ExAC
gnomAD
rs1451423699
CA348313842
164 G>S No ClinGen
TOPMed
gnomAD
rs748976990
CA348313856
164 G>V No ClinGen
ExAC
gnomAD
CA348313858
rs1163797532
165 I>V No ClinGen
gnomAD
rs1415631039
CA348313864
166 I>L No ClinGen
gnomAD
TCGA novel 166 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1458725391
CA348313876
167 T>I No ClinGen
gnomAD
TCGA novel 167 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1840708
rs559773200
168 I>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs559773200
CA1840709
168 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA348313900
rs1219010322
171 S>* No ClinGen
TOPMed
rs1427959168
CA348313903
172 K>E No ClinGen
gnomAD
rs767415398
CA1840711
174 G>R No ClinGen
ExAC
gnomAD
rs775555744
CA1840712
175 L>F No ClinGen
ExAC
TOPMed
rs760686794
CA1840737
179 A>G No ClinGen
ExAC
gnomAD
rs2785346
CA53737107
179 A>T No ClinGen
Ensembl
rs200424294
CA53737122
180 E>K No ClinGen
TOPMed
gnomAD
rs1268572226
CA348314484
181 E>K No ClinGen
TOPMed
gnomAD
rs1268572226
CA348314486
181 E>Q No ClinGen
TOPMed
gnomAD
CA1840738
rs768420618
182 K>N No ClinGen
ExAC
gnomAD
CA348314538
rs1407405317
187 I>V No ClinGen
TOPMed
CA1840741
rs542958391
188 N>S No ClinGen
1000Genomes
ExAC
gnomAD
rs750696528
CA1840742
192 R>M No ClinGen
ExAC
TOPMed
gnomAD
rs761720756
CA1840758
193 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA1840759
rs769905818
194 V>F No ClinGen
ExAC
gnomAD
rs1184992164
CA348314717
199 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs3203717
CA53738127
199 A>V No ClinGen
gnomAD
rs376064146
CA1840761
202 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766451868
CA1840762
203 N>S No ClinGen
ExAC
gnomAD
CA53738164
rs768422582
203 N>Y No ClinGen
Ensembl
CA348314801
rs1415274871
205 T>A No ClinGen
gnomAD
CA348314806
rs751954865
205 T>I No ClinGen
ExAC
gnomAD
CA1840763
rs751954865
205 T>K No ClinGen
ExAC
gnomAD
rs759880703
CA1840764
208 V>F No ClinGen
ExAC
gnomAD
rs759880703
CA348314839
208 V>I No ClinGen
ExAC
gnomAD
rs939006970
CA53738187
210 E>Q No ClinGen
TOPMed
TCGA novel 211 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1840767
rs767906734
214 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA348314918
rs1346456603
COSM1005703
214 K>N endometrium [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA1840768
rs144687267
214 K>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778595036
CA1840770
217 R>I No ClinGen
ExAC
gnomAD
rs886802765
CA53738212
217 R>S No ClinGen
TOPMed
CA348314956
rs144103320
218 A>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA53738215
rs71416525
218 A>T No ClinGen
Ensembl
CA1840771
rs144103320
218 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs779641221
CA1840773
219 T>A No ClinGen
ExAC
gnomAD
rs1416222543
CA348315147
221 R>S No ClinGen
TOPMed
gnomAD
rs927505767
CA53739255
222 S>P No ClinGen
TOPMed
gnomAD
CA348315156
rs1354155615
223 I>T No ClinGen
gnomAD
rs530131254
CA53739256
223 I>V No ClinGen
1000Genomes
rs1421652251
CA348315165
224 N>K No ClinGen
TOPMed
CA53739257
rs938931462
228 Q>R No ClinGen
TOPMed
CA348315208
rs1573735904
231 E>A No ClinGen
Ensembl
rs1375025492
CA348315223
233 Q>R No ClinGen
TOPMed
CA348315241
rs1196431855
236 R>* No ClinGen
TOPMed
CA348315244
rs1453576394
236 R>T No ClinGen
TOPMed
rs562310973
CA1840794
237 V>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1261282878
CA348315270
238 D>A No ClinGen
TOPMed
gnomAD
CA348315271
rs1261282878
238 D>V No ClinGen
TOPMed
gnomAD
CA1840795
rs371712727
239 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs749231554
CA1840797
240 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs13339786
CA1840798
242 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA348315302
rs1164085221
243 L>* No ClinGen
gnomAD
CA348315309
rs1391651972
244 D>G No ClinGen
gnomAD
rs1436569405
CA348315315
245 L>V No ClinGen
gnomAD
CA1840799
rs199832921
247 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA1840800
rs746107134
247 A>V No ClinGen
ExAC
gnomAD
rs772370167
CA1840801
248 F>S No ClinGen
ExAC
gnomAD
rs761190765
CA1840803
250 S>G No ClinGen
ExAC
gnomAD
CA1840804
rs764540497
250 S>N No ClinGen
ExAC
gnomAD
rs777054336
CA1840805
252 S>Y No ClinGen
ExAC
TOPMed
gnomAD
CA348315366
rs1331384000
253 G>E No ClinGen
TOPMed
gnomAD
CA1840806
rs762354322
255 S>C No ClinGen
ExAC
gnomAD
TCGA novel 255 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1260405180
CA348315379
255 S>T No ClinGen
gnomAD
CA348316471
rs1212522730
258 K>N No ClinGen
TOPMed
gnomAD
CA53748254
rs1021672693
258 K>R No ClinGen
TOPMed
gnomAD
rs1426195215
CA348316515
262 H>L No ClinGen
TOPMed
rs1426195215
CA348316513
262 H>P No ClinGen
TOPMed
rs1281229210
CA348316517
262 H>Q No ClinGen
gnomAD
TCGA novel 262 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1387883225
CA348316525
263 V>A No ClinGen
TOPMed
rs879513104
CA53748264
264 P>S No ClinGen
TOPMed
gnomAD
rs969202273
CA53748275
266 T>A No ClinGen
TOPMed
rs1209879142
CA348316556
267 Q>P No ClinGen
gnomAD
rs980220150
CA53748287
268 P>L No ClinGen
TOPMed
gnomAD
CA348316578
rs200305938
269 H>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA348316593
rs1406646897
271 D>H No ClinGen
gnomAD
CA53748293
rs937880614
272 Q>E No ClinGen
TOPMed
CA53750914
rs911737589
273 S>N No ClinGen
TOPMed
CA348316848
rs1279413381
277 I>N No ClinGen
gnomAD
CA348316844
rs1443598521
277 I>V No ClinGen
TOPMed
gnomAD
CA348316855
rs1222433757
278 T>I No ClinGen
TOPMed
CA53750917
rs944596416
280 E>A No ClinGen
TOPMed
gnomAD
CA348316900
rs1221008100
285 A>E No ClinGen
gnomAD
CA348316922
rs1347392478
288 E>A No ClinGen
gnomAD
rs1280497502
CA348316934
289 H>Q No ClinGen
TOPMed
rs1233358376
CA348316946
291 N>I No ClinGen
gnomAD
CA348316951
rs1277954542
292 M>L No ClinGen
gnomAD
CA348316953
rs1439299584
292 M>T No ClinGen
gnomAD
rs1300011002
CA348317014
299 W>G No ClinGen
gnomAD
rs199843165
CA53750983
303 V>M No ClinGen
TOPMed
gnomAD
CA348317068
rs1354150436
306 K>T No ClinGen
TOPMed
rs1305669156
CA348317085
308 N>S No ClinGen
TOPMed
gnomAD
rs1415922723
CA348317091
309 H>Y No ClinGen
TOPMed
CA348317102
rs1285181113
310 C>Y No ClinGen
TOPMed
gnomAD
CA348317120
rs1453382278
312 E>D No ClinGen
TOPMed
CA348317153
rs1487387075
316 L>P No ClinGen
TOPMed
gnomAD
CA1840834
rs374153631
322 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1359185768
CA348317283
324 D>A No ClinGen
TOPMed
gnomAD
CA348317285
rs1359185768
324 D>G No ClinGen
TOPMed
gnomAD
CA348317393
rs1269399187
333 G>A No ClinGen
gnomAD
rs757154117
CA1840837
333 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs757154117
CA1840836
333 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA1840838
rs551366691
335 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1840840
rs780250768
336 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs758600128
CA1840839
336 E>K No ClinGen
ExAC
CA348317429
rs1385229466
337 L>I No ClinGen
gnomAD
CA53751289
rs768954597
338 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs768954597
CA1840842
338 Y>S No ClinGen
ExAC
TOPMed
gnomAD
CA348317478
rs1211268397
341 E>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs781425560
CA1840843
344 P>S No ClinGen
ExAC
gnomAD
rs1408704386
CA348317523
345 V>L No ClinGen
TOPMed
rs1342084779
CA348317533
346 S>N No ClinGen
gnomAD
CA348317578
rs1573810748
349 D>E No ClinGen
Ensembl
rs748482498
CA1840844
353 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA348317622
COSM1005705
rs1354347258
353 R>I Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA348317620
rs1354347258
353 R>K No ClinGen
TOPMed
rs1451591225
CA348317629
354 T>A No ClinGen
TOPMed
CA348317636
rs1240752834
354 T>K No ClinGen
gnomAD
rs770047712
CA1840845
355 N>S No ClinGen
ExAC
gnomAD
CA1840847
rs763423973
356 R>G No ClinGen
ExAC
gnomAD
CA1840848
rs771606644
356 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1459978753
CA348317666
357 L>F No ClinGen
gnomAD
rs202027283
CA53751349
360 L>I No ClinGen
Ensembl
TCGA novel 363 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 364 L>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA53751477
rs937665707
371 Q>H No ClinGen
TOPMed
gnomAD
CA53751518
rs113235957
374 I>L No ClinGen
TOPMed
rs113235957
CA53751483
374 I>V No ClinGen
TOPMed
rs1157104864
CA348317836
379 E>K No ClinGen
gnomAD
rs1573811607
CA348317886
385 T>K No ClinGen
Ensembl
CA53751523
rs939802143
386 T>A No ClinGen
TOPMed
gnomAD
CA348317928
rs1417030969
391 D>N No ClinGen
TOPMed
TCGA novel 392 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA348317943
rs1553446679
393 V>L No ClinGen
Ensembl
rs1164874199
CA348317956
395 T>P No ClinGen
TOPMed

No associated diseases with Q8IUF1

2 regional properties for Q8IUF1

Type Name Position InterPro Accession
domain CobW/HypB/UreG, nucleotide-binding domain 43 - 230 IPR003495
domain Zinc chaperone CobW-like, C-terminal 274 - 375 IPR011629

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
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.
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.

1 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.

No GO annotations of biological process

Name Definition
No GO annotations for biological process

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P53729 ZNG1 Zinc-regulated GTPase metalloprotein activator 1 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
Q9BRT8 ZNG1A Zinc-regulated GTPase metalloprotein activator 1A Homo sapiens (Human) PR
10 20 30 40 50 60
MLPAVGSADE EEDPAEEDCP ELVPMETTQS EEEEKSGLGA KIPVTIITGY LGAGKTTLLN
70 80 90 100 110 120
YILTEQHSKR VAVILNEFGE GSALEKSLAV SQGGELYEEW LELRNGCLCC SVKDNGLRAI
130 140 150 160 170 180
ENLMQKKGKF DYILLETTGL ADPGAVASMF WVDAELGSDI YLDGIITIVD SKYGLKHLAE
190 200 210 220 230 240
EKPDGLINEA TRQVALADAI LINKTDLVPE EDVKKLRATI RSINGLGQIL ETQRSRVDLS
250 260 270 280 290 300
NVLDLHAFDS LSGISLQKKL QHVPGTQPHL DQSIVTITFE VPGNAKEEHL NMFIQNLLWE
310 320 330 340 350 360
KNVRNKDNHC MEVIRLKGLV SIKDKSQQVI VQGVHELYDL EETPVSWKDD TERTNRLVLL
370 380 390
GRNLDKDILK QLFIATVTET EKQWTTHFKE DQVCT