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 Q9BZY9

Entry ID Method Resolution Chain Position Source
2YSJ NMR - A 1-56 PDB
2YSL NMR - A 1-66 PDB
AF-Q9BZY9-F1 Predicted AlphaFoldDB

340 variants for Q9BZY9

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV002548296
RCV000964268
rs368717514
CA3694898
5 Q>H Inborn genetic diseases [ClinVar] Yes 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
ClinVar
dbSNP
CA3694765
RCV002548295
rs369895511
RCV000964267
175 E>D Inborn genetic diseases [ClinVar] Yes 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
ClinVar
dbSNP
RCV000964266
RCV002547286
CA3694760
rs372346318
187 L>F Inborn genetic diseases [ClinVar] Yes 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
ClinVar
dbSNP
CA363056086
rs1206063689
2 A>T No TOPMed
ClinGen
rs1043038131
CA136035590
4 G>V No Ensembl
ClinGen
TCGA novel 5 Q>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3694897
RCV000963327
rs61758092
6 F>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
ClinVar
dbSNP
rs753966886
CA3694896
11 Q>* No ExAC
gnomAD
ClinGen
rs778291878
CA136035579
12 E>Q No Ensembl
ClinGen
CA3694895
rs752340890
14 V>A No ExAC
TOPMed
gnomAD
ClinGen
CA363056002
rs752340890
14 V>G No ExAC
TOPMed
gnomAD
ClinGen
CA363055999
rs1172631823
15 I>F No TOPMed
gnomAD
ClinGen
rs1163021320
CA363055997
15 I>N No ClinGen
TOPMed
CA363056000
rs1172631823
15 I>V No TOPMed
gnomAD
ClinGen
rs868454137
CA136035545
16 C>F No Ensembl
ClinGen
CA3694894
rs36063651
RCV000956376
VAR_052139
17 P>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
ClinVar
UniProt
dbSNP
CA3694893
rs201488158
21 D>N Variant assessed as Somatic; 0.0004625 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
rs1449713748
CA363055955
22 I>F No TOPMed
gnomAD
ClinGen
rs776113493
CA3694892
22 I>M No ExAC
gnomAD
ClinGen
TCGA novel 22 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 25 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3694891
rs766359621
27 V>A No ExAC
gnomAD
ClinGen
CA363055914
rs760639697
28 T>N No ExAC
TOPMed
gnomAD
ClinGen
CA3694890
rs760639697
28 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1255619584
CA363055892
31 C>S No gnomAD
ClinGen
CA363055879
rs1229323538
33 H>R No ClinGen
gnomAD
CA136035487
rs909395695
34 N>S No TOPMed
ClinGen
CA136035486
rs919074370
35 F>L No TOPMed
gnomAD
ClinGen
CA3694887
rs763097765
39 C>S No ExAC
gnomAD
ClinGen
CA363055823
rs1395224382
41 T>S No gnomAD
ClinGen
rs770138237
CA3694885
43 I>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA136035451
rs952519359
44 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No TOPMed
ClinGen
NCI-TCGA
CA3694884
rs141348729
44 G>R No ESP
ExAC
TOPMed
ClinGen
CA3694883
rs781401484
45 E>K No ExAC
TOPMed
gnomAD
ClinGen
rs1025804422
CA136035410
46 T>I No TOPMed
gnomAD
ClinGen
TCGA novel 47 S>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs140451451
CA3694882
48 C>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs760012481
CA136035386
52 K>R No TOPMed
gnomAD
ClinGen
CA3694881
rs747514038
53 C>Y No ExAC
TOPMed
gnomAD
ClinGen
rs575085426
CA136035341
56 C>R No 1000Genomes
ClinGen
CA3694879
rs758727334
56 C>Y No ExAC
TOPMed
gnomAD
ClinGen
CA136035331
rs1006773065
58 T>A No TOPMed
ClinGen
CA363055704
rs1186697519
59 S>F No gnomAD
ClinGen
COSM1131938
CA3694878
rs143020056
60 V>I prostate [Cosmic] No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
rs778601370
CA3694876
61 R>S No ClinGen
ExAC
gnomAD
CA363055654
rs1432369407
64 A>T No TOPMed
ClinGen
CA3694873
rs765843593
65 I>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA3694874
COSM4006269
rs753392641
65 I>V urinary_tract [Cosmic] No ExAC
gnomAD
ClinGen
cosmic curated
CA363055624
rs1373633735
66 R>K No TOPMed
ClinGen
CA3694871
rs766186873
69 S>L No ExAC
gnomAD
ClinGen
CA363055564
rs1215892299
71 L>F No gnomAD
ClinGen
CA3694868
rs772883792
72 R>Q No ExAC
TOPMed
gnomAD
ClinGen
RCV000956375
CA3694869
rs34704616
72 R>W No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
ClinVar
dbSNP
CA3694866
rs759804971
73 N>K No ExAC
gnomAD
ClinGen
CA3694865
rs776885241
76 E>K No ExAC
ClinGen
CA3694864
rs747480111
81 L>P No ExAC
TOPMed
gnomAD
ClinGen
CA3694863
rs747480111
81 L>Q No ExAC
TOPMed
gnomAD
ClinGen
CA363055452
rs1562051569
81 L>V No Ensembl
ClinGen
CA363055442
rs778273573
82 Q>* No ExAC
gnomAD
ClinGen
CA3694862
rs778273573
82 Q>K No ExAC
gnomAD
ClinGen
rs1484115059
CA363055438
82 Q>R No gnomAD
ClinGen
rs566610300
CA3694861
83 A>T No 1000Genomes
ExAC
gnomAD
ClinGen
CA363055391
rs1208142920
85 E>D No TOPMed
ClinGen
rs1347744403
CA363055404
85 E>Q No TOPMed
ClinGen
rs1204630669
CA363055375
87 Q>* No gnomAD
ClinGen
CA136035220
rs928628355
87 Q>L No TOPMed
gnomAD
ClinGen
CA136035228
rs928628355
87 Q>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No TOPMed
gnomAD
ClinGen
NCI-TCGA
rs748568951
CA3694860
88 S>Y No ExAC
gnomAD
ClinGen
CA3694859
rs111260969
91 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3694857
rs753447669
92 E>D No ExAC
TOPMed
gnomAD
ClinGen
rs546987778
CA3694858
92 E>K No 1000Genomes
ExAC
ClinGen
CA3694856
rs779444991
93 A>P No ExAC
gnomAD
ClinGen
CA136035189
rs1002946748
94 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No Ensembl
ClinGen
NCI-TCGA
rs1440941298
CA363055280
94 T>I No gnomAD
ClinGen
rs1440941298
CA363055284
94 T>K No gnomAD
ClinGen
rs767550609
CA3694853
95 C>F No ExAC
gnomAD
ClinGen
CA3694854
rs749898364
95 C>R No ExAC
gnomAD
ClinGen
rs766577024
CA136035165
96 P>A No Ensembl
ClinGen
rs145117238
CA3694852
96 P>L No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs751442542
CA3694851
99 Q>* No ExAC
TOPMed
gnomAD
ClinGen
rs751442542
CA363055220
99 Q>E No ExAC
TOPMed
gnomAD
ClinGen
CA3694850
rs769703369
100 E>K No ExAC
TOPMed
gnomAD
ClinGen
RCV000956374
rs35521684
CA3694848
101 M>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
ClinVar
dbSNP
CA3694849
rs141328626
101 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1176721490
CA363055157
103 H>Y No gnomAD
ClinGen
rs1223458817
CA363055147
104 Y>C No ClinGen
gnomAD
CA3694846
rs760873832
104 Y>H No ClinGen
ExAC
gnomAD
rs772682330
CA3694845
106 C>W No ExAC
TOPMed
gnomAD
ClinGen
CA3694843
rs748621989
107 E>G No ExAC
TOPMed
gnomAD
ClinGen
rs1272460400
CA363055129
107 E>K No ClinGen
TOPMed
gnomAD
rs768959167
CA3694841
110 G>R No ExAC
TOPMed
gnomAD
ClinGen
CA363055077
rs1222753848
114 C>G No gnomAD
ClinGen
rs768328397
CA3694840
115 F>S No ExAC
gnomAD
ClinGen
VAR_022728
rs3734838
CA3694839
118 R>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
UniProt
dbSNP
rs3734838
CA136035050
118 R>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA136035039
rs779084186
118 R>H No ExAC
gnomAD
ClinGen
CA3694838
rs779084186
118 R>P No ExAC
gnomAD
ClinGen
rs3734838 118 R>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs3734838
CA136035055
118 R>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs779084186 118 R>S No ExAC
gnomAD
rs779084186 118 R>Y No ExAC
gnomAD
CA3694837
rs745435535
121 K>E No ClinGen
ExAC
gnomAD
CA136035034
rs745435535
121 K>Q No ExAC
gnomAD
ClinGen
rs531172172
CA3694836
122 D>N No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA3694835
rs368780137
123 H>N No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1387119088
CA363055019
123 H>R No TOPMed
gnomAD
ClinGen
CA363055007
rs1562050939
125 S>P No Ensembl
ClinGen
rs41272571
CA3694833
126 H>N No 1000Genomes
ExAC
gnomAD
ClinGen
rs758197634
CA3694832
126 H>P No ClinGen
ExAC
gnomAD
CA363054997
rs1427447848
126 H>Q No TOPMed
ClinGen
rs758197634
CA363054999
126 H>R No ExAC
gnomAD
ClinGen
CA3694831
rs34801993
RCV000956373
127 N>D No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
ClinVar
dbSNP
CA3694829
rs376929796
127 N>K No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA363054993
rs1419598058
127 N>T No TOPMed
ClinGen
CA363054984
rs1189017191
128 V>G No gnomAD
ClinGen
rs1466178606
CA363054981
129 S>G No gnomAD
ClinGen
rs559765568
CA363054963
131 I>M No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA3694828
rs140830838
131 I>T No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA363054961
rs762330247
132 E>* No ClinGen
ExAC
gnomAD
rs762330247
CA3694826
132 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA3694825
rs774774064
134 A>P No ExAC
gnomAD
ClinGen
CA363054937
rs1346741503
135 A>D No gnomAD
ClinGen
CA363054942
rs1434752467
135 A>T No TOPMed
ClinGen
CA363054934
rs1298733193
136 Q>* No gnomAD
ClinGen
rs769148827
CA3694824
138 Y>F No ExAC
gnomAD
ClinGen
rs1562049343
CA363054891
140 G>E No Ensembl
ClinGen
CA3694808
rs761947673
141 Q>H No ExAC
gnomAD
ClinGen
rs1169521500
CA363054875
142 I>M No gnomAD
ClinGen
CA3694807
rs751625566
143 Q>E No ExAC
gnomAD
ClinGen
CA3694806
rs764636053
143 Q>R No ExAC
gnomAD
ClinGen
rs1315459556
CA363054859
145 Q>E No gnomAD
ClinGen
CA136034416
rs867386342
147 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No Ensembl
ClinGen
NCI-TCGA
rs147682149
CA3694805
148 V>A No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1252074546
CA363054828
149 L>F No gnomAD
ClinGen
CA363054830
rs1485097968
149 L>S No gnomAD
ClinGen
CA3694804
rs145235892
151 Q>L No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA3694801
rs776077467
153 E>K No ExAC
gnomAD
ClinGen
rs1382645473
CA363054788
155 E>Q No TOPMed
ClinGen
CA363054776
rs770700226
156 T>I No ExAC
gnomAD
ClinGen
CA3694798
rs770700226
156 T>R No ExAC
gnomAD
ClinGen
CA136034348
rs868724653
157 V>A No Ensembl
ClinGen
rs746573009
CA3694797
157 V>I No ExAC
gnomAD
ClinGen
rs1290295845
CA363054769
158 Q>* No gnomAD
ClinGen
rs1408187593
CA363054767
158 Q>R No gnomAD
ClinGen
rs777392736
CA3694795
161 A>T No ExAC
gnomAD
ClinGen
CA136034319
rs868279091
162 Q>* No Ensembl
ClinGen
CA363054725
rs1458257899
165 H>N No gnomAD
ClinGen
TCGA novel 165 H>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1029491931
CA136034303
165 H>Q No Ensembl
ClinGen
CA363054723
rs1458257899
165 H>Y No gnomAD
ClinGen
TCGA novel 166 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA136034293
rs995997535
166 R>S No Ensembl
ClinGen
CA363054712
rs1351543832
167 V>I No gnomAD
ClinGen
rs1474849020
CA363054706
168 D>Y No gnomAD
ClinGen
CA3694789
rs747995028
169 V>I No ExAC
ClinGen
rs199773605
CA3694787
170 F>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs1183758709
CA363054674
171 T>M No gnomAD
ClinGen
rs778649015
CA3694767
172 D>V No ExAC
gnomAD
ClinGen
CA136033340
rs894149094
173 Q>H No TOPMed
gnomAD
ClinGen
TCGA novel 175 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3694766
rs768626137
175 E>G No ExAC
TOPMed
gnomAD
ClinGen
CA363053595
rs1582508370
177 E>K No Ensembl
ClinGen
CA363053565
rs1235616142
179 Q>K No ClinGen
gnomAD
CA3694762
rs757504038
183 T>I No ExAC
gnomAD
ClinGen
rs751735509
CA3694761
184 E>D No ExAC
gnomAD
ClinGen
TCGA novel 184 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA363053443
rs1365804714
187 L>P No gnomAD
ClinGen
rs752813072
CA3694758
191 V>I No ExAC
TOPMed
gnomAD
ClinGen
rs146377967
CA3694757
192 L>P No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 193 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 193 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3694756
rs374444776
194 E>K No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA136033256
rs374444776
194 E>Q No ESP
ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 195 E>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1392923954
CA363053315
196 K>N No ClinGen
gnomAD
CA3694754
rs149333656
197 N>H No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs760423988
CA3694753
198 F>I No ExAC
gnomAD
ClinGen
CA3694751
rs566125613
201 S>P No 1000Genomes
ExAC
gnomAD
ClinGen
CA3694749
rs761288235
202 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs767058142
CA3694750
202 R>W No ExAC
TOPMed
gnomAD
ClinGen
rs749185417
CA3694746
204 Y>S No ExAC
gnomAD
ClinGen
CA3694745
rs775289562
205 W>L No ExAC
gnomAD
ClinGen
rs1198184499
CA363053241
205 W>R No gnomAD
ClinGen
rs1335922024
CA363053230
206 L>P No gnomAD
ClinGen
TCGA novel 209 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA363053205
rs1267605789
210 G>R No ClinGen
TOPMed
gnomAD
rs758629174
CA3694741
211 T>K No ExAC
TOPMed
gnomAD
ClinGen
rs758629174
CA3694742
211 T>M No ExAC
TOPMed
gnomAD
ClinGen
COSM223067
CA136033088
rs1003952845
213 A>T skin [Cosmic] No TOPMed
ClinGen
cosmic curated
rs779017353
COSM342534
CA3694739
213 A>V lung [Cosmic] No ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
rs754346777
CA3694737
216 H>N No ExAC
gnomAD
ClinGen
CA363053170
rs754346777
216 H>Y No ExAC
gnomAD
ClinGen
CA363053159
rs1416144622
217 Y>C No gnomAD
ClinGen
CA136033072
rs762136544
219 A>P No TOPMed
gnomAD
ClinGen
TCGA novel 219 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3694736
rs535625855
220 S>P No 1000Genomes
ExAC
gnomAD
ClinGen
CA363053124
rs756479429
223 P>A No ExAC
TOPMed
gnomAD
ClinGen
rs750812506
CA3694734
223 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
CA3694735
rs756479429
223 P>S No ExAC
TOPMed
gnomAD
ClinGen
rs1166538145
CA363053118
224 Q>P No gnomAD
ClinGen
rs1166538145
CA363053117
224 Q>R No gnomAD
ClinGen
rs1373946924
CA363053102
226 N>S No gnomAD
ClinGen
CA3694732
rs761494388
227 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA136033032
rs761494388
227 D>Y No ExAC
TOPMed
gnomAD
ClinGen
rs1189676244
CA363053082
229 K>R No gnomAD
ClinGen
rs1335078530
CA363053068
231 L>F No TOPMed
ClinGen
rs2523989
CA3694730
VAR_022729
232 V>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
UniProt
dbSNP
CA3694729
rs762887964
233 D>Y No ExAC
gnomAD
ClinGen
CA3694728
rs35775852
VAR_052140
RCV000956372
235 L>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
ClinVar
UniProt
dbSNP
CA3694727
rs137941449
RCV000884600
236 K>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
ClinVar
dbSNP
CA3694726
rs745724542
241 M>I No ExAC
gnomAD
ClinGen
rs1201536503
CA363052994
242 P>L No TOPMed
ClinGen
CA363052986
rs1239845502
COSM1442968
243 P>L large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
CA3694725
rs138900010
245 Q>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs138900010
RCV000946925
CA3694724
245 Q>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
ClinVar
dbSNP
CA3694723
rs748364202
246 L>P No ExAC
gnomAD
ClinGen
rs778884028
CA3694722
248 E>Q No ExAC
ClinGen
CA3694705
rs761956623
251 K>* No ExAC
ClinGen
CA3694704
rs774568018
252 V>I No ExAC
gnomAD
ClinGen
rs569733107
CA3694703
253 V>I No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA3694680
rs377565993
257 S>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 259 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA363052669
rs1562040927
259 E>K No Ensembl
ClinGen
rs1582496321
CA363052624
262 F>Y No Ensembl
ClinGen
CA363052597
rs1252959346
264 N>H No ClinGen
TOPMed
CA3694677
rs576827292
266 T>I No 1000Genomes
ExAC
gnomAD
ClinGen
CA3694678
rs576827292
266 T>N No 1000Genomes
ExAC
gnomAD
ClinGen
rs776217179
CA136031399
267 P>T No ClinGen
Ensembl
CA136031389
rs767127383
268 V>F No Ensembl
ClinGen
rs758082658
CA3694676
269 P>S No ExAC
gnomAD
ClinGen
rs1454903280
CA363052498
272 L>P No gnomAD
ClinGen
TCGA novel 273 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3694673
rs754446174
277 S>N No ExAC
TOPMed
gnomAD
ClinGen
CA136031373
rs918568451
278 E>K No Ensembl
ClinGen
rs143752017
CA3694672
279 A>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1288329930
CA363052379
280 K>N No gnomAD
ClinGen
CA363052338
rs2023472
CA363052340
283 H>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA363052348
rs1432938170
283 H>Y No TOPMed
ClinGen
rs548070214
CA3694670
284 D>N No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA3694669
rs750263089
284 D>V No ExAC
gnomAD
ClinGen
rs35975397
CA3694668
287 T>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA363052289
rs1170926585
287 T>I No ClinGen
TOPMed
gnomAD
CA363052259
CA363052261
rs568913329
289 S>R No 1000Genomes
ExAC
gnomAD
ClinGen
rs1417359425
CA363052251
290 L>P No gnomAD
ClinGen
rs879069874
CA136031357
291 K>E No Ensembl
ClinGen
CA136031352
rs985232935
292 K>I No TOPMed
gnomAD
ClinGen
rs142316069
CA3694647
300 D>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1049090070
CA136030074
301 R>K No Ensembl
ClinGen
CA3694646
rs766917061
302 K>R No ExAC
gnomAD
ClinGen
CA3694643
rs761261297
305 E>K No ExAC
gnomAD
ClinGen
TCGA novel 306 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1424861270
CA363051658
307 R>* No ClinGen
gnomAD
TCGA novel 307 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs930690673
CA136030068
307 R>K No gnomAD
ClinGen
CA3694642
rs773644902
308 F>Y No ExAC
gnomAD
ClinGen
rs1196894571
CA363051620
312 M>L No TOPMed
ClinGen
CA363051607
rs1160754437
313 N>K No ClinGen
gnomAD
TCGA novel 314 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 316 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 316 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3694639
rs181406164
317 M>T No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA3694640
rs748571221
317 M>V No ExAC
gnomAD
ClinGen
CA3694630
rs777395098
320 W>C No ExAC
gnomAD
ClinGen
rs1436567536
CA363051558
320 W>R No TOPMed
ClinGen
CA3694629
rs755255820
321 G>A No ExAC
gnomAD
ClinGen
CA363051535
rs755255820
321 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
CA363051529
rs1443647788
322 L>F No gnomAD
ClinGen
rs1014699253
CA136029838
325 K>N No TOPMed
ClinGen
CA3694628
rs753951510
326 N>S No ExAC
gnomAD
ClinGen
rs1362915292
CA363051490
327 N>D No ClinGen
gnomAD
rs1005435065
CA136029834
328 H>N No TOPMed
ClinGen
TCGA novel 328 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3694627
rs766487890
331 N>T No ExAC
TOPMed
gnomAD
ClinGen
rs760813066
CA3694626
335 E>* No ExAC
gnomAD
ClinGen
CA363051360
rs1388640225
336 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No TOPMed
ClinGen
NCI-TCGA
TCGA novel
rs1193497449
CA363051356
337 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
gnomAD
CA3694624
rs147666096
339 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1263897596
CA363051334
340 S>F No gnomAD
ClinGen
rs1562031756 342 G>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs762277380
CA3694623
342 G>S No ExAC
gnomAD
ClinGen
rs777641008
CA3694613
343 G>R No ClinGen
ExAC
gnomAD
rs752535043
CA3694611
344 R>T No ExAC
gnomAD
ClinGen
rs1428063846
CA363051296
345 T>N No gnomAD
ClinGen
CA3694610
rs780199967
346 T>A No ExAC
gnomAD
ClinGen
CA363051293
rs780199967
346 T>P No ExAC
gnomAD
ClinGen
rs1484824091
CA363051282
347 S>P No gnomAD
ClinGen
rs139795173
CA3694608
348 G>E No 1000Genomes
ExAC
gnomAD
ClinGen
CA363051268
COSM1311946
rs1339541987
348 G>R urinary_tract [Cosmic] No gnomAD
ClinGen
cosmic curated
TCGA novel 351 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA363051209
rs1450042714
352 H>R No TOPMed
gnomAD
ClinGen
CA136029734
rs1053653591
353 H>R No Ensembl
ClinGen
CA136029730
rs151203529
354 S>C No ESP
TOPMed
gnomAD
ClinGen
CA3694605
rs751943825
356 A>T No ClinGen
ExAC
gnomAD
CA3694604
rs764655494
357 P>A No ExAC
gnomAD
ClinGen
TCGA novel 363 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1030499846
CA136029716
363 R>Q No TOPMed
gnomAD
ClinGen
CA363051011
rs1166595737
368 G>R No gnomAD
ClinGen
CA3694601
rs763283423
370 V>D No ExAC
gnomAD
ClinGen
rs1190188063
CA363050969
371 T>A No gnomAD
ClinGen
CA363050960
rs1474329768
371 T>I No gnomAD
ClinGen
rs765020449
CA3694599
372 F>L No ExAC
gnomAD
ClinGen
rs1562031339
CA363050913
375 C>Y No Ensembl
ClinGen
CA363050878
rs1252426896
378 A>D No gnomAD
ClinGen
CA363050845
rs142152030
380 Y>* No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1273239270 381 D>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1332199997
CA363050786
385 G>C No ClinGen
gnomAD
CA3694594
rs770512317
387 G>E No ExAC
gnomAD
ClinGen
CA3694593
rs746951031
388 A>P No ExAC
gnomAD
ClinGen
CA3694592
rs773093443
389 S>N No ExAC
gnomAD
ClinGen
CA3694591
rs772034664
389 S>R No ExAC
gnomAD
ClinGen
CA3694590
rs747944187
391 Q>E No ExAC
gnomAD
ClinGen
CA3694589
rs778737707
392 D>G No ExAC
gnomAD
ClinGen
CA363050743
rs1167179918
392 D>Y No gnomAD
ClinGen
CA363050738
rs1325990483
393 T>A No TOPMed
ClinGen
rs1413176743
CA363050733
393 T>M No gnomAD
ClinGen
CA363050722
rs1159309822
395 T>S No TOPMed
gnomAD
ClinGen
CA363050711
rs1471293563
396 F>L No gnomAD
ClinGen
rs756360360
CA3694588
399 A>V No ExAC
TOPMed
gnomAD
ClinGen
rs1253608033
CA363050685
401 S>P No gnomAD
ClinGen
CA363050661
rs1288541879
404 L>F No gnomAD
ClinGen
CA3694584
CA363050651
rs751644208
405 H>Q No ExAC
TOPMed
gnomAD
ClinGen
rs1562030963
CA363050653
405 H>R No Ensembl
ClinGen
CA3694583
rs764555486
406 A>V No ClinGen
ExAC
gnomAD
rs758905330
CA3694582
407 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
rs1372360250
CA363050631
409 S>N No gnomAD
ClinGen
CA3694581
rs753030883
409 S>R No ExAC
gnomAD
ClinGen
RCV000881999
CA3694580
rs146885411
410 E>* No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
ClinVar
dbSNP
CA363050628
rs146885411
410 E>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1488305542
CA363050609
412 L>P No TOPMed
ClinGen
TCGA novel 412 L>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1319102801
CA363050606
413 T>A No gnomAD
ClinGen
rs1208235364
CA363050598
414 A>E No TOPMed
ClinGen
CA136029663
rs371185132
415 I>M No ESP
TOPMed
gnomAD
ClinGen
CA3694578
rs776360004
416 R>G No ClinGen
ExAC
gnomAD
rs766128385
CA3694577
417 A>P No ExAC
gnomAD
ClinGen
rs1428825350
CA363050575
418 W>L No TOPMed
ClinGen
TCGA novel 421 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1116221 421 E>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_019962
rs1116221
CA3694575
421 E>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
UniProt
dbSNP
rs1395460734
CA363050531
424 S>L No gnomAD
ClinGen

No associated diseases with Q9BZY9

4 regional properties for Q9BZY9

Type Name Position InterPro Accession
domain Death domain 14 - 106 IPR000488
domain Protein kinase domain 165 - 452 IPR000719
domain Interleukin-1 receptor-associated kinase 3, pseudokinase domain 171 - 446 IPR042698
domain IRAK3, death domain 15 - 103 IPR042747

Functions

Description
EC Number 2.3.2.27 Aminoacyltransferases
Subcellular Localization
  • Cytoplasm
  • Mitochondrion
  • Predominantly expressed in the cytoplasm but a fraction is associated with the mitochondria (PubMed:18773414)
  • Recruited t omitochondria after viral infection (PubMed:27992402)
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.
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.

3 GO annotations of molecular function

Name Definition
transcription coactivator activity A transcription coregulator activity that activates or increases 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. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators 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. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator.
ubiquitin protein ligase activity Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues.
zinc ion binding Binding to a zinc ion (Zn).

7 GO annotations of biological process

Name Definition
innate immune response Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
negative regulation of viral entry into host cell Any process that stops, prevents, or reduces the frequency, rate or extent of the entry of viral entry into a host cell.
negative regulation of viral transcription Any process that stops, prevents, or reduces the frequency, rate or extent of viral transcription.
positive regulation of DNA-binding transcription factor activity Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription.
protein ubiquitination The process in which one or more ubiquitin groups are added to a protein.
regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
viral release from host cell The dissemination of mature viral particles from the host cell, e.g. by cell lysis or the budding of virus particles from the cell membrane.

49 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q5E9G4 TRIM10 Tripartite motif-containing protein 10 Bos taurus (Bovine) PR
Q2T9Z0 TRIM17 E3 ubiquitin-protein ligase TRIM17 Bos taurus (Bovine) PR
E1BJS7 TRIM71 E3 ubiquitin-protein ligase TRIM71 Bos taurus (Bovine) PR
Q7YRV4 TRIM21 E3 ubiquitin-protein ligase TRIM21 Bos taurus (Bovine) PR
Q1PRL4 TRIM71 E3 ubiquitin-protein ligase TRIM71 Gallus gallus (Chicken) PR
Q7YR32 TRIM10 Tripartite motif-containing protein 10 Pan troglodytes (Chimpanzee) PR
Q9BTV5 FSD1 Fibronectin type III and SPRY domain-containing protein 1 Homo sapiens (Human) PR
Q9UJV3 MID2 Probable E3 ubiquitin-protein ligase MID2 Homo sapiens (Human) PR
P29590 PML Protein PML Homo sapiens (Human) PR
Q9NQ86 TRIM36 E3 ubiquitin-protein ligase TRIM36 Homo sapiens (Human) PR
Q86UV6 TRIM74 Tripartite motif-containing protein 74 Homo sapiens (Human) PR
Q2Q1W2 TRIM71 E3 ubiquitin-protein ligase TRIM71 Homo sapiens (Human) PR
Q9BXM9 FSD1L FSD1-like protein Homo sapiens (Human) PR
Q5EBN2 TRIM61 Putative tripartite motif-containing protein 61 Homo sapiens (Human) PR
Q86UV7 TRIM73 Tripartite motif-containing protein 73 Homo sapiens (Human) PR
Q86XT4 TRIM50 E3 ubiquitin-protein ligase TRIM50 Homo sapiens (Human) PR
Q8N9V2 TRIML1 Probable E3 ubiquitin-protein ligase TRIML1 Homo sapiens (Human) PR
Q9H2S5 RNF39 RING finger protein 39 Homo sapiens (Human) PR
Q6ZMU5 TRIM72 Tripartite motif-containing protein 72 Homo sapiens (Human) PR
Q9UPQ4 TRIM35 E3 ubiquitin-protein ligase TRIM35 Homo sapiens (Human) PR
Q9C029 TRIM7 E3 ubiquitin-protein ligase TRIM7 Homo sapiens (Human) PR
O15553 MEFV Pyrin Homo sapiens (Human) SS
A6NCK2 TRIM43B Tripartite motif-containing protein 43B Homo sapiens (Human) PR
P19474 TRIM21 E3 ubiquitin-protein ligase TRIM21 Homo sapiens (Human) PR
Q14142 TRIM14 Tripartite motif-containing protein 14 Homo sapiens (Human) PR
A6NK02 TRIM75 Tripartite motif-containing protein 75 Homo sapiens (Human) PR
Q9WUH5 Trim10 Tripartite motif-containing protein 10 Mus musculus (Mouse) PR
Q8BZT2 Sh3rf2 E3 ubiquitin-protein ligase SH3RF2 Mus musculus (Mouse) PR
Q7TPM3 Trim17 E3 ubiquitin-protein ligase TRIM17 Mus musculus (Mouse) PR
Q1XH17 Trim72 Tripartite motif-containing protein 72 Mus musculus (Mouse) PR
Q60953 Pml Protein PML Mus musculus (Mouse) PR
Q9JJ26 Mefv Pyrin Mus musculus (Mouse) SS
Q99PQ1 Trim12a Tripartite motif-containing protein 12A Mus musculus (Mouse) PR
Q61510 Trim25 E3 ubiquitin/ISG15 ligase TRIM25 Mus musculus (Mouse) PR
Q810I2 Trim50 E3 ubiquitin-protein ligase TRIM50 Mus musculus (Mouse) PR
Q1PSW8 Trim71 E3 ubiquitin-protein ligase TRIM71 Mus musculus (Mouse) PR
Q3TL54 Trim43a Tripartite motif-containing protein 43A Mus musculus (Mouse) PR
P86449 Trim43c Tripartite motif-containing protein 43C Mus musculus (Mouse) PR
O77666 TRIM26 Tripartite motif-containing protein 26 Sus scrofa (Pig) PR
O19085 TRIM10 Tripartite motif-containing protein 10 Sus scrofa (Pig) PR
Q865W2 TRIM50 E3 ubiquitin-protein ligase TRIM50 Sus scrofa (Pig) PR
Q920M2 Rnf39 RING finger protein 39 Rattus norvegicus (Rat) PR
Q9JJ25 Mefv Pyrin Rattus norvegicus (Rat) SS
A0JPQ4 Trim72 Tripartite motif-containing protein 72 Rattus norvegicus (Rat) PR
Q810I1 Trim50 E3 ubiquitin-protein ligase TRIM50 Rattus norvegicus (Rat) PR
D3ZVM4 Trim71 E3 ubiquitin-protein ligase TRIM71 Rattus norvegicus (Rat) PR
F6QEU4 trim71 E3 ubiquitin-protein ligase TRIM71 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q640S6 trim72 Tripartite motif-containing protein 72 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
E7FAM5 trim71 E3 ubiquitin-protein ligase TRIM71 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MASGQFVNKL QEEVICPICL DILQKPVTID CGHNFCLKCI TQIGETSCGF FKCPLCKTSV
70 80 90 100 110 120
RKNAIRFNSL LRNLVEKIQA LQASEVQSKR KEATCPRHQE MFHYFCEDDG KFLCFVCRES
130 140 150 160 170 180
KDHKSHNVSL IEEAAQNYQG QIQEQIQVLQ QKEKETVQVK AQGVHRVDVF TDQVEHEKQR
190 200 210 220 230 240
ILTEFELLHQ VLEEEKNFLL SRIYWLGHEG TEAGKHYVAS TEPQLNDLKK LVDSLKTKQN
250 260 270 280 290 300
MPPRQLLEDI KVVLCRSEEF QFLNPTPVPL ELEKKLSEAK SRHDSITGSL KKFKDQLQAD
310 320 330 340 350 360
RKKDENRFFK SMNKNDMKSW GLLQKNNHKM NKTSEPGSSS AGGRTTSGPP NHHSSAPSHS
370 380 390 400 410 420
LFRASSAGKV TFPVCLLASY DEISGQGASS QDTKTFDVAL SEELHAALSE WLTAIRAWFC
EVPSS