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 Q9HBK9

Entry ID Method Resolution Chain Position Source
AF-Q9HBK9-F1 Predicted AlphaFoldDB

267 variants for Q9HBK9

Variant ID(s) Position Change Description Diseaes Association Provenance
rs773603561
CA5669874
3 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs368195232
CA5669875
6 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA377941997
rs1216089695
9 I>L No ClinGen
gnomAD
rs774957352
CA5669878
10 Q>* No ClinGen
ExAC
gnomAD
rs774957352
CA5669877
10 Q>K No ClinGen
ExAC
gnomAD
CA377942020
rs1176168625
12 D>G No ClinGen
gnomAD
CA5669880
rs763634134
14 Q>H No ClinGen
ExAC
gnomAD
CA377942049
rs1308736476
15 T>A No ClinGen
gnomAD
CA377942050
rs1308736476
15 T>S No ClinGen
gnomAD
CA377942076
rs1460423938
19 Q>K No ClinGen
TOPMed
CA377942084
rs1406708151
20 V>M No ClinGen
TOPMed
gnomAD
CA5669902
rs372675994
23 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5669904
rs766934575
25 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1189640899
CA377942120
26 D>N No ClinGen
TOPMed
gnomAD
rs1435271717
CA377942128
27 L>I No ClinGen
gnomAD
rs1237767710
CA377942131
27 L>R No ClinGen
gnomAD
rs1317257468
CA377942143
29 T>A No ClinGen
TOPMed
rs1184690622
CA377942145
29 T>I No ClinGen
gnomAD
CA377942154
COSM3806365
rs760664254
30 N>K breast [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA212323639
rs868851524
31 G>S No ClinGen
Ensembl
rs1173046166
CA377942159
31 G>V No ClinGen
gnomAD
rs1590216954
CA377942168
32 C>W No ClinGen
Ensembl
CA377942175
rs1373736285
34 T>A No ClinGen
gnomAD
CA377942176
rs1373736285
34 T>P No ClinGen
gnomAD
TCGA novel 38 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1590216967
CA377942211
39 V>G No ClinGen
Ensembl
TCGA novel 39 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1326205388
CA377942214
40 P>S No ClinGen
gnomAD
rs369401059
CA5669908
41 K>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1363223825
CA377942243
44 R>P No ClinGen
TOPMed
gnomAD
rs1363223825
CA377942242
44 R>Q No ClinGen
TOPMed
gnomAD
CA377942241
rs1564789532
44 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA5669909
rs755170490
45 E>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs964288395
CA212323665
45 E>G No ClinGen
gnomAD
rs755170490
CA212323657
45 E>K No ClinGen
ExAC
gnomAD
rs779145933
CA5669910
46 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA377942250
rs1408514035
46 A>T No ClinGen
TOPMed
rs752948206
CA5669911
50 V>I No ClinGen
ExAC
gnomAD
CA5669912
rs527650795
51 H>N No ClinGen
1000Genomes
ExAC
gnomAD
CA5669913
rs201702937
51 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs747410528
CA5669914
54 V>G No ClinGen
ExAC
gnomAD
rs1027298145
CA212323686
55 A>T No ClinGen
Ensembl
rs771537950
CA5669915
57 R>K No ClinGen
ExAC
gnomAD
CA5669937
rs80317306
61 C>W No ClinGen
ExAC
TOPMed
gnomAD
CA377942749
rs1590218336
62 G>D No ClinGen
Ensembl
CA377942760
rs1564790223
64 V>E No ClinGen
Ensembl
CA377942761
rs1564790223
64 V>G No ClinGen
Ensembl
rs770222107
CA5669940
71 N>D No ClinGen
ExAC
gnomAD
rs556868245
CA212279032
73 W>L No ClinGen
Ensembl
rs1323594024
CA377942836
75 L>V No ClinGen
gnomAD
rs1334678689
CA377942848
76 D>E No ClinGen
gnomAD
CA212279048
rs549165947
78 G>D No ClinGen
TOPMed
rs1280998811
CA377942871
80 G>E No ClinGen
gnomAD
rs200487609
CA5669942
81 S>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1232508951
CA377942880
81 S>R No ClinGen
gnomAD
CA377942887
rs1336806206
83 R>G No ClinGen
gnomAD
TCGA novel 84 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772572895
CA5669944
85 C>F No ClinGen
ExAC
TOPMed
gnomAD
rs968300059
CA212279053
88 L>F No ClinGen
TOPMed
gnomAD
CA5669945
rs144713814
89 S>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs376960692
CA212279073
90 Q>* No ClinGen
ESP
TOPMed
gnomAD
CA377942939
rs1287204760
90 Q>H No ClinGen
TOPMed
CA212279077
rs200044145
90 Q>L No ClinGen
1000Genomes
rs776502872
CA5669947
93 G>S No ClinGen
ExAC
gnomAD
CA377942969
rs1387459327
95 K>R No ClinGen
gnomAD
rs759484385
CA5669948
98 V>M No ClinGen
ExAC
gnomAD
rs764946632
CA5669949
99 T>A No ClinGen
ExAC
gnomAD
TCGA novel 102 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA377943018
rs763075282
103 M>L No ClinGen
ExAC
gnomAD
CA5669951
rs763075282
103 M>V No ClinGen
ExAC
gnomAD
CA5669952
rs764428592
104 T>I No ClinGen
ExAC
gnomAD
CA212279134
rs768336799
106 G>D No ClinGen
gnomAD
CA5669954
rs757323706
106 G>S No ClinGen
ExAC
gnomAD
rs1322002646
CA377943045
107 Q>* No ClinGen
gnomAD
CA5669967
rs769787447
110 V>A No ClinGen
ExAC
gnomAD
CA5669968
rs775114350
112 E>Q No ClinGen
ExAC
gnomAD
CA5669969
rs762851680
114 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA377943124
rs1324570867
116 D>G No ClinGen
gnomAD
rs1294730152
CA377943121
116 D>Y No ClinGen
gnomAD
CA5669971
rs774570325
117 Y>C No ClinGen
ExAC
gnomAD
CA5669970
rs200488263
117 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1026219260
CA212279343
118 H>L No ClinGen
TOPMed
gnomAD
CA5669972
rs762143284
118 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1377355848
CA377943178
119 M>T No ClinGen
TOPMed
CA5669973
rs767695284
119 M>V No ClinGen
ExAC
gnomAD
CA5669976
rs750599990
121 K>R No ClinGen
ExAC
CA377943234
rs1260122867
122 Y>C No ClinGen
TOPMed
gnomAD
rs767043343
CA5669978
125 Q>E No ClinGen
ExAC
gnomAD
rs754325734
CA5669979
125 Q>P No ClinGen
ExAC
gnomAD
TCGA novel 127 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA377943328
rs1360575705
128 N>D No ClinGen
gnomAD
CA5669983
rs756960577
134 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1258963773
CA377943433
134 G>R No ClinGen
TOPMed
gnomAD
rs112056792
CA212279381
136 I>T No ClinGen
gnomAD
CA212279382
rs79523510
137 E>* No ClinGen
Ensembl
rs1363948089
CA377943491
137 E>G No ClinGen
TOPMed
rs762165707
CA212279386
139 L>S No ClinGen
TOPMed
CA377943522
rs1232246567
139 L>V No ClinGen
gnomAD
rs570261906
CA5669984
142 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs745420214
CA5669985
143 G>* No ClinGen
ExAC
gnomAD
CA5669986
rs769693854
144 I>T No ClinGen
ExAC
gnomAD
CA377943607
rs1487092868
147 E>K No ClinGen
gnomAD
CA377943620
rs1590218704
148 S>N No ClinGen
Ensembl
CA5669987
rs779988945
149 H>R No ClinGen
ExAC
gnomAD
CA377943681
rs1433349197
151 I>T No ClinGen
TOPMed
gnomAD
rs1426686843
CA377943672
151 I>V No ClinGen
gnomAD
CA5669989
rs768444358
152 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA5669990
rs768444358
152 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA377943976
rs1590219383
154 S>* No ClinGen
Ensembl
rs765621406
CA5670005
155 N>H No ClinGen
ExAC
gnomAD
CA377943981
rs1216109829
155 N>T No ClinGen
gnomAD
rs753068101
CA5670006
156 C>R No ClinGen
ExAC
gnomAD
CA377943988
rs1488561502
156 C>Y No ClinGen
gnomAD
CA377944006
rs1176256031
159 N>D No ClinGen
gnomAD
rs1248043014
CA377944027
160 L>F No ClinGen
gnomAD
rs1564790849
CA377944045
161 V>E No ClinGen
Ensembl
rs1404281913
CA377944053
162 P>A No ClinGen
TOPMed
gnomAD
rs1416924116
CA377944076
163 D>E No ClinGen
gnomAD
rs1590219407
CA377944094
165 Q>* No ClinGen
Ensembl
rs1166838492
CA377944112
166 Q>* No ClinGen
gnomAD
rs563943815
CA5670008
166 Q>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs780869263
CA5670009
167 V>M No ClinGen
ExAC
gnomAD
rs750094511
CA5670010
170 E>K No ClinGen
ExAC
gnomAD
rs538040244
CA212280174
COSM1345517
173 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs35232887
CA5670011
VAR_027392
173 R>W frequency in African-Americans 0.008; not detected in Caucasian-Americans; enzyme activity is 31% of wild-type [UniProt] No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1230525541
CA377944357
176 K>T No ClinGen
gnomAD
CA5670033
rs748128749
177 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs758201841
CA5670034
180 E>K No ClinGen
ExAC
gnomAD
rs1344988369
CA377945018
182 Y>* No ClinGen
gnomAD
rs1484271472
CA595223244
182 Y>* No ClinGen
TOPMed
gnomAD
rs747221003
CA5670036
182 Y>H No ClinGen
ExAC
gnomAD
rs576986384
CA5670038
186 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5670039
rs745981957
188 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA212281192
rs946259068
189 S>T No ClinGen
TOPMed
gnomAD
CA5670041
rs775931783
191 E>V No ClinGen
ExAC
gnomAD
CA377945088
rs1448629465
193 P>S No ClinGen
TOPMed
CA5670042
rs763450550
197 R>S No ClinGen
ExAC
gnomAD
rs556211745
CA5670043
198 T>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5670045
rs774767962
200 K>E No ClinGen
ExAC
gnomAD
rs1245083068
CA377945137
200 K>R No ClinGen
TOPMed
gnomAD
rs868176114
CA212281206
202 L>S No ClinGen
Ensembl
CA5670046
rs370022454
CA5670047
203 W>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA377945158
rs1479096777
203 W>S No ClinGen
gnomAD
rs776081980
CA5670068
204 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs759240339
CA5670069
206 C>G No ClinGen
ExAC
TOPMed
gnomAD
CA212281811
rs1005762709
206 C>Y No ClinGen
TOPMed
CA5670070
rs764828334
208 G>D No ClinGen
ExAC
gnomAD
rs1564791785
CA377945194
208 G>S No ClinGen
Ensembl
rs1185308496
CA377945202
209 G>D No ClinGen
TOPMed
CA377945199
rs1258791235
209 G>S No ClinGen
TOPMed
rs556211181
CA212281829
210 A>V No ClinGen
Ensembl
rs752321300
CA5670071
213 W>* No ClinGen
ExAC
gnomAD
CA377945234
rs1263674298
214 K>E No ClinGen
gnomAD
CA5670072
rs758378765
215 E>* No ClinGen
ExAC
gnomAD
CA377945251
rs1210464364
216 L>R No ClinGen
gnomAD
rs777864791
CA212281844
216 L>V No ClinGen
Ensembl
CA5670073
rs192784484
217 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1207564649
CA377945258
218 V>I No ClinGen
gnomAD
CA5670074
rs531874964
221 Q>K No ClinGen
1000Genomes
ExAC
gnomAD
rs1242157572
CA377945314
223 I>L No ClinGen
TOPMed
rs1564791806
CA377945324
223 I>M No ClinGen
Ensembl
CA377945334
rs1218222079
224 G>E No ClinGen
TOPMed
CA5670075
rs370039020
226 C>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA377945387
rs1290660299
227 P>A No ClinGen
TOPMed
CA5670077
rs750549428
228 P>S No ClinGen
ExAC
gnomAD
rs756399134
COSM3396889
CA5670078
229 R>C Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs896840873
CA212281856
229 R>H No ClinGen
TOPMed
gnomAD
rs756399134
CA377945415
229 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA5670079
rs183878464
233 A>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5670081
rs188603798
234 N>D No ClinGen
1000Genomes
ExAC
gnomAD
CA377945500
rs1310348676
234 N>K No ClinGen
gnomAD
CA5670082
rs779354277
235 L>P No ClinGen
ExAC
gnomAD
CA377945527
rs1340208767
236 I>T No ClinGen
gnomAD
rs748695393
CA5670083
236 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1363938932
CA377945659
244 E>K No ClinGen
TOPMed
CA212281862
rs769964483
246 V>D No ClinGen
Ensembl
rs952889240
CA212281867
247 I>V No ClinGen
Ensembl
rs201628647
CA5670087
248 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs779064702
CA5670102
250 C>G No ClinGen
ExAC
gnomAD
CA5670103
rs748589961
251 R>C No ClinGen
ExAC
gnomAD
rs139656545
CA5670104
251 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1590221596
CA377945839
255 A>S No ClinGen
Ensembl
rs1458578761
CA377945847
256 T>I No ClinGen
TOPMed
gnomAD
CA377945850
rs1158289545
257 F>L No ClinGen
gnomAD
rs1386310668
CA377945859
258 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1460805924
CA377945862
258 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs559312927
CA212282067
CA5670105
261 K>N No ClinGen
1000Genomes
ExAC
gnomAD
CA377945887
rs1321238990
262 H>R No ClinGen
gnomAD
CA5670106
rs747427312
263 S>A No ClinGen
ExAC
gnomAD
rs771442515
CA5670107
263 S>C No ClinGen
ExAC
gnomAD
CA377945896
rs1303752102
264 K>E No ClinGen
gnomAD
CA5670109
rs762696583
266 G>R No ClinGen
ExAC
gnomAD
rs1266663351
CA377945916
267 P>S No ClinGen
gnomAD
rs768221077
CA5670112
268 T>N No ClinGen
ExAC
gnomAD
CA5670113
rs773965312
269 K>T No ClinGen
ExAC
TCGA novel 270 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1268203047
CA377945950
272 Q>P No ClinGen
TOPMed
gnomAD
rs1238646346
CA377945959
273 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA5670115
rs761629464
274 I>L No ClinGen
ExAC
gnomAD
rs750353278
CA5670117
278 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1433440438
CA377945999
279 I>N No ClinGen
TOPMed
gnomAD
CA377945997
rs1311891557
279 I>V No ClinGen
TOPMed
CA5670118
CA377946009
rs760424988
281 G>R No ClinGen
ExAC
gnomAD
rs1409508111
CA377946017
282 H>R No ClinGen
gnomAD
CA212282162
rs1006659023
287 M>I No ClinGen
TOPMed
gnomAD
CA377946054
rs11191439
287 M>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5670120
VAR_027393
rs11191439
287 M>T frequency in African-Americans 0.108 and Caucasian-Americans 0.100; enzyme activity is 350% of wild-type [UniProt] No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA377946066
rs1456502789
289 D>Y No ClinGen
gnomAD
rs755252196
CA5670121
290 A>D No ClinGen
ExAC
gnomAD
CA5670122
rs372316717
291 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs967902054
CA212282185
294 F>I No ClinGen
TOPMed
CA5670123
rs752861775
295 K>E No ClinGen
ExAC
rs376489676
CA5670139
297 G>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5670140
rs200456819
297 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759723918
CA5670141
300 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs765543616
CA5670143
302 V>A No ClinGen
ExAC
gnomAD
CA377947603
rs1359617892
303 D>G No ClinGen
gnomAD
rs973756888
CA212287367
305 E>* No ClinGen
TOPMed
gnomAD
TCGA novel 305 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
VAR_027394
rs34556438
CA5670144
306 T>I frequency in Caucasian-Americans 0.008; not detected in African-Americans [UniProt] No ClinGen
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA377947677
rs1483898196
307 A>V No ClinGen
TOPMed
gnomAD
CA377947682
rs1204911434
308 A>T No ClinGen
gnomAD
rs758462910
CA5670145
308 A>V No ClinGen
ExAC
gnomAD
CA377947697
rs1329107684
309 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA5670148
rs757895180
COSM914271
311 K>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1590228456
CA377947825
317 Q>* No ClinGen
Ensembl
CA5670151
rs202060999
317 Q>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 318 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA377947859
rs1412776096
319 F>I No ClinGen
gnomAD
CA212287410
rs982624494
319 F>L No ClinGen
gnomAD
CA5670152
rs778590347
320 L>P No ClinGen
ExAC
gnomAD
CA377947891
rs1424241173
321 I>N No ClinGen
gnomAD
rs1450814342
CA377947903
322 R>G No ClinGen
gnomAD
rs928210555
CA212287416
324 I>T No ClinGen
TOPMed
gnomAD
CA5670153
rs373467176
325 G>E No ClinGen
ESP
ExAC
gnomAD
rs185077443
CA5670154
326 E>D No ClinGen
1000Genomes
ExAC
gnomAD
CA377947961
rs1343799858
327 K>T No ClinGen
gnomAD
CA5670155
rs772768594
328 L>S No ClinGen
ExAC
gnomAD
CA377947979
rs1310276047
330 T>A No ClinGen
gnomAD
CA377948009
rs1343663349
334 C>R No ClinGen
gnomAD
rs1564795184
CA377948022
335 S>F No ClinGen
Ensembl
rs777191336
CA212287421
336 A>T No ClinGen
gnomAD
rs780298293
CA5670173
341 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs752381804
CA5670174
343 I>N No ClinGen
ExAC
TOPMed
gnomAD
CA212292851
rs752381804
343 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA5670176
rs777235719
345 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs924879665
CA212292876
346 P>L No ClinGen
Ensembl
CA5670177
rs369767870
349 L>F No ClinGen
ESP
ExAC
gnomAD
CA377949585
rs1564797685
351 E>D No ClinGen
Ensembl
CA377949591
rs1227102565
352 E>Q No ClinGen
TOPMed
CA5670179
rs781065600
355 S>N No ClinGen
ExAC
gnomAD
rs201071842
CA5670178
355 S>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA377949683
rs1347705188
357 K>E No ClinGen
gnomAD
CA377949691
rs1385632603
357 K>R No ClinGen
TOPMed
rs1438187710
CA377949716
358 S>F No ClinGen
gnomAD
rs1438187710
CA377949711
358 S>Y No ClinGen
gnomAD
CA377949741
rs1326666544
360 C>Y No ClinGen
gnomAD
CA212292911
rs943149808
362 P>L No ClinGen
TOPMed
rs1283609623
CA377949781
363 D>N No ClinGen
gnomAD
CA5670182
rs182365639
363 D>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs769572838
CA5670183
365 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA377949825
rs1564797715
365 A>V No ClinGen
Ensembl
rs1462257328
CA377949846
367 G>S No ClinGen
TOPMed
CA377949876
rs1590234330
368 C>W No ClinGen
Ensembl
CA5670185
rs763227721
369 C>R No ClinGen
ExAC
gnomAD
CA377949920
rs1374630100
371 T>A No ClinGen
TOPMed
rs1287846295
CA377950003
375 C>* No ClinGen
TOPMed
gnomAD

No associated diseases with Q9HBK9

1 regional properties for Q9HBK9

Type Name Position InterPro Accession
domain Methyltransferase domain 70 - 215 IPR025714

Functions

Description
EC Number 2.1.1.137 Methyltransferases
Subcellular Localization
  • Cytoplasm, cytosol
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

1 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

3 GO annotations of molecular function

Name Definition
arsenite methyltransferase activity Catalysis of the reaction: S-adenosyl-L-methionine + arsenite = S-adenosyl-L-homocysteine + methylarsonate.
methylarsonite methyltransferase activity Catalysis of the reaction: S-adenosyl-L-methionine + methylarsonite = S-adenosyl-L-homocysteine + dimethylarsinate.
methyltransferase activity Catalysis of the transfer of a methyl group to an acceptor molecule.

3 GO annotations of biological process

Name Definition
arsonoacetate metabolic process The chemical reactions and pathways involving arsonoacetate, a synthetic, organic compound containing a single arsenic atom. Arsonoacetate and other arsenic containing compounds are used in agricultural applications as animal feed additives, cotton defoliants and post-emergence grass herbicides.
methylation The process in which a methyl group is covalently attached to a molecule.
toxin metabolic process The chemical reactions and pathways involving a toxin, a poisonous compound (typically a protein) that is produced by cells or organisms and that can cause disease when introduced into the body or tissues of an organism.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q91WU5 As3mt Arsenite methyltransferase Mus musculus (Mouse) PR
Q8VHT6 As3mt Arsenite methyltransferase Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MAALRDAEIQ KDVQTYYGQV LKRSADLQTN GCVTTARPVP KHIREALQNV HEEVALRYYG
70 80 90 100 110 120
CGLVIPEHLE NCWILDLGSG SGRDCYVLSQ LVGEKGHVTG IDMTKGQVEV AEKYLDYHME
130 140 150 160 170 180
KYGFQASNVT FIHGYIEKLG EAGIKNESHD IVVSNCVINL VPDKQQVLQE AYRVLKHGGE
190 200 210 220 230 240
LYFSDVYTSL ELPEEIRTHK VLWGECLGGA LYWKELAVLA QKIGFCPPRL VTANLITIQN
250 260 270 280 290 300
KELERVIGDC RFVSATFRLF KHSKTGPTKR CQVIYNGGIT GHEKELMFDA NFTFKEGEIV
310 320 330 340 350 360
EVDEETAAIL KNSRFAQDFL IRPIGEKLPT SGGCSALELK DIITDPFKLA EESDSMKSRC
370
VPDAAGGCCG TKKSC