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 Q5VZE5

Entry ID Method Resolution Chain Position Source
7MX2 EM 364 A B 1-725 PDB
7RB3 EM 310 A B 28-725 PDB
AF-Q5VZE5-F1 Predicted AlphaFoldDB

355 variants for Q5VZE5

Variant ID(s) Position Change Description Diseaes Association Provenance
CA5107002
rs201727123
2 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5107003
rs770582929
5 A>P No ClinGen
ExAC
gnomAD
rs1376360183
CA374012191
6 S>Y No ClinGen
gnomAD
CA196028038
rs148048804
10 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA374012257
rs1339684979
15 E>D No ClinGen
gnomAD
rs760110240
CA5107008
15 E>G No ClinGen
ExAC
gnomAD
TCGA novel 15 E>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5107009
rs763748433
16 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA5107010
rs753435532
17 S>R No ClinGen
ExAC
gnomAD
CA196028039
rs75312270
20 E>G No ClinGen
Ensembl
CA5107011
rs757669473
21 K>E No ClinGen
ExAC
gnomAD
TCGA novel 21 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5107013
rs750780761
22 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA5107012
rs779182959
22 M>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 22 M>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA374012301
rs779182959
22 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA374012326
rs1328236099
25 S>N No ClinGen
TOPMed
rs1587542520
COSM1625204
CA374012333
26 N>D liver [Cosmic] No ClinGen
cosmic curated
Ensembl
CA196028040
rs909301177
26 N>S No ClinGen
TOPMed
gnomAD
rs141793339
CA5107014
28 N>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1410927580
CA374012389
34 Q>E No ClinGen
TOPMed
gnomAD
rs1434423007
CA374012397
35 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 38 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA196028041
rs972084249
38 E>D No ClinGen
Ensembl
rs1348985667
CA374012426
39 A>T No ClinGen
TOPMed
gnomAD
rs747094178
CA5107016
41 R>G No ClinGen
ExAC
gnomAD
CA196029687
rs370006365
52 K>N No ClinGen
ESP
CA5107067
rs752722386
63 I>V No ClinGen
ExAC
gnomAD
rs756160916
CA5107068
73 G>C No ClinGen
ExAC
gnomAD
rs577757092
CA5107070
75 I>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5107069
rs777879548
75 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA196029944
rs1052522576
76 G>* No ClinGen
Ensembl
CA374012742
rs1396175245
80 N>D No ClinGen
gnomAD
TCGA novel 82 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1219644995
CA374012762
83 V>I No ClinGen
TOPMed
CA5107071
rs186312968
84 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5107073
rs374811138
85 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA196029945
rs374811138
85 N>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA196029946
rs1027964774
87 E>K No ClinGen
Ensembl
TCGA novel 89 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs867549458
CA196029947
90 I>M No ClinGen
Ensembl
CA5107074
rs768650366
90 I>V No ClinGen
ExAC
gnomAD
CA5107075
rs781120262
91 K>E No ClinGen
ExAC
gnomAD
CA374012816
rs1210796653
91 K>R No ClinGen
gnomAD
rs532785405
CA5107096
92 D>G No ClinGen
1000Genomes
ExAC
gnomAD
CA5107097
rs781017755
93 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs1473769434
CA374012850
94 T>I No ClinGen
TOPMed
gnomAD
rs1473769434
CA374012849
94 T>S No ClinGen
TOPMed
gnomAD
TCGA novel 95 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA374012859
rs1175789443
96 K>E No ClinGen
gnomAD
rs369617303
CA5107098
97 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1433370143
CA374012870
97 I>T No ClinGen
gnomAD
CA374012885
rs1177818091
COSM487628
99 D>A kidney [Cosmic] No ClinGen
cosmic curated
gnomAD
TCGA novel 99 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5107099
rs769588153
101 T>I No ClinGen
ExAC
gnomAD
rs1169371539
CA374012908
103 P>S No ClinGen
gnomAD
rs1407932954
CA374012927
106 I>T No ClinGen
gnomAD
CA5107101
rs150816044
106 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1587573803
CA374012936
107 G>V No ClinGen
Ensembl
CA5107102
rs374479341
109 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA374012966
rs1220015376
112 C>S No ClinGen
gnomAD
CA5107105
rs41283649
116 L>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5107104
rs41283649
116 L>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1110740
rs144270495
CA5107121
118 T>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5107124
rs775977172
123 H>Y No ClinGen
ExAC
gnomAD
TCGA novel 124 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA196030339
rs1039079430
127 Q>R No ClinGen
gnomAD
CA196030340
COSM197759
rs773291296
131 T>M large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA5107129
rs765264658
133 L>P No ClinGen
ExAC
gnomAD
rs140125010
CA5107130
135 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1440385653
CA374013144
136 H>R No ClinGen
gnomAD
rs267602297
CA196030341
136 H>Y No ClinGen
Ensembl
TCGA novel 138 P>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA374013162
rs1321522157
139 D>H No ClinGen
gnomAD
CA5107132
rs766499285
141 I>M No ClinGen
ExAC
gnomAD
rs1230527682
CA374013203
144 P>L No ClinGen
gnomAD
CA5107134
rs371200239
144 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA196030342
rs759509980
145 A>T No ClinGen
Ensembl
rs149812553
CA374013209
146 M>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5107135
rs149812553
146 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA196030344
rs1021831791
150 A>V No ClinGen
Ensembl
CA374013247
rs1196112294
151 L>P No ClinGen
TOPMed
rs753785955
CA5107136
153 I>V No ClinGen
ExAC
gnomAD
CA374013292
rs1421179110
158 D>H No ClinGen
gnomAD
CA5107139
rs374901096
160 A>S No ClinGen
ESP
ExAC
gnomAD
CA374013306
rs374901096
160 A>T No ClinGen
ESP
ExAC
gnomAD
CA374013394
rs1473714235
172 E>G No ClinGen
gnomAD
rs201748422
CA5107183
178 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA374013472
rs372488081
180 Y>* No ClinGen
ExAC
TOPMed
gnomAD
CA196031904
rs931510949
183 K>Q No ClinGen
TOPMed
CA374013505
rs1253824838
185 A>S No ClinGen
TOPMed
CA196031905
rs1048515551
185 A>V No ClinGen
TOPMed
CA5107185
rs751063091
186 N>S No ClinGen
ExAC
gnomAD
CA196031906
rs906143601
187 S>G No ClinGen
TOPMed
CA196031907
rs200590081
187 S>I No ClinGen
1000Genomes
TOPMed
rs907711874
CA196031908
190 D>H No ClinGen
Ensembl
TCGA novel 190 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 196 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 199 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1564300679
CA374013668
207 R>I No ClinGen
Ensembl
TCGA novel 209 K>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 212 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA374013760
rs1564301637
219 R>G No ClinGen
Ensembl
CA374013770
rs1474521915
220 D>G No ClinGen
gnomAD
CA196032065
rs909755126
222 E>Q No ClinGen
TOPMed
CA374013788
rs1179193080
223 V>I No ClinGen
TOPMed
rs377076239
CA196032134
228 Q>E No ClinGen
ESP
rs1481849782
CA374013848
229 Q>H No ClinGen
gnomAD
TCGA novel 232 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5107226
rs760373850
234 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1249457935
CA374013885
235 S>G No ClinGen
gnomAD
rs201019890
CA5107227
235 S>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 238 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 239 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA374013934
rs1392754201
CA374013933
242 V>L No ClinGen
TOPMed
gnomAD
rs1392754201
CA374013932
242 V>M No ClinGen
TOPMed
gnomAD
CA5107229
rs200371490
245 T>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5107230
rs765683563
248 I>V No ClinGen
ExAC
gnomAD
CA374013978
rs1446369131
249 A>V No ClinGen
gnomAD
rs1372799082
CA374013980
250 F>I No ClinGen
gnomAD
CA374013987
rs1241369564
251 T>P No ClinGen
TOPMed
rs1222360856 255 T>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760165501
CA5107244
258 V>I No ClinGen
ExAC
gnomAD
CA5107245
rs760165501
258 V>L No ClinGen
ExAC
gnomAD
CA5107246
rs776297747
259 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA373929526
rs1215139066
259 A>T No ClinGen
gnomAD
CA5107248
rs368919696
261 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 263 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5107249
rs750796057
264 L>W No ClinGen
ExAC
gnomAD
rs763613794
CA5107250
265 M>V No ClinGen
ExAC
gnomAD
rs751698413
CA5107252
269 A>V No ClinGen
ExAC
gnomAD
CA5107254
rs781294752
270 D>G No ClinGen
ExAC
gnomAD
TCGA novel
CA373929860
rs1587607891
270 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
Ensembl
CA373929906
rs1564302692
271 L>H No ClinGen
Ensembl
TCGA novel 272 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5107255
rs147227765
273 S>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA195491285
rs201778443
274 A>V No ClinGen
TOPMed
gnomAD
CA195491293
rs966706045
275 I>T No ClinGen
Ensembl
CA373929980
rs1380913352
275 I>V No ClinGen
TOPMed
CA373930021
rs1369261710
276 H>R No ClinGen
TOPMed
TCGA novel 279 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5107257
rs201461279
279 L>S No ClinGen
1000Genomes
ExAC
gnomAD
rs978515280
CA195491337
280 H>D No ClinGen
Ensembl
CA373930128
rs1429207032
280 H>P No ClinGen
gnomAD
CA373930137
rs1270165452
280 H>Q No ClinGen
gnomAD
rs1429207032
CA373930129
280 H>R No ClinGen
gnomAD
rs978515280
CA373930125
280 H>Y No ClinGen
Ensembl
TCGA novel 281 H>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745654883
CA5107258
281 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1294728639
CA373930200
283 I>V No ClinGen
gnomAD
CA373930227
rs1235591820
284 Q>R No ClinGen
TOPMed
gnomAD
rs1291836069
CA373930273
285 A>V No ClinGen
gnomAD
rs150925033
CA5107259
286 Q>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 288 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA373930348
rs1205379353
289 T>A No ClinGen
gnomAD
CA195491364
rs939258797
290 T>A No ClinGen
Ensembl
CA373933894
rs1477466983
293 D>V No ClinGen
gnomAD
CA5107303
rs755639844
294 H>D No ClinGen
ExAC
TOPMed
gnomAD
CA373933902
rs1274104523
294 H>Q No ClinGen
gnomAD
rs141991899
CA5107304
296 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5107305
rs748991357
298 M>I No ClinGen
ExAC
gnomAD
rs1280467212
CA373933971
304 V>A No ClinGen
TOPMed
rs1196022308
CA373933986
306 Q>R No ClinGen
gnomAD
rs1348192210
CA373934038
314 P>H No ClinGen
TOPMed
rs973931955
CA195506987
315 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1414798985
CA373934059
318 K>E No ClinGen
TOPMed
CA5107309
rs772643338
319 I>V No ClinGen
ExAC
gnomAD
CA195507044
rs910221060
322 R>G No ClinGen
Ensembl
rs1292395648
CA373934092
322 R>S No ClinGen
TOPMed
gnomAD
rs760774532
CA5107311
326 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1408491461
CA373934136
328 Y>C No ClinGen
TOPMed
rs200918536
CA5107312
334 D>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 334 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA373934190
rs1339583336
336 I>V No ClinGen
gnomAD
CA5107313
rs776668929
338 T>S No ClinGen
ExAC
gnomAD
CA373934213
rs1469828383
339 V>A No ClinGen
TOPMed
rs1409944750
CA373934216
340 C>R No ClinGen
TOPMed
CA373934229
rs1242915293
341 E>D No ClinGen
gnomAD
rs1337179415
CA373934223
341 E>K No ClinGen
gnomAD
rs765375299
CA5107315
342 V>A No ClinGen
ExAC
gnomAD
rs928421958
CA195507076
342 V>I No ClinGen
TOPMed
rs751374102
CA5107316
343 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs751374102
CA373934235
343 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1208687656
CA373934281
349 H>R No ClinGen
TOPMed
CA5107319
rs532139527
352 L>V No ClinGen
1000Genomes
ExAC
gnomAD
rs760758863
CA5107339
356 C>Y No ClinGen
ExAC
gnomAD
CA373934569
rs1374236376
358 F>V No ClinGen
gnomAD
CA195512346
rs977506062
365 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1235625552
CA373934632
366 L>F No ClinGen
gnomAD
CA5107344
rs760888314
368 R>S No ClinGen
ExAC
gnomAD
CA373934682
rs1564319473
370 L>V No ClinGen
Ensembl
rs1434612844
CA373934712
372 Q>P No ClinGen
TOPMed
CA373935858
rs1244504344
374 T>A No ClinGen
gnomAD
CA5107361
rs761778458
375 F>L No ClinGen
ExAC
gnomAD
rs145858134
CA5107360
375 F>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 377 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1169713270
CA373935882
378 D>H No ClinGen
gnomAD
rs1403321234
CA373935901
380 K>R No ClinGen
TOPMed
CA5107364
COSM487629
rs758052966
385 T>A kidney [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA373935937
rs1325553662
385 T>I No ClinGen
gnomAD
CA373935954
rs1362628040
388 M>L No ClinGen
gnomAD
CA5107366
rs751936215
391 M>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 393 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1364512196
CA373935999
394 D>N No ClinGen
gnomAD
rs927859010
CA195514864
394 D>V No ClinGen
TOPMed
rs1217118223
CA373936014
396 L>F No ClinGen
gnomAD
CA5107369
rs748647154
397 R>Q No ClinGen
ExAC
gnomAD
CA5107368
rs368206549
397 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
CA5107370
rs756626893
398 S>A No ClinGen
ExAC
TOPMed
gnomAD
CA5107371
rs777775451
398 S>C No ClinGen
ExAC
gnomAD
rs1243833302
CA373936040
401 S>G No ClinGen
gnomAD
rs1487270946
CA373936048
402 P>S No ClinGen
gnomAD
CA373936058
rs1192617459
403 P>L No ClinGen
gnomAD
CA195514898
rs906608648
407 P>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA5107374
rs774661421
408 K>R No ClinGen
ExAC
gnomAD
rs1486569564
CA373936108
409 C>W No ClinGen
gnomAD
CA373936110
rs1189868314
410 Y>H No ClinGen
gnomAD
CA5107389
rs753094969
411 L>I No ClinGen
ExAC
gnomAD
CA5107390
rs756649494
412 Y>C No ClinGen
ExAC
gnomAD
rs1177807938
CA373936136
414 N>H No ClinGen
gnomAD
rs1200869917
CA373936142
414 N>K No ClinGen
TOPMed
CA5107391
COSM1463414
rs559244542
417 A>V large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA373936209
rs1350969113
420 C>F No ClinGen
gnomAD
rs369185828
CA373936234
422 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369185828
CA5107394
422 D>N Variant assessed as Somatic; 0.0001848 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5107395
rs746141069
423 S>F No ClinGen
ExAC
gnomAD
rs150339845
CA5107396
424 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA195516513
rs912376290
425 V>I No ClinGen
TOPMed
gnomAD
CA373936361
rs773153171
430 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs773153171
CA5107400
430 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs138043991
COSM1463415
CA5107398
430 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1418041090
CA373937769
432 F>L No ClinGen
gnomAD
rs769593258
CA373937810
433 C>W No ClinGen
ExAC
gnomAD
CA373937854
rs1295024064
435 L>V No ClinGen
TOPMed
CA5107421
rs777400340
438 I>N No ClinGen
ExAC
gnomAD
CA373938097
rs1377421765
444 A>T No ClinGen
gnomAD
TCGA novel 444 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5107423
rs770844217
447 R>K No ClinGen
ExAC
gnomAD
rs1375802073
CA373938197
448 D>E No ClinGen
gnomAD
rs773922665
CA195524355
449 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA5107425
rs758983734
451 G>C No ClinGen
ExAC
gnomAD
CA195524363
rs1037012998
453 I>T No ClinGen
Ensembl
TCGA novel 455 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5107426
rs771731209
458 A>T No ClinGen
ExAC
gnomAD
rs866159273
CA195524371
458 A>V No ClinGen
Ensembl
rs200547619
CA195524386
462 D>N No ClinGen
1000Genomes
rs760431639
CA5107447
466 K>R No ClinGen
ExAC
gnomAD
rs774561710
CA195524685
467 V>F No ClinGen
Ensembl
rs768187404
CA5107448
469 A>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 469 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs987736995
CA195524698
470 A>V No ClinGen
gnomAD
CA5107450
rs376370532
474 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs112636800
CA195524704
477 K>T No ClinGen
Ensembl
rs761826871
CA195524712
483 Q>H No ClinGen
TOPMed
gnomAD
rs773815159
CA5107452
483 Q>R No ClinGen
ExAC
gnomAD
rs1228602961
CA373938819
485 L>S No ClinGen
TOPMed
CA373938865
rs1363874532
487 C>F No ClinGen
TOPMed
TCGA novel 490 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA373938960
rs1202483021
492 V>L No ClinGen
gnomAD
CA195524716
COSM3433324
rs1053906232
498 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA5107454
COSM1110745
rs766530749
498 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5107456
rs755296908
499 I>T No ClinGen
ExAC
gnomAD
CA373939123
rs1156849814
499 I>V No ClinGen
gnomAD
CA373939199
rs1456209990
502 Q>R No ClinGen
TOPMed
CA373939384
rs1170750392
511 E>K No ClinGen
TOPMed
CA373939452
rs1240077060
513 Y>C No ClinGen
gnomAD
rs753649635
CA5107458
515 M>I No ClinGen
ExAC
gnomAD
CA373939476
rs1304380499
515 M>L No ClinGen
gnomAD
TCGA novel 519 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 524 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1458815651
CA373940370
527 E>K No ClinGen
gnomAD
rs1458815651
CA373940373
527 E>Q No ClinGen
gnomAD
rs557691690
CA373940427
531 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs557691690
CA5107477
531 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA5107481
rs779797378
539 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA373940522
rs779797378
539 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs761127695
CA5107483
541 D>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 544 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 549 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA373940647
rs1399709820
549 R>S No ClinGen
gnomAD
rs1437801735
CA373940755
558 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA373940762
rs1295860760
559 S>G No ClinGen
gnomAD
CA5107484
rs780818669
560 S>N No ClinGen
ExAC
gnomAD
rs148208830
CA195526056
COSM106864
563 T>K skin [Cosmic] No ClinGen
cosmic curated
gnomAD
TCGA novel 563 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 564 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770577267 567 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs529676661
CA5107488
567 K>R No ClinGen
1000Genomes
ExAC
gnomAD
rs766371180
CA5107501
570 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1241675206
CA373940998
573 S>N No ClinGen
gnomAD
rs1311636717
CA373941007
574 R>G No ClinGen
TOPMed
rs1240962246
CA373941029
576 I>V No ClinGen
TOPMed
rs1329837849
CA373941052
578 M>R No ClinGen
TOPMed
CA195526605
rs969888381
578 M>V No ClinGen
TOPMed
gnomAD
CA373941176
rs1302603829
587 A>G No ClinGen
TOPMed
rs751357555
CA5107521
597 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA373941337
rs1478049544
597 D>V No ClinGen
gnomAD
rs759615890
CA5107522
598 M>I No ClinGen
ExAC
gnomAD
CA5107524
rs113466696
599 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs755639991
CA5107525
600 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1421464565
CA373941386
601 K>N No ClinGen
TOPMed
gnomAD
CA5107527
rs141080071
603 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs756918123
CA5107528
603 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA373941401
rs141080071
603 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 604 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779209602
CA5107529
605 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA195526932
rs771344254
609 L>F No ClinGen
Ensembl
CA5107531
rs201797022
611 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA195526938
rs886282097
613 Q>R No ClinGen
Ensembl
rs1587671959
CA373941554
615 R>Q No ClinGen
Ensembl
CA5107533
rs747121540
624 N>D No ClinGen
ExAC
gnomAD
CA5107534
rs370126583
624 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA373941701
rs1171190839
627 M>I No ClinGen
TOPMed
gnomAD
CA5107535
rs776750225
628 T>P No ClinGen
ExAC
gnomAD
rs776821188
CA5107539
COSM1463420
630 P>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 633 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1291494797
CA373942510
639 E>G No ClinGen
gnomAD
CA5107561
rs776016210
642 D>E No ClinGen
ExAC
gnomAD
rs142358554
CA5107562
646 Y>C No ClinGen
ESP
ExAC
gnomAD
TCGA novel 647 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM487630
CA195527162
rs995902177
648 P>L kidney [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1165455353
CA373942574
648 P>S No ClinGen
gnomAD
CA195527167
rs113767428
650 P>T No ClinGen
Ensembl
rs1471752424
CA373942602
652 S>F No ClinGen
gnomAD
rs150870092
CA5107564
653 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA195527172
rs150870092
653 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA195527179
rs903528634
654 E>Q No ClinGen
Ensembl
CA5107565
rs758023664
654 E>V No ClinGen
ExAC
gnomAD
rs766787456
CA373942614
655 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs1162265822
CA373942653
661 K>E No ClinGen
gnomAD
rs751917730
CA5107567
661 K>R No ClinGen
ExAC
gnomAD
CA373942655
rs751917730
661 K>T No ClinGen
ExAC
gnomAD
rs956389575
CA195527208
672 N>S No ClinGen
gnomAD
rs185346638
CA5107569
676 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5107570
rs752744872
676 P>L No ClinGen
ExAC
gnomAD
rs749574848
CA5107573
678 H>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5107575
rs779996526
678 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs749574848
CA5107574
678 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1202430388
CA373942800
680 V>I No ClinGen
gnomAD
rs201988672
CA195528596
685 K>E No ClinGen
1000Genomes
TCGA novel 694 M>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5107588
rs767944019
694 M>V No ClinGen
ExAC
gnomAD
TCGA novel 700 G>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1379544674
CA373942945
701 H>D No ClinGen
gnomAD
CA373942968
rs1260734622
704 E>K No ClinGen
gnomAD
rs1299485273
CA373942985
706 K>R No ClinGen
TOPMed
CA5107612
rs201363050
707 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA373943002
rs201363050
707 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA5107613
rs764687730
712 D>H No ClinGen
ExAC
gnomAD
TCGA novel 713 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1212254253
CA373943063
716 H>Y No ClinGen
gnomAD
rs1271702483
CA373943073
717 K>T No ClinGen
gnomAD
CA373943100
rs1343407875
721 V>I No ClinGen
TOPMed
rs1039677307
CA195529195
723 K>Q No ClinGen
Ensembl
rs757383749
CA5107615
725 V>A No ClinGen
ExAC
gnomAD

No associated diseases with Q5VZE5

No regional properties for Q5VZE5

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q5VZE5

Functions

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

5 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.
NatC complex A conserved complex that catalyzes the transfer of an acetyl group to the N-terminal residue of a protein acceptor molecule that has a Met-Ile, Met-Leu, Met-Trp, or Met-Phe N-terminus. In Saccharomyces the complex includes Mak3p, Mak10p, and Mak31p.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

4 GO annotations of biological process

Name Definition
N-terminal peptidyl-methionine acetylation The acetylation of the N-terminal methionine of proteins to form the derivative N-acetyl-L-methionine.
N-terminal protein amino acid acetylation The acetylation of the N-terminal amino acid of proteins.
negative regulation of apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
smooth muscle cell proliferation The multiplication or reproduction of smooth muscle cells, resulting in the expansion of a cell population.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q02197 MAK10 N-alpha-acetyltransferase 35, NatC auxiliary subunit Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
Q9W1A2 Naa35 N-alpha-acetyltransferase 35, NatC auxiliary subunit homolog Drosophila melanogaster (Fruit fly) PR
10 20 30 40 50 60
MVMKASVDDD DSGWELSMPE KMEKSNTNWV DITQDFEEAC RELKLGELLH DKLFGLFEAM
70 80 90 100 110 120
SAIEMMDPKM DAGMIGNQVN RKVLNFEQAI KDGTIKIKDL TLPELIGIMD TCFCCLITWL
130 140 150 160 170 180
EGHSLAQTVF TCLYIHNPDF IEDPAMKAFA LGILKICDIA REKVNKAAVF EEEDFQSMTY
190 200 210 220 230 240
GFKMANSVTD LRVTGMLKDV EDDMQRRVKS TRSRQGEERD PEVELEHQQC LAVFSRVKFT
250 260 270 280 290 300
RVLLTVLIAF TKKETSAVAE AQKLMVQAAD LLSAIHNSLH HGIQAQNDTT KGDHPIMMGF
310 320 330 340 350 360
EPLVNQRLLP PTFPRYAKII KREEMVNYFA RLIDRIKTVC EVVNLTNLHC ILDFFCEFSE
370 380 390 400 410 420
QSPCVLSRSL LQTTFLVDNK KVFGTHLMQD MVKDALRSFV SPPVLSPKCY LYNNHQAKDC
430 440 450 460 470 480
IDSFVTHCVR PFCSLIQIHG HNRARQRDKL GHILEEFATL QDEAEKVDAA LHTMLLKQEP
490 500 510 520 530 540
QRQHLACLGT WVLYHNLRIM IQYLLSGFEL ELYSMHEYYY IYWYLSEFLY AWLMSTLSRA
550 560 570 580 590 600
DGSQMAEERI MEEQQKGRSS KKTKKKKKVR PLSREITMSQ AYQNMCAGMF KTMVAFDMDG
610 620 630 640 650 660
KVRKPKFELD SEQVRYEHRF APFNSVMTPP PVHYLQFKEM SDLNKYSPPP QSPELYVAAS
670 680 690 700 710 720
KHFQQAKMIL ENIPNPDHEV NRILKVAKPN FVVMKLLAGG HKKESKVPPE FDFSAHKYFP
VVKLV