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

6 structures for Q7Z6K3

Entry ID Method Resolution Chain Position Source
6J6X X-ray 296 A A 1-339 PDB
6J74 X-ray 321 A A 1-327 PDB
6J7F X-ray 288 A A 1-327 PDB
6J7X X-ray 275 A A 1-327 PDB
6O60 X-ray 250 A A 1-402 PDB
AF-Q7Z6K3-F1 Predicted AlphaFoldDB

262 variants for Q7Z6K3

Variant ID(s) Position Change Description Diseaes Association Provenance
CA373636213
rs749422932
3 E>A No ClinGen
ExAC
gnomAD
CA5075637
rs749422932
3 E>V No ClinGen
ExAC
gnomAD
CA373636207
rs1398642473
4 T>S No ClinGen
TOPMed
CA373636202
rs1354997966
5 S>G No ClinGen
gnomAD
CA194027380
rs866087896
6 E>* No ClinGen
gnomAD
rs868784855
CA194027379
6 E>D No ClinGen
gnomAD
CA373636195
rs866087896
6 E>K No ClinGen
gnomAD
CA373636181
rs1334392093
8 V>M No ClinGen
gnomAD
CA373636171
rs755835716
9 A>E No ClinGen
ExAC
TOPMed
gnomAD
COSM1462781
CA5075635
rs755835716
COSM1462782
9 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1160180644
CA373636170
10 V>M No ClinGen
gnomAD
CA5075633
rs781265092
12 V>A No ClinGen
ExAC
gnomAD
CA373636155
rs781265092
12 V>G No ClinGen
ExAC
gnomAD
rs866761293
CA194027378
13 Q>* No ClinGen
Ensembl
rs866225196
CA194027377
14 R>L No ClinGen
Ensembl
TCGA novel 14 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1188752382
CA373636101
21 N>D No ClinGen
gnomAD
CA373636087
rs1488054084
23 F>L No ClinGen
gnomAD
rs765935335
CA5075630
24 R>S No ClinGen
ExAC
TOPMed
TCGA novel 25 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1219206150
CA373636063
26 N>S No ClinGen
gnomAD
CA373636040
rs1447985741
29 I>R No ClinGen
gnomAD
CA5075609
rs750005566
30 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA5075610
rs200966061
30 D>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 33 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5075608
rs764792126
33 G>V No ClinGen
ExAC
gnomAD
CA373635599
rs1211880571
35 I>M No ClinGen
gnomAD
CA373635596
rs1348156988
36 P>S No ClinGen
gnomAD
CA373635591
rs1274137236
37 C>R No ClinGen
TOPMed
CA373635587
rs1284968239
37 C>Y No ClinGen
gnomAD
rs753502633
CA5075606
38 P>S No ClinGen
ExAC
gnomAD
CA5075607
rs753502633
38 P>T No ClinGen
ExAC
gnomAD
CA194026355
rs1031411314
41 R>G No ClinGen
TOPMed
CA373635564
rs1219832202
41 R>K No ClinGen
TOPMed
CA5075605
rs767821443
43 N>S No ClinGen
ExAC
gnomAD
rs1307664969
CA373635544
44 R>W No ClinGen
TOPMed
gnomAD
CA5075604
rs375276838
45 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5075601
rs762931672
49 L>V No ClinGen
ExAC
gnomAD
rs1588484459
CA373635506
50 V>A No ClinGen
Ensembl
rs377658803
CA5075600
52 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5075598
rs748348019
55 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA5075597
rs777020228
57 E>K No ClinGen
ExAC
gnomAD
rs1588484403
CA373635416
63 F>Y No ClinGen
Ensembl
CA5075596
rs768537275
64 L>F No ClinGen
ExAC
gnomAD
rs1411412423
CA373635394
66 P>L No ClinGen
TOPMed
rs1422721890
CA373635397
66 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA5075594
rs780123925
67 Y>H No ClinGen
ExAC
gnomAD
CA5075593
rs758426304
70 N>S No ClinGen
ExAC
gnomAD
CA5075592
rs745796544
71 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA373635343
rs1489175867
74 L>S No ClinGen
TOPMed
gnomAD
rs756739674
CA5075590
76 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs780037069
CA194026352
78 R>G No ClinGen
gnomAD
CA5075589
rs753449637
80 Q>R No ClinGen
ExAC
gnomAD
rs1387674446
CA373635275
84 R>G No ClinGen
gnomAD
rs771825384
CA5075587
84 R>T No ClinGen
ExAC
gnomAD
TCGA novel 85 D>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA373635270
rs751981081
85 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA5075584
rs766794109
85 D>V No ClinGen
ExAC
gnomAD
COSM1222400
COSM1222399
CA5075585
rs751981081
85 D>Y large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA373635238
rs1431273304
87 L>F No ClinGen
gnomAD
rs751634492
CA5075565
87 L>S No ClinGen
ExAC
gnomAD
CA5075564
rs766820950
88 I>V No ClinGen
ExAC
gnomAD
CA373635219
rs1251135772
90 V>A No ClinGen
gnomAD
CA373635216
rs1417494213
91 T>A No ClinGen
TOPMed
rs758664175
CA5075563
92 C>F No ClinGen
ExAC
TOPMed
gnomAD
rs758664175
CA194025431
92 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1056097657
CA194025430
101 F>L No ClinGen
TOPMed
CA5075561
rs765616078
102 T>A No ClinGen
ExAC
gnomAD
rs1051428293
CA194025429
102 T>I No ClinGen
Ensembl
CA5075559
rs372892120
103 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5075558
rs764266539
104 A>G No ClinGen
ExAC
gnomAD
rs374908460
CA5075555
107 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs779481498
CA5075529
111 L>P No ClinGen
ExAC
gnomAD
rs1484274795
CA373634576
112 I>F No ClinGen
gnomAD
CA5075527
rs754385559
115 G>D No ClinGen
ExAC
gnomAD
rs1259912871
CA373634443
120 I>V No ClinGen
gnomAD
CA373634418
rs1588461544
121 K>R No ClinGen
Ensembl
CA373634407
rs1488198777
122 D>N No ClinGen
gnomAD
TCGA novel 123 L>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1210809696
CA373634356
124 H>R No ClinGen
TOPMed
gnomAD
rs764319527
COSM1222393
CA5075526
COSM1222394
129 A>S large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA373634278
rs764319527
129 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA5075525
rs139747326
130 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5075524
rs752994734
131 T>I No ClinGen
ExAC
gnomAD
CA5075523
rs767585777
133 F>L No ClinGen
ExAC
gnomAD
CA5075522
rs759387441
134 P>S No ClinGen
ExAC
gnomAD
rs773948512
CA5075521
136 S>N No ClinGen
ExAC
gnomAD
rs1320047477
CA373634137
COSM1314889
COSM1314890
137 P>S Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
TCGA novel 138 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773108617
CA5075518
142 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs755220044
CA5075503
144 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs1012272162
CA194024358
144 R>Q No ClinGen
TOPMed
gnomAD
rs766468864
CA194024357
150 L>P No ClinGen
Ensembl
rs199855837
CA194024356
152 Q>E No ClinGen
Ensembl
CA5075500
rs762701250
152 Q>H No ClinGen
ExAC
gnomAD
CA5075501
rs114918767
152 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1214919960
CA373633565
157 P>L No ClinGen
gnomAD
rs761394172
CA5075497
159 F>S No ClinGen
ExAC
gnomAD
rs1215164133
CA373633541
161 T>S No ClinGen
TOPMed
CA373633527
rs1442933167
163 G>E No ClinGen
gnomAD
rs776073842
CA5075496
164 N>S No ClinGen
ExAC
gnomAD
rs1448322257
CA373633499
167 T>K No ClinGen
TOPMed
CA5075494
rs746691112
169 P>S No ClinGen
ExAC
gnomAD
CA373633445
rs1172878576
170 T>I No ClinGen
gnomAD
rs775253849
CA5075493
170 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA373633415
rs1410874153
172 R>G No ClinGen
gnomAD
rs999893482
CA194024355
172 R>K No ClinGen
TOPMed
gnomAD
CA373633407
rs999893482
172 R>T No ClinGen
TOPMed
gnomAD
rs771454601
CA5075492
173 A>S No ClinGen
ExAC
gnomAD
rs1414231185
CA373633363
174 Q>H No ClinGen
TOPMed
CA5075491
rs201222705
174 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1399373232
CA373633358
175 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA5075490
rs778437482
175 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA373633333
rs1177435124
176 L>R No ClinGen
gnomAD
CA373633328
rs1318749440
177 I>V No ClinGen
TOPMed
rs750174858
CA194024354
181 M>V No ClinGen
gnomAD
CA194024353
rs892287947
183 V>G No ClinGen
Ensembl
TCGA novel 185 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5075488
rs374712160
185 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1236254242
CA373633114
187 A>G No ClinGen
gnomAD
CA5075487
rs781185503
189 G>E No ClinGen
ExAC
gnomAD
CA194024352
rs1032245835
190 R>K No ClinGen
Ensembl
CA373633051
rs1223277732
191 Y>C No ClinGen
gnomAD
rs751815682
CA5075485
192 P>R No ClinGen
ExAC
gnomAD
CA5075484
rs766544044
193 S>N No ClinGen
ExAC
gnomAD
TCGA novel 194 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA194024351
rs1000736795
195 Y>C No ClinGen
Ensembl
CA373632898
rs1358825547
198 W>L No ClinGen
gnomAD
CA5075482
rs750155479
201 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1253033908
CA373632840
201 R>P No ClinGen
gnomAD
rs1234795400
CA373632795
203 W>* No ClinGen
TOPMed
CA373632718
rs1158636594
209 A>T No ClinGen
gnomAD
CA5075480
rs370720259
209 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1588458469
CA373632676
212 D>Y No ClinGen
Ensembl
rs763553924
CA5075478
213 V>I No ClinGen
ExAC
gnomAD
rs1380920163
CA373634749
215 I>F No ClinGen
TOPMed
gnomAD
rs1052318040
CA194023401
217 L>R No ClinGen
TOPMed
gnomAD
rs1336154739
CA373634729
218 D>G No ClinGen
gnomAD
CA5075454
rs759319278
222 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs774121222
CA5075453
223 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA373634697
rs1190720168
223 T>I No ClinGen
gnomAD
rs1430136639
CA373634696
224 K>E No ClinGen
gnomAD
rs770092494
CA5075452
225 H>R No ClinGen
ExAC
rs1262330743
CA373634686
225 H>Y No ClinGen
gnomAD
TCGA novel 226 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs373951055
CA5075450
228 S>P No ClinGen
ESP
ExAC
TOPMed
CA5075449
rs747512469
229 M>L No ClinGen
ExAC
TOPMed
gnomAD
COSM1155148
CA5075448
rs747512469
COSM1109739
229 M>V endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs539470866
CA5075447
230 H>D No ClinGen
1000Genomes
ExAC
gnomAD
CA373634631
rs1251012808
231 V>I No ClinGen
gnomAD
TCGA novel 235 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1309697105
CA373634577
236 G>E No ClinGen
gnomAD
CA5075446
rs772119295
236 G>R No ClinGen
ExAC
gnomAD
CA5075444
rs370998856
240 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA373634532
rs370998856
240 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 240 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1369457011
CA373634529
240 R>L No ClinGen
gnomAD
rs1441056370
CA373634492
243 L>F No ClinGen
gnomAD
rs375747412
CA194023397
245 K>E No ClinGen
ESP
rs201080739
CA194023396
246 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs201080739
CA5075442
246 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA373634453
rs1458512497
247 L>F No ClinGen
gnomAD
rs777576782
CA5075441
248 I>F No ClinGen
ExAC
TOPMed
gnomAD
CA5075440
rs756185228
248 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs1463330259
CA373634445
248 I>T No ClinGen
gnomAD
CA373634422
rs1172797757
250 Q>R No ClinGen
gnomAD
CA373634414
rs1452449013
251 T>A No ClinGen
TOPMed
gnomAD
rs1254852539
CA373634410
251 T>S No ClinGen
gnomAD
rs947522177
CA194023395
252 V>M No ClinGen
TOPMed
gnomAD
CA373634397
rs1564128174
253 I>L No ClinGen
Ensembl
CA194023394
rs7024916
255 S>R No ClinGen
TOPMed
gnomAD
TCGA novel 255 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1194228527
CA373634342
258 M>V No ClinGen
gnomAD
rs752666910
CA5075439
259 E>G No ClinGen
ExAC
gnomAD
CA5075438
rs767182277
263 L>W No ClinGen
ExAC
gnomAD
CA373634241
rs1336765312
266 E>D No ClinGen
TOPMed
CA373634235
rs1234058438
267 P>R No ClinGen
gnomAD
rs189917529
CA5075437
271 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA373634198
rs1346303234
271 P>S No ClinGen
gnomAD
CA5075436
rs751198592
273 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs766004332
CA5075435
274 D>V No ClinGen
ExAC
gnomAD
CA373634145
rs1326288227
276 E>A No ClinGen
TOPMed
gnomAD
rs1054169209
CA194023392
276 E>D No ClinGen
TOPMed
rs372609507
CA5075434
277 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs777124790
CA5075433
278 A>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 283 E>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1396791862
CA373634037
286 I>M No ClinGen
TOPMed
gnomAD
rs768892342
CA5075432
286 I>V No ClinGen
ExAC
gnomAD
rs368902065
CA5075431
289 P>A No ClinGen
ESP
ExAC
gnomAD
CA373633999
rs1260191060
290 H>R No ClinGen
TOPMed
rs1469563802
CA373633993
291 L>F No ClinGen
gnomAD
CA5075430
rs145947133
294 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1588446360
CA373633955
297 E>K No ClinGen
Ensembl
CA5075428
rs199760631
299 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs927579644
CA194023389
300 T>A No ClinGen
Ensembl
CA194023388
rs866422575
301 D>N No ClinGen
TOPMed
rs779017088
CA5075426
302 L>F No ClinGen
ExAC
gnomAD
TCGA novel 303 I>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 304 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA194023387
rs942890623
304 D>V No ClinGen
TOPMed
gnomAD
rs1212143245
CA373633896
305 S>C No ClinGen
gnomAD
rs1564128025
CA373633875
309 H>N No ClinGen
Ensembl
CA373633837
rs1350608718
314 C>R No ClinGen
TOPMed
gnomAD
CA5075405
rs770899905
317 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs201402192
COSM2778979
CA5075406
317 R>W large_intestine Variant assessed as Somatic; 5.273e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5075404
rs749571735
318 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA373633406
rs1246586260
325 H>Y No ClinGen
TOPMed
CA373633396
rs1363772086
326 L>V No ClinGen
gnomAD
rs769740609
CA5075402
327 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1388913173
CA373633087
328 A>G No ClinGen
gnomAD
rs943842876
CA194022855
328 A>T No ClinGen
TOPMed
CA373633079
rs1455004537
329 G>D No ClinGen
TOPMed
rs1438750520
CA373633071
330 S>F No ClinGen
gnomAD
rs762899001
CA5075387
330 S>P No ClinGen
ExAC
gnomAD
CA5075384
rs368529571
331 Q>R No ClinGen
ESP
ExAC
rs926740762
CA194022845
335 A>T No ClinGen
TOPMed
CA5075383
rs200312685
336 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA373633005
rs1564124491
337 E>V No ClinGen
Ensembl
rs1450233735
CA373632997
338 V>I No ClinGen
gnomAD
rs776629685
CA5075382
339 D>E No ClinGen
ExAC
gnomAD
rs1453363127
CA373632986
339 D>N No ClinGen
TOPMed
CA194022843
rs572042956
345 S>G No ClinGen
Ensembl
rs970869652
CA194022842
345 S>T No ClinGen
TOPMed
TCGA novel 348 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5075380
rs768553717
351 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA5075379
rs747009679
352 E>G No ClinGen
ExAC
gnomAD
rs779817550
CA5075378
353 T>N No ClinGen
ExAC
rs955137099
CA194022841
354 K>E No ClinGen
TOPMed
gnomAD
rs745311824
CA5075376
355 R>C No ClinGen
ExAC
gnomAD
CA373632819
rs1246931231
355 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA194022840
rs999400056
358 R>Q No ClinGen
gnomAD
CA5075375
rs567590269
358 R>W No ClinGen
1000Genomes
ExAC
gnomAD
CA5075374
rs376519073
359 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs958005994
CA194022838
360 P>S No ClinGen
TOPMed
gnomAD
CA373632671
rs1294183236
369 M>V No ClinGen
gnomAD
CA373632625
rs1206135948
372 R>K No ClinGen
TOPMed
rs752136183
CA5075370
372 R>S No ClinGen
ExAC
gnomAD
TCGA novel 373 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1352953361
CA373632609
374 I>V No ClinGen
TOPMed
gnomAD
CA373632590
rs1331332218
376 Q>K No ClinGen
gnomAD
CA373632550
rs1430748957
379 S>Y No ClinGen
gnomAD
rs766744781
CA5075369
380 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA5075368
rs763102615
381 C>F No ClinGen
ExAC
gnomAD
CA194022837
rs746920322
382 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA5075367
rs746920322
382 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1455963838
CA373632527
382 R>W No ClinGen
TOPMed
gnomAD
rs762177997
CA5075365
384 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA373632501
rs1234214025
385 E>K No ClinGen
gnomAD
CA194022836
rs996683259
388 R>M No ClinGen
TOPMed
rs1485187701
CA373632440
391 S>N No ClinGen
gnomAD
rs1295397358
CA373632434
391 S>R No ClinGen
TOPMed
gnomAD
rs760338614
CA5075362
395 K>E No ClinGen
ExAC
gnomAD
rs1040919144
CA194022835
395 K>I No ClinGen
TOPMed
gnomAD
CA373632357
rs1588440129
398 V>G No ClinGen
Ensembl
rs1229951829
CA373632346
399 T>I No ClinGen
TOPMed
gnomAD
rs1223257718
CA373632343
400 L>M No ClinGen
gnomAD
rs1223257718
CA373632344
400 L>V No ClinGen
gnomAD
rs202195968
CA5075360
401 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA194022834
rs1047228868
402 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs200503740
CA5075358
403 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs770404404
CA373632311
403 Q>S No ClinGen
ExAC
TOPMed
gnomAD
CA373632306
rs1311429500
403 Q>W No ClinGen
gnomAD

No associated diseases with Q7Z6K3

4 regional properties for Q7Z6K3

Type Name Position InterPro Accession
repeat Protein prenyltransferase, alpha subunit 118 - 152 IPR002088-1
repeat Protein prenyltransferase, alpha subunit 176 - 210 IPR002088-2
repeat Protein prenyltransferase, alpha subunit 217 - 246 IPR002088-3
repeat Protein prenyltransferase, alpha subunit 291 - 325 IPR002088-4

Functions

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

1 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

1 GO annotations of molecular function

Name Definition
protein prenyltransferase activity Catalysis of the covalent addition of an isoprenoid group such as a farnesyl or geranylgeranyl group via thioether linkages to a cysteine residue in a protein.

1 GO annotations of biological process

Name Definition
protein prenylation The covalent attachment of a prenyl group to a protein; geranyl, farnesyl, or geranylgeranyl groups may be added.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
A3KPW7 ptar1 Protein prenyltransferase alpha subunit repeat-containing protein 1 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MAETSEEVAV LVQRVVKDIT NAFRRNPHID EIGLIPCPEA RYNRSPIVLV ENKLGVESWC
70 80 90 100 110 120
VKFLLPYVHN KLLLYRTRKQ WLNRDELIDV TCTLLLLNPD FTTAWNVRKE LILSGTLNPI
130 140 150 160 170 180
KDLHLGKLAL TKFPKSPETW IHRRWVLQQL IQETSLPSFV TKGNLGTIPT ERAQRLIQEE
190 200 210 220 230 240
MEVCGEAAGR YPSNYNAWSH RIWVLQHLAK LDVKILLDEL SSTKHWASMH VSDHSGFHYR
250 260 270 280 290 300
QFLLKSLISQ TVIDSSVMEQ NPLRSEPALV PPKDEEAAVS TEEPRINLPH LLEEEVEFST
310 320 330 340 350 360
DLIDSYPGHE TLWCHRRHIF YLQHHLNAGS QLSQAMEVDG LNDSSKQGYS QETKRLKRTP
370 380 390 400
VPDSLGLEME HRFIDQVLST CRNVEQARFA SAYRKWLVTL SQ