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 Q15311

Entry ID Method Resolution Chain Position Source
2KWH NMR - A 393-446 PDB
2KWI NMR - B 393-446 PDB
2MBG NMR - A 184-446 PDB
6ZQT X-ray 151 A C/D 393-446 PDB
6ZRN X-ray 148 A C/D 393-446 PDB
AF-Q15311-F1 Predicted AlphaFoldDB

403 variants for Q15311

Variant ID(s) Position Change Description Diseaes Association Provenance
CA296501974
rs1043762986
7 P>A No ClinGen
TOPMed
CA8888816
rs758096977
10 S>G No ClinGen
ExAC
gnomAD
rs1419724435
CA402026746
11 S>G No ClinGen
TOPMed
gnomAD
rs1476747366
CA402026758
12 P>L No ClinGen
gnomAD
CA296501975
rs200050154
13 S>I No ClinGen
1000Genomes
CA296501976
rs902526740
14 E>K No ClinGen
TOPMed
CA8888820
rs781728639
15 H>Q No ClinGen
ExAC
gnomAD
CA8888821
rs147413500
16 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8888823
rs780034442
16 R>H Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs780034442
CA8888824
16 R>L No ClinGen
ExAC
gnomAD
CA8888822
rs147413500
16 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757096143
CA296501977
17 R>G No ClinGen
Ensembl
CA8888825
rs769017781
19 E>K No ClinGen
ExAC
gnomAD
CA402026815
rs1397873355
21 G>V No ClinGen
gnomAD
CA402026824
rs1218477238
23 G>R No ClinGen
gnomAD
CA402026839
rs1342108463
25 T>N No ClinGen
gnomAD
CA402026845
rs1275937007
26 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA8888828
rs770691521
26 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA8888829
rs776629059
27 T>I No ClinGen
ExAC
gnomAD
rs1568066988
CA402026848
27 T>S No ClinGen
Ensembl
CA8888830
rs759433095
28 P>A No ClinGen
ExAC
rs764783166
CA8888831
34 S>N No ClinGen
ExAC
gnomAD
rs1437621789
CA402026911
36 T>I No ClinGen
TOPMed
CA8888832
rs775003296
37 K>E No ClinGen
ExAC
gnomAD
rs1315759219
CA402026944
41 L>F No ClinGen
TOPMed
CA8888834
rs763740122
43 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA402026955
rs763740122
43 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs371220710
CA8888835
43 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8888836
rs371220710
43 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767833937
CA8888837
44 T>I No ClinGen
ExAC
gnomAD
CA402026967
rs1598866888
45 G>V No ClinGen
Ensembl
rs756625374
CA8888839
46 E>D No ClinGen
ExAC
gnomAD
CA402026968
rs1175748978
46 E>K No ClinGen
gnomAD
rs1159933902
CA402026977
47 P>S No ClinGen
TOPMed
rs1299219768
CA402026984
48 S>* No ClinGen
gnomAD
rs1299219768
CA402026986
48 S>L No ClinGen
gnomAD
CA8888840
rs780128985
49 P>S No ClinGen
ExAC
gnomAD
CA402027015
rs1274828993
53 I>V No ClinGen
gnomAD
rs1424359754
CA402027030
55 H>R No ClinGen
TOPMed
rs902011808
CA296501981
55 H>Y No ClinGen
TOPMed
gnomAD
TCGA novel 56 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA402027046
rs779267531
57 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs779267531
CA8888843
57 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs748451387
CA8888844
58 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA402027063
rs1598866928
60 V>A No ClinGen
Ensembl
CA8888845
rs770730661
60 V>I No ClinGen
ExAC
gnomAD
CA402027061
rs770730661
60 V>L No ClinGen
ExAC
gnomAD
CA402027069
rs1598866930
61 V>A No ClinGen
Ensembl
rs774913295
CA8888849
62 S>F No ClinGen
ExAC
gnomAD
rs201602095
CA8888848
62 S>P No ClinGen
1000Genomes
ExAC
gnomAD
rs762462985
CA8888850
65 E>Q No ClinGen
ExAC
gnomAD
TCGA novel 67 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA296501982
rs866604250
68 H>R No ClinGen
gnomAD
TCGA novel 69 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8888852
rs780587928
73 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs1159408634 73 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 76 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1382621246
CA402027202
79 E>D No ClinGen
gnomAD
rs1276616875
CA402027248
84 G>D No ClinGen
TOPMed
CA402027254
rs1163064366
85 Y>S No ClinGen
gnomAD
CA8888872
rs769713781
87 A>G No ClinGen
ExAC
gnomAD
rs779952908
CA8888873
89 Q>E No ClinGen
ExAC
gnomAD
CA8888874
rs375010086
91 D>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8888875
rs768120613
92 S>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 98 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA402027358
rs1381571725
100 P>S No ClinGen
TOPMed
CA402027365
rs1377282463
101 S>A No ClinGen
TOPMed
gnomAD
rs773896430
CA8888876
101 S>F No ClinGen
ExAC
gnomAD
rs773896430
CA402027366
101 S>Y No ClinGen
ExAC
gnomAD
CA402027382
rs1242280667
103 M>I No ClinGen
gnomAD
CA8888878
rs372081924
106 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773572577
CA8888879
107 K>R No ClinGen
ExAC
gnomAD
rs1256144543
CA402027424
109 I>M No ClinGen
gnomAD
rs1423321580
CA402027427
110 H>Y No ClinGen
TOPMed
TCGA novel 111 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA402027495
rs1252858294
119 K>R No ClinGen
gnomAD
CA402027516
rs1187155046
122 E>Q No ClinGen
gnomAD
TCGA novel 123 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754367555
CA402027587
131 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA8888882
rs754367555
131 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1313625410
CA402027595
132 K>R No ClinGen
TOPMed
gnomAD
CA296502283
rs74838839
136 H>P No ClinGen
ExAC
gnomAD
rs765360108
CA8888885
136 H>Q No ClinGen
ExAC
CA8888884
rs74838839
136 H>R No ClinGen
ExAC
gnomAD
CA402027648
rs1253381444
139 E>G No ClinGen
TOPMed
rs1298277625 139 E>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1393902407
CA402027673
142 K>T No ClinGen
gnomAD
rs752752885
CA8888887
144 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs758579995
CA8888888
147 K>E No ClinGen
ExAC
gnomAD
rs11559053
CA296502284
149 K>E No ClinGen
Ensembl
CA402027739
rs1416462334
151 S>A No ClinGen
gnomAD
rs1276152269
CA402027745
152 K>E No ClinGen
TOPMed
gnomAD
TCGA novel 152 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 153 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8888889
rs139161232
155 T>A No ClinGen
1000Genomes
ExAC
gnomAD
rs1598868095
CA402027888
171 K>R No ClinGen
Ensembl
CA402027895
rs1253119951
172 P>Q No ClinGen
gnomAD
rs1228193650
CA402027894
172 P>S No ClinGen
gnomAD
rs117752793
CA402027898
173 I>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs117752793
CA8888891
173 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA296502285
rs778373139
174 Q>R No ClinGen
Ensembl
CA402027923
rs1486818576
176 P>L No ClinGen
gnomAD
CA8888892
rs149502553
176 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs768599467
CA8888894
178 V>M No ClinGen
ExAC
gnomAD
rs1197226444
CA402027938
179 P>A No ClinGen
TOPMed
gnomAD
CA8888895
rs375158770
179 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs771674965
CA8888897
180 Q>E No ClinGen
ExAC
gnomAD
rs530667248
CA296502286
180 Q>P No ClinGen
1000Genomes
gnomAD
CA402027959
rs1375685239
182 D>G No ClinGen
TOPMed
gnomAD
CA8888898
rs772740129
183 V>F No ClinGen
ExAC
gnomAD
CA402027963
rs772740129
183 V>I No ClinGen
ExAC
gnomAD
rs552330033
CA8888899
186 L>V No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 187 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8888900
rs771403375
187 K>R No ClinGen
ExAC
gnomAD
CA402027996
rs1470689129
188 P>S No ClinGen
TOPMed
gnomAD
CA402028011
rs1438981187
190 F>S No ClinGen
TOPMed
TCGA novel 192 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1382689067
CA402028030
193 P>A No ClinGen
gnomAD
rs1297707280
CA402028044
195 A>D No ClinGen
TOPMed
gnomAD
rs1297707280
CA402028045
195 A>G No ClinGen
TOPMed
gnomAD
CA402028061
rs1435183098
198 V>I No ClinGen
gnomAD
CA8888901
rs368559132
203 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA402028101
rs1329412459
203 M>T No ClinGen
gnomAD
CA8888902
rs760082264
204 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1457460691
CA402028105
204 Y>D No ClinGen
TOPMed
CA8888903
rs765845733
CA402028118
205 D>E No ClinGen
ExAC
gnomAD
rs28552921
CA402028135
208 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8888904
rs28552921
RCV000966253
208 R>Q No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1214857225
CA402028133
208 R>W No ClinGen
gnomAD
CA8888907
rs751698054
212 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1192859734
CA402028169
214 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA8888909
rs114518459
217 I>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1484750520
CA402028196
218 D>H No ClinGen
TOPMed
CA8888910
rs546659926
219 Y>H No ClinGen
1000Genomes
ExAC
gnomAD
rs372077609
CA8888912
220 V>I No ClinGen
ESP
ExAC
gnomAD
CA402028221
rs748188211
221 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1290487914
CA402028224
222 K>E No ClinGen
gnomAD
rs1388504084
CA402028232
223 Y>H No ClinGen
gnomAD
CA402028242
rs1465489508
224 G>V No ClinGen
TOPMed
rs777394300
CA8888915
227 C>Y No ClinGen
ExAC
gnomAD
rs746612146
CA8888916
233 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA8888930
rs753568672
239 K>E No ClinGen
ExAC
rs1374344857
CA401882501
240 V>L No ClinGen
gnomAD
CA401882515
rs1225784950
241 D>G No ClinGen
gnomAD
rs754767040
CA8888931
246 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs758550291
CA401882609
249 R>P No ClinGen
TOPMed
gnomAD
rs758550291
CA295903039
249 R>Q No ClinGen
TOPMed
gnomAD
CA401882606
rs1469364485
249 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA401882620
rs1231901344
250 E>V No ClinGen
gnomAD
CA401882636
rs1178614066
251 E>G No ClinGen
TOPMed
gnomAD
rs777989427
CA8888934
251 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA401882654
rs1415370507
253 T>A No ClinGen
gnomAD
CA401882655
rs1415370507
253 T>S No ClinGen
gnomAD
rs368700058
CA8888935
254 N>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1165562491
CA401882675
254 N>K No ClinGen
gnomAD
CA8888936
rs368845774
258 Y>C No ClinGen
ESP
ExAC
gnomAD
rs1568069104
CA401882729
259 E>K No ClinGen
Ensembl
CA401882750
rs1464077445
260 P>L No ClinGen
gnomAD
CA8888937
rs756912606
261 N>S No ClinGen
ExAC
gnomAD
rs1415788098
CA401882869
270 Y>C No ClinGen
gnomAD
rs770022126
COSM1471110
CA8888940
272 R>* Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs770022126
CA401882889
272 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA401882892
rs1598869758
272 R>Q No ClinGen
Ensembl
rs775970990
CA8888941
275 P>R No ClinGen
ExAC
gnomAD
TCGA novel 276 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs373416081
CA8888942
277 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA401882948
rs1271638332
277 N>T No ClinGen
gnomAD
CA401882992
rs375926697
281 K>E No ClinGen
ESP
TOPMed
gnomAD
rs375926697
CA295903112
281 K>Q No ClinGen
ESP
TOPMed
gnomAD
TCGA novel 282 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8888943
rs769235242
283 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs761890562
CA8888945
284 M>T No ClinGen
ExAC
gnomAD
rs142799309
CA8888944
284 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA401883043
rs1259466417
285 P>L No ClinGen
gnomAD
rs537083100
CA8888946
285 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1358619096
CA401883077
288 E>Q No ClinGen
TOPMed
CA401883146
rs1476856297
293 R>T No ClinGen
TOPMed
gnomAD
rs1420298267
CA401883161
294 T>I No ClinGen
gnomAD
CA401883160
rs1420298267
294 T>S No ClinGen
gnomAD
rs1568069145
CA401883164
295 T>A No ClinGen
Ensembl
CA8888947
RCV000924577
rs528466267
295 T>M No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs558924426
CA8888949
297 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA401883294
COSM180379
rs1430612464
305 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1321348484
CA401883295
305 R>H No ClinGen
TOPMed
gnomAD
rs1321348484
CA8888951
305 R>L No ClinGen
TOPMed
gnomAD
rs1271347527
CA401883317
307 L>F No ClinGen
gnomAD
rs1351473594
CA401883327
308 K>E No ClinGen
TOPMed
gnomAD
rs764106578
CA8888954
308 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA401883401
rs1346731444
313 C>* No ClinGen
gnomAD
CA8888956
rs756822703
315 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA401883439
rs1198988746
316 L>P No ClinGen
TOPMed
rs146856822
CA8888961
322 I>M No ClinGen
ESP
ExAC
gnomAD
CA8888960
rs143680866
322 I>T No ClinGen
ESP
ExAC
gnomAD
CA8888959
rs140099378
322 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA401883541
rs1226820232
325 M>V No ClinGen
TOPMed
CA8888964
rs779376569
326 D>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 326 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA401883558
rs1598869858
326 D>N No ClinGen
Ensembl
CA295903205
rs779376569
326 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA401883598
rs1175810598
329 I>T No ClinGen
gnomAD
rs772121543
CA401883839
342 I>L No ClinGen
ExAC
gnomAD
rs772121543
CA8888966
342 I>V No ClinGen
ExAC
gnomAD
CA8888967
rs577133248
344 I>V No ClinGen
1000Genomes
ExAC
gnomAD
CA401883983
rs1369662473
349 T>A No ClinGen
gnomAD
rs1234544776
CA401883994
349 T>I No ClinGen
gnomAD
rs1305259774
CA401884017
351 Q>E No ClinGen
gnomAD
CA401884350
rs1323936112
352 I>T No ClinGen
TOPMed
gnomAD
rs747127902
CA8888988
354 N>D No ClinGen
ExAC
rs754419518
CA8888989
354 N>S No ClinGen
ExAC
gnomAD
CA295904976
rs755389699
355 R>L No ClinGen
ExAC
gnomAD
CA8888990
rs755389699
355 R>Q No ClinGen
ExAC
gnomAD
rs970821047
CA295904983
357 L>V No ClinGen
TOPMed
TCGA novel 363 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA401884600
rs1393737858
364 V>A No ClinGen
gnomAD
rs982045952
CA295904999
367 L>V No ClinGen
TOPMed
CA401884765
rs1353159348
372 V>L No ClinGen
TOPMed
rs1568069690
CA401884786
373 L>P No ClinGen
Ensembl
rs201125287
CA295905004
376 V>A No ClinGen
1000Genomes
CA401884884
rs1598870600
377 M>I No ClinGen
Ensembl
rs772536201
CA8888996
377 M>T No ClinGen
ExAC
gnomAD
CA401884864
rs1430069798
377 M>V No ClinGen
TOPMed
rs1598870605
CA401884893
378 K>Q No ClinGen
Ensembl
CA8888998
rs765869242
387 T>M No ClinGen
ExAC
TOPMed
gnomAD
COSM288297
rs1598870614
CA401885109
388 M>L large_intestine [Cosmic] No ClinGen
cosmic curated
Ensembl
rs989252022
CA295905039
389 P>A No ClinGen
TOPMed
CA401885158
rs374235427
390 T>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8889000
rs374235427
390 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs747537272
CA401885282
396 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs747537272
CA8889005
COSM1287529
396 A>V autonomic_ganglia [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA401885308
rs1370825389
397 G>A No ClinGen
gnomAD
CA401885297
rs781177570
397 G>C No ClinGen
ExAC
gnomAD
rs781177570
CA8889007
397 G>S No ClinGen
ExAC
gnomAD
CA401885315
rs1168066329
398 I>V No ClinGen
gnomAD
rs770170835
CA8889010
399 K>R No ClinGen
ExAC
gnomAD
TCGA novel 401 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747966913
CA8889012
403 R>S No ClinGen
ExAC
gnomAD
rs200197423
CA295906069
412 L>S No ClinGen
1000Genomes
CA401885858
COSM1710983
rs1368932788
414 R>* skin [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs777454415
CA8889032
414 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1304525167
CA401885880
415 D>A No ClinGen
gnomAD
CA401885923
rs1237348970
417 Q>H No ClinGen
TOPMed
gnomAD
rs770783042
CA8889034
418 G>A No ClinGen
ExAC
gnomAD
TCGA novel 421 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776152794
CA401885991
423 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs759034779
CA401885995
424 S>A No ClinGen
ExAC
gnomAD
rs759034779
CA8889036
424 S>P No ClinGen
ExAC
gnomAD
TCGA novel 432 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775094966
CA8889038
432 V>G No ClinGen
ExAC
gnomAD
CA401886158
rs1351792982
437 T>A No ClinGen
TOPMed
gnomAD
rs1395314774
CA401886223
442 K>R No ClinGen
gnomAD
TCGA novel 450 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA401887721
rs1351728725
453 T>I No ClinGen
gnomAD
CA8889051
rs755284343
454 K>N No ClinGen
ExAC
gnomAD
rs954020920
CA401887753
455 I>M No ClinGen
TOPMed
gnomAD
rs1412072913
CA401887812
459 I>M No ClinGen
gnomAD
CA401887821
rs1291918282
460 A>D No ClinGen
TOPMed
gnomAD
CA401887824
rs1291918282
460 A>V No ClinGen
TOPMed
gnomAD
rs542878133
CA295910022
461 S>C No ClinGen
TOPMed
CA295910014
rs542878133
461 S>G No ClinGen
TOPMed
rs777561304
CA8889053
461 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs1323055131
CA401887901
466 D>A No ClinGen
gnomAD
CA401887899
rs1289940958
466 D>N No ClinGen
gnomAD
CA8889054
rs746797343
469 K>E No ClinGen
ExAC
TOPMed
rs1250417991
CA401887954
470 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs745848757
CA8889057
471 E>G No ClinGen
ExAC
gnomAD
rs780988700
CA401887967
471 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA8889056
rs780988700
471 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8889058
rs769273667
472 M>T No ClinGen
ExAC
gnomAD
CA401888040
rs1182426816
475 N>S No ClinGen
gnomAD
rs775002893
CA8889059
479 I>T No ClinGen
ExAC
gnomAD
rs762551080
CA8889060
484 A>V No ClinGen
ExAC
gnomAD
CA8889061
rs372277773
485 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1311405593
CA401888190
485 Q>R No ClinGen
TOPMed
gnomAD
TCGA novel 486 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781091746
CA8889080
493 Q>K No ClinGen
ExAC
gnomAD
rs1287752693
CA401888625
498 A>T No ClinGen
gnomAD
rs1598873558
CA401888631
499 M>L No ClinGen
Ensembl
rs779470358
CA8889083
502 F>C No ClinGen
ExAC
CA8889084
rs748810192
504 R>C No ClinGen
ExAC
gnomAD
rs768270450
CA8889085
504 R>H No ClinGen
ExAC
gnomAD
rs1482376876
CA401888673
505 R>Q No ClinGen
TOPMed
CA8889086
rs773866824
505 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1023764049
CA295912443
507 I>T No ClinGen
TOPMed
gnomAD
rs995182157
CA295912471
511 K>E No ClinGen
TOPMed
rs867322343
CA401888734
514 I>L No ClinGen
TOPMed
CA295912492
rs867322343
514 I>V No ClinGen
TOPMed
rs1445245154
CA401888751
516 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA8889088
rs772299698
517 L>V No ClinGen
ExAC
gnomAD
CA401888759
rs1248704887
518 R>G No ClinGen
gnomAD
TCGA novel 518 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs149216756
CA8889089
519 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767010644
CA8889091
521 I>M No ClinGen
ExAC
gnomAD
CA8889092
rs777338950
522 A>V No ClinGen
ExAC
gnomAD
rs773655777
CA8889108
527 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA295912760
rs911945497
527 R>H No ClinGen
TOPMed
CA401888958
rs1389441948
529 Q>H No ClinGen
gnomAD
rs1325190793
CA401888983
531 G>S No ClinGen
TOPMed
gnomAD
rs1233704649
CA401888998
532 R>* No ClinGen
TOPMed
CA8889110
rs771493471
532 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1305964767
CA401889112
538 Y>* No ClinGen
TOPMed
CA8889112
rs760138997
539 S>P No ClinGen
ExAC
gnomAD
CA295912784
rs866817365
540 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs763017977
CA8889116
541 E>A No ClinGen
ExAC
gnomAD
rs1384362354
CA401889146
541 E>K No ClinGen
TOPMed
CA401889171
rs1271152384
542 S>N No ClinGen
gnomAD
CA401889182
rs1172355625
543 E>K No ClinGen
TOPMed
TCGA novel 544 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8889118
rs368804758
544 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs760614753
CA295912810
553 Q>H No ClinGen
gnomAD
rs1187939238
CA401889361
554 I>T No ClinGen
gnomAD
rs1474496719
CA401889355
554 I>V No ClinGen
gnomAD
rs766197922
CA8889120
560 Q>R No ClinGen
ExAC
gnomAD
rs753692835
CA8889121
564 E>K Variant assessed as Somatic; 4.634e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1346089334
CA401890224
568 I>V No ClinGen
gnomAD
TCGA novel 571 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA401890258
rs1257059622
572 H>R No ClinGen
gnomAD
rs753695857
CA8889142
573 L>S No ClinGen
ExAC
TOPMed
gnomAD
CA401890282
rs1231252289
575 Q>H No ClinGen
TOPMed
gnomAD
rs144964228
CA8889143
576 A>V No ClinGen
1000Genomes
ExAC
rs752646969
CA8889145
577 I>N No ClinGen
ExAC
gnomAD
rs765210331
CA8889144
577 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs374024426
CA8889146
581 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA401890327
rs1378035062
581 R>H No ClinGen
TOPMed
gnomAD
CA401890318
rs374024426
581 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1156806829
CA401890332
582 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1156806829
CA401890334
582 E>Q No ClinGen
gnomAD
CA8889148
rs751209223
583 A>V No ClinGen
ExAC
gnomAD
CA401890383
rs1322746831
585 I>L No ClinGen
gnomAD
rs367939064
CA401890397
585 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1322746831
CA401890386
585 I>V No ClinGen
gnomAD
CA401890436
rs1386462500
588 R>C No ClinGen
TOPMed
gnomAD
CA8889151
rs746254893
588 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs780605304
CA8889153
589 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8889155
rs768695459
592 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs749833901
CA8889154
592 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1249461065
CA401890512
593 L>P No ClinGen
gnomAD
rs761980244
CA8889157
595 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA401890545
rs772297398
595 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1190325047
CA401890537
595 Q>P No ClinGen
gnomAD
rs1598874351
CA401890560
596 M>R No ClinGen
Ensembl
CA401890577
rs1434688599
597 Q>P No ClinGen
TOPMed
gnomAD
CA401890581
rs1434688599
597 Q>R No ClinGen
TOPMed
gnomAD
CA295914707
rs376577692
598 R>* No ClinGen
ESP
gnomAD
CA8889159
rs773367882
598 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA8889160
rs773367882
598 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA401890600
rs1449653918
599 A>T No ClinGen
gnomAD
rs1457796369
CA401890607
599 A>V No ClinGen
gnomAD
CA401890635
rs1161422048
601 A>T No ClinGen
TOPMed
gnomAD
rs1216693010
CA401890645
601 A>V No ClinGen
TOPMed
CA401890656
rs1233734978
602 E>G No ClinGen
TOPMed
rs369532344
CA8889162
602 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA401890686
rs1370101476
604 Q>* No ClinGen
TOPMed
gnomAD
rs763007442
CA8889163
605 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA8889164
rs372929952
605 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA401890742
rs1230818746
607 E>G No ClinGen
TOPMed
gnomAD
rs1319464221
CA401890756
609 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA8889166
rs756910572
610 E>* No ClinGen
ExAC
gnomAD
CA401890768
rs1265672931
610 E>D No ClinGen
TOPMed
gnomAD
rs767184648
CA8889167
611 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs767184648
CA401890770
611 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA401890769
rs767184648
611 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA401890774
rs1202797075
612 E>K No ClinGen
gnomAD
CA401890785
rs1372189310
613 W>* No ClinGen
TOPMed
COSM1389956
CA8889168
rs750108400
614 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs756469650
CA8889169
614 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA8889170
rs756469650
614 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs755507371
CA8889172
615 G>R No ClinGen
ExAC
gnomAD
rs755507371
CA401890795
615 G>W No ClinGen
ExAC
gnomAD
CA8889173
rs35867116
VAR_049147
617 A>V No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA401890842
rs1598874411
618 V>G No ClinGen
Ensembl
CA8889175
rs772113798
618 V>I Variant assessed as Somatic; 4.822e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8889177
rs137976679
620 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8889178
rs137976679
620 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1348623941
CA401890873
620 P>S No ClinGen
TOPMed
rs141739854
CA295914854
624 G>S No ClinGen
ESP
TOPMed
gnomAD
CA8889182
rs200994399
625 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA401890980
rs1202647055
627 E>K No ClinGen
gnomAD
rs761401980
CA8889183
628 P>A No ClinGen
ExAC
gnomAD
rs1434969596
CA401891004
629 K>* No ClinGen
TOPMed
rs1207128432
CA401891019
630 A>T No ClinGen
gnomAD
rs750067012
CA8889185
631 A>S No ClinGen
ExAC
gnomAD
CA401891047
rs1182553371
632 K>E No ClinGen
gnomAD
TCGA novel 633 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA401891084
rs1447868828
633 E>D No ClinGen
gnomAD
CA401891075
rs1416105372
633 E>K No ClinGen
gnomAD
rs150549954
CA8889186
634 Q>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs994935898
CA295914932
635 P>L No ClinGen
TOPMed
gnomAD
TCGA novel 635 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766722779
CA8889187
636 K>E No ClinGen
ExAC
gnomAD
CA401891138
rs1311537270
637 A>T No ClinGen
gnomAD
CA401891149
rs1359122396
637 A>V No ClinGen
gnomAD
CA401891171
rs1195034782
639 K>T No ClinGen
TOPMed
rs755417867
CA8889189
640 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA8889190
rs368834573
641 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8889192
rs373024496
644 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs530173610
CA8889193
COSM1740444
645 S>L Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771063506
CA8889195
646 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1210792656
CA401891306
647 S>T No ClinGen
gnomAD
rs1239275917
CA401891322
648 R>S No ClinGen
gnomAD
rs749079878
CA8889197
650 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8889198
rs548196845
653 T>A No ClinGen
1000Genomes
ExAC
rs201564046
CA401891356
653 T>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8889199
rs201564046
653 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD

No associated diseases with Q15311

1 regional properties for Q15311

Type Name Position InterPro Accession
domain Rho GTPase-activating protein domain 192 - 380 IPR000198

Functions

Description
EC Number 7.6.2.2 Linked to the hydrolysis of a nucleoside triphosphate
Subcellular Localization
  • Cell membrane ; Peripheral membrane protein
  • Cytoplasm, cytosol
  • Cytoplasm, cytoskeleton, spindle pole
  • Nucleus
  • Mitochondrion
  • Cytosolic protein that transiently associates with the mitotic spindle poles in early prophase, and dissociates from them after completion of mitosis (By similarity)
  • Targeted to the plasma membrane through its interaction with RALB, directed by FGF signaling
  • Docking on the membrane is required to transduce the Ral signal (By similarity)
  • Recruited by RALA to the mitochondrion during mitosis where it regulates mitochondrial fission (PubMed:21822277)
  • Nuclear localization is cell cycle dependent while membrane localization is seen in adherent cells (PubMed:22319010)
  • The region involved in membrane association could form transmembrane domains and expose a part of the protein extracellularly (Probable)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 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.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
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.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
spindle pole Either of the ends of a spindle, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules.

8 GO annotations of molecular function

Name Definition
ABC-type glutathione S-conjugate transporter activity Catalysis of the reaction: ATP + H2O + glutathione S-conjugate(in) -> ADP + phosphate + glutathione S-conjugate(out).
ABC-type xenobiotic transporter activity Catalysis of the reaction: ATP + H2O + xenobiotic(in) = ADP + phosphate + xenobiotic(out).
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATPase-coupled transmembrane transporter activity Primary active transporter of a solute across a membrane, via the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of a substance across a membrane. The transport protein may be transiently phosphorylated (P-type transporters), or not (ABC-type transporters and other families of transporters). Primary active transport occurs up the solute's concentration gradient and is driven by a primary energy source.
GTPase activator activity Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.
small GTPase binding Binding to a small monomeric GTPase.
transmembrane transporter activity Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other.
xenobiotic transmembrane transporter activity Enables the directed movement of a xenobiotic from one side of a membrane to the other. A xenobiotic is a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.

12 GO annotations of biological process

Name Definition
chemotaxis The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis).
doxorubicin transport The directed movement of a doxorubicin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
endocytosis A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.
positive regulation of GTPase activity Any process that activates or increases the activity of a GTPase.
positive regulation of mitochondrial fission Any process that increases the rate, frequency or extent of mitochondrial fission. Mitochondrial fission is the division of a mitochondrion within a cell to form two or more separate mitochondrial compartments.
positive regulation of protein phosphorylation Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein.
regulation of Cdc42 protein signal transduction Any process that modulates the frequency, rate or extent of Cdc42 protein signal transduction.
regulation of GTPase activity Any process that modulates the rate of GTP hydrolysis by a GTPase.
regulation of small GTPase mediated signal transduction Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.
small GTPase mediated signal transduction The series of molecular signals in which a small monomeric GTPase relays a signal.
transmembrane transport The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other.
xenobiotic detoxification by transmembrane export across the plasma membrane A process that reduces or removes the toxicity of a xenobiotic by exporting it outside the cell.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9VDG2 Rlip RalA-binding protein 1 Drosophila melanogaster (Fruit fly) PR
Q62172 Ralbp1 RalA-binding protein 1 Mus musculus (Mouse) PR
10 20 30 40 50 60
MTECFLPPTS SPSEHRRVEH GSGLTRTPSS EEISPTKFPG LYRTGEPSPP HDILHEPPDV
70 80 90 100 110 120
VSDDEKDHGK KKGKFKKKEK RTEGYAAFQE DSSGDEAESP SKMKRSKGIH VFKKPSFSKK
130 140 150 160 170 180
KEKDFKIKEK PKEEKHKEEK HKEEKHKEKK SKDLTAADVV KQWKEKKKKK KPIQEPEVPQ
190 200 210 220 230 240
IDVPNLKPIF GIPLADAVER TMMYDGIRLP AVFRECIDYV EKYGMKCEGI YRVSGIKSKV
250 260 270 280 290 300
DELKAAYDRE ESTNLEDYEP NTVASLLKQY LRDLPENLLT KELMPRFEEA CGRTTETEKV
310 320 330 340 350 360
QEFQRLLKEL PECNYLLISW LIVHMDHVIA KELETKMNIQ NISIVLSPTV QISNRVLYVF
370 380 390 400 410 420
FTHVQELFGN VVLKQVMKPL RWSNMATMPT LPETQAGIKE EIRRQEFLLN CLHRDLQGGI
430 440 450 460 470 480
KDLSKEERLW EVQRILTALK RKLREAKRQE CETKIAQEIA SLSKEDVSKE EMNENEEVIN
490 500 510 520 530 540
ILLAQENEIL TEQEELLAME QFLRRQIASE KEEIERLRAE IAEIQSRQQH GRSETEEYSS
550 560 570 580 590 600
ESESESEDEE ELQIILEDLQ RQNEELEIKN NHLNQAIHEE REAIIELRVQ LRLLQMQRAK
610 620 630 640 650
AEQQAQEDEE PEWRGGAVQP PRDGVLEPKA AKEQPKAGKE PAKPSPSRDR KETSI