Descriptions

Rho GTPases are key regulators of the actin-based cytoskeleton and Rab GTPases are key regulators of membrane traffic. RhoBTB3, an atypical Rho GTPase family member, binds directly to Rab9 GTPase and together with Rab9 functions in protein transport from endosomes to the trans-Golgi network.
Full-length RhoBTB3 protein displays 50% the rate of ATP hydrolysis seen for the Rho domain (GTPase domain, 1-220) alone, representing autoinhibition in RhoBTB3. Rab9 binding to the C-terminal BTB domain (residues 420-611) of RhoBTB3 opens the autoinhibited RhoBTB3 protein to permit maximal ATP hydrolysis.

Autoinhibitory domains (AIDs)

Target domain

1-220 (GTPase domain)

Relief mechanism

Partner binding

Assay

Mutagenesis experiment, Deletion assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for O94955

Entry ID Method Resolution Chain Position Source
AF-O94955-F1 Predicted AlphaFoldDB

377 variants for O94955

Variant ID(s) Position Change Description Diseaes Association Provenance
rs149956516
CA3348819
4 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3348821
rs781495649
5 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA122891694
rs1019106897
6 V>L No ClinGen
TOPMed
rs746046822
CA3348822
7 A>V No ClinGen
ExAC
gnomAD
rs749659452
CA360458812
10 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA360458874
rs1473617751
12 G>V No ClinGen
gnomAD
rs761435177
CA360459011
16 H>Q No ClinGen
ExAC
gnomAD
rs771439160
CA3348829
17 Q>E No ClinGen
ExAC
gnomAD
rs902070849
CA122891721
17 Q>R No ClinGen
TOPMed
gnomAD
CA360459056
rs1327025969
18 D>N No ClinGen
TOPMed
gnomAD
rs772952921
CA3348830
19 N>D No ClinGen
ExAC
gnomAD
rs17855649
VAR_030490
CA3348831
20 R>Q No ClinGen
UniProt
ExAC
dbSNP
gnomAD
VAR_018481
rs2302980
CA3348832
21 P>R No ClinGen
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA3348835
rs765265379
27 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs748228613
CA3348836
28 Y>* No ClinGen
ExAC
rs971690730
CA122891755
28 Y>* No ClinGen
TOPMed
rs922934590
CA122891760
32 S>N No ClinGen
Ensembl
rs1270376379
CA360459426
32 S>R No ClinGen
gnomAD
CA360459517
rs1187949372
36 S>F No ClinGen
gnomAD
rs370855401
CA3348838
37 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA360459536
rs1458318580
38 D>N No ClinGen
TOPMed
COSM1311404
CA3348841
rs374008783
39 E>D urinary_tract [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA360459562
rs1202447258
39 E>G No ClinGen
TOPMed
rs781066409
CA3348840
39 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA3348839
rs781066409
39 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs780420448
CA3348842
41 S>G No ClinGen
ExAC
gnomAD
rs749710875
CA3348843
41 S>N No ClinGen
ExAC
gnomAD
CA360459693
rs768880509
45 N>H No ClinGen
ExAC
TOPMed
gnomAD
rs768880509
CA3348844
45 N>Y No ClinGen
ExAC
TOPMed
gnomAD
CA360459725
rs1327511662
46 A>V No ClinGen
Ensembl
rs771619736
CA3348847
47 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA360459742
rs1279315590
47 A>T No ClinGen
gnomAD
CA122891807
rs61749615
49 T>M No ClinGen
gnomAD
CA360459812
rs61749615
49 T>R No ClinGen
gnomAD
rs1346658651
CA360459828
50 V>I No ClinGen
gnomAD
CA3348849
rs760167265
51 A>V No ClinGen
ExAC
gnomAD
CA360459919
rs1277651501
54 V>A No ClinGen
gnomAD
rs1378568871
CA360459994
58 Y>C No ClinGen
TOPMed
CA360460016
rs1263755040
59 Q>R No ClinGen
gnomAD
CA360460059
rs1477474480
61 S>I No ClinGen
TOPMed
gnomAD
rs1477474480
CA360460064
61 S>N No ClinGen
TOPMed
gnomAD
CA3348851
rs776241054
61 S>R No ClinGen
ExAC
gnomAD
CA360460048
rs1295973784
61 S>R No ClinGen
TOPMed
CA360460085
rs1354519015
62 A>V No ClinGen
TOPMed
rs1478470398
CA360460130
64 G>V No ClinGen
gnomAD
rs764900657
CA3348853
66 V>G No ClinGen
ExAC
gnomAD
rs762739313
CA3348855
72 D>Y No ClinGen
ExAC
CA360460323
rs1299213441
73 C>Y No ClinGen
gnomAD
CA360460344
rs764077790
74 P>A No ClinGen
ExAC
gnomAD
rs764077790
CA3348856
74 P>S No ClinGen
ExAC
gnomAD
rs1332390389
CA360460367
75 V>A No ClinGen
gnomAD
rs1292804902
CA360460353
75 V>I No ClinGen
gnomAD
CA360462674
rs1291298104
78 I>M No ClinGen
gnomAD
CA360462670
rs1413946864
78 I>T No ClinGen
gnomAD
rs752912885
CA3348901
79 F>L No ClinGen
ExAC
gnomAD
rs1219288562
CA360462687
79 F>S No ClinGen
gnomAD
rs758717486
CA3348902
81 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA3348904
rs752073677
86 S>F No ClinGen
ExAC
gnomAD
CA122894813
rs144248494
87 R>* No ClinGen
ESP
TOPMed
gnomAD
rs144248494
CA360462822
87 R>G No ClinGen
ESP
TOPMed
gnomAD
rs757819060
CA3348905
87 R>P No ClinGen
ExAC
gnomAD
rs749939214
CA3348907
90 I>T No ClinGen
ExAC
gnomAD
rs1186561236
CA360462943
91 G>A No ClinGen
gnomAD
rs755630454
CA3348908
92 G>D No ClinGen
ExAC
gnomAD
rs779596557
CA3348909
93 A>T No ClinGen
ExAC
gnomAD
rs748932209
CA3348910
95 I>F No ClinGen
ExAC
TOPMed
gnomAD
CA360462998
rs1433816759
96 I>V No ClinGen
gnomAD
rs768576337
CA3348911
97 V>M No ClinGen
ExAC
gnomAD
rs1288353904
CA360463034
98 I>M No ClinGen
gnomAD
rs1049450616
CA122894864
99 K>T No ClinGen
Ensembl
rs1360042927
CA360463063
100 Y>C No ClinGen
gnomAD
CA3348914
rs139206452
102 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs773173572
CA3348915
103 N>D No ClinGen
ExAC
gnomAD
CA3348916
rs759555357
103 N>S No ClinGen
ExAC
gnomAD
CA360463111
rs1182829765
104 D>Y No ClinGen
TOPMed
CA3348918
rs775574971
112 K>T No ClinGen
ExAC
gnomAD
rs764286650
CA3348920
115 Y>C No ClinGen
ExAC
gnomAD
CA3348921
rs751985334
117 P>T No ClinGen
ExAC
gnomAD
rs762133850
CA3348922
118 V>A No ClinGen
ExAC
gnomAD
CA3348924
rs144735826
119 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA360463242
rs1395270314
121 R>T No ClinGen
gnomAD
rs755611194
CA3348925
122 A>T No ClinGen
ExAC
gnomAD
rs1024674800
CA122894955
124 N>S No ClinGen
TOPMed
gnomAD
CA3348927
rs753450088
125 S>A No ClinGen
ExAC
gnomAD
CA360463280
rs1294225556
127 P>L No ClinGen
gnomAD
CA360463296
rs1439043156
130 I>V No ClinGen
gnomAD
rs778707106
CA3348929
131 A>V No ClinGen
ExAC
gnomAD
rs1580395631
CA360463315
133 V>F No ClinGen
Ensembl
rs1580395634
CA360463323
134 G>V No ClinGen
Ensembl
CA3348931
rs771941215
137 Q>K No ClinGen
ExAC
gnomAD
rs777599710
CA3348932
137 Q>R No ClinGen
ExAC
gnomAD
rs1438076063
CA360464999
140 E>* No ClinGen
gnomAD
rs1216435580
CA360465013
142 P>A No ClinGen
TOPMed
rs200242583
CA3348946
144 T>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA360465048
rs1188653364
147 L>P No ClinGen
gnomAD
rs777561402
CA3348951
148 C>* No ClinGen
ExAC
TOPMed
gnomAD
rs746766713
CA3348952
149 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA122905353
rs920247446
151 D>E No ClinGen
TOPMed
gnomAD
CA360465068
rs1409661141
151 D>N No ClinGen
gnomAD
CA122905350
rs974342889
151 D>V No ClinGen
TOPMed
gnomAD
CA3348954
rs147895436
153 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3348955
rs141752089
154 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3348957
rs199742018
157 S>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3348956
rs199742018
157 S>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3348958
rs748303313
158 T>P No ClinGen
ExAC
gnomAD
rs768484335
CA3348959
159 T>A No ClinGen
ExAC
gnomAD
rs768484335
CA122905378
159 T>P No ClinGen
ExAC
gnomAD
rs1339630614
CA360465120
159 T>S No ClinGen
gnomAD
CA3348961
rs372105539
160 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766951981
CA3348962
162 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs777259122
CA3348963
164 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA122905409
rs1052208738
165 A>G No ClinGen
Ensembl
rs1484674144
CA360465183
169 G>E No ClinGen
gnomAD
rs375717037
CA3348964
170 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3348968
rs369025051
176 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA360465227
rs1427548527
176 H>Y No ClinGen
TOPMed
gnomAD
rs1316937624
CA360465235
177 S>N No ClinGen
TOPMed
CA3348970
rs771158755
178 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs781210737
CA3348971
179 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA122905456
rs1013676244
181 F>L No ClinGen
gnomAD
CA3348972
rs745767162
182 Y>C No ClinGen
ExAC
gnomAD
rs1561443851
CA360465275
183 I>V No ClinGen
Ensembl
rs1226062612
CA360465308
187 F>L No ClinGen
TOPMed
gnomAD
CA122905477
rs1044948036
187 F>S No ClinGen
TOPMed
rs1416259036
CA360465310
188 G>R No ClinGen
gnomAD
CA3348974
rs539990691
190 V>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA360465325
rs539990691
190 V>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3348996
rs747130667
195 M>T No ClinGen
ExAC
gnomAD
CA3348997
rs771337735
198 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA360465959
rs1265344652
200 N>Y No ClinGen
TOPMed
CA360466024
rs1195648752
204 S>G No ClinGen
TOPMed
CA360466075
rs1363696380
207 M>L No ClinGen
gnomAD
rs1469049580
CA360466110
208 K>R No ClinGen
TOPMed
CA360466234
rs1452317609
213 S>G No ClinGen
gnomAD
CA3349000
rs746227477
214 N>D No ClinGen
ExAC
gnomAD
CA122909151
rs113282719
214 N>S No ClinGen
Ensembl
rs1368357894
CA360466326
217 H>R No ClinGen
gnomAD
rs770463319
CA3349001
218 G>A No ClinGen
ExAC
gnomAD
CA360466381
rs1561445301
221 P>L No ClinGen
Ensembl
CA3349002
rs776118895
223 Q>E No ClinGen
ExAC
gnomAD
CA360466429
rs1275123427
225 E>K No ClinGen
TOPMed
gnomAD
rs1261757878
CA360466453
226 Q>R No ClinGen
TOPMed
CA3349023
rs757617291
231 P>L No ClinGen
ExAC
gnomAD
rs1297611958
CA360467274
232 V>D No ClinGen
TOPMed
CA122912163
rs956462421
232 V>I No ClinGen
gnomAD
CA122912187
rs527633862
234 K>N No ClinGen
TOPMed
gnomAD
CA3349025
rs763502813
237 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs923965257
CA122912192
237 A>T No ClinGen
TOPMed
gnomAD
CA3349024
rs763502813
237 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA360467403
rs1485651916
240 Y>C No ClinGen
gnomAD
CA360467397
rs1376249596
240 Y>D No ClinGen
TOPMed
rs1356627670
CA360467439
242 S>A No ClinGen
Ensembl
rs1561446480
CA360467534
250 C>R No ClinGen
Ensembl
rs1429927308
CA360467544
251 C>R No ClinGen
gnomAD
CA3349028
rs553064220
253 C>F No ClinGen
1000Genomes
ExAC
gnomAD
rs768225814
CA3349029
254 V>M No ClinGen
ExAC
gnomAD
rs1423586223
CA360467640
256 V>M No ClinGen
TOPMed
CA3349033
rs150266098
257 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3349032
rs150266098
257 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA360467701
rs1414153492
259 Y>H No ClinGen
gnomAD
rs926554219
CA360467735
260 N>K No ClinGen
gnomAD
rs776641165
CA3349037
261 P>S No ClinGen
ExAC
gnomAD
rs776641165
CA3349036
261 P>T No ClinGen
ExAC
gnomAD
CA3349038
rs34899
VAR_018482
262 N>D No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA360467755
rs34899
262 N>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs34899
CA360467759
262 N>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1235181660
CA360467810
264 K>R No ClinGen
TOPMed
rs1281549204
CA360467853
266 V>A No ClinGen
TOPMed
gnomAD
rs767873417
CA3349041
267 V>A No ClinGen
ExAC
gnomAD
CA3349040
rs757389717
267 V>I No ClinGen
ExAC
gnomAD
CA360467911
rs1244342522
269 A>V No ClinGen
gnomAD
rs1486529098
CA360467931
270 H>L No ClinGen
TOPMed
gnomAD
rs1486529098
CA360467928
270 H>R No ClinGen
TOPMed
gnomAD
rs779429428
CA122912366
272 I>F No ClinGen
Ensembl
CA360467986
rs141051942
272 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780226430
CA3349044
273 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1561446552
CA360468030
275 C>G No ClinGen
Ensembl
CA122912376
rs908400182
275 C>S No ClinGen
Ensembl
rs186733002
CA3349047
276 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs186733002
CA3349046
276 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs780948576
CA122912400
276 A>V No ClinGen
Ensembl
CA360468119
rs1433872750
279 H>L No ClinGen
gnomAD
rs1304919870
CA360468144
280 V>G No ClinGen
TOPMed
rs1171615653
CA360468166
282 M>L No ClinGen
TOPMed
gnomAD
CA360468182
rs1423467920
283 L>M No ClinGen
TOPMed
CA122912419
rs948253213
283 L>Q No ClinGen
TOPMed
rs1479127180
CA360468207
284 L>I No ClinGen
TOPMed
rs1425113751
CA360468237
286 N>D No ClinGen
TOPMed
rs1045697097
CA122912428
287 V>A No ClinGen
TOPMed
rs138557068
CA3349048
289 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1041168004
CA122912442
290 P>S No ClinGen
Ensembl
CA3349049
rs146973484
293 I>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA122912472
rs146973484
293 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs772887011
CA3349050
298 I>V No ClinGen
ExAC
gnomAD
CA360468439
rs1443460057
299 I>V No ClinGen
gnomAD
CA3349051
rs746600859
300 R>* No ClinGen
ExAC
gnomAD
CA3349053
rs776352969
307 A>V No ClinGen
ExAC
gnomAD
rs1318083661
CA360468511
308 I>V No ClinGen
gnomAD
rs1215844453
CA360468523
309 N>K No ClinGen
gnomAD
CA3349055
rs759342338
311 D>A No ClinGen
ExAC
gnomAD
CA3349054
rs759342338
311 D>G No ClinGen
ExAC
gnomAD
rs775447703
CA3349056
312 T>A No ClinGen
ExAC
gnomAD
CA3349057
rs183162694
312 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs183162694
CA3349058
312 T>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA360468552
rs1257256634
314 F>Y No ClinGen
TOPMed
rs559872744
CA122912558
315 P>Q No ClinGen
1000Genomes
CA3349059
rs750687863
318 S>R No ClinGen
ExAC
gnomAD
CA3349060
rs756462984
320 E>D No ClinGen
ExAC
gnomAD
rs528922224
CA3349061
COSM168631
321 S>Y large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
rs754196974
CA3349062
322 S>A No ClinGen
ExAC
gnomAD
rs1031812301
CA122912603
322 S>L No ClinGen
Ensembl
CA122912573
rs754196974
322 S>P No ClinGen
ExAC
gnomAD
CA360468617
rs1386637024
325 P>A No ClinGen
TOPMed
gnomAD
CA3349064
rs375504922
326 P>L No ClinGen
ESP
ExAC
TOPMed
CA3349065
rs755935034
328 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA3349066
rs755935034
328 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA3349067
rs777319373
328 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs777319373
CA360468634
328 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA3349068
rs777319373
328 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA360468642
rs1394057050
330 I>V No ClinGen
TOPMed
gnomAD
rs770527619
CA3349069
331 V>A No ClinGen
ExAC
gnomAD
rs780872797
CA3349070
333 D>N No ClinGen
ExAC
gnomAD
CA3349072
rs769589148
334 A>S No ClinGen
ExAC
TOPMed
CA360468668
COSM1071389
rs769589148
334 A>T endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
CA360468724
rs1243064667
342 D>A No ClinGen
Ensembl
CA3349075
rs768702870
342 D>N No ClinGen
ExAC
gnomAD
rs368758398
CA3349077
343 I>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368758398
CA3349078
343 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs754045614
CA3349079
345 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA122912737
rs759852028
345 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA3349080
rs759852028
345 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA3349081
rs765575970
347 I>V No ClinGen
ExAC
gnomAD
CA3349107
rs780695100
350 G>V No ClinGen
ExAC
gnomAD
rs749886141
CA3349108
353 Q>* No ClinGen
ExAC
gnomAD
rs779822703
CA3349110
356 E>* No ClinGen
ExAC
CA360469521
rs1211595559
359 E>A No ClinGen
TOPMed
gnomAD
CA360469529
rs1440723662
360 D>G No ClinGen
TOPMed
gnomAD
rs1242884157
CA360469539
361 I>M No ClinGen
gnomAD
CA3349113
rs779028242
361 I>T No ClinGen
ExAC
gnomAD
rs748053618
CA3349114
362 R>G No ClinGen
ExAC
gnomAD
rs1167083146
CA360469549
363 K>T No ClinGen
gnomAD
CA360469565
rs1372139810
365 L>S No ClinGen
TOPMed
rs141806007
CA3349115
367 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1478642689
CA360469586
368 S>A No ClinGen
TOPMed
CA3349116
rs776833934
368 S>C No ClinGen
ExAC
gnomAD
rs202036278
CA360469592
369 G>A No ClinGen
1000Genomes
TOPMed
CA122918734
rs969573267
369 G>R No ClinGen
TOPMed
gnomAD
CA122918739
rs202036278
369 G>V No ClinGen
1000Genomes
TOPMed
rs770047415
CA3349118
372 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs775637359
CA3349119
373 N>D No ClinGen
ExAC
gnomAD
rs926953625
CA122918757
373 N>K No ClinGen
TOPMed
rs762440009
CA360469666
380 C>F No ClinGen
ExAC
CA3349124
rs762440009
380 C>Y No ClinGen
ExAC
CA3349125
rs539979625
382 L>F No ClinGen
1000Genomes
ExAC
gnomAD
CA360469685
rs1234778525
383 K>T No ClinGen
gnomAD
rs1338883829
CA360469692
384 T>A No ClinGen
TOPMed
CA360469703
rs1249774848
386 G>R No ClinGen
TOPMed
rs752581957
CA3349151
392 R>S No ClinGen
ExAC
gnomAD
rs1334172546
CA360470124
393 N>S No ClinGen
TOPMed
CA360470136
rs1251685131
395 K>E No ClinGen
gnomAD
CA360470143
rs1482388419
396 T>P No ClinGen
gnomAD
rs1482388419
CA360470145
396 T>S No ClinGen
gnomAD
CA360470187
rs899529990
402 P>A No ClinGen
TOPMed
gnomAD
CA3349153
rs777794232
402 P>R No ClinGen
ExAC
gnomAD
rs899529990
CA122922969
402 P>S No ClinGen
TOPMed
gnomAD
CA360470197
rs756196984
COSM1071391
404 W>R endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs756196984
CA3349155
COSM1071391
404 W>R endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1028846729
CA122922997
406 Y>C No ClinGen
TOPMed
gnomAD
rs1477966609
CA360470232
408 T>S No ClinGen
gnomAD
CA3349156
rs780165004
409 S>F No ClinGen
ExAC
TOPMed
rs953352234
CA122923004
409 S>P No ClinGen
Ensembl
CA3349159
rs768905935
417 P>L No ClinGen
ExAC
gnomAD
CA360470306
rs1395541097
419 L>F No ClinGen
gnomAD
rs1206115383
CA360470309
419 L>R No ClinGen
TOPMed
CA3349164
rs368331385
421 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs771554966
CA3349165
422 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs201479791
CA3349167
425 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1258841322
CA360470355
426 I>M No ClinGen
gnomAD
rs1312167003
CA360470395
428 G>D No ClinGen
gnomAD
rs41276257
CA3349184
429 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1486642574
CA360470418
430 T>I No ClinGen
gnomAD
rs1477097478
CA360470678
437 I>L No ClinGen
TOPMed
rs775218445
CA3349187
441 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs762569814
CA3349188
441 R>H No ClinGen
ExAC
gnomAD
rs763796871
CA3349189
442 C>* No ClinGen
ExAC
gnomAD
CA3349190
rs751395803
443 E>G No ClinGen
ExAC
gnomAD
CA122933387
rs376618967
445 M>L No ClinGen
ESP
TOPMed
rs1443816459
CA360470745
447 A>V No ClinGen
TOPMed
CA3349191
rs199795870
450 N>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA360470819
rs767418081
453 Y>* No ClinGen
TOPMed
gnomAD
CA3349192
rs140018802
454 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA122933401
rs1022140248
458 S>N No ClinGen
TOPMed
rs1301203105
CA360470898
460 L>R No ClinGen
TOPMed
rs267600738
CA122933407
461 I>N No ClinGen
Ensembl
rs267600739
CA122933421
462 P>H No ClinGen
gnomAD
rs267600739
CA360470915
462 P>L No ClinGen
gnomAD
CA3349193
rs750321389
462 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs202221789
CA3349196
463 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs202221789
CA3349195
463 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs977587498
CA122933452
464 Y>C No ClinGen
TOPMed
rs977587498
CA360470930
464 Y>S No ClinGen
TOPMed
rs1356521564
CA360471005
470 T>I No ClinGen
Ensembl
CA3349197
rs758619162
471 F>S No ClinGen
ExAC
gnomAD
rs778114482
CA3349198
472 L>V No ClinGen
ExAC
gnomAD
rs1172072485
CA360471031
473 S>P No ClinGen
TOPMed
rs1267057561
CA360471077
476 E>D No ClinGen
gnomAD
CA122933485
rs1027913373
477 Y>H No ClinGen
Ensembl
CA360471117
rs1215316551
480 T>A No ClinGen
TOPMed
gnomAD
rs1247135817
CA360471121
480 T>R No ClinGen
gnomAD
CA3349199
rs757571783
482 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA360471141
rs1488038053
482 S>T No ClinGen
gnomAD
CA122936445
rs1021866302
486 A>V No ClinGen
Ensembl
CA3349218
rs751794670
488 I>M No ClinGen
ExAC
gnomAD
rs533229431
CA3349217
488 I>V No ClinGen
1000Genomes
ExAC
gnomAD
CA360471466
rs1389671354
492 M>V No ClinGen
gnomAD
rs1306723049
CA360471482
494 L>I No ClinGen
gnomAD
rs1309766597
CA360471514
499 E>K No ClinGen
gnomAD
CA360471543
rs1236973678
502 Q>R No ClinGen
TOPMed
rs546495498
CA3349221
509 I>M No ClinGen
1000Genomes
ExAC
gnomAD
CA3349224
rs768785366
514 I>F No ClinGen
ExAC
TOPMed
gnomAD
rs774022482
CA3349226
517 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs1274928285
CA561269729
518 L>* No ClinGen
gnomAD
rs191658530
CA122936514
521 M>V No ClinGen
1000Genomes
rs376160299
CA3349227
522 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3349228
rs201279260
523 S>N No ClinGen
1000Genomes
ExAC
gnomAD
CA122936520
rs1021216075
COSM333464
523 S>R lung [Cosmic] No ClinGen
cosmic curated
TOPMed
rs1408106891
CA360471688
524 R>G No ClinGen
gnomAD
rs201144175
CA3349230
524 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs549144030
CA3349229
524 R>T No ClinGen
1000Genomes
ExAC
CA122936546
rs960499037
527 A>E No ClinGen
Ensembl
rs766280501
CA3349231
529 M>V No ClinGen
ExAC
gnomAD
rs776569745
CA3349232
532 D>N No ClinGen
ExAC
gnomAD
rs762977461
CA3349233
533 I>T No ClinGen
ExAC
gnomAD
CA3349234
rs764223665
534 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA360471764
rs1339498302
535 D>E No ClinGen
gnomAD
CA360471765
rs1445449510
536 L>M No ClinGen
TOPMed
gnomAD
CA3349236
rs762167988
539 K>R No ClinGen
ExAC
gnomAD
CA360471791
rs1580429287
540 A>T No ClinGen
Ensembl
rs1350014861
CA360471796
540 A>V No ClinGen
gnomAD
CA3349237
rs767849147
541 K>E No ClinGen
ExAC
gnomAD
CA122940531
rs1021366794
544 H>R No ClinGen
Ensembl
CA3349251
rs770724246
546 D>V No ClinGen
ExAC
gnomAD
rs1452555394
CA360472728
554 H>R No ClinGen
gnomAD
rs756214266
CA122940559
558 T>A No ClinGen
Ensembl
rs1195146317
CA360472799
560 Y>H No ClinGen
Ensembl
rs767865649
CA3349257
564 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs1160801880
CA360472843
565 Q>R No ClinGen
gnomAD
CA3349258
rs750592912
567 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA3349259
rs759336231
568 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs764271718
CA3349260
571 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs745672890
CA3349287
577 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA3349288
rs369189307
577 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA360473095
rs369189307
577 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780172728
CA3349289
578 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs1424089978
CA360473111
580 V>I No ClinGen
gnomAD
CA360473137
rs1332209436
583 H>R No ClinGen
TOPMed
rs1436725232
CA360473151
585 W>* No ClinGen
TOPMed
rs1580435522
CA360473161
586 P>L No ClinGen
Ensembl
rs1366429293
CA360473159
586 P>S No ClinGen
gnomAD
CA360473168
rs1169091458
COSM167902
587 S>L large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1187505874
CA360473181
589 M>I No ClinGen
TOPMed
rs747053110
CA122943842
589 M>R No ClinGen
ExAC
TOPMed
gnomAD
CA3349293
rs747053110
589 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs1403169469
CA360473186
590 Y>C No ClinGen
gnomAD
CA3349294
rs771239787
590 Y>H No ClinGen
ExAC
gnomAD
rs190681125
CA3349295
593 Q>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs148767115
CA3349296
COSM3141787
595 A>V prostate [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs765540949
CA3349297
600 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1486407480
CA360473256
600 Y>H No ClinGen
TOPMed
rs763493521
CA3349299
603 S>Y No ClinGen
ExAC
gnomAD
rs374462478
CA3349301
604 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3349300
rs368977972
604 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs756665667
CA3349302
605 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA3349303
rs767205027
607 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA3349304
rs200421879
607 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780043401
CA3349306
609 L>F No ClinGen
ExAC
rs749058736
CA3349307
611 M>T No ClinGen
ExAC
gnomAD

No associated diseases with O94955

2 regional properties for O94955

Type Name Position InterPro Accession
domain BTB/POZ domain 245 - 386 IPR000210-1
domain BTB/POZ domain 414 - 518 IPR000210-2

Functions

Description
EC Number
Subcellular Localization
  • Golgi apparatus
PANTHER Family PTHR24413 SPECKLE-TYPE POZ PROTEIN
PANTHER Subfamily PTHR24413:SF237 RHO-RELATED BTB DOMAIN-CONTAINING PROTEIN 3
PANTHER Protein Class ubiquitin-protein ligase
protein modifying enzyme
PANTHER Pathway Category No pathway information available

8 GO annotations of cellular component

Name Definition
cell cortex The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins.
cell projection A prolongation or process extending from a cell, e.g. a flagellum or axon.
cytoplasmic vesicle A vesicle found in the cytoplasm of a cell.
cytoskeleton A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
trans-Golgi network membrane The lipid bilayer surrounding any of the compartments that make up the trans-Golgi network.

6 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
GTP binding Binding to GTP, guanosine triphosphate.
GTPase activity Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate.
protein kinase binding Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
small GTPase binding Binding to a small monomeric GTPase.

9 GO annotations of biological process

Name Definition
actin filament organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments. Includes processes that control the spatial distribution of actin filaments, such as organizing filaments into meshworks, bundles, or other structures, as by cross-linking.
cell migration The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
cortical cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures in the cell cortex, i.e. just beneath the plasma membrane.
establishment or maintenance of cell polarity Any cellular process that results in the specification, formation or maintenance of anisotropic intracellular organization or cell growth patterns.
male gonad development The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure.
regulation of actin cytoskeleton organization Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
regulation of cell shape Any process that modulates the surface configuration of a cell.
retrograde transport, endosome to Golgi The directed movement of membrane-bounded vesicles from endosomes back to the trans-Golgi network where they are recycled for further rounds of transport.
small GTPase mediated signal transduction The series of molecular signals in which a small monomeric GTPase relays a signal.

37 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P61585 RHOA Transforming protein RhoA Bos taurus (Bovine) PR
Q1RMJ6 RHOC Rho-related GTP-binding protein RhoC Bos taurus (Bovine) PR
Q17QI8 Rhov Rho-related GTP-binding protein RhoV Bos taurus (Bovine) PR
Q2HJ68 RND1 Rho-related GTP-binding protein Rho6 Bos taurus (Bovine) PR
Q3ZBW5 RHOB Rho-related GTP-binding protein RhoB Bos taurus (Bovine) PR
Q9PSX7 RHOC Rho-related GTP-binding protein RhoC Gallus gallus (Chicken) PR
P48148 Rho1 Ras-like GTP-binding protein Rho1 Drosophila melanogaster (Fruit fly) PR
Q96L33 RHOV Rho-related GTP-binding protein RhoV Homo sapiens (Human) PR
P62745 RHOB Rho-related GTP-binding protein RhoB Homo sapiens (Human) PR
P08134 RHOC Rho-related GTP-binding protein RhoC Homo sapiens (Human) PR
Q92730 RND1 Rho-related GTP-binding protein Rho6 Homo sapiens (Human) PR
P61587 RND3 Rho-related GTP-binding protein RhoE Homo sapiens (Human) PR
P61586 RHOA Transforming protein RhoA Homo sapiens (Human) PR
O94844 RHOBTB1 Rho-related BTB domain-containing protein 1 Homo sapiens (Human) PR
Q6IQ16 SPOPL Speckle-type POZ protein-like Homo sapiens (Human) PR
Q62159 Rhoc Rho-related GTP-binding protein RhoC Mus musculus (Mouse) PR
Q8BLR7 Rnd1 Rho-related GTP-binding protein Rho6 Mus musculus (Mouse) PR
Q9QUI0 Rhoa Transforming protein RhoA Mus musculus (Mouse) PR
P61588 Rnd3 Rho-related GTP-binding protein RhoE Mus musculus (Mouse) PR
Q8VDU1 Rhov Rho-related GTP-binding protein RhoV Mus musculus (Mouse) PR
P62746 Rhob Rho-related GTP-binding protein RhoB Mus musculus (Mouse) PR
Q9DAK3 Rhobtb1 Rho-related BTB domain-containing protein 1 Mus musculus (Mouse) PR
Q9CTN4 Rhobtb3 Rho-related BTB domain-containing protein 3 Mus musculus (Mouse) SS
O77683 RND3 Rho-related GTP-binding protein RhoE Sus scrofa (Pig) PR
Q6SA80 Rnd3 Rho-related GTP-binding protein RhoE Rattus norvegicus (Rat) PR
P62747 Rhob Rho-related GTP-binding protein RhoB Rattus norvegicus (Rat) PR
Q9Z1Y0 Rhov Rho-related GTP-binding protein RhoV Rattus norvegicus (Rat) PR
P61589 Rhoa Transforming protein RhoA Rattus norvegicus (Rat) PR
Q9SSX0 RAC1 Rac-like GTP-binding protein 1 Oryza sativa subsp japonica (Rice) PR
Q6Z808 RAC3 Rac-like GTP-binding protein 3 Oryza sativa subsp japonica (Rice) PR
Q68Y52 RAC2 Rac-like GTP-binding protein 2 Oryza sativa subsp japonica (Rice) PR
Q67VP4 RAC4 Rac-like GTP-binding protein 4 Oryza sativa subsp japonica (Rice) PR
Q22038 rho-1 Ras-like GTP-binding protein rhoA Caenorhabditis elegans PR
Q9SU67 ARAC8 Rac-like GTP-binding protein ARAC8 Arabidopsis thaliana (Mouse-ear cress) PR
O82480 ARAC7 Rac-like GTP-binding protein ARAC7 Arabidopsis thaliana (Mouse-ear cress) PR
Q38903 ARAC2 Rac-like GTP-binding protein ARAC2 Arabidopsis thaliana (Mouse-ear cress) PR
O82481 ARAC10 Rac-like GTP-binding protein ARAC10 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MSIHIVALGN EGDTFHQDNR PSGLIRTYLG RSPLVSGDES SLLLNAASTV ARPVFTEYQA
70 80 90 100 110 120
SAFGNVKLVV HDCPVWDIFD SDWYTSRNLI GGADIIVIKY NVNDKFSFHE VKDNYIPVIK
130 140 150 160 170 180
RALNSVPVII AAVGTRQNEE LPCTCPLCTS DRGSCVSTTE GIQLAKELGA TYLELHSLDD
190 200 210 220 230 240
FYIGKYFGGV LEYFMIQALN QKTSEKMKKR KMSNSFHGIR PPQLEQPEKM PVLKAEASHY
250 260 270 280 290 300
NSDLNNLLFC CQCVDVVFYN PNLKKVVEAH KIVLCAVSHV FMLLFNVKSP TDIQDSSIIR
310 320 330 340 350 360
TTQDLFAINR DTAFPGASHE SSGNPPLRVI VKDALFCSCL SDILRFIYSG AFQWEELEED
370 380 390 400 410 420
IRKKLKDSGD VSNVIEKVKC ILKTPGKINC LRNCKTYQAR KPLWFYNTSL KFFLNKPMLA
430 440 450 460 470 480
DVVFEIQGTT VPAHRAILVA RCEVMAAMFN GNYMEAKSVL IPVYGVSKET FLSFLEYLYT
490 500 510 520 530 540
DSCCPAGIFQ AMCLLICAEM YQVSRLQHIC ELFIITQLQS MPSRELASMN LDIVDLLKKA
550 560 570 580 590 600
KFHHSDCLST WLLHFIATNY LIFSQKPEFQ DLSVEERSFV EKHRWPSNMY LKQLAEYRKY
610
IHSRKCRCLV M