Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q8WXH6

Entry ID Method Resolution Chain Position Source
AF-Q8WXH6-F1 Predicted AlphaFoldDB

184 variants for Q8WXH6

Variant ID(s) Position Change Description Diseaes Association Provenance
CA10478125
rs747768091
3 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs151089214
CA10478123
4 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774176105
CA10478124
4 P>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 5 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414094971
rs1255461928
6 S>T No ClinGen
gnomAD
CA10478121
rs781486877
8 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs1228326169
CA414094936
11 Y>C No ClinGen
gnomAD
rs1456977807
CA414094922
13 F>V No ClinGen
TOPMed
CA10478118
rs747531234
15 L>F No ClinGen
ExAC
gnomAD
CA414094877
rs1569373337
20 V>A No ClinGen
Ensembl
CA10478113
rs754699682
20 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA10478111
rs766145292
21 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA10478108
rs767094102
CA10478109
23 R>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 24 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 25 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1316652276
CA10478105
28 S>G No ClinGen
TOPMed
CA10478103
rs768429730
29 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA414094803
rs1205043704
32 E>K No ClinGen
TOPMed
gnomAD
CA414094802
rs1205043704
32 E>Q No ClinGen
TOPMed
gnomAD
TCGA novel 33 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1245934265
CA414094762
37 G>D No ClinGen
TOPMed
gnomAD
TCGA novel 37 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414094759
rs1476823292
38 A>T No ClinGen
TOPMed
CA10478096
rs778284959
41 S>Y No ClinGen
ExAC
gnomAD
CA10478095
rs61739206
42 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs61739206
CA414094731
42 P>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA414094734
rs1392747845
42 P>S No ClinGen
TOPMed
gnomAD
rs1180895
VAR_034435
CA10478091
45 H>L No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA414094710
rs1180895
45 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs755888694
CA10478088
47 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs755888694
CA414094697
47 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA414094700
rs1445381780
47 G>R No ClinGen
TOPMed
gnomAD
CA414094698
rs1445381780
47 G>W No ClinGen
TOPMed
gnomAD
CA10478087
rs750324217
48 G>R No ClinGen
ExAC
gnomAD
CA10478086
rs767572744
48 G>V No ClinGen
ExAC
gnomAD
CA10478082
rs763759164
53 T>M No ClinGen
ExAC
gnomAD
CA10478081
rs762648669
55 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA333980494
rs966409211
62 R>L No ClinGen
TOPMed
rs1424332308
CA414094587
64 K>N No ClinGen
TOPMed
CA414094572
rs1324052062
67 L>I No ClinGen
TOPMed
gnomAD
CA414094558
rs1569373180
68 W>C No ClinGen
Ensembl
rs1386208647
CA414094555
69 D>H No ClinGen
gnomAD
CA10478079
rs150769035
70 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA414094533
rs1431826458
72 G>E No ClinGen
gnomAD
CA414094514
rs1466328604
75 R>K No ClinGen
TOPMed
rs1429209528
CA414094484
79 I>T No ClinGen
gnomAD
CA10478076
rs773653058
79 I>V No ClinGen
ExAC
gnomAD
CA10478075
rs141221975
81 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
rs1603127895
CA414094459
83 Y>C No ClinGen
Ensembl
rs1399480392
CA414094447
85 R>C No ClinGen
TOPMed
rs1250115184
CA414094445
85 R>P No ClinGen
gnomAD
CA10478071
rs749481852
86 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs373230359
CA10478073
86 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10478072
rs749481852
86 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs780159934
CA10478070
91 I>N No ClinGen
ExAC
TOPMed
gnomAD
CA414094406
rs1313185619
92 L>V No ClinGen
TOPMed
CA414094388
rs1271781241
95 D>N No ClinGen
TOPMed
gnomAD
rs757251431
CA10478066
97 A>T No ClinGen
ExAC
gnomAD
TCGA novel 97 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1346504989
CA414094366
98 N>H No ClinGen
gnomAD
CA10478065
COSM1112267
rs751600194
99 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA414094358
COSM1222946
rs763629323
99 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs763629323
CA10478064
99 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA414094360
rs751600194
99 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA414094352
rs1189436213
100 W>S No ClinGen
TOPMed
CA10478063
rs762402139
103 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA10478062
rs752347051
104 G>D No ClinGen
ExAC
gnomAD
rs1200843598
CA414094310
106 D>N No ClinGen
gnomAD
rs764812559
CA10478061
COSM456386
107 R>* Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
rs1369728730
CA414094299
108 W>R No ClinGen
gnomAD
CA10478060
rs759299291
111 K>N No ClinGen
ExAC
rs773550779
CA10478059
112 I>M No ClinGen
ExAC
gnomAD
rs1569373097
CA414094269
112 I>V No ClinGen
Ensembl
CA10478058
rs767918054
114 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA10478057
rs762276906
116 A>V No ClinGen
ExAC
gnomAD
rs774866227
CA10478056
119 V>I No ClinGen
ExAC
gnomAD
TCGA novel 120 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1480170686
CA414094212
121 K>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA414094188
rs1427761871
124 V>A No ClinGen
TOPMed
gnomAD
CA10478055
rs371275239
127 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs761009017
CA10478054
129 H>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 130 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10478053
rs775713127
136 V>G No ClinGen
ExAC
gnomAD
rs746153555
CA414094104
137 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA10478051
rs746153555
137 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA10478050
rs781115320
139 E>G No ClinGen
ExAC
gnomAD
rs746904012
CA10478048
140 Q>K No ClinGen
ExAC
gnomAD
TCGA novel 141 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777595191
CA10478047
142 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs764858205
CA414094055
145 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs764858205
CA10478045
145 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs764858205
CA10478044
145 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs899227657
CA333980492
146 E>K No ClinGen
TOPMed
CA10478041
rs767829004
147 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA10478042
rs767829004
147 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs376866345
CA10478040
147 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774780041
COSM1555927
CA10478039
149 G>D lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs763586428
CA10478037
152 F>S No ClinGen
ExAC
gnomAD
CA10478036
rs775421781
155 V>I No ClinGen
ExAC
gnomAD
rs1264801865
CA414093970
159 C>S No ClinGen
TOPMed
CA414093962
rs1473994815
160 N>Y No ClinGen
TOPMed
gnomAD
CA10478035
rs769970085
161 F>I No ClinGen
ExAC
gnomAD
CA10478034
rs139017752
162 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1398173695
CA414093941
COSM754858
163 I>V lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA10478033
rs777025945
164 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA10478031
rs373670392
165 E>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 166 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs746814533
CA10478030
167 F>S No ClinGen
ExAC
TOPMed
gnomAD
rs1229771733
CA414093915
167 F>V No ClinGen
TOPMed
gnomAD
rs777702038
CA10478029
168 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs778254688
CA10478026
177 R>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 178 H>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414092957
rs1345071785
179 R>G No ClinGen
TOPMed
gnomAD
CA414092945
rs1157580185
179 R>T No ClinGen
gnomAD
CA10478024
CA10478023
rs774456340
180 M>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200052902
CA333980491
181 N>Y No ClinGen
1000Genomes
CA414092855
rs1182591922
182 W>* No ClinGen
TOPMed
gnomAD
CA414092849
rs1182591922
CA414092852
182 W>C No ClinGen
TOPMed
gnomAD
rs866456214
CA333980490
183 L>F No ClinGen
Ensembl
rs751863768
CA10478021
183 L>R No ClinGen
ExAC
gnomAD
rs1188683667
CA414092836
184 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA414092807
rs1430458386
185 R>K No ClinGen
TOPMed
gnomAD
rs1166826409
CA414092784
186 P>L No ClinGen
gnomAD
CA333980489
rs866129912
186 P>S No ClinGen
gnomAD
CA414092706
rs1240228395
191 S>G No ClinGen
TOPMed
gnomAD
TCGA novel 194 D>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1187911246
COSM1464547
CA414092621
195 L>I large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA10478019
rs369502037
198 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
TCGA novel 198 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1290842331
CA414092567
198 R>L No ClinGen
gnomAD
CA414092563
rs1245494208
199 T>N No ClinGen
gnomAD
rs1357612739
CA414092559
200 I>L No ClinGen
gnomAD
CA333980487
rs200705021
202 S>C No ClinGen
Ensembl
rs1457170112
CA10478017
203 C>Y No ClinGen
TOPMed
rs1382796878
CA414092509
204 T>A No ClinGen
gnomAD
TCGA novel 204 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414092497
rs1361369886
205 P>T No ClinGen
gnomAD
rs753291130
CA10478015
206 V>L No ClinGen
ExAC
gnomAD
rs765372204
CA10478014
208 L>V No ClinGen
ExAC
gnomAD
rs1170727541
CA414092395
215 P>S No ClinGen
gnomAD
rs200647197
CA333980485
216 S>I No ClinGen
1000Genomes
TOPMed
gnomAD
CA333980484
rs201466501
217 T>A No ClinGen
1000Genomes
TOPMed
gnomAD
rs761047526
CA10478011
218 L>* No ClinGen
ExAC
gnomAD
rs761047526
CA10478010
218 L>S No ClinGen
ExAC
gnomAD
CA10478009
rs139389579
220 S>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1169195385
CA414092342
223 K>R No ClinGen
TOPMed
rs61735524
CA10478008
224 S>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA414092338
rs1423465648
224 S>T No ClinGen
TOPMed
rs1445321985
CA414092318
227 M>V No ClinGen
TOPMed
rs150450642
CA333980483
229 K>E No ClinGen
ESP
TOPMed
gnomAD
CA10478005
rs778931704
233 A>P No ClinGen
ExAC
gnomAD
CA414092270
rs1306984673
234 R>T No ClinGen
gnomAD
rs1355573610
CA414092263
235 M>K No ClinGen
TOPMed
TCGA novel 236 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs182368469
CA10478004
COSM3390349
237 R>* pancreas [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA414092246
rs1221413109
COSM1112264
237 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA333980482
rs914972603
238 G>D No ClinGen
TOPMed
gnomAD
CA414092240
rs914972603
238 G>V No ClinGen
TOPMed
gnomAD
CA10478003
rs748797927
239 L>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 241 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414092202
rs1372804171
245 T>A No ClinGen
gnomAD
CA10478002
rs199669744
245 T>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs755752786
CA10478001
246 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA10477999
rs777972100
249 H>D No ClinGen
ExAC
TOPMed
gnomAD
rs1177657701
CA414092172
249 H>Q No ClinGen
gnomAD
CA414092167
rs1480497772
250 K>R No ClinGen
gnomAD
TCGA novel 252 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414092147
rs1197202899
253 L>I No ClinGen
gnomAD
rs1603127288
CA414092140
254 C>R No ClinGen
Ensembl
CA414092138
rs1263187895
254 C>Y No ClinGen
TOPMed
CA10477993
rs765895461
255 K>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA414092118
rs1423462888
257 E>A No ClinGen
TOPMed
rs140511113
CA10477992
257 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1410927619
CA414092106
259 V>I No ClinGen
TOPMed
gnomAD
CA10477991
rs753964301
261 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA414092091
rs753964301
261 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs969310648
CA333980480
263 Q>K No ClinGen
Ensembl
rs1249656909
CA414092073
264 S>G No ClinGen
gnomAD
CA414092068
rs1603127205
264 S>R No ClinGen
Ensembl
CA414092070
rs1375613587
264 S>T No ClinGen
TOPMed
rs758294266
CA10477990
266 P>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs758294266
CA333980479
266 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA414092029
rs1339817420
270 T>N No ClinGen
TOPMed
rs1283130941
CA414092021
271 R>S No ClinGen
TOPMed
gnomAD

No associated diseases with Q8WXH6

6 regional properties for Q8WXH6

Type Name Position InterPro Accession
domain FKBP-type peptidyl-prolyl cis-trans isomerase domain 46 - 147 IPR001179-1
domain FKBP-type peptidyl-prolyl cis-trans isomerase domain 175 - 256 IPR001179-2
domain FKBP-type peptidyl-prolyl cis-trans isomerase domain 291 - 383 IPR001179-3
repeat Tetratricopeptide repeat 400 - 433 IPR019734-1
repeat Tetratricopeptide repeat 449 - 482 IPR019734-2
repeat Tetratricopeptide repeat 483 - 516 IPR019734-3

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Lipid-anchor ; Cytoplasmic side
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
endosome A vacuole to which materials ingested by endocytosis are delivered.
intracellular membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
synaptic vesicle A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane.

2 GO annotations of molecular function

Name Definition
GTP binding Binding to GTP, guanosine triphosphate.
GTPase activity Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate.

3 GO annotations of biological process

Name Definition
intracellular signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
protein localization to plasma membrane A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane.
protein ubiquitination The process in which one or more ubiquitin groups are added to a protein.

28 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P07560 SEC4 Ras-related protein SEC4 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
Q2HJI8 RAB8B Ras-related protein Rab-8B Bos taurus (Bovine) PR
A4FV54 RAB8A Ras-related protein Rab-8A Bos taurus (Bovine) PR
Q1RMR4 RAB15 Ras-related protein Rab-15 Bos taurus (Bovine) PR
Q5F470 RAB8A Ras-related protein Rab-8A Gallus gallus (Chicken) PR
P0C0E4 RAB40AL Ras-related protein Rab-40A-like Homo sapiens (Human) PR
Q12829 RAB40B Ras-related protein Rab-40B Homo sapiens (Human) PR
Q6IQ22 RAB12 Ras-related protein Rab-12 Homo sapiens (Human) PR
Q92930 RAB8B Ras-related protein Rab-8B Homo sapiens (Human) PR
Q96S21 RAB40C Ras-related protein Rab-40C Homo sapiens (Human) PR
P61006 RAB8A Ras-related protein Rab-8A Homo sapiens (Human) PR
P59190 RAB15 Ras-related protein Rab-15 Homo sapiens (Human) PR
P55258 Rab8a Ras-related protein Rab-8A Mus musculus (Mouse) PR
Q8K386 Rab15 Ras-related protein Rab-15 Mus musculus (Mouse) PR
P61028 Rab8b Ras-related protein Rab-8B Mus musculus (Mouse) PR
P35283 Rab12 Ras-related protein Rab-12 Mus musculus (Mouse) PR
Q9DD03 Rab13 Ras-related protein Rab-13 Mus musculus (Mouse) PR
Q8CB87 Rab44 Ras-related protein Rab-44 Mus musculus (Mouse) PR
Q8VHQ4 Rab40c Ras-related protein Rab-40C Mus musculus (Mouse) PR
Q8VHP8 Rab40b Ras-related protein Rab-40B Mus musculus (Mouse) PR
P35289 Rab15 Ras-related protein Rab-15 Rattus norvegicus (Rat) PR
P35280 Rab8a Ras-related protein Rab-8A Rattus norvegicus (Rat) PR
P70550 Rab8b Ras-related protein Rab-8B Rattus norvegicus (Rat) PR
P35284 Rab12 Ras-related protein Rab-12 Rattus norvegicus (Rat) PR
P35281 Rab10 Ras-related protein Rab-10 Rattus norvegicus (Rat) PR
O24466 RABE1A Ras-related protein RABE1a Arabidopsis thaliana (Mouse-ear cress) PR
Q9SF91 RABE1E Ras-related protein RABE1e Arabidopsis thaliana (Mouse-ear cress) PR
Q9LZD4 RABE1D Ras-related protein RABE1d Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MSAPGSPDQA YDFLLKFLLV GDRDVGKSEI LESLQDGAAE SPYSHLGGID YKTTTILLDG
70 80 90 100 110 120
QRVKLKLWDT SGQGRFCTIF RSYSRGAQGV ILVYDIANRW SFEGMDRWIK KIEEHAPGVP
130 140 150 160 170 180
KILVGNRLHL AFKRQVPREQ AQAYAERLGV TFFEVSPLCN FNIIESFTEL ARIVLLRHRM
190 200 210 220 230 240
NWLGRPSKVL SLQDLCCRTI VSCTPVHLVD KLPLPSTLRS HLKSFSMAKG LNARMMRGLS
250 260 270
YSLTTSSTHK SSLCKVEIVC PPQSPPKNCT RNSCKIS