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

2 structures for Q86WV1

Entry ID Method Resolution Chain Position Source
1U5D X-ray 170 A A/B/C/D 108-213 PDB
AF-Q86WV1-F1 Predicted AlphaFoldDB

281 variants for Q86WV1

Variant ID(s) Position Change Description Diseaes Association Provenance
CA400316228
rs1351608116
2 Q>R No ClinGen
gnomAD
rs1259877653
CA400316224
3 A>T No ClinGen
gnomAD
rs751222794
CA8631623
4 A>T No ClinGen
ExAC
gnomAD
rs1236892796
CA400316196
7 P>L No ClinGen
gnomAD
CA8631621
rs762740429
9 E>K No ClinGen
ExAC
gnomAD
CA400316173
rs1350430741
11 R>G No ClinGen
gnomAD
CA400316169
rs1387810311
11 R>P No ClinGen
TOPMed
CA400316166
rs1448578017
12 W>R No ClinGen
TOPMed
rs148514032
CA8631612
17 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400314061
rs1356696565
18 E>K No ClinGen
gnomAD
rs1026271488
CA291164971
21 L>V No ClinGen
gnomAD
rs1236319510
CA400314027
23 E>K No ClinGen
gnomAD
CA8631611
rs748506982
24 G>D No ClinGen
ExAC
CA8631607
rs201863491
26 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8631609
rs11079820
26 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1322618930
CA400314003
27 N>D No ClinGen
TOPMed
rs1017344726
CA400313997
27 N>K No ClinGen
TOPMed
TCGA novel 30 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1226061277
CA400313973
31 S>G No ClinGen
TOPMed
CA8631606
rs550600837
31 S>T No ClinGen
1000Genomes
ExAC
gnomAD
CA291164963
rs939886164
32 A>T No ClinGen
TOPMed
gnomAD
CA8631604
rs746503212
32 A>V No ClinGen
ExAC
gnomAD
rs777440307
CA8631603
33 V>A No ClinGen
ExAC
gnomAD
CA8631602
rs758006067
34 A>E No ClinGen
ExAC
gnomAD
rs1229847951
CA400313958
34 A>T No ClinGen
TOPMed
rs1453786574
CA400313916
39 D>E No ClinGen
gnomAD
rs753812443
CA8631598
40 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA291164957
rs1051329325
41 I>F No ClinGen
TOPMed
gnomAD
TCGA novel 41 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs112999194
CA8631597
43 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8631596
rs112999194
43 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA291164955
rs116549994
43 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
TOPMed
gnomAD
CA8631595
rs773197690
46 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs146257434
CA291164952
47 Q>E No ClinGen
ESP
TOPMed
gnomAD
CA8631594
CA8631593
rs761919700
47 Q>H No ClinGen
ExAC
gnomAD
rs1309287514
CA400313857
49 K>R No ClinGen
gnomAD
CA8631592
rs373333526
50 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1232920630
CA400313853
50 A>S No ClinGen
TOPMed
gnomAD
CA291158927
rs990867731
52 Y>C No ClinGen
TOPMed
rs756028307
CA8631576
52 Y>N No ClinGen
ExAC
gnomAD
rs372268674
CA8631574
53 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA291158921
rs887085975
54 W>L No ClinGen
Ensembl
CA400313122
rs1567884117
55 D>Y No ClinGen
Ensembl
rs866208824
CA291158918
57 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA8631573
rs368159992
58 P>A No ClinGen
ExAC
gnomAD
rs1414269659
CA400313098
58 P>L No ClinGen
gnomAD
rs368159992
CA8631572
58 P>T No ClinGen
ExAC
gnomAD
rs764249578 60 G>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA400312459
rs751645756
60 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA291154528
rs751645756
60 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA8631551
rs751645756
60 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs866976111
CA291154517
61 G>* No ClinGen
gnomAD
TCGA novel 62 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs114223532
CA400312441
63 I>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs114223532
CA8631548
63 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8631547
rs765511266
65 Q>* No ClinGen
ExAC
gnomAD
CA8631546
rs376131521
65 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1459376316
CA400312421
66 D>E No ClinGen
gnomAD
rs1598596432
CA400312427
66 D>N No ClinGen
Ensembl
rs373452898
CA291154477
68 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373452898
CA8631545
68 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400312400
rs771472546
69 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA400312405
rs1244505324
69 D>N No ClinGen
gnomAD
TCGA novel 69 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761364739
CA400312393
CA8631543
70 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1315078152
CA400312394
70 D>V No ClinGen
gnomAD
TCGA novel 73 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774021193
CA8631542
73 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8631538
rs769466816
74 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA8631540
COSM1734574
CA8631539
rs116419751
74 G>R pancreas [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 79 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757237792
CA8631535
82 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs377081667
CA8631533
83 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs758537059
CA8631532
84 A>T No ClinGen
ExAC
gnomAD
CA400312309
rs1438004436
84 A>V No ClinGen
gnomAD
rs1286782749
CA400312282
88 S>L No ClinGen
TOPMed
CA400312257
rs1209664574
COSM1172426
92 D>N oesophagus skin [Cosmic] No ClinGen
cosmic curated
gnomAD
rs141667170
CA8631530
93 E>K No ClinGen
ESP
ExAC
gnomAD
rs759751117
CA8631529
94 G>* No ClinGen
ExAC
gnomAD
rs376880992
CA8631518
95 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1290777525
CA400313826
95 M>V No ClinGen
TOPMed
CA8631517
rs746940081
96 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1379875054
CA400313805
97 D>E No ClinGen
gnomAD
CA8631516
rs777742001
97 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs1224901446
CA400313811
97 D>N No ClinGen
gnomAD
CA291055927
rs1036659799
98 I>V No ClinGen
Ensembl
rs748263980
CA8631514
99 V>I No ClinGen
ExAC
gnomAD
rs748263980
CA291055924
99 V>L No ClinGen
ExAC
gnomAD
CA400313769
rs1261334043
103 Q>L No ClinGen
gnomAD
rs1567812577
CA400313763
104 E>G No ClinGen
Ensembl
CA8631513
rs778961593
104 E>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 105 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8631511
rs754058141
108 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA8631510
rs766735166
112 G>R No ClinGen
ExAC
rs932858939
CA291055923
113 Y>C No ClinGen
Ensembl
rs1365187909
CA400313666
118 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs750956834
CA8631508
118 S>N No ClinGen
ExAC
gnomAD
rs1256487188
CA400313654
119 K>R No ClinGen
gnomAD
rs768155813
CA8631507
120 D>Y No ClinGen
ExAC
gnomAD
rs370712801
CA8631492
123 F>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
TCGA novel 124 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs368601769
CA8631490
COSM1563789
126 S>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA400313593
rs1199032711
126 S>P No ClinGen
gnomAD
TCGA novel 127 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200982650
CA291055743
129 Q>K No ClinGen
1000Genomes
COSM1610417
rs752043819
CA8631487
131 R>* liver [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA400313556
rs1482971217
131 R>Q No ClinGen
TOPMed
CA291055741
rs375916385
135 V>F No ClinGen
ESP
TOPMed
gnomAD
rs1333870902
CA400313522
136 S>N No ClinGen
gnomAD
rs759021727
CA8631485
COSM223886
138 G>D skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
TCGA novel 140 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766023837
CA400313485
CA8631483
141 Y>* No ClinGen
ExAC
gnomAD
rs371478605
CA8631482
143 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8631481
rs773010910
144 A>S No ClinGen
ExAC
gnomAD
rs984596720
CA291055439
149 K>R No ClinGen
Ensembl
rs765964736
CA8631466
153 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1454098344
CA400313385
154 T>A No ClinGen
TOPMed
rs750117051
CA8631465
157 I>L No ClinGen
ExAC
gnomAD
rs767297976
CA8631463
157 I>M No ClinGen
ExAC
gnomAD
rs750117051
CA8631464
157 I>V No ClinGen
ExAC
gnomAD
rs761570642
CA8631462
158 K>N No ClinGen
ExAC
gnomAD
rs774288550
CA8631461
159 G>S No ClinGen
ExAC
gnomAD
CA400313342
rs2278868
161 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2278868
VAR_029811
CA8631458
161 G>S No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 161 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400313330
rs1273505806
163 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs573034197
CA8631456
COSM1130244
163 R>W pancreas large_intestine prostate [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA400313325
rs1409839486
164 M>V No ClinGen
TOPMed
gnomAD
rs1439010314
CA400313314
165 A>G No ClinGen
gnomAD
CA400313310
rs1398260208
166 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA8631455
rs770050644
166 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771265934
CA8631452
167 H>N No ClinGen
ExAC
TOPMed
gnomAD
rs771265934
CA8631453
167 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA291055438
rs199779652
168 L>Q No ClinGen
ExAC
TOPMed
gnomAD
rs199779652
CA8631451
168 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA8631449
rs758850569
169 R>* No ClinGen
ExAC
gnomAD
rs138939780
CA8631448
COSM233371
169 R>Q Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8631447
rs779507054
171 D>E No ClinGen
ExAC
gnomAD
CA8631446
rs755689431
172 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA400313255
rs1598405298
175 E>D No ClinGen
Ensembl
rs868270032
CA291055437
175 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
TCGA novel 178 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA291055436
rs1004261231
178 F>S No ClinGen
TOPMed
rs1468961174
CA400313231
179 E>Q No ClinGen
TOPMed
CA400313223
rs1488989398
180 L>V No ClinGen
TOPMed
gnomAD
rs750065617
CA8631445
181 T>N No ClinGen
ExAC
gnomAD
CA400313209
rs1208809418
182 S>F No ClinGen
gnomAD
CA8631444
rs767091028
183 Q>* No ClinGen
ExAC
gnomAD
rs1277090542
CA400313205
183 Q>R No ClinGen
gnomAD
rs1017266798
CA291055435
186 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA8631443
rs761604918
COSM3795726
186 R>H Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 187 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400313167
rs1260084715
188 Y>* No ClinGen
gnomAD
CA400313162
rs1289590687
189 E>G No ClinGen
gnomAD
CA8631428
rs745387774
190 F>L No ClinGen
ExAC
gnomAD
rs780860622
CA8631427
195 P>A No ClinGen
ExAC
gnomAD
rs1466969226
CA400313038
195 P>L No ClinGen
gnomAD
rs939630563
CA291055130
196 A>G No ClinGen
TOPMed
rs944254274
CA291055128
199 R>G No ClinGen
Ensembl
CA8631425
rs751278029
205 I>V No ClinGen
ExAC
gnomAD
rs1567809293
CA400312964
206 S>N No ClinGen
Ensembl
CA8631424
rs146842117
206 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1598403164
CA400312960
207 F>I No ClinGen
Ensembl
CA8631423
rs758322592
207 F>S No ClinGen
ExAC
gnomAD
TCGA novel 208 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs142516955
CA400312933
210 K>N No ClinGen
ESP
ExAC
gnomAD
rs756836327
CA8631409
212 L>R No ClinGen
ExAC
gnomAD
rs1448215053
CA400312902
213 S>R No ClinGen
TOPMed
rs367654574
CA291054830
215 L>V No ClinGen
Ensembl
rs1370565104
CA400312883
216 T>N No ClinGen
TOPMed
rs1222641715
CA400312882
217 I>L No ClinGen
TOPMed
rs746625539
CA8631408
218 P>L No ClinGen
ExAC
gnomAD
CA400312873
rs1380251270
218 P>S No ClinGen
TOPMed
gnomAD
rs1325320595
CA400312867
219 Y>C No ClinGen
TOPMed
rs758197913
CA8631406
222 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA400312825
rs1190968672
224 E>D No ClinGen
gnomAD
CA400312831
rs1200479471
224 E>K No ClinGen
TOPMed
rs764622914
CA291054825
225 E>G No ClinGen
Ensembl
CA291054826
rs868776600
225 E>K No ClinGen
gnomAD
rs1598401354
CA400312817
226 E>K No ClinGen
Ensembl
rs759135604
CA8631405
227 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA291054823
rs866205509
228 K>E No ClinGen
Ensembl
rs1271285621
CA400312799
228 K>R No ClinGen
gnomAD
rs1223348241
CA400312781
230 E>D No ClinGen
TOPMed
gnomAD
CA400312778
rs1598401310
231 T>A No ClinGen
Ensembl
rs1567808466
CA400312748
235 I>V No ClinGen
Ensembl
rs1241024008
CA400312736
236 D>E No ClinGen
gnomAD
rs1176633176
CA400312738
236 D>G No ClinGen
TOPMed
rs1283801825
CA400312742
236 D>Y No ClinGen
gnomAD
CA400312731
rs1481579875
237 G>D No ClinGen
TOPMed
CA400312734
rs1317431256
237 G>S No ClinGen
TOPMed
gnomAD
CA291054818
rs955198177
240 S>A No ClinGen
TOPMed
rs1466420501
CA400312709
240 S>C No ClinGen
TOPMed
rs765216777
CA8631404
241 P>S No ClinGen
ExAC
gnomAD
CA8631403
VAR_035343
rs35288886
242 S>G No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs111771569
CA8631402
246 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1442103475
CA400312665
247 C>Y No ClinGen
TOPMed
CA400312660
rs1158464855
248 R>G No ClinGen
gnomAD
CA400312656
CA400312655
rs1358000603
248 R>S No ClinGen
gnomAD
CA8631400
rs760867806
248 R>T No ClinGen
ExAC
gnomAD
rs750553383
CA8631399
250 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA400312648
rs1296907727
250 T>P No ClinGen
gnomAD
rs767733529
CA8631398
253 P>R No ClinGen
ExAC
gnomAD
CA8631397
rs762127748
254 G>E No ClinGen
ExAC
gnomAD
CA8631396
rs774723073
255 S>N No ClinGen
ExAC
gnomAD
CA8631395
rs769061048
257 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA400312586
rs1318375593
260 E>K No ClinGen
TOPMed
rs776134630
CA8631393
261 P>L No ClinGen
ExAC
gnomAD
rs763341737
CA8631394
261 P>S No ClinGen
ExAC
gnomAD
rs770286423
CA8631391
267 E>G No ClinGen
ExAC
gnomAD
rs771871459
CA8631388
269 D>V No ClinGen
ExAC
gnomAD
CA400312511
rs1337949712
270 I>S No ClinGen
TOPMed
gnomAD
rs1337949712
CA400312510
270 I>T No ClinGen
TOPMed
gnomAD
CA8631386
rs747850299
271 Y>C No ClinGen
ExAC
gnomAD
CA400312481
rs1033101502
CA291054794
274 L>F No ClinGen
TOPMed
CA8631384
rs754886738
275 P>R No ClinGen
ExAC
gnomAD
rs1490853547
CA400312475
276 D>N No ClinGen
TOPMed
CA8631366
rs151249688
278 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8631367
rs151249688
278 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8631365
rs768514743
279 H>R No ClinGen
ExAC
gnomAD
CA8631362
rs573126940
285 E>D No ClinGen
1000Genomes
ExAC
gnomAD
rs574969815
CA291053575
286 S>G No ClinGen
gnomAD
rs781219641
CA8631360
289 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8631359
COSM561220
rs142272724
290 R>* lung Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8631358
rs751770631
COSM1722680
290 R>Q NS [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA8631335
rs765629624
293 V>A No ClinGen
ExAC
gnomAD
CA291053548
rs201999452
293 V>I No ClinGen
Ensembl
rs1392957226
CA400312099
294 D>G No ClinGen
gnomAD
CA400312093
rs1240174496
295 Y>H No ClinGen
gnomAD
rs973240616
CA291052200
296 A>D No ClinGen
TOPMed
rs1330795694
CA400312084
296 A>S No ClinGen
gnomAD
rs1301478111
CA400312077
297 S>T No ClinGen
gnomAD
rs1406846382
CA400312058
299 Y>* No ClinGen
TOPMed
gnomAD
CA291052194
rs962128143
302 L>P No ClinGen
TOPMed
CA8631332
rs555739301
304 D>H No ClinGen
1000Genomes
ExAC
gnomAD
rs1410029792
CA400312004
307 G>D No ClinGen
gnomAD
TCGA novel 308 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs909838772
CA291052188
311 D>E No ClinGen
Ensembl
CA8631330
rs536068830
311 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs774022799
CA8631329
313 L>P No ClinGen
ExAC
gnomAD
CA400311959
rs1426808016
314 S>A No ClinGen
gnomAD
CA400311956
rs1201053878
314 S>F No ClinGen
gnomAD
CA400311961
rs1426808016
314 S>T No ClinGen
gnomAD
rs1234259563
CA400311953
315 F>V No ClinGen
TOPMed
rs1276765734
CA400311943
316 Q>R No ClinGen
TOPMed
CA8631326
rs368166369
317 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs762638366
CA8631327
317 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA8631325
rs148912908
318 G>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs745681170
CA8631324
318 G>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs746994680
CA8631321
CA8631322
319 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA8631323
rs776507061
319 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1225640924
CA400311921
321 I>L No ClinGen
gnomAD
CA400311912
rs1346380610
322 R>C No ClinGen
gnomAD
CA8631319
rs146750859
322 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8631320
rs146750859
322 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400311866
rs1217685535
327 E>A No ClinGen
TOPMed
gnomAD
CA400311865
rs1217685535
327 E>G No ClinGen
TOPMed
gnomAD
CA400311857
rs1282267524
328 Y>C No ClinGen
gnomAD
CA400311861
rs1317251061
328 Y>D No ClinGen
TOPMed
gnomAD
rs1419759414
CA400311840
330 M>I No ClinGen
TOPMed
CA8631264
rs767395301
330 M>T No ClinGen
ExAC
gnomAD
rs761625794
CA8631263
334 W>G No ClinGen
ExAC
gnomAD
CA8631262
rs774415489
335 V>G No ClinGen
ExAC
gnomAD
rs1381147127
CA400311784
338 L>P No ClinGen
gnomAD
rs1287560564
CA400311779
339 N>T No ClinGen
gnomAD
CA400311769
rs1346698835
340 S>I No ClinGen
Ensembl
rs763142121
CA8631260
340 S>R No ClinGen
ExAC
gnomAD
rs143407064
CA8631256
342 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs143407064
CA8631257
342 V>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8631258
rs770175322
342 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs770175322
CA400311761
342 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1598351283
CA400311751
344 I>V No ClinGen
Ensembl
rs761632125
CA8631255
346 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA8631254
rs373548020
349 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 353 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA291047950
rs932820063
354 F>S No ClinGen
Ensembl
CA400311674
rs754416960
355 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA291047949
rs772095586
356 V>L No ClinGen
Ensembl
CA400311652
rs1188149160
358 E>D No ClinGen
gnomAD
rs867194496 360 R>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1486140937
CA400311643
360 R>R No ClinGen
gnomAD

No associated diseases with Q86WV1

3 regional properties for Q86WV1

Type Name Position InterPro Accession
domain SH3 domain 294 - 355 IPR001452
domain Pleckstrin homology domain 107 - 212 IPR001849
domain Src kinase-associated phosphoprotein 1, SH3 domain 298 - 350 IPR035765

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Nucleus
  • Cell membrane
  • Upon T-cell stimulation, translocates to lipid rafts at the cell membrane
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

8 GO annotations of cellular component

Name Definition
cell-cell junction A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
immunological synapse An area of close contact between a lymphocyte (T-, B-, or natural killer cell) and a target cell formed through the clustering of particular signaling and adhesion molecules and their associated membrane rafts on both the lymphocyte and the target cell and facilitating activation of the lymphocyte, transfer of membrane from the target cell to the lymphocyte, and in some situations killing of the target cell through release of secretory granules and/or death-pathway ligand-receptor interaction.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
plasma membrane raft A membrane raft that is part of the plasma membrane.
T cell receptor complex A protein complex that contains a disulfide-linked heterodimer of T cell receptor (TCR) chains, which are members of the immunoglobulin superfamily, and mediates antigen recognition, ultimately resulting in T cell activation. The TCR heterodimer is associated with the CD3 complex, which consists of the nonpolymorphic polypeptides gamma, delta, epsilon, zeta, and, in some cases, eta (an RNA splice variant of zeta) or Fc epsilon chains.

4 GO annotations of molecular function

Name Definition
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.
protein phosphatase binding Binding to a protein phosphatase.
SH2 domain binding Binding to a SH2 domain (Src homology 2) of a protein, a protein domain of about 100 amino-acid residues and belonging to the alpha + beta domain class.
SH3 domain binding Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins.

11 GO annotations of biological process

Name Definition
adaptive immune response An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).
positive regulation of adaptive immune response Any process that activates or increases the frequency, rate, or extent of an adaptive immune response.
positive regulation of cell-cell adhesion mediated by integrin Any process that activates or increases the frequency, rate, or extent of cell-cell adhesion mediated by integrin.
positive regulation of cell-matrix adhesion Any process that activates or increases the rate or extent of cell adhesion to an extracellular matrix.
positive regulation of DNA-templated transcription Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of heterotypic cell-cell adhesion Any process that activates or increases the frequency, rate, or extent of heterotypic cell-cell adhesion.
positive regulation of integrin activation Any process that activates or increases the frequency, rate, or extent of integrin activation.
positive regulation of leukocyte cell-cell adhesion Any process that activates or increases the frequency, rate or extent of leukocyte cell-cell adhesion.
positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
protein localization to plasma membrane A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane.
T cell receptor signaling pathway The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
O75563 SKAP2 Src kinase-associated phosphoprotein 2 Homo sapiens (Human) PR
Q6DII7 skap1 Src kinase-associated phosphoprotein 1 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
10 20 30 40 50 60
MQAAALPEEI RWLLEDAEEF LAEGLRNENL SAVARDHRDH ILRGFQQIKA RYYWDFQPQG
70 80 90 100 110 120
GDIGQDSSDD NHSGTLGLSL TSDAPFLSDY QDEGMEDIVK GAQELDNVIK QGYLEKKSKD
130 140 150 160 170 180
HSFFGSEWQK RWCVVSRGLF YYYANEKSKQ PKGTFLIKGY GVRMAPHLRR DSKKESCFEL
190 200 210 220 230 240
TSQDRRSYEF TATSPAEARD WVDQISFLLK DLSSLTIPYE EDEEEEEKEE TYDDIDGFDS
250 260 270 280 290 300
PSCGSQCRPT ILPGSVGIKE PTEEKEEEDI YEVLPDEEHD LEEDESGTRR KGVDYASYYQ
310 320 330 340 350
GLWDCHGDQP DELSFQRGDL IRILSKEYNM YGWWVGELNS LVGIVPKEYL TTAFEVEER