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

4 structures for P30411

Entry ID Method Resolution Chain Position Source
7F2O EM 290 A R 40-370 PDB
7F6H EM 290 A A 25-391 PDB
7F6I EM 280 A A 25-391 PDB
AF-P30411-F1 Predicted AlphaFoldDB

346 variants for P30411

Variant ID(s) Position Change Description Diseaes Association Provenance
rs979441683
CA266035957
2 F>I No ClinGen
TOPMed
gnomAD
TCGA novel 2 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA266035963
rs777673155
5 W>C No ClinGen
Ensembl
TCGA novel 5 W>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 6 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1210196872
CA390898795
7 I>L No ClinGen
TOPMed
CA390898809
rs1566695406
9 M>T No ClinGen
Ensembl
CA7334837
rs751935351
9 M>V No ClinGen
ExAC
gnomAD
CA390898822
rs924868565
COSM171141
11 L>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA266035978
rs924868565
11 L>V No ClinGen
TOPMed
gnomAD
VAR_003457
CA7334839
rs1046248
14 R>C No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSM1741704
rs200131401
CA7334841
14 R>H urinary_tract [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs200131401
CA7334840
14 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7334843
rs753954087
15 E>D No ClinGen
ExAC
gnomAD
rs201351531
CA7334842
15 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7334844
rs140696405
16 D>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs992787256
CA266036010
COSM1707856
16 D>N Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA7334846
rs377705294
18 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7334847
rs770712432
19 P>H No ClinGen
ExAC
gnomAD
CA7334848
rs200061371
21 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA390898880
rs532210447
22 A>P No ClinGen
gnomAD
CA266036046
rs532210447
22 A>T No ClinGen
gnomAD
CA390898889
rs1195038299
23 S>C No ClinGen
TOPMed
TCGA novel 23 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7334851
rs199499079
25 S>I No ClinGen
1000Genomes
ExAC
gnomAD
CA7334890
rs199739317
25 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA390898914
rs200693201
26 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA7334892
rs200693201
26 A>T Variant assessed as Somatic; 6.026e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765360779
CA7334896
27 D>E No ClinGen
ExAC
gnomAD
CA7334895
rs199704308
27 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA7334894
COSM959336
rs776833029
27 D>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1402372389
CA390898929
28 M>I No ClinGen
gnomAD
CA7334897
rs775702998
28 M>R No ClinGen
ExAC
TOPMed
gnomAD
rs775702998
CA390898928
28 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs762874297
CA7334898
29 L>F No ClinGen
ExAC
gnomAD
CA390898939
rs1374640374
30 N>D No ClinGen
gnomAD
rs750309210
CA7334900
33 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA7334901
rs755933062
34 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA390898978
rs1277230957
36 P>S No ClinGen
gnomAD
rs753563291
CA7334903
37 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA7334904
rs200814940
38 L>P No ClinGen
ExAC
gnomAD
rs757938037
CA7334907
40 G>E No ClinGen
ExAC
gnomAD
CA7334906
rs199956553
40 G>R No ClinGen
1000Genomes
ExAC
gnomAD
rs201987499
CA7334908
42 F>V No ClinGen
ExAC
gnomAD
CA7334910
rs557017882
43 A>S No ClinGen
1000Genomes
ExAC
gnomAD
rs200146501
CA266037789
43 A>V No ClinGen
TOPMed
gnomAD
CA7334913
rs746210702
45 S>R No ClinGen
ExAC
gnomAD
rs770056184
CA7334914
46 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA266037801
rs201100139
47 C>* No ClinGen
ExAC
TOPMed
gnomAD
CA390899048
rs201100139
47 C>W No ClinGen
ExAC
TOPMed
gnomAD
rs775517421
CA7334915
47 C>Y No ClinGen
ExAC
gnomAD
rs138633013
CA7334917
48 P>L No ClinGen
ESP
ExAC
gnomAD
CA266037808
rs562698090
49 Q>R No ClinGen
gnomAD
rs202026817
CA7334919
50 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390899066
rs1203280196
51 E>K No ClinGen
TOPMed
rs1240156584
CA390899071
51 E>V No ClinGen
gnomAD
rs1347730800
CA390899082
52 W>C No ClinGen
gnomAD
CA390899090
rs1595265981
54 G>S No ClinGen
Ensembl
rs1010944578
CA266037820
55 W>* No ClinGen
Ensembl
rs1595265991
CA390899118
58 T>P No ClinGen
Ensembl
rs759195610
CA7334922
61 P>L No ClinGen
ExAC
gnomAD
rs1195457784
CA390899139
61 P>S No ClinGen
gnomAD
rs1195457784
CA390899137
61 P>T No ClinGen
gnomAD
rs764968612
CA390899146
62 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs764968612
CA7334923
62 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA390899145
rs764968612
62 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA390899157
rs1252355336
COSM138947
64 L>F skin [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA390899156
rs1252355336
64 L>V No ClinGen
TOPMed
gnomAD
rs1230747543
CA390899167
65 W>C No ClinGen
TOPMed
rs777477855
CA7334926
65 W>S No ClinGen
ExAC
gnomAD
CA390899169
rs1178045383
66 V>M No ClinGen
gnomAD
CA390899178
rs1461241929
67 L>P No ClinGen
gnomAD
rs368495707
CA7334927
69 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368495707
CA266037874
69 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1324607649
CA390899195
70 L>P No ClinGen
gnomAD
CA390899208
rs1324159651
72 T>I No ClinGen
TOPMed
TCGA novel 74 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1439328562
CA390899215
74 E>Q No ClinGen
gnomAD
rs757903530
CA7334928
77 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs201041317
CA7334929
77 F>S No ClinGen
ExAC
gnomAD
rs746256717
CA7334930
78 V>F No ClinGen
ExAC
gnomAD
TCGA novel 79 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs202213026
CA266037901
80 S>G No ClinGen
Ensembl
CA7334934
rs200683377
COSM266091
81 V>I Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1190697892
CA390899294
85 H>Q No ClinGen
gnomAD
rs1427735913
CA390899289
85 H>Y No ClinGen
gnomAD
CA390899301
rs1566696864
86 K>N No ClinGen
Ensembl
CA390899306
rs1239669339
87 S>I No ClinGen
TOPMed
CA390899308
rs1239669339
87 S>N No ClinGen
TOPMed
CA390899322
rs1465789260
89 C>Y No ClinGen
gnomAD
CA7334937
rs201448595
90 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA7334936
rs201448595
90 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA390899330
rs201448595
90 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA390899354
rs1566696880
94 I>N No ClinGen
Ensembl
CA7334943
rs763831238
97 G>R No ClinGen
ExAC
gnomAD
CA390899382
rs1342685085
98 N>K No ClinGen
TOPMed
gnomAD
rs1595266110
CA390899379
98 N>T No ClinGen
Ensembl
rs751115238
CA7334944
100 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA7334946
rs781733145
101 A>T Variant assessed as Somatic; 5.539e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1265982604
CA390899429
106 L>R No ClinGen
gnomAD
CA390899426
rs1301390843
106 L>V No ClinGen
TOPMed
CA7334948
rs756610849
109 G>E No ClinGen
ExAC
gnomAD
rs1415161438
CA390899459
111 P>L No ClinGen
gnomAD
rs1186789152
CA390899456
111 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA390899463
rs1320975078
112 F>S No ClinGen
TOPMed
CA390899478
rs1425065664
114 A>T No ClinGen
gnomAD
rs779049358
CA7334952
115 I>T No ClinGen
ExAC
gnomAD
rs748250276
CA7334953
116 T>I No ClinGen
ExAC
gnomAD
rs772009524
CA7334954
117 I>T No ClinGen
ExAC
gnomAD
CA266037954
rs867353437
120 N>D No ClinGen
gnomAD
CA7334955
rs773315270
120 N>S No ClinGen
ExAC
gnomAD
CA390899515
rs867353437
120 N>Y No ClinGen
gnomAD
rs1158322515
CA390899533
122 D>E No ClinGen
TOPMed
CA7334957
rs143890409
122 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7334958
rs775489416
123 W>R No ClinGen
ExAC
gnomAD
CA266037971
rs898472314
125 F>S No ClinGen
TOPMed
rs762765957
CA7334959
126 G>R No ClinGen
ExAC
gnomAD
CA390899570
rs1287992867
128 T>A No ClinGen
gnomAD
rs183386880
CA7334960
COSM959340
128 T>M large_intestine endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs563494871
CA266037984
131 R>C No ClinGen
gnomAD
rs766976697
CA7334963
131 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1678240
CA266037988
rs766976697
131 R>L lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1008727566
CA266037992
132 V>E No ClinGen
TOPMed
CA390899591
rs201909453
132 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA7334964
rs201909453
132 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs368510407
CA7334965
135 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390899636
rs1382656122
139 M>L No ClinGen
gnomAD
CA390899635
rs1382656122
139 M>V No ClinGen
gnomAD
CA7334966
rs766805624
140 N>H No ClinGen
ExAC
gnomAD
TCGA novel 140 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7334968
rs755289030
141 L>P No ClinGen
ExAC
gnomAD
CA266038019
rs547136020
145 I>L No ClinGen
Ensembl
CA266038022
rs547136020
145 I>V No ClinGen
Ensembl
rs781770613
CA266038033
147 F>Y No ClinGen
Ensembl
CA7334972
rs777777245
149 M>T No ClinGen
ExAC
gnomAD
CA266038039
rs200839127
149 M>V No ClinGen
Ensembl
CA266038043
rs201523214
152 S>G No ClinGen
gnomAD
CA390899726
rs1313650979
152 S>R No ClinGen
gnomAD
CA7334974
rs769618803
153 I>T No ClinGen
ExAC
gnomAD
rs749114824
CA7334976
154 D>E No ClinGen
ExAC
gnomAD
CA266038045
rs777611379
154 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA390899742
rs1240626421
155 R>C No ClinGen
TOPMed
gnomAD
rs768529413
CA7334977
158 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA390899769
rs1173476065
160 V>L No ClinGen
gnomAD
rs1566697002
CA390899783
162 T>P No ClinGen
Ensembl
CA266038053
rs200137610
165 M>R No ClinGen
Ensembl
rs774254602
CA390899818
167 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA266038055
rs201092575
167 R>Q No ClinGen
gnomAD
rs774254602
CA7334978
167 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs139076079
CA7334979
CA266038058
168 M>I No ClinGen
ESP
ExAC
gnomAD
rs964993900
CA266038056
168 M>R No ClinGen
TOPMed
rs1464178755
COSM959346
CA390899828
169 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA7334980
rs141412276
169 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs202134620
CA7334984
170 G>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1272946587
CA390899833
170 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs202134620
CA390899832
170 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs202134620
CA7334983
170 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7334988
rs201329154
171 V>A No ClinGen
ExAC
gnomAD
rs139401938
CA7334987
171 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs140161378
CA7334990
172 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7334991
COSM1749054
rs201474162
172 R>H urinary_tract [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA390899843
rs201474162
172 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1258138680
CA390899850
173 W>* No ClinGen
gnomAD
rs977838309
CA266038075
174 A>V No ClinGen
TOPMed
CA390899868
rs1193564678
176 L>F No ClinGen
TOPMed
gnomAD
rs199642464
CA266038078
177 Y>* No ClinGen
gnomAD
CA390899873
rs1595266297
177 Y>H No ClinGen
Ensembl
CA390899880
rs1252323377
178 S>G No ClinGen
gnomAD
rs1479223093
CA390899884
178 S>I No ClinGen
gnomAD
CA7334992
rs780168746
182 W>C No ClinGen
ExAC
gnomAD
rs1210181426
CA390899920
183 G>V No ClinGen
TOPMed
rs939563124
CA390899924
184 C>S No ClinGen
TOPMed
gnomAD
rs939563124
CA266038092
184 C>Y No ClinGen
TOPMed
gnomAD
rs749275929
CA7334993
185 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1436987223
CA390899967
191 P>L No ClinGen
gnomAD
CA390899971
rs1269345234
192 M>V No ClinGen
gnomAD
rs546829915
CA7334996
194 V>M No ClinGen
1000Genomes
ExAC
gnomAD
rs747911761
CA390899995
195 F>L No ClinGen
ExAC
TOPMed
gnomAD
COSM69815
CA266038119
rs201760673
196 R>Q ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA266038116
rs962382149
196 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 198 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA390900020
COSM699705
rs199831344
199 K>N lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
TCGA novel 200 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7334999
rs772874206
203 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA390900070
rs1311014558
206 H>R No ClinGen
TOPMed
rs760136048
CA7335000
206 H>Y No ClinGen
ExAC
gnomAD
rs1196125459
CA390900075
207 N>D No ClinGen
gnomAD
CA7335002
rs200470118
207 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA390900074
rs1196125459
207 N>Y No ClinGen
gnomAD
CA7335003
rs139203012
208 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA390900082
rs139203012
208 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7335005
rs200062156
209 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7335004
rs200062156
209 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs183204823
CA7335006
210 A>T Variant assessed as Somatic; 4.904e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA266038161
rs199803197
212 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs751762638
CA390900119
214 S>I No ClinGen
ExAC
gnomAD
CA7335008
rs751762638
214 S>N No ClinGen
ExAC
gnomAD
rs757519944
CA7335009
215 Y>C No ClinGen
ExAC
gnomAD
CA7335010
rs781468888
218 L>V No ClinGen
ExAC
gnomAD
CA390900156
rs1416268650
220 W>* No ClinGen
TOPMed
CA390900153
rs1354409040
220 W>R No ClinGen
gnomAD
rs750517955
CA7335012
221 E>D No ClinGen
ExAC
gnomAD
CA266038191
rs1019206771
222 V>A No ClinGen
TOPMed
CA7335013
rs778853908
226 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA7335014
rs188092400
230 V>I No ClinGen
1000Genomes
ExAC
gnomAD
rs192953717
CA7335016
231 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs202072945
CA7335018
238 S>N No ClinGen
ExAC
gnomAD
rs1185595154
CA390900293
241 T>I No ClinGen
TOPMed
gnomAD
CA390900291
rs1185595154
241 T>N No ClinGen
TOPMed
gnomAD
CA390900315
COSM3690268
rs1239271323
244 T>M Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA390900314
rs1239271323
244 T>R No ClinGen
TOPMed
gnomAD
rs1336713927
CA390900321
245 M>I No ClinGen
TOPMed
rs772538359
CA7335019
245 M>T No ClinGen
ExAC
gnomAD
CA390900326
rs1291250850
246 Q>K No ClinGen
TOPMed
CA7335020
rs758983716
247 I>S No ClinGen
ExAC
gnomAD
CA266038232
rs200532207
248 M>I No ClinGen
Ensembl
CA390900355
rs1227299587
250 V>M No ClinGen
gnomAD
rs776011947
CA7335022
252 R>Q No ClinGen
ExAC
gnomAD
CA7335021
rs770296029
252 R>W No ClinGen
ExAC
gnomAD
TCGA novel 255 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs144066261
CA7335024
255 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1308513453
CA390900388
255 E>V No ClinGen
TOPMed
CA390900406
rs1335720129
257 Q>H No ClinGen
gnomAD
CA390900438
rs1340560260
261 E>D No ClinGen
gnomAD
rs774556385
CA7335025
262 I>F No ClinGen
ExAC
gnomAD
rs1279563252
CA390900443
262 I>N No ClinGen
gnomAD
CA7335026
rs146453096
COSM335024
264 T>I lung [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
TCGA novel 265 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1259795095
CA390900464
265 E>V No ClinGen
TOPMed
gnomAD
TCGA novel 266 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs199749772
CA7335029
COSM1240890
269 T>M oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs142053211
CA7335028
269 T>S No ClinGen
ESP
ExAC
TOPMed
rs765119910
CA7335030
270 V>M No ClinGen
ExAC
gnomAD
TCGA novel 271 L>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752721113
CA7335031
271 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs200761934
CA266038291
281 I>F No ClinGen
gnomAD
CA390900554
rs200761934
281 I>V No ClinGen
gnomAD
CA390900586
rs1195696280
285 P>L No ClinGen
TOPMed
CA266038298
rs544336047
288 I>M No ClinGen
1000Genomes
rs146985256
CA7335035
288 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390900616
rs1595266573
290 T>P No ClinGen
Ensembl
rs200643742
CA7335036
291 F>L No ClinGen
ESP
ExAC
gnomAD
rs1043378552
CA266038313
293 D>G No ClinGen
Ensembl
CA7335037
rs745400008
294 T>A No ClinGen
ExAC
gnomAD
CA7335038
COSM198832
rs201732624
294 T>M large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA266038324
rs1001773730
296 H>P No ClinGen
Ensembl
CA7335040
rs749848603
297 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1310557751
CA390900661
297 R>H No ClinGen
TOPMed
gnomAD
rs1310557751
CA390900659
297 R>L No ClinGen
TOPMed
gnomAD
rs373071105
CA266038330
299 G>D No ClinGen
ESP
TOPMed
gnomAD
CA7335042
rs769027698
299 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA7335041
rs769027698
299 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 301 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1256223562
CA390900702
304 C>F No ClinGen
gnomAD
rs771091903
CA7335043
304 C>G No ClinGen
ExAC
gnomAD
CA7335044
rs200077235
306 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7335046
rs138076769
307 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM3377485
rs766530842
CA7335047
308 R>C Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs766530842
CA390900728
308 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs201166893
CA7335048
308 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA390900729
COSM1371887
rs201166893
308 R>P large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA390900733
rs1477286619
309 I>V No ClinGen
gnomAD
CA7335050
rs763874568
311 D>N Variant assessed as Somatic; 9.256e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs763874568
CA7335051
311 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA390900756
rs1192713371
312 V>G No ClinGen
TOPMed
rs1252615530
CA390900751
312 V>I No ClinGen
TOPMed
rs745556740
CA266038380
316 I>S No ClinGen
ExAC
TOPMed
gnomAD
rs745556740
CA7335055
316 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA7335054
rs780850861
316 I>V No ClinGen
ExAC
gnomAD
rs146650268
CA266038397
317 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs146650268
CA7335058
317 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1022206251
CA266038410
319 F>S No ClinGen
TOPMed
rs748555729
CA7335062
320 M>K No ClinGen
ExAC
TOPMed
gnomAD
rs748555729
CA7335061
320 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs1312528542
CA390900800
320 M>V No ClinGen
TOPMed
gnomAD
rs761018120
CA7335064
326 C>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 328 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7335067
rs776780847
329 P>R No ClinGen
ExAC
gnomAD
rs1258882849
CA390900867
329 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1376663729
CA390900874
330 L>R No ClinGen
TOPMed
rs1425275963
CA390900885
332 Y>C No ClinGen
gnomAD
CA390900882
rs1314751517
332 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs201791629
CA7335069
333 V>M No ClinGen
ExAC
gnomAD
rs149359477
CA7335073
335 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA390900913
rs1366590295
337 K>E No ClinGen
gnomAD
rs144659195
CA7335074
337 K>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7335075
rs200627214
338 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA390900920
rs200627214
338 R>G No ClinGen
ExAC
TOPMed
gnomAD
COSM959348
CA7335076
rs148172749
338 R>H endometrium [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA266038506
rs988013396
340 R>* No ClinGen
TOPMed
gnomAD
rs201521050
CA7335078
340 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA266038510
rs199686931
341 K>R No ClinGen
TOPMed
CA266038512
rs200826300
342 K>N No ClinGen
Ensembl
CA390900986
rs1265886726
343 S>C No ClinGen
gnomAD
CA390900978
rs1363659698
343 S>P No ClinGen
gnomAD
CA390901000
rs1214117912
COSM1371888
344 W>C large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
CA7335079
rs748715230
344 W>R No ClinGen
ExAC
gnomAD
CA266038517
rs201675002
346 V>L No ClinGen
Ensembl
rs201675002
CA266038519
346 V>M No ClinGen
Ensembl
CA7335081
rs146150661
349 G>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 349 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs141974118
CA7335080
349 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs146150661
CA390901067
349 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778592206
CA7335083
350 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA390901072
rs747273570
350 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs747273570
CA7335082
350 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs200182006
CA266038529
351 C>R No ClinGen
Ensembl
VAR_012284
rs2227279
CA7335084
RCV000970276
354 G>E No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1424976476
CA390901125
354 G>R No ClinGen
gnomAD
CA390901141
rs1419536397
355 G>A No ClinGen
TOPMed
gnomAD
CA390901139
rs1419536397
355 G>D No ClinGen
TOPMed
gnomAD
CA266038532
rs374332188
355 G>R No ClinGen
ESP
TOPMed
CA390901135
rs374332188
355 G>S No ClinGen
ESP
TOPMed
CA390901201
rs1165932459
360 P>A No ClinGen
TOPMed
rs200078302
CA7335087
360 P>L No ClinGen
ESP
ExAC
gnomAD
CA266038539
rs1056000198
363 M>T No ClinGen
Ensembl
rs1474991980
CA390901238
363 M>V No ClinGen
TOPMed
COSM959350
rs930223969
CA266038542
364 E>D endometrium [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
TCGA novel 368 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA390901309
rs1302420548
368 G>R No ClinGen
gnomAD
rs201021538
CA7335088
368 G>V No ClinGen
ExAC
gnomAD
rs896082320
CA266038546
369 T>I No ClinGen
Ensembl
CA266038548
rs983008064
370 L>P No ClinGen
TOPMed
gnomAD
CA7335090
rs201864766
371 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA7335092
rs147570529
371 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201864766
CA7335091
371 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs200843057
CA7335093
372 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs778625682
CA7335095
374 I>N No ClinGen
ExAC
gnomAD
CA390901356
rs778625682
374 I>T No ClinGen
ExAC
gnomAD
rs1595266790
CA390901349
374 I>V No ClinGen
Ensembl
CA266038563
rs201367171
376 V>A No ClinGen
TOPMed
CA7335096
rs141958164
376 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 376 V>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7335097
rs751331696
378 R>C No ClinGen
ExAC
gnomAD
CA7335098
rs778370159
COSM3386768
378 R>H pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
COSM433560
rs778370159
CA266038568
378 R>L Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs747426571
CA7335099
383 L>Q No ClinGen
ExAC
gnomAD
rs199655832
COSM1678241
CA7335100
385 D>H lung [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA390901549
rs1444534694
COSM95579
386 W>* breast [Cosmic] No ClinGen
cosmic curated
TOPMed
CA7335101
rs200260828
386 W>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390901540
rs1401578997
386 W>R No ClinGen
gnomAD
rs1357593533
CA390901565
387 A>V No ClinGen
gnomAD
CA390901592
rs1175807356
389 S>N No ClinGen
gnomAD
rs746121575
CA7335102
390 R>K No ClinGen
ExAC
CA266038587
rs769987281
391 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA266038590
rs796213533
392 Q>G No ClinGen
Ensembl

No associated diseases with P30411

3 regional properties for P30411

Type Name Position InterPro Accession
domain Zinc finger, RING-type 546 - 586 IPR001841
domain Zinc finger, RING-CH-type 546 - 586 IPR011016
domain TRC8-like, N-terminal domain 20 - 516 IPR025754

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
endosome A vacuole to which materials ingested by endocytosis are delivered.
Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
integral component of plasma membrane The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
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.

6 GO annotations of molecular function

Name Definition
bradykinin receptor activity Combining with bradykinin to initiate a change in cell activity.
G protein-coupled receptor activity Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex.
phosphatidylinositol phospholipase C activity Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1,2-diacylglycerol + 1D-myo-inositol 1,4,5-trisphosphate + H(+).
protease binding Binding to a protease or a peptidase.
protein heterodimerization activity Binding to a nonidentical protein to form a heterodimer.
type 1 angiotensin receptor binding Binding to a type 1 angiotensin receptor.

16 GO annotations of biological process

Name Definition
arachidonic acid secretion The controlled release of arachidonic acid from a cell or a tissue.
blood circulation The flow of blood through the body of an animal, enabling the transport of nutrients to the tissues and the removal of waste products.
cell surface receptor signaling pathway The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription.
G protein-coupled receptor signaling pathway The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane.
inflammatory response The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to the detection of osmotic stress, and ends when the execution phase of apoptosis is triggered.
negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator Any process that stops, prevents or reduces the frequency, rate or extent of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator.
negative regulation of peptidyl-serine phosphorylation Any process that stops, prevents, or reduces the frequency, rate or extent of the phosphorylation of peptidyl-serine.
positive regulation of cytosolic calcium ion concentration Any process that increases the concentration of calcium ions in the cytosol.
regulation of vascular permeability Any process that modulates the extent to which blood vessels can be pervaded by fluid.
regulation of vasoconstriction Any process that modulates the frequency, rate or extent of reductions in the diameter of blood vessels.
response to salt stress Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating an increase or decrease in the concentration of salt (particularly but not exclusively sodium and chloride ions) in the environment.
smooth muscle contraction A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length.
transmembrane receptor protein tyrosine kinase signaling pathway The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription.
vasoconstriction A decrease in the diameter of blood vessels, especially arteries, due to constriction of smooth muscle cells that line the vessels, and usually causing an increase in blood pressure.
vasodilation An increase in the internal diameter of blood vessels, especially arterioles or capillaries, due to relaxation of smooth muscle cells that line the vessels, and usually resulting in a decrease in blood pressure.

4 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q13585 GPR50 Melatonin-related receptor Homo sapiens (Human) PR
P30556 AGTR1 Type-1 angiotensin II receptor Homo sapiens (Human) PR
P35414 APLNR Apelin receptor Homo sapiens (Human) PR
P25023 Bdkrb2 B2 bradykinin receptor Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MFSPWKISMF LSVREDSVPT TASFSADMLN VTLQGPTLNG TFAQSKCPQV EWLGWLNTIQ
70 80 90 100 110 120
PPFLWVLFVL ATLENIFVLS VFCLHKSSCT VAEIYLGNLA AADLILACGL PFWAITISNN
130 140 150 160 170 180
FDWLFGETLC RVVNAIISMN LYSSICFLML VSIDRYLALV KTMSMGRMRG VRWAKLYSLV
190 200 210 220 230 240
IWGCTLLLSS PMLVFRTMKE YSDEGHNVTA CVISYPSLIW EVFTNMLLNV VGFLLPLSVI
250 260 270 280 290 300
TFCTMQIMQV LRNNEMQKFK EIQTERRATV LVLVVLLLFI ICWLPFQIST FLDTLHRLGI
310 320 330 340 350 360
LSSCQDERII DVITQIASFM AYSNSCLNPL VYVIVGKRFR KKSWEVYQGV CQKGGCRSEP
370 380 390
IQMENSMGTL RTSISVERQI HKLQDWAGSR Q