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

23 structures for Q8IVV7

Entry ID Method Resolution Chain Position Source
6CCR X-ray 160 A A 116-300 PDB
6CCT X-ray 240 A A 124-289 PDB
6CCU X-ray 175 A A 116-300 PDB
6CD8 X-ray 160 A A/B 124-289 PDB
6CD9 X-ray 155 A A 124-289 PDB
6CDC X-ray 175 A A 124-289 PDB
6CDG X-ray 160 A A 124-289 PDB
6WZX X-ray 175 A A/B 124-289 PDB
6WZZ X-ray 160 A A 124-289 PDB
7NSC EM 330 A D 1-300 PDB
7Q4Y X-ray 308 A A/B 100-300 PDB
7Q50 X-ray 316 A A 121-290 PDB
7SLZ X-ray 197 A A 124-289 PDB
7U3E X-ray 185 A A/B 124-289 PDB
7U3F X-ray 230 A A 124-289 PDB
7U3G X-ray 224 A A 124-289 PDB
7U3H X-ray 180 A A 124-289 PDB
7U3I X-ray 199 A A/B 124-289 PDB
7U3J X-ray 164 A A 124-289 PDB
7U3K X-ray 220 A A 124-289 PDB
7U3L X-ray 229 A A 124-289 PDB
8V1P X-ray 221 A A 124-289 PDB
AF-Q8IVV7-F1 Predicted AlphaFoldDB

186 variants for Q8IVV7

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1235158213
CA398580991
3 A>V No ClinGen
gnomAD
rs889280811
CA288419051
4 R>Q No ClinGen
Ensembl
CA288419071
rs1032543574
8 G>R No ClinGen
Ensembl
rs956950340
CA288419078
10 G>R No ClinGen
gnomAD
rs553766703
CA8422050
11 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs186674984
CA8422051
18 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA398581126
rs186674984
18 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1487775591
CA398581133
19 C>R No ClinGen
gnomAD
CA398581167
rs988567617
22 V>F No ClinGen
TOPMed
rs988567617
CA288419092
22 V>I No ClinGen
TOPMed
CA398581181
rs1248583561
23 P>L No ClinGen
TOPMed
rs1451181632
CA398581178
23 P>S No ClinGen
TOPMed
CA398581184
rs1182695949
24 G>R No ClinGen
TOPMed
rs1459836808
CA398581193
25 S>P No ClinGen
TOPMed
rs1209727327
CA398581208
26 R>L No ClinGen
TOPMed
gnomAD
rs1209727327
CA398581209
26 R>P No ClinGen
TOPMed
gnomAD
rs369896915
CA8422052
30 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA398581241
rs369896915
30 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA398581254
rs1187074288
31 R>C No ClinGen
gnomAD
CA288419108
rs971226127
31 R>P No ClinGen
TOPMed
gnomAD
CA398581256
rs1187074288
31 R>S No ClinGen
gnomAD
rs1344870465
CA398581290
34 R>L No ClinGen
TOPMed
CA288419134
rs927153372
35 R>G No ClinGen
TOPMed
gnomAD
rs937141107
CA288419138
35 R>K No ClinGen
Ensembl
CA398581301
rs1452325956
36 Q>* No ClinGen
TOPMed
rs984736907
CA288419148
37 R>P No ClinGen
TOPMed
rs984736907
CA398581317
37 R>Q No ClinGen
TOPMed
CA288419153
rs909144033
38 A>E No ClinGen
TOPMed
gnomAD
rs1348157956
CA398581341
40 G>D No ClinGen
gnomAD
rs751616570
CA8422053
40 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1012350685
CA288419185
43 S>P No ClinGen
TOPMed
gnomAD
rs1457488664
CA398581378
44 R>P No ClinGen
TOPMed
gnomAD
CA288419189
rs1049247858
46 H>P No ClinGen
TOPMed
gnomAD
rs922879032
CA288419197
46 H>Q No ClinGen
TOPMed
rs1388287942
CA398581411
48 A>P No ClinGen
TOPMed
gnomAD
rs531574702
CA288419223
49 R>L No ClinGen
1000Genomes
TOPMed
gnomAD
rs531574702
CA288419212
49 R>P No ClinGen
1000Genomes
TOPMed
gnomAD
CA398581427
rs1245863567
50 A>T No ClinGen
TOPMed
rs1409625422
CA398581440
51 R>L No ClinGen
TOPMed
gnomAD
CA398581441
rs1409625422
51 R>P No ClinGen
TOPMed
gnomAD
rs1306433609
CA398581457
53 G>C No ClinGen
TOPMed
rs1597685500
CA398581470
54 L>P No ClinGen
Ensembl
CA398581480
rs1597685517
55 S>F No ClinGen
Ensembl
CA398581485
rs1318358699
56 L>F No ClinGen
TOPMed
gnomAD
rs1597685531
CA398581488
56 L>P No ClinGen
Ensembl
rs1567582590
CA398581516
59 T>I No ClinGen
Ensembl
CA398581511
rs1445183315
59 T>P No ClinGen
TOPMed
gnomAD
rs1183862074
CA398581520
60 L>F No ClinGen
TOPMed
CA398581523
rs1483210141
60 L>H No ClinGen
TOPMed
CA398581524
rs1483210141
60 L>P No ClinGen
TOPMed
rs1267548943
CA398581557
63 S>P No ClinGen
TOPMed
rs1038896729
CA288419242
64 R>C No ClinGen
TOPMed
gnomAD
rs1319357393
CA398581574
64 R>H No ClinGen
gnomAD
TCGA novel 64 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs894559468
CA288419252
65 A>E No ClinGen
TOPMed
CA398581579
rs1243455060
65 A>T No ClinGen
gnomAD
rs1286897078
CA398581602
66 A>V No ClinGen
TOPMed
rs564429104
CA288419258
67 A>V No ClinGen
1000Genomes
gnomAD
rs535142636
CA288419275
69 V>A No ClinGen
TOPMed
gnomAD
CA398581637
rs747919270
69 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs747919270
CA8422057
69 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1411914709
CA398581668
71 L>F No ClinGen
gnomAD
rs533427067
CA8422058
72 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8422059
rs546695787
73 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA398581707
rs1597685694
73 L>P No ClinGen
Ensembl
CA8422060
rs748773460
74 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA8422062
rs775970305
75 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA288419298
rs901476160
75 P>S No ClinGen
TOPMed
gnomAD
CA398581748
rs1290214061
76 A>S No ClinGen
gnomAD
CA398581755
rs1376528231
76 A>V No ClinGen
gnomAD
CA288419305
rs1005076763
77 L>M No ClinGen
Ensembl
rs747481250
CA8422063
77 L>P No ClinGen
ExAC
gnomAD
CA8422064
rs769053973
78 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA288419320
rs933099340
80 G>V No ClinGen
Ensembl
rs1208144679
CA398581818
81 D>H No ClinGen
TOPMed
gnomAD
CA8422066
rs762112011
81 D>V No ClinGen
ExAC
gnomAD
rs1208144679
CA398581816
81 D>Y No ClinGen
TOPMed
gnomAD
rs1330174550
CA398581844
82 P>L No ClinGen
TOPMed
gnomAD
CA398581889
rs1266623731
85 P>T No ClinGen
TOPMed
TCGA novel 86 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8422068
rs773630948
87 R>H No ClinGen
ExAC
gnomAD
rs1330024154
CA398581947
89 E>K No ClinGen
TOPMed
CA398582000
rs1262781665
91 P>L No ClinGen
TOPMed
rs1258397473
CA398582032
93 P>L No ClinGen
gnomAD
rs751607901
CA398582048
95 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs751607901
COSM3402642
CA8422071
95 G>S Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1411171337
CA398582066
96 A>S No ClinGen
gnomAD
rs759471091
CA288419381
98 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs759471091
CA8422074
98 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1161105911
CA398582109
99 A>V No ClinGen
gnomAD
rs1357059384
CA398582120
101 A>T No ClinGen
gnomAD
rs752508173
CA8422077
103 S>L No ClinGen
ExAC
gnomAD
CA398582166
rs777389039
105 I>M No ClinGen
ExAC
TOPMed
CA398582160
rs1356760005
105 I>V No ClinGen
gnomAD
rs1425240402
CA398582186
108 P>S No ClinGen
TOPMed
CA398582206
rs1288200102
110 I>V No ClinGen
TOPMed
gnomAD
rs1010568648
CA288419416
111 N>S No ClinGen
TOPMed
CA8422081
rs756907498
113 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs1277004671
CA398582251
113 Q>R No ClinGen
gnomAD
rs1311792554
CA398582277
115 P>L No ClinGen
gnomAD
rs1482083189
CA398582373
124 S>G No ClinGen
gnomAD
rs377621102
CA398582386
125 G>C No ClinGen
ESP
TOPMed
gnomAD
rs377621102
CA288419450
125 G>S No ClinGen
ESP
TOPMed
gnomAD
CA288419460
rs1032447528
126 S>C No ClinGen
Ensembl
rs781586887
CA8422085
129 R>H No ClinGen
ExAC
gnomAD
CA8422086
rs748535840
131 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA398582456
rs1432417586
131 H>Y No ClinGen
TOPMed
gnomAD
TCGA novel 134 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs975539508
CA288419477
144 V>G No ClinGen
TOPMed
CA398583085
rs764917589
147 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8422119
rs761634608
147 H>R No ClinGen
ExAC
gnomAD
CA398583091
rs1389150572
148 V>A No ClinGen
TOPMed
rs750112471
CA8422121
COSM976179
148 V>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs758076439
CA8422122
149 D>N No ClinGen
ExAC
gnomAD
rs765753088
CA8422124
150 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA8422123
rs765753088
150 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA398583121
rs1406510354
151 G>E No ClinGen
TOPMed
gnomAD
rs1406510354
CA398583124
151 G>V No ClinGen
TOPMed
gnomAD
CA288421270
rs112996306
152 N>S No ClinGen
Ensembl
CA398583216
rs1157075473
160 K>N No ClinGen
TOPMed
CA398583245
rs1321386564
163 G>D No ClinGen
gnomAD
rs530802625
CA8422149
167 E>A No ClinGen
1000Genomes
ExAC
gnomAD
rs1485680786
CA398572682
169 P>R No ClinGen
gnomAD
rs1250231709
CA398572699
171 L>F No ClinGen
gnomAD
rs1264041250
CA398572727
173 T>I No ClinGen
TOPMed
CA398572758
rs758509286
176 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA8422152
rs758509286
176 E>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 177 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398572793
rs1477023288
179 I>K No ClinGen
gnomAD
rs1192460626
CA398572803
180 I>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA8422155
rs768778982
181 S>G No ClinGen
ExAC
gnomAD
CA398572812
rs144872624
181 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398572816
rs1166253296
181 S>R No ClinGen
gnomAD
CA8422156
rs144872624
181 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398572828
rs1215025561
182 K>N No ClinGen
TOPMed
TCGA novel 183 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA288375951
rs146677351
184 H>P No ClinGen
Ensembl
TCGA novel 184 H>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8422158
rs769796611
185 P>R No ClinGen
ExAC
gnomAD
TCGA novel 187 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 189 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs138700962
CA8422159
189 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1454415687
CA398572977
195 E>D No ClinGen
TOPMed
rs1383045516
CA398572999
197 V>D No ClinGen
TOPMed
rs762847388
CA8422160
199 R>Q No ClinGen
ExAC
gnomAD
rs1409183480
CA398573029
199 R>W No ClinGen
gnomAD
CA398576420
rs1408493697
207 A>S No ClinGen
gnomAD
TCGA novel 209 Y>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1374432386
CA398576465
210 Q>E No ClinGen
gnomAD
CA288378314
rs1015548587
210 Q>R No ClinGen
Ensembl
rs1225837408
COSM976180
CA398576492
211 Y>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA398576508
rs1311889156
212 A>T No ClinGen
gnomAD
CA398576514
rs1235084408
212 A>V No ClinGen
gnomAD
CA288378317
rs866971433
214 S>L No ClinGen
Ensembl
CA8422203
rs768276699
217 S>L No ClinGen
ExAC
gnomAD
CA398576622
rs1232249563
219 D>G No ClinGen
gnomAD
CA398576643
rs1567588708
220 F>L No ClinGen
Ensembl
rs763403472
CA8422205
223 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA288378330
rs961266678
224 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1312815100
CA398576721
225 L>V No ClinGen
TOPMed
CA8422206
rs766905777
226 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA8422207
rs141270542
227 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA288378337
rs560517467
229 D>N No ClinGen
Ensembl
rs200321621
CA8422209
231 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200321621
CA8422210
231 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1567589413
CA398577520
243 D>G No ClinGen
Ensembl
TCGA novel 252 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398577602
rs1363379650
253 S>A No ClinGen
gnomAD
TCGA novel 254 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775732469
CA8422228
261 C>S No ClinGen
ExAC
gnomAD
CA8422229
rs760900535
262 F>V No ClinGen
ExAC
TOPMed
gnomAD
CA398577704
rs1471141922
266 A>P No ClinGen
TOPMed
CA398577734
rs1216203904
269 I>V No ClinGen
gnomAD
rs764253071
COSM3378092
CA8422230
275 H>R pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1021022672
CA288380082
278 S>L No ClinGen
Ensembl
CA8422231
rs753921949
280 W>R No ClinGen
ExAC
gnomAD
CA8422257
rs754791891
285 N>I No ClinGen
ExAC
gnomAD
CA8422258
rs754791891
285 N>S No ClinGen
ExAC
gnomAD
rs150762880
CA8422256
285 N>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8422259
rs752280108
287 T>A No ClinGen
ExAC
gnomAD
CA398578129
rs752280108
287 T>S No ClinGen
ExAC
gnomAD
CA398578149
rs1365431309
289 V>I No ClinGen
TOPMed
CA8422260
rs755777454
290 P>S No ClinGen
ExAC
gnomAD
rs201429044
CA288381859
291 E>G No ClinGen
Ensembl
rs1314671213
CA398578188
294 A>V No ClinGen
TOPMed
gnomAD
rs1333710659
CA398578191
295 P>S No ClinGen
gnomAD

No associated diseases with Q8IVV7

3 regional properties for Q8IVV7

Type Name Position InterPro Accession
domain TGF-beta, propeptide 22 - 227 IPR001111
domain Transforming growth factor-beta, C-terminal 299 - 414 IPR001839
conserved_site Transforming growth factor beta, conserved site 335 - 350 IPR017948

Functions

Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

1 GO annotations of cellular component

Name Definition
ubiquitin ligase complex A protein complex that includes a ubiquitin-protein ligase and enables ubiquitin protein ligase activity. The complex also contains other proteins that may confer substrate specificity on the complex.

1 GO annotations of molecular function

Name Definition
ubiquitin protein ligase activity Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues.

1 GO annotations of biological process

Name Definition
proteasome-mediated ubiquitin-dependent protein catabolic process The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MCARGQVGRG TQLRTGRPCS QVPGSRWRPE RLLRRQRAGG RPSRPHPARA RPGLSLPATL
70 80 90 100 110 120
LGSRAAAAVP LPLPPALAPG DPAMPVRTEC PPPAGASAAS AASLIPPPPI NTQQPGVATS
130 140 150 160 170 180
LLYSGSKFRG HQKSKGNSYD VEVVLQHVDT GNSYLCGYLK IKGLTEEYPT LTTFFEGEII
190 200 210 220 230 240
SKKHPFLTRK WDADEDVDRK HWGKFLAFYQ YAKSFNSDDF DYEELKNGDY VFMRWKEQFL
250 260 270 280 290
VPDHTIKDIS GASFAGFYYI CFQKSAASIE GYYYHRSSEW YQSLNLTHVP EHSAPIYEFR