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 Q8N6I1

Entry ID Method Resolution Chain Position Source
AF-Q8N6I1-F1 Predicted AlphaFoldDB

200 variants for Q8N6I1

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1476359575
CA405819515
2 S>P No ClinGen
gnomAD
rs780962605
CA9433089
3 K>R No ClinGen
ExAC
gnomAD
rs376406346
CA9433088
5 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
VAR_038351
rs7252027
CA9433087
6 A>T No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs766205291
CA9433086
7 D>H No ClinGen
ExAC
gnomAD
rs1234918762
CA405819429
8 S>R No ClinGen
gnomAD
rs368921747
CA9433084
9 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA405819414
rs1482362233
9 S>T No ClinGen
TOPMed
CA308246166
rs878874622
11 P>L No ClinGen
Ensembl
CA405819359
rs761190422
13 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs527811892
CA9433083
13 T>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9433082
rs761190422
13 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA405819340
rs1180304424
15 A>T No ClinGen
TOPMed
rs776112037
CA9433081
15 A>V No ClinGen
ExAC
gnomAD
CA9433079
rs759958970
16 A>V No ClinGen
ExAC
gnomAD
rs1319076287
CA405819299
18 G>S No ClinGen
gnomAD
rs774702560
CA9433078
19 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA405818284
rs1421197211
24 Q>* No ClinGen
gnomAD
rs749543194
CA9433076
26 E>V No ClinGen
ExAC
TOPMed
gnomAD
CA9433075
rs777815889
27 V>A No ClinGen
ExAC
gnomAD
rs1485225755
CA405818161
27 V>I No ClinGen
gnomAD
rs983336566
CA308243099
28 G>D No ClinGen
TOPMed
gnomAD
rs769953956
CA405818127
29 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA9433074
rs769953956
29 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA9433072
rs781339867
30 G>R No ClinGen
ExAC
gnomAD
CA9433071
rs200885423
32 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs751479329
CA9433070
33 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA9433069
rs780008791
34 P>A No ClinGen
ExAC
gnomAD
CA405817926
rs1295459634
35 A>V No ClinGen
gnomAD
CA9433067
rs750122220
37 A>V No ClinGen
ExAC
gnomAD
CA405817846
rs1447778803
38 Q>E No ClinGen
gnomAD
rs1600774540
CA405817824
38 Q>H No ClinGen
Ensembl
CA405817789
rs1293375471
40 E>K No ClinGen
gnomAD
rs565043525
CA308243087
40 E>V No ClinGen
1000Genomes
CA9433066
rs764767748
41 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA405817740
rs1355931023
42 A>T No ClinGen
gnomAD
rs77663137
CA405817686
43 G>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9433064
rs77663137
43 G>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs761442952
CA405817697
CA9433065
43 G>R No ClinGen
ExAC
gnomAD
rs1194944950
CA405817578
46 A>V No ClinGen
TOPMed
gnomAD
rs760044833
CA9433062
47 M>L No ClinGen
ExAC
gnomAD
rs1252229428
CA405817518
48 A>E No ClinGen
gnomAD
CA9433061
rs766758554
49 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA405817514
rs1481466555
49 A>T No ClinGen
gnomAD
CA9433060
rs766758554
49 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA308243071
rs544272604
50 A>S No ClinGen
TOPMed
gnomAD
CA405817502
rs544272604
50 A>T No ClinGen
TOPMed
gnomAD
CA9433059
rs763193902
50 A>V No ClinGen
ExAC
gnomAD
CA9433058
rs773534199
51 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1345335547
CA405817467
52 G>A No ClinGen
TOPMed
rs1345335547
CA405817468
52 G>E No ClinGen
TOPMed
TCGA novel 53 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs76427625
CA9433057
54 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9433056
rs76427625
54 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1485790378
CA405817434
55 V>L No ClinGen
gnomAD
rs1372364956
CA405817402
57 A>T No ClinGen
gnomAD
TCGA novel 57 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA405817382
rs572188094
58 A>P No ClinGen
1000Genomes
gnomAD
rs572188094
CA308243065
58 A>T No ClinGen
1000Genomes
gnomAD
VAR_050964
CA9433055
rs3746086
60 E>A No ClinGen
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 60 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA308243057
rs927575978
61 G>A No ClinGen
TOPMed
rs1295711745
CA405817324
61 G>S No ClinGen
TOPMed
gnomAD
CA308243051
rs1011075161
63 M>I No ClinGen
TOPMed
gnomAD
CA405817298
rs1600774450
63 M>R No ClinGen
Ensembl
CA405817290
rs1375930556
64 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs768798913
CA9433054
65 A>V Variant assessed as Somatic; 0.0004941 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA9433053
rs746965679
66 A>D No ClinGen
ExAC
rs1376900565
CA405817284
66 A>S No ClinGen
gnomAD
CA405817271
rs1266503065
68 A>P No ClinGen
TOPMed
CA308243041
rs1055692898
70 P>A No ClinGen
Ensembl
rs1055692898
CA308243043
70 P>T No ClinGen
Ensembl
rs1476997343
CA405817250
71 A>G No ClinGen
TOPMed
rs1476997343
CA405817249
71 A>V No ClinGen
TOPMed
rs927017052
CA308243036
72 A>V No ClinGen
TOPMed
CA308243033
rs1045430519
75 R>K No ClinGen
TOPMed
CA405817228
rs1045430519
75 R>M No ClinGen
TOPMed
CA405817223
rs1315068909
76 G>R No ClinGen
TOPMed
gnomAD
rs1033087356
CA308243029
77 A>S No ClinGen
TOPMed
gnomAD
rs1033087356
CA405817219
77 A>T No ClinGen
TOPMed
gnomAD
CA9433049
rs745634901
77 A>V No ClinGen
ExAC
gnomAD
rs1251040653
CA405817203
80 A>T No ClinGen
gnomAD
rs778692509
CA9433048
82 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA405817181
rs1255952065
83 A>V No ClinGen
gnomAD
rs753431194
CA405817176
84 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs756864090
CA9433047
84 L>M No ClinGen
ExAC
gnomAD
CA405817172
rs1308243691
85 A>S No ClinGen
gnomAD
CA405817168
rs1171232481
86 R>G No ClinGen
gnomAD
CA9433045
rs763613260
87 A>S No ClinGen
ExAC
gnomAD
rs1430757505
CA405817157
87 A>V No ClinGen
gnomAD
CA9433044
rs755577157
89 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs752098045
CA9433043
90 A>T No ClinGen
ExAC
gnomAD
rs1400923081
CA405817141
90 A>V No ClinGen
TOPMed
gnomAD
CA308243002
rs983369272
91 G>S No ClinGen
Ensembl
CA405817104
rs1449702870
94 S>R No ClinGen
TOPMed
rs766846649
CA9433038
96 A>G No ClinGen
ExAC
CA9433036
rs763435288
97 A>V No ClinGen
ExAC
gnomAD
CA9433034
rs765574260
100 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs994490614
CA405816972
103 A>G No ClinGen
TOPMed
gnomAD
rs761958828
CA405816978
103 A>P No ClinGen
ExAC
gnomAD
rs761958828
CA9433028
103 A>S No ClinGen
ExAC
gnomAD
CA9433030
rs761958828
103 A>T No ClinGen
ExAC
gnomAD
rs994490614
CA308242980
103 A>V No ClinGen
TOPMed
gnomAD
CA405816917
COSM293630
rs1390440550
106 A>V large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA405816910
COSM1304564
rs1600774303
107 E>K urinary_tract [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1228191294
CA405816877
108 V>F No ClinGen
gnomAD
CA405816873
rs1600774297
108 V>G No ClinGen
Ensembl
rs1228191294
CA405816883
108 V>I No ClinGen
gnomAD
CA405816871
rs1327477029
109 A>T No ClinGen
gnomAD
CA9433027
rs555882270
109 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA405816859
rs1233579558
110 R>C No ClinGen
gnomAD
CA9433026
rs768889030
111 L>F No ClinGen
ExAC
gnomAD
CA405816836
rs920467211
112 L>V No ClinGen
TOPMed
rs1331701171
CA405816817
114 E>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs748066706
CA9433025
115 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA405816786
rs1319747923
115 P>L No ClinGen
gnomAD
rs748066706
CA405816790
115 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs771897313
CA9433024
CA405816767
116 V>L No ClinGen
ExAC
gnomAD
rs771897313
CA9433023
116 V>M No ClinGen
ExAC
gnomAD
CA9433022
rs745750021
117 D>G No ClinGen
ExAC
gnomAD
CA405816749
rs745750021
117 D>V No ClinGen
ExAC
gnomAD
CA9433019
rs200060326
120 G>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA405816631
rs200060326
120 G>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9433020
rs757024402
120 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1430333932
CA405816616
121 P>L No ClinGen
gnomAD
CA405816580
rs1208698093
123 G>V No ClinGen
gnomAD
CA405816564
rs1216134569
124 R>K No ClinGen
TOPMed
CA405816542
rs1600774253
125 P>L No ClinGen
Ensembl
rs1275196657
CA405816545
125 P>S No ClinGen
TOPMed
rs1463919609
CA405816534
126 R>G No ClinGen
gnomAD
rs1275508604
CA405816525
126 R>K No ClinGen
gnomAD
CA9433017
rs755666985
128 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs752192167
CA9433016
COSM3712924
128 R>T upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA9433015
rs766980168
129 H>Y No ClinGen
ExAC
gnomAD
rs1186365761
CA405816472
130 G>R No ClinGen
TOPMed
TCGA novel 132 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1568460280
CA405816400
132 G>A No ClinGen
Ensembl
rs758836307
CA405816382
133 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs758836307
CA9433014
133 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA308242949
rs1011146910
134 L>V No ClinGen
TOPMed
gnomAD
TCGA novel 136 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1600774214
CA405816291
137 L>V No ClinGen
Ensembl
CA9433012
rs765542168
138 P>S No ClinGen
ExAC
gnomAD
CA405816270
rs765542168
138 P>T No ClinGen
ExAC
gnomAD
rs1161640598
CA405816236
139 Y>C No ClinGen
TOPMed
gnomAD
CA9433011
rs780114375
139 Y>D No ClinGen
ExAC
TOPMed
gnomAD
CA405816248
rs780114375
139 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA405816232
rs1161640598
139 Y>S No ClinGen
TOPMed
gnomAD
rs754154805
CA9433010
140 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs764391216
CA9433009
141 R>G No ClinGen
ExAC
gnomAD
CA9433008
rs760902160
143 R>C No ClinGen
ExAC
gnomAD
CA9433007
rs775714558
146 L>F No ClinGen
ExAC
CA9433006
rs772132619
146 L>R No ClinGen
ExAC
gnomAD
rs1357075984
CA405815942
147 S>G No ClinGen
gnomAD
CA9433005
rs759414406
147 S>R No ClinGen
ExAC
gnomAD
rs926061690
CA308242932
151 I>S No ClinGen
TOPMed
rs770668659
CA9433003
152 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA9433001
rs567845080
158 R>H No ClinGen
1000Genomes
ExAC
gnomAD
CA405815618
rs1225538818
159 H>R No ClinGen
gnomAD
CA405815586
rs1275322575
161 L>M No ClinGen
gnomAD
CA9433000
rs769435100
165 P>R No ClinGen
ExAC
gnomAD
rs754498911
CA308242923
166 I>V No ClinGen
TOPMed
gnomAD
CA405815477
rs1411925188
168 P>S No ClinGen
gnomAD
CA308242921
rs974860825
169 G>S No ClinGen
TOPMed
rs750928494
CA9432996
172 Q>P No ClinGen
ExAC
gnomAD
CA405815401
rs1468059012
173 E>Q No ClinGen
Ensembl
CA405815372
rs1173628483
174 L>P No ClinGen
gnomAD
rs987273623
CA308242918
175 E>G No ClinGen
TOPMed
rs1477969675
CA405815313
178 R>C No ClinGen
gnomAD
rs1376404748
CA405815241
182 V>L No ClinGen
Ensembl
rs1568460232
CA405815185
184 A>S No ClinGen
Ensembl
rs754244593
CA9432993
188 R>G No ClinGen
ExAC
gnomAD
rs764483293
CA9432992
191 A>V No ClinGen
ExAC
gnomAD
CA405814985
rs1167215294
192 F>S No ClinGen
TOPMed
CA405814944
rs1202437012
194 A>G No ClinGen
TOPMed
gnomAD
rs752911187
CA9432990
199 N>D No ClinGen
ExAC
gnomAD
CA405814694
rs1218629495
200 P>R No ClinGen
gnomAD
CA9432989
rs566630361
201 H>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA9432988
rs759628844
202 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA9432987
rs774203684
203 V>L No ClinGen
ExAC
gnomAD
CA308242898
rs372306245
204 D>N No ClinGen
ESP
TOPMed
gnomAD
CA405814576
rs1348622870
205 L>F No ClinGen
gnomAD
rs772998243
CA9432984
207 I>V No ClinGen
ExAC
gnomAD
rs1377397335
CA405814488
208 L>V No ClinGen
TOPMed
gnomAD
CA308242885
rs898824120
209 T>S No ClinGen
TOPMed
rs1253727054
CA405814353
212 I>V No ClinGen
TOPMed
CA9432981
rs747822250
215 T>A No ClinGen
ExAC
gnomAD
TCGA novel 216 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1352275422
CA405814255
216 A>S No ClinGen
TOPMed
rs1160660599
CA405814236
217 S>A No ClinGen
gnomAD
rs1267134832
CA405814234
217 S>C No ClinGen
TOPMed
rs1473095060
CA405814206
218 E>G No ClinGen
gnomAD
rs1001964458
CA308242874
222 P>S No ClinGen
TOPMed
rs1179618859
CA405814069
223 L>V No ClinGen
gnomAD
CA9432978
rs746509987
224 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA405813963
rs1270014203
226 E>K No ClinGen
TOPMed
CA9432977
rs779348803
227 L>I No ClinGen
ExAC
TOPMed
rs1462453328
CA405813779
233 I>F No ClinGen
gnomAD
rs778300745
CA9432972
236 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA405813719
rs1180488637
236 E>Q No ClinGen
TOPMed
gnomAD

No associated diseases with Q8N6I1

No regional properties for Q8N6I1

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q8N6I1

Functions

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

2 GO annotations of cellular component

Name Definition
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

2 GO annotations of molecular function

Name Definition
SMAD binding Binding to a SMAD signaling protein.
transcription corepressor activity A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators.

9 GO annotations of biological process

Name Definition
cell differentiation The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
muscle organ development The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work.
negative regulation of DNA-templated transcription Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of transcription by RNA polymerase II Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
negative regulation of transforming growth factor beta receptor signaling pathway Any process that stops, prevents, or reduces the frequency, rate or extent of any TGF-beta receptor signaling pathway.
regulation of cell population proliferation Any process that modulates the frequency, rate or extent of cell proliferation.
regulation of transforming growth factor beta receptor signaling pathway Any process that modulates the frequency, rate or extent of activity of any TGF-beta receptor signaling pathway.
SMAD protein complex assembly The aggregation, arrangement and bonding together of a set of components to form a protein complex that contains SMAD proteins.
transforming growth factor beta receptor complex assembly The aggregation, arrangement and bonding together of a ligand-bound type II transforming growth factor beta (TGF-beta) receptor dimer with a type I TGF-beta receptor dimer, following ligand binding, to form a heterotetrameric TGF-beta receptor complex.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q17QW4 EID2 EP300-interacting inhibitor of differentiation 2 Bos taurus (Bovine) PR
Q6X7S9 Eid2 EP300-interacting inhibitor of differentiation 2 Mus musculus (Mouse) PR
10 20 30 40 50 60
MSKLPADSSV PQTGAANGDR DVPQAEVGRG RREPAPAQPE EAGEGAMAAA RGGPVPAARE
70 80 90 100 110 120
GRMAAARAAP AAAARGAPVA AAALARAAAA GRESPAAAAA REARMAEVAR LLGEPVDEEG
130 140 150 160 170 180
PEGRPRSRHG NGGLAALPYL RLRHPLSVLG INYQQFLRHY LENYPIAPGR IQELEERRRR
190 200 210 220 230
FVEACRAREA AFDAEYQRNP HRVDLDILTF TIALTASEVI NPLIEELGCD KFINRE