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 Q86SE9

Entry ID Method Resolution Chain Position Source
4S3O X-ray 200 A C/F 1-109 PDB
AF-Q86SE9-F1 Predicted AlphaFoldDB

108 variants for Q86SE9

Variant ID(s) Position Change Description Diseaes Association Provenance
CA5598949
rs759838829
3 T>N No ClinGen
ExAC
gnomAD
rs1177227922
CA377794770
7 H>Y No ClinGen
TOPMed
TCGA novel 9 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5598951
rs775415140
10 K>E No ClinGen
ExAC
gnomAD
CA377794810
rs1265517654
12 F>C No ClinGen
gnomAD
rs976386285
CA211984494
12 F>I No ClinGen
Ensembl
rs1589377262
CA377794842
17 T>P No ClinGen
Ensembl
CA5598952
rs372696858
19 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA377794857
rs1454147858
19 Y>H No ClinGen
TOPMed
CA5598953
rs764060027
27 K>E No ClinGen
ExAC
gnomAD
rs1448969907
CA377794927
29 T>S No ClinGen
gnomAD
rs761358364
CA5598955
32 T>A No ClinGen
ExAC
gnomAD
CA5598956
COSM921372
rs764871600
32 T>M endometrium Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA377794980
rs1431307337
37 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA5598982
rs778961490
44 V>I No ClinGen
ExAC
gnomAD
CA5598984
rs372569296
50 S>N No ClinGen
ESP
ExAC
gnomAD
CA377795399
rs1191189891
52 D>V No ClinGen
Ensembl
CA5598986
rs530214236
55 R>K No ClinGen
1000Genomes
ExAC
gnomAD
CA377795421
rs768541378
55 R>S No ClinGen
ExAC
gnomAD
CA377795454
rs1420862961
60 V>F No ClinGen
TOPMed
TCGA novel 69 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750721214
CA211987259
73 N>S No ClinGen
TOPMed
rs759182214
CA5599014
74 T>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 76 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1263252851
CA377795585
76 E>A No ClinGen
gnomAD
rs767091903
CA5599015
COSM686102
79 I>V lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs574214042
CA5599016
80 F>L No ClinGen
1000Genomes
ExAC
gnomAD
CA211987260
rs1048644588
81 K>* No ClinGen
Ensembl
rs765552152
CA5599018
87 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5599019
rs372777415
88 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1454529389
CA377795737
89 Q>* No ClinGen
gnomAD
CA377795847
rs1303848081
93 R>C No ClinGen
gnomAD
rs766732374
CA5599042
93 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA5599043
rs752133035
96 E>V No ClinGen
ExAC
gnomAD
TCGA novel 98 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 99 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5599044
rs759646412
101 N>S No ClinGen
ExAC
gnomAD
CA377795994
rs1366698781
103 P>A No ClinGen
gnomAD
rs1195986707
CA377796034
106 N>D No ClinGen
gnomAD
CA377796055
rs1308771313
107 G>V No ClinGen
gnomAD
rs1457582441
CA377796146
109 D>G No ClinGen
gnomAD
CA377796153
rs1184483839
110 D>G No ClinGen
gnomAD
rs375287111
CA5599065
111 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA211987564
rs760785402
115 D>V No ClinGen
TOPMed
CA377796192
rs1471884763
116 K>R No ClinGen
gnomAD
rs151323358
CA5599066
117 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1410498661
CA377796207
118 K>R No ClinGen
gnomAD
CA5599068
rs756964181
120 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs369899767
CA211987565
120 D>G No ClinGen
ESP
TOPMed
gnomAD
CA377796237
rs1297756250
122 E>D No ClinGen
gnomAD
CA377796241
rs957047222
123 G>D No ClinGen
TOPMed
gnomAD
CA5599069
rs373196380
123 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs957047222
CA211987567
123 G>V No ClinGen
TOPMed
gnomAD
CA5599070
rs750339445
124 D>Y No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 128 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779539576
CA5599072
129 D>A No ClinGen
ExAC
TOPMed
gnomAD
rs779539576
CA377796285
129 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs1490244018
CA377796282
129 D>H No ClinGen
TOPMed
CA377796289
rs1230889083
130 K>E No ClinGen
TOPMed
CA211987568
rs766751742
131 D>E No ClinGen
Ensembl
rs1283091937
CA377796301
131 D>G No ClinGen
gnomAD
TCGA novel 141 I>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780666085
CA5599075
144 D>N No ClinGen
ExAC
gnomAD
rs1317766789
CA377796415
147 R>L No ClinGen
gnomAD
TCGA novel 147 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 151 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA377796455
rs1187059741
153 G>E No ClinGen
gnomAD
rs780964655
RCV000513312
154 D>missing No ClinVar
dbSNP
CA377796458
rs1242801229
154 D>N No ClinGen
gnomAD
CA377796471
rs746372818
155 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs774910464
CA5599079
155 N>S No ClinGen
ExAC
gnomAD
rs772638785
CA5599081
158 K>M No ClinGen
ExAC
gnomAD
TCGA novel 161 M>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200475271
CA211988578
161 M>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs747739155
CA5599094
161 M>T No ClinGen
ExAC
gnomAD
rs200475271
CA5599093
161 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1204358468
CA377796551
165 I>V No ClinGen
TOPMed
rs777571971
CA5599097
COSM921376
166 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA377796584
rs1232977395
COSM428124
170 R>H Variant assessed as Somatic; 4.709e-05 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1280414510
CA377796591
171 V>A No ClinGen
TOPMed
gnomAD
rs1277784414
CA377796588
171 V>L No ClinGen
TOPMed
CA377796624
rs1356134439
177 K>Q No ClinGen
gnomAD
CA377796685
rs1283379493
185 K>R No ClinGen
gnomAD
rs1238159237
CA377796691
186 L>F No ClinGen
gnomAD
rs1285438472
CA377796696
187 P>A No ClinGen
TOPMed
gnomAD
CA377796695
rs1285438472
187 P>S No ClinGen
TOPMed
gnomAD
rs775822212
CA5599099
189 S>F No ClinGen
ExAC
gnomAD
rs747593585
CA5599100
190 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1158301669
CA377796759
194 V>G No ClinGen
gnomAD
rs747459481
CA5599119
197 N>I No ClinGen
ExAC
gnomAD
TCGA novel 197 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM3383080
CA377796920
rs1166303987
216 R>* Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs781558423
CA5599121
220 E>K No ClinGen
ExAC
gnomAD
CA5599141
COSM1349761
rs755316155
223 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
COSM921378
rs751887657
CA5599140
223 R>W Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1347797101
CA377794500
227 C>S No ClinGen
TOPMed
CA211989608
rs377561962
228 S>P No ClinGen
ESP
TOPMed
gnomAD
rs748687822
CA5599143
230 S>W No ClinGen
ExAC
gnomAD
TCGA novel 231 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5599145
rs777886510
234 S>C No ClinGen
ExAC
gnomAD
rs771114816
CA5599147
235 Q>R No ClinGen
ExAC
gnomAD
rs1253851433
CA377794587
240 Y>D No ClinGen
gnomAD
rs779153610
CA5599166
242 S>P No ClinGen
ExAC
gnomAD
rs1172620363
CA377794632
244 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA211990288
rs920325293
245 M>V No ClinGen
TOPMed
CA377794645
rs1185746673
246 V>G No ClinGen
TOPMed
rs1037344299
CA211990289
246 V>I No ClinGen
TOPMed
gnomAD
CA377794690
rs1489707168
253 I>T No ClinGen
gnomAD

No associated diseases with Q86SE9

3 regional properties for Q86SE9

Type Name Position InterPro Accession
domain Zinc finger, RING-type 18 - 56 IPR001841
conserved_site Zinc finger, RING-type, conserved site 34 - 43 IPR017907
domain RAWUL domain 163 - 216 IPR032443

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
  • Nucleus, nucleoplasm
  • Recruited by the non-coding RNA Xist to specific nuclear foci that probably correspond to the inactivated X chromosome
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

7 GO annotations of cellular component

Name Definition
centrosome A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
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.
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.
PcG protein complex A chromatin-associated multiprotein complex containing Polycomb Group proteins. In Drosophila, Polycomb group proteins are involved in the long-term maintenance of gene repression, and PcG protein complexes associate with Polycomb group response elements (PREs) in target genes to regulate higher-order chromatin structure.
PRC1 complex A multiprotein complex that mediates monoubiquitination of lysine residues of histone H2A (lysine-118 in Drosophila or lysine-119 in mammals). The complex is required for stable long-term maintenance of transcriptionally repressed states and is involved in chromatin remodeling.
X chromosome The sex chromosome present in both sexes of species in which the male is the heterogametic sex. Two copies of the X chromosome are present in each somatic cell of females and one copy is present in males.

1 GO annotations of molecular function

Name Definition
metal ion binding Binding to a metal ion.

4 GO annotations of biological process

Name Definition
histone H2A-K119 monoubiquitination The modification of histone H2A by addition of a single ubiquitin group to lysine-119 (H2A- K119) in metazoans, and at the equivalent residue in other organisms.
inactivation of X chromosome by genomic imprinting Compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex by genomic imprinting.
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.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

9 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q2KJ29 PCGF3 Polycomb group RING finger protein 3 Bos taurus (Bovine) PR
A0JN86 PCGF5 Polycomb group RING finger protein 5 Bos taurus (Bovine) PR
Q3KNV8 PCGF3 Polycomb group RING finger protein 3 Homo sapiens (Human) PR
Q9BYE7 PCGF6 Polycomb group RING finger protein 6 Homo sapiens (Human) PR
Q8BTQ0 PcgF3 Polycomb group RING finger protein 3 Mus musculus (Mouse) PR
Q3UK78 Pcgf5 Polycomb group RING finger protein 5 Mus musculus (Mouse) PR
Q07G17 pcgf3 Polycomb group RING finger protein 3 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
B3DK16 pcgf5a Polycomb group RING finger protein 5-A Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q1JPS1 pcgf5b Polycomb group RING finger protein 5-B Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MATQRKHLVK DFNPYITCYI CKGYLIKPTT VTECLHTFCK TCIVQHFEDS NDCPRCGNQV
70 80 90 100 110 120
HETNPLEMLR LDNTLEEIIF KLVPGLREQE LERESEFWKK NKPQENGQDD TSKADKPKVD
130 140 150 160 170 180
EEGDENEDDK DYHRSDPQIA ICLDCLRNNG QSGDNVVKGL MKKFIRCSTR VTVGTIKKFL
190 200 210 220 230 240
SLKLKLPSSY ELDVLCNGEI MGKDHTMEFI YMTRWRLRGE NFRCLNCSAS QVCSQDGPLY
250
QSYPMVLQYR PRIDFG