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 Q3KNV8

Entry ID Method Resolution Chain Position Source
AF-Q3KNV8-F1 Predicted AlphaFoldDB

131 variants for Q3KNV8

Variant ID(s) Position Change Description Diseaes Association Provenance
TCGA novel 1 M>? Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2796420
rs530546353
5 K>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2796422
rs764423351
10 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA355923996
rs372489853
12 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM300490
CA2796424
rs757796778
13 A>T Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 15 I>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2796426
rs745974154
15 I>V No ClinGen
ExAC
gnomAD
CA355924017
rs1577414128
16 T>P No ClinGen
Ensembl
CA2796428
rs780392365
18 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA355924031
rs780392365
18 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA2796429
rs200875455
18 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA355924032
rs780392365
18 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs554120309
CA2796432
21 S>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel
rs1577414160
CA355924055
22 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
Ensembl
CA91108638
rs747677396
31 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1407893641
CA355924116
31 T>S No ClinGen
TOPMed
rs1015568099
CA91108669
36 T>A No ClinGen
gnomAD
CA2796532
rs780719522
44 K>R No ClinGen
ExAC
gnomAD
CA2796534
rs755855038
49 N>D No ClinGen
ExAC
gnomAD
CA2796535
rs777510767
49 N>K No ClinGen
ExAC
gnomAD
rs1162115308
CA355925792
50 N>H No ClinGen
TOPMed
gnomAD
CA2796536
rs746240016
50 N>S No ClinGen
ExAC
gnomAD
CA355925813
rs1577415322
51 T>N No ClinGen
Ensembl
CA355925808
rs1406712315
51 T>P No ClinGen
gnomAD
rs776201377
CA2796538
58 V>L No ClinGen
ExAC
gnomAD
TCGA novel 64 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1283672509
CA355926034
68 I>V No ClinGen
gnomAD
CA355926045
rs1383962948
69 G>D No ClinGen
TOPMed
CA2796543
rs770005395
69 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA355926649
rs1476416930
78 V>I No ClinGen
TOPMed
CA91113009
rs776789937
82 V>L No ClinGen
Ensembl
CA2796570
rs763679381
87 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA355926744
rs1577417886
87 E>G No ClinGen
Ensembl
rs1470005630
CA355926738
87 E>K No ClinGen
gnomAD
rs1436067837
CA355926750
88 A>P No ClinGen
gnomAD
rs1436067837
CA355926748
88 A>T No ClinGen
gnomAD
CA2796591
rs761352143
88 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1366864461
CA355927420
COSM353298
90 M>I lung [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1161428526
CA355927415
90 M>K No ClinGen
gnomAD
rs765004074
CA2796592
90 M>V No ClinGen
ExAC
gnomAD
rs750026979
CA2796593
92 K>Q No ClinGen
ExAC
gnomAD
rs538604823
CA2796594
93 Q>H No ClinGen
1000Genomes
ExAC
gnomAD
rs1393156105
CA355927508
95 E>D No ClinGen
gnomAD
rs753019717
CA2796596
97 Y>C No ClinGen
ExAC
gnomAD
TCGA novel 99 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA355927588
rs1351009952
101 G>S No ClinGen
TOPMed
gnomAD
rs975371130
CA91118528
105 P>L No ClinGen
TOPMed
gnomAD
rs201716638
CA2796598
108 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2796599
rs749376888
108 I>T No ClinGen
ExAC
gnomAD
CA2796600
rs757281166
109 K>E No ClinGen
ExAC
gnomAD
rs1481885244
CA355927739
110 G>E No ClinGen
gnomAD
CA355927732
rs1577424197
110 G>R No ClinGen
Ensembl
rs1251603437
CA355927753
111 E>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1465600607
CA355927747
111 E>Q No ClinGen
TOPMed
rs779253635
CA2796601
114 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA355927814
rs1483667569
114 S>P No ClinGen
gnomAD
rs746055497
CA2796602
115 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA355927850
rs1423252969
117 Q>K No ClinGen
TOPMed
gnomAD
rs1207652348
CA355927909
120 D>V No ClinGen
TOPMed
rs34993692
CA2796603
122 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2796605
rs746754950
123 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
COSM1057295
rs201626789
CA2796604
123 R>W ovary Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2796607
rs370347182
125 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764421125
CA2796632
126 E>D No ClinGen
ExAC
gnomAD
rs1172676581
CA355928349
127 T>I No ClinGen
TOPMed
CA2796633
rs183503213
128 K>N No ClinGen
1000Genomes
ExAC
gnomAD
CA91119553
rs369600342
129 A>V No ClinGen
gnomAD
rs1386368450
CA355928385
130 D>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA355928387
rs1456214840
131 D>H No ClinGen
TOPMed
gnomAD
rs1456214840
CA355928398
131 D>N No ClinGen
TOPMed
gnomAD
rs1456214840
CA355928389
131 D>Y No ClinGen
TOPMed
gnomAD
rs765730151
CA2796635
132 S>T No ClinGen
ExAC
gnomAD
CA2796636
rs573005305
134 N>H No ClinGen
1000Genomes
ExAC
gnomAD
rs758440465
CA2796637
136 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA91119577
rs1048353837
136 E>Q No ClinGen
TOPMed
gnomAD
CA355928493
rs1202740786
137 A>S No ClinGen
TOPMed
rs1202740786
CA355928491
137 A>T No ClinGen
TOPMed
rs960588934
CA91119586
138 A>S No ClinGen
TOPMed
rs1321433235
CA355928510
138 A>V No ClinGen
TOPMed
CA355928519
rs1208129740
139 E>A No ClinGen
gnomAD
rs1373108915
CA355928514
139 E>K No ClinGen
TOPMed
rs1560210239
CA355928545
140 E>D No ClinGen
Ensembl
rs1577425362
CA355928563
141 K>N No ClinGen
Ensembl
rs1012267189
CA355928559
141 K>R No ClinGen
TOPMed
CA91119613
rs1012267189
141 K>T No ClinGen
TOPMed
CA2796641
rs751806861
142 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA2796640
rs751806861
142 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs201838189
CA91119696
145 D>G No ClinGen
TOPMed
rs1426568919
CA355928609
145 D>N No ClinGen
TOPMed
rs747926473
CA2796643
146 N>D No ClinGen
ExAC
gnomAD
rs769631183
CA2796644
146 N>S No ClinGen
ExAC
TOPMed
rs1201361722
CA355928654
148 Y>C No ClinGen
gnomAD
rs777697943
CA2796645
151 S>R No ClinGen
ExAC
CA91119751
rs370937234
152 D>E No ClinGen
ESP
ExAC
TOPMed
rs1473620756
CA355928729
153 E>Q No ClinGen
TOPMed
CA2796690
rs746639007
155 V>L No ClinGen
ExAC
gnomAD
rs1199863296
CA355913970
161 C>Y No ClinGen
gnomAD
CA355913985
rs1278695006
162 N>H No ClinGen
gnomAD
rs561952925
CA2796692
164 S>N No ClinGen
1000Genomes
ExAC
gnomAD
COSM1430916
CA355914097
rs1206319800
167 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1246980678
CA355914100
167 R>H No ClinGen
TOPMed
gnomAD
rs547312640
CA2796694
CA2796695
168 G>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1407477560
CA355914150
171 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA355914172
rs1345760851
172 K>R No ClinGen
gnomAD
CA355914238
rs1318646361
175 R>C No ClinGen
TOPMed
gnomAD
rs1388151810
CA355914250
175 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1577446157
CA355914294
178 A>G No ClinGen
Ensembl
CA2796700
rs764173690
179 Q>H No ClinGen
ExAC
gnomAD
rs753649606
CA2796701
180 A>V No ClinGen
ExAC
gnomAD
CA355914525
rs1289292011
189 I>V No ClinGen
TOPMed
rs768253505
CA2796708
191 K>N No ClinGen
ExAC
gnomAD
TCGA novel 192 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs34100269
CA355914658
CA2796711
194 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA355914667
rs1264845260
195 L>F No ClinGen
gnomAD
CA91088189
rs868301100
196 S>L No ClinGen
Ensembl
CA355914715
rs1577446208
198 F>S No ClinGen
Ensembl
CA355914744
rs1303295946
200 E>K No ClinGen
TOPMed
TCGA novel 202 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA91092083
rs528066967
203 I>V No ClinGen
Ensembl
rs747454523
CA2796755
207 E>K No ClinGen
ExAC
gnomAD
TCGA novel 208 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
RCV001197055
rs1745284197
214 H>Y No ClinVar
dbSNP
rs1452876761
CA355915992
215 T>I No ClinGen
TOPMed
CA355916045
rs200620611
218 F>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs768601750
CA2796808
229 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs761316369
CA2796810
230 P>L No ClinGen
ExAC
gnomAD
rs1403288201
CA355916564
234 H>Q No ClinGen
gnomAD
CA2796815
rs753019870
234 H>Y No ClinGen
ExAC
gnomAD
rs764604416
CA2796817
236 R>K No ClinGen
ExAC
gnomAD
CA91093445
rs1029081275
239 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1375796949
CA355916614
241 L>F No ClinGen
gnomAD

No associated diseases with Q3KNV8

3 regional properties for Q3KNV8

Type Name Position InterPro Accession
domain Zinc finger, RING-type 17 - 56 IPR001841
conserved_site Zinc finger, RING-type, conserved site 33 - 42 IPR017907
domain RAWUL domain 172 - 236 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

5 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.
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.

3 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.
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
A0JN86 PCGF5 Polycomb group RING finger protein 5 Bos taurus (Bovine) PR
Q2KJ29 PCGF3 Polycomb group RING finger protein 3 Bos taurus (Bovine) PR
Q9BYE7 PCGF6 Polycomb group RING finger protein 6 Homo sapiens (Human) PR
Q86SE9 PCGF5 Polycomb group RING finger protein 5 Homo sapiens (Human) PR
Q3UK78 Pcgf5 Polycomb group RING finger protein 5 Mus musculus (Mouse) PR
Q8BTQ0 PcgF3 Polycomb group RING finger protein 3 Mus musculus (Mouse) PR
Q07G17 pcgf3 Polycomb group RING finger protein 3 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q1JPS1 pcgf5b Polycomb group RING finger protein 5-B Danio rerio (Zebrafish) (Brachydanio rerio) PR
B3DK16 pcgf5a Polycomb group RING finger protein 5-A Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MLTRKIKLWD INAHITCRLC SGYLIDATTV TECLHTFCRS CLVKYLEENN TCPTCRIVIH
70 80 90 100 110 120
QSHPLQYIGH DRTMQDIVYK LVPGLQEAEM RKQREFYHKL GMEVPGDIKG ETCSAKQHLD
130 140 150 160 170 180
SHRNGETKAD DSSNKEAAEE KPEEDNDYHR SDEQVSICLE CNSSKLRGLK RKWIRCSAQA
190 200 210 220 230 240
TVLHLKKFIA KKLNLSSFNE LDILCNEEIL GKDHTLKFVV VTRWRFKKAP LLLHYRPKMD
LL