Q3KNV8
Gene name |
PCGF3 (RNF3, RNF3A) |
Protein name |
Polycomb group RING finger protein 3 |
Names |
RING finger protein 3A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10336 |
EC number |
|
Protein Class |
|
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
Functions
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 |