Q86SE9
Gene name |
PCGF5 (RNF159) |
Protein name |
Polycomb group RING finger protein 5 |
Names |
RING finger protein 159 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84333 |
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
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
Functions
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 |