PCGF3 Gene - Polycomb Group Ring Finger 3
A core component of the Polycomb repressive complex 1 (PRC1) involved in transcriptional repression and chromatin remodeling.
Gene Information Card
| Symbol | PCGF3 |
|---|---|
| Full Name | Polycomb Group Ring Finger 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 4p16.3 |
| NCBI Gene ID | 10336 ncbi.nlm.nih.gov/gene/10336 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q3KNV8 |
| OMIM ID | 617543 |
| HGNC ID | 8828 |
| Aliases | RNF3, MEL-18, PCGF3 |
Description
PCGF3 (Polycomb Group Ring Finger 3) encodes a member of the Polycomb group (PcG) family, which forms part of the Polycomb repressive complex 1 (PRC1). This complex mediates monoubiquitination of histone H2A at lysine 119 (H2AK119ub), contributing to transcriptional repression of target genes involved in development, cell cycle regulation, and differentiation. PCGF3 is essential for embryonic development and stem cell maintenance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | PCGF3 overexpression may promote PRC1-mediated repression of tumor suppressor genes, enhancing cell proliferation. | COSMIC; PMID: 25691885 |
| Colorectal cancer | Altered PCGF3 expression correlates with poor prognosis and may drive oncogenic transcriptional silencing. | COSMIC; PMID: 28431248 |
| Neurodevelopmental disorders | PCGF3 mutations identified in patients with intellectual disability and developmental delay, likely due to disrupted PRC1 function. | ClinVar; PMID: 31036916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.3 | Low |
| Brain | 6.1 | Low |
| Lung | 4.7 | Low |
| Liver | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney cells |
| K562 | 7.8 | Leukemia cell line |
| MCF7 | 6.5 | Breast cancer cell line |
| HepG2 | 4.1 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.1% | Loss of PRC1 binding; associated with neurodevelopmental delay (ClinVar) |
| c.544_546del (p.Lys182del) | In-frame deletion | <0.1% | Altered protein stability; reported in COSMIC for colorectal cancer |
| c.1A>G (p.Met1Val) | Start loss | <0.1% | Loss of translation initiation; likely loss-of-function (ClinVar) |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations impair PRC1 complex assembly and H2AK119 ubiquitination, leading to derepression of Polycomb target genes.
Gain of Function (GOF)
Not documented in curated databases.
Dominant Negative (DN)
Not documented in curated databases.
View complete mutation data：
Gene Ontology (GO)
Pathways
• hsa04110: Cell cycle
• hsa05202: Transcriptional misregulation in cancer
• hsa05206: MicroRNAs in cancer
• hsa05224: Breast cancer
Protein Summary
PCGF3 is a 344-amino acid protein containing a RING finger domain essential for E3 ubiquitin ligase activity within PRC1. It localizes to the nucleus and interacts with core PRC1 components such as RING1B and BMI1. PCGF3 is required for maintaining H2AK119ub levels at Polycomb target genes, thereby repressing developmental regulators and maintaining cell identity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PCGF3 Knockout HEK293 Cell Line | EDJ-KQ7012 | Human | 10336 | Details Get a Quote |
| PCGF3 Knockout A-549 Cell Line | EDJ-KQ31749 | Human | 10336 | Details Get a Quote |
| PCGF3 Knockout HCT 116 Cell Line | EDJ-KQ31750 | Human | 10336 | Details Get a Quote |
| PCGF3 Knockout HeLa Cell Line | EDJ-KQ31751 | Human | 10336 | Details Get a Quote |
