PCGF1 Polycomb Group Ring Finger 1
A core component of the Polycomb repressive complex 1 (PRC1) involved in transcriptional repression and chromatin remodeling.
Gene Information Card
| Symbol | PCGF1 |
|---|---|
| Full Name | Polycomb Group Ring Finger 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q35 |
| NCBI Gene ID | 84759 ncbi.nlm.nih.gov/gene/84759 |
| Ensembl ID | ENSG00000115970 |
| UniProt ID | Q9BSM1 |
| OMIM ID | 610484 |
| HGNC ID | 19117 |
| Aliases | RNF68, NSPc1, MEL-18, RING finger protein 68 |
Description
PCGF1 (Polycomb Group Ring Finger 1) encodes a RING finger domain-containing protein that is a core component of the Polycomb repressive complex 1 (PRC1). PRC1 mediates monoubiquitination of histone H2A at lysine 119 (H2AK119ub), contributing to transcriptional repression of target genes involved in development, differentiation, and cell cycle regulation. PCGF1 is essential for maintaining stem cell identity and is implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | PCGF1 overexpression promotes PRC1-mediated repression of tumor suppressor genes, enhancing proliferation. | COSMIC; PMID: 25686124 |
| Colorectal cancer | PCGF1 upregulation correlates with poor prognosis and drives oncogenic transcriptional programs. | COSMIC; PMID: 28991257 |
| Acute myeloid leukemia | PCGF1 fusion proteins (e.g., PCGF1-MLL) disrupt normal PRC1 function, leading to aberrant gene silencing. | COSMIC; PMID: 23334668 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Bone marrow | 8.7 | Medium |
| Lymph node | 6.5 | Low |
| Brain | 4.2 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 11.8 | High expression |
| K562 | 9.4 | Medium expression |
| MCF7 | 7.1 | Medium expression |
| HepG2 | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | <0.1% | Loss of function; predicted to cause nonsense-mediated decay |
| c.452G>A (p.Arg151Gln) | Missense | <0.1% | Unknown; located in RING finger domain |
| c.568_569insA | Frameshift | <0.1% | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg113*, c.568_569insA) are predicted to result in loss of PCGF1 protein function, impairing PRC1 activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in PCGF1.
Dominant Negative (DN)
No dominant-negative mutations described for PCGF1.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • zinc ion binding (GO:0008270) |
| • chromatin organization (GO:0006325) | • chromatin silencing (GO:0006342) |
| • nucleus (GO:0005634) | • PRC1 complex (GO:0035102) |
| • histone H2A monoubiquitination (GO:0043169) |
Pathways
• Polycomb repressive complex 1 (PRC1) pathway
• Histone modification
• Transcriptional regulation by Polycomb group proteins
Protein Summary
PCGF1 is a 256-amino acid protein containing a RING finger domain (residues 28-70) that mediates E3 ubiquitin ligase activity within PRC1. It interacts with RING1B and other PRC1 subunits to catalyze H2AK119ub. PCGF1 is highly expressed in testis and hematopoietic tissues, and its dysregulation is linked to cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PCGF1 Knockout HEK293 Cell Line | EDJ-KQ10191 | Human | 84759 | Details Get a Quote |
| PCGF1 Knockout A-549 Cell Line | EDJ-KQ37329 | Human | 84759 | Details Get a Quote |
| PCGF1 Knockout HCT 116 Cell Line | EDJ-KQ37330 | Human | 84759 | Details Get a Quote |
| PCGF1 Knockout HeLa Cell Line | EDJ-KQ37331 | Human | 84759 | Details Get a Quote |
