PCGF5 Gene - Polycomb Group Ring Finger 5
A key regulator of chromatin modification and transcriptional repression
Gene Information Card
| Symbol | PCGF5 |
|---|---|
| Full Name | Polycomb Group Ring Finger 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q23.33 |
| NCBI Gene ID | 84333 ncbi.nlm.nih.gov/gene/84333 |
| Ensembl ID | ENSG00000119977 |
| UniProt ID | Q9H3H0 |
| OMIM ID | 617637 |
| HGNC ID | 19119 |
| Aliases | RNF159, MGC14836 |
Description
PCGF5 (Polycomb Group Ring Finger 5) encodes a member of the Polycomb group (PcG) family, which forms part of the Polycomb repressive complex 1 (PRC1). This protein contains a RING finger domain and is involved in chromatin modification, specifically catalyzing the monoubiquitination of histone H2A at lysine 119 (H2AK119ub1). PCGF5 plays a critical role in transcriptional repression, cell differentiation, and development. It is widely expressed in various tissues and has been implicated in cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | PCGF5 overexpression may promote tumor growth by altering PRC1 activity and gene silencing | COSMIC; PMID: 25631443 |
| Colorectal cancer | PCGF5 mutations and altered expression linked to poor prognosis | COSMIC; PMID: 27626308 |
| Neurodevelopmental disorders | PCGF5 variants identified in patients with intellectual disability and autism spectrum disorder | ClinVar; PMID: 31036916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.7 | Medium |
| Lung | 6.2 | Low |
| Liver | 4.1 | Low |
| Kidney | 5.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney cells |
| HeLa | 8.9 | Cervical cancer cells |
| K562 | 7.4 | Leukemia cells |
| MCF7 | 6.8 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Alters RING finger domain; potential loss of function |
| c.454G>A (p.Glu152Lys) | Missense | <0.01% | Unknown effect; reported in ClinVar |
| c.123delC (p.Pro42fs) | Frameshift | <0.01% | Loss of function; associated with neurodevelopmental disorder |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in PCGF5 are predicted to cause loss of function, impairing PRC1-mediated H2AK119ub1 and gene repression.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in PCGF5.
Dominant Negative (DN)
Missense mutations in the RING finger domain may act as dominant-negative by disrupting PRC1 complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • zinc ion binding (GO:0008270) |
| • chromatin organization (GO:0006325) | • protein ubiquitination (GO:0016567) |
| • nucleus (GO:0005634) |
Pathways
• hsa04120: Ubiquitin mediated proteolysis
• hsa05166: Human T-cell leukemia virus 1 infection
• hsa05202: Transcriptional misregulation in cancer
Protein Summary
PCGF5 is a 256-amino acid protein containing a RING finger domain (residues 28-68) that mediates E3 ubiquitin ligase activity. It is a core component of PRC1, which monoubiquitinates histone H2A at lysine 119, leading to chromatin compaction and transcriptional repression. PCGF5 interacts with other PRC1 subunits such as RING1B and BMI1. Its expression is regulated during development and is altered in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PCGF5 Knockout HEK293 Cell Line | EDJ-KQ9289 | Human | 84333 | Details Get a Quote |
| PCGF5 Knockout A-549 Cell Line | EDJ-KQ37126 | Human | 84333 | Details Get a Quote |
| PCGF5 Knockout HCT 116 Cell Line | EDJ-KQ37128 | Human | 84333 | Details Get a Quote |
| PCGF5 Knockout HeLa Cell Line | EDJ-KQ37129 | Human | 84333 | Details Get a Quote |
