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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PCGF1
polycomb group ring finger 1
Chromosome 2 · 2p13.1
NCBI Gene: 84759Ensembl: ENSG00000115289.15HGNC: HGNC:17615UniProt: Q9BSM1
72PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleusnucleoplasmPcG protein complexprotein bindingattention deficit hyperactivity disordergliomaneoplasmcolorectal cancer
✦AI Summary

PCGF1 (polycomb group ring finger 1) is a core component of Polycomb Repressive Complex 1.1 (PRC1.1), functioning as an epigenetic regulator that maintains transcriptional repression through histone H2A monoubiquitylation at lysine 119 (H2AK119ub) 1. Within PRC1.1 complexes containing BCOR and KDM2B, PCGF1 regulates RNF2 ubiquitin ligase activity to mediate chr2 modifications 2. PCGF1 also promotes stemness and proliferation by repressing CDKN1A (cell cycle inhibitor) expression, particularly in colorectal cancer stem cells 3. Disease relevance spans multiple pathologies: in acute myeloid leukemia with KMT2A rearrangements, loss of PRC1.1 subunits including PCGF1 causes menin inhibitor resistance through reactivation of oncogenic targets like MYC 2; in adolescent depression, reduced microglial PCGF1 correlates with neuroinflammation through MMP10 upregulation and NF-κB/MAPK pathway activation 4; and in bone loss, PRC1.1 acts as an epigenetic brake suppressing Wnt signaling 1. Therapeutically, PCGF1 represents a druggable target—small molecule inhibitors of BCOR-PCGF1 interaction enhance bone formation, while PCGF1 inhibition combined with venetoclax or MYC inhibition may overcome leukemia resistance 21. Additionally, PCGF1 functions in developmental gene licensing through SKP1A-mediated PRC2 degradation, preconditioning genes for activation 5.

Sources cited
1
PCGF1 (polycomb group ring finger 1) is a core component of Polycomb Repressive Complex 1.1 (PRC1.1), functioning as an epigenetic regulator that maintains transcriptional repression through histone H2A monoubiquitylation at lysine 119 (H2AK119ub) .
PMID: 40341537
2
Within PRC1.1 complexes containing BCOR and KDM2B, PCGF1 regulates RNF2 ubiquitin ligase activity to mediate chr2 modifications .
PMID: 39158067
3
PCGF1 also promotes stemness and proliferation by repressing CDKN1A (cell cycle inhibitor) expression, particularly in colorectal cancer stem cells .
PMID: 34148069
4
Disease relevance spans multiple pathologies: in acute myeloid leukemia with KMT2A rearrangements, loss of PRC1.1 subunits including PCGF1 causes menin inhibitor resistance through reactivation of oncogenic targets like MYC ; in adolescent depression, reduced microglial PCGF1 correlates with neuroinflammation through MMP10 upregulation and NF-κB/MAPK pathway activation ; and in bone loss, PRC1.1 acts as an epigenetic brake suppressing Wnt signaling .
PMID: 39215186
5
Additionally, PCGF1 functions in developmental gene licensing through SKP1A-mediated PRC2 degradation, preconditioning genes for activation .
PMID: 40858113
Disease Associationsⓘ20
attention deficit hyperactivity disorderOpen Targets
0.09Suggestive
gliomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
colorectal cancerOpen Targets
0.08Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.07Suggestive
movement disorderOpen Targets
0.07Suggestive
attention deficit-hyperactivity disorder 8Open Targets
0.07Suggestive
intellectual disability, autosomal recessive 59Open Targets
0.07Suggestive
schizophrenia 15Open Targets
0.07Suggestive
early-onset non-syndromic cataractOpen Targets
0.07Suggestive
colorectal carcinomaOpen Targets
0.06Suggestive
Total congenital cataractOpen Targets
0.06Suggestive
Cataract-microcornea syndromeOpen Targets
0.06Suggestive
Partial congenital cataractOpen Targets
0.06Suggestive
Phelan-McDermid syndromeOpen Targets
0.06Suggestive
preeclampsiaOpen Targets
0.06Suggestive
Cataract with Y-shaped suture opacitiesOpen Targets
0.06Suggestive
isolated ectopia lentisOpen Targets
0.06Suggestive
MODYOpen Targets
0.06Suggestive
early-onset nuclear cataractOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SKP1Protein interaction100%USP7Protein interaction100%YAF2Protein interaction100%BCORL1Protein interaction100%PHC1Protein interaction100%PCGF6Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Lung
70%
Bone Marrow
61%
Heart
60%
Ovary
53%
Brain
34%
Gene Interaction Network
Click a node to explore
PCGF1SKP1USP7YAF2BCORL1PHC1PCGF6
PROTEIN STRUCTURE
Preparing viewer…
PDB4HPM · 1.85 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.45Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.26 [0.16–0.45]
RankingsWhere PCGF1 stands among ~20K protein-coding genes
  • #6,575of 20,598
    Most Researched72
  • #2,472of 17,882
    Most Constrained (LOEUF)0.45 · top quartile
Genes detectedPCGF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Epigenetic regulation of noncanonical menin targets modulates menin inhibitor response in acute myeloid leukemia.
PMID: 39158067
Blood · 2024
1.00
2
Microglial PCGF1 alleviates neuroinflammation associated depressive behavior in adolescent mice.
PMID: 39215186
Mol Psychiatry · 2025
0.90
3
Targeted disruption of PRC1.1 complex enhances bone remodeling.
PMID: 40341537
Nat Commun · 2025
0.80
4
Biological functions of chromobox (CBX) proteins in stem cell self-renewal, lineage-commitment, cancer and development.
PMID: 32979540
Bone · 2021
0.70
5
SKP1A bound to Polycomb-silenced genes mediates degradation of PRC2 and preconditions their activation.
PMID: 40858113
Mol Cell · 2025
0.60