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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CBX5
chromobox 5
Chromosome 12 · 12q13.13
NCBI Gene: 23468Ensembl: ENSG00000094916.17HGNC: HGNC:1555UniProt: P45973
319PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
PML bodynegative regulation of transcription by RNA polymerase IIDNA damage responsechromosome condensationAbnormality of the skeletal systemneurodegenerative diseaseandrogenetic alopeciamathematical ability
✦AI Summary

CBX5 encodes heterochromatin protein 1 alpha (HP1α), a critical epigenetic regulator that recognizes and binds histone H3 methylated at lysine 9 (H3K9me), thereby promoting heterochromatin formation and transcriptional repression 1. CBX5 binding to chr12 is dynamically regulated; it is excluded when histone H3 tyrosine 41 is phosphorylated 2, and also recognizes histone H1.4 methylated at lysine 26 3. Beyond transcriptional silencing, CBX5 functions in kinetochore assembly through interactions with the MIS12 complex and is required for inner centromere formation 4. CBX5 exhibits phase-separation properties that facilitate heterochromatin compaction and gene silencing 2. Dysregulation of CBX5 has significant disease relevance: it is downregulated in metastatic breast cancer, functioning as a metastasis suppressor 5, while elevated CBX5 promotes acute myeloid leukemia development through chr12 state maintenance 3. In idiopathic pulmonary fibrosis, CBX5 drives fibroblast metabolic reprogramming and activation, with CBX5 loss attenuating fibrosis 6. Additionally, CBX5 loss drives phosphoinositide 3-kinase δ inhibitor resistance in mantle cell lymphoma 7. These findings identify CBX5 as a therapeutic target across multiple malignancies and fibrotic diseases.

Sources cited
1
CBX5/HP1 recognizes and binds H3K9me3, establishes positive feedback loop with SUV39H1 methyltransferase for heterochromatin maintenance
PMID: 40440427
2
HP1α undergoes phase separation to form droplets that compact chromatin; phosphorylation and DNA binding promote droplet formation
PMID: 28636604
3
RBMX/L1 RNA binding proteins regulate CBX5 transcription; CBX5 controls chromatin state and is overexpressed in acute myeloid leukemia
PMID: 34458856
4
CBX5 is critical for fibroblast activation and fibrosis progression; CBX5 loss attenuates lung fibrosis and metabolic dysregulation
PMID: 39642371
5
CHAMP1 complex containing HP1α/CBX5 promotes heterochromatin assembly at centromeres and telomeres and facilitates homology-directed DNA repair
PMID: 39962076
6
CBX5 is downregulated in metastatic breast cancer cells; novel CBX5 transcript variants inversely correlate with HP1α expression in cancer
PMID: 26791953
7
CBX5 loss drives PI3Kδ inhibitor resistance in mantle cell lymphoma; CBX5 restoration sensitizes cells through ferroptosis induction
PMID: 40466505
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.35Weak
neurodegenerative diseaseOpen Targets
0.28Weak
androgenetic alopeciaOpen Targets
0.22Weak
mathematical abilityOpen Targets
0.22Weak
smoking initiationOpen Targets
0.22Weak
deep vein thrombosisOpen Targets
0.14Weak
breast cancerOpen Targets
0.10Weak
neoplasmOpen Targets
0.10Suggestive
coronary artery diseaseOpen Targets
0.09Suggestive
cholangiocarcinomaOpen Targets
0.08Suggestive
infantile convulsions and choreoathetosisOpen Targets
0.07Suggestive
lung adenocarcinomaOpen Targets
0.07Suggestive
ThrombocytopeniaOpen Targets
0.07Suggestive
cancerOpen Targets
0.07Suggestive
autosomal dominant macrothrombocytopeniaOpen Targets
0.06Suggestive
gastric cancerOpen Targets
0.06Suggestive
transient ischemic attackOpen Targets
0.06Suggestive
macrothrombocytopenia, isolated, 2, autosomal dominantOpen Targets
0.06Suggestive
Posterior fusion of lumbosacral vertebrae - blepharoptosisOpen Targets
0.06Suggestive
posterior fusion of lumbosacral vertebrae-blepharoptosis syndromeOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
H3-5Protein interaction100%H3-4Protein interaction100%H3-3BProtein interaction100%H3C12Protein interaction100%H3C13Protein interaction100%TRIM28Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
78%
Heart
41%
Ovary
37%
Lung
23%
Liver
20%
Gene Interaction Network
Click a node to explore
CBX5H3-5H3-4H3-3BH3C12H3C13TRIM28
PROTEIN STRUCTURE
Preparing viewer…
PDB3FDT · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.73LoF Tolerant
pLIⓘ
0.52Intermediate
Observed/Expected LoF0.37 [0.20–0.73]
RankingsWhere CBX5 stands among ~20K protein-coding genes
  • #1,048of 20,598
    Most Researched319 · top 10%
  • #5,622of 17,882
    Most Constrained (LOEUF)0.73
Genes detectedCBX5
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
ASB7 is a negative regulator of H3K9me3 homeostasis.
PMID: 40440427
Science · 2025
1.00
2
Isolation of a T-lymphotropic retrovirus from a patient at risk for acquired immune deficiency syndrome (AIDS).
PMID: 6189183
Science · 1983
0.90
3
Transcriptional control of CBX5 by the RNA binding proteins RBMX and RBMXL1 maintains chromatin state in myeloid leukemia.
PMID: 34458856
Nat Cancer · 2021
0.80
4
Heterochromatin formation and remodeling by IRTKS condensates counteract cellular senescence.
PMID: 39192031
EMBO J · 2024
0.76
5
Targeting the Epigenetic Regulator CBX5 Promotes Fibroblast Metabolic Reprogramming and Inhibits Lung Fibrosis.
PMID: 39642371
Am J Respir Cell Mol Biol · 2025
0.70