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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CBX1
chromobox 1
Chromosome 17 · 17q21.32
NCBI Gene: 10951Ensembl: ENSG00000108468.16HGNC: HGNC:1551UniProt: P83916
198PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
chromosome, telomeric regionnuclear bodysite of DNA damageprotein bindingviral diseaseneurodegenerative diseaseAbnormality of the skeletal systemtype 2 diabetes mellitus
✦AI Summary

CBX1 (chr17 1) encodes heterochromatin protein 1β (HP1β), a core component of heterochromatin that functions as a histone methylation reader 1. Its primary mechanism involves recognizing and binding histone H3 tails methylated at lysine-9 (H3K9me3), leading to transcriptional repression and heterochromatin formation 1. CBX1 also interacts with the polycomb repressive complex 2 (PRC2) to mediate H3K27me3-dependent silencing of tissue-specific genes 2. The protein's chr17 is essential for binding methylated histones and chr17 association 3. CBX1 is significantly upregulated across multiple cancer types and correlates with poor patient prognosis 4. In hepatocellular carcinoma, CBX1 promotes cancer progression and resistance to tyrosine kinase inhibitors through the IGF-1R/AKT/SNAIL signaling axis 4. In nasopharyngeal carcinoma, CBX1 suppresses MAP7 expression via H3K9me3-mediated heterochromatin formation and facilitates immune evasion through PD-L1 upregulation 5. CBX1 also contributes to pituitary tumor progression as a direct target of tumor-suppressive miR-205-5p 6. Clinically, heterozygous CBX1 variants in the chr17 cause neurodevelopmental disorder through dominant-negative effects disrupting heterochromatin binding 3. CBX1 emerges as a therapeutic target in cancer and neurological disease.

Sources cited
1
CBX1 upregulation correlates with adverse prognosis and promotes HCC progression and TKI resistance via IGF-1R/AKT/SNAIL pathway
PMID: 38769286
2
CBX1 forms a complex with PurB and Sp3 to mediate H3K27me3-dependent long-term silencing of lineage-specific genes
PMID: 35605661
3
CBX1 is a methyl reader of H3K9me3 marks that functions in heterochromatin formation and gene repression
PMID: 32979540
4
CBX1 identified as a hub gene in neuroblastoma associated with chromatin remodeling and unfavorable prognosis
PMID: 40011918
5
CBX1 is upregulated in metastatic NPC and promotes migration/invasion via H3K9me3-mediated MAP7 repression and immune evasion through PD-L1
PMID: 36310139
6
Heterozygous CBX1 chromodomain variants cause neurodevelopmental disorder through dominant-negative disruption of heterochromatin binding
PMID: 37087635
7
CBX1 is a direct target of miR-205-5p and promotes pituitary tumor cell proliferation and migration
PMID: 30961681
Disease Associationsⓘ20
viral diseaseOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.37Weak
Abnormality of the skeletal systemOpen Targets
0.35Weak
type 2 diabetes mellitusOpen Targets
0.26Weak
Neurodevelopmental disorderOpen Targets
0.22Weak
stomach diseaseOpen Targets
0.21Weak
hypothyroidismOpen Targets
0.19Weak
inflammatory bowel diseaseOpen Targets
0.12Weak
thyroid diseaseOpen Targets
0.12Weak
breast cancerOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.10Weak
neoplasmOpen Targets
0.10Weak
ovarian cancerOpen Targets
0.10Suggestive
gastric cancerOpen Targets
0.10Suggestive
glioblastoma multiformeOpen Targets
0.09Suggestive
endometriosisOpen Targets
0.09Suggestive
diffuse large B-cell lymphomaOpen Targets
0.08Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.08Suggestive
bladder transitional cell carcinomaOpen Targets
0.08Suggestive
diabetes mellitusOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
H3-5Protein interaction100%H3C13Protein interaction100%HDAC1Protein interaction98%BMI1Protein interaction98%SLC25A3Protein interaction98%PCGF2Protein interaction98%
Tissue Expression6 tissues
Brain
100%
Ovary
42%
Heart
30%
Lung
18%
Bone Marrow
12%
Liver
11%
Gene Interaction Network
Click a node to explore
CBX1H3-5H3C13HDAC1BMI1SLC25A3PCGF2
PROTEIN STRUCTURE
Preparing viewer…
PDB2FMM · 1.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.72LoF Tolerant
pLIⓘ
0.29Tolerant
Observed/Expected LoF0.41 [0.25–0.72]
RankingsWhere CBX1 stands among ~20K protein-coding genes
  • #2,137of 20,598
    Most Researched198 · top quartile
  • #5,565of 17,882
    Most Constrained (LOEUF)0.72
Genes detectedCBX1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
CBX1 is involved in hepatocellular carcinoma progression and resistance to sorafenib and lenvatinib via IGF-1R/AKT/SNAIL signaling pathway.
PMID: 38769286
Hepatol Int · 2024
1.00
2
A novel Cbx1, PurB, and Sp3 complex mediates long-term silencing of tissue- and lineage-specific genes.
PMID: 35605661
J Biol Chem · 2022
0.90
3
Biological functions of chromobox (CBX) proteins in stem cell self-renewal, lineage-commitment, cancer and development.
PMID: 32979540
Bone · 2021
0.80
4
Proteomic analysis reveals chromatin remodeling as a potential therapeutical target in neuroblastoma.
PMID: 40011918
J Transl Med · 2025
0.70
5
Role of HP1β during spermatogenesis and DNA replication.
PMID: 32651609
Chromosoma · 2020
0.68