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26 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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BANF1
barrier to autointegration nuclear assembly factor 1
Chromosome 11 · 11q13.1
NCBI Gene: 8815Ensembl: ENSG00000175334.9HGNC: HGNC:17397UniProt: O75531
205PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmnucleoplasmprotein bindingidentical protein bindingNestor-Guillermo progeria syndromeHIV infectionneurodegenerative diseaseosteoarthritis, hip
✦AI Summary

BANF1 (Barrier to Autointegration Factor 1) is a nuclear envelope protein that plays critical roles in chr11 organization, genome stability, and immune regulation. The protein functions as a homodimer that binds non-specifically to DNA, compacting chr11 through a looping process 1. BANF1 is essential for maintaining nuclear envelope integrity and proper chr11 structure, with loss of function resulting in aberrant nuclear morphology 1. In embryonic stem cells, BANF1 is required for self-renewal and survival, associating with the master regulator Sox2 2. The protein also serves as a natural inhibitor of the cGAS-STING innate immune pathway by preventing cGAS activation on genomic DNA 3. Disease-wise, mutations in BANF1 cause Néstor-Guillermo Progeria Syndrome, a severe premature aging disorder 41. Additionally, BANF1 is upregulated in various cancers including esophageal and colorectal cancer, where it promotes tumor progression and correlates with poor prognosis 563. Therapeutically, targeting BANF1 in tumors activates antitumor immunity via cGAS-STING signaling and enhances response to immunotherapy, suggesting its potential as a cancer therapeutic target 3.

Sources cited
1
BANF1 functions as a homodimer that binds DNA non-specifically and is involved in chromatin compaction and nuclear envelope integrity
PMID: 34820387
2
BANF1 is required for embryonic stem cell self-renewal and survival, and associates with Sox2
PMID: 21750191
3
BANF1 inhibits cGAS-STING signaling and targeting it activates antitumor immunity
PMID: 37620043
4
BANF1 mutations cause Néstor-Guillermo Progeria Syndrome with accelerated aging phenotypes
PMID: 39367234
5
BANF1 is upregulated in esophageal cancer and serves as a potential therapeutic target
PMID: 28298069
6
BANF1 promotes colorectal cancer progression and correlates with poor prognosis
PMID: 40384864
Disease Associationsⓘ21
Nestor-Guillermo progeria syndromeOpen Targets
0.59Moderate
HIV infectionOpen Targets
0.58Moderate
neurodegenerative diseaseOpen Targets
0.44Moderate
osteoarthritis, hipOpen Targets
0.14Weak
total hip arthroplastyOpen Targets
0.14Weak
neoplasmOpen Targets
0.10Weak
triple-negative breast cancerOpen Targets
0.09Suggestive
neuroblastomaOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
head and neck squamous cell carcinomaOpen Targets
0.07Suggestive
infectionOpen Targets
0.07Suggestive
gastric cancerOpen Targets
0.07Suggestive
cancerOpen Targets
0.06Suggestive
Alzheimer diseaseOpen Targets
0.06Suggestive
Hallux valgusOpen Targets
0.05Suggestive
placental retentionOpen Targets
0.05Suggestive
Ewing sarcomaOpen Targets
0.04Suggestive
esophageal squamous cell carcinomaOpen Targets
0.04Suggestive
multiple sclerosisOpen Targets
0.04Suggestive
cervical cancerOpen Targets
0.04Suggestive
Nestor-Guillermo progeria syndromeUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LMNB2Protein interaction100%EHMT2Protein interaction100%PHF10Protein interaction99%SMARCC2Protein interaction99%SMARCD1Protein interaction99%SUN1Protein interaction98%
Tissue Expression6 tissues
Brain
100%
Ovary
86%
Liver
81%
Heart
81%
Lung
61%
Bone Marrow
35%
Gene Interaction Network
Click a node to explore
BANF1LMNB2EHMT2PHF10SMARCC2SMARCD1SUN1
PROTEIN STRUCTURE
Preparing viewer…
PDB7NDY · 1.44 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.29Highly Constrained
pLIⓘ
0.99Intolerant
Observed/Expected LoF0.00 [0.00–0.29]
RankingsWhere BANF1 stands among ~20K protein-coding genes
  • #2,037of 20,598
    Most Researched205 · top 10%
  • #1,027of 17,882
    Most Constrained (LOEUF)0.29 · top 10%
Genes detectedBANF1
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
A disordered region controls cBAF activity via condensation and partner recruitment.
PMID: 37788668
Cell · 2023
1.00
2
BAF complex vulnerabilities in cancer demonstrated via structure-based PROTAC design.
PMID: 31178587
Nat Chem Biol · 2019
0.90
3
Inhibition of tumor intrinsic BANF1 activates antitumor immune responses via cGAS-STING and enhances the efficacy of PD-1 blockade.
PMID: 37620043
J Immunother Cancer · 2023
0.80
4
A human progeria-associated BAF-1 mutation modulates gene expression and accelerates aging in C. elegans.
PMID: 39367234
EMBO J · 2024
0.70
5
Barrier-to-Autointegration Factor 1 Protects against a Basal cGAS-STING Response.
PMID: 32156810
mBio · 2020
0.68