BANF1

Chr 11AR

barrier to autointegration nuclear assembly factor 1

Also known as: BAF, BCRP1, D14S1460, NGPS

NCBI Gene: 8815ENSG00000175334UniProt: O75531

The protein encoded by this gene was first identified by its ability to protect retroviruses from intramolecular integration and therefore promote intermolecular integration into the host cell genome. The protein forms a homodimer which localizes to both the nucleus and cytoplasm and is specifically associated with chromosomes during mitosis. This protein binds to double stranded DNA in a non-specific manner and also binds to LEM-domain containing proteins of the nuclear envelope. This protein is thought to facilitate nuclear reassembly by binding with both DNA and inner nuclear membrane proteins and thereby recruit chromatin to the nuclear periphery. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Jan 2009]

Primary Disease Associations & Inheritance

Nestor-Guillermo progeria syndromeMIM #614008
AR
45
ClinVar variants
10
Pathogenic / LP
0.65
pLI score
0
Active trials
Clinical Summary— BANF1
🧬
Gene-Disease Validity (ClinGen)
Nestor-Guillermo progeria syndrome · ARLimited

Limited evidence — not for standalone diagnostic reporting

⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.65) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
10 Pathogenic / Likely Pathogenic· 19 VUS of 45 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.87LOEUF
pLI 0.652
Z-score 1.71
OE 0.00 (0.00–0.87)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.43Z-score
OE missense 0.44 (0.32–0.63)
23 obs / 52.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.00 (0.00–0.87)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.44 (0.32–0.63)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.19
0≤1.21.6
LoF obs/exp: 0 / 3.4Missense obs/exp: 23 / 52.0Syn Z: -0.71

ClinVar Variant Classifications

45 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic8
Likely Pathogenic2
VUS19
Likely Benign5
Benign11
8
Pathogenic
2
Likely Pathogenic
19
VUS
5
Likely Benign
11
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
8
0
8
Likely Pathogenic
0
0
2
0
2
VUS
0
0
18
1
19
Likely Benign
0
0
5
0
5
Benign
0
0
10
1
11
Total0043245

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

BANF1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Gene2Phenotype Curations

BANF1-related Nestor-Guillermo progeria syndrome

moderate
ARLoss Of FunctionAltered Gene Product Structure
Dev. Disorders
G2P ↗
missense variantinframe deletioninframe insertion

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Nestor-Guillermo progeria syndrome

MIM #614008

Molecular basis of disorder known

Autosomal recessive
📖
GeneReview available — BANF1
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Inhibition of tumor intrinsic BANF1 activates antitumor immune responses via cGAS-STING and enhances the efficacy of PD-1 blockade.
Wang M et al.·J Immunother Cancer
2023
PYCR1, BANF1, and STARD8 Expression in Gastric Carcinoma: A Clinicopathologic, Prognostic, and Immunohistochemical Study.
Harb OA et al.·Appl Immunohistochem Mol Morphol
2024
Barrier-to-Autointegration Factor 1 Protects against a Basal cGAS-STING Response.
Ma H et al.·mBio
2020
Molecular functions of ANKLE2 and its implications in human disease.
Fishburn AT et al.·Dis Model Mech
2024Review
Néstor-Guillermo Progeria Syndrome: a biochemical insight into Barrier-to-Autointegration Factor 1, alanine 12 threonine mutation.
Paquet N et al.·BMC Mol Biol
2014
Novel missense alleles of SIGMAR1 as tools to understand emerin-dependent gene silencing in response to cocaine.
Arun AS et al.·Exp Biol Med (Maywood)
2019
A De Novo Sequence Variant in Barrier-to-Autointegration Factor Is Associated with Dominant Motor Neuronopathy.
Marcelot A et al.·Cells
2023
An additional case of Néstor-Guillermo progeria syndrome diagnosed in early childhood.
Fisher HG et al.·Am J Med Genet A
2020Case report
Analysis of a rare progeria variant of Barrier-to-autointegration factor in Drosophila connects centromere function to tissue homeostasis.
Duan T et al.·Cell Mol Life Sci
2023
Absence of Nuclear p16 Is a Diagnostic and Independent Prognostic Biomarker in Squamous Cell Carcinoma of the Cervix.
Mendaza S et al.·Int J Mol Sci
2020
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Exploring Virus-Host Interactions Through Combined Proteomic Approaches Identifies BANF1 as a New Essential Factor for African Swine Fever Virus.
Dupré J et al.·Mol Cell Proteomics
2025🔓 Open Access
The inner nuclear membrane protein, Banf1, has an essential role in triple negative breast cancer cell proliferation and survival.
Rose M et al.·Sci Rep
2025🔓 Open Access
VRK1/BANF1/GLI1 Axis Regulates Tumor Development and Progression of Colorectal Cancer.
Wang X et al.·Int J Biol Sci
2025🔓 Open Access
BANF1 is a novel prognostic biomarker linked to immune infiltration in head and neck squamous cell carcinoma.
He Y et al.·Front Immunol
2024🔓 Open Access
Identification of BANF1 as a novel prognostic biomarker in gastric cancer and validation via in-vitro and in-vivo experiments.
Xu Y et al.·Aging (Albany NY)
2024🔓 Open Access
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools