BANF1 Gene - Barrier to Autointegration Factor 1
BANF1: A Key Regulator of Nuclear Assembly and Chromatin Organization
Gene Information Card
| Symbol | BANF1 |
|---|---|
| Full Name | Barrier to Autointegration Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 8815 ncbi.nlm.nih.gov/gene/8815 |
| Ensembl ID | ENSG00000134086 |
| UniProt ID | O75531 |
| OMIM ID | 603811 |
| HGNC ID | 17397 |
| Aliases | BAF, BAF1, NGP1 |
Description
BANF1 encodes barrier to autointegration factor 1 (BAF), a conserved protein that binds to double-stranded DNA and plays a critical role in nuclear assembly, chromatin organization, and retroviral integration. BAF interacts with LEM domain proteins (e.g., LAP2, emerin, MAN1) and is essential for post-mitotic nuclear envelope reformation. Mutations in BANF1 cause Nestor-Guillermo progeria syndrome (NGPS), a rare premature aging disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nestor-Guillermo progeria syndrome (NGPS) | Homozygous missense mutation (p.Ala12Thr) reduces BAF stability and impairs nuclear assembly, leading to progeroid features. | OMIM #614008; PMID 21983783 |
| Progeria (Hutchinson-Gilford progeria syndrome) | Differential diagnosis; BANF1 mutations not causative but BAF dysfunction may contribute to nuclear lamina defects. | OMIM #176670; PMID 21983783 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.4 | High |
| Lymph node | 20.1 | Medium |
| Brain | 15.3 | Medium |
| Heart | 12.7 | Medium |
| Liver | 10.5 | Medium |
| Kidney | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 25.6 | Cervical adenocarcinoma |
| HEK 293 | 22.3 | Embryonic kidney |
| K562 | 18.9 | Leukemia |
| HepG2 | 15.4 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.34G>A (p.Ala12Thr) | Missense | Rare (found in NGPS families) | Reduces BAF protein stability and impairs nuclear assembly; causes Nestor-Guillermo progeria syndrome. |
| c.1A>G (p.Met1?) | Start loss | Very rare | Likely loss of function; clinical significance unknown. |
Mutation functional classification
Loss of Function (LOF)
p.Ala12Thr reduces BAF stability and function, leading to nuclear assembly defects.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; NGPS is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • protein heterodimerization activity |
| • nuclear envelope reassembly | • chromatin organization |
| • viral integration |
Pathways
• Nuclear envelope reassembly
• Chromatin remodeling
• HIV integration
Protein Summary
Barrier to autointegration factor 1 (BAF) is a 10 kDa protein that binds DNA non-specifically and interacts with LEM domain proteins. It is essential for nuclear envelope reformation after mitosis and for chromatin organization. BAF also facilitates retroviral DNA integration by preventing autointegration. The p.Ala12Thr mutation causes Nestor-Guillermo progeria syndrome.
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