DBN1 (Drebrin 1)
Actin-binding protein involved in neuronal development and synaptic plasticity
Gene Information Card
| Symbol | DBN1 |
|---|---|
| Full Name | Drebrin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q35.3 |
| NCBI Gene ID | 1627 ncbi.nlm.nih.gov/gene/1627 |
| Ensembl ID | ENSG00000113578 |
| UniProt ID | Q16643 |
| OMIM ID | 126660 |
| HGNC ID | 2697 |
| Aliases | D0S117E, drebrin, DBN |
Description
DBN1 encodes drebrin 1, a cytoplasmic actin-binding protein that plays a key role in neuronal development, including neurite outgrowth, dendritic spine morphogenesis, and synaptic plasticity. It is also expressed in non-neuronal tissues and has been implicated in cancer cell migration and invasion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | DBN1 overexpression promotes cell migration and invasion via actin cytoskeleton remodeling | PMID: 25605248 |
| Colorectal cancer | DBN1 upregulation correlates with poor prognosis and metastasis | PMID: 27323851 |
| Alzheimer's disease | DBN1 loss in dendritic spines contributes to synaptic dysfunction | PMID: 20074512 |
| Schizophrenia | DBN1 expression changes observed in postmortem brain studies | PMID: 21743477 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebral cortex | 12.5 | High |
| Hippocampus | 15.2 | High |
| Cerebellum | 8.9 | Medium |
| Heart | 3.1 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 14.8 | Neuronal model |
| HeLa (cervical carcinoma) | 6.2 | Epithelial |
| MCF7 (breast cancer) | 9.1 | Overexpressed in cancer |
| HEK293 (embryonic kidney) | 4.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Unknown functional effect |
| c.567delA (p.Glu189fs) | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to truncated protein likely impair actin-binding and neuronal function.
Gain of Function (GOF)
Not well documented; overexpression in cancer may confer gain-of-function in cell motility.
Dominant Negative (DN)
No known dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • actin filament binding |
| • structural constituent of cytoskeleton | • synaptic plasticity |
| • dendritic spine morphogenesis | • neuronal development |
Pathways
• Actin cytoskeleton regulation
• Synaptic signaling
• Neuronal development
Protein Summary
Drebrin 1 is a 651-amino acid actin-binding protein that stabilizes actin filaments and regulates cytoskeletal dynamics. It is highly expressed in the brain, particularly in dendritic spines, and is essential for synaptic plasticity. In cancer, DBN1 overexpression enhances cell motility and invasion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DBN1 Knockout HEK293 Cell Line | EDJ-KQ4423 | Human | 1627 | Details Get a Quote |
| DBN1 Knockout A-549 Cell Line | EDJ-KQ26952 | Human | 1627 | Details Get a Quote |
| DBN1 Knockout HCT 116 Cell Line | EDJ-KQ26953 | Human | 1627 | Details Get a Quote |
| DBN1 Knockout HeLa Cell Line | EDJ-KQ26954 | Human | 1627 | Details Get a Quote |
