DNMBP: Dynamin Binding Protein
A scaffold protein involved in vesicle trafficking and cell signaling
Gene Information Card
| Symbol | DNMBP |
|---|---|
| Full Name | Dynamin Binding Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 10q24.32 |
| NCBI Gene ID | 23268 ncbi.nlm.nih.gov/gene/23268 |
| Ensembl ID | ENSG00000119969 |
| UniProt ID | Q6XZF7 |
| OMIM ID | 611383 |
| HGNC ID | 29336 |
| Aliases | Tuba, KIAA1010 |
Description
DNMBP (dynamin binding protein), also known as Tuba, encodes a scaffold protein that contains an N-terminal BAR domain, a C-terminal SH3 domain, and multiple proline-rich regions. It functions as a guanine nucleotide exchange factor (GEF) for CDC42 and interacts with dynamin, regulating endocytosis, actin cytoskeleton dynamics, and vesicle trafficking. The gene is expressed in various tissues and is implicated in neuronal development and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Overexpression of DNMBP may promote tumor cell migration and invasion via CDC42 activation | COSMIC; PMID: 23542379 |
| Breast cancer | DNMBP amplification and overexpression linked to poor prognosis and metastasis | COSMIC; PMID: 25691885 |
| Hepatocellular carcinoma | Upregulation of DNMBP associated with increased cell proliferation and migration | PMID: 27626308 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 11.4 | Embryonic kidney cells |
| HeLa | 9.8 | Cervical cancer cells |
| A549 | 7.2 | Lung cancer cells |
| MCF7 | 6.5 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.2% | p.Pro412Ser; unknown functional impact |
| c.567_568insA | Frameshift | 0.1% | Predicted loss of function |
| c.890G>A | Nonsense | 0.05% | p.Trp297*; premature truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of protein function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not documented.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005085 – guanyl-nucleotide exchange factor activity | • GO:0005546 – phosphatidylinositol-4 |
| • 5-bisphosphate binding | • GO:0016197 – endocytosis |
| • GO:0030036 – actin cytoskeleton organization | • GO:0035023 – regulation of Rho protein signal transduction |
Pathways
• CDC42 signaling pathway
• Endocytosis
• Regulation of actin cytoskeleton
Protein Summary
The DNMBP protein (Tuba) is a 1577-amino acid scaffold that acts as a guanine nucleotide exchange factor (GEF) for CDC42. It contains a BAR domain for membrane binding, multiple SH3 domains for protein interactions, and a proline-rich region. Tuba localizes to sites of endocytosis and regulates dynamin-mediated vesicle scission, as well as actin polymerization at the cell cortex. Its expression is enriched in the brain and testis, and dysregulation is linked to cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNMBP Knockout HEK293 Cell Line | EDJ-KQ7934 | Human | 23268 | Details Get a Quote |
| DNMBP Knockout A-549 Cell Line | EDJ-KQ33588 | Human | 23268 | Details Get a Quote |
| DNMBP Knockout HCT 116 Cell Line | EDJ-KQ33589 | Human | 23268 | Details Get a Quote |
| DNMBP Knockout HeLa Cell Line | EDJ-KQ33590 | Human | 23268 | Details Get a Quote |
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