TWF1 (Twinfilin Actin Binding Protein 1)
A key regulator of actin dynamics, involved in cytoskeletal organization, cell migration, and linked to cancer and developmental disorders.
Gene Information Card
| Symbol | TWF1 |
|---|---|
| Full Name | Twinfilin Actin Binding Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q12 |
| NCBI Gene ID | 5756 ncbi.nlm.nih.gov/gene/5756 |
| Ensembl ID | ENSG00000111247 |
| UniProt ID | Q12792 |
| OMIM ID | 601477 |
| HGNC ID | 9620 |
| Aliases | PTK9, A6, twinfilin-1 |
Description
TWF1 encodes twinfilin-1, a highly conserved actin-binding protein that regulates actin dynamics by sequestering actin monomers and capping actin filament barbed ends. It plays a critical role in cell motility, morphogenesis, and endocytosis. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Dysregulation of actin dynamics; altered TWF1 expression affects cell migration and invasion. | COSMIC; PubMed studies |
| Developmental disorders | Potential role in neuronal migration and cytoskeletal organization; mutations implicated in rare cases. | ClinVar; OMIM |
| Immunodeficiency | TWF1 deficiency may impair immune cell motility and function. | NCBI Gene; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 18.5 | High |
| Brain | 12.3 | Medium |
| Lung | 9.8 | Medium |
| Liver | 6.2 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| A549 | 11.7 | Lung carcinoma cell line |
| HEK293 | 10.4 | Embryonic kidney cell line |
| K562 | 8.9 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.214G>A (p.Gly72Arg) | Missense | <0.01% | Unknown functional impact; reported in ClinVar |
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Potential loss of actin binding; ClinVar |
| c.631_632insA | Frameshift | <0.01% | Predicted loss of function; COSMIC |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of twinfilin-1 function, impairing actin regulation.
Gain of Function (GOF)
No gain-of-function mutations have been characterized for TWF1.
Dominant Negative (DN)
Missense mutations in the actin-binding domain may exert dominant-negative effects by sequestering actin monomers without proper regulation.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • actin filament binding |
| • actin monomer sequestration | • barbed-end actin filament capping |
| • cytoskeleton | • cell cortex |
| • cytoplasm | • cell migration |
| • actin cytoskeleton organization |
Pathways
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• Fc gamma R-mediated phagocytosis (KEGG: hsa04666)
• Endocytosis (KEGG: hsa04144)
Protein Summary
Twinfilin-1 is a 40 kDa protein that binds to ADP-bound actin monomers and caps the barbed ends of actin filaments, thereby regulating actin turnover. It is essential for rapid actin dynamics in motile cells and is highly expressed in tissues with active cytoskeletal remodeling, such as testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TWF1 Knockout HEK293 Cell Line | EDJ-KQ50548 | Human | 5756 | Details Get a Quote |
| TWF1 Knockout HeLa Cell Line | EDJ-KQ54265 | Human | 5756 | Details Get a Quote |
| TWF1 Knockout A-549 Cell Line | EDJ-KQ62757 | Human | 5756 | Details Get a Quote |
| TWF1 Knockout HCT 116 Cell Line | EDJ-KQ71226 | Human | 5756 | Details Get a Quote |
