CFL1: Cofilin 1 - Actin Dynamics Regulator
Key player in actin filament depolymerization and cell motility
Gene Information Card
| Symbol | CFL1 |
|---|---|
| Full Name | Cofilin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 1072 ncbi.nlm.nih.gov/gene/1072 |
| Ensembl ID | ENSG00000172757 |
| UniProt ID | P23528 |
| OMIM ID | 601424 |
| HGNC ID | 1874 |
| Aliases | CFL, HEL-S-15, cofilin-1 |
Description
CFL1 encodes cofilin 1, a small actin-binding protein that severs and depolymerizes actin filaments, regulating cytoskeletal dynamics essential for cell motility, division, and morphogenesis. It is widely expressed and involved in neuronal development, immune response, and cancer metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Dysregulation of cofilin activity promotes invasion and metastasis | NCBI Gene, COSMIC |
| Alzheimer disease | Altered cofilin-actin rods contribute to synaptic dysfunction | NCBI Gene, OMIM |
| Intellectual disability | CFL1 mutations impair neuronal migration and dendritic spine formation | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 58.2 | High |
| Heart | 42.1 | High |
| Liver | 35.6 | Medium |
| Lung | 28.9 | Medium |
| Kidney | 31.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 62.5 | Cervical cancer cell line |
| A549 | 55.3 | Lung cancer cell line |
| HEK293 | 48.7 | Embryonic kidney cells |
| SH-SY5Y | 70.1 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.274G>A (p.Gly92Ser) | Missense | <0.01% | Reduced actin depolymerization activity |
| c.328C>T (p.Arg110Cys) | Missense | <0.01% | Impaired cofilin function, linked to intellectual disability |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Gly92Ser) reduce actin-severing activity, impairing cytoskeletal dynamics.
Gain of Function (GOF)
Not well documented; overexpression in cancers may enhance cell motility.
Dominant Negative (DN)
p.Arg110Cys may act dominant-negative by forming inactive cofilin-actin complexes.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • actin filament depolymerization |
| • actin cytoskeleton organization | • cell motility |
| • neuron projection development |
Pathways
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• Focal adhesion (KEGG: hsa04510)
• Axon guidance (KEGG: hsa04360)
Protein Summary
Cofilin 1 is a 166-amino acid protein that binds to actin filaments, promoting severing and depolymerization. It is regulated by phosphorylation at Ser3 by LIM kinases and dephosphorylation by slingshot phosphatases. The protein is essential for cell migration, cytokinesis, and neuronal plasticity.
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