FMNL1 Gene (Formin-like 1)
Key regulator of cytoskeletal dynamics and immune cell function
Gene Information Card
| Symbol | FMNL1 |
|---|---|
| Full Name | Formin-like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 752 ncbi.nlm.nih.gov/gene/752 |
| Ensembl ID | ENSG00000108924 |
| UniProt ID | O95466 |
| OMIM ID | 604656 |
| HGNC ID | 3768 |
| Aliases | C17orf1, FHOD3, FMNL, KW-13, formin-like protein 1 |
Description
FMNL1 (Formin-like 1) is a member of the formin family of actin-nucleating proteins. It regulates actin cytoskeleton dynamics, cell polarity, and cytokinesis. FMNL1 is predominantly expressed in hematopoietic cells and plays a critical role in immune cell migration, phagocytosis, and T-cell activation. Alternative splicing generates multiple isoforms with distinct functions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | Overexpression of FMNL1 promotes leukemogenesis by enhancing cell proliferation and migration via Rho GTPase signaling. | COSMIC, PMID: 23542280 |
| Chronic lymphocytic leukemia | FMNL1 is upregulated and associated with disease progression; may influence B-cell receptor signaling. | COSMIC, PMID: 25605248 |
| Colorectal cancer | FMNL1 overexpression correlates with poor prognosis; promotes invasion through actin remodeling. | COSMIC, PMID: 27323851 |
| Breast cancer | FMNL1 expression is elevated in metastatic subtypes; contributes to epithelial-mesenchymal transition. | COSMIC, PMID: 28431248 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Lymph node | 9.8 | Medium |
| Whole blood | 8.1 | Low |
| Lung | 3.4 | Low |
| Brain | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.3 | High expression |
| HL-60 (leukemia) | 14.1 | High expression |
| HeLa (cervical) | 2.1 | Low expression |
| A549 (lung) | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Gly12Val | Missense | <0.1% | Unknown; predicted to alter actin-binding domain |
| p.Arg78* | Nonsense | <0.1% | Loss of function; truncated protein |
| p.Glu249Lys | Missense | <0.1% | Unknown; located in FH1 domain |
| p.Leu456Pro | Missense | <0.1% | Unknown; may affect dimerization |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg78*) lead to truncated protein lacking FH2 domain, impairing actin nucleation.
Gain of Function (GOF)
Not well characterized; overexpression in cancers suggests potential gain-of-function via increased actin polymerization.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • actin cytoskeleton organization | • actin filament polymerization |
| • cell migration | • cytokinesis |
| • Rho protein signal transduction | • cell polarity |
| • phagocytosis |
Pathways
• Rho GTPase cycle (R-HSA-194840)
• Signaling by Rho GTPases (R-HSA-194315)
• Actin nucleation by formins (R-HSA-5663222)
Protein Summary
FMNL1 encodes a 1098-amino-acid protein containing formin homology domains FH1 and FH2, which mediate actin nucleation and processive elongation. It also has a diaphanous autoregulatory domain (DAD) and a GTPase-binding domain (GBD). FMNL1 is autoinhibited in the cytosol and activated by Rho GTPases (e.g., RhoC, RhoD) to promote linear actin filament assembly. It localizes to the leading edge of migrating cells and the cleavage furrow during cytokinesis. Isoform 2 lacks the FH2 domain and may act as a dominant-negative regulator.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FMNL1 Knockout HEK293 Cell Line | EDJ-KQ2652 | Human | 752 | Details Get a Quote |
| FMNL1 Knockout HCT 116 Cell Line | EDJ-KQ22056 | Human | 752 | Details Get a Quote |
| FMNL1 Knockout A-549 Cell Line | EDJ-KQ23424 | Human | 752 | Details Get a Quote |
| FMNL1 Knockout HeLa Cell Line | EDJ-KQ23426 | Human | 752 | Details Get a Quote |
