FMN1 Gene (Formin 1)
Key regulator of actin cytoskeleton dynamics and cell polarity
Gene Information Card
| Symbol | FMN1 |
|---|---|
| Full Name | Formin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q13.3 |
| NCBI Gene ID | 342184 ncbi.nlm.nih.gov/gene/342184 |
| Ensembl ID | ENSG00000160310 |
| UniProt ID | Q68DA7 |
| OMIM ID | 136535 |
| HGNC ID | 3768 |
| Aliases | FMN, LD, limb deformity protein |
Description
FMN1 (Formin 1) encodes a member of the formin family of proteins that regulate actin cytoskeleton dynamics. Formin 1 acts as a nucleator of unbranched actin filaments and is involved in cell polarity, cytokinesis, and embryonic development. Mutations in FMN1 are associated with limb deformity phenotypes in mice and may contribute to human developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Limb deformity (mouse model) | Disruption of FMN1 leads to abnormal limb patterning due to defective actin polymerization in the apical ectodermal ridge. | OMIM #136535; PMID: 7914451 |
| Split-hand/foot malformation (possible) | FMN1 variants may disrupt actin dynamics in limb bud development, though human evidence is limited. | ClinVar; PMID: 25344692 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain (cerebellum) | 8.7 | Low |
| Kidney | 6.5 | Low |
| Lung | 4.2 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.4 | Moderate expression |
| HeLa | 9.8 | Low expression |
| K562 | 3.2 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.274C>T (p.Arg92*) | Nonsense | <0.01% | Loss of function; predicted to cause nonsense-mediated decay |
| c.1021G>A (p.Gly341Arg) | Missense | <0.01% | Uncertain significance; may affect actin binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants that truncate the FH2 domain abolish actin nucleation activity.
Gain of Function (GOF)
Not reported in FMN1.
Dominant Negative (DN)
Missense mutations in the FH2 domain may interfere with wild-type formin dimerization.
View complete mutation data：
Gene Ontology (GO)
| • actin cytoskeleton organization | • actin filament polymerization |
| • cell polarity | • cytokinesis |
| • embryonic limb morphogenesis | • protein homodimerization activity |
| • actin binding |
Pathways
• Actin nucleation by formins
• Regulation of actin cytoskeleton
• Developmental biology (limb formation)
Protein Summary
Formin 1 is a 1249-amino acid protein containing a formin homology 2 (FH2) domain that nucleates actin filaments and a formin homology 1 (FH1) domain that binds profilin. It localizes to the cytoplasm and cell cortex, regulating actin cable assembly during cell division and migration. Alternative splicing generates multiple isoforms with tissue-specific functions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FMN1 Knockout HEK293 Cell Line | EDJ-KQ13492 | Human | 342184 | Details Get a Quote |
| FMN1 Knockout A-549 Cell Line | EDJ-KQ43098 | Human | 342184 | Details Get a Quote |
| FMN1 Knockout HeLa Cell Line | EDJ-KQ59723 | Human | 342184 | Details Get a Quote |
| FMN1 Knockout HCT 116 Cell Line | EDJ-KQ76569 | Human | 342184 | Details Get a Quote |
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