PFN1 Gene - Profilin 1
Actin-binding protein involved in cytoskeletal dynamics and amyotrophic lateral sclerosis
Gene Information Card
| Symbol | PFN1 |
|---|---|
| Full Name | Profilin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.2 |
| NCBI Gene ID | 5216 ncbi.nlm.nih.gov/gene/5216 |
| Ensembl ID | ENSG00000108518 |
| UniProt ID | P07737 |
| OMIM ID | 176610 |
| HGNC ID | 8881 |
| Aliases | ALS18, profilin-1 |
Description
PFN1 encodes profilin 1, a small actin-binding protein that regulates actin polymerization by sequestering monomeric actin and promoting nucleotide exchange. It is ubiquitously expressed and plays critical roles in cell motility, cytoskeletal dynamics, and signaling. Mutations in PFN1 are associated with amyotrophic lateral sclerosis type 18 (ALS18).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amyotrophic lateral sclerosis 18 (ALS18) | Dominant-negative mutations impair actin polymerization and cause motor neuron degeneration | OMIM #176610; ClinVar |
| Prostate cancer | Altered profilin expression may affect cell migration and invasion | COSMIC; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 22.5 | Medium |
| Heart | 18.3 | Medium |
| Liver | 15.7 | Medium |
| Skeletal muscle | 12.1 | Medium |
| Kidney | 20.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 25.1 | Cervical carcinoma |
| HEK293 | 22.8 | Embryonic kidney |
| A549 | 19.6 | Lung carcinoma |
| MCF7 | 17.3 | Breast carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.211G>A (p.Glu71Lys) | Missense | Rare | Dominant-negative; disrupts actin binding |
| c.272C>T (p.Thr91Met) | Missense | Rare | Impaired profilin-actin interaction |
| c.346G>A (p.Gly116Ser) | Missense | Rare | Reduced actin polymerization |
Mutation functional classification
Loss of Function (LOF)
Not clearly established; most ALS mutations are dominant-negative rather than complete loss.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
ALS-associated mutations (e.g., p.Glu71Lys) act via dominant-negative mechanism, disrupting actin dynamics.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Actin cytoskeleton regulation (Reactome R-HSA-5663213)
• Signaling by Rho GTPases (Reactome R-HSA-194315)
Protein Summary
Profilin 1 is a 140-amino acid protein that binds to monomeric actin (G-actin) and promotes the exchange of ADP for ATP, facilitating actin polymerization. It also interacts with polyproline sequences, linking actin dynamics to signaling pathways. Mutations in PFN1 cause ALS18 through a dominant-negative mechanism that impairs cytoskeletal function in motor neurons.
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