Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about PFN1: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.
Actin-binding protein regulating cytoskeletal dynamics, mutations linked to familial ALS pathogenesis
| Gene Symbol | PFN1 |
| Full Name | Profilin 1 |
| Chromosome | 17p13.3 |
| Protein Family | Profilin family |
| Function | regulating cytoskeletal dynamics |
| Molecular Weight | 15 kDa |
| Amino Acids | 140 aa |
| Exons | 4 |
| Pathways | Chaperone |
| UniProt ID | [P07737](https://www.uniprot.org/uniprot/P07737) |
| Ensembl ID | ENSG00000108518 |
| OMIM | 176610 |
| GeneCards | PFN1 |
| Human Protein Atlas | PFN1 |
| Actin-binding site | Interacts with G-actin (monomeric actin) |
| Associated Diseases | Als, Neurodegeneration, disease |
| Interactions | DNAJB6, ALS |
| SciDEX Hypotheses | Profilin-1 Cytoskeletal Checkpoint Enhancement |
| KG Connections | 35 knowledge graph edges |
| Databases | GeneCardsNCBI GeneHPASTRING |
Knowledge base pages for this entity
flowchart TD
N0["PFN1"]
N1["Als"]
N0 -->|"associated with"| N1
N2["Neurodegeneration"]
N0 -->|"contributes to"| N2
N0 -->|"stabilizes"| N2
N3["ALS"]
N0 -->|"associated with"| N3
N4["GAIN"]
N0 -->|"associated with"| N4
N5["AND"]
N0 -->|"expressed in"| N5
N6["Protein Aggregation"]
N0 -->|"contributes to"| N6
N7["DNAJB6"]
N7 -->|"activates"| N0
N4 -->|"associated with"| N0
N8["NEURODEGENERATION"]
N8 -->|"contributes to"| N0
N3 -->|"associated with"| N0
N9["Spinal Cord"]
N0 -->|"expressed in"| N9
N10["disease"]
N0 -->|"associated with"| N10
N0 -->|"associated with"| N6
classDef gene fill:#1a3a2a,stroke:#4caf50,color:#e0e0e0
classDef protein fill:#1a2a3a,stroke:#4fc3f7,color:#e0e0e0
classDef disease fill:#3a1a1a,stroke:#ef5350,color:#e0e0e0
classDef pathway fill:#2a1a3a,stroke:#ce93d8,color:#e0e0e0
classDef mechanism fill:#2a2a1a,stroke:#ffd54f,color:#e0e0e0
class N1 disease
class N2 disease
class N3 gene
class N4 gene
class N5 gene
class N6 pathway
class N7 gene
class N8 gene
class N10 disease| Target | Relation | Type | Str |
|---|---|---|---|
| Cytoskeletal Checkpoint | regulates | mechanism | 0.80 |
| Als | associated_with | disease | 0.65 |
| Neurodegeneration | contributes_to | disease | 0.65 |
| Neurodegeneration | stabilizes | disease | 0.65 |
| GAIN | associated_with | gene | 0.60 |
| protein misfolding | implicated_in | process | 0.60 |
| neurodegeneration | associated_with | disease | 0.60 |
| ALS | associated_with | gene | 0.60 |
| AND | expressed_in | gene | 0.60 |
| Protein Aggregation | contributes_to | pathway | 0.60 |
| Spinal Cord | expressed_in | brain_region | 0.55 |
| DNAJB6 | activates | gene | 0.50 |
| disease | associated_with | disease | 0.50 |
| Protein Aggregation | associated_with | process | 0.50 |
| Chaperone | activates | pathway | 0.50 |
| Neurodegeneration | associated_with | disease | 0.50 |
| cytoskeletal_checkpoints | controls | pathway | 0.50 |
| TNFRSF25 | co_associated_with | gene | 0.40 |
| Source | Relation | Type | Str |
|---|---|---|---|
| h-cd49366c | targets_gene | hypothesis | 0.90 |
| Aging | inhibits | mechanism | 0.70 |
| DNAJB6 | activates | gene | 0.60 |
| GAIN | associated_with | gene | 0.60 |
| NEURODEGENERATION | contributes_to | gene | 0.60 |
| ALS | associated_with | gene | 0.60 |
| ALS | expressed_in | gene | 0.60 |
| ALS | interacts_with | gene | 0.60 |
| DNAJB6 | co_expressed_with | gene | 0.50 |
| Neurodegeneration | associated_with | disease | 0.50 |
| aging | downregulates | process | 0.50 |
| CXCL10 | co_associated_with | gene | 0.40 |
| AP1S1 | co_associated_with | gene | 0.40 |
| CGAS, STING1 | co_associated_with | gene | 0.40 |
| Cell-type specific vulnerability markers | co_associated_with | gene | 0.40 |
| Mitochondrial respiratory complexes and inflammatory cytokine receptors | co_associated_with | gene | 0.40 |
| h-cd49366c | targets | hypothesis | 0.40 |
Hypotheses where this entity is a therapeutic target
| Hypothesis | Score | Disease | Analysis |
|---|---|---|---|
| Profilin-1 Cytoskeletal Checkpoint Enhancement | 0.370 | neurodegeneration | Gene expression changes in aging mouse b |
Scientific analyses that reference this entity
neurodegeneration | 2026-04-03 | 34 hypotheses Top: 0.692
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| Silibinin inhibits F-actin assembly leading to G2/M cell cycle arrest in human b [PMID:41349910] | Fu J, Liu S, Zhao R, Liu W, Hayashi T et | Biochem Pharmacol | 2026 | 0 |
| Small molecule intervention of actin-binding protein profilin1 reduces tumor ang [PMID:41386296] | Gau D, Chawla P, Xu K, Welling N, Antone | J Biol Chem | 2026 | 0 |
| F-Box and Leucine-Rich Repeat Protein 4 (FBXL4) Maintains Sarcomere Integrity an [PMID:41589689] | Li X, He X, Hao X, Zhang Y, Zhao X et al | Adv Sci (Weinh) | 2026 | 0 |
| APOE4-driven T cell dysregulation in Alzheimer's disease: single-cell genomics a [PMID:41673758] | Zheng D, Gu J, Nao J, Sun M, Dong X | J Neuroinflammation | 2026 | 0 |
| Proteomic analysis of plasma extracellular vesicles for predicting acute kidney [PMID:41720883] | Li J, Xu L, Liu Y, Liu X, Li X et al. | Sci Rep | 2026 | 0 |
| Profillin-1 and Transgelin-2: Actin Binding Proteins Expression in Early and Adv [PMID:41911947] | Shahid MA, Mushtaq S, Khan A, Naseeb U, | Cancer Rep (Hoboken) | 2026 | 0 |