Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5216
MIM: 176610
HGNC: 8881
Ensembl: ENSG00000108518
Variants:
dbSNP: 5216
ClinVar: 5216
TCGA: ENSG00000108518
COSMIC: PFN1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000108518 | ENST00000225655 | P07737 |
| ENSG00000108518 | ENST00000572383 | I3L3D5 |
| ENSG00000108518 | ENST00000574872 | K7EJ44 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38141770 | 2024 | Actin-binding protein profilin1 is an important determinant of cellular phosphoinositide control. | 1 |
| 38509062 | 2024 | Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia. | 0 |
| 38141770 | 2024 | Actin-binding protein profilin1 is an important determinant of cellular phosphoinositide control. | 1 |
| 38509062 | 2024 | Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia. | 0 |
| 36599901 | 2023 | Profilin 1 deficiency drives mitotic defects and reduces genome stability. | 1 |
| 37130459 | 2023 | ALS-causing hPFN1 mutants differentially disrupt LLPS of FUS prion-like domain. | 0 |
| 37164274 | 2023 | Profilin1 Regulates Trophoblast Invasion and Macrophage Differentiation. | 0 |
| 37401976 | 2023 | Association of PFN1 Gene Polymorphisms with Bone Mineral Density, Bone Turnover Markers, and Osteoporotic Fractures in Chinese Population. | 0 |
| 37847555 | 2023 | Profilin1 is required for prevention of mitotic catastrophe in murine and human glomerular diseases. | 3 |
| 36599901 | 2023 | Profilin 1 deficiency drives mitotic defects and reduces genome stability. | 1 |
| 37130459 | 2023 | ALS-causing hPFN1 mutants differentially disrupt LLPS of FUS prion-like domain. | 0 |
| 37164274 | 2023 | Profilin1 Regulates Trophoblast Invasion and Macrophage Differentiation. | 0 |
| 37401976 | 2023 | Association of PFN1 Gene Polymorphisms with Bone Mineral Density, Bone Turnover Markers, and Osteoporotic Fractures in Chinese Population. | 0 |
| 37847555 | 2023 | Profilin1 is required for prevention of mitotic catastrophe in murine and human glomerular diseases. | 3 |
| 34302583 | 2022 | Detection of structural and conformational changes in ALS-causing mutant profilin-1 with hydrogen/deuterium exchange mass spectrometry and bioinformatics techniques. | 1 |
Citation
Dessen P
PFN1 (profilin 1)
Atlas Genet Cytogenet Oncol Haematol. 2003-11-01
Online version: http://atlasgeneticsoncology.org/gene/41695/pfn1
