GENE NAME | PFN1 |
CHROMOSOME | 17 |
ENSEMBL ID | ENSG00000108518 |
ENTREZ ID | 5216 |
UNIPROT ACCESSION NUMBER | P07737 |
GO MOLECULAR FUNCTION | actin monomer binding; protein binding; phosphotyrosine residue binding; adenyl-nucleotide exchange factor activity; RNA binding; actin binding; proline-rich region binding; cadherin binding; phosphatidylinositol-4,5-bisphosphate binding; small GTPase binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa05014; R-HSA-195721; R-HSA-162582; hsa04810; R-HSA-195258; hsa05131; R-HSA-376176; hsa05132; R-HSA-109582; R-HSA-3858494; hsa04015; R-HSA-114608; R-HSA-9675108; R-HSA-422475; R-HSA-194315; R-HSA-1266738; R-HSA-76005; R-HSA-4086400; R-HSA-5663220; R-HSA-76002 |
1 combination linked to PFN1 | OLI968 |
1 variant linked to PFN1 | PFN1:c.-342T>C, |
1 disease linked to PFN1 | Amyotrophic lateral sclerosis |