Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol PFN1 contributors: mct/pgu - updated : 19-06-2013
HGNC name profilin 1
HGNC id 8881
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 1365 - 140 - 1995 7758455
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivestomach   highly
Lymphoid/Immunelymph node   highly
Reproductivefemale systemovary  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticplasma   
Connectivebone   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
  • profilin family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton
    intracellular,nucleus
    basic FUNCTION
  • preventing its polymerization to F-actin
  • key factor for dynamic rearrangements of the actin cytoskeleton
  • not required for actomyosin ring formation in dividing chondrocytes but necessary to generate sufficient force for abscission during late cytokinesis
  • regulates vascular endothelial cells migration, invasion and capillary morphogenesis through its interaction with both actin and proline-rich ligands
  • involved in angiotensin II-induced vascular smooth muscle cell proliferation
  • required for glial cell adhesion and radial migration of cerebellar granule neurons
  • functional role for both profilins (PFN1, PFN2) in neuronal nuclei
  • key player to control actin fiber structure, and it is involved in a number of cellular activities such as migration
  • critical molecule for the skeletal development, and this could be at least in part associated with the retardation of cell migration
  • crucial for the conversion of monomeric (G)-actin to filamentous (F)-actin
  • actin monomer-binding protein, linked to many cellular activities ranging from control of actin polymerization to gene transcription
  • actin-regulatory protein that has a role in modulating smooth muscle contraction
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • NACC1/actin/PFN1 complex is crucial for cancer cell cytokinesis, with a variety of important biologic and clinical implications
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • G-actin binding
  • interacting with DNM1, DNM2, CTTN
  • importance of the interaction of profilin I with actin, proline-rich proteins and phosphatidylinositol 4,5-bisphosphate in neuronal differentiation
  • small actin-binding factor that also interacts with HTT, as being a direct target of the ROCK1 isoform (
  • interaction of CTTN with PFN1 plays a pivotal role in regulating actin dynamics, smooth muscle contraction, and airway hyperresponsiveness in asthma (the association of CTTN with PFN1 is regulated by ABL1-mediated CTTN phosphorylation)
  • cell & other
    REGULATION
    Phosphorylated by VEGFA (VEGFA-inducible phosphorylation of PFN1 at Tyr 129 is critical for endothelial cell migration and angiogenesis)
    ASSOCIATED DISORDERS
    corresponding disease(s) ALS18
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    sensitizes cancer cells to apoptosis through the typical intrinsic apoptotic pathway
    constitutional     --over  
    reduces the aggregation of polyglutamine-expanded HTT and androgen receptor (AR) peptides
    Susceptibility to Amyotrophic lateral sclerosis (ALS18)
    Variant & Polymorphism
    Candidate gene
    Marker
  • has the potential to serve as a diagnostic or progression biomarker in renal cell carcinoma
  • Therapy target
    SystemTypeDisorderPubmed
    cancerurinary 
    therapeutic target in renal cell carcinoma
    ANIMAL & CELL MODELS
  • homozygous Col2pfn1 mice develop progressive chondrodysplasia caused by disorganization of the growth plate and defective chondrocyte cytokinesis, indicated by the appearance of binucleated cells
  • Pfn1-deficient mice exhibited an absence of trabecular bone in the marrow space of appendicular long bone 1)