PFN1

(Profilin 1)

 

  • Alias                                 (According to NCBI)

 
  • Profilin 1
  • The protein encoded by this gene is a ubiquitous actin monomer-binding protein belonging to the profilin family. It is thought to regulate actin polymerization in response to extracellular signals. Deletion of this gene is associated with Miller-Dieker syndrome.
  • Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG.

     
  • Location: 17p13.3
  • Size: 2879 bp
  • exons:
  • DNA sequence (Human):  NC_000017.10

  • CGH (17p13.3):  Losses (%) -4.5   Gain (%) 11.7    

  • Mutations and SNPs (According to HGMD and SNP)

 

 
  • m-RNA                       (According to NCBI and CGAP)

 

  • mRNA sequence (Human):  NM_005022.2

  • Size:  847 bp

  • cDNA libraries:
  • Size: 140 amino acids; 15054 Da
  • Catalytic activity:

  • Subcellular location: Cytoplasm, Cytoskeleton

  • Protein domains

     

  • Protein sequence (Human): P07737

  • Homologous genes:

  • 2D PAGE:

  • 3D Structure: 1AWI

  • PTM:

  • Pathways and interactions (According to BioCarta, DIP)

  • Pathway:

  • Clinical                            (According to OMIM, PubMed)