PLEC1

Plectin 1

 

  • Alias                                 (According to NCBI)

 
  • EBS1
  • EBSO
  • HD1
  • PCN 
  • PLTN
  • epidermolysis bullosa simplex 1 (Ogna)
  • hemidesmosomal protein 1 
  • plectin 1, intermediate filament binding protein 500kDa
  • plectin 1, intermediate filament binding protein, 500kD
  • Plectin 1 (PLTN) (PCN) (Hemidesmosomal protein 1) (HD1).

  • The product of this gene belongs to the plakin or cytolinker family of genes. The encoded protein is involved in cytoskeleton-membrane attachment in epithelial cells, muscle, and other tissues. It also may regulate changes of lymphocyte cytoarchitecture during polarization and extravasation. This gene has alternative splicing of different 5' exons to the first constant exon, which generates transcript variants that encode distinct isoforms.
  • Location: 8q24
  • Orientation: minus strand
  • Size: 60223 bp
  • 35 exons
  • DNA sequence (Human): NC_000008

  • CGH (8q24):  Losses (%) - 0.0   Gain (%)  26.3   Amplifications  0.0
  • Mutations and SNPs (According to HGMD and SNP)
  • m-RNA                       (According to NCBI and CGAP)

 

 
  • Size: 4684 amino acids; 531732 Da
  • Catalytic activity:

  • Subcellular location:

  • Protein domains

  • Pathways and interactions (According to BioCarta, DIP)

  • Pathway:

  • Protein interactions:
 

  • Clinical                            (According to OMIM, PubMed)