DSP

Desmoplakin

  • Alias                                 (According to NCBI)

 
  • DPI
  • DPII
  • KPPS2
  • PPKS2
  • desmoplakin
  • desmoplakin (DPI, DPII)
  • Desmoplakin (DP) (250/210 kDa paraneoplastic pemphigus antigen).

  • Desmosomes are intercellular junctions that tightly link adjacent cells. Desmoplakin is an obligate component of functional desmosomes that anchors intermediate filaments to desmosomal plaques. The N-terminus of desmoplakin is required for localization to the desmosome and interacts with the N-terminal region of plakophilin 1 and plakoglobin. The C-terminus of desmoplakin binds with intermediate filaments. In the mid-region of desmoplakin, a coiled-coiled rod domain is responsible for homodimerization. Mutations in this gene are the cause of several cardiomyopathies and keratodermas as well as the autoimmune disease paraneoplastic pemphigus.
  • Location:6p24
  • Orientation: plus strand
  • Size: 44935 bp
  • 24 exons
  • DNA sequence (Human): NC_000006


 

  • CGH (6p24.1):  Losses (%)  -2.2  Gain (%)  11.2 

  • Mutations and SNPs (According to HGMD and SNP)

 
  • m-RNA                       (According to NCBI and CGAP)

 
  • Size: 2871 amino acids; 331771 Da
  • Catalytic activity:?

  • Subcellular location: Innermost portion of the desmosomal plaque.

  • Protein domains

 
  • Pathways and interactions (According to BioCarta, DIP)

  • Pathway:

  • Protein interactions:

 

 

 
  • Clinical                            (According to OMIM, PubMed)