DSG1

Desmoglein 1

  • Alias                                 (According to NCBI)

 

  • CDHF4
  • DG1
  • DSG
  • desmoglein 1
  • desmosomal glycoprotein 1
  • Desmoglein 1 precursor (Desmosomal glycoprotein 1) (DG1) (DGI) (Pemphigus foliaceus antigen).
  • Desmosomes are cell-cell junctions between epithelial, myocardial and certain other cell types. Desmoglein 1 is a calcium-binding transmembrane glycoprotein component of desmosomes in vertebrate epithelial cells. Currently, three desmoglein subfamily members have been identified and all are members of the cadherin cell adhesion molecule superfamily. These desmoglein gene family members are located in a cluster on chromosome 18. The protein encoded by this gene has been identified as the autoantigen of the autoimmune skin blistering disease pemphigus foliaceus.

  • Location: 18q12.1
  • Orientation: plus strand
  • Size: 38,407 bp
  • 15  exons
  • DNA sequence (Human): NC_000018


  • CGH (18q12.1):  Losses (%)  -18.4  Gain (%)  0.6 

  • Mutations and SNPs (According to HGMD and SNP)

 

  • m-RNA                       (According to NCBI and CGAP)

 

  • mRNA sequence (Human):NM_001942

  • Size:  4512 bp

  • cDNA libraries: DSG1

  • Size:  1049 amino acids; 113715 Da
  • Catalytic activity
  • Subcellular location: Type I membrane protein.

  • Protein domains

  • Pathways and interactions (According to BioCarta, DIP)
  • Pathway:

  • Protein interactions:

                         

  • Clinical                            (According to OMIM, PubMed)