SCEL

Sciellin

 

  • Alias                                 (According to NCBI)

 
  • FLJ21667
  • MGC22531
  • sciellin
  • Sciellin.

  • The protein encoded by this gene is a precursor to the cornified envelope of terminally differentiated keratinocytes. This protein localizes to the periphery of cells and may function in the assembly or regulation of proteins in the cornified envelope. Transcript variants encoding different isoforms exist. A transcript variant utilizing an alternative polyA signal has been described in the literature, but its full-length nature has not been determined.
  • Location: 13q22
  • Orientation: plus strand
  • Size: 263,283 bp
  • 33  exons
  • DNA sequence (Human):  NC_000013 

  • CGH (13q22):  Losses (%) - 14.0  Gain (%)  4.5  
  • Mutations and SNPs (According to HGMD and SNP)
  • HGMD :
  • SNPs:  SCEL
  • m-RNA                       (According to NCBI and CGAP)

 
  • Size:  668 amino acids; 75297 Da
  • Catalytic activity:

  • Subcellular location: Cytoplasmic. May become cross-linked to membrane proteins by transglutaminase.

  • Protein domains

  • Pathways and interactions (According to BioCarta, DIP)

  • Pathway:

  • Protein interactions:

  • Clinical                            (According to OMIM, PubMed)