IVL

 (Involucrin)

 

  • Alias                                 (According to NCBI)

 

  • involucrin 1, 5
  • Involucrin. 3
  • Involucrin, a component of the keratinocyte crosslinked envelope, is found in the cytoplasm and crosslinked to membrane proteins by transglutaminase. This gene is mapped to 1q21, among calpactin I light chain, trichohyalin, profillaggrin, loricrin, and calcyclin.

  • Location: 1q21
  • Orientation: plus strand
  • Size: 3324 bp
  • 2 exons
  • DNA sequence (Human):  NC_000001

 

  • CGH (1q21):  Losses (%)  -1.1  Gain (%)  7.8 

  • Mutations and SNPs (According to HGMD and SNP)
  • HGMD:
  • SNPs: IVL

 

  • m-RNA                       (According to NCBI and CGAP)

 

  • mRNA sequence (Human): NM_005547

  • Size: 2165 bp

  • cDNA libraries: IVL

  • Size: 585 amino acids; 68469 Da
  • Catalytic activity:
  • Subcellular location: Cytoplasmic. Constituent of the scaffolding of the cornified envelope.

  • Protein domains

 

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

  • Protein interactions:

  • Clinical                            (According to OMIM, PubMed)