KRT1

Keratin 1

  • Alias                                 (According to NCBI)

 
  • CK1
  • EHK1
  • KRT1A
  • Keratin-1
  • cytokeratin 1
  • hair alpha protein
  • keratin 1 (epidermolytic hyperkeratosis) 
  • Keratin, type II cytoskeletal 1 (Cytokeratin 1) (K1) (CK 1) (67 kDa cytokeratin) (Hair alpha
    protein).

  • The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13.
  • Location: 12q12-q13
  • Orientation: minus strand
  • Size: 5728 bp
  • 9 exons
  • DNA sequence (Human):   NC_000012 

  • CGH (12q12-13):  Losses (%) -1.7  Gain (%)  7.8 

  • Mutations and SNPs (According to HGMD and SNP)
  • m-RNA                       (According to NCBI and CGAP)

 

  • mRNA sequence (Human):NM_006121

  • Size:  2507 bp

  • cDNA libraries: KRT1
  • Size: 643 amino acids; 65886 Da
  • Catalytic activity:

  • Subcellular location:

  • Protein domains

  • Pathways and interactions (According to BioCarta, DIP)

  • Pathway:

  • Protein interactions:

 

 

 
  • Clinical                            (According to OMIM, PubMed)