KRT14

Keratin 14

  • Alias                                 (According to NCBI)

 

  • CK14
  • EBS3
  • EBS4
  • cytokeratin 14
  • keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)
  • Keratin, type I cytoskeletal 14 (Cytokeratin 14) (K14) (CK 14).
  • This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11.

  • Location: 17q21.2
  • Orientation: minus strand
  • Size: 4615 bp
  • 8 exons
  • DNA sequence (Human):  NC_000017 

  • CGH (17q21.2):  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_000526

  • Size:  1634 bp

  • cDNA libraries: KRT14

  • Size: 471 amino acids; 51490 Da
  • Catalytic activity:
  • Subcellular location:

  • Protein domains

 

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

  • Protein interactions:

 

 

 

  • Clinical                            (According to OMIM, PubMed)