keratin, type 2 cytoskeletal 5; cytokeratin-5; CK-5; keratin-5; K5; 58 kD cytokeratin (KRT5)

Function

• cytokeratin-5 associates with cytokeratin-14
• interacts with TCHP

Structure

• type 2 keratin
• heterotetramer of 2 type 1 & 2 type 1 keratins
• belongs to the intermediate filament family

Expression

• cytokeratin-5 & cytokeratin-14 are expressed in basal layer of epidermis

Pathology

• defects in KRT5 are a cause of:
  • epidermolysis bullosa simplex, Dowling-Meara type
  • epidermolysis bullosa simplex, Weber-Cockayne type
  • epidermolysis bullosa simplex, Koebner type
• defects in KRT5 are the cause of:
  • EBS with migratory circinate erythema (EBSMCE)
  • epidermolysis bullosa simplex with mottled pigmentation
  • Dowling-Degos-Kitamura disease

* EBS = epidermolysis bullosa simplex

More general terms

• cytokeratin, epithelial keratins or soft alpha-keratins
• phosphoprotein

Additional terms

• epidermolysis bullosa simplex (EBS)

Database

• UniProt: http://www.uniprot.org/uniprot/P13647.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=3852
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:3852
• OMIM: https://mirror.omim.org/entry/131760
• OMIM: https://mirror.omim.org/entry/131800
• OMIM: https://mirror.omim.org/entry/131900
• OMIM: https://mirror.omim.org/entry/131960
• OMIM: https://mirror.omim.org/entry/148040
• OMIM: https://mirror.omim.org/entry/179850
• OMIM: https://mirror.omim.org/entry/609352