keratin, type 1 cytoskeletal 14; cytokeratin-14; CK-14; keratin-14; K14 (KRT14)

Function

• the nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles
• enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro
• cytokeratin-14 associates with cytokeratin-5
• interacts with TRADD & with keratin filaments
• associates with other type 1 cytokeratins

Structure

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

Compartment

• cytoplasm, nucleus
• expressed in a filamentous pattern

Expression

• detected in the basal layer & in lower amounts within the more apical layers the stratum spinosum & stratum granulosum
• not detected in stratum corneum
• strongly expressed in the outer root sheath of anagen follicles but not in the germinative matrix, inner root sheath or hair
• found in keratinocytes surrounding the club hair during telogen

Pathology

• defects in KRT14 are a cause of
  • epidermolysis bullosa simplex, Dowling-Meara type
  • epidermolysis bullosa simplex, Weber-Cockayne type
  • epidermolysis bullosa simplex, Koebner type
  • epidermolysis bullosa simplex, autosomal recessive
  • Naegeli-Franceschetti-Jadassohn syndrome
• CK14 identifies oncocytes

More general terms

• cytokeratin, epithelial keratins or soft alpha-keratins

Additional terms

• epidermolysis bullosa simplex (EBS)

Database

• UniProt: http://www.uniprot.org/uniprot/P02533.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=3861
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:3861
• OMIM: https://mirror.omim.org/entry/125595
• 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/148066
• OMIM: https://mirror.omim.org/entry/161000
• OMIM: https://mirror.omim.org/entry/601001