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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 a) epidermolysis bullosa simplex, Dowling-Meara type b) epidermolysis bullosa simplex, Weber-Cockayne type c) epidermolysis bullosa simplex, Koebner type d) epidermolysis bullosa simplex, autosomal recessive e) Naegeli-Franceschetti-Jadassohn syndrome - CK14 identifies oncocytes

Related

epidermolysis bullosa simplex (EBS)

General

cytokeratin, epithelial keratins or soft alpha-keratins

Properties

CONFIGURATION: oligomer SIZE: entity length = 472 aa MW = 52 kD COMPARTMENT: cytoplasm cell nucleus MOTIF: Head {2-114} O-glycosylation site {N-TERMINAL} rod-like {central-region} MOTIF: alpha helix coiled coil Rod {115-422} MOTIF: Coil 1A {115-150} Linker 1 {151-168} Coil 1B {169-260} Linker 12 {261-283} Coil 2 {284-422} glycine residue {364} glutamate-rich region {C-TERMINAL} MOTIF: glutamate residue (SEVERAL) Ser phosphorylation site (SEVERAL) MOTIF-SEQUENCE: KSP Tail {423-472} MOTIF: keratin interaction {425-472}

Database Correlations

OMIM correlations MORBIDMAP 148066 UniProt P02533 Pfam PF00038 Entrez Gene 3861 Kegg hsa:3861

References

  1. Dabbs. Diagnostic Immunohistochemistry. Churchill-Livingstone, 2002. page 172.
  2. Entrez Gene :accession 3861
  3. UniProt :accession P02533
  4. Human intermediate Filament mutation Database http://www.interfil.org
  5. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=KRT14