KRT14

Function

The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro.

Involvement in disease

Epidermolysis bullosa simplex, Dowling-Meara type

DM-EBS

A severe form of intraepidermal epidermolysis bullosa characterized by generalized herpetiform blistering, milia formation, dystrophic nails, and mucous membrane involvement.

None

The disease is caused by variants affecting the gene represented in this entry.

Epidermolysis bullosa simplex, Weber-Cockayne type

WC-EBS

A form of intraepidermal epidermolysis bullosa characterized by blistering limited to palmar and plantar areas of the skin.

None

The disease is caused by variants affecting the gene represented in this entry.

Epidermolysis bullosa simplex, Koebner type

K-EBS

A form of intraepidermal epidermolysis bullosa characterized by generalized skin blistering. The phenotype is not fundamentally distinct from the Dowling-Meara type, although it is less severe.

None

The disease is caused by variants affecting the gene represented in this entry.

Epidermolysis bullosa simplex, autosomal recessive 1

EBSB1

A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering and cleavage within basal keratinocytes, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma.

None

The disease is caused by variants affecting the gene represented in this entry.

Naegeli-Franceschetti-Jadassohn syndrome

NFJS

A rare autosomal dominant form of ectodermal dysplasia. The cardinal features are absence of dermatoglyphics (fingerprints), reticular cutaneous hyperpigmentation (starting at about the age of 2 years without a preceding inflammatory stage), palmoplantar keratoderma, hypohidrosis with diminished sweat gland function and discomfort provoked by heat, nail dystrophy, and tooth enamel defects.

None

The disease is caused by variants affecting the gene represented in this entry.

Dermatopathia pigmentosa reticularis

DPR

A rare ectodermal dysplasia characterized by lifelong persistent reticulate hyperpigmentation, non-cicatricial alopecia, and nail dystrophy. Variable features include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

A disulfide bond is formed between rather than within filaments and promotes the formation of a keratin filament cage around the nucleus.

Ubiquitinated by the BCR(KLHL24) E3 ubiquitin ligase complex.

Sequence similarities

Belongs to the intermediate filament family.

Tissue specificity

Expressed in the corneal epithelium (at protein level) (PubMed:26758872). Detected in the basal layer, lowered within the more apically located layers specifically in the stratum spinosum, stratum granulosum but is 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 (PubMed:9457912). Found in keratinocytes surrounding the club hair during telogen (PubMed:9457912).

Cellular localization

• Cytoplasm
• Nucleus
• Expressed in both as a filamentous pattern.

Alternative names

• Cytokeratin-14
• Keratin-14
• CK-14
• K14
• KRT14

Database links

• entrezGene:3861
• omim:148066
• swissprot:P02533

Target type

Proteins

Molecular weight

51561Da