KRT14
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. [provided by RefSeq, Jul 2008]
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.
Biological Process
AgingManual Assertion Based On ExperimentIDA:UniProtKB
Epidermis developmentManual Assertion Based On ExperimentTAS:ProtInc
Epithelial cell differentiationIEA:Ensembl
Hair cycleManual Assertion Based On ExperimentIDA:UniProtKB
Intermediate filament bundle assemblyManual Assertion Based On ExperimentIMP:UniProtKB
Cellular Location
Cytoplasm
Nucleus
Expressed in both as a filamentous pattern.
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.
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.
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.
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.
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.
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.
PTM
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.
Loading...
Datasheet