Type I Keratin

Predicted MW (human): 51.6 kDa
Observed MW (SDS-PAGE, human): 50 kDa
Isoelectric point (human): 5.3 (R. Moll et al., Cell 1982)

Related to K16 and K17 in sequence

Distribution: K14 is expressed along with its partner K5 in the progenitor basal layer of complex epithelia.

Gene cloning and nucleotide sequence

Human:          Marchuk et al. (Cell1984)
                      GenBank Accession Numbers J00124 and NM_000526

Mouse:          Unavailable at GenBank. The gene has been cloned by
                     Catriona Lloyd and her colleagues (J. Cell Biol. 1995).

Predicted amino acid sequence

Mouse sequence is not publicly available.

Null mutation phenotype

Early postnatal death owing to massive blistering within the oral mucosa. See C. Lloyd et al., J. Cell Biol. 1995.

Involvement in human disease

Inherited mutations in keratin 14 cause epidermolysis bullosa simplex (EBS), a disorder affecting primarily the skin in which the progenitor basal cells of the epidermis rupture in response to trivial mechanical trauma. There are several variants of EBS diseases, with blistering ranging from mild to very severe. In the latter case, internal stratified epithelia (e.g., oral mucosa) can also be involved. Diseases severity correlates with the nature of the mutation, in terms of both its location along the polypeptide chain and the actual change in sequence.