Keratin 1 is a Type II intermediate filament (IFs) of the intracytoplasmatic cytoskeleton. Is co-expressed with and binds to Keratin 10, a Type I keratin, to form a coiled coil heterotypic keratin chain. Keratin 1 and Keratin 10 are specifically expressed in the spinous and granular layers of the epidermis.[5] In contrast, basal layer keratinocytes express little to no Keratin 1. Mutations in KRT1, the gene encoding Keratin 1, have been associated with variants of the disease bullous congenital ichthyosiform erythroderma in which the palms and soles of the feet are affected. Mutations in KRT10 have also been associated with bullous congenital ichthyosiform erythroderma; however, in patients with KRT10 mutations the palms and soles are spared. This difference is likely due to Keratin 9, rather than Keratin 10, being the major binding partner of Keratin 1 in acral (palm and sole) keratinocytes.[6]
Type II cytokeratins are clustered in a region of chromosome 12q12-q13.
- ^ a b c GRCh38: Ensembl release 89: ENSG00000167768 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000046834 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Freedberg IM (June 1993). "Keratin: a journey of three decades". The Journal of Dermatology. 20 (6): 321–328. doi:10.1111/j.1346-8138.1993.tb01293.x. PMID 7688776. S2CID 41254909.
- ^ Merleev AA, Le ST, Alexanian C, Toussi A, Xie Y, Marusina AI, et al. (August 2022). "Biogeographic and disease-specific alterations in epidermal lipid composition and single-cell analysis of acral keratinocytes". JCI Insight. 7 (16): e159762. doi:10.1172/jci.insight.159762. PMC 9462509. PMID 35900871.