Biology:Keratin 1
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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.[1] 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.[2]
Type II cytokeratins are clustered in a region of chromosome 12q12-q13.
Interactions
Keratin 1 has been shown to interact with desmoplakin[3] and PRKCE.[4]
See also
References
- ↑ "Keratin: a journey of three decades". The Journal of Dermatology 20 (6): 321–328. June 1993. doi:10.1111/j.1346-8138.1993.tb01293.x. PMID 7688776.
- ↑ "Biogeographic and disease-specific alterations in epidermal lipid composition and single-cell analysis of acral keratinocytes". JCI Insight 7 (16): e159762. August 2022. doi:10.1172/jci.insight.159762. PMID 35900871.
- ↑ "Two-hybrid analysis reveals fundamental differences in direct interactions between desmoplakin and cell type-specific intermediate filaments". The Journal of Biological Chemistry 272 (34): 21495–21503. August 1997. doi:10.1074/jbc.272.34.21495. PMID 9261168.
- ↑ "PKC epsilon is associated with myosin IIA and actin in fibroblasts". Cellular Signalling 14 (6): 529–536. June 2002. doi:10.1016/S0898-6568(01)00277-7. PMID 11897493.
Further reading
- "New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens". The British Journal of Dermatology 145 (2): 330–335. August 2001. doi:10.1046/j.1365-2133.2001.04327.x. PMID 11531804.
- "Keratins of the human hair follicle". International Review of Cytology 243: 1–78. 2005. doi:10.1016/S0074-7696(05)43001-6. ISBN 9780123646477. PMID 15797458.
- "The two size alleles of human keratin 1 are due to a deletion in the glycine-rich carboxyl-terminal V2 subdomain". The Journal of Investigative Dermatology 99 (6): 697–702. December 1992. doi:10.1111/1523-1747.ep12614149. PMID 1281859.
- "Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q". Nature Genetics 1 (4): 301–305. July 1992. doi:10.1038/ng0792-301. PMID 1284546.
- "Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis". Science 257 (5073): 1128–1130. August 1992. doi:10.1126/science.257.5073.1128. PMID 1380725. Bibcode: 1992Sci...257.1128R.
- "A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis". Cell 70 (5): 821–828. September 1992. doi:10.1016/0092-8674(92)90315-4. PMID 1381288.
- "Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin". The Journal of Infection 24 (3): 317–320. May 1992. doi:10.1016/S0163-4453(05)80037-4. PMID 1602151.
- "Role of transforming growth factor beta in the maturation of human epidermal keratinocytes". The Journal of Investigative Dermatology 90 (3): 336–341. March 1988. doi:10.1111/1523-1747.ep12456286. PMID 2450142.
- "Chromosomal mapping of human keratin genes: evidence of non-linkage". The Journal of Investigative Dermatology 91 (6): 572–578. December 1988. doi:10.1111/1523-1747.ep12477087. PMID 2461420.
- "Two type II keratin genes are localized on human chromosome 12". Human Genetics 82 (2): 109–112. May 1989. doi:10.1007/BF00284039. PMID 2470667. https://zenodo.org/record/1232401.
- "Structure of a gene for the human epidermal 67-kDa keratin". Proceedings of the National Academy of Sciences of the United States of America 82 (7): 1896–1900. April 1985. doi:10.1073/pnas.82.7.1896. PMID 2580302. Bibcode: 1985PNAS...82.1896J.
- "Amino acid sequences of mouse and human epidermal type II keratins of Mr 67,000 provide a systematic basis for the structural and functional diversity of the end domains of keratin intermediate filament subunits". The Journal of Biological Chemistry 260 (11): 7142–7149. June 1985. doi:10.1016/S0021-9258(18)88900-1. PMID 2581964.
- "Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis". The Journal of Investigative Dermatology 102 (1): 17–23. January 1994. doi:10.1111/1523-1747.ep12371725. PMID 7507151.
- "Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE)". The Journal of Investigative Dermatology 102 (1): 24–30. January 1994. doi:10.1111/1523-1747.ep12371726. PMID 7507152.
- "Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity". The Journal of Clinical Investigation 93 (4): 1533–1542. April 1994. doi:10.1172/JCI117132. PMID 7512983.
- "A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma". The Journal of Investigative Dermatology 103 (6): 764–769. December 1994. doi:10.1111/1523-1747.ep12412771. PMID 7528239.
- "Organization of the human keratin type II gene cluster at 12q13". Genomics 24 (3): 502–508. December 1994. doi:10.1006/geno.1994.1659. PMID 7536183.
- "Vitamin A regulates proliferation and differentiation of human prostatic epithelial cells". The Prostate 23 (1): 69–78. 1993. doi:10.1002/pros.2990230107. PMID 7687781.
- "Preferential deimination of keratin K1 and filaggrin during the terminal differentiation of human epidermis". Biochemical and Biophysical Research Communications 225 (3): 712–719. August 1996. doi:10.1006/bbrc.1996.1240. PMID 8780679.
- "Direct evidence that involucrin is a major early isopeptide cross-linked component of the keratinocyte cornified cell envelope". The Journal of Biological Chemistry 272 (3): 2021–2030. January 1997. doi:10.1074/jbc.272.3.2021. PMID 8999895.
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