Keratin 9 Explained

Keratin 9 is a protein that in humans is encoded by the KRT9 gene.^{[1] [2]}

Keratin 9 is a type I cytokeratin. It is found only in the terminally differentiated epidermis of palms and soles. Mutations in the gene encoding this protein cause epidermolytic palmoplantar keratoderma.^[3]

Further reading

• Stelzl U, Worm U, Lalowski M, etal . A human protein-protein interaction network: a resource for annotating the proteome. . Cell . 122 . 6 . 957–68 . 2005 . 16169070 . 10.1016/j.cell.2005.08.029 . 11858/00-001M-0000-0010-8592-0 . 8235923 . free . free .
• Kobayashi S, Tanaka T, Matsuyoshi N, Imamura S . Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation. . FEBS Lett. . 386 . 2–3 . 149–55 . 1996 . 8647270 . 10.1016/0014-5793(96)00393-6. 2433/182271 . 28388021 . free .
• Jin J, Smith FD, Stark C, etal . Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization . Curr. Biol. . 14 . 16 . 1436–50 . 2004 . 15324660 . 10.1016/j.cub.2004.07.051 . 2371325 . free . 2004CBio...14.1436J .
• Feng W, Han W, Man X, etal . Identification of the keratin 9 (KRT9) N161S mutation in a Chinese kindred with epidermolytic palmoplantar keratoderma . Eur J Dermatol . 18 . 4 . 387–90 . 2008. 18573708 . 10.1684/ejd.2008.0432 . 31 January 2024 .
• Kierszenbaum AL . Keratins: unraveling the coordinated construction of scaffolds in spermatogenic cells . Mol. Reprod. Dev. . 61 . 1 . 1–2 . 2002 . 11774369 . 10.1002/mrd.1124 . 28475473 .
• Endo H, Hatamochi A, Shinkai H . A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma . J. Invest. Dermatol. . 109 . 1 . 113–5 . 1997 . 9204965 . 10.1111/1523-1747.ep12276751. free .
• Covello SP, Irvine AD, McKenna KE, etal . Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland . J. Invest. Dermatol. . 111 . 6 . 1207–9 . 1998 . 9856842 . 10.1046/j.1523-1747.1998.00445.x . free .
• Hamada T, Ishii N, Karashima T, etal . The common KRT9 gene mutation in a Japanese patient with epidermolytic palmoplantar keratoderma and knuckle pad-like keratoses . J. Dermatol. . 32 . 6 . 500–2 . 2005 . 16043929 . 10.1111/j.1346-8138.2005.tb00789.x. 32916199 .
• Barbe L, Lundberg E, Oksvold P, etal . Toward a confocal subcellular atlas of the human proteome . Mol. Cell. Proteomics . 7 . 3 . 499–508 . 2008 . 18029348 . 10.1074/mcp.M700325-MCP200 . 10810250 . free .
• Kobayashi S, Kore-eda S, Tanaka T . Demonstration of the pathogenic effect of point mutated keratin 9 in vivo . FEBS Lett. . 447 . 1 . 39–43 . 1999 . 10218578 . 10.1016/S0014-5793(99)00233-1. 44924402 . free .
• Zhao JJ, Zhang ZH, Niu ZM, etal . Mutation M157R of keratin 9 in a Chinese family with epidermolytic palmoplantar keratoderma . Int. J. Dermatol. . 47 . 6 . 634–7 . 2008 . 18477167 . 10.1111/j.1365-4632.2008.03441.x . 21427875 .
• Chen XL, Xu CM, Cai SR, etal . Prenatal diagnosis of epidermolytic palmoplantar keratoderma caused by c.T470C (p.M157T) of the keratin 9 gene in a Chinese kindred . Prenat. Diagn. . 29 . 9 . 911–3 . 2009 . 19548225 . 10.1002/pd.2315 . 43229075 .
• Lee JH, Ahn KS, Lee CH, etal . Keratin 9 gene mutations in five Korean families with epidermolytic palmoplantar keratoderma . Exp. Dermatol. . 12 . 6 . 876–81 . 2003 . 14675368 . 10.1111/j.0906-6705.2003.00012.x . 40628931 .
• Tsunemi Y, Hattori N, Saeki H, etal . A keratin 9 Gene mutation (Asn160Ser) in a Japanese patient with epidermolytic palmoplantar keratoderma . J. Dermatol. . 29 . 12 . 768–72 . 2002 . 12532041 . 10.1111/j.1346-8138.2002.tb00220.x. 43884047 .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2002 . 12477932 . 10.1073/pnas.242603899 . 139241. 2002PNAS...9916899M . free .
• Li M, Yang LJ, Hua HK, etal . Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family . Clin. Exp. Dermatol. . 34 . 1 . 26–8 . 2009 . 17362238 . 10.1111/j.1365-2230.2007.02384.x . 10208101 .
• Codispoti A, Colombo E, Zocchi L, etal . Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression . Eur J Dermatol . 19 . 2 . 114–8 . 2009. 19106041 . 10.1684/ejd.2008.0575 .
• Frum R, Busby SA, Ramamoorthy M, etal . HDM2-binding partners: interaction with translation elongation factor EF1alpha . J. Proteome Res. . 6 . 4 . 1410–7 . 2007 . 17373842 . 10.1021/pr060584p . 4626875.
• Funakushi N, Mayuzumi N, Sugimura R, Ikeda S . Epidermolytic palmoplantar keratoderma with constriction bands on bilateral fifth toes . Arch Dermatol . 145 . 5 . 609–10 . 2009 . 19451521 . 10.1001/archdermatol.2009.83 .

Notes and References

1. Langbein L, Heid HW, Moll I, Franke WW . Molecular characterization of the body site-specific human epidermal cytokeratin 9: cDNA cloning, amino acid sequence, and tissue specificity of gene expression . Differentiation . 55 . 1 . 57–71 . December 1993 . 7507869 . 10.1111/j.1432-0436.1993.tb00033.x.
2. Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, Maltais L, Omary MB, Parry DA, Rogers MA, Wright MW . New consensus nomenclature for mammalian keratins . J. Cell Biol. . 174 . 2 . 169–74 . July 2006 . 16831889 . 2064177 . 10.1083/jcb.200603161 .
3. Reis A, Hennies HC, Langbein L, Digweed M, Mischke D, Drechsler M, Schröck E, Royer-Pokora B, Franke WW, Sperling K . Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK) . Nat. Genet. . 6 . 2 . 174–9 . February 1994 . 7512862 . 10.1038/ng0294-174 . 31277241 .