Protein-coding gene in the species Homo sapiens
Keratin 9 is a protein that in humans is encoded by the KRT9 gene .[ 5] [ 6]
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 .[ 7]
References
^ a b c GRCh38: Ensembl release 89: ENSG00000171403 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000051617 – 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 .^ Langbein L, Heid HW, Moll I, Franke WW (December 1993). "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. doi :10.1111/j.1432-0436.1993.tb00033.x . PMID 7507869 . ^ Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, Maltais L, Omary MB, Parry DA, Rogers MA, Wright MW (July 2006). "New consensus nomenclature for mammalian keratins" . J. Cell Biol . 174 (2): 169–74. doi :10.1083/jcb.200603161 . PMC 2064177 PMID 16831889 . ^ Reis A, Hennies HC, Langbein L, Digweed M, Mischke D, Drechsler M, Schröck E, Royer-Pokora B, Franke WW, Sperling K (February 1994). "Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)". Nat. Genet . 6 (2): 174–9. doi :10.1038/ng0294-174 . PMID 7512862 . S2CID 31277241 .
Further reading
Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome" . Cell . 122 (6): 957–68. doi :10.1016/j.cell.2005.08.029 hdl :11858/00-001M-0000-0010-8592-0 PMID 16169070 . S2CID 8235923 . Kobayashi S, Tanaka T, Matsuyoshi N, Imamura S (1996). "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. doi :10.1016/0014-5793(96)00393-6 . hdl :2433/182271 PMID 8647270 . S2CID 28388021 . Jin J, Smith FD, Stark C, et al. (2004). "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. Bibcode :2004CBio...14.1436J . doi :10.1016/j.cub.2004.07.051 PMID 15324660 . S2CID 2371325 . Feng W, Han W, Man X, et al. (2008). "Identification of the keratin 9 (KRT9) N161S mutation in a Chinese kindred with epidermolytic palmoplantar keratoderma" . Eur J Dermatol . 18 (4): 387–90. doi :10.1684/ejd.2008.0432 (inactive 1 November 2024). PMID 18573708 . {{cite journal }}: CS1 maint: DOI inactive as of November 2024 (link )Kierszenbaum AL (2002). "Keratins: unraveling the coordinated construction of scaffolds in spermatogenic cells". Mol. Reprod. Dev . 61 (1): 1–2. doi :10.1002/mrd.1124 . PMID 11774369 . S2CID 28475473 . Endo H, Hatamochi A, Shinkai H (1997). "A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma" . J. Invest. Dermatol . 109 (1): 113–5. doi :10.1111/1523-1747.ep12276751 PMID 9204965 . Covello SP, Irvine AD, McKenna KE, et al. (1998). "Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland" . J. Invest. Dermatol . 111 (6): 1207–9. doi :10.1046/j.1523-1747.1998.00445.x PMID 9856842 . Hamada T, Ishii N, Karashima T, et al. (2005). "The common KRT9 gene mutation in a Japanese patient with epidermolytic palmoplantar keratoderma and knuckle pad-like keratoses". J. Dermatol . 32 (6): 500–2. doi :10.1111/j.1346-8138.2005.tb00789.x . PMID 16043929 . S2CID 32916199 . Barbe L, Lundberg E, Oksvold P, et al. (2008). "Toward a confocal subcellular atlas of the human proteome" . Mol. Cell. Proteomics . 7 (3): 499–508. doi :10.1074/mcp.M700325-MCP200 PMID 18029348 . S2CID 10810250 . Kobayashi S, Kore-eda S, Tanaka T (1999). "Demonstration of the pathogenic effect of point mutated keratin 9 in vivo" . FEBS Lett . 447 (1): 39–43. doi :10.1016/S0014-5793(99)00233-1 PMID 10218578 . S2CID 44924402 . Zhao JJ, Zhang ZH, Niu ZM, et al. (2008). "Mutation M157R of keratin 9 in a Chinese family with epidermolytic palmoplantar keratoderma". Int. J. Dermatol . 47 (6): 634–7. doi :10.1111/j.1365-4632.2008.03441.x . PMID 18477167 . S2CID 21427875 . Chen XL, Xu CM, Cai SR, et al. (2009). "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. doi :10.1002/pd.2315 . PMID 19548225 . S2CID 43229075 . Lee JH, Ahn KS, Lee CH, et al. (2003). "Keratin 9 gene mutations in five Korean families with epidermolytic palmoplantar keratoderma". Exp. Dermatol . 12 (6): 876–81. doi :10.1111/j.0906-6705.2003.00012.x . PMID 14675368 . S2CID 40628931 . Tsunemi Y, Hattori N, Saeki H, et al. (2002). "A keratin 9 Gene mutation (Asn160Ser) in a Japanese patient with epidermolytic palmoplantar keratoderma". J. Dermatol . 29 (12): 768–72. doi :10.1111/j.1346-8138.2002.tb00220.x . PMID 12532041 . S2CID 43884047 . Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Li M, Yang LJ, Hua HK, et al. (2009). "Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family". Clin. Exp. Dermatol . 34 (1): 26–8. doi :10.1111/j.1365-2230.2007.02384.x . PMID 17362238 . S2CID 10208101 . Codispoti A, Colombo E, Zocchi L, et al. (2009). "Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression". Eur J Dermatol . 19 (2): 114–8. doi :10.1684/ejd.2008.0575 . PMID 19106041 . Frum R, Busby SA, Ramamoorthy M, et al. (2007). "HDM2-binding partners: interaction with translation elongation factor EF1alpha" . J. Proteome Res . 6 (4): 1410–7. doi :10.1021/pr060584p . PMC 4626875 PMID 17373842 . Funakushi N, Mayuzumi N, Sugimura R, Ikeda S (2009). "Epidermolytic palmoplantar keratoderma with constriction bands on bilateral fifth toes". Arch Dermatol . 145 (5): 609–10. doi :10.1001/archdermatol.2009.83 . PMID 19451521 .
