Keratin 9

KRT9
Identifiers
Aliases	KRT9, CK-9, EPPK, K9, keratin 9
External IDs	OMIM: 607606; MGI: 96696; HomoloGene: 133554; GeneCards: KRT9; OMA:KRT9 - orthologs
Gene location (Human) Chr. Chromosome 17 (human) Band 17q21.2 Start 41,565,836 bp End 41,572,059 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11|11 D Start 100,077,607 bp End 100,084,072 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle gonad human penis amniotic fluid gingival epithelium vulva skin of thigh skin of hip skin of abdomen muscle tissue Top expressed in genital tubercle dentate gyrus of hippocampal formation granule cell striatum of neuraxis superior frontal gyrus hippocampus proper primary visual cortex olfactory bulb cerebellar cortex thymus More reference expression data BioGPS n/a
Gene ontology Molecular function structural constituent of cytoskeleton structural molecule activity Cellular component extracellular exosome intermediate filament membrane nucleus extracellular space cytosol Biological process intermediate filament organization spermatogenesis skin development epidermis development keratinization cornification Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3857 107656 Ensembl ENSG00000171403 ENSMUSG00000051617 UniProt P35527 Q6RHW0 RefSeq (mRNA) NM_000226 NM_201255 RefSeq (protein) NP_000217 NP_957707 Location (UCSC) Chr 17: 41.57 – 41.57 Mb Chr 11: 100.08 – 100.08 Mb PubMed search
Wikidata
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Keratin 9 is a protein that in humans is encoded by the KRT9 gene.

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.

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. PMID 16169070.
• 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. PMID 8647270.
• 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. doi:10.1016/j.cub.2004.07.051. PMID 15324660.
• 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. PMID 18573708.
• 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.
• 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. PMID 16043929.
• 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.{{cite journal}}: CS1 maint: unflagged free DOI (link)
• 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.
• 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.
• 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.
• 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.
• 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. PMID 12532041.
• 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. 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.
• 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. 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.