Keratin 9

KRT9
Identifiers
Aliases	KRT9 , CK-9, EPPK, K9, keratin 9
External IDs	OMIM: 607606 HomoloGene: 133554 GeneCards: KRT9
Gene location (Human)
Chr.	Chromosome 17 (human)
End	41,572,059 bp
RNA expression pattern
	Top expressed in
	human penis; ; amniotic fluid; ; vulva; ; skin of abdomen; ; muscle tissue; ; smooth muscle tissue; ; cervix; ; placenta; ; vagina; ; myometrium;
	n/a
	More reference expression data
	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
	3857
	n/a
	ENSG00000171403
	n/a
	P35527
	n/a
	NM_000226
	n/a
	NP_000217
	n/a
	Wikidata
View/Edit Human

Last updated April 04, 2024

Keratin 9 is a protein that in humans is encoded by the KRT9 gene.^[3]^[4]

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.^[5]

Related Research Articles

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. 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 keratinocytes.

Keratin, type I cytoskeletal 4 also known as cytokeratin-4 (CK-4) or keratin-4 (K4) is a protein that in humans is encoded by the KRT4 gene.

Keratin 2A also known as keratin 2E or keratin 2 is a protein that in humans is encoded by the KRT2A gene.

Keratin 12 is a protein that in humans is encoded by the KRT12 gene.

Keratin, type I cytoskeletal 10 also known as cytokeratin-10 (CK-10) or keratin-10 (K10) is a protein that in humans is encoded by the KRT10 gene. Keratin 10 is a type I keratin.

Keratin 18 is a type I cytokeratin. It is, together with its filament partner keratin 8, perhaps the most commonly found products of the intermediate filament gene family. They are expressed in single layer epithelial tissues of the body. Mutations in this gene have been linked to cryptogenic cirrhosis. Two transcript variants encoding the same protein have been found for this gene.

Keratin, type I cytoskeletal 17 is a protein that in humans is encoded by the KRT17 gene.

Keratin 16 is a protein that in humans is encoded by the KRT16 gene.

Keratin 15 is a protein that in humans is encoded by the KRT15 gene. It has also been referred to as cytokeratin 15, K1CO and KRTB.

<span class="mw-page-title-main">Palmoplantar keratoderma</span> Medical condition

Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of the stratum corneum of the palms and soles.

Keratin 6C, is a type II cytokeratin, one of a number of isoforms of keratin 6 encoded by separate genes located within the type II keratin gene cluster on human chromosome 12q. This gene was uncovered recently by the Human Genome Project and its expression patterns in humans remains unknown.

Loricrin is a protein that in humans is encoded by the LOR gene.

Keratin, type II cuticular Hb1 is a protein that in humans is encoded by the KRT81 gene.

Keratin, type II cuticular Hb6 is a protein that in humans is encoded by the KRT86 gene.

Keratin, type I cuticular Ha3-II is a protein that in humans is encoded by the KRT33B gene.

Keratin, type I cuticular Ha2 is a protein that in humans is encoded by the KRT32 gene.

Keratin, type I cuticular Ha3-I is a protein that in humans is encoded by the KRT33A gene.

Keratin, type II cuticular Hb5 is a protein that in humans is encoded by the KRT85 gene.

Knuckle pads are circumscribed, keratotic, fibrous growths over the dorsa of the interphalangeal joints. They are described as well-defined, round, plaque-like, fibrous thickening that may develop at any age, and grow to be 10 to 15mm in diameter in the course of a few weeks or months, then go away over time.

Howel–Evans syndrome is an extremely rare condition involving thickening of the skin in the palms of the hands and the soles of the feet (hyperkeratosis). This familial disease is associated with a high lifetime risk of esophageal cancer. For this reason, it is sometimes known as tylosis with oesophageal cancer (TOC).

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000171403 - Ensembl, May 2017
↑ "Human 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.

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 31 January 2024). PMID 18573708.{{cite journal}}: CS1 maint: DOI inactive as of January 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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000171403 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid7507869-3] 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.

[pmid16831889-4] 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.

[pmid7512862-5] 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.

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Keratin 9

Related Research Articles

References

Further reading