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Gene Review

KRT10  -  keratin 10, type I

Homo sapiens

Synonyms: BCIE, BIE, CK-10, CK10, Cytokeratin-10, ...
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Disease relevance of KRT10


Psychiatry related information on KRT10

  • METHODS: Three SMI screening scales were developed for possible use in the SAMHSA National Household Survey on Drug Abuse: the Composite International Diagnostic Interview Short-Form (CIDI-SF) scale, the K10/K6 nonspecific distress scales, and the World Health Organization Disability Assessment Schedule (WHO-DAS) [6].
  • The performance of the K6 and K10 screening scales for psychological distress in the Australian National Survey of Mental Health and Well-Being [7].
  • CONCLUSIONS: While the K10 might outperform the K6 in screening for severe disorders, the K6 is preferred in screening for any DSM-IV mood or anxiety disorder because of its brevity and consistency across subsamples [7].
  • RESULTS: Both the K10 and K6 have good precision in the 90th-99th percentile range of the population distribution (standard errors of standardized scores in the range 0.20-0.25) as well as consistent psychometric properties across major sociodemographic subsamples [8].

High impact information on KRT10

  • We studied the K1 and K10 genes in blood and in the keratinocytes and fibroblasts of lesional and nonlesional skin from three patients with epidermal nevi and four of their offspring with epidermolytic hyperkeratosis [9].
  • In the patients with epidermal nevi, point mutations in 50 percent of the K10 alleles of epidermal cells were found in keratinocytes from lesional skin; no mutations were detected in normal skin [9].
  • In the offspring with epidermolytic hyperkeratosis, the same mutations as those in the parents were found in 50 percent of the K10 alleles from all cell types examined [9].
  • The correlation of mutations in the K10 gene with lesional skin and the correlation of the normal gene with normal skin provide evidence that genetic mosaicism can cause clinical mosaicism [9].
  • We show that KPPF co-segregates with a rare, high molecular weight allele of an insertion-deletion polymorphism in the C-terminal coding region of the keratin 10 gene (Z = 8.36 at theta = 0.00) and segrates as a true autosomal dominant trait [10].

Chemical compound and disease context of KRT10


Biological context of KRT10

  • In this study, we tested the hypothesis that the EHK phenotype is linked to one of the suprabasilar keratins (KRT10 or KRT1) present in the types I and II keratin gene clusters in chromosomes 17q and 12q, respectively [16].
  • Codon deletions were found in KRT1 (delta170-173) and in KRT10 (delta161-162) in two patients with a severe phenotype [1].
  • Two of the point mutations were in the KRT1 gene (F191C and K177N) and the other was in KRT10 (L453P) [1].
  • Retinoid therapy is particularly effective in patients with KRT10 mutations possibly because they are less vulnerable to a down-regulation of K2e, potentially functioning as a substitute for the mutated protein in patients with KRT1 mutations [17].
  • The coding region of KRT10 is 1707 bp and is comprised of eight exons [18].

Anatomical context of KRT10

  • Semi-quantitative RT-PCR and western blot analysis demonstrated degradation of the KRT10 transcript, resulting in complete absence of keratin K10 protein in the epidermis and cultured keratinocytes of homozygous patients [19].
  • The disease is caused by genetic defects of the epidermal keratin K1 or K10, leading to an impaired tonofilament network of differentiating epidermal cells [19].
  • Blocking the synthesis of tissue-specific differentiation products, such as the K1 and K10 keratins designed to form extensive disulfide cross-links in cornified cells, or the assembly of uroplakin plaques allows epithelial cells to better migrate and proliferate, activities that are of overriding importance during wound repair [20].
  • Abnormal keratin 1 and 10 cytoskeleton in cultured keratinocytes from epidermolytic hyperkeratosis caused by keratin 10 mutations [21].
  • Poroid cells were heterogeneously stained with anti-CK7, CK8/18, CK 10/11 and CK19 antibodies, which reacted in the inner cells of dermal ducts and in the secretory cells of sweat glands [22].

Associations of KRT10 with chemical compounds

  • Five out of 6 patients with KRT10 mutations benefited from treatment with oral acitretin (5-25mg/day) or topical tretinoin/tazarotene, but none of the patients with KRT1 mutations derived any benefit [17].
  • The substitution of arginine (R) to histidine (H) at amino acid residue 156 (R156H) of coiled 1A region is one of the most frequent mutations of KRT10 [23].
  • In the analogous region of type I keratin 10, an arginine-to-proline and an arginine-to-serine transition in codon 156 have been identified [24].
  • In this report we identify a novel, single base pair substitution resulting in an amino acid exchange from tyrosine to serine at residue 14 within the conserved 1A region of K10 (Y14S) [25].
  • These proteins were expressed mainly in the stratum spinosum and stratum granulosum, and their patterns of expression were almost the same as those of the CK1, CK10, and involucrin proteins [26].

Regulatory relationships of KRT10


Other interactions of KRT10

  • However, homozygosity by descent was observed with the polymorphic probes KRT9, KRT10 Ava II, and D17S1787 in both affected children, consistent with a recessive defect in a type I keratin [31].
  • Strong induction of the wound-healing keratins K6, K16 and K17 was found in the suprabasal epidermis, which are not able to compensate for the lack of keratin 10 [19].
  • At the same time, K1/K10 mRNA and protein expression decreased dramatically, while the mRNA for D1 cyclin became detectable, and the cells became highly proliferative [32].
  • In contrast, CK1 and CK10 were prominent markers of suprabasaloid differentiation stages and produced complementary stainings to those of CK5 and 14 [33].
  • The NGFR gene and Hox-2 homeo box locus are localized distal to the 17q21 break point and thus distal to the K10 gene [34].

Analytical, diagnostic and therapeutic context of KRT10


  1. Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis. Virtanen, M., Smith, S.K., Gedde-Dahl, T., Vahlquist, A., Bowden, P.E. J. Invest. Dermatol. (2003) [Pubmed]
  2. Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs. Credille, K.M., Barnhart, K.F., Minor, J.S., Dunstan, R.W. Br. J. Dermatol. (2005) [Pubmed]
  3. Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). Reis, A., Hennies, H.C., Langbein, L., Digweed, M., Mischke, D., Drechsler, M., Schröck, E., Royer-Pokora, B., Franke, W.W., Sperling, K. Nat. Genet. (1994) [Pubmed]
  4. Delays in malignant tumor development in transgenic mice by forced epidermal keratin 10 expression in mouse skin carcinomas. Santos, M., Ballestín, C., Garcia-Martín, R., Jorcano, J.L. Mol. Carcinog. (1997) [Pubmed]
  5. Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patients. Sun, X.K., Ma, L.L., Xie, Y.Q., Zhu, X.J. J. Dermatol. Sci. (2002) [Pubmed]
  6. Screening for serious mental illness in the general population. Kessler, R.C., Barker, P.R., Colpe, L.J., Epstein, J.F., Gfroerer, J.C., Hiripi, E., Howes, M.J., Normand, S.L., Manderscheid, R.W., Walters, E.E., Zaslavsky, A.M. Arch. Gen. Psychiatry (2003) [Pubmed]
  7. The performance of the K6 and K10 screening scales for psychological distress in the Australian National Survey of Mental Health and Well-Being. Furukawa, T.A., Kessler, R.C., Slade, T., Andrews, G. Psychological medicine. (2003) [Pubmed]
  8. Short screening scales to monitor population prevalences and trends in non-specific psychological distress. Kessler, R.C., Andrews, G., Colpe, L.J., Hiripi, E., Mroczek, D.K., Normand, S.L., Walters, E.E., Zaslavsky, A.M. Psychological medicine. (2002) [Pubmed]
  9. Genetic and clinical mosaicism in a type of epidermal nevus. Paller, A.S., Syder, A.J., Chan, Y.M., Yu, Q.C., Hutton, E., Tadini, G., Fuchs, E. N. Engl. J. Med. (1994) [Pubmed]
  10. Identification of the genetic locus for keratosis palmaris et plantaris on chromosome 17 near the RARA and keratin type I genes. Rogaev, E.I., Rogaeva, E.A., Ginter, E.K., Korovaitseva, G.I., Farrer, L.A., Shlensky, A.B., Pritkov, A.N., Mordovtsev, V.N., St George-Hyslop, P.H. Nat. Genet. (1993) [Pubmed]
  11. Arginine in the beginning of the 1A rod domain of the keratin 10 gene is the hot spot for the mutation in epidermolytic hyperkeratosis. Yang, J.M., Nam, K., Kim, S.W., Jung, S.Y., Min, H.G., Yeo, U.C., Park, K.B., Lee, J.H., Suhr, K.B., Park, J.K., Lee, E.S. J. Dermatol. Sci. (1999) [Pubmed]
  12. An alanine to proline mutation in the 1A rod domain of the keratin 10 chain in epidermolytic hyperkeratosis. Yang, J.M., Yoneda, K., Morita, E., Imamura, S., Nam, K., Lee, E.S., Steinert, P.M. J. Invest. Dermatol. (1997) [Pubmed]
  13. Malignant progression of an HPV16-immortalized human keratinocyte cell line (HPKIA) in vitro. Dürst, M., Seagon, S., Wanschura, S., zur Hausen, H., Bullerdiek, J. Cancer Genet. Cytogenet. (1995) [Pubmed]
  14. Novel quantitative immunofluorescent technique reveals improvements in epidermal cell populations after mild treatment of psoriasis. van Duijnhoven, M.W., Hagenberg, R., Pasch, M.C., van Erp, P.E., van de Kerkhof, P.C. Acta Derm. Venereol. (2005) [Pubmed]
  15. Characterization of an immortalized cell line from a patient with epidermolytic hyperkeratosis. Chipev, C.C., Steinert, P.M., Woodworth, C.D. J. Invest. Dermatol. (1996) [Pubmed]
  16. Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). Genetic linkage to chromosome 12q in the region of the type II keratin gene cluster. Pulkkinen, L., Christiano, A.M., Knowlton, R.G., Uitto, J. J. Clin. Invest. (1993) [Pubmed]
  17. Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression. Virtanen, M., Gedde-Dahl, T., Mörk, N.J., Leigh, I., Bowden, P.E., Vahlquist, A. Acta Derm. Venereol. (2001) [Pubmed]
  18. Comparative sequence analysis and radiation hybrid mapping of the canine keratin 10 gene. Minor, J., Dunstan, R., Guyon, R., André, C., Barnhart, K., Credille, K. DNA Seq. (2005) [Pubmed]
  19. A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis. Müller, F.B., Huber, M., Kinaciyan, T., Hausser, I., Schaffrath, C., Krieg, T., Hohl, D., Korge, B.P., Arin, M.J. Hum. Mol. Genet. (2006) [Pubmed]
  20. Altered phenotype of cultured urothelial and other stratified epithelial cells: implications for wound healing. Sun, T.T. Am. J. Physiol. Renal Physiol. (2006) [Pubmed]
  21. Abnormal keratin 1 and 10 cytoskeleton in cultured keratinocytes from epidermolytic hyperkeratosis caused by keratin 10 mutations. Huber, M., Scaletta, C., Benathan, M., Frenk, E., Greenhalgh, D.A., Rothnagel, J.A., Roop, D.R., Hohl, D. J. Invest. Dermatol. (1994) [Pubmed]
  22. Cytokeratin expression of apocrine and eccrine poromas with special reference to its expression in cuticular cells. Yamamoto, O., Hisaoka, M., Yasuda, H., Kasai, T., Hashimoto, H. J. Cutan. Pathol. (2000) [Pubmed]
  23. Recurrent R156H mutation of KRT10 in a Japanese family with bullous congenital ichthyosiform erythroderma. Mayuzumi, N., Shigihara, T., Ikeda, S., Ogawa, H. Journal of the European Academy of Dermatology and Venereology : JEADV. (2000) [Pubmed]
  24. Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE). McLean, W.H., Eady, R.A., Dopping-Hepenstal, P.J., McMillan, J.R., Leigh, I.M., Navsaria, H.A., Higgins, C., Harper, J.I., Paige, D.G., Morley, S.M. J. Invest. Dermatol. (1994) [Pubmed]
  25. A novel substitution in keratin 10 in epidermolytic hyperkeratosis. Arin, M.J., Longley, M.A., Anton-Lamprecht, I., Kurze, G., Huber, M., Hohl, D., Rothnagel, J.A., Roop, D.R. J. Invest. Dermatol. (1999) [Pubmed]
  26. Terminal differentiation of epithelial cells in middle ear cholesteatoma: investigation of patterns of expression of protein kinase C-delta and protein kinase C-eta. Miyazaki, H., Kojima, H., Tanaka, Y., Shiwa, M., Koga, T., Moriyama, H. Laryngoscope (1999) [Pubmed]
  27. Transglutaminase inhibitors induce hyperproliferation and parakeratosis in tissue-engineered skin. Harrison, C.A., Layton, C.M., Hau, Z., Bullock, A.J., Johnson, T.S., Macneil, S. Br. J. Dermatol. (2007) [Pubmed]
  28. Epidermolytic hyperkeratosis: applied molecular genetics. DiGiovanna, J.J., Bale, S.J. J. Invest. Dermatol. (1994) [Pubmed]
  29. Characterization of keratin and cell cycle protein expression in cell lines from squamous intraepithelial lesions progressing towards a malignant phenotype. Hietanen, S., Syrjänen, K., Syrjänen, S. Br. J. Cancer (1998) [Pubmed]
  30. High-cell-density phorbol ester and retinoic acid upregulate involucrin and downregulate suprabasal keratin 10 in autocrine cultures of human epidermal keratinocytes. Poumay, Y., Herphelin, F., Smits, P., De Potter, I.Y., Pittelkow, M.R. Mol. Cell Biol. Res. Commun. (1999) [Pubmed]
  31. Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex. Corden, L.D., Mellerio, J.E., Gratian, M.J., Eady, R.A., Harper, J.I., Lacour, M., Magee, G., Lane, E.B., McGrath, J.A., McLean, W.H. Hum. Mutat. (1998) [Pubmed]
  32. Serum factors regulate the expression of the proliferation-related genes alpha5 integrin and keratin 1, but not keratin 10, in HaCaT keratinocytes. Pivarcsi, A., Széll, M., Kemény, L., Dobozy, A., Bata-Csörgo, Z. Arch. Dermatol. Res. (2001) [Pubmed]
  33. An immunohistochemical and histochemical study of cytokeratin, involucrin and transglutaminase in seborrhoeic keratosis. Broekaert, D., Leigh, I.M., Lane, E.B., Van Muijen, G.N., Ramaekers, F.C., De Bersaques, J., Coucke, P. Arch. Dermatol. Res. (1993) [Pubmed]
  34. Chromosomal mapping of human keratin genes: evidence of non-linkage. Lessin, S.R., Huebner, K., Isobe, M., Croce, C.M., Steinert, P.M. J. Invest. Dermatol. (1988) [Pubmed]
  35. Staphylococcus aureus clumping factor B (ClfB) promotes adherence to human type I cytokeratin 10: implications for nasal colonization. O'Brien, L.M., Walsh, E.J., Massey, R.C., Peacock, S.J., Foster, T.J. Cell. Microbiol. (2002) [Pubmed]
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