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Keratin 1

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Title: Keratin 1  
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Subject: Epidermolytic hyperkeratosis, Palmoplantar keratoderma, Keratin, Desmoplakin, Keratins
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Keratin 1

Keratin 1, type II
Symbols  ; CK1; EHK; EHK1; EPPK; K1; KRT1A; NEPPK
External IDs GeneCards:
RNA expression pattern
Species Human Mouse
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

Keratin 1 is a member of the keratin family. It is specifically expressed in the spinous and granular layers of the epidermis with family member keratin 10. Mutations in this gene have been associated with the variants of bullous congenital ichthyosiform erythroderma in which the palms and soles of the feet are affected. The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13.[1]


  • Interactions 1
  • See also 2
  • References 3
  • Further reading 4


Keratin 1 has been shown to interact with Desmoplakin[2] and PRKCE.[3]

See also


  1. ^ "Entrez Gene: KRT1 keratin 1 (epidermolytic hyperkeratosis)". 
  2. ^ Meng, J J; Bornslaeger E A; Green K J; Steinert P M; Ip W (Aug 1997). "Two-hybrid analysis reveals fundamental differences in direct interactions between desmoplakin and cell type-specific intermediate filaments". J. Biol. Chem. (UNITED STATES) 272 (34): 21495–503.  
  3. ^ England, Karen; Ashford David; Kidd Daniel; Rumsby Martin (Jun 2002). "PKC epsilon is associated with myosin IIA and actin in fibroblasts". Cell. Signal. (England) 14 (6): 529–36.  

Further reading

  • Whittock NV, Ashton GH, Griffiths WA, et al. (2001). "New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens". Br. J. Dermatol. 145 (2): 330–5.  
  • Langbein L, Schweizer J (2005). "Keratins of the human hair follicle". Int. Rev. Cytol. 243: 1–78.  
  • Korge BP, Compton JG, Steinert PM, Mischke D (1993). "The two size alleles of human keratin 1 are due to a deletion in the glycine-rich carboxyl-terminal V2 subdomain". J. Invest. Dermatol. 99 (6): 697–702.  
  • Compton JG, DiGiovanna JJ, Santucci SK, et al. (1993). "Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q". Nat. Genet. 1 (4): 301–5.  
  • Rothnagel JA, Dominey AM, Dempsey LD, et al. (1992). "Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis". Science 257 (5073): 1128–30.  
  • Chipev CC, Korge BP, Markova N, et al. (1992). "A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis". Cell 70 (5): 821–8.  
  • Dawson SJ, White LA (1992). "Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin". J. Infect. 24 (3): 317–20.  
  • Mansbridge JN, Hanawalt PC (1988). "Role of transforming growth factor beta in the maturation of human epidermal keratinocytes". J. Invest. Dermatol. 90 (3): 336–41.  
  • Lessin SR, Huebner K, Isobe M, et al. (1989). "Chromosomal mapping of human keratin genes: evidence of non-linkage". J. Invest. Dermatol. 91 (6): 572–8.  
  • Popescu NC, Bowden PE, DiPaolo JA (1989). "Two type II keratin genes are localized on human chromosome 12". Hum. Genet. 82 (2): 109–12.  
  • Johnson LD, Idler WW, Zhou XM, et al. (1985). "Structure of a gene for the human epidermal 67-kDa keratin". Proc. Natl. Acad. Sci. U.S.A. 82 (7): 1896–900.  
  • Steinert PM, Parry DA, Idler WW, et al. (1985). "Amino acid sequences of mouse and human epidermal type II keratins of Mr 67,000 provide a systematic basis for the structural and functional diversity of the end domains of keratin intermediate filament subunits". J. Biol. Chem. 260 (11): 7142–9.  
  • Yang JM, Chipev CC, DiGiovanna JJ, et al. (1994). "Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis". J. Invest. Dermatol. 102 (1): 17–23.  
  • McLean WH, Eady RA, Dopping-Hepenstal PJ, et al. (1994). "Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE)". J. Invest. Dermatol. 102 (1): 24–30.  
  • Syder AJ, Yu QC, Paller AS, et al. (1994). "Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity". J. Clin. Invest. 93 (4): 1533–42.  
  • Kimonis V, DiGiovanna JJ, Yang JM, et al. (1995). "A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma". J. Invest. Dermatol. 103 (6): 764–9.  
  • Yoon SJ, LeBlanc-Straceski J, Ward D, et al. (1995). "Organization of the human keratin type II gene cluster at 12q13". Genomics 24 (3): 502–8.  
  • Peehl DM, Wong ST, Stamey TA (1993). "Vitamin A regulates proliferation and differentiation of human prostatic epithelial cells". Prostate 23 (1): 69–78.  
  • Senshu T, Kan S, Ogawa H, et al. (1996). "Preferential deimination of keratin K1 and filaggrin during the terminal differentiation of human epidermis". Biochem. Biophys. Res. Commun. 225 (3): 712–9.  
  • Steinert PM, Marekov LN (1997). "Direct evidence that involucrin is a major early isopeptide cross-linked component of the keratinocyte cornified cell envelope". J. Biol. Chem. 272 (3): 2021–30.  
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