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keratin 1

{{Infobox_gene}}

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.{{cite journal | vauthors = Freedberg IM | title = Keratin: a journey of three decades | journal = The Journal of Dermatology | volume = 20 | issue = 6 | pages = 321–328 | date = June 1993 | pmid = 7688776 | doi = 10.1111/j.1346-8138.1993.tb01293.x | s2cid = 41254909 }} 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 (palm and sole) keratinocytes.{{cite journal | vauthors = Merleev AA, Le ST, Alexanian C, Toussi A, Xie Y, Marusina AI, Watkins SM, Patel F, Billi AC, Wiedemann J, Izumiya Y, Kumar A, Uppala R, Kahlenberg JM, Liu FT, Adamopoulos IE, Wang EA, Ma C, Cheng MY, Xiong H, Kirane A, Luxardi G, Andersen B, Tsoi LC, Lebrilla CB, Gudjonsson JE, Maverakis E | display-authors = 6 | title = Biogeographic and disease-specific alterations in epidermal lipid composition and single-cell analysis of acral keratinocytes | journal = JCI Insight | volume = 7 | issue = 16 | pages = e159762 | date = August 2022 | pmid = 35900871 | pmc = 9462509 | doi = 10.1172/jci.insight.159762 }}

Type II cytokeratins are clustered in a region of chromosome 12q12-q13.

Interactions

Keratin 1 has been shown to interact with desmoplakin{{cite journal | vauthors = Meng JJ, Bornslaeger EA, Green KJ, Steinert PM, Ip W | title = Two-hybrid analysis reveals fundamental differences in direct interactions between desmoplakin and cell type-specific intermediate filaments | journal = The Journal of Biological Chemistry | volume = 272 | issue = 34 | pages = 21495–21503 | date = August 1997 | pmid = 9261168 | doi = 10.1074/jbc.272.34.21495 | doi-access = free }} and PRKCE.{{cite journal | vauthors = England K, Ashford D, Kidd D, Rumsby M | title = PKC epsilon is associated with myosin IIA and actin in fibroblasts | journal = Cellular Signalling | volume = 14 | issue = 6 | pages = 529–536 | date = June 2002 | pmid = 11897493 | doi = 10.1016/S0898-6568(01)00277-7 }}

See also

References

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Further reading

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  • {{cite journal | vauthors = Whittock NV, Ashton GH, Griffiths WA, Eady RA, McGrath JA | title = New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens | journal = The British Journal of Dermatology | volume = 145 | issue = 2 | pages = 330–335 | date = August 2001 | pmid = 11531804 | doi = 10.1046/j.1365-2133.2001.04327.x | s2cid = 36140204 }}
  • {{cite journal | vauthors = Langbein L, Schweizer J | title = Keratins of the human hair follicle | journal = International Review of Cytology | volume = 243 | pages = 1–78 | year = 2005 | pmid = 15797458 | doi = 10.1016/S0074-7696(05)43001-6 | isbn = 9780123646477 }}
  • {{cite journal | vauthors = Korge BP, Compton JG, Steinert PM, Mischke D | title = The two size alleles of human keratin 1 are due to a deletion in the glycine-rich carboxyl-terminal V2 subdomain | journal = The Journal of Investigative Dermatology | volume = 99 | issue = 6 | pages = 697–702 | date = December 1992 | pmid = 1281859 | doi = 10.1111/1523-1747.ep12614149 | doi-access = }}
  • {{cite journal | vauthors = Compton JG, DiGiovanna JJ, Santucci SK, Kearns KS, Amos CI, Abangan DL, Korge BP, McBride OW, Steinert PM, Bale SJ | display-authors = 6 | title = Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q | journal = Nature Genetics | volume = 1 | issue = 4 | pages = 301–305 | date = July 1992 | pmid = 1284546 | doi = 10.1038/ng0792-301 | s2cid = 10795444 }}
  • {{cite journal | vauthors = Rothnagel JA, Dominey AM, Dempsey LD, Longley MA, Greenhalgh DA, Gagne TA, Huber M, Frenk E, Hohl D, Roop DR | display-authors = 6 | title = Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis | journal = Science | volume = 257 | issue = 5073 | pages = 1128–1130 | date = August 1992 | pmid = 1380725 | doi = 10.1126/science.257.5073.1128 | s2cid = 30648935 | bibcode = 1992Sci...257.1128R }}
  • {{cite journal | vauthors = Chipev CC, Korge BP, Markova N, Bale SJ, DiGiovanna JJ, Compton JG, Steinert PM | title = A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis | journal = Cell | volume = 70 | issue = 5 | pages = 821–828 | date = September 1992 | pmid = 1381288 | doi = 10.1016/0092-8674(92)90315-4 | s2cid = 19725155 }}
  • {{cite journal | vauthors = Dawson SJ, White LA | title = Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin | journal = The Journal of Infection | volume = 24 | issue = 3 | pages = 317–320 | date = May 1992 | pmid = 1602151 | doi = 10.1016/S0163-4453(05)80037-4 }}
  • {{cite journal | vauthors = Mansbridge JN, Hanawalt PC | title = Role of transforming growth factor beta in the maturation of human epidermal keratinocytes | journal = The Journal of Investigative Dermatology | volume = 90 | issue = 3 | pages = 336–341 | date = March 1988 | pmid = 2450142 | doi = 10.1111/1523-1747.ep12456286 | doi-access = }}
  • {{cite journal | vauthors = Lessin SR, Huebner K, Isobe M, Croce CM, Steinert PM | title = Chromosomal mapping of human keratin genes: evidence of non-linkage | journal = The Journal of Investigative Dermatology | volume = 91 | issue = 6 | pages = 572–578 | date = December 1988 | pmid = 2461420 | doi = 10.1111/1523-1747.ep12477087 | doi-access = }}
  • {{cite journal | vauthors = Popescu NC, Bowden PE, DiPaolo JA | title = Two type II keratin genes are localized on human chromosome 12 | journal = Human Genetics | volume = 82 | issue = 2 | pages = 109–112 | date = May 1989 | pmid = 2470667 | doi = 10.1007/BF00284039 | s2cid = 8064919 | url = https://zenodo.org/record/1232401 }}
  • {{cite journal | vauthors = Johnson LD, Idler WW, Zhou XM, Roop DR, Steinert PM | title = Structure of a gene for the human epidermal 67-kDa keratin | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 82 | issue = 7 | pages = 1896–1900 | date = April 1985 | pmid = 2580302 | pmc = 397440 | doi = 10.1073/pnas.82.7.1896 | doi-access = free | bibcode = 1985PNAS...82.1896J }}
  • {{cite journal | vauthors = Steinert PM, Parry DA, Idler WW, Johnson LD, Steven AC, Roop DR | title = 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 | journal = The Journal of Biological Chemistry | volume = 260 | issue = 11 | pages = 7142–7149 | date = June 1985 | pmid = 2581964 | doi = 10.1016/S0021-9258(18)88900-1 | doi-access = free }}
  • {{cite journal | vauthors = Yang JM, Chipev CC, DiGiovanna JJ, Bale SJ, Marekov LN, Steinert PM, Compton JG | title = Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis | journal = The Journal of Investigative Dermatology | volume = 102 | issue = 1 | pages = 17–23 | date = January 1994 | pmid = 7507151 | doi = 10.1111/1523-1747.ep12371725 | doi-access = }}
  • {{cite journal | vauthors = McLean WH, Eady RA, Dopping-Hepenstal PJ, McMillan JR, Leigh IM, Navsaria HA, Higgins C, Harper JI, Paige DG, Morley SM | display-authors = 6 | title = Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE) | journal = The Journal of Investigative Dermatology | volume = 102 | issue = 1 | pages = 24–30 | date = January 1994 | pmid = 7507152 | doi = 10.1111/1523-1747.ep12371726 | doi-access = }}
  • {{cite journal | vauthors = Syder AJ, Yu QC, Paller AS, Giudice G, Pearson R, Fuchs E | title = Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity | journal = The Journal of Clinical Investigation | volume = 93 | issue = 4 | pages = 1533–1542 | date = April 1994 | pmid = 7512983 | pmc = 294170 | doi = 10.1172/JCI117132 }}
  • {{cite journal | vauthors = Kimonis V, DiGiovanna JJ, Yang JM, Doyle SZ, Bale SJ, Compton JG | title = A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma | journal = The Journal of Investigative Dermatology | volume = 103 | issue = 6 | pages = 764–769 | date = December 1994 | pmid = 7528239 | doi = 10.1111/1523-1747.ep12412771 | doi-access = free }}
  • {{cite journal | vauthors = Yoon SJ, LeBlanc-Straceski J, Ward D, Krauter K, Kucherlapati R | title = Organization of the human keratin type II gene cluster at 12q13 | journal = Genomics | volume = 24 | issue = 3 | pages = 502–508 | date = December 1994 | pmid = 7536183 | doi = 10.1006/geno.1994.1659 | doi-access = free }}
  • {{cite journal | vauthors = Peehl DM, Wong ST, Stamey TA | title = Vitamin A regulates proliferation and differentiation of human prostatic epithelial cells | journal = The Prostate | volume = 23 | issue = 1 | pages = 69–78 | year = 1993 | pmid = 7687781 | doi = 10.1002/pros.2990230107 | s2cid = 1940715 }}
  • {{cite journal | vauthors = Senshu T, Kan S, Ogawa H, Manabe M, Asaga H | title = Preferential deimination of keratin K1 and filaggrin during the terminal differentiation of human epidermis | journal = Biochemical and Biophysical Research Communications | volume = 225 | issue = 3 | pages = 712–719 | date = August 1996 | pmid = 8780679 | doi = 10.1006/bbrc.1996.1240 }}
  • {{cite journal | vauthors = Steinert PM, Marekov LN | title = Direct evidence that involucrin is a major early isopeptide cross-linked component of the keratinocyte cornified cell envelope | journal = The Journal of Biological Chemistry | volume = 272 | issue = 3 | pages = 2021–2030 | date = January 1997 | pmid = 8999895 | doi = 10.1074/jbc.272.3.2021 | doi-access = free }}

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{{Cytoskeletal proteins}}

Category:Keratins

{{Cell-biology-stub}}