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.[5] 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.[6]
^ abcGRCh38: Ensembl release 89: ENSG00000167768 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000046834 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Freedberg IM (June 1993). "Keratin: a journey of three decades". The Journal of Dermatology. 20 (6): 321–328. doi:10.1111/j.1346-8138.1993.tb01293.x. PMID 7688776. S2CID 41254909.
^Merleev AA, Le ST, Alexanian C, Toussi A, Xie Y, Marusina AI, et al. (August 2022). "Biogeographic and disease-specific alterations in epidermal lipid composition and single-cell analysis of acral keratinocytes". JCI Insight. 7 (16): e159762. doi:10.1172/jci.insight.159762. PMC9462509. PMID 35900871.
^Meng JJ, Bornslaeger EA, Green KJ, Steinert PM, Ip W (August 1997). "Two-hybrid analysis reveals fundamental differences in direct interactions between desmoplakin and cell type-specific intermediate filaments". The Journal of Biological Chemistry. 272 (34): 21495–21503. doi:10.1074/jbc.272.34.21495. PMID 9261168.
^England K, Ashford D, Kidd D, Rumsby M (June 2002). "PKC epsilon is associated with myosin IIA and actin in fibroblasts". Cellular Signalling. 14 (6): 529–536. doi:10.1016/S0898-6568(01)00277-7. PMID 11897493.
Further readingEdit
Whittock NV, Ashton GH, Griffiths WA, Eady RA, McGrath JA (August 2001). "New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens". The British Journal of Dermatology. 145 (2): 330–335. doi:10.1046/j.1365-2133.2001.04327.x. PMID 11531804. S2CID 36140204.
Langbein L, Schweizer J (2005). "Keratins of the human hair follicle". International Review of Cytology. 243: 1–78. doi:10.1016/S0074-7696(05)43001-6. ISBN9780123646477. PMID 15797458.
Korge BP, Compton JG, Steinert PM, Mischke D (December 1992). "The two size alleles of human keratin 1 are due to a deletion in the glycine-rich carboxyl-terminal V2 subdomain". The Journal of Investigative Dermatology. 99 (6): 697–702. doi:10.1111/1523-1747.ep12614149. PMID 1281859.
Compton JG, DiGiovanna JJ, Santucci SK, Kearns KS, Amos CI, Abangan DL, et al. (July 1992). "Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q". Nature Genetics. 1 (4): 301–305. doi:10.1038/ng0792-301. PMID 1284546. S2CID 10795444.
Rothnagel JA, Dominey AM, Dempsey LD, Longley MA, Greenhalgh DA, Gagne TA, et al. (August 1992). "Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis". Science. 257 (5073): 1128–1130. Bibcode:1992Sci...257.1128R. doi:10.1126/science.257.5073.1128. PMID 1380725. S2CID 30648935.
Chipev CC, Korge BP, Markova N, Bale SJ, DiGiovanna JJ, Compton JG, Steinert PM (September 1992). "A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis". Cell. 70 (5): 821–828. doi:10.1016/0092-8674(92)90315-4. PMID 1381288. S2CID 19725155.
Dawson SJ, White LA (May 1992). "Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin". The Journal of Infection. 24 (3): 317–320. doi:10.1016/S0163-4453(05)80037-4. PMID 1602151.
Mansbridge JN, Hanawalt PC (March 1988). "Role of transforming growth factor beta in the maturation of human epidermal keratinocytes". The Journal of Investigative Dermatology. 90 (3): 336–341. doi:10.1111/1523-1747.ep12456286. PMID 2450142.
Lessin SR, Huebner K, Isobe M, Croce CM, Steinert PM (December 1988). "Chromosomal mapping of human keratin genes: evidence of non-linkage". The Journal of Investigative Dermatology. 91 (6): 572–578. doi:10.1111/1523-1747.ep12477087. PMID 2461420.
Popescu NC, Bowden PE, DiPaolo JA (May 1989). "Two type II keratin genes are localized on human chromosome 12". Human Genetics. 82 (2): 109–112. doi:10.1007/BF00284039. PMID 2470667. S2CID 8064919.
Johnson LD, Idler WW, Zhou XM, Roop DR, Steinert PM (April 1985). "Structure of a gene for the human epidermal 67-kDa keratin". Proceedings of the National Academy of Sciences of the United States of America. 82 (7): 1896–1900. Bibcode:1985PNAS...82.1896J. doi:10.1073/pnas.82.7.1896. PMC397440. PMID 2580302.
Steinert PM, Parry DA, Idler WW, Johnson LD, Steven AC, Roop DR (June 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". The Journal of Biological Chemistry. 260 (11): 7142–7149. doi:10.1016/S0021-9258(18)88900-1. PMID 2581964.
Yang JM, Chipev CC, DiGiovanna JJ, Bale SJ, Marekov LN, Steinert PM, Compton JG (January 1994). "Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis". The Journal of Investigative Dermatology. 102 (1): 17–23. doi:10.1111/1523-1747.ep12371725. PMID 7507151.
McLean WH, Eady RA, Dopping-Hepenstal PJ, McMillan JR, Leigh IM, Navsaria HA, et al. (January 1994). "Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE)". The Journal of Investigative Dermatology. 102 (1): 24–30. doi:10.1111/1523-1747.ep12371726. PMID 7507152.
Syder AJ, Yu QC, Paller AS, Giudice G, Pearson R, Fuchs E (April 1994). "Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity". The Journal of Clinical Investigation. 93 (4): 1533–1542. doi:10.1172/JCI117132. PMC294170. PMID 7512983.
Kimonis V, DiGiovanna JJ, Yang JM, Doyle SZ, Bale SJ, Compton JG (December 1994). "A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma". The Journal of Investigative Dermatology. 103 (6): 764–769. doi:10.1111/1523-1747.ep12412771. PMID 7528239.
Yoon SJ, LeBlanc-Straceski J, Ward D, Krauter K, Kucherlapati R (December 1994). "Organization of the human keratin type II gene cluster at 12q13". Genomics. 24 (3): 502–508. doi:10.1006/geno.1994.1659. PMID 7536183.
Peehl DM, Wong ST, Stamey TA (1993). "Vitamin A regulates proliferation and differentiation of human prostatic epithelial cells". The Prostate. 23 (1): 69–78. doi:10.1002/pros.2990230107. PMID 7687781. S2CID 1940715.
Senshu T, Kan S, Ogawa H, Manabe M, Asaga H (August 1996). "Preferential deimination of keratin K1 and filaggrin during the terminal differentiation of human epidermis". Biochemical and Biophysical Research Communications. 225 (3): 712–719. doi:10.1006/bbrc.1996.1240. PMID 8780679.
Steinert PM, Marekov LN (January 1997). "Direct evidence that involucrin is a major early isopeptide cross-linked component of the keratinocyte cornified cell envelope". The Journal of Biological Chemistry. 272 (3): 2021–2030. doi:10.1074/jbc.272.3.2021. PMID 8999895.
This cell biology article is a stub. You can help Wikipedia by expanding it.
keratin, type, intermediate, filament, intracytoplasmatic, cytoskeleton, expressed, with, binds, type, keratin, form, coiled, coil, heterotypic, keratin, chain, specifically, expressed, spinous, granular, layers, epidermis, contrast, basal, layer, keratinocyte. 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 5 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 6 KRT1Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes4ZRYIdentifiersAliasesKRT1 CK1 EHK EHK1 EPPK K1 KRT1A NEPPK keratin 1External IDsOMIM 139350 MGI 96698 HomoloGene 38146 GeneCards KRT1Gene location Human Chr Chromosome 12 human 1 Band12q13 13Start52 674 736 bp 1 End52 680 407 bp 1 Gene location Mouse Chr Chromosome 15 mouse 2 Band15 F2 15 57 06 cMStart101 753 861 bp 2 End101 759 229 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed invulvahuman penisnippleskin of abdomencervix epitheliumgumsvaginathymusbloodepithelium of esophagusTop expressed inlipcondylebelly cordskin of abdomenskin of backfossasexually immature organismcervixmolarmucous cell of stomachMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionprotein binding structural molecule activity carbohydrate binding structural constituent of skin epidermis signaling receptor activity protein heterodimerization activityCellular componentintermediate filament extracellular matrix blood microparticle plasma membrane keratin filament cytoskeleton membrane nucleus extracellular exosome extracellular region extracellular space cytosol ficolin 1 rich granule lumen cornified envelope collagen containing extracellular matrixBiological processcomplement activation lectin pathway retina homeostasis regulation of angiogenesis negative regulation of inflammatory response response to oxidative stress fibrinolysis establishment of skin barrier keratinization neutrophil degranulation cornification peptide cross linking protein heterotetramerizationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez384816678EnsemblENSG00000167768ENSMUSG00000046834UniProtP04264P04104RefSeq mRNA NM 006121NM 008473RefSeq protein NP 006112NP 032499Location UCSC Chr 12 52 67 52 68 MbChr 15 101 75 101 76 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseType II cytokeratins are clustered in a region of chromosome 12q12 q13 Contents 1 Interactions 2 See also 3 References 4 Further readingInteractions EditKeratin 1 has been shown to interact with desmoplakin 7 and PRKCE 8 See also Edit34bE12References Edit a b c GRCh38 Ensembl release 89 ENSG00000167768 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000046834 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Freedberg IM June 1993 Keratin a journey of three decades The Journal of Dermatology 20 6 321 328 doi 10 1111 j 1346 8138 1993 tb01293 x PMID 7688776 S2CID 41254909 Merleev AA Le ST Alexanian C Toussi A Xie Y Marusina AI et al August 2022 Biogeographic and disease specific alterations in epidermal lipid composition and single cell analysis of acral keratinocytes JCI Insight 7 16 e159762 doi 10 1172 jci insight 159762 PMC 9462509 PMID 35900871 Meng JJ Bornslaeger EA Green KJ Steinert PM Ip W August 1997 Two hybrid analysis reveals fundamental differences in direct interactions between desmoplakin and cell type specific intermediate filaments The Journal of Biological Chemistry 272 34 21495 21503 doi 10 1074 jbc 272 34 21495 PMID 9261168 England K Ashford D Kidd D Rumsby M June 2002 PKC epsilon is associated with myosin IIA and actin in fibroblasts Cellular Signalling 14 6 529 536 doi 10 1016 S0898 6568 01 00277 7 PMID 11897493 Further reading EditWhittock NV Ashton GH Griffiths WA Eady RA McGrath JA August 2001 New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens The British Journal of Dermatology 145 2 330 335 doi 10 1046 j 1365 2133 2001 04327 x PMID 11531804 S2CID 36140204 Langbein L Schweizer J 2005 Keratins of the human hair follicle International Review of Cytology 243 1 78 doi 10 1016 S0074 7696 05 43001 6 ISBN 9780123646477 PMID 15797458 Korge BP Compton JG Steinert PM Mischke D December 1992 The two size alleles of human keratin 1 are due to a deletion in the glycine rich carboxyl terminal V2 subdomain The Journal of Investigative Dermatology 99 6 697 702 doi 10 1111 1523 1747 ep12614149 PMID 1281859 Compton JG DiGiovanna JJ Santucci SK Kearns KS Amos CI Abangan DL et al July 1992 Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q Nature Genetics 1 4 301 305 doi 10 1038 ng0792 301 PMID 1284546 S2CID 10795444 Rothnagel JA Dominey AM Dempsey LD Longley MA Greenhalgh DA Gagne TA et al August 1992 Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis Science 257 5073 1128 1130 Bibcode 1992Sci 257 1128R doi 10 1126 science 257 5073 1128 PMID 1380725 S2CID 30648935 Chipev CC Korge BP Markova N Bale SJ DiGiovanna JJ Compton JG Steinert PM September 1992 A leucine proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis Cell 70 5 821 828 doi 10 1016 0092 8674 92 90315 4 PMID 1381288 S2CID 19725155 Dawson SJ White LA May 1992 Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin The Journal of Infection 24 3 317 320 doi 10 1016 S0163 4453 05 80037 4 PMID 1602151 Mansbridge JN Hanawalt PC March 1988 Role of transforming growth factor beta in the maturation of human epidermal keratinocytes The Journal of Investigative Dermatology 90 3 336 341 doi 10 1111 1523 1747 ep12456286 PMID 2450142 Lessin SR Huebner K Isobe M Croce CM Steinert PM December 1988 Chromosomal mapping of human keratin genes evidence of non linkage The Journal of Investigative Dermatology 91 6 572 578 doi 10 1111 1523 1747 ep12477087 PMID 2461420 Popescu NC Bowden PE DiPaolo JA May 1989 Two type II keratin genes are localized on human chromosome 12 Human Genetics 82 2 109 112 doi 10 1007 BF00284039 PMID 2470667 S2CID 8064919 Johnson LD Idler WW Zhou XM Roop DR Steinert PM April 1985 Structure of a gene for the human epidermal 67 kDa keratin Proceedings of the National Academy of Sciences of the United States of America 82 7 1896 1900 Bibcode 1985PNAS 82 1896J doi 10 1073 pnas 82 7 1896 PMC 397440 PMID 2580302 Steinert PM Parry DA Idler WW Johnson LD Steven AC Roop DR June 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 The Journal of Biological Chemistry 260 11 7142 7149 doi 10 1016 S0021 9258 18 88900 1 PMID 2581964 Yang JM Chipev CC DiGiovanna JJ Bale SJ Marekov LN Steinert PM Compton JG January 1994 Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis The Journal of Investigative Dermatology 102 1 17 23 doi 10 1111 1523 1747 ep12371725 PMID 7507151 McLean WH Eady RA Dopping Hepenstal PJ McMillan JR Leigh IM Navsaria HA et al January 1994 Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma BCIE The Journal of Investigative Dermatology 102 1 24 30 doi 10 1111 1523 1747 ep12371726 PMID 7507152 Syder AJ Yu QC Paller AS Giudice G Pearson R Fuchs E April 1994 Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis Correlation between location and disease severity The Journal of Clinical Investigation 93 4 1533 1542 doi 10 1172 JCI117132 PMC 294170 PMID 7512983 Kimonis V DiGiovanna JJ Yang JM Doyle SZ Bale SJ Compton JG December 1994 A mutation in the V1 end domain of keratin 1 in non epidermolytic palmar plantar keratoderma The Journal of Investigative Dermatology 103 6 764 769 doi 10 1111 1523 1747 ep12412771 PMID 7528239 Yoon SJ LeBlanc Straceski J Ward D Krauter K Kucherlapati R December 1994 Organization of the human keratin type II gene cluster at 12q13 Genomics 24 3 502 508 doi 10 1006 geno 1994 1659 PMID 7536183 Peehl DM Wong ST Stamey TA 1993 Vitamin A regulates proliferation and differentiation of human prostatic epithelial cells The Prostate 23 1 69 78 doi 10 1002 pros 2990230107 PMID 7687781 S2CID 1940715 Senshu T Kan S Ogawa H Manabe M Asaga H August 1996 Preferential deimination of keratin K1 and filaggrin during the terminal differentiation of human epidermis Biochemical and Biophysical Research Communications 225 3 712 719 doi 10 1006 bbrc 1996 1240 PMID 8780679 Steinert PM Marekov LN January 1997 Direct evidence that involucrin is a major early isopeptide cross linked component of the keratinocyte cornified cell envelope The Journal of Biological Chemistry 272 3 2021 2030 doi 10 1074 jbc 272 3 2021 PMID 8999895 This cell biology article is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Keratin 1 amp oldid 1170405440, wikipedia, wiki, book, books, library,
