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Keratin 5

keratin 5/14, keratin 5

Identifiers Aliases KRT5, CK5, DDD, DDD1, EBS2, K5, KRT5A, keratin 5 External IDs OMIM: 148040 MGI: 96702 HomoloGene: 55461 GeneCards: KRT5 RNA expression pattern More reference expression data Orthologs Species Human Mouse Entrez
RefSeq mRNA



RefSeq protein



Location UCSC Chr 12: 5251 – 5252 Mb Chr 15: 10171 – 10171 Mb PubMed search 1 2 Wikidata
  • ^ "Human PubMed Reference:" 
  • ^ "Mouse PubMed Reference:" 
  • ^ "Entrez Gene: KRT5 keratin 5 epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types" 
  • ^ Lersch R, Fuchs E Jan 1988 "Sequence and expression of a type II keratin, K5, in human epidermal cells" Molecular and Cellular Biology 8 1: 486–93 PMC 363157  PMID 2447486 doi:101128/mcb81486 
  • ^ Eckert RL, Rorke EA Jun 1988 "The sequence of the human epidermal 58-kD #5 type II keratin reveals an absence of 5' upstream sequence conservation between coexpressed epidermal keratins" Dna 7 5: 337–45 PMID 2456903 doi:101089/dna119887337 
  • ^ a b c d e Chan YM, Yu QC, LeBlanc-Straceski J, Christiano A, Pulkkinen L, Kucherlapati RS, Uitto J, Fuchs E Apr 1994 "Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex" Journal of Cell Science 107 4: 765–74 PMID 7520042 
  • ^ a b c d e f Atkinson SD, McGilligan VE, Liao H, Szeverenyi I, Smith FJ, Moore CB, McLean WH Oct 2011 "Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex" The Journal of Investigative Dermatology 131 10: 2079–86 PMID 21716320 doi:101038/jid2011169 
  • ^ a b c Mulvihill MS, Kratz JR, Pham P, Jablons DM, He B Feb 2013 "The role of stem cells in airway repair: implications for the origins of lung cancer" Chinese Journal of Cancer 32 2 PMC 3845611  PMID 23114089 doi:105732/cjc01210097 
  • ^ a b c van de Rijn M, Perou CM, Tibshirani R, Haas P, Kallioniemi O, Kononen J, Torhorst J, Sauter G, Zuber M, Köchli OR, Mross F, Dieterich H, Seitz R, Ross D, Botstein D, Brown P Dec 2002 "Expression of cytokeratins 17 and 5 identifies a group of breast carcinomas with poor clinical outcome" The American Journal of Pathology 161 6: 1991–1996 PMC 1850928  PMID 12466114 doi:101016/S0002-94401064476-8 
  • ^ a b Shinkuma, Satoru, et al "A Novel Keratin 5 Mutation in an African Family with Epidermolysis Bullosa Simplex Indicates the Importance of the Amino Acid Located at the Boundary Site Between the H1 and Coil 1A Domains" Acta dermato-venereologica 935 2013: 585-587
  • ^ a b Ramírez A, Bravo A, Jorcano JL, Vidal M Nov 1994 "Sequences 5' of the bovine keratin 5 gene direct tissue- and cell-type-specific expression of a lacZ gene in the adult and during development" Differentiation; Research in Biological Diversity 58 1: 53–64 PMID 7532601 doi:101046/j1432-043619945810053x 
  • ^ a b c d Bouameur, Jamal-Eddine, et al "Interaction of plectin with keratins 5 and 14: dependence on several plectin domains and keratin quaternary structure" Journal of Investigative Dermatology 13411 2014: 2776-2783
  • ^ a b Coulombe PA, Omary MB Feb 2002 "'Hard' and 'soft' principles defining the structure, function and regulation of keratin intermediate filaments" Current Opinion in Cell Biology 14 1: 110–22 PMID 11792552 doi:101016/S0955-06740100301-5 
  • ^ a b Intong, Lizbeth RA, and Dédée F Murrell "Inherited epidermolysis bullosa: new diagnostic criteria and classification" Clinics in dermatology 301 2012: 70-77
  • ^ a b c Liovic M, Stojan J, Bowden PE, Gibbs D, Vahlquist A, Lane EB, Komel R Jun 2001 "A novel keratin 5 mutation K5V186L in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes" The Journal of Investigative Dermatology 116 6: 964–9 PMID 11407988 doi:101046/j1523-1747200101334x 
  • ^ a b Cheang MC, Voduc D, Bajdik C, Leung S, McKinney S, Chia SK, Perou CM, Nielsen TO Mar 2008 "Basal-like breast cancer defined by five biomarkers has superior prognostic value than triple-negative phenotype" Clinical Cancer Research 14 5: 1368–76 PMID 18316557 doi:101158/1078-0432CCR-07-1658 
  • ^ Cheang MC, van de Rijn M, Nielsen TO 2008 "Gene expression profiling of breast cancer" Annual Review of Pathology 3: 67–97 PMID 18039137 doi:101146/annurevpathmechdis3121806151505 
  • ^ a b Chu PG, Weiss LM Jan 2002 "Expression of cytokeratin 5/6 in epithelial neoplasms: an immunohistochemical study of 509 cases" Modern Pathology 15 1: 6–10 PMID 11796835 doi:101038/modpathol3880483 
  • ^ Wang, Yu, et al "An analysis of Cyclin D1, Cytokeratin 5/6 and Cytokeratin 8/18 expression in breast papillomas and papillary carcinomas" Diagn Pathol 88 2013
  • ^ Savagner P Oct 2010 "The epithelial-mesenchymal transition EMT phenomenon" Annals of Oncology 21 Suppl 7: vii89–vii92 PMC 3379967  PMID 20943648 doi:101093/annonc/mdq292 
  • Further readingedit

    • Schuilenga-Hut PH, van der Vlies P, Jonkman MF, Waanders E, Buys CH, Scheffer H Apr 2003 "Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations" Human Mutation 21 4: 447 PMID 12655565 doi:101002/humu9124 
    • Seibert JA, Boone JM Mar 2005 "X-ray imaging physics for nuclear medicine technologists Part 2: X-ray interactions and image formation" Journal of Nuclear Medicine Technology 33 1: 3–18 PMID 15731015 
    • Ohtsuki M, Tomic-Canic M, Freedberg IM, Blumenberg M Nov 1992 "Regulation of epidermal keratin expression by retinoic acid and thyroid hormone" The Journal of Dermatology 19 11: 774–80 PMID 1284070 doi:101111/j1346-81381992tb03779x 
    • Lane EB, Rugg EL, Navsaria H, Leigh IM, Heagerty AH, Ishida-Yamamoto A, Eady RA Mar 1992 "A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering" Nature 356 6366: 244–6 PMID 1372711 doi:101038/356244a0 
    • Tavakkol A, Griffiths CE, Keane KM, Palmer RD, Voorhees JJ Aug 1992 "Cellular localization of mRNA for cellular retinoic acid-binding protein II and nuclear retinoic acid receptor-gamma 1 in retinoic acid-treated human skin" The Journal of Investigative Dermatology 99 2: 146–50 PMID 1378478 doi:101111/1523-1747ep12616781 
    • Rosenberg M, Fuchs E, Le Beau MM, Eddy RL, Shows TB 1991 "Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12" Cytogenetics and Cell Genetics 57 1: 33–8 PMID 1713141 doi:101159/000133109 
    • Ryynänen M, Knowlton RG, Uitto J Nov 1991 "Mapping of epidermolysis bullosa simplex mutation to chromosome 12" American Journal of Human Genetics 49 5: 978–84 PMC 1683248  PMID 1718160 
    • Bonifas JM, Rothman AL, Epstein EH Nov 1991 "Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities" Science 254 5035: 1202–5 PMID 1720261 doi:101126/science1720261 
    • Lersch R, Fuchs E Jan 1988 "Sequence and expression of a type II keratin, K5, in human epidermal cells" Molecular and Cellular Biology 8 1: 486–93 PMC 363157  PMID 2447486 doi:101128/mcb81486 
    • Galup C, Darmon MY Jul 1988 "Isolation and characterization of a cDNA clone coding for human epidermal keratin K5 Sequence of the carboxyterminal half of this keratin" The Journal of Investigative Dermatology 91 1: 39–42 PMID 2455002 doi:101111/1523-1747ep12463286 
    • Eckert RL, Rorke EA Jun 1988 "The sequence of the human epidermal 58-kD #5 type II keratin reveals an absence of 5' upstream sequence conservation between coexpressed epidermal keratins" Dna 7 5: 337–45 PMID 2456903 doi:101089/dna119887337 
    • Lersch R, Stellmach V, Stocks C, Giudice G, Fuchs E Sep 1989 "Isolation, sequence, and expression of a human keratin K5 gene: transcriptional regulation of keratins and insights into pairwise control" Molecular and Cellular Biology 9 9: 3685–97 PMC 362429  PMID 2476664 doi:101128/mcb993685 
    • Rugg EL, Morley SM, Smith FJ, Boxer M, Tidman MJ, Navsaria H, Leigh IM, Lane EB Nov 1993 "Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function" Nature Genetics 5 3: 294–300 PMID 7506097 doi:101038/ng1193-294 
    • Kouklis PD, Hutton E, Fuchs E Nov 1994 "Making a connection: direct binding between keratin intermediate filaments and desmosomal proteins" The Journal of Cell Biology 127 4: 1049–60 PMC 2200061  PMID 7525601 doi:101083/jcb12741049 
    • Stephens K, Zlotogorski A, Smith L, Ehrlich P, Wijsman E, Livingston RJ, Sybert VP Mar 1995 "Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function" American Journal of Human Genetics 56 3: 577–85 PMC 1801159  PMID 7534039 
    • Ehrlich P, Sybert VP, Spencer A, Stephens K May 1995 "A common keratin 5 gene mutation in epidermolysis bullosa simplex--Weber-Cockayne" The Journal of Investigative Dermatology 104 5: 877–9 PMID 7537780 doi:101111/1523-1747ep12607050 
    • Wanner R, Förster HH, Tilmans I, Mischke D Jun 1993 "Allelic variations of human keratins K4 and K5 provide polymorphic markers within the type II keratin gene cluster on chromosome 12" The Journal of Investigative Dermatology 100 6: 735–41 PMID 7684424 doi:101111/1523-1747ep12475671 
    • Dong W, Ryynänen M, Uitto J 1993 "Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex" Human Mutation 2 2: 94–102 PMID 7686424 doi:101002/humu1380020206 
    • Chan YM, Yu QC, Fine JD, Fuchs E Aug 1993 "The genetic basis of Weber-Cockayne epidermolysis bullosa simplex" Proceedings of the National Academy of Sciences of the United States of America 90 15: 7414–8 PMC 47148  PMID 7688477 doi:101073/pnas90157414 

    External linksedit

    • GeneReviews/NCBI/UW/NIH entry on Epidermolysis Bullosa Simplex
    • Keratin-5 at the US National Library of Medicine Medical Subject Headings MeSH

    keratin 5, keratin 5 antibody, keratin 5 day straight mousse, keratin 5 epidermis follicle, keratin 5 gene, keratin 5 in 1 curling iron, keratin 5 ureter epithelium, keratin 5% topical solution, keratin 5/14, keratin 500 mg

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    Keratin 5

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