Keratin 5
From Wikipedia, the free encyclopedia
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Keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)
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| Identifiers | ||||||||||||||
| Symbol(s) | KRT5; CK5; DDD; EBS2; K5; KRT5A | |||||||||||||
| External IDs | OMIM: 148040 MGI: 96702 HomoloGene: 55461 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
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| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 3852 | 110308 | ||||||||||||
| Ensembl | ENSG00000186081 | ENSMUSG00000061527 | ||||||||||||
| Uniprot | P13647 | Q32P04 | ||||||||||||
| Refseq | NM_000424 (mRNA) NP_000415 (protein) |
NM_027011 (mRNA) NP_081287 (protein) |
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| Location | Chr 12: 51.19 - 51.2 Mb | Chr 15: 101.54 - 101.54 Mb | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
Keratin 5 is a keratin protein often paired with keratin 14.
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 basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13.[1]
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[edit] See also
[edit] References
[edit] Further reading
- Schuilenga-Hut PH, Vlies P, Jonkman MF, et al. (2003). "Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.". Hum. Mutat. 21 (4): 447. doi:. PMID 12655565.
- Seibert JA, Boone JM (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 (1993). "Regulation of epidermal keratin expression by retinoic acid and thyroid hormone.". J. Dermatol. 19 (11): 774–80. PMID 1284070.
- Lane EB, Rugg EL, Navsaria H, et al. (1992). "A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering.". Nature 356 (6366): 244–6. doi:. PMID 1372711.
- Tavakkol A, Griffiths CE, Keane KM, et al. (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.". J. Invest. Dermatol. 99 (2): 146–50. PMID 1378478.
- Rosenberg M, Fuchs E, Le Beau MM, et al. (1991). "Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12.". Cytogenet. Cell Genet. 57 (1): 33–8. PMID 1713141.
- Ryynänen M, Knowlton RG, Uitto J (1991). "Mapping of epidermolysis bullosa simplex mutation to chromosome 12.". Am. J. Hum. Genet. 49 (5): 978–84. PMID 1718160.
- Bonifas JM, Rothman AL, Epstein EH (1991). "Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities.". Science 254 (5035): 1202–5. PMID 1720261.
- Lersch R, Fuchs E (1988). "Sequence and expression of a type II keratin, K5, in human epidermal cells.". Mol. Cell. Biol. 8 (1): 486–93. PMID 2447486.
- Galup C, Darmon MY (1988). "Isolation and characterization of a cDNA clone coding for human epidermal keratin K5. Sequence of the carboxyterminal half of this keratin.". J. Invest. Dermatol. 91 (1): 39–42. PMID 2455002.
- Eckert RL, Rorke EA (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.
- Lersch R, Stellmach V, Stocks C, et al. (1989). "Isolation, sequence, and expression of a human keratin K5 gene: transcriptional regulation of keratins and insights into pairwise control.". Mol. Cell. Biol. 9 (9): 3685–97. PMID 2476664.
- Rugg EL, Morley SM, Smith FJ, et al. (1994). "Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function.". Nat. Genet. 5 (3): 294–300. doi:. PMID 7506097.
- Chan YM, Yu QC, LeBlanc-Straceski J, et al. (1994). "Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex.". J. Cell. Sci. 107 ( Pt 4): 765–74. PMID 7520042.
- Kouklis PD, Hutton E, Fuchs E (1994). "Making a connection: direct binding between keratin intermediate filaments and desmosomal proteins.". J. Cell Biol. 127 (4): 1049–60. PMID 7525601.
- Stephens K, Zlotogorski A, Smith L, et al. (1995). "Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function.". Am. J. Hum. Genet. 56 (3): 577–85. PMID 7534039.
- Ehrlich P, Sybert VP, Spencer A, Stephens K (1995). "A common keratin 5 gene mutation in epidermolysis bullosa simplex--Weber-Cockayne.". J. Invest. Dermatol. 104 (5): 877–9. PMID 7537780.
- Wanner R, Förster HH, Tilmans I, Mischke D (1993). "Allelic variations of human keratins K4 and K5 provide polymorphic markers within the type II keratin gene cluster on chromosome 12.". J. Invest. Dermatol. 100 (6): 735–41. PMID 7684424.
- 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.". Hum. Mutat. 2 (2): 94–102. doi:. PMID 7686424.
- Chan YM, Yu QC, Fine JD, Fuchs E (1993). "The genetic basis of Weber-Cockayne epidermolysis bullosa simplex.". Proc. Natl. Acad. Sci. U.S.A. 90 (15): 7414–8. PMID 7688477.
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