Keratin 5

Keratin 5 is a keratin protein often paired with keratin 14.

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summary_text = 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. [cite web | title = Entrez Gene: KRT5 keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3852| accessdate = ]

ee also

* Epidermolysis bullosa simplex

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Schuilenga-Hut PH, Vlies P, Jonkman MF, "et al." |title=Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations. |journal=Hum. Mutat. |volume=21 |issue= 4 |pages= 447 |year= 2003 |pmid= 12655565 |doi= 10.1002/humu.9124
*cite journal | author=Seibert JA, Boone JM |title=X-ray imaging physics for nuclear medicine technologists. Part 2: X-ray interactions and image formation. |journal=Journal of nuclear medicine technology |volume=33 |issue= 1 |pages= 3–18 |year= 2005 |pmid= 15731015 |doi=
*cite journal | author=Ohtsuki M, Tomic-Canic M, Freedberg IM, Blumenberg M |title=Regulation of epidermal keratin expression by retinoic acid and thyroid hormone. |journal=J. Dermatol. |volume=19 |issue= 11 |pages= 774–80 |year= 1993 |pmid= 1284070 |doi=
*cite journal | author=Lane EB, Rugg EL, Navsaria H, "et al." |title=A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. |journal=Nature |volume=356 |issue= 6366 |pages= 244–6 |year= 1992 |pmid= 1372711 |doi= 10.1038/356244a0
*cite journal | author=Tavakkol A, Griffiths CE, Keane KM, "et al." |title=Cellular localization of mRNA for cellular retinoic acid-binding protein II and nuclear retinoic acid receptor-gamma 1 in retinoic acid-treated human skin. |journal=J. Invest. Dermatol. |volume=99 |issue= 2 |pages= 146–50 |year= 1992 |pmid= 1378478 |doi=
*cite journal | author=Rosenberg M, Fuchs E, Le Beau MM, "et al." |title=Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12. |journal=Cytogenet. Cell Genet. |volume=57 |issue= 1 |pages= 33–8 |year= 1991 |pmid= 1713141 |doi=
*cite journal | author=Ryynänen M, Knowlton RG, Uitto J |title=Mapping of epidermolysis bullosa simplex mutation to chromosome 12. |journal=Am. J. Hum. Genet. |volume=49 |issue= 5 |pages= 978–84 |year= 1991 |pmid= 1718160 |doi=
*cite journal | author=Bonifas JM, Rothman AL, Epstein EH |title=Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. |journal=Science |volume=254 |issue= 5035 |pages= 1202–5 |year= 1991 |pmid= 1720261 |doi=
*cite journal | author=Lersch R, Fuchs E |title=Sequence and expression of a type II keratin, K5, in human epidermal cells. |journal=Mol. Cell. Biol. |volume=8 |issue= 1 |pages= 486–93 |year= 1988 |pmid= 2447486 |doi=
*cite journal | author=Galup C, Darmon MY |title=Isolation and characterization of a cDNA clone coding for human epidermal keratin K5. Sequence of the carboxyterminal half of this keratin. |journal=J. Invest. Dermatol. |volume=91 |issue= 1 |pages= 39–42 |year= 1988 |pmid= 2455002 |doi=
*cite journal | author=Eckert RL, Rorke EA |title=The sequence of the human epidermal 58-kD (#5) type II keratin reveals an absence of 5' upstream sequence conservation between coexpressed epidermal keratins. |journal=DNA |volume=7 |issue= 5 |pages= 337–45 |year= 1988 |pmid= 2456903 |doi=
*cite journal | author=Lersch R, Stellmach V, Stocks C, "et al." |title=Isolation, sequence, and expression of a human keratin K5 gene: transcriptional regulation of keratins and insights into pairwise control. |journal=Mol. Cell. Biol. |volume=9 |issue= 9 |pages= 3685–97 |year= 1989 |pmid= 2476664 |doi=
*cite journal | author=Rugg EL, Morley SM, Smith FJ, "et al." |title=Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function. |journal=Nat. Genet. |volume=5 |issue= 3 |pages= 294–300 |year= 1994 |pmid= 7506097 |doi= 10.1038/ng1193-294
*cite journal | author=Chan YM, Yu QC, LeBlanc-Straceski J, "et al." |title=Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex. |journal=J. Cell. Sci. |volume=107 ( Pt 4) |issue= |pages= 765–74 |year= 1994 |pmid= 7520042 |doi=
*cite journal | author=Kouklis PD, Hutton E, Fuchs E |title=Making a connection: direct binding between keratin intermediate filaments and desmosomal proteins. |journal=J. Cell Biol. |volume=127 |issue= 4 |pages= 1049–60 |year= 1994 |pmid= 7525601 |doi=
*cite journal | author=Stephens K, Zlotogorski A, Smith L, "et al." |title=Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function. |journal=Am. J. Hum. Genet. |volume=56 |issue= 3 |pages= 577–85 |year= 1995 |pmid= 7534039 |doi=
*cite journal | author=Ehrlich P, Sybert VP, Spencer A, Stephens K |title=A common keratin 5 gene mutation in epidermolysis bullosa simplex--Weber-Cockayne. |journal=J. Invest. Dermatol. |volume=104 |issue= 5 |pages= 877–9 |year= 1995 |pmid= 7537780 |doi=
*cite journal | author=Wanner R, Förster HH, Tilmans I, Mischke D |title=Allelic variations of human keratins K4 and K5 provide polymorphic markers within the type II keratin gene cluster on chromosome 12. |journal=J. Invest. Dermatol. |volume=100 |issue= 6 |pages= 735–41 |year= 1993 |pmid= 7684424 |doi=
*cite journal | author=Dong W, Ryynänen M, Uitto J |title=Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex. |journal=Hum. Mutat. |volume=2 |issue= 2 |pages= 94–102 |year= 1993 |pmid= 7686424 |doi= 10.1002/humu.1380020206
*cite journal | author=Chan YM, Yu QC, Fine JD, Fuchs E |title=The genetic basis of Weber-Cockayne epidermolysis bullosa simplex. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=90 |issue= 15 |pages= 7414–8 |year= 1993 |pmid= 7688477 |doi=

External links

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