Keratin 14

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Keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)
Identifiers
Symbol(s) KRT14; CK14; EBS3; EBS4; K14
External IDs OMIM: 148066 MGI: 96688 HomoloGene: 81522
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 3861 16664
Ensembl ENSG00000186847 ENSMUSG00000045545
Uniprot P02533 Q61782
Refseq NM_000526 (mRNA)
NP_000517 (protein)		 NM_016958 (mRNA)
NP_058654 (protein)
Location Chr 17: 36.99 - 37 Mb Chr 11: 100.02 - 100.02 Mb
Pubmed search [1] [2]

Keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner), also known as KRT14, is a human gene.[1]

Keratin 14 is a type I cytokeratin. It is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells.

[edit] Pathology

Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex and Dermatopathy Pigmentosa Reticularis, both of which are autosomal dominant mutations.[2]

[edit] References

  1. ^ Entrez Gene: KRT14 keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner).
  2. ^ Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E (2006). "Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14". Am. J. Hum. Genet. 79 (4): 724–30. doi:10.1086/507792. PMID 16960809. 

[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:10.1002/humu.9124. PMID 12655565. 
  • 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. 
  • Coulombe PA, Hutton ME, Letai A, et al. (1991). "Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses.". Cell 66 (6): 1301-11. doi:10.1016/0092-8674(91)90051-Y. PMID 1717157. 
  • Bonifas JM, Rothman AL, Epstein EH (1991). "Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities.". Science 254 (5035): 1202-5. doi:10.1126/science.1720261. PMID 1720261. 
  • Albers K, Fuchs E (1987). "The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines.". J. Cell Biol. 105 (2): 791-806. doi:10.1083/jcb.105.2.791. PMID 2442174. 
  • Rosenberg M, RayChaudhury A, Shows TB, et al. (1988). "A group of type I keratin genes on human chromosome 17: characterization and expression.". Mol. Cell. Biol. 8 (2): 722-36. PMID 2451124. 
  • Marchuk D, McCrohon S, Fuchs E (1985). "Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the regulatory region of the gene.". Proc. Natl. Acad. Sci. U.S.A. 82 (6): 1609-13. doi:10.1073/pnas.82.6.1609. PMID 2580298. 
  • Hanukoglu I, Fuchs E (1983). "The cDNA sequence of a human epidermal keratin: divergence of sequence but conservation of structure among intermediate filament proteins.". Cell 31 (1): 243-52. PMID 6186381. 
  • Marchuk D, McCrohon S, Fuchs E (1985). "Remarkable conservation of structure among intermediate filament genes.". Cell 39 (3 Pt 2): 491-8. PMID 6210150. 
  • 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:10.1038/ng1193-294. PMID 7506097. 
  • Chen MA, Bonifas JM, Matsumura K, et al. (1994). "A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375.". Hum. Mol. Genet. 2 (11): 1971-2. PMID 7506606. 
  • Chan Y, Anton-Lamprecht I, Yu QC, et al. (1994). "A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein.". Genes Dev. 8 (21): 2574-87. doi:10.1101/gad.8.21.2574. PMID 7525408. 
  • Yamanishi K, Matsuki M, Konishi K, Yasuno H (1995). "A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex.". Hum. Mol. Genet. 3 (7): 1171-2. PMID 7526926. 
  • Hovnanian A, Pollack E, Hilal L, et al. (1995). "A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.". Nat. Genet. 3 (4): 327-32. doi:10.1038/ng0493-327. PMID 7526933. 
  • Chen H, Bonifas JM, Matsumura K, et al. (1995). "Keratin 14 gene mutations in patients with epidermolysis bullosa simplex.". J. Invest. Dermatol. 105 (4): 629-32. doi:10.1111/1523-1747.ep12323846. PMID 7561171. 
  • Humphries MM, Sheils DM, Farrar GJ, et al. (1993). "A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.". Hum. Mutat. 2 (1): 37-42. doi:10.1002/humu.1380020107. PMID 7682883. 
  • Stephens K, Sybert VP, Wijsman EM, et al. (1993). "A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis.". J. Invest. Dermatol. 101 (2): 240-3. doi:10.1111/1523-1747.ep12365079. PMID 7688405. 
  • Chan YM, Cheng J, Gedde-Dahl T, et al. (1996). "Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex.". J. Invest. Dermatol. 106 (2): 327-34. doi:10.1111/1523-1747.ep12342985. PMID 8601736. 
  • Paladini RD, Takahashi K, Bravo NS, Coulombe PA (1996). "Onset of re-epithelialization after skin injury correlates with a reorganization of keratin filaments in wound edge keratinocytes: defining a potential role for keratin 16.". J. Cell Biol. 132 (3): 381-97. doi:10.1083/jcb.132.3.381. PMID 8636216. 
  • Jonkman MF, Heeres K, Pas HH, et al. (1996). "Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex.". J. Invest. Dermatol. 107 (5): 764-9. doi:10.1111/1523-1747.ep12365805. PMID 8875963. 
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Protein: fibrous proteins
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Keratin/Cytokeratin
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