Keratin 14 Explained

Keratin 14 is a member of the type I keratin family of intermediate filament proteins. Keratin 14 was the first type I keratin sequence determined.^[1] Keratin 14 is also known as cytokeratin-14 (CK-14) or keratin-14 (KRT14). In humans it is encoded by the KRT14 gene.^{[2] [3] [4]}

Keratin 14 is usually found as a heterodimer with type II keratin 5 and form the cytoskeleton of epithelial cells.

Pathology

Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex^[5] and dermatopathia pigmentosa reticularis, both of which are autosomal dominant mutations.^[6]

See also

• 34βE12 (keratin 903)

Further reading

• Schuilenga-Hut PH, van der Vlies P, Jonkman MF, Waanders E, Buys CH, Scheffer H . 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 . April 2003 . 12655565 . 10.1002/humu.9124 . 20859513 . free .
• Rosenberg M, Fuchs E, Le Beau MM, Eddy RL, Shows TB . Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12 . Cytogenetics and Cell Genetics . 57 . 1 . 33–8 . 1991 . 1713141 . 10.1159/000133109 .
• Bonifas JM, Rothman AL, Epstein EH . Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities . Science . 254 . 5035 . 1202–5 . November 1991 . 1720261 . 10.1126/science.1720261 . 1991Sci...254.1202B .
• Albers K, Fuchs E . The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines . The Journal of Cell Biology . 105 . 2 . 791–806 . August 1987 . 2442174 . 2114764 . 10.1083/jcb.105.2.791 .
• Rosenberg M, RayChaudhury A, Shows TB, Le Beau MM, Fuchs E . A group of type I keratin genes on human chromosome 17: characterization and expression . Molecular and Cellular Biology . 8 . 2 . 722–36 . February 1988 . 2451124 . 363198 . 10.1128/mcb.8.2.722 .
• Marchuk D, McCrohon S, Fuchs E . Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the regulatory region of the gene . Proceedings of the National Academy of Sciences of the United States of America . 82 . 6 . 1609–13 . March 1985 . 2580298 . 397321 . 10.1073/pnas.82.6.1609 . free . 1985PNAS...82.1609M .
• Marchuk D, McCrohon S, Fuchs E . Remarkable conservation of structure among intermediate filament genes . Cell . 39 . 3 Pt 2 . 491–8 . December 1984 . 6210150 . 10.1016/0092-8674(84)90456-2 . 32897738 .
• Rugg EL, Morley SM, Smith FJ, Boxer M, Tidman MJ, Navsaria H, Leigh IM, Lane EB . 6 . Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function . Nature Genetics . 5 . 3 . 294–300 . November 1993 . 7506097 . 10.1038/ng1193-294 . 155219 .
• Chen MA, Bonifas JM, Matsumura K, Blumenfeld A, Epstein EH . A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375 . Human Molecular Genetics . 2 . 11 . 1971–2 . November 1993 . 7506606 . 10.1093/hmg/2.11.1971 .
• Chan Y, Anton-Lamprecht I, Yu QC, Jäckel A, Zabel B, Ernst JP, Fuchs E . A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein . Genes & Development . 8 . 21 . 2574–87 . November 1994 . 7525408 . 10.1101/gad.8.21.2574 . free .
• Yamanishi K, Matsuki M, Konishi K, Yasuno H . 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 . Human Molecular Genetics . 3 . 7 . 1171–2 . July 1994 . 7526926 . 10.1093/hmg/3.7.1171 .
• Hovnanian A, Pollack E, Hilal L, Rochat A, Prost C, Barrandon Y, Goossens M . A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex . Nature Genetics . 3 . 4 . 327–32 . April 1993 . 7526933 . 10.1038/ng0493-327 . 20287067 .
• Chen H, Bonifas JM, Matsumura K, Ikeda S, Leyden WA, Epstein EH . Keratin 14 gene mutations in patients with epidermolysis bullosa simplex . The Journal of Investigative Dermatology . 105 . 4 . 629–32 . October 1995 . 7561171 . 10.1111/1523-1747.ep12323846 . free .
• Humphries MM, Sheils DM, Farrar GJ, Kumar-Singh R, Kenna PF, Mansergh FC, Jordan SA, Young M, Humphries P . 6 . A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex . Human Mutation . 2 . 1 . 37–42 . 1993 . 7682883 . 10.1002/humu.1380020107 . 8054726 . free .
• Stephens K, Sybert VP, Wijsman EM, Ehrlich P, Spencer A . A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis . The Journal of Investigative Dermatology . 101 . 2 . 240–3 . August 1993 . 7688405 . 10.1111/1523-1747.ep12365079 . free .
• Chan YM, Cheng J, Gedde-Dahl T, Niemi KM, Fuchs E . Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex . The Journal of Investigative Dermatology . 106 . 2 . 327–34 . February 1996 . 8601736 . 10.1111/1523-1747.ep12342985 . free .
• Paladini RD, Takahashi K, Bravo NS, Coulombe PA . 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 . The Journal of Cell Biology . 132 . 3 . 381–97 . February 1996 . 8636216 . 2120730 . 10.1083/jcb.132.3.381 .

External links

• GeneReviews/NCBI/UW/NIH entry on Epidermolysis Bullosa Simplex
• Proteopedia page on keratins

Notes and References

1. Hanukoglu I, Fuchs E . The cDNA sequence of a human epidermal keratin: divergence of sequence but conservation of structure among intermediate filament proteins . Cell . 31 . 1 . 243–52 . November 1982 . 6186381 . 10.1016/0092-8674(82)90424-X . 35796315 .
2. Coulombe PA, Hutton ME, Letai A, Hebert A, Paller AS, Fuchs E . Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses . Cell . 66 . 6 . 1301–11 . September 1991 . 1717157 . 10.1016/0092-8674(91)90051-Y . 11965913 .
3. Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, Maltais L, Omary MB, Parry DA, Rogers MA, Wright MW . 6 . New consensus nomenclature for mammalian keratins . The Journal of Cell Biology . 174 . 2 . 169–74 . July 2006 . 16831889 . 2064177 . 10.1083/jcb.200603161 .
4. Web site: Entrez Gene: KRT14 keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner).
5. Bardhan A, Bruckner-Tuderman L, Chapple IL, Fine JD, Harper N, Has C, Magin TM, Marinkovich MP, Marshall JF, McGrath JA, Mellerio JE, Polson R, Heagerty AH . 6 . Epidermolysis bullosa . Nature Reviews. Disease Primers . 6 . 1 . 78 . September 2020 . 32973163 . 10.1038/s41572-020-0210-0 . 221861310 .
6. 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 . 6 . Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14 . American Journal of Human Genetics . 79 . 4 . 724–30 . October 2006 . 16960809 . 1592572 . 10.1086/507792 .