Keratin 14: Difference between revisions

{{Short description|Protein-coding gene in the species Homo sapiens}}

'''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.<ref name="pmid6186381">{{cite journal | vauthors = Hanukoglu I, Fuchs E | title = The cDNA sequence of a human epidermal keratin: divergence of sequence but conservation of structure among intermediate filament proteins | journal = Cell | volume = 31 | issue = 1 | pages = 243–52 | date = November 1982 | pmid = 6186381 | doi = 10.1016/0092-8674(82)90424-X | s2cid = 35796315 | url = https://zenodo.org/record/890743 }}</ref>

Keratin 14 is also known as '''cytokeratin-14''' ('''CK-14''') or '''keratin-14''' ('''KRT14'''). In humans it is encoded by the ''KRT14'' [[gene]].<ref name="pmid1717157">{{cite journal | vauthors = Coulombe PA, Hutton ME, Letai A, Hebert A, Paller AS, Fuchs E | title = Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses | journal = Cell | volume = 66 | issue = 6 | pages = 1301–11 | date = September 1991 | pmid = 1717157 | doi = 10.1016/0092-8674(91)90051-Y | s2cid = 11965913 }}</ref><ref name="pmid16831889">{{cite journal | vauthors = Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, Maltais L, Omary MB, Parry DA, Rogers MA, Wright MW | display-authors = 6 | title = New consensus nomenclature for mammalian keratins | journal = The Journal of Cell Biology | volume = 174 | issue = 2 | pages = 169–74 | date = July 2006 | pmid = 16831889 | pmc = 2064177 | doi = 10.1083/jcb.200603161 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: KRT14 keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3861}}</ref>

Mutations in the genes for these keratins are associated with [[epidermolysis bullosa]] simplex<ref>{{cite journal | vauthors = 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 | display-authors = 6 | title = Epidermolysis bullosa | journal = Nature Reviews. Disease Primers | volume = 6 | issue = 1 | pages = 78 | date = September 2020 | pmid = 32973163 | doi = 10.1038/s41572-020-0210-0 | s2cid = 221861310 }}</ref> and [[dermatopathia pigmentosa reticularis]], both of which are autosomal dominant mutations.<ref name="pmid16960809">{{cite journal | vauthors = 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 | display-authors = 6 | title = Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14 | journal = American Journal of Human Genetics | volume = 79 | issue = 4 | pages = 724–30 | date = October 2006 | pmid = 16960809 | pmc = 1592572 | doi = 10.1086/507792 }}</ref>

* {{cite journal | vauthors = Schuilenga-Hut PH, van der Vlies P, Jonkman MF, Waanders E, Buys CH, Scheffer H | title = Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations | journal = Human Mutation | volume = 21 | issue = 4 | pages = 447 | date = April 2003 | pmid = 12655565 | doi = 10.1002/humu.9124 | s2cid = 20859513 | doi-access = free }}

* {{cite journal | vauthors = 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 | date = November 1991 | pmid = 1720261 | doi = 10.1126/science.1720261 | bibcode = 1991Sci...254.1202B }}

* {{cite journal | vauthors = Albers K, Fuchs E | title = The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines | journal = The Journal of Cell Biology | volume = 105 | issue = 2 | pages = 791–806 | date = August 1987 | pmid = 2442174 | pmc = 2114764 | doi = 10.1083/jcb.105.2.791 }}

* {{cite journal | vauthors = Rosenberg M, RayChaudhury A, Shows TB, Le Beau MM, Fuchs E | title = A group of type I keratin genes on human chromosome 17: characterization and expression | journal = Molecular and Cellular Biology | volume = 8 | issue = 2 | pages = 722–36 | date = February 1988 | pmid = 2451124 | pmc = 363198 | doi = 10.1128/mcb.8.2.722 }}

* {{cite journal | vauthors = Marchuk D, McCrohon S, Fuchs E | title = Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the regulatory region of the gene | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 82 | issue = 6 | pages = 1609–13 | date = March 1985 | pmid = 2580298 | pmc = 397321 | doi = 10.1073/pnas.82.6.1609 | doi-access = free | bibcode = 1985PNAS...82.1609M }}

* {{cite journal | vauthors = Marchuk D, McCrohon S, Fuchs E | title = Remarkable conservation of structure among intermediate filament genes | journal = Cell | volume = 39 | issue = 3 Pt 2 | pages = 491–8 | date = December 1984 | pmid = 6210150 | doi = 10.1016/0092-8674(84)90456-2 | s2cid = 32897738 }}

* {{cite journal | vauthors = Rugg EL, Morley SM, Smith FJ, Boxer M, Tidman MJ, Navsaria H, Leigh IM, Lane EB | display-authors = 6 | title = Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function | journal = Nature Genetics | volume = 5 | issue = 3 | pages = 294–300 | date = November 1993 | pmid = 7506097 | doi = 10.1038/ng1193-294 | s2cid = 155219 }}

* {{cite journal | vauthors = Chen MA, Bonifas JM, Matsumura K, Blumenfeld A, Epstein EH | title = A novel three-nucleotide deletion in the helix 2B region of keratin 14inepidermolysis bullosa simplex: delta E375 | journal = Human Molecular Genetics | volume = 2 | issue = 11 | pages = 1971–2 | date = November 1993 | pmid = 7506606 | doi = 10.1093/hmg/2.11.1971 }}

* {{cite journal | vauthors = Chan Y, Anton-Lamprecht I, Yu QC, Jäckel A, Zabel B, Ernst JP, Fuchs E | title = A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein | journal = Genes & Development | volume = 8 | issue = 21 | pages = 2574–87 | date = November 1994 | pmid = 7525408 | doi = 10.1101/gad.8.21.2574 | doi-access = free }}

* {{cite journal | vauthors = Yamanishi K, Matsuki M, Konishi K, Yasuno H | title = 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 | journal = Human Molecular Genetics | volume = 3 | issue = 7 | pages = 1171–2 | date = July 1994 | pmid = 7526926 | doi = 10.1093/hmg/3.7.1171 }}

* {{cite journal | vauthors = Hovnanian A, Pollack E, Hilal L, RochatA, Prost C, Barrandon Y, Goossens M | title = A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex | journal = Nature Genetics | volume = 3 | issue = 4 | pages = 327–32 | date = April 1993 | pmid = 7526933 | doi = 10.1038/ng0493-327 | s2cid = 20287067 }}

* {{cite journal | vauthors = Chen H, Bonifas JM, Matsumura K, Ikeda S, Leyden WA, Epstein EH | title = Keratin 14 gene mutationsinpatients with epidermolysis bullosa simplex | journal = The Journal of Investigative Dermatology | volume = 105 | issue = 4 | pages = 629–32 | date = October 1995 | pmid = 7561171 | doi = 10.1111/1523-1747.ep12323846 | doi-access = free }}

* {{cite journal | vauthors = Humphries MM, Sheils DM, Farrar GJ, Kumar-Singh R, Kenna PF, Mansergh FC, Jordan SA, Young M, Humphries P | display-authors = 6 | title = A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex | journal = Human Mutation | volume = 2 | issue = 1 | pages = 37–42 | year = 1993 | pmid = 7682883 | doi = 10.1002/humu.1380020107 | s2cid = 8054726 | doi-access = free }}

* {{cite journal | vauthors = Stephens K, Sybert VP, Wijsman EM, Ehrlich P, Spencer A | title = A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis | journal = The Journal of Investigative Dermatology | volume = 101 | issue = 2 | pages = 240–3 | date = August 1993 | pmid = 7688405 | doi = 10.1111/1523-1747.ep12365079 | doi-access = free }}

* {{cite journal | vauthors = Chan YM, Cheng J, Gedde-Dahl T, Niemi KM, Fuchs E | title = Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex | journal = The Journal of Investigative Dermatology | volume = 106 | issue = 2 | pages = 327–34 | date = February 1996 | pmid = 8601736 | doi = 10.1111/1523-1747.ep12342985 | doi-access = free }}

* {{cite journal | vauthors = Paladini RD, Takahashi K, Bravo NS, Coulombe PA | title = Onsetofre-epithelialization after skin injury correlates with a reorganizationofkeratin filaments in wound edge keratinocytes: defining a potential role for keratin 16 | journal = The Journal of Cell Biology | volume = 132 | issue = 3 | pages = 381–97 | date = February 1996 | pmid = 8636216 | pmc = 2120730 | doi = 10.1083/jcb.132.3.381 }}

{{Gene-17-stub}}