Keratin 14

Keratin 14
Identifiers
Symbols	KRT14; CK14; EBS3; EBS4; K14; NFJ
External IDs	OMIM: 148066 MGI: 96688 HomoloGene: 110439 GeneCards: KRT14 Gene
Gene Ontology Molecular function • structural constituent of cytoskeleton • protein binding Cellular component • intracellular • nucleus • nucleolus • cytoplasm • mitochondrion • cytosol • intermediate filament • keratin filament Biological process • epidermis development • response to zinc ion • response to ionizing radiation • epithelial cell differentiation • hemidesmosome assembly • cell junction assembly • intermediate filament bundle assembly Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	3861	16664
Ensembl	ENSG00000186847	ENSMUSG00000045545
UniProt	P02533	Q61782
RefSeq (mRNA)	NM_000526.4	NM_016958.1
RefSeq (protein)	NP_000517.2	NP_058654.1
Location (UCSC)	Chr 17: 39.74 – 39.74 Mb	Chr 11: 100.06 – 100.07 Mb
PubMed search	[1]	[2]

Keratin, type I cytoskeletal 14 also known as cytokeratin-14 (CK-14) or keratin-14 (K14) is a protein that in humans is encoded by the KRT14 gene.^[1][2][3]

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

Pathology

Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex and Dermatopathia pigmentosa reticularis, both of which are autosomal dominant mutations.^[4]

See also

• 34βE12 (keratin 903)

References

1. ^ Coulombe PA, Hutton ME, Letai A, Hebert A, Paller AS, Fuchs E (Oct 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. 
2. ^ Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, Maltais L, Omary MB, Parry DA, Rogers MA, Wright MW (Jul 2006). "New consensus nomenclature for mammalian keratins". J Cell Biol 174 (2): 169–74. doi:10.1083/jcb.200603161. PMC 2064177. PMID 16831889. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2064177. 
3. ^ "Entrez Gene: KRT14 keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3861. 
4. ^ 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. PMC 1592572. PMID 16960809. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1592572. 

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. doi:10.1159/000133109. PMID 1713141. 
• 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. PMC 2114764. PMID 2442174. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2114764. 
• 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. PMC 363198. PMID 2451124. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=363198. 
• 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. PMC 397321. PMID 2580298. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=397321. 
• 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. doi:10.1016/0092-8674(82)90424-X. PMID 6186381. 
• Marchuk D, McCrohon S, Fuchs E (1985). "Remarkable conservation of structure among intermediate filament genes". Cell 39 (3 Pt 2): 491–8. doi:10.1016/0092-8674(84)90456-2. 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. doi:10.1093/hmg/2.11.1971. 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. doi:10.1093/hmg/3.7.1171. 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. PMC 2120730. PMID 8636216. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2120730. 

External links

• GeneReviews/NCBI/UW/NIH entry on Epidermolysis Bullosa Simplex