From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
KRT14 Available structures
PDB Ortholog search:
PDBe
RCSB List of PDB id codes
3TNU
Identifiers
Aliases
KRT14 , CK14, EBS3, EBS4, K14, NFJ, keratin 14, EBS1D, EBS1, EBS1B, EBS1A, EBS1CExternal IDs
OMIM :
148066
MGI :
96688
HomoloGene :
110439
GeneCards :
KRT14
Wikidata
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.
[5]
Keratin 14 is also known as cytokeratin-14 (CK-14 ) or keratin-14 (KRT14 ). In humans it is encoded by the KRT14
gene .
[6]
[7]
[8]
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
[9] and
dermatopathia pigmentosa reticularis , both of which are autosomal dominant mutations.
[10]
See also
References
^
a
b
c
GRCh38: Ensembl release 89: ENSG00000186847 –
Ensembl , May 2017
^
a
b
c
GRCm38: Ensembl release 89: ENSMUSG00000045545 –
Ensembl , May 2017
^
"Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
"Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ Hanukoglu I, Fuchs E (November 1982).
"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 .
S2CID
35796315 .
^ Coulombe PA, Hutton ME, Letai A, Hebert A, Paller AS, Fuchs E (September 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 .
S2CID
11965913 .
^ Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, et al. (July 2006).
"New consensus nomenclature for mammalian keratins" . The Journal of Cell Biology . 174 (2): 169–74.
doi :
10.1083/jcb.200603161 .
PMC
2064177 .
PMID
16831889 .
^
"Entrez Gene: KRT14 keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)" .
^ Bardhan A, Bruckner-Tuderman L, Chapple IL, Fine JD, Harper N, Has C, et al. (September 2020). "Epidermolysis bullosa". Nature Reviews. Disease Primers . 6 (1): 78.
doi :
10.1038/s41572-020-0210-0 .
PMID
32973163 .
S2CID
221861310 .
^ Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, et al. (October 2006).
"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.
doi :
10.1086/507792 .
PMC
1592572 .
PMID
16960809 .
Further reading
Schuilenga-Hut PH, van der Vlies P, Jonkman MF, Waanders E, Buys CH, Scheffer H (April 2003).
"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.
doi :
10.1002/humu.9124 .
PMID
12655565 .
S2CID
20859513 .
Rosenberg M, Fuchs E, Le Beau MM, Eddy RL, Shows TB (1991). "Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12". Cytogenetics and Cell Genetics . 57 (1): 33–8.
doi :
10.1159/000133109 .
PMID
1713141 .
Bonifas JM, Rothman AL, Epstein EH (November 1991). "Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities". Science . 254 (5035): 1202–5.
Bibcode :
1991Sci...254.1202B .
doi :
10.1126/science.1720261 .
PMID
1720261 .
Albers K, Fuchs E (August 1987).
"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.
doi :
10.1083/jcb.105.2.791 .
PMC
2114764 .
PMID
2442174 .
Rosenberg M, RayChaudhury A, Shows TB, Le Beau MM, Fuchs E (February 1988).
"A group of type I keratin genes on human chromosome 17: characterization and expression" . Molecular and Cellular Biology . 8 (2): 722–36.
doi :
10.1128/mcb.8.2.722 .
PMC
363198 .
PMID
2451124 .
Marchuk D, McCrohon S, Fuchs E (March 1985).
"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.
Bibcode :
1985PNAS...82.1609M .
doi :
10.1073/pnas.82.6.1609 .
PMC
397321 .
PMID
2580298 .
Marchuk D, McCrohon S, Fuchs E (December 1984). "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 .
S2CID
32897738 .
Rugg EL, Morley SM, Smith FJ, Boxer M, Tidman MJ, Navsaria H, et al. (November 1993). "Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function". Nature Genetics . 5 (3): 294–300.
doi :
10.1038/ng1193-294 .
PMID
7506097 .
S2CID
155219 .
Chen MA, Bonifas JM, Matsumura K, Blumenfeld A, Epstein EH (November 1993). "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.
doi :
10.1093/hmg/2.11.1971 .
PMID
7506606 .
Chan Y, Anton-Lamprecht I, Yu QC, Jäckel A, Zabel B, Ernst JP, Fuchs E (November 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 & Development . 8 (21): 2574–87.
doi :
10.1101/gad.8.21.2574 .
PMID
7525408 .
Yamanishi K, Matsuki M, Konishi K, Yasuno H (July 1994). "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.
doi :
10.1093/hmg/3.7.1171 .
PMID
7526926 .
Hovnanian A, Pollack E, Hilal L, Rochat A, Prost C, Barrandon Y, Goossens M (April 1993). "A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex". Nature Genetics . 3 (4): 327–32.
doi :
10.1038/ng0493-327 .
PMID
7526933 .
S2CID
20287067 .
Chen H, Bonifas JM, Matsumura K, Ikeda S, Leyden WA, Epstein EH (October 1995).
"Keratin 14 gene mutations in patients with epidermolysis bullosa simplex" . The Journal of Investigative Dermatology . 105 (4): 629–32.
doi :
10.1111/1523-1747.ep12323846 .
PMID
7561171 .
Humphries MM, Sheils DM, Farrar GJ, Kumar-Singh R, Kenna PF, Mansergh FC, et al. (1993).
"A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex" . Human Mutation . 2 (1): 37–42.
doi :
10.1002/humu.1380020107 .
PMID
7682883 .
S2CID
8054726 .
Stephens K, Sybert VP, Wijsman EM, Ehrlich P, Spencer A (August 1993).
"A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis" . The Journal of Investigative Dermatology . 101 (2): 240–3.
doi :
10.1111/1523-1747.ep12365079 .
PMID
7688405 .
Chan YM, Cheng J, Gedde-Dahl T, Niemi KM, Fuchs E (February 1996).
"Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex" . The Journal of Investigative Dermatology . 106 (2): 327–34.
doi :
10.1111/1523-1747.ep12342985 .
PMID
8601736 .
Paladini RD, Takahashi K, Bravo NS, Coulombe PA (February 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" . The Journal of Cell Biology . 132 (3): 381–97.
doi :
10.1083/jcb.132.3.381 .
PMC
2120730 .
PMID
8636216 .
External links