Keratin 14

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Keratin 14
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols KRT14 ; CK14; EBS3; EBS4; K14; NFJ
External IDs OMIM148066 MGI96688 HomoloGene110439 GeneCards: KRT14 Gene
RNA expression pattern
PBB GE KRT14 209351 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 3861 16664
Ensembl ENSG00000186847 ENSMUSG00000045545
UniProt P02533 Q61781
RefSeq (mRNA) NM_000526 NM_016958
RefSeq (protein) NP_000517 NP_058654
Location (UCSC) Chr 17:
39.74 – 39.74 Mb
Chr 11:
100.2 – 100.21 Mb
PubMed search [1] [2]

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[edit]

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

See also[edit]

References[edit]

  1. ^ Hanukoglu, I.; Fuchs, E. (Nov 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. 
  2. ^ 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. 
  3. ^ 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. 
  4. ^ "Entrez Gene: KRT14 keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)". 
  5. ^ 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. 

Further reading[edit]

External links[edit]