KRT14
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesKRT14, CK14, EBS3, EBS4, K14, NFJ, keratin 14, EBS1D, EBS1, EBS1B, EBS1A, EBS1C
External IDsOMIM: 148066 MGI: 96688 HomoloGene: 110439 GeneCards: KRT14
Orthologs
SpeciesHumanMouse
Entrez

3861

16664

Ensembl

ENSG00000186847

ENSMUSG00000045545

UniProt

P02533

Q61781

RefSeq (mRNA)

NM_000526

NM_016958
NM_001313956
NM_001313957

RefSeq (protein)

NP_000517

NP_001300885
NP_001300886
NP_058654

Location (UCSC)Chr 17: 41.58 – 41.59 MbChr 11: 100.09 – 100.1 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000186847 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000045545 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
  7. ^ 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.
  8. ^ "Entrez Gene: KRT14 keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)".
  9. ^ 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.
  10. ^ 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

External links


Proteins of the cytoskeleton
Categories