Keratin 14

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]

KRT14
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesKRT14, CK14, EBS3, EBS4, K14, NFJ, keratin 14
External IDsOMIM: 148066 MGI: 96688 HomoloGene: 110439 GeneCards: KRT14
Gene location (Human)
Chr.Chromosome 17 (human)[1]
Band17q21.2Start41,582,279 bp[1]
End41,586,895 bp[1]
RNA expression pattern
More reference expression data
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: 100.2 – 100.21 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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 and dermatopathia pigmentosa reticularis, both of which are autosomal dominant mutations.[9]

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000186847 - Ensembl, May 2017
  2. 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 (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.
  6. Coulombe PA, Hutton ME, Letai A, Hebert A, Paller AS, Fuchs E (Sep 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.
  7. 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". 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. 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 (Oct 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

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.