Keratin 1

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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View/Edit Human

Keratin 1 is a member of the keratin family. It is specifically expressed in the spinous and granular layers of the epidermis with family member keratin 10. Mutations in this gene have been associated with the variants of bullous congenital ichthyosiform erythroderma in which the palms and soles of the feet are affected.

This gene, of the keratin family, is formed by type II cytokeratins set in pairs in a heterotypic chain, which are shown throughout the differentiation of epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis. Connections between mutations in the Keratin family and bullous congenital ichthyosiform erythroderma have been made, on account of type II cytokeratins being found clustered in a region of chromosomes 12q12-q13.[1]


Interactions

Keratin 1 has been shown to interact with Desmoplakin[2] and PRKCE.[3]

See also

References

  1. "Entrez Gene: KRT1 keratin 1 (epidermolytic hyperkeratosis)".
  2. Meng, J J; Bornslaeger E A; Green K J; Steinert P M; Ip W (Aug 1997). "Two-hybrid analysis reveals fundamental differences in direct interactions between desmoplakin and cell type-specific intermediate filaments". J. Biol. Chem. UNITED STATES. 272 (34): 21495–503. doi:10.1074/jbc.272.34.21495. ISSN 0021-9258. PMID 9261168.
  3. England, Karen; Ashford David; Kidd Daniel; Rumsby Martin (Jun 2002). "PKC epsilon is associated with myosin IIA and actin in fibroblasts". Cell. Signal. England. 14 (6): 529–36. doi:10.1016/S0898-6568(01)00277-7. ISSN 0898-6568. PMID 11897493.

Further reading



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