Keratin 1

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KRT1
Identifiers
Aliases KRT1, CK1, EHK, EHK1, EPPK, K1, KRT1A, NEPPK, keratin 1
External IDs OMIM: 139350 MGI: 96698 HomoloGene: 38146 GeneCards: 3848
RNA expression pattern
PBB GE KRT1 205900 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006121

NM_008473

RefSeq (protein)

NP_006112.3

NP_032499.2

Location (UCSC) Chr 12: 52.67 – 52.68 Mb Chr 15: 101.85 – 101.85 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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.

The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13.[1]

Interactions[edit]

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

See also[edit]

References[edit]

  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[edit]