KRT1 Back

keratin 1 (epidermolytic hyperkeratosis)

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NCBI Description of KRT1
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.

Community Annotation of KRT1 Add / Edit KRT1: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

KRT1 is highly significantly mutated in
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KRT1 is significantly mutated in
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KRT1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for KRT1