Aliases for KRT1 Gene
External Ids for KRT1 Gene
Previous HGNC Symbols for KRT1 Gene
Previous GeneCards Identifiers for KRT1 Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for KRT1 Gene
KRT1 (Keratin 1, Type II) is a Protein Coding gene. Diseases associated with KRT1 include ichthyosis, cyclic, with epidermolytic hyperkeratosis and palmoplantar keratoderma, nonepidermolytic. Among its related pathways are Regulation of Wnt-mediated beta catenin signaling and target gene transcription and Corticotropin-releasing hormone. GO annotations related to this gene include receptor activity and carbohydrate binding. An important paralog of this gene is KRT82.
UniProtKB/Swiss-Prot for KRT1 Gene
May regulate the activity of kinases such as PKC and SRC via binding to integrin beta-1 (ITB1) and the receptor of activated protein kinase C (RACK1/GNB2L1). In complex with C1QBP is a high affinity receptor for kininogen-1/HMWK.