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Description for Protein KRT1

keratin 1
15 total interacting proteins; 8 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 4/1)
(alpha granules: 1; membrane: 1; platelet: 1; secretome: 1; undefined: 1)
Summary:
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] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil

  • Gene Ontology:
    Gene Ontology Annotations

    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K07605
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Cytokeratin; Keratin, type II cytoskeletal 1; Cytokeratin 1; K1; CK 1; 67 kDa cytokeratin; Hair alpha protein
    Approved Symbol:
    KRT1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 18
    Human (de-) phosphorylation sites: 18; No platelet phosphorylation sites

    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available


    Associated Genetic Diseases:

  • Bullous congenital ichthyosiform erythroderma(Pd);
  • Epidermolytic hyperkeratosis(Pd);
  • Epidermolytic hyperkeratosis, late-onset(Pd);
  • Ichthyosis histrix, Curth-Macklin type(Pd);
  • Ichthyosis, cyclic, with epidermolytic hyperkeratosis(Pd);
  • Keratosis palmoplantaris striata III(Pd);
  • Palmoplantar keratoderma(Pd);
  • Palmoplantar keratoderma, nonepidermolytic(Pd);
  • Unna-Thost disease(Pd)
  • Predicted Transmembrane Domains:
  • Isoform 1 : 0
  • Additional Identifiers:

    HPRD: 00763 Entrez Gene ID: 3848 OMIM ID: 139350 Swissprot Accession: P04264