Krt1
Developmental stage
Expressed in the skin at birth.
Function
May regulate the activity of kinases such as PKC and SRC via binding to integrin beta-1 (ITB1) and the receptor of activated protein C kinase 1 (RACK1). In complex with C1QBP is a high affinity receptor for kininogen-1/HMWK (By similarity).
Involvement in disease
Defects in Krt1 are a cause of epidermolytic hyperkeratosis (EHK); also known as bullous congenital ichthyosiform erythroderma (BIE). EHK is a hereditary skin disorder characterized by intraepidermal blistering, a marked thickening of the stratum corneum, pigmentation of the skin and erosions at sites of trauma which are all present from birth.
Post-translational modifications
Undergoes deimination of some arginine residues (citrullination).
Sequence Similarities
Belongs to the intermediate filament family.
Tissue Specificity
Expressed in the infundibular regions of the ear, the interfollicular epidermis of the back, in the interscale regions containing hair follicles in the tail, and in the soles of the footpads (at protein level).
Cellular localization
- Cell membrane
- Cytoplasm
Alternative names
Krt2-1, Krt1, 67 kDa cytokeratin, Cytokeratin-1, Keratin-1, Type-II keratin Kb1, CK-1, K1