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. [provided by RefSeq, Jul 2008]
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.
Biological Process
Complement activation, lectin pathwayManual Assertion Based On ExperimentIPI:UniProtKB
Establishment of skin barrierIEA:Ensembl
Fibrinolysis1 PublicationNAS:UniProtKB
Negative regulation of inflammatory responseIEA:Ensembl
Peptide cross-linkingManual Assertion Based On ExperimentIDA:CAFA
Protein heterotetramerizationManual Assertion Based On ExperimentIDA:UniProtKB
Regulation of angiogenesis1 PublicationNAS:UniProtKB
Response to oxidative stress1 PublicationNAS:UniProtKB
Retina homeostasisManual Assertion Based On ExperimentHEP:UniProtKB
Cellular Location
Cell membrane
Located on plasma membrane of neuroblastoma NMB7 cells.
Involvement in disease
Epidermolytic hyperkeratosis (EHK):
An autosomal dominant skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop.
Ichthyosis hystrix, Curth-Macklin type (IHCM):
A genodermatosis with severe verrucous hyperkeratosis. Affected individuals manifest congenital verrucous black scale on the scalp, neck, and limbs with truncal erythema, palmoplantar keratoderma and keratoses on the lips, ears, nipples and buttocks.
Keratoderma, palmoplantar, non-epidermolytic (NEPPK):
A dermatological disorder characterized by well-demarcated hyperkeratosis is present over the palms and soles. A red band is frequently present at the periphery of the keratosis. It is usually non-transgredient, with a sharp demarcation of the lesions at the wrists.
Ichthyosis annular epidermolytic (AEI):
A skin disorder resembling bullous congenital ichthyosiform erythroderma. Affected individuals present with bullous ichthyosis in early childhood and hyperkeratotic lichenified plaques in the flexural areas and extensor surfaces at later ages. The feature that distinguishes AEI from BCIE is dramatic episodes of flares of annular polycyclic plaques with scale, which coalesce to involve most of the body surface and can persist for several weeks or even months.
Keratoderma, palmoplantar, striate 3 (SPPK3):
A dermatological disorder characterized by thickening of the stratum corneum and epidermal layers on palms and soles. There is no involvement of non-palmoplantar skin, and both hair and nails are normal.
PTM
Undergoes deimination of some arginine residues (citrullination).
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Datasheet