Skip to main content

KRT1

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.

Involvement in disease

Epidermolytic hyperkeratosis 1

EHK1

A 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. EHK1 inheritance is autosomal dominant or autosomal recessive.

None

The disease is caused by variants affecting the gene represented in this entry.

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.

None

The disease is caused by variants affecting the gene represented in this entry.

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Ichthyosis, annular epidermolytic, 2

AEI2

A form of annular epidermolytic ichthyosis, an autosomal dominant skin disorder characterized by polycyclic, migratory erythematous and scaly plaques. AEI2 patients manifest erythema and blistering of skin at birth that improves without scarring, as well as palmoplantar keratoderma.

None

The disease is caused by variants affecting the gene represented in this entry.

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Palmoplantar keratoderma, epidermolytic, 2

EPPK2

A form of epidermolytic palmoplantar keratoderma, a dermatological disorder characterized by diffuse thickening of the epidermis on the entire surface of palms and soles sharply bordered with erythematous margins. Some patients may present knuckle pads, thick pads of skin appearing over the proximal phalangeal joints. EPPK2 is an autosomal dominant form in which hyperkeratosis is restricted to palms and soles and is apparent from birth or childhood.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Undergoes deimination of some arginine residues (citrullination).

Sequence similarities

Belongs to the intermediate filament family.

Tissue specificity

The source of this protein is neonatal foreskin. The 67-kDa type II keratins are expressed in terminally differentiating epidermis.

Cellular localization

  • Cell membrane
  • Cytoplasm

Alternative names

  • KRTA
  • KRTA
  • KRT1
  • 67 kDa cytokeratin
  • Cytokeratin-1
  • Hair alpha protein
  • Keratin-1
  • Type-II keratin Kb1
  • CK-1
  • K1

Target type

Proteins

Primary research area

Immuno-oncology

Molecular weight

66039Da

We found 28 products in 3 categories

Proteins & Peptides

Target

Species of origin

Nature

Cell Lines & Lysates

Target

Cell type

Species or organism