Mouse anti-Human sapiens (Human) KRT1 Monoclonal Antibody

Function

Structural component of intermediate filaments in suprabasal keratinocytes of stratified epithelia. Forms heteropolymers with a type I keratin, assembling into keratin intermediate filament networks that provide mechanical strength and structural stability to differentiating epidermal cells (PubMed:1381288). May regulate the activity of kinases such as PKC and SRC by interacting with integrin beta-1 (ITB1) and the receptor of activated protein C kinase 1 (RACK1) (PubMed:17956333, PubMed:21544310). In complex with C1QBP, acts as a high-affinity receptor for kininogen-1 (HMWK) (PubMed:21544310)

Subcellular Location

Cell membrane; Cytoplasm

Disease Association

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

Tissue Specificity

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

Subunit

Heterodimers composed of one type I and one type II keratins; forms parallel coiled-coil heterodimers (PubMed:24940650, PubMed:27595935). Heterodimers associate in an antiparallel manner to form heterotetramers, which further assemble into higher-order keratin intermediate filaments (PubMed:24940650, PubMed:27595935). Forms a heterodimer with KRT10 (PubMed:24940650, PubMed:27595935). Forms a heterodimer with KRT14; the interaction is more abundant in the absence of KRT5 (By similarity). Interacts with PLEC isoform 1C, when in a heterodimer with KRT10 (PubMed:24940650). Interacts with ITGB1 in the presence of RACK1 and SRC, and with RACK1 (PubMed:17956333). Interacts with C1QBP; the association represents a cell surface kininogen receptor (PubMed:21544310). Interacts with EPPK1; interaction is dependent of higher-order structure of intermediate filament (PubMed:16923132)

• Johnson L.D. et al. Structure of a gene for the human epidermal 67-kDa keratin. — Proc. Natl. Acad. Sci. U.S.A. (1985)
• Whittock N.V. et al. Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5. — Biochem. Biophys. Res. Commun. (2000)
• Hatsell S.J. et al. Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds. — J. Invest. Dermatol. (2001)
• Ota T. et al. Complete sequencing and characterization of 21,243 full-length human cDNAs. — Nat. Genet. (2004)
• Scherer S.E. et al. The finished DNA sequence of human chromosome 12. — Nature (2006)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Gevaert K. et al. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. — Nat. Biotechnol. (2003)
• Bienvenut W.V. et al. PubMed: CI-1MMBVPFO7979Q (DEC-)