ID:K1C10_HUMAN DESCRIPTION: RecName: Full=Keratin, type I cytoskeletal 10; AltName: Full=Cytokeratin-10; Short=CK-10; AltName: Full=Keratin-10; Short=K10; SUBUNIT: Heterotetramer of two type I and two type II keratins. keratin-10 is generally associated with keratin-1. TISSUE SPECIFICITY: Seen in all suprabasal cell layers including stratum corneum. POLYMORPHISM: A number of alleles are known that mainly differ in the Gly-rich region (positions 490-560). DISEASE: Defects in KRT10 are a cause of epidermolytic hyperkeratosis (EHK) [MIM:113800]. 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. DISEASE: Defects in KRT10 are a cause of ichthyosis annular epidermolytic (AEI) [MIM:607602]; also known as cyclic ichthyosis with epidermolytic hyperkeratosis. AEI is 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. DISEASE: Defects in KRT10 are the cause of reticular congenital ichthyosiform erythroderma (CRIE) [MIM:609165]; also called ichthyosis with confetti (IWC) or reticular erythrokeratoderma. CRIE is a rare skin condition characterized by slowly enlarging islands of normal skin surrounded by erythematous ichthyotic patches in a reticulated pattern. The condition starts in infancy as a lamellar ichthyosis, with small islands of normal skin resembling confetti appearing in late childhood and at puberty. Histopathologic findings include band-like parakeratosis, psoriasiform acanthosis, and vacuolization of keratinocytes with binucleated cells in the upper epidermis, sometimes associated with amyloid deposition in the dermis. Ultrastructural abnormalities include perinuclear shells formed from a network of fine filaments in the upper epidermis. MISCELLANEOUS: There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa). SIMILARITY: Belongs to the intermediate filament family. SEQUENCE CAUTION: Sequence=AAA59468.1; Type=Erroneous initiation; Note=Translation N-terminally extended; WEB RESOURCE: Name=Human Intermediate Filament Mutation Database; URL="http://www.interfil.org"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KRT10"; WEB RESOURCE: Name=Wikipedia; Note=Keratin-10 entry; URL="http://en.wikipedia.org/wiki/Keratin_10";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P13645
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.