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Details of KRT1 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| KRT1 | KRTA | P04264 | K2C1_HUMAN | 3848 | ENSG00000167768 | Keratin, type II cytoskeletal 1 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| 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. Note=The disease is caused by mutations affecting the gene represented in this entry. | 113800 | Ichthyosis hystrix, Curth-Macklin type (IHCM) [MIM:146590]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. | 146590 | Keratoderma, palmoplantar, non-epidermolytic (NEPPK) [MIM:600962]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. | 600962 | Ichthyosis annular epidermolytic (AEI) [MIM:607602]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. | 607602 | Keratoderma, palmoplantar, striate 3 (SPPK3) [MIM:607654]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. | 607654 |
Phenotypes
Abnormal appendicular skeleton morphology, Abnormal immunoglobulin level, Abnormality of B cell physiology, Abnormality of B cells, Abnormality of blood and blood-forming tissues, Abnormality of cellular immune system, Abnormality of humoral immunity, Abnormality of immune system physiology, Abnormality of leukocytes, Abnormality of limb bone morphology, Abnormality of lymphocytes, Abnormality of metabolism/homeostasis, Abnormality of skeletal morphology, Abnormality of skin adnexa, Abnormality of skin morphology, Abnormality of skin physiology, Abnormality of the hair, Abnormality of the hand, Abnormality of the immune system, Abnormality of the integument, Abnormality of the nail, Abnormality of the palm, Abnormality of the plantar skin of foot, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the upper limb, All, Autosomal dominant inheritance, Congenital bullous ichthyosiform erythroderma, Congenital ichthyosiform erythroderma, Epidermal thickening, Erythema, Erythroderma, Generalized abnormality of skin, Hypergammaglobulinemia, Hyperkeratosis, Ichthyosiform abnormality of the skin, Increased IgE level, Inflammatory abnormality of the skin, Localized epidermolytic hyperkeratosis, Mode of inheritance, Nonepidermolytic palmoplantar keratoderma, Palmar hyperkeratosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Phenotypic abnormality, Plantar hyperkeratosis, Regional abnormality of skin, Thickened skin, Vascular skin abnormality.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Krt1 | --- | --- | --- | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| KRT1 | KRT10 | 0.162209141 | KRT1 | KRT10 | cpx208 | no | yes | no | Known |
| KRT1 | KRT2 | 0.160197069 | KRT1 | KRT2 | cpx208 | no | yes | no | Known |
| KRT1 | KRT77 | 0.159601128 | KRT1 | KRT77 | cpx208 | no | no | no | Novel |
| KRT1 | KRT5 | 0.186043761 | KRT1 | KRT5 | cpx208 | no | no | no | Novel |