KRT1 keratin 1 [Homo sapiens (human)]
| Gene Symbol | KRT1 |
| Entrez Gene ID | 3848 |
| Full Name | keratin 1 |
| Synonyms | CK1, EHK, EHK1, EPPK, K1, KRT1A, NEPPK |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
12 12q13.13 |
| Summary | 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]. |
| Disorder | MIM: 139350 Epidermolytic hyperkeratosis, 113800 (3); Ichthyosis, cyclic, with |
| mRNA | NM_006121, 119395749 |
| Protein | NP_006112, 119395750 |
| Product | keratin, type II cytoskeletal 1 |
| RefSeq Status | REVIEWED |
| wnt_beta_catenin_pathway | Regulation of Wnt-mediated beta catenin signaling and target gene transcription |
| Homo sapiens (human) | KRT1 | NP_006112.3 |
| Pan troglodytes (chimpanzee) | KRT1 | XP_001139224.1 |
| Canis lupus familiaris (dog) | KRT1 | NP_001003392.1 |
| Mus musculus (house mouse) | Krt1 | NP_032499.2 |
| Rattus norvegicus (Norway rat) | Krt1 | NP_001008802.1 |
| ID | Name | Evidence |
| GO:0001867 | complement activation, lectin pathway | IPI |
| GO:0006979 | response to oxidative stress | NAS |
| GO:0008544 | epidermis development | TAS |
| GO:0042730 | fibrinolysis | NAS |
| GO:0045765 | regulation of angiogenesis | NAS |
Component
| ID | Name | Evidence |
| GO:0005856 | cytoskeleton | TAS |
| GO:0005882 | intermediate filament | TAS |
| GO:0005886 | plasma membrane | IEA |
| GO:0016020 | membrane | IDA |
| GO:0045095 | keratin filament | IEA |
Function
| ID | Name | Evidence |
| GO:0004872 | receptor activity | NAS |
| GO:0005200 | structural constituent of cytoskeleton | TAS |
| GO:0005515 | protein binding | IPI |
| GO:0005529 | sugar binding | IPI |
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