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The keratins are the typical intermediate filament proteins of epithelia, showing an outstanding degree of molecular diversity. Heteropolymeric filaments are formed by pairing of type I and type II molecules. In humans 54 functional keratin genes exist. They are expressed in highly specific patterns related to the epithelial type and stage of cellular differentiation. About half of all keratins--including numerous keratins characterized only recently--are restricted to the various compartments of hair follicles. As part of the epithelial cytoskeleton, keratins are important for the mechanical stability and integrity of epithelial cells and tissues. Moreover, some keratins also have regulatory functions and are involved in intracellular signaling pathways, e.g. protection from stress, wound healing, and apoptosis. Applying the new consensus nomenclature, this article summarizes, for all human keratins, their cell type and tissue distribution and their functional significance in relation to transgenic mouse models and human hereditary keratin diseases. Furthermore, since keratins also exhibit characteristic expression patterns in human tumors, several of them (notably K5, K7, K8/K18, K19, and K20) have great importance in immunohistochemical tumor diagnosis of carcinomas, in particular of unclear metastases and in precise classification and subtyping. Future research might open further fields of clinical application for this remarkable protein family.
Pubmed ID: 18461349 RIS Download
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The Human Intermediate Filament Database is a continuously updated review of the intermediate filament field. It is hoped that users will contribute to the development and expansion of the database on a regular basis. Contributions may include novel variants, new patients with previously discovered sequence and allelic variants. Suggestions on ways to improve the database are also welcome. The entire database can be searched through the Browse and Search options. A number of different parameters can be used to search the database including unique identifier, intermediate filament, disease DNA variations, amino acid variations, domain, date accepted, author and abstract. Output from the search is returned in a table containing all the pertinent cross referenced information. Multiple sequence alignment can also be performed via the CLUSTALW program to determine cDNA or protein sequence conservation. The database is linked to multiple other resources including NCBI RefSeq, PDB, OMIM, UCSC genome browser, NCBI Gene, HomoloGene, PubMed and HGNC. In the case of HGNC, reciprocal links are also available from HGNC that links to Human Intermediate Filament Database. Due to the protein centric nature of the Human Intermediate Filament Database and the gene centric nature of HGNC, a HGNC record will potentially link to multiple records in this database due to the presence of alternative splicing. In such an event, the Human Intermediate Filament Database will present to the user a list of all the protein records resulting from the HGNC gene record. The database uses Jalview and Jmol applets for the visualization of multiple sequence alignment and structure respectively. The database contains information on disease phenotypes of a variety of different intermediate filament related diseases.
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