The term 'keratin' covers all intermediate filament-forming proteins with specific physicochemical properties and produced in any vertebrate epithelia. Similarly, the nomenclature of epithelia as cornified, keratinized or non-keratinized is based historically on the notion that only the epidermis of skin modifications such as horns, claws and hooves is cornified.
This gene encodes a nuclear protein that is associated with and may be necessary for cellular proliferation. Alternatively spliced transcript variants have been described. A related pseudogene exists on chromosome X.
KIF5B is a member of kinesin superfamily protein 5 (KIF5). KIF5 consists of three family members referred to as KIF5A, KIF5B, and KIF5C. KIF5A and KIF5C are specifically expressed in neurons whereas KIF5B is expressed ubiquitously. Targeted disruption of the kif5B gene resulted in embryonic lethality. These and other studies demonstrate that KIF5B plays an important role in the localization and distribution of major organelles, including the mitochondria and lysosome, and can contribute to autophagy. In addition, gene rearrangements involving KIF5B fusions to ALK and RET have been identified as drivers for lung cancer and other malignancies.
Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR3DL1 is a receptor on natural killer (NK) cells for HLA Bw4 allele. It inhibits the activity of NK cells thus preventing cell lysis. KIR3DL1 and KIR3DS1 are highly homologous. This antibody is raised against human KIR3DL1and has a molecular weight of 49 kDa.
The c-Kit proto-oncogene is the cellular homolog of the transforming gene of a feline retrovirus (v-Kit). The c-kit protein includes characteristics of a protein kinase transmembrane receptor. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
This gene encodes a protein that belongs to the Kruppel family of transcription factors. The encoded zinc finger protein is required for normal development of the barrier function of skin. The encoded protein is thought to control the G1-to-S transition of the cell cycle following DNA damage by mediating the tumor suppressor gene p53. Mice lacking this gene have a normal appearance but lose weight rapidly, and die shortly after birth due to fluid evaporation resulting from compromised epidermal barrier function. Alternative splicing results in multiple transcript variants encoding different isoforms.
This gene encodes a member of the kelch-like (KLHL) family of proteins, which is involved in B-lymphocyte antigen receptor signaling and germinal-center B-cell maturation. The encoded protein contains an N-terminal broad-complex, tramtrack and bric a brac (BTB) domain that facilitates protein binding and dimerization, a BTB and C-terminal kelch (BACK) domain, and six C-terminal kelch repeat domains. Naturally occurring mutations in this gene are associated with chronic lymphocytic leukemia. Alternative splicing results in multiple transcript variants.
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