CD244, known as 2B4, is a 38 kD type I transmembrane protein. It is a member of the CD2 subset of the immunoglobulin superfamily (IgSF) molecules. CD244 is expressed on NK cells, a subset of T cells (including most CD8+ T cells and γ/δ T cells), monocytes, basophils, and eosinophils. CD48 is the ligand of CD244. It has been reported that ligation of human CD244 results in enhanced NK cell cytotoxicity and cytokine production. Recent studies have shown that human CD244, like murine CD244, has both activating and inhibitory functions, which are dependent on the density of surface 2B4 expression, degree of ligation, and the level of the adaptor molecule SAP expression.
4-1BB ligand is the high affinity ligand of 4-1BB, also known as CD137L or TNFSF9. It is shown to be a type II surface glycoprotein belonging to the TNF superfamily. Expression of 4-1BBL is restricted to APCs, such as dendritic cells, macrophages, and activated B cells. Members of the TNF-TNF receptor superfamily have been shown to play critical roles in regulating cellular activation, differentiation and apoptosis. Several studies have reported that 4-1BBL/4-1BB interaction provided a co-stimulatory signal to T cells, and increased T cell proliferation and cytokines production. In addition, 4-1BBL is involved in cancers, infectious diseases and autoimmune diseases.
This gene encodes one member of a family of translation repressor proteins. The protein directly interacts with eukaryotic translation initiation factor 4E (eIF4E), which is a limiting component of the multisubunit complex that recruits 40S ribosomal subunits to the 5' end of mRNAs. Interaction of this protein with eIF4E inhibits complex assembly and represses translation. This protein is phosphorylated in response to various signals including UV irradiation and insulin signaling, resulting in its dissociation from eIF4E and activation of mRNA translation.
Eukaryotic translation initiation factor 4E-binding protein 1(4EBP1),is a member of 4EBPs family,which regulate the translation of a subset of mRNA by competing with eIF4G for binding to eIF4E,thus preventing the assembly of the eIF4F complex. The eIF4F facilitates the recruitment of other translation initiation factors to form the complex and then initiates cap-dependent translation.4EBP1 also mediates the regulation of protein translation by growth factors,hormones and other stimuli that signal through the MAP kinase and mTORC1 pathways. There are three forms of 4EBP1,alpha,beta and gamma.
This gene encodes one member of a family of translation repressor proteins. The protein directly interacts with eukaryotic translation initiation factor 4E (eIF4E), which is a limiting component of the multisubunit complex that recruits 40S ribosomal subunits to the 5' end of mRNAs. Interaction of this protein with eIF4E inhibits complex assembly and represses translation. This protein is phosphorylated in response to various signals including UV irradiation and insulin signaling, resulting in its dissociation from eIF4E and activation of mRNA translation.
This gene encodes a protein that functions in the DNA double-strand break repair pathway choice, promoting non-homologous end joining (NHEJ) pathways, and limiting homologous recombination. This protein plays multiple roles in the DNA damage response, including promoting checkpoint signaling following DNA damage, acting as a scaffold for recruitment of DNA damage response proteins to damaged chromatin, and promoting NHEJ pathways by limiting end resection following a double-strand break. These roles are also important during V(D)J recombination, class switch recombination and at unprotected telomeres. Alternative splicing results in multiple transcript variants encoding different isoforms.
This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. It is localized to the perinuclear region of the cytoplasm, and regulates apoptosis and cell growth through interactions with other regulatory molecules including members of the p53 family. Multiple transcript variants encoding different isoforms have been found for this gene.
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