Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system.
This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly beta-pleated sheet structure that can form amyloid fibrils in some pathological conditions. The encoded antimicrobial protein displays antibacterial activity in amniotic fluid. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.
May participate in the regulation of T-cell-mediated immune response. May play a protective role in tumor cells by inhibiting natural-killer mediated cell lysis as well as a role of marker for detection of neuroblastoma cells. May be involved in the development of acute and chronic transplant rejection and in the regulation of lymphocytic activity at mucosal surfaces. Could also play a key role in providing the placenta and fetus with a suitable immunological environment throughout pregnancy. Both isoform 1 and isoform 2 appear to be redundant in their ability to modulate CD4 T-cell responses. Isoform 2 is shown to enhance the induction of cytotoxic T-cells and selectively stimulates interferon gamma production in the presence of T-cell receptor signaling.
B7 homolog 4 (B7-H4), also known as VTCN1, is a member of the B7 family of cell surface ligands that regulate T cell activation and immune responses. B7-H4 protein contains two extracellular Ig-like V-type domains, a transmembrane domain, and a short, two amino acid intracellular domain. The B7-H4 protein is shown to inhibit T cell activation, proliferation, and cytokine production. Although B7-H4 mRNA is widely expressed, B7-H4 protein is restricted to antigen presenting cells and B cells. The B7-H4 protein is also found in several tumor types, including ovarian cancer and breast cancer. Research studies indicate that B7-H4 protein is present on the surface of ovarian tumor cells, and that targeted inhibition of B7-H4 using recombinant antibodies restores T cell activation pathways. These studies suggest some potential therapeutic value in blocking B7-H4 function and restoring T cell function in cancer patients.
BACE-1 (beta‑site APP cleaving enzyme-1) is an aspartic protease and an integral membrane protein . It is the major beta secretase, and together with the gamma secretase, is responsible for generating the amyloid beta peptide (A beta ) from the amyloid precursor protein (APP)
BACE1(beta-secretase 1) Homo sapiens This gene encodes a member of the peptidase A1 family of aspartic proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protease. This transmembrane protease catalyzes the first step in the formation of amyloid beta peptide from amyloid precursor protein. Amyloid beta peptides are the main constituent of amyloid beta plaques, which accumulate in the brains of human Alzheimer's disease patients.
The protein encoded by this gene is a member of the BCL-2 family. BCL-2 family members are known to be regulators of programmed cell death. This protein positively regulates cell apoptosis by forming heterodimers with BCL-xL and BCL-2, and reversing their death repressor activity. Proapoptotic activity of this protein is regulated through its phosphorylation. Protein kinases AKT and MAP kinase, as well as protein phosphatase calcineurin were found to be involved in the regulation of this protein. Alternative splicing of this gene results in two transcript variants which encode the same isoform.
BAF53/ACTL6 proteins are highly homologous, actin-related proteins found in the SWI/SNF complex. In addition to the canonical SWI/SNF complex, BAF53A/ACTL6A is also member of the embryonic SWI/SNF complex, known as esBAF, which plays a role in pluripotency and development. BAF53B/ACTL6B is a member of the neural-specific SWI/SNF complex that facilitates binding to target genes and is involved in memory and synaptic plasticity. BAF53/ACTL6 has been shown to interact with c-Myc, where it functions as a cofactor and is important in the transformation process. Further studies have shown ACTL6/BAF53 is associated with EMT and transformation in various cancers.
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