Butyrophilin 2A2 (BTN2A2) is a widely expressed type I transmembrane glycoprotein that functions as a negative regulator of immune responses. Mature human Butyrophilin 2A2 consisits of a 233 amino acid (aa) extracellular domain with two immunoglobulin-like domains, a 21 aa transmembrane segment, and a 237 aa cytoplasmic domain. Alternative splicing generates additional isoforms of human Butyrophilin 2A2 that lack the first, second, or both Iglike domains as well as isoforms with substitutions and deletions in the cytoplasmic region. Within the immune system, Butyrophilin 2A2 is expressed on thymic epithelial cells, naive B cells, splenic NK cells, dendritic cells, and peritoneal macrophages and is up-regulated with cell activation. Butyrophilin 2A2 inhibits T cell proliferation and activation and enhances the development of FoxP3+ regulatory T cells. Its up-regulation in the hippocampus is associated with schizophrenia.
Butyrophilin Subfamily 3 Member A1 (BTN3A1/CD277) is a type I transmembrane glycoprotein member of the Ig superfamily. It is expressed on a wide variety of immune cells. Similar to BTN3A2 and BTN3A3, BTN3A1 is composed of an extracellular N-terminal IgV and a membraneproximal IgC domain followed by a transmembrane domain and a cytoplasmic tail. These Ig domains are also found in B7 family costimulatory molecules, suggesting structural and functional similarities between the two protein families. BTN3A1 acts as a critical protein for the activation of Vγ9Vδ2 T cells following detection of distressed cells. The anti-tumor responses of Vγ9Vδ2 T cells may be enhanced with agonistic anti-BTNA3 antibodies.
Butyrophilin subfamily 3 member A2, also known as BT3.2, BTF3, BTF4 and BTN3A2, is a single-pass type I membrane protein. It is a member of the butyrophilin (BTN) family and the immunoglobulin (IG) superfamily. Mature human BTN3A2 is a 305 amino acid (aa) glycoprotein. It contains a 219 aa extracellular region with one V-type Ig-like domain, and a 65 aa cytoplasmic tail. The cytoplasmic region undergoes phosphorylation on two serines. There are three potential splice forms. BTN3A2 is postulated to be expressed on immune-related cells, as it has a structural similarity to MHC and CD80/CD86 molecules. It plays a role in T-cell responses in the adaptive immune response and inhibits the release of IFNG from activated T-cells.
Butyrylcholine Esterase (BCHE) is a secreted protein that belongs to the type-B carboxylesterase/lipase family. BCHE is a major acetylcholine hydrolyzing enzyme in the circulation. It is detected in blood plasma and present in most cells except erythrocytes. BCHE is an esterase with broad substrate specificity. BCHE can contribute to the inactivation of the neurotransmitter acetylcholine. BCHE can degrade a large number of neurotoxic organophosphate esters. Thus, it plays important pharmacological and toxicological roles and is thought to be involved in the pathological progression. Defects in BCHE are the cause of butyrylcholinesterase deficiency (BChE deficiency) which is a metabolic disorder characterized by prolonged apnoea after the use of certain anesthetic drugs, including the muscle relaxants succinylcholine and other ester local anesthetics.
Butyrylcholinesterase (BCHE), also known as cholinesterase or BuChE, is an enzyme defined as "pseudo" or "non-neuronal" cholinesterase. Butyrylcholinesterase (BCHE) is widely distributed in the nervous system as well as blood plasma. It is constitutively similar to the neuronal acetylcholinesterase, and is a non-specific cholinesterase which hydrolyses many different choline esters. Butyrylcholinesterase (BCHE) is a glycoprotein of 4 identical subunits, that were arranged as a dimer of dimers with each dimer composed of two identical subunits joined by interchain disulfide bonds. Butyrylcholinesterase (BCHE) behaves principally similar to the true enzyme and thus can play a similar role in nerve conduction, although it participates probably only in relatively slow conductive processes and could be involved in other nervous system functions and in neurodegenerative diseases. It can hydrolyze toxic esters such as cocaine or scavenge organophosphorus pesticides and nerve agents. Purified human serum cholinesterase combines in its active surface an anionic and an esteratic site, similar to true cholinesterase. It has been demonstrated that butyrylcholinesterase (BCHE) may have a greater role in cholinergic transmission than previously surmised, making BChE inhibition an important therapeutic goal in Alzheimer's disease.
Ferritin, light polypeptide (FTL) is the light subunit of the ferritin protein. Ferritin is the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Storage of iron in the tissues occurs in the form of ferritin and hemosiderin. The latter originates from ferritin that has undergone intracellular digestion of its protein shell, leaving the iron core. Ferritin and hemosiderin are components of a continuum. Ferritin has been identified in all types of living organisms: animals, plants, molds, and bacteria. Whithin the protein shell of ferritin, iron is first oxidized to the ferric state for storage as ferric oxyhdroxide. Thus, ferritin removes excess iron from the cell sap where it could otherwise participate in peroxidation mechanisms.
C12orf53 is mainly expressed in adult brain and cerebellum. It also can be detected in fetal brain and virtually no expression in spleen, heart, kidney, liver and dorsal ganglion relative to brain. C12orf53 acts as a ligand for PILRA in neural tissues, where it may be involved in immune regulation. Chromosome 12 encodes over 1,100 genes within 132 million bases. A number of skeletal deformities are linked to chromosome 12 including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Noonan syndrome, which includes heart and facial developmental defects among the primary symptoms, is caused by a mutant form of PTPN11 gene product, SH-PTP2. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding C-type lectin proteins which mediate the NK cell response to MHC class I interaction.
C1D nuclear receptor corepressor belongs to the C1D family. It is a DNA binding and apoptosis-inducing protein.C1D nuclear receptor corepressorinteracts with TSNAX and DNA-PKcs. It acts as a corepressor for the thyroid hormone receptor. It is thought that C1D nuclear receptor corepressor regulates TRAX/Translin complex formation. It is expressed in kidney, heart, brain, spleen, lung, testis, liver and small intestine. It plays a role in the recruitment of the RNA exosome complex to pre-rRNA to mediate the 3'-5' end processing of the 5.8S rRNA; this function may include MPHOSPH6. It potentiates transcriptional repression by NR1D1 and THRB. C1D nuclear receptor corepressorcan activate PRKDC not only in the presence of linear DNA but also in the presence of supercoiled DNA. It also can induce apoptosis in a p53/TP53 dependent manner.
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