Activin Receptor Type-1B (ACVR1B) is a single-pass type I membrane protein that belongs to the protein kinase superfamily. ACVR1B contains one GS domain and one protein kinase domain and is expressed in many tissues, most strongly in kidney, pancreas, brain, lung, and liver. ACVR1B acts as a transducer of activin or activin like ligands signals. Activin binds to either ACVR2A or ACVR2B and then forms a complex with ACVR1B, ACVR2A or ACVR2B activating ACVR1B through phosphorylation of its regulatory GS domain. They go on to recruit the R-SMADs, SMAD2 and SMAD3. ACVR1B also transducers signals of nodal, GDF-1, and Vg1. Mutations in ACVR1B are associated with pituitary tumors.
Interferon-alpha/beta receptor alpha chain (IFNAR1) is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases; which in turn phosphorylate several proteins; including STAT1 and STAT2. The encoded protein also functions as an antiviral factor. Tyk2 slows down IFNAR1 degradation and that this is due; at least in part; to inhibition of IFNAR1 endocytosis. Mutant versions of IFNAR1; in which Tyr466 is changed to phenylalanine; can act in a dominant negative manner to inhibit phosphorylation of STAT2. These observations are consistent with a model in which IFNAR1 mediates the interaction between JAK kinases and the STAT transcription factors.
ALPI encodes for intestinal phosphatase alkaline; a brush border metalloenzyme that hydrolyses phosphate from the lipid A moiety of lipopolysaccharides and thereby drastically reduces Toll-like receptor 4 agonist activity. ALPI mutations impaired either stability or catalytic activity of ALPI and rendered it unable to detoxify lipopolysaccharide-dependent signalling. ALPI mutations should be included in screening for monogenic causes of inflammatory bowel diseases and lay the groundwork for ALPI-based treatments in intestinal inflammatory disorders.
Alkaline Phosphatase, Tissue-Nonspecific Isozyme (ALPL) is a cell membrane protein which belongs to the alkaline phosphatase family. There are at least four distinct but related alkaline phosphatases in humans: intestinal AP (IAP), placental AP(PLAP), germ cell AP (GCAP) and their genes are clustered on chromosome 2, tissue-nonspecific isozyme (TNAP) which gene is located on chromosome 1. Alkaline phosphatases (APs) are dimeric enzymes, it catalyze the hydrolysis of phosphomonoesters with release of inorganic phosphate. The native ALPL is a glycosylated homodimer attached to the membrane through a GPI-anchor. This isozyme may play a role in skeletal mineralization. Mutations in ALPL gene have been linked directly to different forms of hypophosphatasia,characterized by poorly mineralized cartilage and bones, and this disorder can vary depending on the specific mutation since this determines age of onset and severity of symptoms.
Alkaline phosphatase (ALPL) is a hydrolase enzyme responsible for removing phosphate groups from many types of molecules, including nucleotides, proteins, and alkaloids. The process of removing the phosphate group is called dephosphorylation. As the name suggests, alkaline phosphatases are most effective in an alkaline environment. It is sometimes used synonymously as basic phosphatase. Alkaline phosphatases (APs) are ubiquitous in many species, from bacteria to human. Four genes encode AP isoenzymes in humans and rodents. Three AP genes are expressed in a tissue-specific manner (i.e., placental, embryonic, and intestinal AP isoenzymes). Expression of the fourth AP gene is nonspecific to a single tissue and is especially abundant in bone, liver, and kidney. This isoenzyme is also called tissue-nonspecific alkaline phosphatase (TNAP). The enzyme tissue non-specific alkaline phosphatase (TNAP) belongs to the ectophosphatase family. TNAP is present in large amounts in bone in which it plays a role in mineralization.
Alpha-enolase, also known as MPB-1, NNE, Enolase 1, belongs to the enolase family. Mammalian enolase is composed of 3 isozyme subunits, alpha, beta and gamma, which can form homodimers or heterodimers which are cell-type and development-specific. ENO1 interacts with PLG in the neuronal plasma membrane and promotes its activation. The C-terminal lysine is required for this binding. Isoform MBP-1 interacts with TRAPPC2B. ENO1 interacts with ENO4 and PGAM2. The alpha/alpha homodimer of ENO1 is expressed in embryo and in most adult tissues. The alpha/beta heterodimer and the beta/beta homodimer are found in striated muscle, and the alpha/gamma heterodimer and the gamma/gamma homodimer in neurons. During ontogenesis, there is a transition from the alpha/alpha homodimer to the alpha/beta heterodimer in striated muscle cells, and to the alpha/gamma heterodimer in nerve cells. Multifunctional enzyme that, as well as its role in glycolysis, plays a part in various processes such as growth control, hypoxia tolerance and allergic responses and may also function in the intravascular and pericellular fibrinolytic system due to its ability to serve as a receptor and activator of plasminogen on the cell surface of several cell-types such as leukocytes and neurons. ENO1 also stimulates immunoglobulin production.
Alpha-fetoprotein (AFP) is classified as a member of the albuminoid gene superfamily consisting of albumin, AFP, vitaminD (Gc) protein, and alpha-albumin. AFP is a glycoprotein of 591 amino acids and a carbohydrate moiety. AFP is a major plasma protein produced by the yolk sac and the liver during fetal development. It is thought to be the fetal form of serum albumin. AFP binds to copper, nickel, fatty acids and bilirubin and is found in monomeric, dimeric and trimeric forms. AFP is one of the several embryo-specific proteins and is adominant serum protein as early in human embryonic life as one month, when albumin and transferrin are present in relatively small amounts. It is first synthesized in the human by the yolk sac and liver (1-2 months) and subsequently predominantly in the liver. A small amount of AFP is produced by the GI tract of the human conceptus. It has been proved that AFP may reappear in the serum in elevated amounts in adult life in association with normal restorative processes and with malignnt growth. Alpha-fetoprotein (AFP) is a specific marker for hepatocellular carcinoma (HCC), teratoblastomas, and neural tube defect (NTD).
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