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ACVR1
Activin A receptor, type I (ACVR1) is a protein which in humans is encoded by the ''ACVR1'' gene; also known as ALK-2 (activin receptor-like kinase-2). ACVR1 has been linked to the 2q23-24 region of the genome. This protein is important in the bone morphogenic protein (BMP) pathway which is responsible for the development and repair of the skeletal system. While knock-out models with this gene are in progress, the ACVR1 gene has been connected to fibrodysplasia ossificans progressiva, a disease characterized by the formation of heterotopic bone throughout the body. It is a bone morphogenetic protein receptor, type 1. Function Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are al ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fibrodysplasia Ossificans Progressiva
Fibrodysplasia ossificans progressiva (; FOP; also called Münchmeyer disease and formerly called myositis ossificans progressiva or Stoneman disease) is an extremely rare connective tissue disease in which fibrous connective tissue such as muscle, tendons, and ligaments turn into bone tissue. It is the only known medical condition where one organ system changes into another. It is a severe, disabling disorder with no current cure or treatment. FOP is caused by a mutation of the gene ACVR1. The mutation affects the body's repair mechanism, causing fibrous tissue including muscle, tendons, and ligaments to become ossified, either spontaneously or when damaged as the result of trauma. In many cases, otherwise minor injuries can cause joints to become permanently fused as new bone forms, replacing the damaged muscle tissue. This new bone formation (known as "heterotopic ossification") eventually forms a secondary skeleton and progressively restricts the patient's ability to move. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Activin
Activin and inhibin are two closely related protein complexes that have almost directly opposite biological effects. Identified in 1986, activin enhances FSH biosynthesis and secretion, and participates in the regulation of the menstrual cycle. Many other functions have been found to be exerted by activin, including roles in cell proliferation, differentiation, apoptosis, metabolism, homeostasis, immune response, wound repair, and endocrine function. Conversely, inhibin downregulates FSH synthesis and inhibits FSH secretion. The existence of inhibin was hypothesized as early as 1916; however, it was not demonstrated to exist until Neena Schwartz and Cornelia Channing's work in the mid-1970s, after which both proteins were molecularly characterized ten years later. Activin is a dimer composed of two identical or very similar beta subunits. Inhibin is also a dimer wherein the first component is a beta subunit similar or identical to the beta subunit in activin. However, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ACVR2A
Activin receptor type-2A is a protein that in humans is encoded by the ''ACVR2A'' gene. ACVR2A is an activin type 2 receptor. Function This gene encodes activin A type II receptor. Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bone Morphogenetic Protein Receptor, Type 1
Bone morphogenetic protein type I receptors are single pass, type I transmembrane proteins. They belong to a class of receptor serine/threonine kinases that bind members of the TGF beta superfamily of ligands-the Bone morphogenetic proteins. The three types of type I BMP receptors are ACVR1, BMPR1A and BMPR1B Bone morphogenetic protein receptor type-1B also known as CDw293 (cluster of differentiation w293) is a protein that in humans is encoded by the ''BMPR1B'' gene In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gen .... External links * Receptors Transmembrane receptors S/T domain GS domain Bone morphogenetic protein EC 2.7.11 {{Transmembranereceptor-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SMAD2
Mothers against decapentaplegic homolog 2 also known as SMAD family member 2 or SMAD2 is a protein that in humans is encoded by the ''SMAD2'' gene. MAD homolog 2 belongs to the SMAD, a family of proteins similar to the gene products of the ''Drosophila'' gene 'mothers against decapentaplegic' (Mad) and the ''C. elegans'' gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. Function SMAD2 mediates the signal of the transforming growth factor (TGF)-beta, and thus regulates multiple cellular processes, such as cell proliferation, apoptosis, and differentiation. This protein is recruited to the TGF-beta receptors through its interaction with the SMAD anchor for receptor activation (SARA) protein. In response to TGF-beta signal, this protein is phosphorylated by the TGF-beta receptors. The phosphorylation induces the dissociation of this protein with SARA and the association with the family member SMAD4. The ass ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ACVR2B
Activin receptor type-2B is a protein that in humans is encoded by the ''ACVR2B'' gene. ACVR2B is an activin type 2 receptor. Function Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SMAD3
Mothers against decapentaplegic homolog 3 also known as SMAD family member 3 or SMAD3 is a protein that in humans is encoded by the SMAD3 gene. SMAD3 is a member of the SMAD family of proteins. It acts as a mediator of the signals initiated by the transforming growth factor beta (TGF-β) superfamily of cytokines, which regulate cell proliferation, differentiation and death. Based on its essential role in TGF beta signaling pathway, SMAD3 has been related with tumor growth in cancer development. Gene The human SMAD3 gene is located on chromosome 15 on the cytogenic band at 15q22.33. The gene is composed of 9 exons over 129,339 base pairs. It is one of several human homologues of a gene that was originally discovered in the fruit fly ''Drosophila melanogaster''. The expression of SMAD3 has been related to the mitogen-activated protein kinase (MAPK/ERK pathway), particularly to the activity of mitogen-activated protein kinase kinase-1 (MEK1). Studies have demonstrated that inhi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
BMPR2
Bone morphogenetic protein receptor type II or BMPR2 is a serine/threonine receptor kinase. It binds Bone morphogenetic proteins, members of the TGF beta superfamily of ligands, which are involved in paracrine signalling. BMPs are involved in a host of cellular functions including osteogenesis, cell growth and cell differentiation. Signaling in the BMP pathway begins with the binding of a BMP to the type II receptor. This causes the recruitment of a BMP type I receptor, which it phosphorylates. The Type I receptor phosphorylates an R-SMAD a transcriptional regulator. Function Unlike the TGFβ type II receptor, which has a high affinity for TGF-β1, BMPR2 does not have a high affinity for BMP-2, BMP-7 and BMP-4, unless it is co-expressed with a type I BMP receptor. On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
R-SMAD
R-SMADs are receptor-regulated SMADs. SMADs are transcription factors that transduce extracellular TGF-β superfamily ligand signaling from cell membrane bound TGF-β receptors into the nucleus where they activate transcription TGF-β target genes. R-SMADS are directly phosphorylated on their c-terminus by type 1 TGF-β receptors through their intracellular kinase domain, leading to r-SMAD activation. R-SMADS include SMAD2 and SMAD3 from the TGF-β/Activin/Nodal branch, and SMAD1, SMAD5 and SMAD8 from the BMP/GDP branch of TGF-β signaling. In response to signals by the TGF-β superfamily of ligands these proteins associate with receptor kinases and are phosphorylated at an SSXS motif at their extreme C-terminus. These proteins then typically bind to the common mediator Smad or co-SMAD SMAD4. Smad complexes then accumulate in the cell nucleus where they regulate transcription of specific target genes: * SMAD2 and SMAD3 are activated in response to TGF-β/ Activin or Nodal sign ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SMAD1
Mothers against decapentaplegic homolog 1 also known as SMAD family member 1 or SMAD1 is a protein that in humans is encoded by the ''SMAD1'' gene. Nomenclature SMAD1 belongs to the SMAD, a family of proteins similar to the gene products of the ''Drosophila'' gene 'mothers against decapentaplegic' (Mad) and the ''C. elegans'' gene Sma. The name is a combination of the two; and based on a tradition of such unusual naming within the gene research community. It was found that a mutation in the 'Drosophila' gene, ''MAD'', in the mother, repressed the gene, ''decapentaplegic'', in the embryo. Mad mutations can be placed in an allelic series based on the relative severity of the maternal effect enhancement of weak dpp alleles, thus explaining the name Mothers against dpp. Function SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signals of the bone morphogenetic proteins (BMPs), which are involved ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called peptides. The individual amino acid residues are bonded together by peptide bonds and adjacent amino acid residues. The sequence of amino acid residue ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SMAD6
SMAD family member 6, also known as SMAD6, is a protein that in humans is encoded by the ''SMAD6'' gene. SMAD6 is a protein that, as its name describes, is a homolog of the Drosophila gene "mothers against decapentaplegic". It belongs to the SMAD family of proteins, which belong to the TGFβ superfamily of modulators. Like many other TGFβ family members SMAD6 is involved in cell signalling. It acts as a regulator of TGFβ family (such as bone morphogenetic proteins) activity by competing with SMAD4 and preventing the transcription of SMAD4's gene products. There are two known isoforms of this protein. Nomenclature The SMAD proteins are homologs of both the drosophila protein, mothers against decapentaplegic (MAD) and the ''C. elegans'' protein SMA. The name is a combination of the two. During ''Drosophila'' research, it was found that a mutation in the gene ''MAD'' in the mother repressed the gene ''decapentaplegic'' in the embryo. The phrase "Mothers against" was added as a hu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
