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Von Willebrand Factor Type A Domain
The von Willebrand factor type A (vWA) domain is a protein domain named after its occurrence in von Willebrand factor (vWF), a large multimeric glycoprotein found in blood plasma. Mutant forms of vWF are involved in the aetiology of bleeding disorders. This type A domain is the prototype for a protein superfamily (; see also Pfam clan). The vWA domain is found in various plasma proteins: complement factors B, C2, CR3 and CR4; the integrins (I-domains); collagen types VI, VII, XII and XIV; and other extracellular proteins. Although the majority of vWA-containing proteins are extracellular, the most ancient ones present in all eukaryotes are all intracellular proteins involved in functions such as transcription, DNA repair, ribosomal and membrane transport and the proteasome. A common feature appears to be involvement in multiprotein complexes. Proteins that incorporate vWA domains participate in numerous biological events (e.g. cell adhesion, migration, homing, pattern formation, an ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Von Willebrand Factor
Von Willebrand factor (VWF) () is a blood glycoprotein involved in hemostasis, specifically, platelet adhesion. It is deficient and/or defective in von Willebrand disease and is involved in many other diseases, including thrombotic thrombocytopenic purpura, Heyde's syndrome, and possibly hemolytic–uremic syndrome. Increased plasma levels in many cardiovascular, neoplastic, metabolic (e.g. diabetes), and connective tissue diseases are presumed to arise from adverse changes to the endothelium, and may predict an increased risk of thrombosis. Biochemistry Synthesis VWF is a large multimeric glycoprotein present in blood plasma and produced constitutively as ultra-large VWF in endothelium (in the Weibel–Palade bodies), megakaryocytes (α-granules of platelets), and subendothelial connective tissue. Structure The basic VWF monomer is a 2050-amino acid protein. Every monomer contains a number of specific domains with a specific function; elements of note are: * the D'/D3 do ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CLCA1
Chloride channel accessory 1 is a protein that in humans is encoded by the ''CLCA1'' gene. This gene encodes a member of the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same region on chromosome 1p31-p22 and share a high degree of homology in size, sequence, and predicted structure, but differ significantly in their tissue distributions. The encoded protein is expressed as a precursor protein that is processed into two cell-surface-associated subunits, although the site at which the precursor is cleaved has not been precisely determined. The encoded protein may be involved in mediating calcium-activated chloride conductance in the intestine. Protein structure prediction methods suggest the N-terminal region of CLCA1 protein is a zinc metalloprotease. See also * Chloride channel Chloride channels are a superfamily of poorly understood ion channels specific for chloride. These channels may conduct many different ions, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
COL7A1
Collagen alpha-1(VII) chain is a protein that in humans is encoded by the ''COL7A1'' gene. It is composed of a triple helical, collagenous domain flanked by two non-collagenous domains, and functions as an anchoring fibril between the dermal-epidermal junction in the basement membrane. Mutations in COL7A1 cause all types of Dystrophic Epidermolysis Bullosa, dystrophic epidermolysis bullosa, and the exact mutations vary based on the specific type or subtype. It has been shown that interactions between the NC-1 domain of collagen VII and several other proteins, including Laminin, laminin-5 and Type IV collagen, collagen IV, contribute greatly to the overall stability of the basement membrane. Structure Type VII collagen is composed of three main domains in the following order: a non-collagenous domain, abbreviated NC-1; a collagenous domain; and a second non-collagenous domain, NC-2. The NC-1 domain has a cartilage matrix protein (CMP), nine Fibronectin type III domain, fibronectin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
COL6A3
Collagen alpha-3(VI) chain is a protein that in humans is encoded by the ''COL6A3'' gene. This protein is an alpha chain of type VI collagen that aids in microfibril formation. As part of type VI collagen, this protein has been implicated in Bethlem myopathy, Ullrich congenital muscular dystrophy (UCMD), and other diseases related to muscle and connective tissue. Structure This gene encodes the alpha 3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha 3 chain of type VI collagen is much larger than the alpha 1 and 2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, found in the amino terminal globular domain of all the alpha chains. In addition to the full length transcript, four transcript variants have been identified that encode proteins with N-terminal globular domains of varying sizes. Function The alp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
COL6A2
Collagen alpha-2(VI) chain is a protein that in humans is encoded by the ''COL6A2'' gene. Function This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand factor type A domains. These domains have been shown to bind extracellular matrix In biology, the extracellular matrix (ECM), also called intercellular matrix, is a three-dimensional network consisting of extracellular macromolecules and minerals, such as collagen, enzymes, glycoproteins and hydroxyapatite that provide stru ... proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. References Further reading * * * * * * * * * * * * * * * * * * * * Exter ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
COL6A1
Collagen alpha-1(VI) chain is a protein that in humans is encoded by the ''COL6A1'' gene. Function The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer In biochemistry, a protein trimer is a macromolecular complex formed by three, usually non-covalently bound, macromolecules like proteins or nucleic acids. A homotrimer would be formed by three identical molecules. A heterotrimer would be formed ... of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the '' COL6A2'' and '' COL6A3'' genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
COL28
In geomorphology, a col is the lowest point on a mountain ridge between two peaks.Whittow, John (1984). ''Dictionary of Physical Geography''. London: Penguin, 1984, p. 103. . It may also be called a gap. Particularly rugged and forbidding cols in the terrain are usually referred to as notches. They are generally unsuitable as mountain passes, but are occasionally crossed by mule tracks or climbers' routes. The term col tends to be associated more with mountain rather than hill ranges. It is derived from the French ''col'' ("collar, neck") from Latin ''collum'', "neck". The height of a summit above its highest col (called the key col) is effectively a measure of a mountain's topographic prominence. Cols lie on the line of the watershed between two mountains, often on a prominent ridge or arête. For example, the highest col in Austria, the ''Obere Glocknerscharte'' ("Upper Glockner Col", ), lies between the Kleinglockner () and Grossglockner () mountains, giving the Klein ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
COL22A1
COL22A1 is a human gene encoding for collagen. The associated protein is thought to contribute to the stabilization of myotendinous junctions and strengthen skeletal muscle attachments during muscle contraction Muscle contraction is the activation of tension-generating sites within muscle cells. In physiology, muscle contraction does not necessarily mean muscle shortening because muscle tension can be produced without changes in muscle length, such as .... References {{Fibrous proteins Collagens ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
COL21A1
Collagen alpha-1(XXI) chain is a protein that in humans is encoded by the ''COL21A1'' gene. The protein is an extracellular matrix In biology, the extracellular matrix (ECM), also called intercellular matrix, is a three-dimensional network consisting of extracellular macromolecules and minerals, such as collagen, enzymes, glycoproteins and hydroxyapatite that provide stru ... component of blood vessel walls, secreted by smooth-muscle cells. The protein may contribute to the extracellular matrix assembly of the vascular network during blood vessel formation. References {{Fibrous proteins Collagens ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
COL20A1
COL20A1 is a collagen Collagen () is the main structural protein in the extracellular matrix found in the body's various connective tissues. As the main component of connective tissue, it is the most abundant protein in mammals, making up from 25% to 35% of the whole ... gene. {{Fibrous proteins Collagens ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
COL14A1
Collagen alpha-1(XIV) chain is a protein that in humans is encoded by the ''COL14A1'' gene. It likely plays a role in collagen binding and cell-cell adhesion Cell adhesion is the process by which cells interact and attach to neighbouring cells through specialised molecules of the cell surface. This process can occur either through direct contact between cell surfaces such as cell junctions or indire .... References Further reading * * * * * * * * * * * * * * * * * * Collagens {{gene-8-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
COL12A1
Collagen alpha-1(XII) chain is a protein that in humans is encoded by the ''COL12A1'' gene. This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. Clinical significance * Ehlers-Danlos syndrome Myopathic type is associated with mutations in the ''COL12A1'' gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ... References Further reading * * * * * * * * * * * * * * * * * Collagens {{gene- ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
