ATP2C1
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ATP2C1
Calcium-transporting ATPase type 2C member 1 is an enzyme that in humans is encoded by the ''ATP2C1'' gene. This gene encodes one of the SPCA proteins, a Ca2+ ion-transporting P-type ATPase The P-type ATPases, also known as E1-E2 ATPases, are a large group of evolutionarily related ion and lipid pumps that are found in bacteria, archaea, and eukaryotes. P-type ATPases are α-helical bundle primary transporters named based upon thei .... This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. References External links * Further reading

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Secretory Pathway Ca²⁺ ATPase
SPCA, or Secretory Pathway Ca2+- ATPase, is a calcium ATPase-type P-ATPase encoded for by the genes ATP2C1 and ATP2C2. Function SPCA is found primarily in the membranes of the golgi apparatus in increasing concentrations from the cis- to the trans-golgi compartments. Following a calcium spike, SPCA proteins are responsible for transporting Ca2+ ions from the cytosol to the lumen of the golgi, thus lowering the cytoplasmic concentrations of Ca2+ to resting levels. SPCA is also able to transport Mn2+ ions into the golgi with high affinity, an ability that the related Ca2+-ATPase, SERCA, does not possess. Since Mn2+ ions are not used for signalling like Ca2+ ions are, the main reason for transporting them out of the cytosol is to prevent manganese toxicity. The removal of these ions from the cytosol can also be looked upon as supplying the golgi apparatus and thus the entire secretory pathway with these ions. Several proteins within the pathway require either Ca2+ ions, Mn2+ ions, ...
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P-type ATPase
The P-type ATPases, also known as E1-E2 ATPases, are a large group of evolutionarily related ion and lipid pumps that are found in bacteria, archaea, and eukaryotes. P-type ATPases are α-helical bundle primary transporters named based upon their ability to catalyze auto- (or self-) phosphorylation (hence P) of a key conserved aspartate residue within the pump and their energy source, adenosine triphosphate (ATP). In addition, they all appear to interconvert between at least two different conformations, denoted by E1 and E2. P-type ATPases fall under the P-type ATPase (P-ATPase) SuperfamilyTC# 3.A.3 which, as of early 2016, includes 20 different protein families. Most members of this transporter superfamily catalyze cation uptake and/or efflux, however one subfamily, the flippases,TC# 3.A.3.8 is involved in flipping phospholipids to maintain the asymmetric nature of the biomembrane. In humans, P-type ATPases serve as a basis for nerve impulses, relaxation of muscles, secretion ...
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Enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products. Almost all metabolic processes in the cell need enzyme catalysis in order to occur at rates fast enough to sustain life. Metabolic pathways depend upon enzymes to catalyze individual steps. The study of enzymes is called ''enzymology'' and the field of pseudoenzyme analysis recognizes that during evolution, some enzymes have lost the ability to carry out biological catalysis, which is often reflected in their amino acid sequences and unusual 'pseudocatalytic' properties. Enzymes are known to catalyze more than 5,000 biochemical reaction types. Other biocatalysts are catalytic RNA molecules, called ribozymes. Enzymes' specificity comes from their unique three-dimensional structures. Like all catalysts, enzymes increase the react ...
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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 basic unit of heredity and the molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as ...
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