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UNC13A
Unc-13 homolog A (''C. elegans'') is a protein that in humans is encoded by the UNC13A gene. Function This gene encodes a member of the UNC13 family. UNC13A plays a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. It is involved in neurotransmitter release by acting in synaptic vesicle priming prior to vesicle fusion and participates in the activity-dependent refilling of readily releasable vesicle pool. In ''Drosophila melanogaster'', the protein has been shown to define the vesicle release site by regulating the coupling distance between synaptic vesicles and calcium channels in cooperation with another isoform, UNC13B. It is particularly important in most glutamatergic-mediated synapses as well as GABA-mediated synapses. It plays a role in dendrite formation by melanocytes and in secretory granule priming in insulin secretion. Protein structure Several conserved domains have been found in UNC13A. These conserved do ...
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C2 Domain
A C2 domain is a protein structural domain involved in targeting proteins to cell membranes. The typical version (PKC-C2) has a beta-sandwich composed of 8 beta sheet, β-strands that co-ordinates two or three calcium ions, which bind in a cavity formed by the first and final loops of the domain, on the membrane binding face. Many other C2 domain families don't have calcium binding activity. Coupling with other domains C2 domains are frequently found coupled to enzyme, enzymatic domains; for example, the C2 domain in PTEN (gene), PTEN, brings the phosphatase domain into contact with the plasma membrane, where it can dephosphorylate its substrate, Phosphatidylinositol (3,4,5)-trisphosphate, phosphatidylinositol (3,4,5)-trisphosphate (PIP3), without removing it from the membrane - which would be energetically very costly. PTEN consists of two domains, a protein tyrosine phosphatase domain and a C2 domain. This domain pair constitutes a superdomain, a heritable unit that is found in ...
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RAB3A
Ras-related protein Rab-3A is a protein that in humans is encoded by the ''RAB3A'' gene. It is involved in calcium-triggered exocytosis in neurons. Interactions RAB3A has been shown to interact with: * RIMS1, *UNC13A, * RPH3A Rabphilin-3A is a protein that in humans is encoded by the ''RPH3A'' gene. It contains two C2 domains and binds calcium ions at low micromolar concentration. Rabphilin was shown to regulate neurotransmitter release in hippocampal neurons after neu ..., and * CHM. References Further reading

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ERC2 (gene)
ERC protein 2 is a protein that in humans is encoded by the ''ERC2'' gene. Interactions ERC2 (gene) has been shown to interact with PPFIA4, RIMS1, UNC13A, and liprin-alpha-1 Liprin-alpha-1 is a protein that in humans is encoded by the ''PPFIA1'' gene. Function The protein encoded by this gene is a member of the LAR protein tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LA .... References Further reading

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RIMS2
Regulating synaptic membrane exocytosis protein 2 is a protein that in humans is encoded by the ''RIMS2'' gene. Interactions RIMS2 has been shown to interact with YWHAH, RAPGEF4, and UNC13A Unc-13 homolog A (''C. elegans'') is a protein that in humans is encoded by the UNC13A gene. Function This gene encodes a member of the UNC13 family. UNC13A plays a role in vesicle maturation during exocytosis as a target of the diacylglycero .... References Further reading

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RIMS1
Regulating synaptic membrane exocytosis protein 1 is a protein that in humans is encoded by the ''RIMS1'' gene. Function RAB3A (MIM 179490), a member of the Ras superfamily of genes, is a synaptic vesicle protein that regulates synaptic vesicle exocytosis. MUNC13 (UNC13; MIM 605836) and its isoforms are required for priming synaptic vesicles for exocytosis. The RIM family of active zone proteins likely function as protein scaffolds that help regulate vesicle exocytosis during short-term plasticity. upplied by OMIMref name="entrez"/> Clinical significance Mutations of the gene cause cone-rod dystrophy 7. Interactions RIMS1 has been shown to interact with: * ERC2, * RAB3A, *UNC13A, * UNC13B, and * YWHAH 14-3-3 protein eta also referred to as 14-3-3η is a protein that in humans is encoded by the ''YWHAH'' gene. Function This gene product belongs to the 14-3-3 family of proteins that are normally intracellular in nature and help to mediate si .... References ...
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DOC2A
Double C2-like domain-containing protein alpha is a protein that in humans is encoded by the ''DOC2A'' gene. There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains. DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene which was initially named DOC-2. DOC2A is mainly expressed in brain and is suggested to be involved in Ca(2+)-dependent neurotransmitter release. Interactions DOC2A has been shown to interact with UNC13B and UNC13A Unc-13 homolog A (''C. elegans'') is a protein that in humans is encoded by the UNC13A gene. Function This gene encodes a member of the UNC13 family. UNC13A plays a role in vesicle maturation during exocytosis as a target of the diacylglycero .... References Further reading

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C1 Domain
C1 domain (also known as phorbol esters/diacylglycerol binding domain) binds an important secondary messenger diacylglycerol (DAG), as well as the analogous phorbol esters. Phorbol esters can directly stimulate protein kinase C, PKC. Phorbol esters (such as PMA) are analogues of DAG and potent tumor promoters that cause a variety of physiological changes when administered to both cells and tissues. DAG activates a family of serine/threonine protein kinases, collectively known as protein kinase C (PKC). Phorbol esters can directly stimulate PKC. The N-terminal region of PKC, known as C1, binds PMA and DAG in a phospholipid and zinc-dependent fashion. The C1 region contains one or two copies of a cysteine-rich domain, which is about 50 amino-acid residues long, and which is essential for DAG/PMA-binding. The DAG/PMA-binding domain binds two zinc ions; the ligands of these metal ions are probably the six cysteines and two histidines that are conserved in this domain. Human protein ...
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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 ...
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Single Nucleotide Polymorphism
In genetics, a single-nucleotide polymorphism (SNP ; plural SNPs ) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in a sufficiently large fraction of the population (e.g. 1% or more), many publications do not apply such a frequency threshold. For example, at a specific base position in the human genome, the G nucleotide may appear in most individuals, but in a minority of individuals, the position is occupied by an A. This means that there is a SNP at this specific position, and the two possible nucleotide variations – G or A – are said to be the alleles for this specific position. SNPs pinpoint differences in our susceptibility to a wide range of diseases, for example age-related macular degeneration (a common SNP in the CFH gene is associated with increased risk of the disease) or nonalcoholic fatty liver disease (a SNP in the PNPLA3 gene is associated with incr ...
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STX1A
Syntaxin-1A is a protein that in humans is encoded by the ''STX1A'' gene. Function Synaptic vesicles store neurotransmitters that are released during calcium-regulated exocytosis. The specificity of neurotransmitter release requires the localization of both synaptic vesicles and calcium channels to the presynaptic In the nervous system, a synapse is a structure that permits a neuron (or nerve cell) to pass an electrical or chemical signal to another neuron or to the target effector cell. Synapses are essential to the transmission of nervous impulses from ... active zone. Syntaxins function in this vesicle fusion process. Syntaxin-1A is a member of the syntaxin superfamily. Syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane. Syntaxins possess a single C-terminus, C-terminal transmembrane domain, a SNARE (protein), SNARE [Soluble NSF (N-ethylmaleimide-sensitive fusion protein)-Attachment protei ...
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Phorbol Ester
Phorbol esters are a class of chemical compounds found in a variety of plants, particularly in the families Euphorbiaceae and Thymelaeaceae. Chemically, they are ester derivatives of the tetracyclic diterpenoid phorbol. Biological activity Protein kinase C (PKC) is a phorbol ester receptor. Phorbol esters can stimulate PKC in a similar way to diglycerides. Phorbol esters are known for their ability to promote tumors. In particular, 12-O-tetradecanoylphorbol-13-acetate (TPA) is used as a biomedical research tool in models of carcinogenesis. Plants that contain phorbol esters are often poisonous Poison is a chemical substance that has a detrimental effect to life. The term is used in a wide range of scientific fields and industries, where it is often specifically defined. It may also be applied colloquially or figuratively, with a broa .... References {{Chem-stub Diterpenes Carboxylate esters Cyclopentenes Plant toxins ...
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