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SNAPAP
SNARE-associated protein Snapin is a protein that in humans is encoded by the ''SNAPIN'' gene. Function SNAPAP is a component of the SNARE complex of proteins that is required for synaptic vesicle docking and fusion. SNAPAP is also a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules. Snapin has been established to be a promoter of vesicle docking, as it plays a role in binding to SNAP-25, which together stabilize and favor SNARE complex assembly and vesicle docking. Specifically, the degree to which snapin is necessary for proper synaptic release varies across species. The functions of snapin have been reported to be independent of synaptotagmin, and works through the SNAP-25 pathway to stabilize, prime, and dock vesicles. Interactions SNAPAP has been shown to interact with: * BLOC1S1, * BLOC1S ...
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BLOC1
BLOC-1 or biogenesis of lysosome-related organelles complex 1 is a ubiquitously expressed multisubunit protein complex in a group of complexes that also includes BLOC-2 and BLOC-3. BLOC-1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules. These organelles are called LROs ( lysosome-related organelles) which are apparent in specific cell-types, such as melanocytes. The importance of BLOC-1 in membrane trafficking appears to extend beyond such LROs, as it has demonstrated roles in normal protein-sorting, normal membrane biogenesis, as well as vesicular trafficking. Thus, BLOC-1 is multi-purposed, with adaptable function depending on both organism and cell-type. Components The identified protein subunits of BLOC-1 include: * pallidin * muted (protein) * dysbindin * cappuccino (protein) * snapin * BLOS1 * BLOS2 * BLOS3 Structure Ultracentrifugation coupled with electron micros ...
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Dysbindin
Dysbindin, short for dystrobrevin-binding protein 1, is a protein constituent of the dystrophin-associated protein complex (DPC) of skeletal muscle cells. It is also a part of BLOC-1, or biogenesis of lysosome-related organelles complex 1.In humans, dysbindin is encoded by the ''DTNBP1'' gene. Discovery Dysbindin was discovered by the research group of Derek Blake via yeast two-hybrid screening for binding partners of α-dystrobrevin. Tissue distribution Dysbindin is found in neural tissue of the brain, particularly in axon bundles and especially in certain axon terminals, notably mossy fiber synaptic terminals in the cerebellum and hippocampus. Structure Dysbindin is a coiled-coil-containing protein that serves as a core, stable component of the biogenesis of lysosome-related organelles complex 1 (BLOC-1), a multisubunit complex involved in intracellular protein trafficking and synaptic function. Structurally, dysbindin engages in direct interactions with other ...
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SNAP-25
Synaptosomal-Associated Protein, 25kDa (SNAP-25) is a Target Soluble NSF (''N''-ethylmaleimide-sensitive factor) Attachment Protein Receptor ( t-SNARE) protein encoded by the ''SNAP25'' gene found on chromosome 20p12.2 in humans. SNAP-25 is a component of the ''trans''-SNARE complex, which accounts for membrane fusion specificity and directly executes fusion by forming a tight complex that brings the synaptic vesicle and plasma membranes together. Structure and function SNAP-25, a Q-SNARE protein, is anchored to the cytosolic face of membranes via palmitoyl side chains covalently bound to cysteine amino acid residues in the central linker domain of the molecule. This means that SNAP-25 does not contain a trans-membrane domain. SNAP-25 has been identified to contribute two α-helices to the SNARE complex, a four-α-helix domain complex. The SNARE complex participates in vesicle fusion, which involves the docking, priming and merging of a vesicle with the cell membran ...
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BLOC1S1
Biogenesis of lysosome-related organelles complex 1 subunit 1 is a protein that in humans is encoded by the ''BLOC1S1'' gene. BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004). upplied by OMIMref name="entrez" /> Interactions BLOC1S1 has been shown to interact with BLOC1S2, SNAPAP SNARE-associated protein Snapin is a protein that in humans is encoded by the ''SNAPIN'' gene. Function SNAPAP is a component of the SNARE complex of proteins that is required for synaptic vesicle docking and fusion. SNAPAP is also a componen ... and PLDN. References External links * Further reading

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BLOC1S2
Biogenesis of lysosome-related organelles complex 1 subunit 2 is a protein that in humans is encoded by the ''BLOC1S2'' gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. 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: protei .... Interactions BLOC1S2 has been shown to interact with BLOC1S1, SNAPAP, MUTED, CNO and PLDN. References External links * Further reading

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PLDN
Pallidin is a protein that in humans is encoded by the ''PLDN'' gene. Function The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. Interactions PLDN has been shown to interact with: * BLOC1S1, * BLOC1S2, * CNO, * Dysbindin, * MUTED, * SNAPAP, and * STX12 Syntaxin-12 is a protein that in humans is encoded by the ''STX12'' gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed .... References Further reading

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RGS7
Regulator of G-protein signaling 7 is a protein that in humans is encoded by the ''RGS7'' gene. RGS7 is highly enriched in the brain where it acts as a universal inhibitor of Gi/o-coupled GPCR. RGS7 is a GTPase-activating protein (GAP). It accelerates the GTP hydrolysis on G proteins determining their fast inactivation and acting as intracellular antagonists of GPCR signaling. Interactions RGS7 has been shown to interact with: * GNB5, * GPR158, * GPR179, * PKD1, and * SNAPAP SNARE-associated protein Snapin is a protein that in humans is encoded by the ''SNAPIN'' gene. Function SNAPAP is a component of the SNARE complex of proteins that is required for synaptic vesicle docking and fusion. SNAPAP is also a componen .... References Further reading

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SNAP23
Synaptosomal-associated protein 23 is a protein that in humans is encoded by the ''SNAP23'' gene. Two alternative transcript variants encoding different protein isoforms have been described for this gene. Function Specificity of vesicular transport is regulated, in part, by the interaction of a vesicle-associated membrane protein termed synaptobrevin/VAMP with a target compartment membrane protein termed syntaxin. These proteins, together with SNAP25 (synaptosome-associated protein of 25 kDa), form a complex which serves as a binding site for the general membrane fusion machinery. Synaptobrevin/VAMP and syntaxin are believed to be involved in vesicular transport in most, if not all cells, while SNAP25 is present almost exclusively in the brain, suggesting that a ubiquitously expressed homolog of SNAP25 exists to facilitate transport vesicle/target membrane fusion in other tissues. SNAP23 is structurally and functionally similar to SNAP25 and binds tightly to multiple syntaxins ...
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Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metabolic reactions, DNA replication, Cell signaling, responding to stimuli, providing Cytoskeleton, structure to cells and Fibrous protein, organisms, and Intracellular transport, transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the Nucleic acid sequence, nucleotide sequence of their genes, and which usually results in protein folding into a specific Protein structure, 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 pep ...
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Gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. 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 non-coding genes. During gene expression (the synthesis of Gene product, RNA or protein from a gene), DNA is first transcription (biology), copied into RNA. RNA can be non-coding RNA, directly functional or be the intermediate protein biosynthesis, template for the synthesis of a protein. The transmission of genes to an organism's offspring, is the basis of the inheritance of phenotypic traits from one generation to the next. These genes make up different DNA sequences, together called a genotype, that is specific to every given individual, within the gene pool of the population (biology), population of a given species. The genotype, along with environmental and developmental factors, ultimately determines the phenotype ...
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SNARE (protein)
SNARE proteins – " SNAP REceptors" – are a large protein family consisting of at least 24 members in yeasts and more than 60 members in mammalian and plant cells. The primary role of SNARE proteins is to mediate the fusion of vesicles with the target membrane; this notably mediates exocytosis, but can also mediate the fusion of vesicles with membrane-bound compartments (such as a lysosome). The best studied SNAREs are those that mediate the release of synaptic vesicles containing neurotransmitters in neurons. These neuronal SNAREs are the targets of the neurotoxins responsible for botulism and tetanus produced by certain bacteria. Types SNAREs can be divided into two categories: ''vesicle'' or ''v-SNAREs'', which are incorporated into the membranes of transport vesicles during budding, and ''target'' or ''t-SNAREs'', which are associated with nerve terminal membranes. Evidence suggests that t-SNAREs form stable subcomplexes which serve as guides for v-SNARE, incorpo ...
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Synaptotagmin
Synaptotagmins (SYTs) constitute a family of cell membrane, membrane-trafficking proteins that are characterized by an N-terminal transmembrane region (TMR), a variable linker, and two C-terminal C2 domains - C2A and C2B. There are 17 Protein isoform, isoforms in the mammalian synaptotagmin family. There are several C2-domain containing protein families that are related to synaptotagmins, including transmembrane (Ferlins, Extended-Synaptotagmin (E-Syt) membrane proteins, and MCTPs) and soluble (RIMS1 and RIMS2, UNC13D, synaptotagmin-related proteins and B/K) proteins. The family includes SYT1, synaptotagmin 1, a Ca2+ sensor in the membrane of the pre-synaptic axon terminal, coded by gene SYT1. Functions Based on their brain/endocrine distribution and biochemical properties, in particular C2 domains of certain synaptotagmins bound to calcium, synaptotagmins were proposed to function as calcium sensors in the regulation of neurotransmitter release and hormone secretion. Although syna ...
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