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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 chemical synapse, presynaptic 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 protein REceptor] domain (known as H3), and an N-terminus, N-terminal regulatory domain (Habc). Syntaxins bind synaptotagmin in a calcium-dependent fashion and interact with voltage dependent calcium and potassium channels via the C-terminal H3 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Vesicle-associated Membrane Protein 8
Vesicle-associated membrane protein 8 is a protein that in humans is encoded by the ''VAMP8'' gene. Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. It is associated with the perinuclear vesicular structures of the early endocytic compartment. It has been found that VAMP8 interacts specifically with the soluble NSF-attachment protein (alpha-SNAP), most likely through an VAMP8-containing SNARE complex. Phosphorylation of VAMP8 inside the conserved SNARE-domain can suppress vesicle fusion. Interactions Vesicle-associated membrane protein 8 has been shown to interact with STX4, SNAP23, STX1A, STX8 and STX7 Syntaxin-7 is a protein that in humans is encoded by the ''STX7'' gene In biology, th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CPLX1
Complexin-1 is a protein that in humans is encoded by the ''CPLX1'' gene. Function Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and disrupts it, allowing transmitter release. Interactions CPLX1 has been shown to interact with SNAP-25 and 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 localiz .... References External links * Further reading * * * * * * * * * * {{protein-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
VAMP2
Vesicle-associated membrane protein 2 (VAMP2) is a protein that in humans is encoded by the ''VAMP2'' gene. Function Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. VAMP2 is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. VAMP2 is thought to participate in neurotransmitter release at a step between docking and fusion. Mice lacking functional synaptobrevin2/VAMP2 gene cannot survive after birth, and have a dramatically reduced synaptic transmission, around 10% of control. The protein forms a stable complex with syntaxin, synaptosomal-associated protein, 25 kD, and complexin. It also forms a distinct complex with synaptophysin. Clinical significance Heterozygous mutations in VAMP2 cause a neurodevelopmental disorder with hypotonia and autistic features (with or withou ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
UNC13B
Protein unc-13 homolog B is a protein that in humans is encoded by the ''UNC13B'' gene. Function This gene is expressed in the kidney cortical epithelial cells and is upregulated by hyperglycemia. The encoded protein shares a high level of similarity to the rat homolog, and contains 3 C2 domains and a diacylglycerol-binding C1 domain. Hyperglycemia increases the levels of diacylglycerol, which has been shown to induce apoptosis in cells transfected with this gene and thus contribute to the renal cell complications of hyperglycemia. Studies in other species also indicate a role for this protein in the priming step of synaptic vesicle exocytosis. Interactions UNC13B has been shown to interact with: * DOC2A, * RIMS1, * SPTBN2, * 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 l ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SYT1
Synaptotagmin-1 is a protein that in humans is encoded by the ''SYT1'' gene. Function Synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as sensors for calcium ions (Ca2+) in the process of vesicular trafficking and exocytosis. Calcium ion binding to synaptotagmin I participates in triggering neurotransmitter release at the synapse. OMIM] SYT1 is the master switch responsible for allowing the human brain to release neurotransmitters. SYT1 senses calcium ion concentrations as low as 10 ppm and subsequently signals the SNARE complex to open fusion pores. * Interactions SYT1 has been shown to interact with SNAP-25, STX1A and S100A13. Clinical Significance Mutations in the ''SYT1'' gene cause a rare neurodevelopmental disorder Neurodevelopmental disorders are a group of mental conditions negatively affecting the development of the nervous system, which includes the brain and spinal cord. According to the American Psychiatric Association D ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
STXBP5
Syntaxin-binding protein 5 is a protein that in humans is encoded by the ''STXBP5'' gene. It is also known as tomosyn, after , "friend" in Japanese, for its role as a binding protein. Function Syntaxin 1 is a component of the 7S and 20S SNARE complexes which are involved in docking and fusion of synaptic vesicles with the presynaptic plasma membrane. This gene encodes a syntaxin 1 binding protein. In rat, a similar protein dissociates syntaxin 1 from the Munc18/n-Sec1/rbSec1 complex to form a 10S complex, an intermediate which can be converted to the 7S SNARE complex. Thus this protein is thought to be involved in neurotransmitter release by stimulating SNARE complex formation. Alternatively spliced variants have been identified, but their biological validity has not been determined. Positional cloning suggested that tomosyn might inhibit neurotransmitter secretion in ''Caenorhabditis elegans'' neurons.] This hypothesis was tested and confirmed, showing that tomosyn specifical ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SLC6A1
GABA transporter 1 (GAT1) also known as sodium- and chloride-dependent GABA transporter 1 is a protein that in humans is encoded by the ''SLC6A1'' gene and belongs to the solute carrier 6 (SLC6) family of transporters. It mediates gamma-aminobutyric acid's translocation from the extracellular to intracellular spaces within brain tissue and the central nervous system as a whole. Structure GAT1 is a 599 amino acid protein that consists of 12 transmembrane domains with an intracellular N-terminus and C-terminus. Function GAT1 is a gamma-aminobutyric acid (GABA) transporter, which removes GABA from the synaptic cleft by shuttling it to presynaptic neurons (where GABA can be recycled) and astrocytes (where GABA can be broken down). GABA Transporter 1 uses energy from the dissipation of a Na+ gradient, aided by the presence of a Cl− gradient, to translocate GABA across CNS neuronal membranes. The stoichiometry for GABA Transporter 1 is 2 Na+: 1 Cl−: 1 GABA. The presence of a Cl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SCNN1G
The ''SCNN1G'' gene encodes for the γ subunit of the epithelial sodium channel ENaC in vertebrates. ENaC is assembled as a heterotrimer composed of three homologous subunits α, β, and γ or δ, β, and γ. The other ENAC subunits are encoded by '' SCNN1A'', '' SCNN1B'', and '' SCNN1D''. ENaC is expressed in epithelial cells and is different from the voltage-gated sodium channel that is involved in the generation of action potentials in neurons. The abbreviation for the genes encoding for voltage-gated sodium channel starts with three letters: SCN. In contrast to these sodium channels, ENaC is constitutively active and is not voltage-dependent. The second N in the abbreviation (SCNN1) represents that these are NON-voltage-gated channels. In most vertebrates, sodium ions are the major determinant of the osmolarity of the extracellular fluid. ENaC allows transfer of sodium ions across the epithelial cell membrane in so-called "tight-epithelia" that have low permeability. The flow ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RNF40
E3 ubiquitin-protein ligase BRE1B is an enzyme that in humans is encoded by the ''RNF40'' gene. Function The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein was reported to interact with the tumor suppressor protein RB1. Studies of the rat counterpart suggested that this protein may function as an E3 ubiquitin-protein ligase, and facilitate the ubiquitination and degradation of syntaxin 1, which is an essential component of the neurotransmitter release machinery. Interactions RNF40 has been shown to interact with 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 localiz .... References Further reading * * * * RING finger proteins {{gene-16-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NAPA (gene)
N-ethylmaleimide-sensitive factor Attachment Protein Alpha, also known as SNAP-α, is a SNAP protein that is involved in the intra-cellular trafficking and fusing of vesicles to target membranes in cells. Function The 'SNARE hypothesis' is a model explaining the process of docking and fusion of vesicles to their target membranes. According to this model, membrane proteins from the vesicle (v-SNAREs) and proteins from the target membrane (t-SNAREs) govern the specificity of vesicle targeting and docking through mutual recognition. Once the 2 classes of SNAREs bind to each other, they form a complex that recruits the general elements of the fusion apparatus, namely NSF (N-ethylmaleimide-sensitive factor) and SNAPs (soluble NSF-attachment proteins), to the site of membrane fusion, thereby forming the 20S fusion complex. Alpha- and gamma-SNAP are found in a wide range of tissues and act synergistically in intra-Golgi transport. The sequence of the predicted 295-amino acid human p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
