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DLG3
Disks large homolog 3 (DLG3) also known as neuroendocrine-DLG or synapse-associated protein 102 (SAP-102) is a protein that in humans is encoded by the ''DLG3'' gene. DLG3 is a member of the membrane-associated guanylate kinase (MAGUK) superfamily of proteins. Interactions DLG3 has been shown to interact with: * APC, * CRIPT, * DLG4, * EXOC3, * EXOC4, * GRIN2A, * GRIN2B, * GRIN2C, * KCNJ12 * PTK2B, and * SYNGAP1. Model organisms Model organisms have been used in the study of DLG3 function. A conditional knockout mouse line called ''Dlg3tm1a(EUCOMM)Wtsi'' was generated at the Wellcome Trust Sanger Institute. Male and female animals underwent a standardized phenotypic screen In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological proper ... to determine the effects of deletion. Additio ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DLG4
PSD-95 (postsynaptic density protein 95) also known as SAP-90 (synapse-associated protein 90) is a protein that in humans is encoded by the ''DLG4'' (discs large homolog 4) gene. PSD-95 is a member of the membrane-associated guanylate kinase (MAGUK) family. With PSD-93 it is recruited into the same NMDA receptor and potassium channel clusters. These two MAGUK proteins may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. PSD-95 is the best studied member of the MAGUK-family of PDZ domain-containing proteins. Like all MAGUK-family proteins, its basic structure includes three PDZ domains, an SH3 domain, and a guanylate kinase-like domain (GK) connected by disordered linker regions. It is almost exclusively located in the post synaptic density of neurons, and is involved in anchoring synaptic proteins. Its direct and indirect binding partners include neuroligin, NMDA receptors, AMPA rece ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PTK2B
Protein tyrosine kinase 2 beta is an enzyme that in humans is encoded by the ''PTK2B'' gene. Function This gene encodes a cytoplasmic protein tyrosine kinase that is involved in calcium-induced regulation of ion channels and activation of the map kinase signaling pathway. The encoded protein may represent an important signaling intermediate between neuropeptide-activated receptors or neurotransmitters that increase calcium flux and the downstream signals that regulate neuronal activity. The encoded protein undergoes rapid tyrosine phosphorylation and activation in response to increases in the intracellular calcium concentration , nicotinic acetylcholine receptor activation, membrane depolarization, or protein kinase C activation. In addition, SOCE-induced Pyk2 activation mediates disassembly of endothelial adherens junctions, via tyrosine (Y1981-residue) phosphorylation of VE-PTP. This protein has been shown to bind a CRK-associated substrate, a nephrocystin, a GTPase reg ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
EXOC4
Exocyst complex component 4 is a protein that in humans is encoded by the ''EXOC4'' gene. Function The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. Interactions EXOC4 has been shown to interact with: * DLG3, * DLG4, * EXOC3, * EXOC7, and * GRIN2B Glutamate MDAreceptor subunit epsilon-2, also known as ''N''-methyl D-aspartate rece ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SYNGAP1
Synaptic Ras GTPase-activating protein 1, also known as synaptic Ras-GAP 1 or SYNGAP1, is a protein that in Human, humans is encoded by the ''SYNGAP1'' gene. SYNGAP1 is a ras (protein), ras GTPase-activating protein that is critical for the development of cognition and proper chemical synapse, synapse function. Mutations in humans can cause intellectual disability, epilepsy, autism and sensory processing deficits. Function SynGAP1 is a complex protein with several functions that may be regulated temporally via complex Protein isoform, isoforms. A well-documented function of SynGAP1 involves NMDA receptor-mediated synaptic plasticity and membrane insertion of AMPA receptors through the suppression of upstream signaling pathways. However, SynGAP1 has also been shown to function cooperatively with ULK2, Unc51.1 in axon formation. One way SynGAP1 affects these processes is through the MAPK/ERK pathway, MAP kinase signaling pathway by attenuation of Ras subfamily, Ras signalling. Ho ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
KCNJ12
ATP-sensitive inward rectifier potassium channel 12 is a lipid-gated ion channel that in humans is encoded by the ''KCNJ12'' gene. Function This gene encodes an inwardly rectifying K+ channel that may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels that contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith–Magenis syndrome region on chromosome 17. Interactions KCNJ12 has been shown to interact with: * APBA1, * CASK, * DLG1, * DLG2, * DLG3, * DLG4, * LIN7A * LIN7B, and * LIN7C. See also * Inward-rectifier potassium channel Inward-rectifier potassium channels (Kir, IRK) are a specific lipid-gated subset of potassium channels. To date, seven subfamilies have been identified in various mammalian cell types, plants, and bacteria. They are activated by phosphatidylino ... References Further reading * * * * * * * * * * * * * External li ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GRIN2C
Glutamate MDAreceptor subunit epsilon-3 is a protein that in humans is encoded by the ''GRIN2C'' gene. Function N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA channel has been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed of the key receptor subunit NMDAR1 (GRIN1) and 1 or more of the 4 NMDAR2 subunits: NMDAR2A ( GRIN2A), NMDAR2B (GRIN2B), NMDAR2C (GRIN2C), and NMDAR2D ( GRIN2D). Interactions GRIN2C has been shown to interact with DLG4 and DLG3. See also * Glutamate receptor * NMDA receptor The ''N''-methyl-D-aspartate receptor (also known as the NMDA receptor or NMDAR), is a glutamate receptor and ion channel found in neurons. The NMDA receptor is one of three types of ionotropic glutamate receptors, the other two being AMPA rece ... Referenc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GRIN2B
Glutamate MDAreceptor subunit epsilon-2, also known as ''N''-methyl D-aspartate receptor subtype 2B (NMDAR2B or NR2B), is a protein that in humans is encoded by the ''GRIN2B'' gene. NMDA receptors ''N''-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. The NMDA receptor channel has been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heterotetramers composed of two molecules of the key receptor subunit NMDAR1 (GRIN1) and two drawn from one or more of the four NMDAR2 subunits: NMDAR2A ( GRIN2A), NMDAR2B (GRIN2B), NMDAR2C ( GRIN2C), and NMDAR2D ( GRIN2D). The NR2 subunit acts as the agonist binding site for glutamate, one of the predominant excitatory neurotransmitter receptors in the mammalian brain. Function NR2B has been associated with age- and visual-experience-dependent plasticity in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GRIN2A
Glutamate MDAreceptor subunit epsilon-1 is a protein that in humans is encoded by the ''GRIN2A'' gene. The canonical GluN2A subunit isoform encompasses 1464 amino acids. Alternative splicing can generate a primate-specific GluN2A-short isoform (1281 amino acids). Function N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA channel has been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed of the key receptor subunit NMDAR1 (GRIN1) and 1 or more of the 4 NMDAR2 subunits: NMDAR2A (GRIN2A), NMDAR2B (GRIN2B), NMDAR2C (GRIN2C), and NMDAR2D ( GRIN2D). Associations Variants of the gene are associated with the protective effect of coffee on Parkinson's disease. Mutations in GRIN2A are associated to refractory epilepsy. Whole exome/genome sequencing has led to the dis ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
EXOC3
Exocyst complex component 3 is a protein that in humans is encoded by the ''EXOC3'' gene. Function The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. Interactions EXOC3 has been shown to interact with DLG3 and EXOC4 Exocyst complex component 4 is a protein that in humans is encoded by the ''EXOC4'' gene. Function The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
APC (gene)
Adenomatous polyposis coli (APC) also known as deleted in polyposis 2.5 (DP2.5) is a protein that in humans is encoded by the ''APC'' gene. The APC protein is a negative regulator that controls beta-catenin concentrations and interacts with E-cadherin, which are involved in cell adhesion. Mutations in the ''APC'' gene may result in colorectal cancer. ''APC'' is classified as a tumor suppressor gene. Tumor suppressor genes prevent the uncontrolled growth of cells that may result in cancerous tumors. The protein made by the ''APC'' gene plays a critical role in several cellular processes that determine whether a cell may develop into a tumor. The APC protein helps control how often a cell divides, how it attaches to other cells within a tissue, how the cell polarizes and the morphogenesis of the 3D structures, or whether a cell moves within or away from tissue. This protein also helps ensure that the chromosome number in cells produced through cell division is correct. The APC p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Membrane-associated Guanylate Kinase
The membrane-associated guanylate kinases (MAGUK) are a superfamily of proteins. The MAGUKs are defined by their inclusion of PDZ, SH3 and GUK domains, although many of them also contain regions homologous of CaMKII, WW and L27 domains. The GUK domain that they have is structurally very similar to that of the guanylate kinases, however it is known to be catalytically inactive as the P-Loop which binds ATP is absent. It is thought that the MAGUKs have subfunctionalized the GUK domain for their own purposes, primarily based on its ability to form protein–protein interactions with cytoskeleton proteins, microtubule/actin based machinery and molecules involved in signal transduction. MAGUKs also contain multiple PDZ domains, or short peptide binding sequences commonly bind to the C-terminus of interacting proteins. The number of PDZ domain copies varies between different members of the MAGUK family. The PDZ domains found within each family member often have different binding p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Haematology
Hematology ( always spelled haematology in British English) is the branch of medicine concerned with the study of the cause, prognosis, treatment, and prevention of diseases related to blood. It involves treating diseases that affect the production of blood and its components, such as blood cells, hemoglobin, blood proteins, bone marrow, platelets, blood vessels, spleen, and the mechanism of coagulation. Such diseases might include hemophilia, blood clots (thrombus), other bleeding disorders, and blood cancers such as leukemia, multiple myeloma, and lymphoma. The laboratory analysis of blood is frequently performed by a medical technologist or medical laboratory scientist. Specialization Physicians specialized in hematology are known as hematologists or haematologists. Their routine work mainly includes the care and treatment of patients with hematological diseases, although some may also work at the hematology laboratory viewing blood films and bone marrow slides under the mi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
