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| MAPK12 | Mitogen-activated protein kinase 12; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK12 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as proinflammatory cytokines or physical stress leading to direct activation of transcription factors such as ELK1 and ATF2. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. Some of the targets are downstre [...] (367 aa) | |||
| SNTA1 | Alpha-1-syntrophin; Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the extracellular matrix via the dystrophin glycoprotein complex. Plays an important role in synapse formation and in the organization of UTRN and acetylcholine receptors at the neuromuscular synapse. Binds to phosphatidylinositol 4,5- bisphosphate (By similarity); PDZ domain containing (505 aa) | |||
| MAST1 | Microtubule-associated serine/threonine-protein kinase 1; Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins. Phosphorylation of DMD or UTRN may modulate their affinities for associated proteins (By similarity); Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family (1570 aa) | |||
| TGFA | Protransforming growth factor alpha; TGF alpha is a mitogenic polypeptide that is able to bind to the EGF receptor/EGFR and to act synergistically with TGF beta to promote anchorage-independent cell proliferation in soft agar (160 aa) | |||
| NOS3 | Nitric oxide synthase, endothelial; Produces nitric oxide (NO) which is implicated in vascular smooth muscle relaxation through a cGMP-mediated signal transduction pathway. NO mediates vascular endothelial growth factor (VEGF)-induced angiogenesis in coronary vessels and promotes blood clotting through the activation of platelets (1203 aa) | |||
| SCN1A | Sodium channel protein type 1 subunit alpha; Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. Plays a key role in brain, probably by regulating the moment when neurotransmitters are released in neurons. Involved in sensory perception of mechanical pain- activation in somatosensory neurons induces pain without neurogenic inflammatio [...] (2009 aa) | |||
| SNTG2 | Gamma-2-syntrophin; Adapter protein that binds to and probably organizes the subcellular localization of a variety of proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex (By similarity); Belongs to the syntrophin family (539 aa) | |||
| NOS2 | Nitric oxide synthase, inducible; Produces nitric oxide (NO) which is a messenger molecule with diverse functions throughout the body. In macrophages, NO mediates tumoricidal and bactericidal actions. Also has nitrosylase activity and mediates cysteine S-nitrosylation of cytoplasmic target proteins such PTGS2/COX2 (By similarity). As component of the iNOS-S100A8/9 transnitrosylase complex involved in the selective inflammatory stimulus-dependent S-nitrosylation of GAPDH on ’Cys-247’ implicated in regulation of the GAIT complex activity and probably multiple targets including ANXA5, EZR [...] (1153 aa) | |||
| CALM1 | Calmodulin-1; Calmodulin mediates the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding. Among the enzymes to be stimulated by the calmodulin-calcium complex are a number of protein kinases and phosphatases. Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis. Mediates calcium-dependent inactivation of CACNA1C. Positively regulates calcium-activated potassium channel activity of KCNN2 (149 aa) | |||
| MAGEE1 | Melanoma-associated antigen E1; May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3-substrate complex; MAGE family (957 aa) | |||
| DMD | Dystrophin; Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin- associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission; X-linked mental retardation (3685 aa) | |||
| UTRN | Utrophin; May play a role in anchoring the cytoskeleton to the plasma membrane; Zinc fingers ZZ-type (3433 aa) | |||
| ABCA1 | ATP-binding cassette sub-family A member 1; cAMP-dependent and sulfonylurea-sensitive anion transporter. Key gatekeeper influencing intracellular cholesterol transport; Belongs to the ABC transporter superfamily. ABCA family (2261 aa) | |||
| ABCC4 | Multidrug resistance-associated protein 4; May be an organic anion pump relevant to cellular detoxification; ATP binding cassette subfamily C (1325 aa) | |||
| ADRA1D | Alpha-1D adrenergic receptor; This alpha-adrenergic receptor mediates its effect through the influx of extracellular calcium; Adrenoceptors (572 aa) | |||
| SPZ1 | Spermatogenic leucine zipper protein 1; Transcription factor that binds to the DNA sequence 5’- CANNTG-3’(E box) and the G-box motif. May play an important role in the regulation of cell proliferation and differentiation during spermatogenesis (By similarity); Protein phosphatase 1 regulatory subunits (430 aa) | |||
| GRB2 | Growth factor receptor-bound protein 2; Adapter protein that provides a critical link between cell surface growth factor receptors and the Ras signaling pathway; SH2 domain containing (217 aa) | |||
| DTNB | Dystrobrevin beta; Zinc fingers ZZ-type; Belongs to the dystrophin family. Dystrobrevin subfamily (627 aa) | |||
| SCN4A | Sodium channel protein type 4 subunit alpha; This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. This sodium channel may be present in both denervated and innervated skeletal muscle; Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.4/SCN4A subfamily (1836 aa) | |||
| ACTA2 | Actin, aortic smooth muscle; Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells; Belongs to the actin family (377 aa) | |||
| SCN5A | Sodium channel protein type 5 subunit alpha; This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-resistant Na(+) channel isoform. This channel is responsible for the initial upstroke of the action potential. Channel inactivation is regulated by intracellular calcium levels; Sodium voltage-gated channe [...] (2016 aa) | |||
| DGKZ | Diacylglycerol kinase zeta; Displays a strong preference for 1,2-diacylglycerols over 1,3-diacylglycerols, but lacks substrate specificity among molecular species of long chain diacylglycerols. Isoform 2 but not isoform 1 regulates RASGRP1 activity; Belongs to the eukaryotic diacylglycerol kinase family (1117 aa) | |||
| BAI1 | Adhesion G protein-coupled receptor B1; Phosphatidylserine receptor which enhances the engulfment of apoptotic cells. Also mediates the binding and engulfment of Gram-negative bacteria. Stimulates production of reactive oxygen species by macrophages in response to Gram-negative bacteria, resulting in enhanced microbicidal macrophage activity. In the gastric mucosa, required for recognition and engulfment of apoptotic gastric epithelial cells. Promotes myoblast fusion (By similarity). Activates the Rho pathway in a G-protein-dependent manner. Inhibits MDM2-mediated ubiquitination and de [...] (1584 aa) | |||
| DTNA | Dystrobrevin alpha; May be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors; Belongs to the dystrophin family. Dystrobrevin subfamily (724 aa) | |||
| SLC6A14 | Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+); Mediates the uptake of a broad range of neutral and cationic amino acids (with the exception of proline) in a Na(+)/Cl(-)-dependent manner; Solute carriers (642 aa) | |||
| NOS1 | Nitric oxide synthase, brain; Produces nitric oxide (NO) which is a messenger molecule with diverse functions throughout the body. In the brain and peripheral nervous system, NO displays many properties of a neurotransmitter. Probably has nitrosylase activity and mediates cysteine S-nitrosylation of cytoplasmic target proteins such SRR; Belongs to the NOS family (1468 aa) | |||
