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| GSS | Glutathione synthetase; Belongs to the eukaryotic GSH synthase family (474 aa) | |||
| ATP1B4 | Protein ATP1B4; May act as a transcriptional coregulator during muscle development through its interaction with SNW1. Has lost its ancestral function as a Na,K-ATPase beta-subunit; Belongs to the X(+)/potassium ATPases subunit beta family (357 aa) | |||
| GCLC | Glutamate-cysteine ligase catalytic subunit (637 aa) | |||
| ATP1B2 | Sodium/potassium-transporting ATPase subunit beta-2; This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The exact function of the beta-2 subunit is not known; ATPase Na+/K+ transporting subunits (290 aa) | |||
| NALCN | Sodium leak channel non-selective protein; Voltage-independent, cation-nonselective channel which is permeable to sodium, potassium and calcium ions. Regulates the resting membrane potential and controls neuronal excitability. Neuropeptides such as neurotensin and substance P (SP) stimulate the firing of action potentials by activating NALCN through a SRC family kinases-dependent pathway. In addition to its baseline activity, NALCN activity is enhanced/modulated by several GPCRs. Required for normal respiratory rhythm and neonatal survival. Involved in systemic osmoregulation by contro [...] (1738 aa) | |||
| ABCG5 | ATP-binding cassette sub-family G member 5; ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane. Plays an essential role in the selective transport of dietary plant sterols and cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile. Required for normal sterol homeostasis. The heterodimer with ABCG8 has ATPase activity; ATP binding cassette subfamily G (651 aa) | |||
| MESDC2 | LRP chaperone MESD; Chaperone specifically assisting the folding of beta- propeller/EGF modules within the family of low-density lipoprotein receptors (LDLRs). Acts as a modulator of the Wnt pathway through chaperoning the coreceptors of the canonical Wnt pathway, LRP5 and LRP6, to the plasma membrane. Essential for specification of embryonic polarity and mesoderm induction. Plays an essential role in neuromuscular junction (NMJ) formation by promoting cell- surface expression of LRP4 (By similarity). May regulate phagocytosis of apoptotic retinal pigment epithelium (RPE) cells (By sim [...] (234 aa) | |||
| NOTCH3 | Neurogenic locus notch homolog protein 3; Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity) (2321 aa) | |||
| SLC9A1 | Sodium/hydrogen exchanger 1; Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction; Belongs to the monovalent cation-proton antiporter 1 (CPA1) transporter (TC 2.A.36) family (815 aa) | |||
| CACNA1C | Voltage-dependent L-type calcium channel subunit alpha-1C; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1C gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the ’high-voltage activated’ (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by o [...] (2186 aa) | |||
| TSPAN3 | Tetraspanin-3; Regulates the proliferation and migration of oligodendrocytes, a process essential for normal myelination and repair; Belongs to the tetraspanin (TM4SF) family (253 aa) | |||
| ABCG8 | ATP-binding cassette sub-family G member 8; ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane. Plays an essential role in the selective transport of the dietary cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile. Required for normal sterol homeostasis. The heterodimer with ABCG5 has ATPase activity; Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily (673 aa) | |||
| CATSPER3 | Cation channel sperm-associated protein 3; Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte; Cation channels sperm associated (398 aa) | |||
| SCN3A | Sodium channel protein type 3 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; Sodium voltage-gated channel alpha subunits (2000 aa) | |||
| ATP1B3 | Sodium/potassium-transporting ATPase subunit beta-3; This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The exact function of the beta-3 subunit is not known; ATPase Na+/K+ transporting subunits (279 aa) | |||
| FXYD2 | Sodium/potassium-transporting ATPase subunit gamma; May be involved in forming the receptor site for cardiac glycoside binding or may modulate the transport function of the sodium ATPase; Belongs to the FXYD family (66 aa) | |||
| BRI3 | Brain protein I3; Participates in tumor necrosis factor-alpha (TNF)- induced cell death. May be a target of Wnt/beta- catenin signaling in the liver; Belongs to the BRI3 family (125 aa) | |||
| CD320 | CD320 antigen; Receptor for transcobalamin saturated with cobalamin (TCbl). Plays an important role in cobalamin uptake. Plasma membrane protein that is expressed on follicular dendritic cells (FDC) and mediates interaction with germinal center B cells. Functions as costimulator to promote B cell responses to antigenic stimuli; promotes B cell differentiation and proliferation. Germinal center-B (GC-B) cells differentiate into memory B-cells and plasma cells (PC) through interaction with T-cells and follicular dendritic cells (FDC). CD320 augments the proliferation of PC precursors gen [...] (282 aa) | |||
| ATP4B | Potassium-transporting ATPase subunit beta; Required for stabilization and maturation of the catalytic proton pump alpha subunit and may also involved in cell adhesion and establishing epithelial cell polarity; ATPase H+/K+ transporting (291 aa) | |||
| ABCD4 | ATP-binding cassette sub-family D member 4; May be involved in intracellular processing of vitamin B12 (cobalamin). Could play a role in the lysosomal release of vitamin B12 into the cytoplasm; ATP binding cassette subfamily D (606 aa) | |||
| PLN | Cardiac phospholamban; Reversibly inhibits the activity of ATP2A2 in cardiac sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+). Modulates the contractility of the heart muscle in response to physiological stimuli via its effects on ATP2A2. Modulates calcium re-uptake during muscle relaxation and plays an important role in calcium homeostasis in the heart muscle. The degree of ATP2A2 inhibition depends on the oligomeric state of PLN. ATP2A2 inhibition is alleviated by PLN phosphorylation; Belongs to the phospholamban family (52 aa) | |||
| TMEM184B | Transmembrane protein 184B; May activate the MAP kinase signaling pathway (407 aa) | |||
| ATP1B1 | Sodium/potassium-transporting ATPase subunit beta-1; This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane; ATPase Na+/K+ transporting subunits (303 aa) | |||
| PTPRD | Receptor-type tyrosine-protein phosphatase delta; Can bidirectionally induce pre- and post-synaptic differentiation of neurons by mediating interaction with IL1RAP and IL1RAPL1 trans-synaptically. Involved in pre-synaptic differentiation through interaction with SLITRK2; Belongs to the protein-tyrosine phosphatase family. Receptor class 2A subfamily (1912 aa) | |||
| PARK7 | Protein/nucleic acid deglycase DJ-1; Protein and nucleotide deglycase that catalyzes the deglycation of the Maillard adducts formed between amino groups of proteins or nucleotides and reactive carbonyl groups of glyoxals. Thus, functions as a protein deglycase that repairs methylglyoxal- and glyoxal-glycated proteins, and releases repaired proteins and lactate or glycolate, respectively. Deglycates cysteine, arginine and lysine residues in proteins, and thus reactivates these proteins by reversing glycation by glyoxals. Acts on early glycation intermediates (hemithioacetals and aminoca [...] (189 aa) | |||
| FXYD1 | Phospholemman; Associates with and regulates the activity of the sodium/potassium-transporting ATPase (NKA) which transports Na(+) out of the cell and K(+) into the cell. Inhibits NKA activity in its unphosphorylated state and stimulates activity when phosphorylated. Reduces glutathionylation of the NKA beta-1 subunit ATP1B1, thus reversing glutathionylation-mediated inhibition of ATP1B1. Contributes to female sexual development by maintaining the excitability of neurons which secrete gonadotropin-releasing hormone (92 aa) | |||
