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| CD74 | HLA class II histocompatibility antigen gamma chain; Plays a critical role in MHC class II antigen processing by stabilizing peptide-free class II alpha/beta heterodimers in a complex soon after their synthesis and directing transport of the complex from the endoplasmic reticulum to the endosomal/lysosomal system where the antigen processing and binding of antigenic peptides to MHC class II takes place. Serves as cell surface receptor for the cytokine MIF; CD molecules (296 aa) | |||
| MED28 | Mediator of RNA polymerase II transcription subunit 28; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. May be part of a complex [...] (178 aa) | |||
| IREB2 | Iron-responsive element-binding protein 2; RNA-binding protein that binds to iron-responsive elements (IRES), which are stem-loop structures found in the 5’- UTR of ferritin, and delta aminolevulinic acid synthase mRNAs, and in the 3’-UTR of transferrin receptor mRNA. Binding to the IRE element in ferritin results in the repression of its mRNA translation. Binding of the protein to the transferrin receptor mRNA inhibits the degradation of this otherwise rapidly degraded mRNA; Belongs to the aconitase/IPM isomerase family (963 aa) | |||
| LUM | Lumican; Small leucine rich repeat proteoglycans; Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class II subfamily (338 aa) | |||
| GRID2 | Glutamate receptor ionotropic, delta-2; Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. Promotes synaptogenesis and mediates the D-Serine- dependent long term depression signals and AMPA receptor endocytosis of cerebellar parallel fiber-Purkinje cell (PF-PC) synapses through the beta-NRX1-CBLN1-GRID2 triad complex; Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRID2 subfamily (1007 aa) | |||
| COL14A1 | Collagen alpha-1(XIV) chain; Plays an adhesive role by integrating collagen bundles. It is probably associated with the surface of interstitial collagen fibrils via COL1. The COL2 domain may then serve as a rigid arm which sticks out from the fibril and protrudes the large N-terminal globular domain into the extracellular space, where it might interact with other matrix molecules or cell surface receptors (By similarity); Collagens (1796 aa) | |||
| TRIM68 | E3 ubiquitin-protein ligase TRIM68; Functions as a ubiquitin E3 ligase. Acts as a coactivator of androgen receptor (AR) depending on its ubiquitin ligase activity; Ring finger proteins (485 aa) | |||
| FADD | FAS-associated death domain protein; Apoptotic adaptor molecule that recruits caspase-8 or caspase-10 to the activated Fas (CD95) or TNFR-1 receptors. The resulting aggregate called the death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation. Active caspase-8 initiates the subsequent cascade of caspases mediating apoptosis. Involved in interferon-mediated antiviral immune response, playing a role in the positive regulation of interferon signaling; Death effector domain containing (208 aa) | |||
| FUT9 | Alpha-(1,3)-fucosyltransferase 9; Transfers a fucose to lacto-N-neotetraose but not to either alpha2,3-sialyl lacto-N-neotetraose or lacto-N-tetraose. Can catalyze the last step in the biosynthesis of Lewis antigen, the addition of a fucose to precursor polysaccharides; Belongs to the glycosyltransferase 10 family (359 aa) | |||
| B3GNT2 | N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2; Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Catalyzes the initiation and elongation of poly-N-acetyllactosamine chains. Shows a marked preference for Gal(beta1-4)Glc(NAc)-based acceptors. Probably constitutes the main polylactosamine synthase; Belongs to the glycosyltransferase 31 family (397 aa) | |||
| FUT3 | Galactoside 3(4)-L-fucosyltransferase; May catalyze alpha-1,3 and alpha-1,4 glycosidic linkages involved in the expression of Vim-2, Lewis A, Lewis B, sialyl Lewis X and Lewis X/SSEA-1 antigens. May be involved in blood group Lewis determination; Lewis-positive (Le(+)) individuals have an active enzyme while Lewis-negative (Le(-)) individuals have an inactive enzyme. Also acts on the corresponding 1,4-galactosyl derivative, forming 1,3-L-fucosyl links (361 aa) | |||
| ACO1 | Cytoplasmic aconitate hydratase; Iron sensor. Binds a 4Fe-4S cluster and functions as aconitase when cellular iron levels are high. Functions as mRNA binding protein that regulates uptake, sequestration and utilization of iron when cellular iron levels are low. Binds to iron-responsive elements (IRES) in target mRNA species when iron levels are low. Binding of a 4Fe-4S cluster precludes RNA binding (889 aa) | |||
| ATG16L2 | Autophagy-related protein 16-2; May play a role in autophagy (619 aa) | |||
| GRID1 | Glutamate receptor ionotropic, delta-1; Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists; Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRID1 subfamily (1009 aa) | |||
| HLA-DQA1 | Major histocompatibility complex, class II, DQ alpha 1; Belongs to the MHC class II family (255 aa) | |||
| ATP2A1 | Sarcoplasmic/endoplasmic reticulum calcium ATPase 1; Key regulator of striated muscle performance by acting as the major Ca(2+) ATPase responsible for the reuptake of cytosolic Ca(2+) into the sarcoplasmic reticulum. Catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen. Contributes to calcium sequestration involved in muscular excitation/contraction; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily (1001 aa) | |||
| METTL9 | Methyltransferase-like protein 9; Methyltransferase like 9 (318 aa) | |||
| FAM3C | Protein FAM3C; May be involved in retinal laminar formation. Promotes epithelial to mesenchymal transition (227 aa) | |||
| ISLR2 | Immunoglobulin superfamily containing leucine-rich repeat protein 2; Required for axon extension during neural development; Immunoglobulin like domain containing (745 aa) | |||
| ATG5 | Autophagy protein 5; Involved in autophagic vesicle formation. Conjugation with ATG12, through a ubiquitin-like conjugating system involving ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes. Involved in mitochondrial quality control after oxidative damage, and in subsequent cellular longevity. Plays a critical role in multiple aspects of lymphocyte development and is esse [...] (275 aa) | |||
| AMOT | Angiomotin; Plays a central role in tight junction maintenance via the complex formed with ARHGAP17, which acts by regulating the uptake of polarity proteins at tight junctions. Appears to regulate endothelial cell migration and tube formation. May also play a role in the assembly of endothelial cell-cell junctions; Belongs to the angiomotin family (1084 aa) | |||
| B3GALT6 | Beta-1,3-galactosyltransferase 6; Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-linked galactose residue. Has a preference for galactose-beta-1,4-xylose that is found in the linker region of glycosaminoglycans, such as heparan sulfate and chondroitin sulfate. Has no activity towards substrates with terminal glucosamine or galactosamine residues (329 aa) | |||
| GCNT2 | N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase; Branching enzyme that converts linear into branched poly-N-acetyllactosaminoglycans. Introduces the blood group I antigen during embryonic development. It is closely associated with the development and maturation of erythroid cells; Belongs to the glycosyltransferase 14 family (402 aa) | |||
| ATG16L1 | Autophagy-related protein 16-1; Plays an essential role in autophagy- interacts with ATG12-ATG5 to mediate the conjugation of phosphatidylethanolamine (PE) to LC3 (MAP1LC3A, MAP1LC3B or MAP1LC3C), to produce a membrane-bound activated form of LC3 named LC3-II. Thereby, controls the elongation of the nascent autophagosomal membrane. Regulates mitochondrial antiviral signaling (MAVS)-dependent type I interferon (IFN-I) production. Negatively regulates NOD1- and NOD2- driven inflammatory cytokine response. Plays a role in regulating morphology and function of Paneth cell; Belongs to the W [...] (607 aa) | |||
| ENAM | Enamelin; Involved in the mineralization and structural organization of enamel. Involved in the extension of enamel during the secretory stage of dental enamel formation (1142 aa) | |||
| TMEM79 | Transmembrane protein 79; Contributes to the epidermal integrity and skin barrier function. Plays a role in the lamellar granule (LG) secretory system and in the stratum corneum (SC) epithelial cell formation (By similarity) (394 aa) | |||
