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LRP1 | low density lipoprotein receptor-related protein 1; Endocytic receptor involved in endocytosis and in phagocytosis of apoptotic cells. Required for early embryonic development. Involved in cellular lipid homeostasis. Involved in the plasma clearance of chylomicron remnants and activated LRPAP1 (alpha 2-macroglobulin), as well as the local metabolism of complexes between plasminogen activators and their endogenous inhibitors. May modulate cellular events, such as APP metabolism, kinase-dependent intracellular signaling, neuronal calcium signaling as well as neurotransmission (4544 aa) | |||
MNX1 | motor neuron and pancreas homeobox 1; Putative transcription factor involved in pancreas development and function (401 aa) | |||
LRP3 | low density lipoprotein receptor-related protein 3; Probable receptor, which may be involved in the internalization of lipophilic molecules and/or signal transduction. Its precise role is however unclear, since it does not bind to very low density lipoprotein (VLDL) or to LRPAP1 in vitro (770 aa) | |||
SORL1 | sortilin-related receptor, L(DLR class) A repeats containing; Likely to be a multifunctional endocytic receptor, that may be implicated in the uptake of lipoproteins and of proteases. Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. Binds the receptor- associated protein (RAP). Could play a role in cell-cell interaction (2214 aa) | |||
LRP2 | low density lipoprotein receptor-related protein 2; Acts together with cubilin to mediate HDL endocytosis (By similarity). May participate in regulation of parathyroid- hormone and para-thyroid-hormone-related protein release (4655 aa) | |||
NID1 | nidogen 1; Sulfated glycoprotein widely distributed in basement membranes and tightly associated with laminin. Also binds to collagen IV and perlecan. It probably has a role in cell- extracellular matrix interactions (1247 aa) | |||
TJP1 | tight junction protein 1; The N-terminal may be involved in transducing a signal required for tight junction assembly, while the C-terminal may have specific properties of tight junctions. The alpha domain might be involved in stabilizing junctions. Plays a role in the regulation of cell migration by targeting CDC42BPB to the leading edge of migrating cells (1748 aa) | |||
WDFY2 | WD repeat and FYVE domain containing 2 (400 aa) | |||
CD320 | CD320 molecule; 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 generated by IL-10. Receptor for the cellular uptake of transcobalamin bound cobalamin (282 aa) | |||
GBX2 | gastrulation brain homeobox 2; May act as a transcription factor for cell pluripotency and differentiation in the embryo (348 aa) | |||
USH2A | Usher syndrome 2A (autosomal recessive, mild); Involved in hearing and vision (5202 aa) | |||
EGFLAM | EGF-like, fibronectin type III and laminin G domains (1017 aa) | |||
DFNB31 | deafness, autosomal recessive 31 (907 aa) | |||
HSPG2 | heparan sulfate proteoglycan 2; Integral component of basement membranes. Component of the glomerular basement membrane (GBM), responsible for the fixed negative electrostatic membrane charge, and which provides a barrier which is both size- and charge-selective. It serves as an attachment substrate for cells. Plays essential roles in vascularization. Critical for normal heart development and for regulating the vascular response to injury. Also required for avascular cartilage development (4391 aa) | |||
LRP4 | low density lipoprotein receptor-related protein 4; Mediates SOST-dependent inhibition of bone formation. Functions as a specific facilitator of SOST-mediated inhibition of Wnt signaling. Plays a key role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between motor neuron and skeletal muscle. Directly binds AGRIN and recruits it to the MUSK signaling complex. Mediates the AGRIN- induced phosphorylation of MUSK, the kinase of the complex. The activation of MUSK in myotubes induces the formation of NMJ by regulating different processes including the [...] (1905 aa) | |||
NPHS1 | nephrosis 1, congenital, Finnish type (nephrin); Seems to play a role in the development or function of the kidney glomerular filtration barrier. Regulates glomerular vascular permeability. May anchor the podocyte slit diaphragm to the actin cytoskeleton. Plays a role in skeletal muscle formation through regulation of myoblast fusion (By similarity) (1241 aa) | |||
KRT18 | keratin 18; Involved in the uptake of thrombin-antithrombin complexes by hepatic cells (By similarity). When phosphorylated, plays a role in filament reorganization. Involved in the delivery of mutated CFTR to the plasma membrane. Together with KRT8, is involved in interleukin-6 (IL-6)-mediated barrier protection (430 aa) | |||
LRP1B | low density lipoprotein receptor-related protein 1B; Potential cell surface proteins that bind and internalize ligands in the process of receptor-mediated endocytosis (4599 aa) | |||
COL4A3 | collagen, type IV, alpha 3 (Goodpasture antigen) (1670 aa) | |||
LRP5L | low density lipoprotein receptor-related protein 5-like (252 aa) | |||
GPR98 | G protein-coupled receptor 98; Receptor that may have an important role in the development of the central nervous system (6306 aa) | |||
VEZT | vezatin, adherens junctions transmembrane protein; Plays a pivotal role in the establishment of adherens junctions and their maintenance in adult life. In case of Listeria infection, promotes bacterial internalization by participating in myosin VIIa recruitment to the entry site (779 aa) | |||
EYS | eyes shut homolog (Drosophila) (3144 aa) |