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| NEFM | Neurofilament medium polypeptide; Neurofilaments usually contain three intermediate filament proteins- L, M, and H which are involved in the maintenance of neuronal caliber (916 aa) | |||
| VWF | Von Willebrand factor; Important in the maintenance of hemostasis, it promotes adhesion of platelets to the sites of vascular injury by forming a molecular bridge between sub-endothelial collagen matrix and platelet-surface receptor complex GPIb-IX-V. Also acts as a chaperone for coagulation factor VIII, delivering it to the site of injury, stabilizing its heterodimeric structure and protecting it from premature clearance from plasma; Endogenous ligands (2813 aa) | |||
| CRIM1 | Cysteine-rich motor neuron 1 protein; May play a role in CNS development by interacting with growth factors implicated in motor neuron differentiation and survival. May play a role in capillary formation and maintenance during angiogenesis. Modulates BMP activity by affecting its processing and delivery to the cell surface (1036 aa) | |||
| APP | Amyloid-beta A4 protein; N-APP binds TNFRSF21 triggering caspase activation and degeneration of both neuronal cell bodies (via caspase-3) and axons (via caspase-6); Endogenous ligands (770 aa) | |||
| BMPER | BMP-binding endothelial regulator protein; Inhibitor of bone morphogenetic protein (BMP) function, it may regulate BMP responsiveness of osteoblasts and chondrocytes (685 aa) | |||
| TSC1 | Hamartin; In complex with TSC2, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Seems not to be required for TSC2 GAP activity towards RHEB. Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling; Armadillo-like helical domain containing (1164 aa) | |||
| NEFH | Neurofilament heavy polypeptide; Neurofilaments usually contain three intermediate filament proteins- L, M, and H which are involved in the maintenance of neuronal caliber. NF-H has an important function in mature axons that is not subserved by the two smaller NF proteins (1020 aa) | |||
| FRAS1 | Fraser extracellular matrix complex subunit 1 (1976 aa) | |||
| VWCE | Von Willebrand factor C and EGF domain-containing protein; May be a regulatory element in the beta-catenin signaling pathway and a target for chemoprevention of hapatocellular carcinoma (955 aa) | |||
| PKN1 | Serine/threonine-protein kinase N1; PKC-related serine/threonine-protein kinase involved in various processes such as regulation of the intermediate filaments of the actin cytoskeleton, cell migration, tumor cell invasion and transcription regulation. Part of a signaling cascade that begins with the activation of the adrenergic receptor ADRA1B and leads to the activation of MAPK14. Regulates the cytoskeletal network by phosphorylating proteins such as VIM and neurofilament proteins NEFH, NEFL and NEFM, leading to inhibit their polymerization. Phosphorylates ’Ser-575’, ’Ser-637’ and ’Se [...] (948 aa) | |||
| MTMR2 | Myotubularin-related protein 2; Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate; Myotubularins (643 aa) | |||
| MAP2 | Microtubule-associated protein 2; The exact function of MAP2 is unknown but MAPs may stabilize the microtubules against depolymerization. They also seem to have a stiffening effect on microtubules; A-kinase anchoring proteins (1827 aa) | |||
| GRIN1 | Glutamate receptor ionotropic, NMDA 1; Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+). Sensitivity to glutamate and channel kinetics depend on the subunit composition; Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR1/GRIN1 subfamily (943 aa) | |||
| SPTAN1 | Spectrin alpha chain, non-erythrocytic 1; Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane; EF-hand domain containing (2477 aa) | |||
| NDP | Norrin; Activates the canonical Wnt signaling pathway through FZD4 and LRP5 coreceptor. Plays a central role in retinal vascularization by acting as a ligand for FZD4 that signals via stabilizing beta-catenin (CTNNB1) and activating LEF/TCF-mediated transcriptional programs. Acts in concert with TSPAN12 to activate FZD4 independently of the Wnt-dependent activation of FZD4, suggesting the existence of a Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1). May be involved in a pathway that regulates neural cell differentiation and proliferation. Possible r [...] (133 aa) | |||
| VIT | Vitrin; Promotes matrix assembly and cell adhesiveness (693 aa) | |||
| TECTA | Alpha-tectorin; One of the major non-collagenous components of the tectorial membrane (By similarity). The tectorial membrane is an extracellular matrix of the inner ear that covers the neuroepithelium of the cochlea and contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals; Deafness associated genes (2155 aa) | |||
| COCH | Cochlin; Plays a role in the control of cell shape and motility in the trabecular meshwork; Deafness associated genes (550 aa) | |||
| MYO5A | Unconventional myosin-Va; Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane. May also be required for some polarization process involved in dendrite formation; Myosins, class V (1855 aa) | |||
| OTOG | Otogelin; Glycoprotein specific to acellular membranes of the inner ear. May be required for the anchoring of the otoconial membranes and cupulae to the underlying neuroepithelia in the vestibule. May be involved in the organization and/or stabilization of the fibrillar network that compose the tectorial membrane in the cochlea. May play a role in mechanotransduction processes (By similarity) (2925 aa) | |||
| SYNC | Syncoilin; Atypical type III intermediate filament (IF) protein that may play a supportive role in the efficient coupling of mechanical stress between the myofibril and fiber exterior. May facilitate lateral force transmission during skeletal muscle contraction. Does not form homofilaments nor heterofilaments with other IF proteins (482 aa) | |||
| OTOGL | Otogelin-like protein; Otogelin like (2344 aa) | |||
| MUC6 | Mucin-6; May provide a mechanism for modulation of the composition of the protective mucus layer related to acid secretion or the presence of bacteria and noxious agents in the lumen. Plays an important role in the cytoprotection of epithelial surfaces and are used as tumor markers in a variety of cancers. May play a role in epithelial organogenesis; Mucins (2439 aa) | |||
| RABEP1 | Rab GTPase-binding effector protein 1; Rab effector protein acting as linker between gamma- adaptin, RAB4A and RAB5A. Involved in endocytic membrane fusion and membrane trafficking of recycling endosomes. Involved in KCNH1 channels trafficking to and from the cell membrane. Stimulates RABGEF1 mediated nucleotide exchange on RAB5A; Belongs to the rabaptin family (862 aa) | |||
| VIM | Vimentin; Vimentins are class-III intermediate filaments found in various non-epithelial cells, especially mesenchymal cells. Vimentin is attached to the nucleus, endoplasmic reticulum, and mitochondria, either laterally or terminally (466 aa) | |||
| NEFL | Neurofilament light polypeptide; Neurofilaments usually contain three intermediate filament proteins- L, M, and H which are involved in the maintenance of neuronal caliber (543 aa) | |||
