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C5 | complement component 5; Activation of C5 by a C5 convertase initiates the spontaneous assembly of the late complement components, C5-C9, into the membrane attack complex. C5b has a transient binding site for C6. The C5b-C6 complex is the foundation upon which the lytic complex is assembled (1676 aa) | |||
C3 | complement component 3; C3 plays a central role in the activation of the complement system. Its processing by C3 convertase is the central reaction in both classical and alternative complement pathways. After activation C3b can bind covalently, via its reactive thioester, to cell surface carbohydrates or immune aggregates (1663 aa) | |||
LAMA5 | laminin, alpha 5; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components (3695 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) | |||
LAMC1 | laminin, gamma 1 (formerly LAMB2); Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components (1609 aa) | |||
TECTA | tectorin alpha; 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 (2155 aa) | |||
FRAS1 | Fraser syndrome 1 (4012 aa) | |||
A2ML1 | alpha-2-macroglobulin-like 1; Is able to inhibit all four classes of proteinases by a unique ’trapping’ mechanism. This protein has a peptide stretch, called the ’bait region’ which contains specific cleavage sites for different proteinases. When a proteinase cleaves the bait region, a conformational change is induced in the protein which traps the proteinase. The entrapped enzyme remains active against low molecular weight substrates (activity against high molecular weight substrates is greatly reduced). Following cleavage in the bait region a thioester bond is hydrolyzed and mediates [...] (1454 aa) | |||
USH2A | Usher syndrome 2A (autosomal recessive, mild); Involved in hearing and vision (5202 aa) | |||
GGA2 | golgi-associated, gamma adaptin ear containing, ARF binding protein 2; Plays a role in protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes. Mediates the ARF- dependent recruitment of clathrin to the TGN and binds ubiquitinated proteins and membrane cargo molecules with a cytosolic acidic cluster-dileucine (AC-LL) motif (613 aa) | |||
A2M | alpha-2-macroglobulin; Is able to inhibit all four classes of proteinases by a unique ’trapping’ mechanism. This protein has a peptide stretch, called the ’bait region’ which contains specific cleavage sites for different proteinases. When a proteinase cleaves the bait region, a conformational change is induced in the protein which traps the proteinase. The entrapped enzyme remains active against low molecular weight substrates (activity against high molecular weight substrates is greatly reduced). Following cleavage in the bait region a thioester bond is hydrolyzed and mediates the co [...] (1474 aa) | |||
LAMA3 | laminin, alpha 3; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components (3333 aa) | |||
ENSG00000179066 | Uncharacterized protein (148 aa) | |||
VWCE | von Willebrand factor C and EGF domains; May be a regulatory element in the beta-catenin signaling pathway and a target for chemoprevention of hapatocellular carcinoma (955 aa) | |||
GGA1 | golgi-associated, gamma adaptin ear containing, ARF binding protein 1 (639 aa) | |||
NTNG1 | netrin G1; Involved in controlling patterning and neuronal circuit formation at the laminar, cellular, subcellular and synaptic levels. Promotes neurite outgrowth of both axons and dendrites (539 aa) | |||
CEP68 | centrosomal protein 68kDa (757 aa) | |||
AGRN | agrin; Agrin N-terminal 110 kDa subunit- is involved in regulation of neurite outgrowth probably due to the presence of the glycosaminoglcan (GAG) side chains of heparan and chondroitin sulfate attached to the Ser/Thr- and Gly/Ser-rich regions. Also involved in modulation of growth factor signaling (By similarity) (2045 aa) | |||
LAMA1 | laminin, alpha 1; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components (3075 aa) | |||
LAMA2 | laminin, alpha 2; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components (3122 aa) | |||
OTOGL | otogelin-like (2344 aa) | |||
MUC6 | mucin 6, oligomeric mucus/gel-forming; 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 (2439 aa) | |||
MUC2 | mucin 2, oligomeric mucus/gel-forming; Coats the epithelia of the intestines, airways, and other mucus membrane-containing organs. Thought to provide a protective, lubricating barrier against particles and infectious agents at mucosal surfaces. Major constituent of both the inner and outer mucus layers of the colon and may play a role in excluding bacteria from the inner mucus layer (2817 aa) | |||
C4B | complement component 4B (Chido blood group) (1744 aa) | |||
MUC5AC | mucin 5AC, oligomeric mucus/gel-forming (623 aa) | |||
MUC5B | mucin 5B, oligomeric mucus/gel-forming (5762 aa) |