7ui7
From Proteopedia
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| - | '''Unreleased structure''' | ||
| - | + | ==CryoEM structure of LARGE1 from C2 reconstruction== | |
| - | + | <StructureSection load='7ui7' size='340' side='right'caption='[[7ui7]], [[Resolution|resolution]] 3.40Å' scene=''> | |
| - | + | == Structural highlights == | |
| - | + | <table><tr><td colspan='2'>[[7ui7]] is a 2 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=7UI7 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7UI7 FirstGlance]. <br> | |
| - | + | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Electron Microscopy, [[Resolution|Resolution]] 3.4Å</td></tr> | |
| - | [[Category: | + | <tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=MN:MANGANESE+(II)+ION'>MN</scene></td></tr> |
| + | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=7ui7 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7ui7 OCA], [https://pdbe.org/7ui7 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7ui7 RCSB], [https://www.ebi.ac.uk/pdbsum/7ui7 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7ui7 ProSAT]</span></td></tr> | ||
| + | </table> | ||
| + | == Disease == | ||
| + | [https://www.uniprot.org/uniprot/LARG1_HUMAN LARG1_HUMAN] Congenital muscular dystrophy with intellectual disability;Walker-Warburg syndrome;Muscle-eye-brain disease. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. | ||
| + | == Function == | ||
| + | [https://www.uniprot.org/uniprot/LARG1_HUMAN LARG1_HUMAN] Bifunctional glycosyltransferase with both alpha-1,3-xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the maturation of alpha-dystroglycan (DAG1) by glycosylation leading to DAG1 binding to laminin G-like domain-containing extracellular proteins with high affinity (PubMed:15661757, PubMed:15752776, PubMed:21987822, PubMed:22223806, PubMed:23125099, PubMed:25279697, PubMed:25279699). Elongates the glucuronyl-beta-1,4-xylose-beta disaccharide primer structure initiated by B4GAT1 by adding repeating units [-3-Xylose-alpha-1,3-GlcA-beta-1-] to produce a heteropolysaccharide (PubMed:22223806, PubMed:23125099, PubMed:25138275, PubMed:25279697, PubMed:25279699, PubMed:32975514). Requires the phosphorylation of core M3 (O-mannosyl trisaccharide) by POMK to elongate the glucuronyl-beta-1,4-xylose-beta disaccharide primer (PubMed:21987822). Plays a key role in skeletal muscle function and regeneration (By similarity).[UniProtKB:Q9Z1M7]<ref>PMID:15661757</ref> <ref>PMID:15752776</ref> <ref>PMID:21987822</ref> <ref>PMID:22223806</ref> <ref>PMID:23125099</ref> <ref>PMID:25138275</ref> <ref>PMID:25279697</ref> <ref>PMID:25279699</ref> <ref>PMID:32975514</ref> | ||
| + | == References == | ||
| + | <references/> | ||
| + | __TOC__ | ||
| + | </StructureSection> | ||
| + | [[Category: Homo sapiens]] | ||
| + | [[Category: Large Structures]] | ||
| + | [[Category: Campbell KP]] | ||
| + | [[Category: Joseph S]] | ||
| + | [[Category: Schnicker NJ]] | ||
Current revision
CryoEM structure of LARGE1 from C2 reconstruction
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