| http://purl.uniprot.org/citations/27493216 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27493216 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27493216 | http://www.w3.org/2000/01/rdf-schema#comment | "The dystrophin glycoprotein complex, which connects the cell membrane to the basement membrane, is essential for a variety of biological events, including maintenance of muscle integrity. An O-mannose-type GalNAc-β1,3-GlcNAc-β1,4-(phosphate-6)-Man structure of α-dystroglycan (α-DG), a subunit of the complex that is anchored to the cell membrane, interacts directly with laminin in the basement membrane. Reduced glycosylation of α-DG is linked to some types of inherited muscular dystrophy; consistent with this relationship, many disease-related mutations have been detected in genes involved in O-mannosyl glycan synthesis. Defects in protein O-linked mannose β1,2-N-acetylglucosaminyltransferase 1 (POMGnT1), a glycosyltransferase that participates in the formation of GlcNAc-β1,2-Man glycan, are causally related to muscle-eye-brain disease (MEB), a congenital muscular dystrophy, although the role of POMGnT1 in postphosphoryl modification of GalNAc-β1,3-GlcNAc-β1,4-(phosphate-6)-Man glycan remains elusive. Our crystal structures of POMGnT1 agreed with our previous results showing that the catalytic domain recognizes substrate O-mannosylated proteins via hydrophobic interactions with little sequence specificity. Unexpectedly, we found that the stem domain recognizes the β-linked GlcNAc of O-mannosyl glycan, an enzymatic product of POMGnT1. This interaction may recruit POMGnT1 to a specific site of α-DG to promote GlcNAc-β1,2-Man clustering and also may recruit other enzymes that interact with POMGnT1, e.g., fukutin, which is required for further modification of the GalNAc-β1,3-GlcNAc-β1,4-(phosphate-6)-Man glycan. On the basis of our findings, we propose a mechanism for the deficiency in postphosphoryl modification of the glycan observed in POMGnT1-KO mice and MEB patients."xsd:string |
| http://purl.uniprot.org/citations/27493216 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.1525545113"xsd:string |
| http://purl.uniprot.org/citations/27493216 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.1525545113"xsd:string |
| http://purl.uniprot.org/citations/27493216 | http://purl.uniprot.org/core/author | "Endo T."xsd:string |
| http://purl.uniprot.org/citations/27493216 | http://purl.uniprot.org/core/author | "Endo T."xsd:string |
| http://purl.uniprot.org/citations/27493216 | http://purl.uniprot.org/core/author | "Hirabayashi J."xsd:string |
| http://purl.uniprot.org/citations/27493216 | http://purl.uniprot.org/core/author | "Hirabayashi J."xsd:string |
| http://purl.uniprot.org/citations/27493216 | http://purl.uniprot.org/core/author | "Mizuno M."xsd:string |
| http://purl.uniprot.org/citations/27493216 | http://purl.uniprot.org/core/author | "Mizuno M."xsd:string |
| http://purl.uniprot.org/citations/27493216 | http://purl.uniprot.org/core/author | "Senda T."xsd:string |
| http://purl.uniprot.org/citations/27493216 | http://purl.uniprot.org/core/author | "Senda T."xsd:string |
| http://purl.uniprot.org/citations/27493216 | http://purl.uniprot.org/core/author | "Tateno H."xsd:string |
| http://purl.uniprot.org/citations/27493216 | http://purl.uniprot.org/core/author | "Tateno H."xsd:string |
| http://purl.uniprot.org/citations/27493216 | http://purl.uniprot.org/core/author | "Kato R."xsd:string |
| http://purl.uniprot.org/citations/27493216 | http://purl.uniprot.org/core/author | "Kato R."xsd:string |
| http://purl.uniprot.org/citations/27493216 | http://purl.uniprot.org/core/author | "Kobayashi K."xsd:string |
| http://purl.uniprot.org/citations/27493216 | http://purl.uniprot.org/core/author | "Kobayashi K."xsd:string |
| http://purl.uniprot.org/citations/27493216 | http://purl.uniprot.org/core/author | "Yamada T."xsd:string |
| http://purl.uniprot.org/citations/27493216 | http://purl.uniprot.org/core/author | "Yamada T."xsd:string |
| http://purl.uniprot.org/citations/27493216 | http://purl.uniprot.org/core/author | "Manya H."xsd:string |
| http://purl.uniprot.org/citations/27493216 | http://purl.uniprot.org/core/author | "Manya H."xsd:string |
| http://purl.uniprot.org/citations/27493216 | http://purl.uniprot.org/core/author | "Toda T."xsd:string |
| http://purl.uniprot.org/citations/27493216 | http://purl.uniprot.org/core/author | "Toda T."xsd:string |