2mk7: Difference between revisions

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'''Unreleased structure'''
==Tetra-O-GalNAc glycosylated mucin sequence from alpha dystroglycan mucin domain==
 
<StructureSection load='2mk7' size='340' side='right' caption='[[2mk7]], [[NMR_Ensembles_of_Models | 16 NMR models]]' scene=''>
The entry 2mk7 is ON HOLD  until Feb 04 2016
== Structural highlights ==
 
<table><tr><td colspan='2'>[[2mk7]] is a 1 chain structure. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2MK7 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2MK7 FirstGlance]. <br>
Authors: Live, D., Borgert, A.
</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=A2G:N-ACETYL-2-DEOXY-2-AMINO-GALACTOSE'>A2G</scene></td></tr>
 
<tr id='NonStdRes'><td class="sblockLbl"><b>[[Non-Standard_Residue|NonStd Res:]]</b></td><td class="sblockDat"><scene name='pdbligand=ACE:ACETYL+GROUP'>ACE</scene>, <scene name='pdbligand=NH2:AMINO+GROUP'>NH2</scene></td></tr>
Description: Tetra-O-GalNAc glycosylated mucin sequence from alpha dystroglycan mucin domain
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2mk7 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2mk7 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2mk7 RCSB], [http://www.ebi.ac.uk/pdbsum/2mk7 PDBsum]</span></td></tr>
[[Category: Unreleased Structures]]
</table>
== Disease ==
[[http://www.uniprot.org/uniprot/DAG1_HUMAN DAG1_HUMAN]] Defects in DAG1 are the cause of muscular dystrophy-dystroglycanopathy limb-girdle type C7 (MDDGC7) [MIM:[http://omim.org/entry/613818 613818]]. An autosomal recessive muscular dystrophy showing onset in early childhood, and associated with mental retardation without structural brain anomalies. Note=MDDGC7 is caused by DAG1 mutations that interfere with normal post-translational processing, resulting in defective DAG1 glycosylation and impaired interactions with extracellular-matrix components. Other muscular dystrophy-dystroglycanopathies are caused by defects in enzymes involved in protein O-glycosylation.<ref>PMID:21388311</ref> 
== Function ==
[[http://www.uniprot.org/uniprot/DAG1_HUMAN DAG1_HUMAN]] The dystroglycan complex is involved in a number of processes including laminin and basement membrane assembly, sarcolemmal stability, cell survival, peripheral nerve myelination, nodal structure, cell migration, and epithelial polarization.<ref>PMID:9851927</ref> <ref>PMID:11724572</ref> <ref>PMID:16254364</ref> <ref>PMID:17360738</ref>  Alpha-dystroglycan is an extracellular peripheral glycoprotein that acts as a receptor for both extracellular matrix proteins containing laminin-G domains, and for certain adenoviruses. Receptor for laminin-2 (LAMA2) and agrin in peripheral nerve Schwann cells. Also acts as a receptor for M.leprae in peripheral nerve Schwann cells but only in the presence of the G-domain of LAMA2, and for lymphocytic choriomeningitis virus, Old World Lassa fever virus, and clade C New World arenaviruses.<ref>PMID:9851927</ref> <ref>PMID:11724572</ref> <ref>PMID:16254364</ref> <ref>PMID:17360738</ref>  Beta-dystroglycan is a transmembrane protein that plays important roles in connecting the extracellular matrix to the cytoskeleton. Acts as a cell adhesion receptor in both muscle and non-muscle tissues. Receptor for both DMD and UTRN and, through these interactions, scaffolds axin to the cytoskeleton. Also functions in cell adhesion-mediated signaling and implicated in cell polarity.<ref>PMID:9851927</ref> <ref>PMID:11724572</ref> <ref>PMID:16254364</ref> <ref>PMID:17360738</ref> 
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Borgert, A]]
[[Category: Live, D]]
[[Category: Live, D]]
[[Category: Borgert, A]]
[[Category: Alpha-dystroglycan]]
[[Category: Glycoprotein]]
[[Category: Glycosylation]]
[[Category: Mucin domain]]
[[Category: N-acetyl-galactosamine]]
[[Category: Structural protein]]
[[Category: Tn antigen]]