2n6d

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==NMR structure of the 140-315 fragment of the N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits==
==NMR structure of the 140-315 fragment of the N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits==
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<StructureSection load='2n6d' size='340' side='right'caption='[[2n6d]], [[NMR_Ensembles_of_Models | 19 NMR models]]' scene=''>
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<StructureSection load='2n6d' size='340' side='right'caption='[[2n6d]]' scene=''>
== Structural highlights ==
== Structural highlights ==
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<table><tr><td colspan='2'>[[2n6d]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2N6D OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2N6D FirstGlance]. <br>
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<table><tr><td colspan='2'>[[2n6d]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2N6D OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2N6D FirstGlance]. <br>
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</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">GNPTAB, GNPTA, KIAA1208 ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
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</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=2n6d FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2n6d OCA], [https://pdbe.org/2n6d PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2n6d RCSB], [https://www.ebi.ac.uk/pdbsum/2n6d PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2n6d ProSAT]</span></td></tr>
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2n6d FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2n6d OCA], [https://pdbe.org/2n6d PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2n6d RCSB], [https://www.ebi.ac.uk/pdbsum/2n6d PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2n6d ProSAT]</span></td></tr>
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</table>
</table>
== Disease ==
== Disease ==
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[[https://www.uniprot.org/uniprot/GNPTA_HUMAN GNPTA_HUMAN]] Mucolipidosis type 2;Mucolipidosis type 3. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. Defects in GNPTAB have been suggested to play a role in susceptibility to persistent stuttering. Stuttering is a common speech disorder characterized by repetitions, prolongations, and interruptions in the flow of speech.<ref>PMID:20147709</ref>
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[https://www.uniprot.org/uniprot/GNPTA_HUMAN GNPTA_HUMAN] Mucolipidosis type 2;Mucolipidosis type 3. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. Defects in GNPTAB have been suggested to play a role in susceptibility to persistent stuttering. Stuttering is a common speech disorder characterized by repetitions, prolongations, and interruptions in the flow of speech.<ref>PMID:20147709</ref>
== Function ==
== Function ==
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[[https://www.uniprot.org/uniprot/GNPTA_HUMAN GNPTA_HUMAN]] Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular transport of lysosomal enzymes to the endosomal/prelysosomal compartment.<ref>PMID:19955174</ref> <ref>PMID:23733939</ref>
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[https://www.uniprot.org/uniprot/GNPTA_HUMAN GNPTA_HUMAN] Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular transport of lysosomal enzymes to the endosomal/prelysosomal compartment.<ref>PMID:19955174</ref> <ref>PMID:23733939</ref>
== References ==
== References ==
<references/>
<references/>
__TOC__
__TOC__
</StructureSection>
</StructureSection>
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[[Category: Human]]
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[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Large Structures]]
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[[Category: Geralt, M]]
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[[Category: Geralt M]]
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[[Category: Structural genomic]]
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[[Category: Serrano P]]
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[[Category: Serrano, P]]
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[[Category: Wuthrich K]]
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[[Category: Wuthrich, K]]
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[[Category: Jcsg]]
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[[Category: N-acetylglucosamine-1-phosphate transferase]]
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[[Category: Psi-biology]]
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[[Category: Transferase]]
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Current revision

NMR structure of the 140-315 fragment of the N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits

PDB ID 2n6d

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