View source for 3hn3


==Human beta-glucuronidase at 1.7 A resolution==
<StructureSection load='3hn3' size='340' side='right'caption='[[3hn3]], [[Resolution|resolution]] 1.70&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[3hn3]] is a 4 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=3HN3 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3HN3 FirstGlance]. <br>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.7&#8491;</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=BMA:BETA-D-MANNOSE'>BMA</scene>, <scene name='pdbligand=GUP:ALPHA-L-GULOPYRANOSIDE'>GUP</scene>, <scene name='pdbligand=MAN:ALPHA-D-MANNOSE'>MAN</scene>, <scene name='pdbligand=MPD:(4S)-2-METHYL-2,4-PENTANEDIOL'>MPD</scene>, <scene name='pdbligand=MRD:(4R)-2-METHYLPENTANE-2,4-DIOL'>MRD</scene>, <scene name='pdbligand=NAG:N-ACETYL-D-GLUCOSAMINE'>NAG</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=3hn3 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3hn3 OCA], [https://pdbe.org/3hn3 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3hn3 RCSB], [https://www.ebi.ac.uk/pdbsum/3hn3 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3hn3 ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/BGLR_HUMAN BGLR_HUMAN] Defects in GUSB are the cause of mucopolysaccharidosis type 7 (MPS7) [MIM:[https://omim.org/entry/253220 253220]; also known as Sly syndrome. MPS7 is an autosomal recessive lysosomal storage disease characterized by inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment.<ref>PMID:8111412</ref> <ref>PMID:8111413</ref> <ref>PMID:1702266</ref> <ref>PMID:7680524</ref> <ref>PMID:8089138</ref> <ref>PMID:7573038</ref> <ref>PMID:7633414</ref> <ref>PMID:8644704</ref> <ref>PMID:8707294</ref> <ref>PMID:9099834</ref> <ref>PMID:9490302</ref> <ref>PMID:12859417</ref> <ref>PMID:12522561</ref>   Note=Mucopolysaccharidosis type 7 is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders.
== Function ==
[https://www.uniprot.org/uniprot/BGLR_HUMAN BGLR_HUMAN] Plays an important role in the degradation of dermatan and keratan sulfates.
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
Check<jmol>
  <jmolCheckbox>
    <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/hn/3hn3_consurf.spt"</scriptWhenChecked>
    <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview03.spt</scriptWhenUnchecked>
    <text>to colour the structure by Evolutionary Conservation</text>
  </jmolCheckbox>
</jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/main_output.php?pdb_ID=3hn3 ConSurf].
<div style="clear:both"></div>

==See Also==
*[[Glucuronidase|Glucuronidase]]
*[[Glucuronisidase 3D structures|Glucuronisidase 3D structures]]
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Anumula R]]
[[Category: Ghosh K]]
[[Category: Klei HE]]