6i6r
From Proteopedia
(Difference between revisions)
(One intermediate revision not shown.) | |||
Line 1: | Line 1: | ||
==New Irreversible a-l-Iduronidase Inhibitors and Activity-Based Probes== | ==New Irreversible a-l-Iduronidase Inhibitors and Activity-Based Probes== | ||
- | <StructureSection load='6i6r' size='340' side='right' | + | <StructureSection load='6i6r' size='340' side='right'caption='[[6i6r]], [[Resolution|resolution]] 2.02Å' scene=''> |
== Structural highlights == | == Structural highlights == | ||
- | <table><tr><td colspan='2'>[[6i6r]] is a 2 chain structure with sequence from [ | + | <table><tr><td colspan='2'>[[6i6r]] 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=6I6R OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=6I6R FirstGlance]. <br> |
- | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=BMA:BETA-D-MANNOSE'>BMA</scene>, <scene name='pdbligand=CL:CHLORIDE+ION'>CL</scene>, <scene name='pdbligand=GOL:GLYCEROL'>GOL</scene>, <scene name='pdbligand=H62:(1~{R},2~{R},3~{R},4~{S},6~{S})-6-azanyl-2,3,4-tris(oxidanyl)cyclohexane-1-carboxylic+acid'>H62</scene>, <scene name='pdbligand=NAG:N-ACETYL-D-GLUCOSAMINE'>NAG</scene>, <scene name='pdbligand=TLA:L(+)-TARTARIC+ACID'>TLA</scene | + | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.02Å</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=CL:CHLORIDE+ION'>CL</scene>, <scene name='pdbligand=GOL:GLYCEROL'>GOL</scene>, <scene name='pdbligand=H62:(1~{R},2~{R},3~{R},4~{S},6~{S})-6-azanyl-2,3,4-tris(oxidanyl)cyclohexane-1-carboxylic+acid'>H62</scene>, <scene name='pdbligand=NAG:N-ACETYL-D-GLUCOSAMINE'>NAG</scene>, <scene name='pdbligand=TLA:L(+)-TARTARIC+ACID'>TLA</scene></td></tr> | |
- | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[ | + | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=6i6r FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6i6r OCA], [https://pdbe.org/6i6r PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=6i6r RCSB], [https://www.ebi.ac.uk/pdbsum/6i6r PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=6i6r ProSAT]</span></td></tr> |
</table> | </table> | ||
== Disease == | == Disease == | ||
- | [ | + | [https://www.uniprot.org/uniprot/IDUA_HUMAN IDUA_HUMAN] Hurler-Scheie syndrome;Hurler syndrome;Scheie syndrome. Defects in IDUA are the cause of mucopolysaccharidosis type 1H (MPS1H) [MIM:[https://omim.org/entry/607014 607014]; also known as Hurler syndrome. MPS1H is a severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe mental retardation. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age.<ref>PMID:8019563</ref> <ref>PMID:8401515</ref> <ref>PMID:8328452</ref> <ref>PMID:1301941</ref> <ref>PMID:7951228</ref> <ref>PMID:7550232</ref> <ref>PMID:7550242</ref> <ref>PMID:1946389</ref> <ref>PMID:10466419</ref> <ref>PMID:10735634</ref> <ref>PMID:12559846</ref> <ref>PMID:15300847</ref> <ref>PMID:21394825</ref> Defects in IDUA are the cause of mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:[https://omim.org/entry/607015 607015]; also known as Hurler-Scheie syndrome. MPS1H/S is a form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. Defects in IDUA are the cause of mucopolysaccharidosis type 1S (MPS1S) [MIM:[https://omim.org/entry/607016 607016]; also known as Scheie syndrome. MPS1S is a mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding. |
+ | == Function == | ||
+ | [https://www.uniprot.org/uniprot/IDUA_HUMAN IDUA_HUMAN] | ||
<div style="background-color:#fffaf0;"> | <div style="background-color:#fffaf0;"> | ||
== Publication Abstract from PubMed == | == Publication Abstract from PubMed == | ||
Line 24: | Line 26: | ||
</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
- | [[Category: | + | [[Category: Large Structures]] |
- | [[Category: Gloster | + | [[Category: Gloster TM]] |
- | [[Category: McMahon | + | [[Category: McMahon SA]] |
- | [[Category: Oehler | + | [[Category: Oehler V]] |
- | + | ||
- | + |
Current revision
New Irreversible a-l-Iduronidase Inhibitors and Activity-Based Probes
|