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2e6q
From Proteopedia
(Difference between revisions)
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==Solution structure of the Ig-like domain (615-713) from human Obscurin-like protein 1== | ==Solution structure of the Ig-like domain (615-713) from human Obscurin-like protein 1== | ||
| - | <StructureSection load='2e6q' size='340' side='right' caption='[[2e6q]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> | + | <StructureSection load='2e6q' size='340' side='right'caption='[[2e6q]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> |
== Structural highlights == | == Structural highlights == | ||
| - | <table><tr><td colspan='2'>[[2e6q]] is a 1 chain structure with sequence from [ | + | <table><tr><td colspan='2'>[[2e6q]] 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=2E6Q OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2E6Q FirstGlance]. <br> |
| - | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">OBSL1, KIAA0657 ([ | + | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">OBSL1, KIAA0657 ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</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=2e6q FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2e6q OCA], [https://pdbe.org/2e6q PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2e6q RCSB], [https://www.ebi.ac.uk/pdbsum/2e6q PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2e6q ProSAT], [https://www.topsan.org/Proteins/RSGI/2e6q TOPSAN]</span></td></tr> |
</table> | </table> | ||
== Disease == | == Disease == | ||
| - | [[ | + | [[https://www.uniprot.org/uniprot/OBSL1_HUMAN OBSL1_HUMAN]] Defects in OBSL1 are the cause of 3M syndrome type 2 (3M2) [MIM:[https://omim.org/entry/612921 612921]]. An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies.<ref>PMID:19481195</ref> |
== Evolutionary Conservation == | == Evolutionary Conservation == | ||
[[Image:Consurf_key_small.gif|200px|right]] | [[Image:Consurf_key_small.gif|200px|right]] | ||
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</StructureSection> | </StructureSection> | ||
[[Category: Human]] | [[Category: Human]] | ||
| + | [[Category: Large Structures]] | ||
[[Category: Hayashi, F]] | [[Category: Hayashi, F]] | ||
[[Category: Qin, X R]] | [[Category: Qin, X R]] | ||
Revision as of 11:50, 10 February 2021
Solution structure of the Ig-like domain (615-713) from human Obscurin-like protein 1
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