2e6p: Difference between revisions
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==Solution structure of the Ig-like domain (714-804) from human Obscurin-like protein 1== | |||
<StructureSection load='2e6p' size='340' side='right'caption='[[2e6p]]' scene=''> | |||
== Structural highlights == | |||
<table><tr><td colspan='2'>[[2e6p]] 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=2E6P OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2E6P FirstGlance]. <br> | |||
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</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=2e6p FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2e6p OCA], [https://pdbe.org/2e6p PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2e6p RCSB], [https://www.ebi.ac.uk/pdbsum/2e6p PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2e6p ProSAT], [https://www.topsan.org/Proteins/RSGI/2e6p TOPSAN]</span></td></tr> | |||
</table> | |||
== 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> | |||
== Function == | |||
[https://www.uniprot.org/uniprot/OBSL1_HUMAN OBSL1_HUMAN] | |||
== 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/e6/2e6p_consurf.spt"</scriptWhenChecked> | |||
<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.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=2e6p ConSurf]. | |||
<div style="clear:both"></div> | |||
==See Also== | |||
*[[Obscurin|Obscurin]] | |||
== References == | |||
== | <references/> | ||
__TOC__ | |||
</StructureSection> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: | [[Category: Large Structures]] | ||
[[Category: Hayashi | [[Category: Hayashi F]] | ||
[[Category: Qin | [[Category: Qin XR]] | ||
[[Category: Suetake T]] | |||
[[Category: Suetake | [[Category: Yokoyama S]] | ||
[[Category: Yokoyama | |||
Latest revision as of 21:47, 29 May 2024
Solution structure of the Ig-like domain (714-804) from human Obscurin-like protein 1Solution structure of the Ig-like domain (714-804) from human Obscurin-like protein 1
Structural highlights
DiseaseOBSL1_HUMAN Defects in OBSL1 are the cause of 3M syndrome type 2 (3M2) [MIM: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.[1] FunctionEvolutionary Conservation Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf. See AlsoReferences
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