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== | ==Solution structure of the Skeletal muscle LIM-protein 1== | ||
<StructureSection load='2cup' size='340' side='right'caption='[[2cup]]' scene=''> | |||
== Structural highlights == | |||
<table><tr><td colspan='2'>[[2cup]] 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=2CUP OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2CUP 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='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ZN:ZINC+ION'>ZN</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=2cup FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2cup OCA], [https://pdbe.org/2cup PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2cup RCSB], [https://www.ebi.ac.uk/pdbsum/2cup PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2cup ProSAT], [https://www.topsan.org/Proteins/RSGI/2cup TOPSAN]</span></td></tr> | |||
</table> | |||
== Disease == | |||
[https://www.uniprot.org/uniprot/FHL1_HUMAN FHL1_HUMAN] Defects in FHL1 are the cause of X-linked dominant scapuloperoneal myopathy (SPM) [MIM:[https://omim.org/entry/300695 300695]. Scapuloperoneal syndrome (SPS) was initially described more than 120 years ago by Jules Broussard as 'une forme hereditaire d'atrophie musculaire progressive' beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm. The etiology of this condition remains unclear.<ref>PMID:18179901</ref> Defects in FHL1 are the cause of X-linked myopathy with postural muscle atrophy (XMPMA) [MIM:[https://omim.org/entry/300696 300696]. Myopathies are inherited muscle disorders characterized by weakness and atrophy of voluntary skeletal muscle, and several types of myopathy also show involvement of cardiac muscle. XMPMA is a distinct form of adult-onset X-linked recessive myopathy with several features in common with other myopathies, but the presentation of a pseudoathletic phenotype, scapuloperoneal weakness, and bent spine is unique and might render the clinical phenotype distinguishable from other myopathies.<ref>PMID:18179888</ref> Defects in FHL1 are the cause of X-linked severe early-onset reducing body myopathy (RBM) [MIM:[https://omim.org/entry/300717 300717]. RBM is a rare muscle disorder causing progressive muscular weakness and characteristic intracytoplasmic inclusions in myofibers. Clinical presentations of RBM have ranged from early onset fatal to childhood onset to adult onset cases.<ref>PMID:18274675</ref> Defects in FHL1 are the cause of X-linked childhood-onset reducing body myopathy (CO-RBM) [MIM:[https://omim.org/entry/300718 300718]. This disorder is allelic to severe early-onset reducing body myopathy (RBM) [MIM:[https://omim.org/entry/300717 300717]. | |||
== Function == | |||
[https://www.uniprot.org/uniprot/FHL1_HUMAN FHL1_HUMAN] May have an involvement in muscle development or hypertrophy. | |||
== 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/cu/2cup_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=2cup ConSurf]. | |||
<div style="clear:both"></div> | |||
== | ==See Also== | ||
*[[Muscle LIM protein|Muscle LIM protein]] | |||
== References == | |||
<references/> | |||
__TOC__ | |||
</StructureSection> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: | [[Category: Large Structures]] | ||
[[Category: Inoue | [[Category: Inoue M]] | ||
[[Category: Kigawa | [[Category: Kigawa T]] | ||
[[Category: Koshiba | [[Category: Koshiba S]] | ||
[[Category: Niraula | [[Category: Niraula TN]] | ||
[[Category: Yokoyama S]] | |||
[[Category: Yokoyama | |||
Latest revision as of 14:31, 22 May 2024
Solution structure of the Skeletal muscle LIM-protein 1Solution structure of the Skeletal muscle LIM-protein 1
Structural highlights
DiseaseFHL1_HUMAN Defects in FHL1 are the cause of X-linked dominant scapuloperoneal myopathy (SPM) [MIM:300695. Scapuloperoneal syndrome (SPS) was initially described more than 120 years ago by Jules Broussard as 'une forme hereditaire d'atrophie musculaire progressive' beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm. The etiology of this condition remains unclear.[1] Defects in FHL1 are the cause of X-linked myopathy with postural muscle atrophy (XMPMA) [MIM:300696. Myopathies are inherited muscle disorders characterized by weakness and atrophy of voluntary skeletal muscle, and several types of myopathy also show involvement of cardiac muscle. XMPMA is a distinct form of adult-onset X-linked recessive myopathy with several features in common with other myopathies, but the presentation of a pseudoathletic phenotype, scapuloperoneal weakness, and bent spine is unique and might render the clinical phenotype distinguishable from other myopathies.[2] Defects in FHL1 are the cause of X-linked severe early-onset reducing body myopathy (RBM) [MIM:300717. RBM is a rare muscle disorder causing progressive muscular weakness and characteristic intracytoplasmic inclusions in myofibers. Clinical presentations of RBM have ranged from early onset fatal to childhood onset to adult onset cases.[3] Defects in FHL1 are the cause of X-linked childhood-onset reducing body myopathy (CO-RBM) [MIM:300718. This disorder is allelic to severe early-onset reducing body myopathy (RBM) [MIM:300717. FunctionFHL1_HUMAN May have an involvement in muscle development or hypertrophy. Evolutionary 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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