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{{Seed}}
[[Image:2egq.png|left|200px]]


<!--
==Solution structure of the fourth LIM domain from human four and a half LIM domains 1==
The line below this paragraph, containing "STRUCTURE_2egq", creates the "Structure Box" on the page.
<StructureSection load='2egq' size='340' side='right'caption='[[2egq]]' scene=''>
You may change the PDB parameter (which sets the PDB file loaded into the applet)  
== Structural highlights ==
or the SCENE parameter (which sets the initial scene displayed when the page is loaded),
<table><tr><td colspan='2'>[[2egq]] 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=2EGQ OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2EGQ FirstGlance]. <br>
or leave the SCENE parameter empty for the default display.
</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>
{{STRUCTURE_2egq| PDB=2egq |  SCENE= }}
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2egq FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2egq OCA], [https://pdbe.org/2egq PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2egq RCSB], [https://www.ebi.ac.uk/pdbsum/2egq PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2egq ProSAT], [https://www.topsan.org/Proteins/RSGI/2egq 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/eg/2egq_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=2egq ConSurf].
<div style="clear:both"></div>


===Solution structure of the fourth LIM domain from human four and a half LIM domains 1===
==See Also==
 
*[[Muscle LIM protein|Muscle LIM protein]]
 
== References ==
==Disease==
<references/>
Known disease associated with this structure: Hemophagocytic lymphohistiocytosis, familial OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=267700 267700]], Myopathy, X-linked, with postural muscle atrophy OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163 300163]], Myopathy, reducing body, X-linked, severe early-onset, 300717 (3), Myopathy, reducing body, X-linked, childhood-onset OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163 300163]], Scapuloperoneal myopathy, X-linked dominant OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163 300163]]
__TOC__
 
</StructureSection>
==About this Structure==
2EGQ is a [[Single protein]] structure of sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2EGQ OCA].
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Single protein]]
[[Category: Large Structures]]
[[Category: Hayashi, F.]]
[[Category: Hayashi F]]
[[Category: Inoue, K.]]
[[Category: Inoue K]]
[[Category: RSGI, RIKEN Structural Genomics/Proteomics Initiative.]]
[[Category: Yokoyama S]]
[[Category: Yokoyama, S.]]
[[Category: Fhl-1]]
[[Category: Four and a half lim domains protein 1]]
[[Category: Lim domain]]
[[Category: National project on protein structural and functional analyse]]
[[Category: Nppsfa]]
[[Category: Riken structural genomics/proteomics initiative]]
[[Category: Rsgi]]
[[Category: Skeletal muscle lim- protein 1]]
[[Category: Slim 1]]
[[Category: Structural genomic]]
[[Category: Structural protein]]
 
''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Sun Sep 28 16:19:51 2008''

Latest revision as of 21:50, 29 May 2024

Solution structure of the fourth LIM domain from human four and a half LIM domains 1Solution structure of the fourth LIM domain from human four and a half LIM domains 1

Structural highlights

2egq is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA. For a guided tour on the structure components use FirstGlance.
Method:Solution NMR
Ligands:
Resources:FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT, TOPSAN

Disease

FHL1_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.

Function

FHL1_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 Also

References

  1. ↑ Quinzii CM, Vu TH, Min KC, Tanji K, Barral S, Grewal RP, Kattah A, Camano P, Otaegui D, Kunimatsu T, Blake DM, Wilhelmsen KC, Rowland LP, Hays AP, Bonilla E, Hirano M. X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. Am J Hum Genet. 2008 Jan;82(1):208-13. PMID:18179901 doi:S0002-9297(07)00019-5
  2. ↑ Windpassinger C, Schoser B, Straub V, Hochmeister S, Noor A, Lohberger B, Farra N, Petek E, Schwarzbraun T, Ofner L, Loscher WN, Wagner K, Lochmuller H, Vincent JB, Quasthoff S. An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. Am J Hum Genet. 2008 Jan;82(1):88-99. PMID:18179888 doi:S0002-9297(07)00010-9
  3. ↑ Schessl J, Zou Y, McGrath MJ, Cowling BS, Maiti B, Chin SS, Sewry C, Battini R, Hu Y, Cottle DL, Rosenblatt M, Spruce L, Ganguly A, Kirschner J, Judkins AR, Golden JA, Goebel HH, Muntoni F, Flanigan KM, Mitchell CA, Bonnemann CG. Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. J Clin Invest. 2008 Mar;118(3):904-12. doi: 10.1172/JCI34450. PMID:18274675 doi:10.1172/JCI34450
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