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==Solution structure of the second LIM domain of skeletal muscle LIM protein 1==
==Solution structure of the second LIM domain of skeletal muscle LIM protein 1==
<StructureSection load='1x63' size='340' side='right' caption='[[1x63]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>
<StructureSection load='1x63' size='340' side='right'caption='[[1x63]]' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[1x63]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1X63 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1X63 FirstGlance]. <br>
<table><tr><td colspan='2'>[[1x63]] 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=1X63 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1X63 FirstGlance]. <br>
</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=ZN:ZINC+ION'>ZN</scene></td></tr>
</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='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">FHL1, SLIM1 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</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'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1x63 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1x63 OCA], [http://pdbe.org/1x63 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=1x63 RCSB], [http://www.ebi.ac.uk/pdbsum/1x63 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=1x63 ProSAT], [http://www.topsan.org/Proteins/RSGI/1x63 TOPSAN]</span></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=1x63 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1x63 OCA], [https://pdbe.org/1x63 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1x63 RCSB], [https://www.ebi.ac.uk/pdbsum/1x63 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1x63 ProSAT], [https://www.topsan.org/Proteins/RSGI/1x63 TOPSAN]</span></td></tr>
</table>
</table>
== Disease ==
== Disease ==
[[http://www.uniprot.org/uniprot/FHL1_HUMAN FHL1_HUMAN]] Defects in FHL1 are the cause of X-linked dominant scapuloperoneal myopathy (SPM) [MIM:[http://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:[http://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:[http://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:[http://omim.org/entry/300718 300718]]. This disorder is allelic to severe early-onset reducing body myopathy (RBM) [MIM:[http://omim.org/entry/300717 300717]].  
[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 ==
== Function ==
[[http://www.uniprot.org/uniprot/FHL1_HUMAN FHL1_HUMAN]] May have an involvement in muscle development or hypertrophy.  
[https://www.uniprot.org/uniprot/FHL1_HUMAN FHL1_HUMAN] May have an involvement in muscle development or hypertrophy.
== Evolutionary Conservation ==
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
[[Image:Consurf_key_small.gif|200px|right]]
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__TOC__
__TOC__
</StructureSection>
</StructureSection>
[[Category: Human]]
[[Category: Homo sapiens]]
[[Category: Hayashi, F]]
[[Category: Large Structures]]
[[Category: Nagashima, T]]
[[Category: Hayashi F]]
[[Category: Qin, X R]]
[[Category: Nagashima T]]
[[Category: Structural genomic]]
[[Category: Qin XR]]
[[Category: Yokoyama, S]]
[[Category: Yokoyama S]]
[[Category: Contractile protein]]
[[Category: Four and a half lim domains protein 1]]
[[Category: Lim domain]]
[[Category: National project on protein structural and functional analyse]]
[[Category: Nppsfa]]
[[Category: Rsgi]]
[[Category: Skeletal muscle lim-protein 1]]

Latest revision as of 17:01, 9 May 2024

Solution structure of the second LIM domain of skeletal muscle LIM protein 1Solution structure of the second LIM domain of skeletal muscle LIM protein 1

Structural highlights

1x63 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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