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<StructureSection load='2egq' size='340' side='right' caption='[[2egq]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>
<StructureSection load='2egq' size='340' side='right' caption='[[2egq]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[2egq]] is a 1 chain structure with 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]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2EGQ FirstGlance]. <br>
<table><tr><td colspan='2'>[[2egq]] 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=2EGQ OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2EGQ 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='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=ZN:ZINC+ION'>ZN</scene></td></tr>
<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">FHL1 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">FHL1 ([http://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'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2egq FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2egq OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2egq RCSB], [http://www.ebi.ac.uk/pdbsum/2egq PDBsum], [http://www.topsan.org/Proteins/RSGI/2egq TOPSAN]</span></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=2egq FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2egq OCA], [http://pdbe.org/2egq PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2egq RCSB], [http://www.ebi.ac.uk/pdbsum/2egq PDBsum], [http://www.topsan.org/Proteins/RSGI/2egq TOPSAN]</span></td></tr>
</table>
</table>
== Disease ==
== Disease ==
[[http://www.uniprot.org/uniprot/Q6IB30_HUMAN Q6IB30_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]].  
[[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]].  
== Function ==
== Function ==
[[http://www.uniprot.org/uniprot/Q6IB30_HUMAN Q6IB30_HUMAN]] May have an involvement in muscle development or hypertrophy.  
[[http://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: Homo sapiens]]
[[Category: Human]]
[[Category: Hayashi, F]]
[[Category: Hayashi, F]]
[[Category: Inoue, K]]
[[Category: Inoue, K]]

Revision as of 13:34, 10 September 2015

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 Human. Full experimental information is available from OCA. For a guided tour on the structure components use FirstGlance.
Ligands:
Gene:FHL1 (HUMAN)
Resources:FirstGlance, OCA, PDBe, RCSB, PDBsum, 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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