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[[Image:1eg3.png|left|200px]]


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==STRUCTURE OF A DYSTROPHIN WW DOMAIN FRAGMENT IN COMPLEX WITH A BETA-DYSTROGLYCAN PEPTIDE==
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<StructureSection load='1eg3' size='340' side='right'caption='[[1eg3]], [[Resolution|resolution]] 2.00&Aring;' scene=''>
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== Structural highlights ==
or the SCENE parameter (which sets the initial scene displayed when the page is loaded),
<table><tr><td colspan='2'>[[1eg3]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1EG3 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1EG3 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">X-ray diffraction, [[Resolution|Resolution]] 2&#8491;</td></tr>
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=1eg3 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1eg3 OCA], [https://pdbe.org/1eg3 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1eg3 RCSB], [https://www.ebi.ac.uk/pdbsum/1eg3 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1eg3 ProSAT]</span></td></tr>
{{STRUCTURE_1eg3| PDB=1eg3 |  SCENE= }}
</table>
== Disease ==
[https://www.uniprot.org/uniprot/DMD_HUMAN DMD_HUMAN] Defects in DMD are the cause of Duchenne muscular dystrophy (DMD) [MIM:[https://omim.org/entry/310200 310200]. DMD is the most common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment.<ref>PMID:8401582</ref> <ref>PMID:7981690</ref> <ref>PMID:8817332</ref> <ref>PMID:9851445</ref>  Defects in DMD are the cause of Becker muscular dystrophy (BMD) [MIM:[https://omim.org/entry/300376 300376]. BMD resembles DMD in hereditary and clinical features but is later in onset and more benign.<ref>PMID:10573008</ref>  Defects in DMD are a cause of cardiomyopathy dilated X-linked type 3B (CMD3B) [MIM:[https://omim.org/entry/302045 302045]; also known as X-linked dilated cardiomyopathy (XLCM). Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.<ref>PMID:9170407</ref> <ref>PMID:12354438</ref> <ref>PMID:12359139</ref>
== Function ==
[https://www.uniprot.org/uniprot/DMD_HUMAN DMD_HUMAN] Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission.<ref>PMID:16710609</ref>
== 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/1eg3_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=1eg3 ConSurf].
<div style="clear:both"></div>


===STRUCTURE OF A DYSTROPHIN WW DOMAIN FRAGMENT IN COMPLEX WITH A BETA-DYSTROGLYCAN PEPTIDE===
==See Also==
 
*[[Dystrophin|Dystrophin]]
 
== References ==
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{{ABSTRACT_PUBMED_10932245}}
 
==About this Structure==
1EG3 is a 1 chain structure of sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1EG3 OCA].
 
==Reference==
<ref group="xtra">PMID:10932245</ref><references group="xtra"/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Eck, M J.]]
[[Category: Large Structures]]
[[Category: Huang, X.]]
[[Category: Eck MJ]]
[[Category: Joachimiak, A.]]
[[Category: Huang X]]
[[Category: Poy, F.]]
[[Category: Joachimiak A]]
[[Category: Sudol, M.]]
[[Category: Poy F]]
[[Category: Zhang, R.]]
[[Category: Sudol M]]
[[Category: Ef-hand like domain]]
[[Category: Zhang R]]
[[Category: Ww domain]]
 
''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Tue Feb 17 04:14:48 2009''

Latest revision as of 10:02, 7 February 2024

STRUCTURE OF A DYSTROPHIN WW DOMAIN FRAGMENT IN COMPLEX WITH A BETA-DYSTROGLYCAN PEPTIDESTRUCTURE OF A DYSTROPHIN WW DOMAIN FRAGMENT IN COMPLEX WITH A BETA-DYSTROGLYCAN PEPTIDE

Structural highlights

1eg3 is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Method:X-ray diffraction, Resolution 2Å
Resources:FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

Disease

DMD_HUMAN Defects in DMD are the cause of Duchenne muscular dystrophy (DMD) [MIM:310200. DMD is the most common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment.[1] [2] [3] [4] Defects in DMD are the cause of Becker muscular dystrophy (BMD) [MIM:300376. BMD resembles DMD in hereditary and clinical features but is later in onset and more benign.[5] Defects in DMD are a cause of cardiomyopathy dilated X-linked type 3B (CMD3B) [MIM:302045; also known as X-linked dilated cardiomyopathy (XLCM). Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.[6] [7] [8]

Function

DMD_HUMAN Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission.[9]

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. ↑ Prior TW, Papp AC, Snyder PJ, Burghes AH, Bartolo C, Sedra MS, Western LM, Mendell JR. A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient. Nat Genet. 1993 Aug;4(4):357-60. PMID:8401582 doi:http://dx.doi.org/10.1038/ng0893-357
  2. ↑ Prior TW, Bartolo C, Papp AC, Snyder PJ, Sedra MS, Burghes AH, Mendell JR. Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16. Hum Mol Genet. 1994 Jul;3(7):1173-4. PMID:7981690
  3. ↑ Lenk U, Oexle K, Voit T, Ancker U, Hellner KA, Speer A, Hubner C. A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave. Hum Mol Genet. 1996 Jul;5(7):973-5. PMID:8817332
  4. ↑ Goldberg LR, Hausmanowa-Petrusewicz I, Fidzianska A, Duggan DJ, Steinberg LS, Hoffman EP. A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype. Ann Neurol. 1998 Dec;44(6):971-6. PMID:9851445 doi:10.1002/ana.410440619
  5. ↑ Eraslan S, Kayserili H, Apak MY, Kirdar B. Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA). Eur J Hum Genet. 1999 Oct-Nov;7(7):765-70. PMID:10573008 doi:10.1038/sj.ejhg.5200370
  6. ↑ Ortiz-Lopez R, Li H, Su J, Goytia V, Towbin JA. Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy. Circulation. 1997 May 20;95(10):2434-40. PMID:9170407
  7. ↑ Feng J, Yan JY, Buzin CH, Sommer SS, Towbin JA. Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy. J Am Coll Cardiol. 2002 Sep 18;40(6):1120-4. PMID:12354438
  8. ↑ Feng J, Yan J, Buzin CH, Towbin JA, Sommer SS. Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy. Mol Genet Metab. 2002 Sep-Oct;77(1-2):119-26. PMID:12359139
  9. ↑ Haenggi T, Fritschy JM. Role of dystrophin and utrophin for assembly and function of the dystrophin glycoprotein complex in non-muscle tissue. Cell Mol Life Sci. 2006 Jul;63(14):1614-31. PMID:16710609 doi:10.1007/s00018-005-5461-0

1eg3, resolution 2.00Å

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