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| | <StructureSection load='4ydp' size='340' side='right'caption='[[4ydp]], [[Resolution|resolution]] 1.40Å' scene=''> | | <StructureSection load='4ydp' size='340' side='right'caption='[[4ydp]], [[Resolution|resolution]] 1.40Å' scene=''> |
| | == Structural highlights == | | == Structural highlights == |
| - | <table><tr><td colspan='2'>[[4ydp]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4YDP OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4YDP FirstGlance]. <br> | + | <table><tr><td colspan='2'>[[4ydp]] is a 2 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=4YDP OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4YDP FirstGlance]. <br> |
| - | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=GLU:GLUTAMIC+ACID'>GLU</scene>, <scene name='pdbligand=LEU:LEUCINE'>LEU</scene></td></tr> | + | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=GLU:GLUTAMIC+ACID'>GLU</scene>, <scene name='pdbligand=LEU:LEUCINE'>LEU</scene></td></tr> |
| - | <tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">LDB3, KIAA0613, ZASP ([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'>[https://proteopedia.org/fgij/fg.htm?mol=4ydp FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4ydp OCA], [https://pdbe.org/4ydp PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4ydp RCSB], [https://www.ebi.ac.uk/pdbsum/4ydp PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4ydp ProSAT]</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=4ydp FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4ydp OCA], [http://pdbe.org/4ydp PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=4ydp RCSB], [http://www.ebi.ac.uk/pdbsum/4ydp PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=4ydp ProSAT]</span></td></tr> | + | |
| | </table> | | </table> |
| | == Disease == | | == Disease == |
| - | [[http://www.uniprot.org/uniprot/LDB3_HUMAN LDB3_HUMAN]] Defects in LDB3 are the cause of cardiomyopathy dilated type 1C (CMD1C) [MIM:[http://omim.org/entry/601493 601493]]. 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:14662268</ref> <ref>PMID:14660611</ref> Defects in LDB3 are the cause of left ventricular non-compaction type 3 (LVNC3) [MIM:[http://omim.org/entry/601493 601493]]. Left ventricular non-compaction is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle. Defects in LDB3 are the cause of myopathy myofibrillar type 4 (MFM4) [MIM:[http://omim.org/entry/609452 609452]]. A neuromuscular disorder characterized by distal and proximal muscle weakness with signs of cardiomyopathy and neuropathy. | + | [https://www.uniprot.org/uniprot/LDB3_HUMAN LDB3_HUMAN] Defects in LDB3 are the cause of cardiomyopathy dilated type 1C (CMD1C) [MIM:[https://omim.org/entry/601493 601493]. 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:14662268</ref> <ref>PMID:14660611</ref> Defects in LDB3 are the cause of left ventricular non-compaction type 3 (LVNC3) [MIM:[https://omim.org/entry/601493 601493]. Left ventricular non-compaction is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle. Defects in LDB3 are the cause of myopathy myofibrillar type 4 (MFM4) [MIM:[https://omim.org/entry/609452 609452]. A neuromuscular disorder characterized by distal and proximal muscle weakness with signs of cardiomyopathy and neuropathy. |
| | == Function == | | == Function == |
| - | [[http://www.uniprot.org/uniprot/LDB3_HUMAN LDB3_HUMAN]] May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton.[:] | + | [https://www.uniprot.org/uniprot/LDB3_HUMAN LDB3_HUMAN] May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton.[:] |
| | | | |
| | ==See Also== | | ==See Also== |
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| | __TOC__ | | __TOC__ |
| | </StructureSection> | | </StructureSection> |
| - | [[Category: Human]] | + | [[Category: Homo sapiens]] |
| | [[Category: Large Structures]] | | [[Category: Large Structures]] |
| - | [[Category: Djinovic-Carugo, K]] | + | [[Category: Djinovic-Carugo K]] |
| - | [[Category: Grishkovskaya, I]] | + | [[Category: Grishkovskaya I]] |
| - | [[Category: Kontaxis, G]] | + | [[Category: Kontaxis G]] |
| - | [[Category: Onipe, A]] | + | [[Category: Onipe A]] |
| - | [[Category: Myotilin]]
| + | |
| - | [[Category: Sarcomere]]
| + | |
| - | [[Category: Striated muscle z-disc]]
| + | |
| - | [[Category: Structural protein]]
| + | |
| - | [[Category: Zasp/ldb3]]
| + | |
| Structural highlights
Disease
LDB3_HUMAN Defects in LDB3 are the cause of cardiomyopathy dilated type 1C (CMD1C) [MIM:601493. 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.[1] [2] Defects in LDB3 are the cause of left ventricular non-compaction type 3 (LVNC3) [MIM:601493. Left ventricular non-compaction is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle. Defects in LDB3 are the cause of myopathy myofibrillar type 4 (MFM4) [MIM:609452. A neuromuscular disorder characterized by distal and proximal muscle weakness with signs of cardiomyopathy and neuropathy.
Function
LDB3_HUMAN May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton.[:]
See Also
References
- ↑ Vatta M, Mohapatra B, Jimenez S, Sanchez X, Faulkner G, Perles Z, Sinagra G, Lin JH, Vu TM, Zhou Q, Bowles KR, Di Lenarda A, Schimmenti L, Fox M, Chrisco MA, Murphy RT, McKenna W, Elliott P, Bowles NE, Chen J, Valle G, Towbin JA. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J Am Coll Cardiol. 2003 Dec 3;42(11):2014-27. PMID:14662268
- ↑ Arimura T, Hayashi T, Terada H, Lee SY, Zhou Q, Takahashi M, Ueda K, Nouchi T, Hohda S, Shibutani M, Hirose M, Chen J, Park JE, Yasunami M, Hayashi H, Kimura A. A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C. J Biol Chem. 2004 Feb 20;279(8):6746-52. Epub 2003 Dec 3. PMID:14660611 doi:10.1074/jbc.M311849200
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