4xa1: Difference between revisions

← Older edit Newer edit →

Proteopedia Page Contributors and Editors (what is this?)Proteopedia Page Contributors and Editors (what is this?)

OCA

@@ Line 3: / Line 3: @@
 <StructureSection load='4xa1' size='340' side='right'caption='[[4xa1]], [[Resolution|resolution]] 3.20&Aring;' scene=''>
 == Structural highlights ==
-<table><tr><td colspan='2'>[[4xa1]] is a 4 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=4XA1 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4XA1 FirstGlance]. <br>
+<table><tr><td colspan='2'>[[4xa1]] is a 4 chain structure with sequence from [https://en.wikipedia.org/wiki/Bacillus_virus_phi29 Bacillus virus phi29] and [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4XA1 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4XA1 FirstGlance]. <br>
-</td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[4xa3|4xa3]], [[4xa4|4xa4]], [[4xa6|4xa6]]</td></tr>
+</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=4xa1 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4xa1 OCA], [https://pdbe.org/4xa1 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4xa1 RCSB], [https://www.ebi.ac.uk/pdbsum/4xa1 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4xa1 ProSAT]</span></td></tr>
-<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">MAPRE1 ([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=4xa1 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4xa1 OCA], [http://pdbe.org/4xa1 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=4xa1 RCSB], [http://www.ebi.ac.uk/pdbsum/4xa1 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=4xa1 ProSAT]</span></td></tr>
 </table>
+== Disease ==
+[https://www.uniprot.org/uniprot/MYH7_HUMAN MYH7_HUMAN] Defects in MYH7 are the cause of familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:[https://omim.org/entry/192600 192600]. Familial hypertrophic cardiomyopathy is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.<ref>PMID:1975517</ref> <ref>PMID:1417858</ref> <ref>PMID:1638703</ref> <ref>PMID:1552912</ref> <ref>PMID:8250038</ref> <ref>PMID:8343162</ref> <ref>PMID:8435239</ref> <ref>PMID:8268932</ref> <ref>PMID:8254035</ref> <ref>PMID:8483915</ref> <ref>PMID:7848441</ref> <ref>PMID:7874131</ref> <ref>PMID:8282798</ref> <ref>PMID:7581410</ref> <ref>PMID:7731997</ref> <ref>PMID:8655135</ref> <ref>PMID:8899546</ref> <ref>PMID:10065021</ref> <ref>PMID:9544842</ref> <ref>PMID:9829907</ref> <ref>PMID:9822100</ref> <ref>PMID:10521296</ref> <ref>PMID:10563488</ref> <ref>PMID:10329202</ref> <ref>PMID:10679957</ref> <ref>PMID:10862102</ref> <ref>PMID:11113006</ref> <ref>PMID:11214007</ref> <ref>PMID:11733062</ref> <ref>PMID:11424919</ref> <ref>PMID:11133230</ref> <ref>PMID:12081993</ref> <ref>PMID:11861413</ref> <ref>PMID:11968089</ref> <ref>PMID:12951062</ref> <ref>PMID:12566107</ref> <ref>PMID:12707239</ref> <ref>PMID:12974739</ref> <ref>PMID:12820698</ref> <ref>PMID:12975413</ref> <ref>PMID:12590187</ref> <ref>PMID:12818575</ref> <ref>PMID:15358028</ref> <ref>PMID:15563892</ref> <ref>PMID:15483641</ref> <ref>PMID:15858117</ref> <ref>PMID:16199542</ref> <ref>PMID:15856146</ref> <ref>PMID:16650083</ref> <ref>PMID:16938236</ref> <ref>PMID:17372140</ref> <ref>PMID:18403758</ref>   Defects in MYH7 are the cause of myopathy myosin storage (MYOMS) [MIM:[https://omim.org/entry/608358 608358]. In this disorder, muscle biopsy shows type 1 fiber predominance and increased interstitial fat and connective tissue. Inclusion bodies consisting of the beta cardiac myosin heavy chain are present in the majority of type 1 fibers, but not in type 2 fibers.<ref>PMID:14520662</ref> <ref>PMID:15136674</ref> <ref>PMID:17336526</ref>   Defects in MYH7 are the cause of scapuloperoneal myopathy MYH7-related (SPMM) [MIM:[https://omim.org/entry/181430 181430]; also known as scapuloperoneal syndrome myopathic type. SPMM is a progressive muscular atrophia beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm.<ref>PMID:17336526</ref>   Defects in MYH7 are a cause of cardiomyopathy dilated type 1S (CMD1S) [MIM:[https://omim.org/entry/613426 613426]. 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:11106718</ref> <ref>PMID:12379228</ref> <ref>PMID:15769782</ref> <ref>PMID:21846512</ref>   Defects in MYH7 are the cause of myopathy distal type 1 (MPD1) [MIM:[https://omim.org/entry/160500 160500]. MPD1 is a muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease.<ref>PMID:15322983</ref> <ref>PMID:17548557</ref>
+== Function ==
+[https://www.uniprot.org/uniprot/MARE1_HUMAN MARE1_HUMAN] Binds to the plus end of microtubules and regulates the dynamics of the microtubule cytoskeleton. Promotes cytoplasmic microtubule nucleation and elongation. May be involved in spindle function by stabilizing microtubules and anchoring them at centrosomes. May play a role in cell migration.<ref>PMID:12388762</ref> <ref>PMID:21646404</ref> <ref>PMID:16109370</ref> <ref>PMID:19632184</ref> [https://www.uniprot.org/uniprot/SCAF_BPPH2 SCAF_BPPH2] Scaffolding protein involved in the icosahedric procapsid assembly. Coassembles with the capsid proteins to form the procapsid, in which the scaffolding protein is found within the external shell of icosahedrally arranged capsid protein subunits. In a subsequent step the scaffolding protein molecules are released from the procapsid.<ref>PMID:17098197</ref> <ref>PMID:17198713</ref> <ref>PMID:23896641</ref> [https://www.uniprot.org/uniprot/MYH7_HUMAN MYH7_HUMAN] Muscle contraction.
 <div style="background-color:#fffaf0;">
 == Publication Abstract from PubMed ==
@@ Line 21: / Line 23: @@
 __TOC__
 </StructureSection>
-[[Category: Human]]
+[[Category: Bacillus virus phi29]]
+[[Category: Homo sapiens]]
 [[Category: Large Structures]]
-[[Category: Buvoli, A]]
+[[Category: Buvoli A]]
-[[Category: Buvoli, M]]
+[[Category: Buvoli M]]
-[[Category: Heinz, N T]]
+[[Category: Heinz NT]]
-[[Category: Korkmaz, E N]]
+[[Category: Korkmaz EN]]
-[[Category: Leinwand, L A]]
+[[Category: Leinwand LA]]
-[[Category: Qiang, C]]
+[[Category: Qiang C]]
-[[Category: Rayment, I]]
+[[Category: Rayment I]]
-[[Category: Taylor, K C]]
+[[Category: Taylor KC]]
-[[Category: Zheng, Y]]
+[[Category: Zheng Y]]
-[[Category: Cardiac]]
-[[Category: Coiled coil]]
-[[Category: Eb1]]
-[[Category: Fusion]]
-[[Category: Gp7]]
-[[Category: Motor protein]]
-[[Category: Myh7]]
-[[Category: Myosin]]
-[[Category: Skip residue]]