View source for 9pfe


==NMR structure of slow skeletal Myosin Binding Protein-C M-domain tri-helix bundle==
<StructureSection load='9pfe' size='340' side='right'caption='[[9pfe]]' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[9pfe]] 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=9PFE OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=9PFE FirstGlance]. <br>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR,  models</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=9pfe FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=9pfe OCA], [https://pdbe.org/9pfe PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=9pfe RCSB], [https://www.ebi.ac.uk/pdbsum/9pfe PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=9pfe ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/MYPC1_HUMAN MYPC1_HUMAN] Defects in MYBPC1 are the cause of arthrogryposis, distal, type 1B (DA1B) [MIM:[https://omim.org/entry/614335 614335]. A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 1 is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected.<ref>PMID:20045868</ref>   Note=Defects in MYBPC1 may be a cause of autosomal recessive lethal congenital contractural syndrome (LCCS), a severe, neonatally lethal form of arthrogryposis.<ref>PMID:22610851</ref> 
== Function ==
[https://www.uniprot.org/uniprot/MYPC1_HUMAN MYPC1_HUMAN] Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role.
== References ==
<references/>
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Iyer A]]
[[Category: Kontrogianni-Konstantopoulos A]]
[[Category: Wright NT]]