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==Solution Structure of 3rd Fibronectin type three Domain of slow type Myosin-Binding Protein C== | ==Solution Structure of 3rd Fibronectin type three Domain of slow type Myosin-Binding Protein C== | ||
<StructureSection load='2yux' size='340' side='right'caption='[[2yux | <StructureSection load='2yux' size='340' side='right'caption='[[2yux]]' scene=''> | ||
== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[2yux]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/ | <table><tr><td colspan='2'>[[2yux]] 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=2YUX OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2YUX FirstGlance]. <br> | ||
</td></tr><tr id=' | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</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=2yux FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2yux OCA], [https://pdbe.org/2yux PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2yux RCSB], [https://www.ebi.ac.uk/pdbsum/2yux PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2yux ProSAT], [https://www.topsan.org/Proteins/RSGI/2yux TOPSAN]</span></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=2yux FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2yux OCA], [https://pdbe.org/2yux PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2yux RCSB], [https://www.ebi.ac.uk/pdbsum/2yux PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2yux ProSAT], [https://www.topsan.org/Proteins/RSGI/2yux TOPSAN]</span></td></tr> | ||
</table> | </table> | ||
== Disease == | == 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 == | == 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. | |||
== 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: | [[Category: Homo sapiens]] | ||
[[Category: Large Structures]] | [[Category: Large Structures]] | ||
[[Category: Kigawa | [[Category: Kigawa T]] | ||
[[Category: Koshiba | [[Category: Koshiba S]] | ||
[[Category: Niraula | [[Category: Niraula TN]] | ||
[[Category: Tochio N]] | |||
[[Category: Tochio | [[Category: Yokoyama S]] | ||
[[Category: Yokoyama | |||
Latest revision as of 22:19, 29 May 2024
Solution Structure of 3rd Fibronectin type three Domain of slow type Myosin-Binding Protein CSolution Structure of 3rd Fibronectin type three Domain of slow type Myosin-Binding Protein C
Structural highlights
DiseaseMYPC1_HUMAN Defects in MYBPC1 are the cause of arthrogryposis, distal, type 1B (DA1B) [MIM: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.[1] Note=Defects in MYBPC1 may be a cause of autosomal recessive lethal congenital contractural syndrome (LCCS), a severe, neonatally lethal form of arthrogryposis.[2] FunctionMYPC1_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. Evolutionary Conservation Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf. References
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