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| | ==Solution structure of the first ig-like domain of Myosin-binding protein C, slow-type== | | ==Solution structure of the first ig-like domain of Myosin-binding protein C, slow-type== |
| - | <StructureSection load='2dav' size='340' side='right' caption='[[2dav]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> | + | <StructureSection load='2dav' size='340' side='right'caption='[[2dav]]' scene=''> |
| | == Structural highlights == | | == Structural highlights == |
| - | <table><tr><td colspan='2'>[[2dav]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2DAV OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2DAV FirstGlance]. <br> | + | <table><tr><td colspan='2'>[[2dav]] 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=2DAV OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2DAV FirstGlance]. <br> |
| - | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">MYBPC1, MYBPCS ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr> | + | </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'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2dav FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2dav OCA], [http://pdbe.org/2dav PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2dav RCSB], [http://www.ebi.ac.uk/pdbsum/2dav PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2dav ProSAT], [http://www.topsan.org/Proteins/RSGI/2dav 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=2dav FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2dav OCA], [https://pdbe.org/2dav PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2dav RCSB], [https://www.ebi.ac.uk/pdbsum/2dav PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2dav ProSAT], [https://www.topsan.org/Proteins/RSGI/2dav TOPSAN]</span></td></tr> |
| | </table> | | </table> |
| | == Disease == | | == Disease == |
| - | [[http://www.uniprot.org/uniprot/MYPC1_HUMAN MYPC1_HUMAN]] Defects in MYBPC1 are the cause of arthrogryposis, distal, type 1B (DA1B) [MIM:[http://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> | + | [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 == |
| - | [[http://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. | + | [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: Human]] | + | [[Category: Homo sapiens]] |
| - | [[Category: Hayashi, F]] | + | [[Category: Large Structures]] |
| - | [[Category: Nagashima, T]] | + | [[Category: Hayashi F]] |
| - | [[Category: Qin, X R]] | + | [[Category: Nagashima T]] |
| - | [[Category: Structural genomic]] | + | [[Category: Qin XR]] |
| - | [[Category: Yokoyama, S]] | + | [[Category: Yokoyama S]] |
| - | [[Category: Contractile protein]]
| + | |
| - | [[Category: Ig domain]]
| + | |
| - | [[Category: Myosin-binding protein c]]
| + | |
| - | [[Category: National project on protein structural and functional analyse]]
| + | |
| - | [[Category: Nppsfa]]
| + | |
| - | [[Category: Rsgi]]
| + | |
| - | [[Category: Slow-type]]
| + | |
| - | [[Category: Structural protein]]
| + | |
| Structural highlights
Disease
MYPC1_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]
Function
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
Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.
References
- ↑ Gurnett CA, Desruisseau DM, McCall K, Choi R, Meyer ZI, Talerico M, Miller SE, Ju JS, Pestronk A, Connolly AM, Druley TE, Weihl CC, Dobbs MB. Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Hum Mol Genet. 2010 Apr 1;19(7):1165-73. doi: 10.1093/hmg/ddp587. Epub 2010 Jan, 2. PMID:20045868 doi:10.1093/hmg/ddp587
- ↑ Markus B, Narkis G, Landau D, Birk RZ, Cohen I, Birk OS. Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. Hum Mutat. 2012 Oct;33(10):1435-8. doi: 10.1002/humu.22122. Epub 2012 Jun 7. PMID:22610851 doi:10.1002/humu.22122
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