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2dav

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Revision as of 07:48, 11 September 2015

Solution structure of the first ig-like domain of Myosin-binding protein C, slow-type

Structural highlights

2dav is a 1 chain structure with sequence from Human. Full experimental information is available from OCA. For a guided tour on the structure components use FirstGlance.
Gene:	MYBPC1, MYBPCS (HUMAN)
Resources:	FirstGlance, OCA, PDBe, RCSB, PDBsum, TOPSAN

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

1 Structural highlights
2 Disease
3 Function
4 Evolutionary Conservation
5 References

Proteopedia Page Contributors and Editors (what is this?)

OCA

Retrieved from "http://52.214.119.220/wiki/index.php/2dav"

@@ Line 2: / Line 2: @@
 <StructureSection load='2dav' size='340' side='right' caption='[[2dav]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>
 == Structural highlights ==
-<table><tr><td colspan='2'>[[2dav]] is a 1 chain structure with sequence from [http://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 [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 [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>
-</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 Homo sapiens])</td></tr>
+</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>
-<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://www.rcsb.org/pdb/explore.do?structureId=2dav RCSB], [http://www.ebi.ac.uk/pdbsum/2dav PDBsum], [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'>[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://www.topsan.org/Proteins/RSGI/2dav TOPSAN]</span></td></tr>
 </table>
 == Disease ==
@@ Line 24: / Line 24: @@
 __TOC__
 </StructureSection>
-[[Category: Homo sapiens]]
+[[Category: Human]]
 [[Category: Hayashi, F]]
 [[Category: Nagashima, T]]

2dav

From Proteopedia

Revision as of 07:48, 11 September 2015

Solution structure of the first ig-like domain of Myosin-binding protein C, slow-type

Structural highlights

Disease

Function

Evolutionary Conservation

References

Contents

Proteopedia Page Contributors and Editors (what is this?)

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