2yxm: Difference between revisions
From Proteopedia
Jump to navigationJump to search
No edit summary |
No edit summary |
||
| Line 1: | Line 1: | ||
==Crystal structure of I-set domain of human Myosin Binding ProteinC== | |||
<StructureSection load='2yxm' size='340' side='right' caption='[[2yxm]], [[Resolution|resolution]] 1.51Å' scene=''> | |||
== Structural highlights == | |||
==Disease== | <table><tr><td colspan='2'>[[2yxm]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2YXM OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2YXM FirstGlance]. <br> | ||
[[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> | </td></tr><tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2yxm FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2yxm OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2yxm RCSB], [http://www.ebi.ac.uk/pdbsum/2yxm PDBsum], [http://www.topsan.org/Proteins/RSGI/2yxm TOPSAN]</span></td></tr> | ||
<table> | |||
==Function== | == 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> | |||
== 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. | [[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. | ||
== Evolutionary Conservation == | |||
== | [[Image:Consurf_key_small.gif|200px|right]] | ||
[[ | Check<jmol> | ||
<jmolCheckbox> | |||
== | <scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/yx/2yxm_consurf.spt"</scriptWhenChecked> | ||
<references | <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked> | ||
<text>to colour the structure by Evolutionary Conservation</text> | |||
</jmolCheckbox> | |||
</jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/chain_selection.php?pdb_ID=2ata ConSurf]. | |||
<div style="clear:both"></div> | |||
== References == | |||
<references/> | |||
__TOC__ | |||
</StructureSection> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Chen, L.]] | [[Category: Chen, L.]] | ||
