1gr3
From Proteopedia
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==Overview== | ==Overview== | ||
| - | Collagen X is expressed specifically in the growth plate of long bones. | + | Collagen X is expressed specifically in the growth plate of long bones. Its C1q-like C-terminal NC1 domain forms a stable homotrimer and is crucial for collagen X assembly. Mutations in the NC1 domain cause Schmid metaphyseal chondrodysplasia (SMCD). The crystal structure at 2.0 A resolution of the human collagen X NC1 domain reveals an intimate trimeric assembly strengthened by a buried cluster of calcium ions. Three strips of exposed aromatic residues on the surface of NC1 trimer are likely to be involved in the supramolecular assembly of collagen X. Most internal SMCD mutations probably prevent protein folding, whereas mutations of surface residues may affect the collagen X suprastructure in a dominant-negative manner. |
==Disease== | ==Disease== | ||
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[[Category: extracellular matrix]] | [[Category: extracellular matrix]] | ||
| - | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on | + | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Thu Feb 21 12:53:19 2008'' |
Revision as of 10:53, 21 February 2008
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STRUCTURE OF THE HUMAN COLLAGEN X NC1 TRIMER
Contents |
Overview
Collagen X is expressed specifically in the growth plate of long bones. Its C1q-like C-terminal NC1 domain forms a stable homotrimer and is crucial for collagen X assembly. Mutations in the NC1 domain cause Schmid metaphyseal chondrodysplasia (SMCD). The crystal structure at 2.0 A resolution of the human collagen X NC1 domain reveals an intimate trimeric assembly strengthened by a buried cluster of calcium ions. Three strips of exposed aromatic residues on the surface of NC1 trimer are likely to be involved in the supramolecular assembly of collagen X. Most internal SMCD mutations probably prevent protein folding, whereas mutations of surface residues may affect the collagen X suprastructure in a dominant-negative manner.
Disease
Known diseases associated with this structure: Metaphyseal chondrodysplasia, Schmid type OMIM:[120110], Spondylometaphyseal dysplasia, Japanese type OMIM:[120110]
About this Structure
1GR3 is a Single protein structure of sequence from Homo sapiens with , and as ligands. Known structural/functional Site: . Full crystallographic information is available from OCA.
Reference
Insight into Schmid metaphyseal chondrodysplasia from the crystal structure of the collagen X NC1 domain trimer., Bogin O, Kvansakul M, Rom E, Singer J, Yayon A, Hohenester E, Structure. 2002 Feb;10(2):165-73. PMID:11839302
Page seeded by OCA on Thu Feb 21 12:53:19 2008
Categories: Homo sapiens | Single protein | Bogin, O. | Hohenester, E. | Kvansakul, M. | Rom, E. | Singer, J. | Yayon, A. | CA | CPS | NA | Collagen | Connective tissue | Extracellular matrix
