4f3j | pdb_00004f3j

Crystal Structure of Trimeric gC1q Domain of Human C1QTNF5 associated with Late-onset Retinal Macular Degeneration

spinqualitylabelsall models 4f3j, resolution 1.34Å Show:Asymmetric Unit Biological Assembly Drag the structure with the mouse to rotate   Export Animated Image   Print3D Structural highlights 4f3j is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance. Resources: FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT Disease C1QT5_HUMAN Late-onset retinal degeneration. The disease is caused by mutations affecting the gene represented in this entry. Function C1QT5_HUMAN Publication Abstract from PubMed Autosomal dominant late-onset retinal macular degeneration (L-ORMD) is caused by a single S163R mutation in the C1q and tumor necrosis factor-related protein 5 (C1QTNF5) gene. The C1QTNF5 gene encodes a secreted and membrane-associated protein involved in adhesion of retinal pigmented epithelial cells (RPE) to Bruch's membrane. The crystal structure of the trimeric globular domain of human C1QTNF5 at 1.34A resolution reveals unique features of this novel C1q family member. It lacks a Ca(2+)-binding site, displays a remarkable non-uniform distribution of surface electrostatic potentials and possesses a unique sequence (F(181)F(182)G(183)G(184)W(185)P(186)) that forms a hydrophobic plateau surrounded by Lys and Arg residues with a solvent cavity underneath. S(163) forms a hydrogen bond with F(182) in a hydrophobic area extending to the hydrophobic plateau. The pathogenic mutation S163R disrupts this hydrogen bonding and positively charges these hydrophobic areas. Thus, our analysis provides insights into the structural basis of the L-ORMD disease mechanism. Crystal structure of the globular domain of C1QTNF5: Implications for late-onset retinal macular degeneration.,Tu X, Palczewski K J Struct Biol. 2012 Aug 7. PMID:22892318 From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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