4nn0 | pdb_00004nn0

Crystal structure of the C1QTNF5 globular domain in space group P63

spinqualitylabelsall models 4nn0, resolution 1.42Å Show:Asymmetric Unit Biological Assembly Drag the structure with the mouse to rotate   Export Animated Image   Print3D Structural highlights 4nn0 is a 3 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance. Method: X-ray diffraction, Resolution 1.42Å Ligands: ACT, EDO, SO4 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 The C1q-tumor necrosis factor 5 (C1QTNF5) protein plays a significant role in retinal pigmented epithelium (RPE) cellular adhesion. The C1QTNF5 gene is co-transcribed with the frizzled-related protein (MFRP) gene. A Ser-to-Arg mutation at site 163 (S163R) in C1QTNF5 is known to cause late-onset retinal macular degeneration (L-ORMD). Here we also found that C1QTNF5 monomers can multimerize into a bouquet-like octadecamer. We found that a novel intermolecular hydrogen-bond network of S163 that glues adjacent globular heads of C1QTNF5 together was weakened or abolished by the R163 pathogenic mutation. These findings could underlie the structural basis of this protein's adhesive function and relate to the pathogenesis of its S163R mutation. Additionally, the fact that C1QTNF5 immobilized to a resin selectively enriched detergent extracted membrane-bound MFRP, further confirmed their interaction, implying functions other than cellular adhesion for C1QTNF5. The macular degeneration-linked C1QTNF5 (S163) mutation causes higher-order structural rearrangements.,Tu X, Palczewski K J Struct Biol. 2014 Feb 12. pii: S1047-8477(14)00025-2. doi:, 10.1016/j.jsb.2014.02.001. PMID:24531000 From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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