Calcium binding, structural stability and guanylate cyclase activation in GCAP1 variants associated with human cone dystrophy. 2010

Daniele Dell'Orco, and Petra Behnen, and Sara Linse, and Karl-Wilhelm Koch
Institute of Biology and Environmental Sciences, University of Oldenburg, Germany.

Guanylate cyclase activating protein 1 (GCAP1) is a neuronal Ca(2+) sensor (NCS) that regulates the activation of rod outer segment guanylate cyclases (ROS-GCs) in photoreceptors. In this study, we investigated the Ca(2+)-induced effects on the conformation and the thermal stability of four GCAP1 variants associated with hereditary human cone dystrophies. Ca(2+) binding stabilized the conformation of all the GCAP1 variants independent of myristoylation. The myristoylated wild-type GCAP1 was found to have the highest Ca(2+) affinity and thermal stability, whereas all the mutants showed decreased Ca(2+) affinity and significantly lower thermal stability in both apo and Ca(2+)-loaded forms. No apparent cooperativity of Ca(2+) binding was detected for any variant. Finally, the non-myristoylated mutants were still capable of activating ROS-GC1, but the measured cyclase activity was shifted toward high, nonphysiological Ca(2+) concentrations. Thus, we conclude that distorted Ca(2+)-sensor properties could lead to cone dysfunction.

UI MeSH Term Description Entries
D008958 Models, Molecular Models used experimentally or theoretically to study molecular shape, electronic properties, or interactions; includes analogous molecules, computer-generated graphics, and mechanical structures. Molecular Models,Model, Molecular,Molecular Model
D011487 Protein Conformation The characteristic 3-dimensional shape of a protein, including the secondary, supersecondary (motifs), tertiary (domains) and quaternary structure of the peptide chain. PROTEIN STRUCTURE, QUATERNARY describes the conformation assumed by multimeric proteins (aggregates of more than one polypeptide chain). Conformation, Protein,Conformations, Protein,Protein Conformations
D002118 Calcium A basic element found in nearly all tissues. It is a member of the alkaline earth family of metals with the atomic symbol Ca, atomic number 20, and atomic weight 40. Calcium is the most abundant mineral in the body and combines with phosphorus to form calcium phosphate in the bones and teeth. It is essential for the normal functioning of nerves and muscles and plays a role in blood coagulation (as factor IV) and in many enzymatic processes. Coagulation Factor IV,Factor IV,Blood Coagulation Factor IV,Calcium-40,Calcium 40,Factor IV, Coagulation
D006162 Guanylate Cyclase An enzyme that catalyzes the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. It also acts on ITP and dGTP. (From Enzyme Nomenclature, 1992) EC 4.6.1.2. Guanyl Cyclase,Deoxyguanylate Cyclase,Guanylyl Cyclase,Inosinate Cyclase,Cyclase, Deoxyguanylate,Cyclase, Guanyl,Cyclase, Guanylate,Cyclase, Guanylyl,Cyclase, Inosinate
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001665 Binding Sites The parts of a macromolecule that directly participate in its specific combination with another molecule. Combining Site,Binding Site,Combining Sites,Site, Binding,Site, Combining,Sites, Binding,Sites, Combining
D012174 Retinitis Pigmentosa Hereditary, progressive degeneration of the retina due to death of ROD PHOTORECEPTORS initially and subsequent death of CONE PHOTORECEPTORS. It is characterized by deposition of pigment in the retina. Pigmentary Retinopathy,Tapetoretinal Degeneration,Pigmentary Retinopathies,Retinopathies, Pigmentary,Retinopathy, Pigmentary,Tapetoretinal Degenerations
D013696 Temperature The property of objects that determines the direction of heat flow when they are placed in direct thermal contact. The temperature is the energy of microscopic motions (vibrational and translational) of the particles of atoms. Temperatures
D014644 Genetic Variation Genotypic differences observed among individuals in a population. Genetic Diversity,Variation, Genetic,Diversity, Genetic,Diversities, Genetic,Genetic Diversities,Genetic Variations,Variations, Genetic
D051604 Guanylate Cyclase-Activating Proteins Neuronal calcium sensor proteins that regulate the activation of membrane-bound GUANYLATE CYCLASE. They are primarily expressed in the RETINA where they play an important role in PHOTOTRANSDUCTION. GCAP Proteins,GCAP1 Protein,GCAP2 Protein,GCAP3 Protein,Guanylate Cyclase-Activating Protein 1,Guanylate Cyclase-Activating Protein 2,Guanylate Cyclase-Activating Protein 3,Guanylyl Cyclase Activating Proteins,Guanylyl Cyclase-Activating Protein 1,Guanylyl Cyclase-Activating Protein 2,Guanylyl Cyclase-Activating Protein 3,Guanylate Cyclase Activating Protein 1,Guanylate Cyclase Activating Protein 2,Guanylate Cyclase Activating Protein 3,Guanylate Cyclase Activating Proteins,Guanylyl Cyclase Activating Protein 1,Guanylyl Cyclase Activating Protein 2,Guanylyl Cyclase Activating Protein 3

Related Publications

Daniele Dell'Orco, and Petra Behnen, and Sara Linse, and Karl-Wilhelm Koch
January 2013, PloS one,
Daniele Dell'Orco, and Petra Behnen, and Sara Linse, and Karl-Wilhelm Koch
January 2010, Advances in experimental medicine and biology,
Daniele Dell'Orco, and Petra Behnen, and Sara Linse, and Karl-Wilhelm Koch
November 2004, Investigative ophthalmology & visual science,
Daniele Dell'Orco, and Petra Behnen, and Sara Linse, and Karl-Wilhelm Koch
January 2022, Frontiers in molecular neuroscience,
Daniele Dell'Orco, and Petra Behnen, and Sara Linse, and Karl-Wilhelm Koch
January 2001, Archives of ophthalmology (Chicago, Ill. : 1960),
Daniele Dell'Orco, and Petra Behnen, and Sara Linse, and Karl-Wilhelm Koch
May 2003, Proceedings of the National Academy of Sciences of the United States of America,
Daniele Dell'Orco, and Petra Behnen, and Sara Linse, and Karl-Wilhelm Koch
November 2001, Archives of ophthalmology (Chicago, Ill. : 1960),
Daniele Dell'Orco, and Petra Behnen, and Sara Linse, and Karl-Wilhelm Koch
September 1979, Biochemical and biophysical research communications,
Daniele Dell'Orco, and Petra Behnen, and Sara Linse, and Karl-Wilhelm Koch
January 2014, Frontiers in molecular neuroscience,
Daniele Dell'Orco, and Petra Behnen, and Sara Linse, and Karl-Wilhelm Koch
January 2002, Advances in experimental medicine and biology,
Copied contents to your clipboard!