GUCA1A Antibody

1. GCAP1 and GCAP2 bound to different regions on the target guanylate cyclase type 1 with submicromolar affinity (apparent KD-values of 663 +/- 121 nM and 231 +/- 63 nM for Ca(2+)-free GCAP1 and GCAP2, respectively). PMID: 28361875
2. Allosteric communication pathways routed by Ca(2+)/Mg(2+) exchange in GCAP1 selectively switch target regulation modes. PMID: 27739433
3. GUCA1A mutations could cause significant variability in maculopathies, including central areolar choroidal dystrophy, which represents a severe pattern of maculopathy. PMID: 28125083
4. The two novel mutations described in this study are associated with distinct phenotypes, macular dystrophy for p.Val101del and cone dystrophy for p.Asp148Glu, with no intrafamilial phenotypic heterogeneity. PMID: 28442884
5. GCAP1 mutation is associated with macular dystrophy. PMID: 28025326
6. Retinal dystrophy-associated missense mutations (L84F, I107T) in GUCA1A with distinct molecular properties result in a similar aberrant regulation of the retinal guanylate cyclase. PMID: 26358777
7. Dimerization domain of RETGC1 is an essential part of GCAP1 and GCAP2 binding interface. PMID: 26100624
8. The GCAP1 and GCAP2 binding site(s) overlaps within the kinase homology and/or dimerization domains of retinal GC1. PMID: 25616661
9. GUCA1A and GUCY2D mutations are both accompanied by similar pattern of generalized cone dysfunction with a tendency to less involvement of the rod photoreceptors and a less severe phenotype in patients with GUCA1A. PMID: 24875811
10. RetGC1 activation by GCAP1 involves establishing a tight complex through the binding patch with an additional activation step involving Met-26, Lys-85, and Trp-94. PMID: 24567338
11. All four mutant GCAP1 family members showed sensitivity or acuity losses relative to normal observers. PMID: 24557353
12. we predicted that either haploinsufficiency or dominant-negative effect accompanied by creation of a novel function for the mutant protein is a possible mechanism of the retinal degeneration due to c.250C>T and c.320T>C of the GUCA1A PMID: 24024198
13. Patients with autosomal dominant cone-rod dystrophy caused by a D100G mutation in GUCA1A exhibit progressive vision loss early within the first decade of life identifiable by distinct ERG. PMID: 24352742
14. the GUCA1A mutation only contributes to a small portion of CORD in people of Chinese descent. PMID: 23428504
15. Stimulation by GCAP increases the maximal velocity (Vmax) for retinal guanylyl cyclase activation up to 100-fold in HEK293 cell membranes. PMID: 21928830
16. The consequences of specific mutations on GCAP1 structure and GC stimulation, are described. PMID: 20238026
17. role in rescuing cone recovery kinetics in knockout mice PMID: 12732716
18. The dynamic range for recombinant photoreceptor guanylyl cyclase-1 regulation by calcium (Ca2+)/GCAP1 is determined by both the affinity of GCAP1 for Ca2+ and relative affinities of the effector enzyme for the Ca2+-free versus Ca2+-loaded GCAP1. PMID: 15504042
19. A novel GCAP1 mutation, I143NT, caused a form of autosomal dominant cone degeneration that destroys foveal cones by mid-life but spares some cones in the peripheral retina up to 75 years. PMID: 15505030
20. A novel L151F missense mutation in the EF4 high affinity Ca2+ binding site of GCAP1 is linked to adCD (autosomal dominant cone dystrophy) in a large pedigree. PMID: 15735604
21. A novel L151F mutation in the EF4 hand domain of GCAP1 is associated with autosomal dominant cone-rod dystrophy (adCORD). PMID: 15790869
22. This is the first report of this mutation also causing both cone-rod dystrophy and isolated macular dysfunction. PMID: 15953638
23. metal binding in EF-hand 2 is crucial for GCAP1 attachment to RetGC1, and in EF-hand 3 it is less critical, although it enhances the efficiency of the GCAP1 docking on the target enzyme PMID: 18541533
24. all novel mutants of GCAP1 were able to act as a Ca2+-sensor protein, they differed in their Ca2+-dependent activation profiles leading to a persistent stimulation of guanylate cyclase activities at physiological intracellular Ca2+ concentration PMID: 19459154

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HGNC: 4678

OMIM: 600364

KEGG: hsa:2978

STRING: 9606.ENSP00000053469

UniGene: Hs.92858