GUCA1A

Summary

Gene Symbol: GUCA1A
Description: guanylate cyclase activator 1A
Alias: C6orf131, COD3, CORD14, GCAP, GCAP1, GUCA, GUCA1, guanylyl cyclase-activating protein 1, cone dystrophy 3, guanylate cyclase-activating protein, photoreceptor 1, guanylin 1, retina
Species: human
Products:     GUCA1A

Top Publications

  1. Payne A, Downes S, Bessant D, Taylor R, Holder G, Warren M, et al. A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. Hum Mol Genet. 1998;7:273-7 pubmed
    We report a mutation (Y99C) in guanylate cyclase activator 1A (GUCA1A), the gene for guanylate cyclase activating protein (GCAP1), in a family with autosomal dominant cone dystrophy...
  2. Michaelides M, Wilkie S, Jenkins S, Holder G, Hunt D, Moore A, et al. Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy. Ophthalmology. 2005;112:1442-7 pubmed
    ..Blood samples were taken for DNA extraction, and mutation screening of GUCA1A, the gene encoding guanylate cyclase-activating protein 1 (GCAP1), was undertaken...
  3. Dizhoor A, Boikov S, Olshevskaya E. Constitutive activation of photoreceptor guanylate cyclase by Y99C mutant of GCAP-1. Possible role in causing human autosomal dominant cone degeneration. J Biol Chem. 1998;273:17311-4 pubmed
    Photoreceptor membrane guanylate cyclases (RetGC) are regulated by calcium-binding proteins, GCAP-1 and GCAP-2...
  4. Wilkie S, Li Y, Deery E, Newbold R, Garibaldi D, Bateman J, et al. Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy. Am J Hum Genet. 2001;69:471-80 pubmed
    Mutations in the gene for guanylate cyclase-activating protein-1 (GCAP1) (GUCA1A) have been associated with autosomal dominant cone dystrophy (COD3)...
  5. Sokal I, Dupps W, Grassi M, Brown J, Affatigato L, Roychowdhury N, et al. A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD). Invest Ophthalmol Vis Sci. 2005;46:1124-32 pubmed
    ..Genomic DNA was screened for mutations in GCAP1 exons using DNA sequencing and single-strand conformational polymorphism (SSCP) analysis...
  6. Jiang L, Katz B, Yang Z, Zhao Y, Faulkner N, Hu J, et al. Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A). Mol Vis. 2005;11:143-51 pubmed
    ..DHPLC mutational analysis and direct sequencing were used to identify a mutation in GUCA1A, the gene encoding the guanylate cyclase activating protein 1 (GCAP1)...
  7. Nishiguchi K, Sokal I, Yang L, Roychowdhury N, Palczewski K, Berson E, et al. A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration. Invest Ophthalmol Vis Sci. 2004;45:3863-70 pubmed
    To identify pathogenic mutations in the guanylate cyclase-activating protein 1 (GCAP1) and GCAP2 genes and to characterize the biochemical effect of mutation on guanylate cyclase (GC) stimulation...
  8. Kitiratschky V, Behnen P, Kellner U, Heckenlively J, Zrenner E, Jagle H, et al. Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase. Hum Mutat. 2009;30:E782-96 pubmed publisher
    The GUCA1A gene encodes the guanylate cyclase activating protein 1 (GCAP1) of mammalian rod and cone photoreceptor cells, which is involved in the Ca2+-dependent negative feedback regulation of membrane bound guanylate cyclases in the ..
  9. Downes S, Holder G, Fitzke F, Payne A, Warren M, Bhattacharya S, et al. Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1. Arch Ophthalmol. 2001;119:96-105 pubmed
    ..3 families with dominantly inherited cone and cone-rod dystrophy with mutations in guanylate cyclase activator 1A (GUCA1A), the gene-encoding guanylate cyclase activator protein-1 (GCAP-1)...

More Information

Publications65

  1. Makino C, Wen X, Olshevskaya E, Peshenko I, Savchenko A, Dizhoor A. Enzymatic relay mechanism stimulates cyclic GMP synthesis in rod photoresponse: biochemical and physiological study in guanylyl cyclase activating protein 1 knockout mice. PLoS ONE. 2012;7:e47637 pubmed publisher
    ..RetGC1 and RetGC2) in rod and cone photoreceptors by calcium-sensitive guanylyl cyclase activating proteins (GCAP1 and GCAP2) is one of the key molecular mechanisms affecting the response to light and is involved in congenital ..
  2. Cudia D, Ames J. Chemical shift assignments of retinal guanylyl cyclase activating protein 5 (GCAP5). Biomol NMR Assign. 2019;13:201-205 pubmed publisher
    ..RetGC) in photoreceptor rod and cone cells is regulated by a family of guanylyl cyclase activating proteins (GCAP1-7)...
  3. Gill J, Georgiou M, Kalitzeos A, Moore A, Michaelides M. Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy. Br J Ophthalmol. 2019;: pubmed publisher
    ..of cone and cone-rod dystrophies, focusing particularly on four of the most common disease-associated genes: GUCA1A, PRPH2, ABCA4 and RPGR Additionally, we briefly review the current management of these ..
  4. Yang S, Dizhoor A, Wilson D, Adamus G. GCAP1, Rab6, and HSP27: Novel Autoantibody Targets in Cancer-Associated Retinopathy and Autoimmune Retinopathy. Transl Vis Sci Technol. 2016;5:1 pubmed
    ..anti-recoverin AAbs and the remaining 105 reacted with 4 unique proteins, which were identified as a Rab6A, HSP27, GCAP1, and GCAP2...
  5. Zulliger R, Naash M, Rajala R, Molday R, Azadi S. Impaired association of retinal degeneration-3 with guanylate cyclase-1 and guanylate cyclase-activating protein-1 leads to leber congenital amaurosis-1. J Biol Chem. 2015;290:3488-99 pubmed publisher
    ..Here, we extend our studies to show a direct association between RD3 and guanylate cyclase activating protein 1 (GCAP1). Furthermore, we demonstrate that this functional interaction is important for GC1 targeting to POS...
  6. Marino V, Sulmann S, Koch K, Dell Orco D. Structural effects of Mg²⁺ on the regulatory states of three neuronal calcium sensors operating in vertebrate phototransduction. Biochim Biophys Acta. 2015;1853:2055-65 pubmed publisher
    ..physiological concentration of magnesium on the switch states of the neuronal calcium sensor proteins recoverin, GCAP1 and GCAP2 were investigated. Isothermal titration calorimetry was applied for binding studies...
  7. Duda T, Wen X, Isayama T, Sharma R, Makino C. Bicarbonate Modulates Photoreceptor Guanylate Cyclase (ROS-GC) Catalytic Activity. J Biol Chem. 2015;290:11052-60 pubmed publisher
    ..neither Ca(2+) nor use of the GCAPs domains; however, stimulation of ROS-GC1 was more powerful in the presence of GCAP1 or GCAP2 at low [Ca(2+)]...
  8. Marino V, Dell Orco D. Allosteric communication pathways routed by Ca2+/Mg2+ exchange in GCAP1 selectively switch target regulation modes. Sci Rep. 2016;6:34277 pubmed publisher
    b>GCAP1 is a neuronal calcium sensor protein that regulates the phototransduction cascade in vertebrates by switching between activator and inhibitor of the target guanylate cyclase (GC) in a Ca2+-dependent manner...
  9. Vladimirov V, Zernii E, Baksheeva V, Wimberg H, Kazakov A, Tikhomirova N, et al. Photoreceptor calcium sensor proteins in detergent-resistant membrane rafts are regulated via binding to caveolin-1. Cell Calcium. 2018;73:55-69 pubmed publisher
    ..In this study, photoreceptor Ca2+-binding proteins recoverin, NCS1, GCAP1, and GCAP2, belonging to neuronal calcium sensor (NCS) family, were recognized as novel caveolin-1 interacting ..
  10. Margetić A, Nannemann D, Meiler J, Huster D, Theisgen S. Guanylate Cyclase-Activating Protein-2 Undergoes Structural Changes upon Binding to Detergent Micelles and Bicelles. Biochim Biophys Acta. 2014;1838:2767-77 pubmed publisher
    ..The crystal-structure of GCAP-1 shows the myristoyl moiety inside the hydrophobic core of the protein, stabilizing the protein structure; but (2)..
  11. Vinberg F, Peshenko I, Chen J, Dizhoor A, Kefalov V. Guanylate cyclase-activating protein 2 contributes to phototransduction and light adaptation in mouse cone photoreceptors. J Biol Chem. 2018;293:7457-7465 pubmed publisher
    ..In mouse rod photoreceptors, GCAP1 and GCAP2 both contribute to the Ca2+-feedback mechanism...
  12. Permyakov E, Uversky V, Permyakov S. Interleukin-11: A Multifunctional Cytokine with Intrinsically Disordered Regions. Cell Biochem Biophys. 2016;74:285-96 pubmed publisher
    ..A specific subset of the calcium sensor proteins (calmodulin, S100P, S100B, NCS-1, GCAP-1/2) exhibits metal-dependent binding of IL-11 with dissociation constants in a range of 1-19 ?M, and the ..
  13. Lim S, Cudia D, Yu Q, Peshenko I, Dizhoor A, Ames J. Chemical shift assignments of retinal degeneration 3 protein (RD3). Biomol NMR Assign. 2018;12:167-170 pubmed publisher
    ..the basal activity of RetGC in photoreceptor cells that opposes the allosteric activation of the cyclase by GCAP proteins...
  14. Li C, Lim S, Braunewell K, Ames J. Structure and Calcium Binding Properties of a Neuronal Calcium-Myristoyl Switch Protein, Visinin-Like Protein 3. PLoS ONE. 2016;11:e0165921 pubmed publisher
    ..shallow protein groove, in contrast to the much deeper myristoyl binding pockets observed for recoverin, NCS-1 and GCAP1. Thus, the myristoylated VILIP-3 protein structure determined in this study is quite different from those of other ..
  15. López Begines S, Plana Bonamaisó A, Méndez A. Molecular determinants of Guanylate Cyclase Activating Protein subcellular distribution in photoreceptor cells of the retina. Sci Rep. 2018;8:2903 pubmed publisher
    ..We investigated the mechanisms governing GCAP1 and GCAP2 distribution to rod outer segments by expressing selected GCAP1 and GCAP2 mutants as transient ..
  16. Buch P, Mihelec M, Cottrill P, Wilkie S, Pearson R, Duran Y, et al. Dominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a gene. PLoS ONE. 2011;6:e18089 pubmed publisher
    b>Cone dystrophy 3 (COD3) is a severe dominantly inherited retinal degeneration caused by missense mutations in GUCA1A, the gene encoding Guanylate Cyclase Activating Protein 1 (GCAP1)...
  17. Sato S, Peshenko I, Olshevskaya E, Kefalov V, Dizhoor A. GUCY2D Cone-Rod Dystrophy-6 Is a "Phototransduction Disease" Triggered by Abnormal Calcium Feedback on Retinal Membrane Guanylyl Cyclase 1. J Neurosci. 2018;38:2990-3000 pubmed publisher
    ..photoreceptor degeneration, which typically occurred after 3 months of age in R838S RetGC1 transgenic mice in GCAP1,2+/+ or GCAP1,2+/- backgrounds, was prevented in GCAP1,2-/- ..
  18. Gross L, Schaeffer L, Alghoul F, Hayek H, Allmang C, Eriani G, et al. Tracking the m7G-cap during translation initiation by crosslinking methods. Methods. 2018;137:3-10 pubmed publisher
    ..The principle is to use the m7Gcap located at the 5' extremity of mRNAs as a tracker to monitor RNA and protein components that are in its vicinity...
  19. Lim S, Peshenko I, Olshevskaya E, Dizhoor A, Ames J. Structure of Guanylyl Cyclase Activator Protein 1 (GCAP1) Mutant V77E in a Ca2+-free/Mg2+-bound Activator State. J Biol Chem. 2016;291:4429-41 pubmed publisher
    b>GCAP1, a member of the neuronal calcium sensor subclass of the calmodulin superfamily, confers Ca(2+)-sensitive activation of retinal guanylyl cyclase 1 (RetGC1)...
  20. Vinberg F, Turunen T, Heikkinen H, Pitkänen M, Koskelainen A. A novel Ca2+-feedback mechanism extends the operating range of mammalian rods to brighter light. J Gen Physiol. 2015;146:307-21 pubmed publisher
    ..ions (Ca2+) play a major role in mediating the rapid, subsecond adaptation to light, and the Ca2+-binding proteins GCAP1 and GCAP2 (or guanylyl cyclase-activating proteins [GCAPs]) have been identified as important mediators of the ..
  21. Birtel J, Eisenberger T, Gliem M, Müller P, Herrmann P, Betz C, et al. Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy. Sci Rep. 2018;8:4824 pubmed publisher
    ..Further mutations were identified in CDHR1, GUCY2D, PROM1, CRX, GUCA1A, CERKL, MT-TL1, KIF11, RP1L1, MERTK, RDH5, CDH3, C1QTNF5, CRB1, JAG1, DRAM2, POC1B, NPHP1 and RPGR...
  22. Makino C, Duda T, Pertzev A, Sharma R. Experimental Approaches for Defining the Role of the Ca2+-Modulated ROS-GC System in Retinal Rods of Mouse. Methods Mol Biol. 2018;1753:129-158 pubmed publisher
    ..In the light, GCAP enhances ROS-GC activity...
  23. Duda T, Pertzev A, Sharma R. CO2/bicarbonate modulates cone photoreceptor ROS-GC1 and restores its CORD6-linked catalytic activity. Mol Cell Biochem. 2018;448:91-105 pubmed publisher
    ..CORD6 is caused firstly by lowered basal and GCAP1-dependent ROS-GC1 activity and secondly, by a shift in Ca2+ sensitivity of the ROS-GC1/GCAP1 complex ..
  24. Peshenko I, Olshevskaya E, Lim S, Ames J, Dizhoor A. Identification of target binding site in photoreceptor guanylyl cyclase-activating protein 1 (GCAP1). J Biol Chem. 2014;289:10140-54 pubmed publisher
    ..We mapped GCAP1 residues comprising the RetGC1 binding site by mutagenizing the entire surface of GCAP1 and testing the ability of ..
  25. Hoyo N, López Begines S, Rosa J, Chen J, Mendez A. Functional EF-hands in neuronal calcium sensor GCAP2 determine its phosphorylation state and subcellular distribution in vivo, and are essential for photoreceptor cell integrity. PLoS Genet. 2014;10:e1004480 pubmed publisher
    ..Mutations in GCAPs lead to blindness. The importance of functional EF-hands in GCAP1 for photoreceptor cell integrity has been well established...
  26. Nong E, Lee W, Merriam J, Allikmets R, Tsang S. Disease progression in autosomal dominant cone-rod dystrophy caused by a novel mutation (D100G) in the GUCA1A gene. Doc Ophthalmol. 2014;128:59-67 pubmed publisher
    ..ERG) findings in a family with cone-rod dystrophy (CRD) caused by a novel missense mutation (D100G) in the GUCA1A gene. Observational case series. Three family members 26-49 years old underwent complete clinical examinations...
  27. Sokal I, Li N, Verlinde C, Haeseleer F, Baehr W, Palczewski K. Ca(2+)-binding proteins in the retina: from discovery to etiology of human disease(1). Biochim Biophys Acta. 2000;1498:233-51 pubmed
    ..In the last 8 years, studies on guanylate cyclase (GC) regulation by three GC-activating proteins (GCAP1-3) led to several breakthroughs, among them the recent biochemical analysis of GCAP1(Y99) mutants associated with ..
  28. Hwang J, Koch K. Calcium- and myristoyl-dependent properties of guanylate cyclase-activating protein-1 and protein-2. Biochemistry. 2002;41:13021-8 pubmed
    ..b>GCAP-1 and GCAP-2 regulated ROS-GC1 activities differently...
  29. Peshenko I, Olshevskaya E, Dizhoor A. Dimerization Domain of Retinal Membrane Guanylyl Cyclase 1 (RetGC1) Is an Essential Part of Guanylyl Cyclase-activating Protein (GCAP) Binding Interface. J Biol Chem. 2015;290:19584-96 pubmed publisher
    ..Either positively or negatively charged residues in that position completely blocked GCAP1 and GCAP2 but not RD3 binding similarly to the disease-causing mutation in the neighboring Arg(822)...
  30. Marino V, Scholten A, Koch K, Dell Orco D. Two retinal dystrophy-associated missense mutations in GUCA1A with distinct molecular properties result in a similar aberrant regulation of the retinal guanylate cyclase. Hum Mol Genet. 2015;24:6653-66 pubmed publisher
    Two recently identified missense mutations (p. L84F and p. I107T) in GUCA1A, the gene coding for guanylate cyclase (GC)-activating protein 1 (GCAP1), lead to a phenotype ascribable to cone, cone-rod and macular dystrophies...
  31. Chen X, Sheng X, Zhuang W, Sun X, Liu G, Shi X, et al. GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity. Genet Med. 2017;19:945-954 pubmed publisher
    ..Zebrafish models were used to investigate the pathogenesis of GUCA1A mutations. A novel mutation, GUCA1A p...
  32. Lim S, Scholten A, Manchala G, Cudia D, Zlomke Sell S, Koch K, et al. Structural Characterization of Ferrous Ion Binding to Retinal Guanylate Cyclase Activator Protein-5 from Zebrafish Photoreceptors. Biochemistry. 2017;: pubmed publisher
    ..zGCs) in zebrafish photoreceptors are regulated by a family of guanylate cyclase activator proteins (called GCAP1-7)...
  33. Manes G, Mamouni S, Hérald E, Richard A, Sénéchal A, Aouad K, et al. Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations. Mol Vis. 2017;23:198-209 pubmed
    Sixteen different mutations in the guanylate cyclase activator 1A gene (GUCA1A), have been previously identified to cause autosomal dominant cone dystrophy (adCOD), cone-rod dystrophy (adCORD), macular dystrophy (adMD), and in an ..
  34. Song H, Rossi E, Stone E, Latchney L, Williams D, Dubra A, et al. Phenotypic diversity in autosomal-dominant cone-rod dystrophy elucidated by adaptive optics retinal imaging. Br J Ophthalmol. 2017;: pubmed publisher
    ..Here we combine genotyping with high-resolution adaptive optics retinal imaging to elucidate the retinal phenotype at a cellular level in patients with AD-CRD harbouring a defect in the GUCA1A gene.
  35. Sulmann S, Wallisch M, Scholten A, Christoffers J, Koch K. Mapping Calcium-Sensitive Regions in the Neuronal Calcium Sensor GCAP2 by Site-Specific Fluorescence Labeling. Biochemistry. 2016;55:2567-77 pubmed publisher
    ..Ca(2+) sensor GCAP2 are not well-defined but appear to be different from those of the highly homologous cognate GCAP1. We designed and applied a new group of diaminoterephthalate-derived fluorescent probes to label GCAP2 at a ..
  36. Subbaraya I, Ruiz C, Helekar B, Zhao X, Gorczyca W, Pettenati M, et al. Molecular characterization of human and mouse photoreceptor guanylate cyclase-activating protein (GCAP) and chromosomal localization of the human gene. J Biol Chem. 1994;269:31080-9 pubmed
    Guanylate cyclase-activating protein (GCAP) is a novel Ca(2+)-binding protein that stimulates synthesis of cGMP in photoreceptors...
  37. Huang L, Li S, Xiao X, Jia X, Sun W, Gao Y, et al. Novel GUCA1A mutation identified in a Chinese family with cone-rod dystrophy. Neurosci Lett. 2013;541:179-83 pubmed publisher
    Ten mutations in the guanylate cyclase activator 1A (GUCA1A) have been previously identified and reported in patients with retinal degeneration, including patients from 12 families with cone-rod dystrophy (CORD) and in an isolated patient ..
  38. Sokal I, Li N, Surgucheva I, Warren M, Payne A, Bhattacharya S, et al. GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy. Mol Cell. 1998;2:129-33 pubmed
    b>GCAP1 stimulates photoreceptor guanylate cyclase (GC) in bleached vertebrate photoreceptors when [Ca2+]free decreases but is inactivated when cytoplasmic [Ca2+]free increase after dark adaptation...
  39. Peshenko I, Olshevskaya E, Dizhoor A. Binding of guanylyl cyclase activating protein 1 (GCAP1) to retinal guanylyl cyclase (RetGC1). The role of individual EF-hands. J Biol Chem. 2008;283:21747-57 pubmed publisher
    b>Guanylyl cyclase activating protein 1 (GCAP1), after substitution of Ca(2+) by Mg(2+) in its EF-hands, stimulates photoreceptor guanylyl cyclase, RetGC1, in response to light...
  40. Sokal I, Haeseleer F, Arendt A, Adman E, Hargrave P, Palczewski K. Identification of a guanylyl cyclase-activating protein-binding site within the catalytic domain of retinal guanylyl cyclase 1. Biochemistry. 1999;38:1387-93 pubmed
    ..A free peptide,968GTFRMRHMPEVPVRIRIG, from the catalytic domain of GC1 was the strongest inhibitor of GCAP1/GCAP2-mediated activation...
  41. Surguchov A, Bronson J, Banerjee P, Knowles J, Ruiz C, Subbaraya I, et al. The human GCAP1 and GCAP2 genes are arranged in a tail-to-tail array on the short arm of chromosome 6 (p21.1). Genomics. 1997;39:312-22 pubmed
    b>GCAP1 and GCAP2 are related Ca(2+)-binding proteins that activate photoreceptor guanylate cyclase(s). We showed previously that the human GCAP1 gene, consisting of four exons, is located at 6p21.1 (locus designation GUCA)...
  42. Peshenko I, Moiseyev G, Olshevskaya E, Dizhoor A. Factors that determine Ca2+ sensitivity of photoreceptor guanylyl cyclase. Kinetic analysis of the interaction between the Ca2+-bound and the Ca2+-free guanylyl cyclase activating proteins (GCAPs) and recombinant photoreceptor guanylyl cyclase 1 (Ret. Biochemistry. 2004;43:13796-804 pubmed
    ..found in human patients with cone-rod dystrophy is known to shift the Ca(2+) sensitivity of RetGC-1 regulation by GCAP-1 to a higher Ca(2+) range...
  43. Sharon D, Wimberg H, Kinarty Y, Koch K. Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D. Prog Retin Eye Res. 2018;63:69-91 pubmed publisher
    ..cGMP from GTP, while CRD-causing mutations are functional, but shift the Ca2+-sensitivity of the GC-E - GCAP complex...
  44. Vocke F, Weisschuh N, Marino V, Malfatti S, Jacobson S, Reiff C, et al. Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1. Hum Mol Genet. 2017;26:133-144 pubmed publisher
    ..Genetic screening of patients diagnosed with macular dystrophy disclosed a novel mutation in the GUCA1A gene, namely a c.526C?>?T substitution leading to the amino acid substitution p...
  45. Huang L, Xiao X, Li S, Jia X, Wang P, Sun W, et al. Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. Exp Eye Res. 2016;146:252-8 pubmed publisher
    ..5%), ABCA4 (3.8%), ALMS1 (3.1%), GUCY2D (3.1%), CACNA1F (2.5%), CRX (1.8%), PDE6C (1.8%), CNGB3 (1.8%), GUCA1A (1.2%), UNC119 (0.6%), RPGRIP1 (1.2%), RDH12 (0.6%), KCNV2 (0.6%), C21orf2 (0.6%), CEP290 (0.6%), USH2A (0...
  46. Hwang J, Koch K. The myristoylation of the neuronal Ca2+ -sensors guanylate cyclase-activating protein 1 and 2. Biochim Biophys Acta. 2002;1600:111-7 pubmed
    ..Myristoylated forms of GCAP were produced in E. coli by coexpression of yeast N-myristoyl-transferase...
  47. Zobor D, Zrenner E, Wissinger B, Kohl S, Jagle H. GUCY2D- or GUCA1A-related autosomal dominant cone-rod dystrophy: is there a phenotypic difference?. Retina. 2014;34:1576-87 pubmed publisher
    To compare the phenotype of patients with heterozygous mutation in GUCY2D or GUCA1A causing autosomal dominant cone or cone-rod dystrophies...
  48. Stockman A, Henning G, Moore A, Webster A, Michaelides M, Ripamonti C. Visual consequences of molecular changes in the guanylate cyclase-activating protein. Invest Ophthalmol Vis Sci. 2014;55:1930-40 pubmed publisher
    ..changes in visual performance associated with a Tyr99Cys mutation in guanylate cyclase-activating protein-1 (GCAP1) in four family members aged between 39 and 55 years old...
  49. Kamenarova K, Corton M, Garcia Sandoval B, Fernandez San Jose P, Panchev V, Avila Fernandez A, et al. Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients. Biomed Res Int. 2013;2013:517570 pubmed publisher
    Here, we report two novel GUCA1A (the gene for guanylate cyclase activating protein 1) mutations identified in unrelated Spanish families affected by autosomal dominant retinal degeneration (adRD) with cone and rod involvement...
  50. Peshenko I, Olshevskaya E, Azadi S, Molday L, Molday R, Dizhoor A. Retinal degeneration 3 (RD3) protein inhibits catalytic activity of retinal membrane guanylyl cyclase (RetGC) and its stimulation by activating proteins. Biochemistry. 2011;50:9511-9 pubmed publisher
    ..It suppresses the basal activity of RetGC in the absence of GCAPs in a noncompetitive manner, and it inhibits the GCAP-stimulated RetGC at low intracellular Ca(2+) levels...
  51. Marino V, Borsatto A, Vocke F, Koch K, Dell Orco D. CaF2 nanoparticles as surface carriers of GCAP1, a calcium sensor protein involved in retinal dystrophies. Nanoscale. 2017;9:11773-11784 pubmed publisher
    ..Here we investigated the interaction of 23 nm citrate-coated CaF2 NP with a calcium sensor protein GCAP1 that is normally expressed in photoreceptor cells and involved in the regulation of the early steps of vision...
  52. Newbold R, Deery E, Walker C, Wilkie S, Srinivasan N, Hunt D, et al. The destabilization of human GCAP1 by a proline to leucine mutation might cause cone-rod dystrophy. Hum Mol Genet. 2001;10:47-54 pubmed
    Guanylate cyclase activating protein-1 (GCAP1) is required for activation of retinal guanylate cyclase-1 (RetGC1), which is essential for recovery of photoreceptor cells to the dark state...
  53. Wang M, Zhang R, Su L, Li Y, Peng M, Liu H, et al. Positive selection rather than relaxation of functional constraint drives the evolution of vision during chicken domestication. Cell Res. 2016;26:556-73 pubmed publisher
    ..particularly for genes associated with phototransduction and photoreceptor development, such as RHO (rhodopsin), GUCA1A, PDE6B and NR2E3...
  54. Peshenko I, Olshevskaya E, Dizhoor A. Evaluating the role of retinal membrane guanylyl cyclase 1 (RetGC1) domains in binding guanylyl cyclase-activating proteins (GCAPs). J Biol Chem. 2015;290:6913-24 pubmed publisher
    ..We evaluated the principal models of how GCAP1 and GCAP2 bind RetGC1: through a shared docking interface versus independent binding sites formed by distant ..
  55. Pennesi M, Howes K, Baehr W, Wu S. Guanylate cyclase-activating protein (GCAP) 1 rescues cone recovery kinetics in GCAP1/GCAP2 knockout mice. Proc Natl Acad Sci U S A. 2003;100:6783-8 pubmed
    ..When GCAP1 is expressed in transgenic mice on a GCAP null background, it restores the wild-type flash responses in rod ..
  56. Jiang L, Baehr W. GCAP1 mutations associated with autosomal dominant cone dystrophy. Adv Exp Med Biol. 2010;664:273-82 pubmed publisher
    ..As one of the best characterized adCD genes, we focus on the GUCA1A gene encoding guanylate cyclase activating protein 1 (GCAP1), a protein carrying three high affinity Ca(2+) ..