[{"@context":"http:\/\/schema.org\/","@type":"BlogPosting","@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/guca1a-wikipedia\/#BlogPosting","mainEntityOfPage":"https:\/\/wiki.edu.vn\/en\/wiki24\/guca1a-wikipedia\/","headline":"GUCA1A – Wikipedia","name":"GUCA1A – Wikipedia","description":"From Wikipedia, the free encyclopedia Protein-coding gene in the species Homo sapiens LOC118142757 Identifiers Aliases GUCA1A, C6orf131, COD3, CORD14, GCAP,","datePublished":"2019-12-15","dateModified":"2019-12-15","author":{"@type":"Person","@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/author\/lordneo\/#Person","name":"lordneo","url":"https:\/\/wiki.edu.vn\/en\/wiki24\/author\/lordneo\/","image":{"@type":"ImageObject","@id":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","height":96,"width":96}},"publisher":{"@type":"Organization","name":"Enzyklop\u00e4die","logo":{"@type":"ImageObject","@id":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","url":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","width":600,"height":60}},"image":{"@type":"ImageObject","@id":"https:\/\/en.wikipedia.org\/wiki\/Special:CentralAutoLogin\/start?type=1x1","url":"https:\/\/en.wikipedia.org\/wiki\/Special:CentralAutoLogin\/start?type=1x1","height":"1","width":"1"},"url":"https:\/\/wiki.edu.vn\/en\/wiki24\/guca1a-wikipedia\/","wordCount":5102,"articleBody":"From Wikipedia, the free encyclopediaProtein-coding gene in the species Homo sapiensLOC118142757IdentifiersAliasesGUCA1A, C6orf131, COD3, CORD14, GCAP, GCAP1, GUCA, GUCA1, dJ139D8.6, guanylate cyclase activator 1A, GUCA1ANB-GUCA1A readthrough, GUCA1ANB-GUCA1AExternal IDsOMIM: 600364 MGI: 1922712 HomoloGene: 129540 GeneCards: GUCA1A WikidataGuanylyl cyclase-activating protein 1 is an enzyme that in humans is encoded by the GUCA1A gene.[4][5]References[edit]^ a b c GRCm38: Ensembl release 89: ENSMUSG00000047150 – Ensembl, May 2017^ “Human PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.^ “Mouse PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.^ Payne AM, Downes SM, Bessant DA, Taylor R, Holder GE, Warren MJ, Bird AC, Bhattacharya SS (Mar 1998). “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. 7 (2): 273\u20137. doi:10.1093\/hmg\/7.2.273. PMID\u00a09425234.^ “Entrez Gene: GUCA1A guanylate cyclase activator 1A (retina)”.Further reading[edit]Subbaraya I, Ruiz CC, Helekar BS, et\u00a0al. (1995). “Molecular characterization of human and mouse photoreceptor guanylate cyclase-activating protein (GCAP) and chromosomal localization of the human gene”. J. Biol. Chem. 269 (49): 31080\u20139. doi:10.1016\/S0021-9258(18)47393-0. PMID\u00a07983048.Surguchov A, Bronson JD, Banerjee P, et\u00a0al. (1997). “The human GCAP1 and GCAP2 genes are arranged in a tail-to-tail array on the short arm of chromosome 6 (p21.1)”. Genomics. 39 (3): 312\u201322. doi:10.1006\/geno.1996.4513. PMID\u00a09119368.Dizhoor AM, Boikov SG, Olshevskaya EV (1998). “Constitutive activation of photoreceptor guanylate cyclase by Y99C mutant of GCAP-1. Possible role in causing human autosomal dominant cone degeneration”. J. Biol. Chem. 273 (28): 17311\u20134. doi:10.1074\/jbc.273.28.17311. PMID\u00a09651312.Sokal I, Li N, Surgucheva I, et\u00a0al. (1998). “GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy”. Mol. Cell. 2 (1): 129\u201333. doi:10.1016\/S1097-2765(00)80121-5. PMID\u00a09702199.Sokal I, Li N, Verlinde CL, et\u00a0al. (2001). “Ca(2+)-binding proteins in the retina: from discovery to etiology of human disease(1)”. Biochim. Biophys. Acta. 1498 (2\u20133): 233\u201351. doi:10.1016\/S0167-4889(00)00099-9. PMID\u00a011108966.Downes SM, Holder GE, Fitzke FW, et\u00a0al. (2001). “Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1”. Arch. Ophthalmol. 119 (1): 96\u2013105. doi:10.1001\/archopht.119.11.1667. PMID\u00a011146732.Wilkie SE, Li Y, Deery EC, et\u00a0al. (2001). “Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy”. Am. J. Hum. Genet. 69 (3): 471\u201380. doi:10.1086\/323265. PMC\u00a01235478. PMID\u00a011484154.Hwang JY, Koch KW (2002). “Calcium- and myristoyl-dependent properties of guanylate cyclase-activating protein-1 and protein-2”. Biochemistry. 41 (43): 13021\u20138. doi:10.1021\/bi026618y. PMID\u00a012390029.Hwang JY, Koch KW (2002). “The myristoylation of the neuronal Ca2+ -sensors guanylate cyclase-activating protein 1 and 2”. Biochim. Biophys. Acta. 1600 (1\u20132): 111\u20137. doi:10.1016\/S1570-9639(02)00451-X. PMID\u00a012445466.Strausberg RL, Feingold EA, Grouse LH, et\u00a0al. (2003). “Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences”. Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899\u2013903. Bibcode:2002PNAS…9916899M. doi:10.1073\/pnas.242603899. PMC\u00a0139241. PMID\u00a012477932.Pennesi ME, Howes KA, Baehr W, Wu SM (2003). “Guanylate cyclase-activating protein (GCAP) 1 rescues cone recovery kinetics in GCAP1\/GCAP2 knockout mice”. Proc. Natl. Acad. Sci. U.S.A. 100 (11): 6783\u20138. Bibcode:2003PNAS..100.6783P. doi:10.1073\/pnas.1130102100. PMC\u00a0164524. PMID\u00a012732716.Mungall AJ, Palmer SA, Sims SK, et\u00a0al. (2003). “The DNA sequence and analysis of human chromosome 6”. Nature. 425 (6960): 805\u201311. Bibcode:2003Natur.425..805M. doi:10.1038\/nature02055. PMID\u00a014574404.Gerhard DS, Wagner L, Feingold EA, et\u00a0al. (2004). “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)”. Genome Res. 14 (10B): 2121\u20137. doi:10.1101\/gr.2596504. PMC\u00a0528928. PMID\u00a015489334.Peshenko IV, Moiseyev GP, Olshevskaya EV, Dizhoor AM (2004). “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 (RetGC-1)”. Biochemistry. 43 (43): 13796\u2013804. doi:10.1021\/bi048943m. PMID\u00a015504042.Nishiguchi KM, Sokal I, Yang L, et\u00a0al. (2004). “A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration”. Invest. Ophthalmol. Vis. Sci. 45 (11): 3863\u201370. doi:10.1167\/iovs.04-0590. PMC\u00a01475955. PMID\u00a015505030.Jiang L, Katz BJ, Yang Z, et\u00a0al. (2005). “Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A)”. Mol. Vis. 11: 143\u201351. PMID\u00a015735604.Sokal I, Dupps WJ, Grassi MA, et\u00a0al. (2005). “A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD)”. Invest. Ophthalmol. Vis. Sci. 46 (4): 1124\u201332. doi:10.1167\/iovs.04-1431. PMC\u00a01352313. PMID\u00a015790869.Michaelides M, Wilkie SE, Jenkins S, et\u00a0al. (2005). “Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy”. Ophthalmology. 112 (8): 1442\u20137. doi:10.1016\/j.ophtha.2005.02.024. PMID\u00a015953638. 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