GUCA1A

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Guanylate cyclase activator 1A (retina)
Identifiers
Symbol(s) GUCA1A; GCAP; COD3; GCAP1; GUCA; GUCA1
External IDs OMIM: 600364 MGI: 102770 HomoloGene: 353
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 2978 14913
Ensembl ENSG00000048545 ENSMUSG00000023982
Uniprot P43080 Q8R0H3
Refseq NM_000409 (mRNA)
NP_000400 (protein)		 NM_008189 (mRNA)
NP_032215 (protein)
Location Chr 6: 42.23 - 42.26 Mb Chr 17: 46.86 - 46.86 Mb
Pubmed search [1] [2]

Guanylate cyclase activator 1A (retina), also known as GUCA1A, is a human gene.[1]


[edit] References

  1. ^ Entrez Gene: GUCA1A guanylate cyclase activator 1A (retina).

[edit] Further reading

  • Subbaraya I, Ruiz CC, Helekar BS, et al. (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): 31080–9. PMID 7983048. 
  • Surguchov A, Bronson JD, Banerjee P, et al. (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): 312–22. doi:10.1006/geno.1996.4513. PMID 9119368. 
  • Payne AM, Downes SM, Bessant DA, et al. (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): 273–7. PMID 9425234. 
  • 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): 17311–4. PMID 9651312. 
  • Sokal I, Li N, Surgucheva I, et al. (1998). "GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy.". Mol. Cell 2 (1): 129–33. PMID 9702199. 
  • Sokal I, Li N, Verlinde CL, et al. (2001). "Ca(2+)-binding proteins in the retina: from discovery to etiology of human disease(1).". Biochim. Biophys. Acta 1498 (2-3): 233–51. PMID 11108966. 
  • Downes SM, Holder GE, Fitzke FW, et al. (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): 96–105. PMID 11146732. 
  • Wilkie SE, Li Y, Deery EC, et al. (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): 471–80. PMID 11484154. 
  • Hwang JY, Koch KW (2002). "Calcium- and myristoyl-dependent properties of guanylate cyclase-activating protein-1 and protein-2.". Biochemistry 41 (43): 13021–8. PMID 12390029. 
  • Hwang JY, Koch KW (2002). "The myristoylation of the neuronal Ca2+ -sensors guanylate cyclase-activating protein 1 and 2.". Biochim. Biophys. Acta 1600 (1-2): 111–7. PMID 12445466. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (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): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • 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): 6783–8. doi:10.1073/pnas.1130102100. PMID 12732716. 
  • Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6.". Nature 425 (6960): 805–11. doi:10.1038/nature02055. PMID 14574404. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. 
  • 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): 13796–804. doi:10.1021/bi048943m. PMID 15504042. 
  • Nishiguchi KM, Sokal I, Yang L, et al. (2004). "A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration.". Invest. Ophthalmol. Vis. Sci. 45 (11): 3863–70. doi:10.1167/iovs.04-0590. PMID 15505030. 
  • Jiang L, Katz BJ, Yang Z, et al. (2005). "Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A).". Mol. Vis. 11: 143–51. PMID 15735604. 
  • Sokal I, Dupps WJ, Grassi MA, et al. (2005). "A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD).". Invest. Ophthalmol. Vis. Sci. 46 (4): 1124–32. doi:10.1167/iovs.04-1431. PMID 15790869. 
  • Michaelides M, Wilkie SE, Jenkins S, et al. (2005). "Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy.". Ophthalmology 112 (8): 1442–7. doi:10.1016/j.ophtha.2005.02.024. PMID 15953638. 
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