GUCA1A: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''Guanylyl cyclase-activating protein 1''' is an [[enzyme]] that in humans is encoded by the ''GUCA1A'' [[gene]].<ref name="pmid9425234">{{cite journal |vauthors=Payne AM, Downes SM, Bessant DA, Taylor R, Holder GE, Warren MJ, Bird AC, Bhattacharya SS | title = A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1 | journal = Hum Mol Genet | volume = 7 | issue = 2 | pages = 273–7 |date=Mar 1998 | pmid = 9425234 | pmc =  | doi =10.1093/hmg/7.2.273 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: GUCA1A guanylate cyclase activator 1A (retina)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2978| accessdate = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Guanylate cyclase activator 1A (retina)
| HGNCid = 4678
| Symbol = GUCA1A
| AltSymbols =; GCAP; COD3; GCAP1; GUCA; GUCA1
| OMIM = 600364
| ECnumber =
| Homologene = 353
| MGIid = 102770
  | GeneAtlas_image1 = PBB_GE_GUCA1A_1255_g_at_tn.png
| GeneAtlas_image2 = PBB_GE_GUCA1A_206062_at_tn.png
  | Function = {{GNF_GO|id=GO:0005509 |text = calcium ion binding}} {{GNF_GO|id=GO:0008048 |text = calcium sensitive guanylate cyclase activator activity}}
| Component =
| Process = {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007601 |text = visual perception}} {{GNF_GO|id=GO:0050896 |text = response to stimulus}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 2978
    | Hs_Ensembl = ENSG00000048545
    | Hs_RefseqProtein = NP_000400
    | Hs_RefseqmRNA = NM_000409
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 6
    | Hs_GenLoc_start = 42231152
    | Hs_GenLoc_end = 42255768
    | Hs_Uniprot = P43080
    | Mm_EntrezGene = 14913
    | Mm_Ensembl = ENSMUSG00000023982
    | Mm_RefseqmRNA = NM_008189
    | Mm_RefseqProtein = NP_032215
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 17
    | Mm_GenLoc_start = 46857749
    | Mm_GenLoc_end = 46863775
    | Mm_Uniprot = Q8R0H3
  }}
}}
'''Guanylate cyclase activator 1A (retina)''', also known as '''GUCA1A''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: GUCA1A guanylate cyclase activator 1A (retina)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2978| accessdate = }}</ref>
 
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==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal | author=Subbaraya I, Ruiz CC, Helekar BS, ''et al.'' |title=Molecular characterization of human and mouse photoreceptor guanylate cyclase-activating protein (GCAP) and chromosomal localization of the human gene. |journal=J. Biol. Chem. |volume=269 |issue= 49 |pages= 31080-9 |year= 1995 |pmid= 7983048 |doi=  }}
*{{cite journal   |vauthors=Subbaraya I, Ruiz CC, Helekar BS, etal |title=Molecular characterization of human and mouse photoreceptor guanylate cyclase-activating protein (GCAP) and chromosomal localization of the human gene. |journal=J. Biol. Chem. |volume=269 |issue= 49 |pages= 31080–9 |year= 1995 |pmid= 7983048 |doi=  }}
*{{cite journal | author=Surguchov A, Bronson JD, Banerjee P, ''et al.'' |title=The human GCAP1 and GCAP2 genes are arranged in a tail-to-tail array on the short arm of chromosome 6 (p21.1). |journal=Genomics |volume=39 |issue= 3 |pages= 312-22 |year= 1997 |pmid= 9119368 |doi= 10.1006/geno.1996.4513 }}
*{{cite journal   |vauthors=Surguchov A, Bronson JD, Banerjee P, etal |title=The human GCAP1 and GCAP2 genes are arranged in a tail-to-tail array on the short arm of chromosome 6 (p21.1). |journal=Genomics |volume=39 |issue= 3 |pages= 312–22 |year= 1997 |pmid= 9119368 |doi= 10.1006/geno.1996.4513 }}
*{{cite journal  | author=Payne AM, Downes SM, Bessant DA, ''et al.'' |title=A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. |journal=Hum. Mol. Genet. |volume=7 |issue= 2 |pages= 273-7 |year= 1998 |pmid= 9425234 |doi=  }}
*{{cite journal  |vauthors=Dizhoor AM, Boikov SG, Olshevskaya EV |title=Constitutive activation of photoreceptor guanylate cyclase by Y99C mutant of GCAP-1. Possible role in causing human autosomal dominant cone degeneration. |journal=J. Biol. Chem. |volume=273 |issue= 28 |pages= 17311–4 |year= 1998 |pmid= 9651312 |doi=10.1074/jbc.273.28.17311 }}
*{{cite journal | author=Dizhoor AM, Boikov SG, Olshevskaya EV |title=Constitutive activation of photoreceptor guanylate cyclase by Y99C mutant of GCAP-1. Possible role in causing human autosomal dominant cone degeneration. |journal=J. Biol. Chem. |volume=273 |issue= 28 |pages= 17311-4 |year= 1998 |pmid= 9651312 |doi= }}
*{{cite journal   |vauthors=Sokal I, Li N, Surgucheva I, etal |title=GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy. |journal=Mol. Cell |volume=2 |issue= 1 |pages= 129–33 |year= 1998 |pmid= 9702199 |doi=10.1016/S1097-2765(00)80121-5  }}
*{{cite journal | author=Sokal I, Li N, Surgucheva I, ''et al.'' |title=GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy. |journal=Mol. Cell |volume=2 |issue= 1 |pages= 129-33 |year= 1998 |pmid= 9702199 |doi=  }}
*{{cite journal   |vauthors=Sokal I, Li N, Verlinde CL, etal |title=Ca(2+)-binding proteins in the retina: from discovery to etiology of human disease(1). |journal=Biochim. Biophys. Acta |volume=1498 |issue= 2–3 |pages= 233–51 |year= 2001 |pmid= 11108966 |doi=  10.1016/S0167-4889(00)00099-9}}
*{{cite journal | author=Sokal I, Li N, Verlinde CL, ''et al.'' |title=Ca(2+)-binding proteins in the retina: from discovery to etiology of human disease(1). |journal=Biochim. Biophys. Acta |volume=1498 |issue= 2-3 |pages= 233-51 |year= 2001 |pmid= 11108966 |doi=  }}
*{{cite journal   |vauthors=Downes SM, Holder GE, Fitzke FW, etal |title=Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1 |journal=Arch. Ophthalmol. |volume=119 |issue= 1 |pages= 96–105 |year= 2001 |pmid= 11146732 |doi=  10.1001/archopht.119.11.1667}}
*{{cite journal | author=Downes SM, Holder GE, Fitzke FW, ''et al.'' |title=Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1. |journal=Arch. Ophthalmol. |volume=119 |issue= 1 |pages= 96-105 |year= 2001 |pmid= 11146732 |doi=  }}
*{{cite journal   |vauthors=Wilkie SE, Li Y, Deery EC, etal |title=Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy |journal=Am. J. Hum. Genet. |volume=69 |issue= 3 |pages= 471–80 |year= 2001 |pmid= 11484154 |doi=10.1086/323265  | pmc=1235478 }}
*{{cite journal  | author=Wilkie SE, Li Y, Deery EC, ''et al.'' |title=Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy. |journal=Am. J. Hum. Genet. |volume=69 |issue= 3 |pages= 471-80 |year= 2001 |pmid= 11484154 |doi=  }}
*{{cite journal  |vauthors=Hwang JY, Koch KW |title=Calcium- and myristoyl-dependent properties of guanylate cyclase-activating protein-1 and protein-2 |journal=Biochemistry |volume=41 |issue= 43 |pages= 13021–8 |year= 2002 |pmid= 12390029 |doi=10.1021/bi026618y }}
*{{cite journal  | author=Hwang JY, Koch KW |title=Calcium- and myristoyl-dependent properties of guanylate cyclase-activating protein-1 and protein-2. |journal=Biochemistry |volume=41 |issue= 43 |pages= 13021-8 |year= 2002 |pmid= 12390029 |doi=  }}
*{{cite journal  |vauthors=Hwang JY, Koch KW |title=The myristoylation of the neuronal Ca2+ -sensors guanylate cyclase-activating protein 1 and 2 |journal=Biochim. Biophys. Acta |volume=1600 |issue= 1–2 |pages= 111–7 |year= 2002 |pmid= 12445466 |doi=  10.1016/S1570-9639(02)00451-X}}
*{{cite journal | author=Hwang JY, Koch KW |title=The myristoylation of the neuronal Ca2+ -sensors guanylate cyclase-activating protein 1 and 2. |journal=Biochim. Biophys. Acta |volume=1600 |issue= 1-2 |pages= 111-7 |year= 2002 |pmid= 12445466 |doi=  }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  |vauthors=Pennesi ME, Howes KA, Baehr W, Wu SM |title=Guanylate cyclase-activating protein (GCAP) 1 rescues cone recovery kinetics in GCAP1/GCAP2 knockout mice |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=100 |issue= 11 |pages= 6783–8 |year= 2003 |pmid= 12732716 |doi= 10.1073/pnas.1130102100  | pmc=164524 }}
*{{cite journal | author=Pennesi ME, Howes KA, Baehr W, Wu SM |title=Guanylate cyclase-activating protein (GCAP) 1 rescues cone recovery kinetics in GCAP1/GCAP2 knockout mice. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=100 |issue= 11 |pages= 6783-8 |year= 2003 |pmid= 12732716 |doi= 10.1073/pnas.1130102100 }}
*{{cite journal   |vauthors=Mungall AJ, Palmer SA, Sims SK, etal |title=The DNA sequence and analysis of human chromosome 6 |journal=Nature |volume=425 |issue= 6960 |pages= 805–11 |year= 2003 |pmid= 14574404 |doi= 10.1038/nature02055 }}
*{{cite journal | author=Mungall AJ, Palmer SA, Sims SK, ''et al.'' |title=The DNA sequence and analysis of human chromosome 6. |journal=Nature |volume=425 |issue= 6960 |pages= 805-11 |year= 2003 |pmid= 14574404 |doi= 10.1038/nature02055 }}
*{{cite journal   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504  | pmc=528928 }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  |vauthors=Peshenko IV, Moiseyev GP, Olshevskaya EV, Dizhoor AM |title=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) |journal=Biochemistry |volume=43 |issue= 43 |pages= 13796–804 |year= 2004 |pmid= 15504042 |doi= 10.1021/bi048943m }}
*{{cite journal | author=Peshenko IV, Moiseyev GP, Olshevskaya EV, Dizhoor AM |title=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). |journal=Biochemistry |volume=43 |issue= 43 |pages= 13796-804 |year= 2004 |pmid= 15504042 |doi= 10.1021/bi048943m }}
*{{cite journal   |vauthors=Nishiguchi KM, Sokal I, Yang L, etal |title=A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration |journal=Invest. Ophthalmol. Vis. Sci. |volume=45 |issue= 11 |pages= 3863–70 |year= 2004 |pmid= 15505030 |doi= 10.1167/iovs.04-0590  | pmc=1475955 }}
*{{cite journal | author=Nishiguchi KM, Sokal I, Yang L, ''et al.'' |title=A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration. |journal=Invest. Ophthalmol. Vis. Sci. |volume=45 |issue= 11 |pages= 3863-70 |year= 2004 |pmid= 15505030 |doi= 10.1167/iovs.04-0590 }}
*{{cite journal   |vauthors=Jiang L, Katz BJ, Yang Z, etal |title=Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A) |journal=Mol. Vis. |volume=11 |issue= |pages= 143–51 |year= 2005 |pmid= 15735604 |doi= }}
*{{cite journal | author=Jiang L, Katz BJ, Yang Z, ''et al.'' |title=Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A). |journal=Mol. Vis. |volume=11 |issue= |pages= 143-51 |year= 2005 |pmid= 15735604 |doi=  }}
*{{cite journal   |vauthors=Sokal I, Dupps WJ, Grassi MA, etal |title=A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD) |journal=Invest. Ophthalmol. Vis. Sci. |volume=46 |issue= 4 |pages= 1124–32 |year= 2005 |pmid= 15790869 |doi= 10.1167/iovs.04-1431 | pmc=1352313 }}
*{{cite journal  | author=Sokal I, Dupps WJ, Grassi MA, ''et al.'' |title=A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD). |journal=Invest. Ophthalmol. Vis. Sci. |volume=46 |issue= 4 |pages= 1124-32 |year= 2005 |pmid= 15790869 |doi= 10.1167/iovs.04-1431 }}
*{{cite journal   |vauthors=Michaelides M, Wilkie SE, Jenkins S, etal |title=Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy |journal=Ophthalmology |volume=112 |issue= 8 |pages= 1442–7 |year= 2005 |pmid= 15953638 |doi= 10.1016/j.ophtha.2005.02.024 }}
*{{cite journal | author=Michaelides M, Wilkie SE, Jenkins S, ''et al.'' |title=Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy. |journal=Ophthalmology |volume=112 |issue= 8 |pages= 1442-7 |year= 2005 |pmid= 15953638 |doi= 10.1016/j.ophtha.2005.02.024 }}
}}
}}
{{refend}}
{{refend}}


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[[Category:EF-hand-containing proteins]]
 
 
{{gene-6-stub}}

Latest revision as of 16:56, 6 March 2018

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Guanylyl cyclase-activating protein 1 is an enzyme that in humans is encoded by the GUCA1A gene.[1][2]


References

  1. ↑ 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): 273–7. doi:10.1093/hmg/7.2.273. PMID 9425234.
  2. ↑ "Entrez Gene: GUCA1A guanylate cyclase activator 1A (retina)".

Further reading


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