GUCA1A

LOC118142757
Identifiers
Aliases	GUCA1A , C6orf131, COD3, CORD14, GCAP, GCAP1, GUCA, GUCA1, dJ139D8.6, guanylate cyclase activator 1A, GUCA1ANB-GUCA1A readthrough, GUCA1ANB-GUCA1A
External IDs	OMIM: 600364 MGI: 1922712 HomoloGene: 129540 GeneCards: GUCA1A
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	47,748,301 bp
RNA expression pattern
	n/a
	Top expressed in
	testicle; ; spermatid; ; liver; ; spermatocyte; ; placenta; ; islet of Langerhans; ; duodenum; ; morula; ; esophagus; ; jejunum;
	; ;
	More reference expression data
Gene ontology
Molecular function	calcium ion binding ; guanylate cyclase regulator activity ; metal ion binding ; calcium sensitive guanylate cyclase activator activity ;
Cellular component	photoreceptor inner segment ; membrane ; photoreceptor outer segment ; photoreceptor disc membrane ;
Biological process	cellular response to calcium ion ; phototransduction ; response to stimulus ; positive regulation of guanylate cyclase activity ; regulation of guanylate cyclase activity ; signal transduction ; visual perception ; regulation of rhodopsin mediated signaling pathway ; positive regulation of cGMP-mediated signaling ;
	Sources:Amigo / QuickGO
Orthologs
	118142757
	75462
	ENSG00000048545
	ENSMUSG00000047150
	P43080
	n/a
	NM_000409 ; NM_001319061 ; NM_001319062
	NM_001172091 ; NM_029296 ; NM_001347584
	NP_000400 ; NP_001305990 ; NP_001305991
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated August 16, 2023

Guanylyl cyclase-activating protein 1 is an enzyme that in humans is encoded by the GUCA1A gene.^[4]^[5]

Related Research Articles

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<span class="mw-page-title-main">Guanylate cyclase</span> Lyase enzyme that synthesizes cGMP from GTP

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Guanylyl cyclase-activating protein 2 is an enzyme that in humans is encoded by the GUCA1B gene. Alternative names:

Guanylate cyclase soluble subunit alpha-3 is an enzyme that in humans is encoded by the GUCY1A3 gene.

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Retinal guanylyl cyclase 2 also known as guanylate cyclase F (GUCY2F) is a protein that in humans is encoded by the GUCY2F gene.

References

1 2 3 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): 273–7. doi:10.1093/hmg/7.2.273. PMID 9425234.
↑ "Entrez Gene: GUCA1A guanylate cyclase activator 1A (retina)".

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. doi: 10.1016/S0021-9258(18)47393-0 . 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.
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. doi: 10.1074/jbc.273.28.17311 . 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. doi: 10.1016/S1097-2765(00)80121-5 . 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. doi: 10.1016/S0167-4889(00)00099-9 . 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. doi: 10.1001/archopht.119.11.1667 . 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. doi:10.1086/323265. PMC 1235478 . 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. doi:10.1021/bi026618y. 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. doi:10.1016/S1570-9639(02)00451-X. 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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC 139241 . 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. Bibcode:2003PNAS..100.6783P. doi: 10.1073/pnas.1130102100 . PMC 164524 . 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. Bibcode:2003Natur.425..805M. 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. PMC 528928 . 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. PMC 1475955 . 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. PMC 1352313 . 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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[refGRCm38Ensembl-1] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000047150 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9425234-4] 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.

[entrez-5] "Entrez Gene: GUCA1A guanylate cyclase activator 1A (retina)".

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GUCA1A

Related Research Articles

References

Further reading