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Guanylate cyclase 2D, membrane

NKH, GC1, GUCY2D, Aminomethyltransferase
This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain, a single membrane spanning domain, a kinase homology domain, and a guanylyl cyclase catalytic domain. In contrast to other membrane guanylyl cyclases, this enzyme is not activated by natriuretic peptides. Mutations in this gene result in Leber congenital amaurosis and cone-rod dystrophy-6 diseases. [provided by RefSeq, Dec 2008] (from NCBI)
Top mentioned proteins: Gc2, HAD, CAN, ACID, ROD
Papers on NKH
Angiotensin II-Induced Hypertension Is Attenuated by Reduction of Sympathetic Output in NO-Sensitive Guanylyl Cyclase 1 Knockout Mice.
Mergia et al., Düsseldorf, Germany. In J Pharmacol Exp Ther, Jan 2016
NO-induced cGMP formation is catalyzed by two guanylyl cyclases (GC), NO-sensitive guanylyl cyclase 1 (NO-GC1) and NO-GC2, with indistinguishable enzymatic properties.
Evolution of AbGRI2-0, the progenitor of the AbGRI2 resistance island in global clone 2 of Acinetobacter baumannii.
Hall et al., Sydney, Australia. In Antimicrob Agents Chemother, Jan 2016
IS26-mediated inversions have also played a part in forming AbGRI2-0 and, upon reversal, large regions of AbGRI2-0 are identical to parts of AbaR0, the ancestral version of the AbaR islands present in GC1 isolates.
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.
Cremers et al., Nijmegen, Netherlands. In Eur J Hum Genet, Jan 2016
Currently, 21 genes are known to be associated with LCA and recurrent mutations have been observed in AIPL1, CEP290, CRB1 and GUCY2D.
Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes.
Zhang et al., In Invest Ophthalmol Vis Sci, Jan 2016
Of the 71 probands, 44 (62.0%) had mutations in 11 genes responsible for ocular diseases accompanied by high myopia, including COL2A1, COL11A1, PRPH2, FBN1, GNAT1, OPA1, PAX2, GUCY2D, TSPAN12, CACNA1F, and RPGR.
The full-length DNA sequence of Epstein Barr virus from a human gastric carcinoma cell line, SNU-719.
Kang et al., Seoul, South Korea. In Virus Genes, Dec 2015
In consistent with the notion that EBV sequence isolates better reflect their geographic area than tissue origin, the SNU-719 EBV (named as GC1) was categorized as an East Asian type I EBV.
A Mini-review: Animal Models of GUCY2D Leber Congenital Amaurosis (LCA1).
Boye, Gainesville, United States. In Adv Exp Med Biol, Dec 2015
GUCY2D encodes retinal guanylate cylase-1 (retGC1), a protein that plays a pivotal role in the recovery phase of phototransduction.
Nicotine Induced Murine Spermatozoa Apoptosis via Up-Regulation of Deubiquitinated RIP1 by Trim27 Promoter Hypomethylation.
Qiao et al., In Biol Reprod, Dec 2015
Finally, in vitro experiments of Trim27 over-expression and RNAi in GC-1 spg cells confirmed that the RIP1 deubiquitination and TRIM27 hyopmethylaiton were both in positive correlation with the spermatocyte apoptosis.
Leber congenital amaurosis caused by mutations in GUCY2D.
Boye, Gainesville, United States. In Cold Spring Harb Perspect Med, 2015
Mutations in retinal guanylate cyclase-1 (GUCY2D) are associated with LCA1, a prevalent form.
Corrigendum to "Yangjing Capsule Extract Promotes Proliferation of GC-1 Spg Cells".
Gao et al., Nanjing, China. In Evid Based Complement Alternat Med, 2014
UNASSIGNED: [This corrects the article DOI: 10.1155/2014/640857.].
Protein and Signaling Networks in Vertebrate Photoreceptor Cells.
Dell'Orco et al., Oldenburg, Germany. In Front Mol Neurosci, 2014
At least one GC (ROS-GC1) was shown to be part of a multiprotein complex having strong interactions with the cytoskeleton and being controlled in a multimodal Ca(2+)-dependent fashion.
Genome Sequence of Acinetobacter baumannii Strain D36, an Antibiotic-Resistant Isolate from Lineage 2 of Global Clone 1.
Hall et al., Sydney, Australia. In Genome Announc, 2014
Multiply antibiotic-resistant Acinetobacter baumannii isolate D36 was recovered in Australia in 2008 and belongs to a distinct lineage of global clone 1 (GC1).
Membrane guanylate cyclase, a multimodal transduction machine: history, present, and future directions.
Duda et al., United States. In Front Mol Neurosci, 2013
Section Controlled By Low and High Levels of [Ca(2+)]i, ROS-GC1 is a Bimodal Transduction Switch discusses a striking property of ROS-GC where it becomes a "[Ca(2+)]i bimodal switch" and transcends its signaling role in other neural processes.
Insights into the role of RD3 in guanylate cyclase trafficking, photoreceptor degeneration, and Leber congenital amaurosis.
Molday et al., Vancouver, United States. In Front Mol Neurosci, 2013
Mutations in the gene encoding RD3 resulting in unstable non-functional C-terminal truncated proteins are responsible for early onset photoreceptor degeneration in Leber Congenital Amaurosis 12 patients, the rd3 mice, and the rcd2 collies.
Olfactomedin 4 inhibits cathepsin C-mediated protease activities, thereby modulating neutrophil killing of Staphylococcus aureus and Escherichia coli in mice.
Rodgers et al., Bethesda, United States. In J Immunol, 2012
OLFM4 regulates host defense against a broad range of bacteria including Gram-positive Staphylococcus aureus and Gram-negative Escherichia coli in an OLFM4-deficient mouse model.
A novel GUCY2D mutation, V933A, causes central areolar choroidal dystrophy.
Bradley et al., Belfast, United Kingdom. In Invest Ophthalmol Vis Sci, 2012
This is the first report of a GUCY2D mutation causing central areolar choroidal dystrophy and adds to our understanding of genotype-phenotype correlation in this heterogeneous group of choroidoretinal dystrophies.
A genome-wide association meta-analysis identifies new childhood obesity loci.
Early Growth Genetics Consortium et al., Philadelphia, United States. In Nat Genet, 2012
Single nucleotide polymorphism in OLFM4 gene is associated with childhood obesity.
Depletion of OLFM4 gene inhibits cell growth and increases sensitization to hydrogen peroxide and tumor necrosis factor-alpha induced-apoptosis in gastric cancer cells.
Huang et al., Chongqing, China. In J Biomed Sci, 2011
depletion of OLFM4 significantly inhibits tumorigenicity of the gastric cancer SGC-7901 and MKN45 cells. Blocking OLFM4 expression can sensitize gastric cancer cells to H2O2 or TNF alpha treatment by increasing caspase-3 dependent apoptosis.
S100B serves as a Ca(2+) sensor for ROS-GC1 guanylate cyclase in cones but not in rods of the murine retina.
Sharma et al., Boston, United States. In Cell Physiol Biochem, 2011
Mouse photoreceptor ROS-GC1 is a bimodal Ca2+ transduction switch.
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.
Daiger et al., Houston, United States. In Nat Genet, 2000
5) are known to cause LCA, but one study identified disease-causing GUCY2D mutations in only 8 of 15 families whose LCA locus maps to 17p13.1 (ref.
Group-specific component: evidence for two subtypes of the Gc1 gene.
Viau et al., In Science, 1978
These patterns can be explained by the existence of two codominant Gc1 subtypes.
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