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GUCY2D
a transmembrane guanylyl cyclase enzyme with a tyrosine kinse domain. Probably plays a specific functional role in the rods and/or cones of photoreceptors. It may be the enzyme involved in the resynthesis of cGMP required for recovery of the dark state after phototransduction. Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. Localized exclusively in the nuclei and inner segments of the rod and cone photoreceptor cells. The pseudokinase domains of guanylyl cyclases have been reported to allosterically increase the affinity of their catalytic domains for substrate. Note: This description may include information from UniProtKB.
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| Protein type: EC 4.6.1.2; Guanylyl cyclase; Kinase, protein; Lyase; Membrane protein, integral; Nucleotide Metabolism - purine; Protein kinase, RGC; Protein kinase, dual-specificity (receptor); RGC family; RGC group; Receptor, misc. |
| Chromosomal Location of human Ortholog: 17p13.1 |
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Cellular Component:
integral component of plasma membrane; nuclear outer membrane; photoreceptor disc membrane
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Molecular Function:
ATP binding; GTP binding; protein binding; protein kinase activity; signaling receptor activity
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Biological Process:
intracellular signal transduction; protein phosphorylation; regulation of rhodopsin mediated signaling pathway; visual perception
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Disease: Choroidal Dystrophy, Central Areolar, 1; Cone-rod Dystrophy 6; Leber Congenital Amaurosis 1; Night Blindness, Congenital Stationary, Type1i
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Reference #:
Q02846
(UniProtKB)
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Alt. Names/Synonyms: CACD1; CG-E; cone rod dystrophy 6; CORD5; CORD6; CSNB1I; CYGD; guanylate cyclase 2D, membrane (retina-specific); Guanylate cyclase 2D, retinal; GUC1A4; GUC2D; GUCY2D; LCA; LCA1; RCD2; RETGC; RETGC-1; RETGC1; retinal guanylate cyclase 1; Retinal guanylyl cyclase 1; Rod outer segment membrane guanylate cyclase; ROS-GC; ROS-GC1; ROSGC
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Gene Symbols: GUCY2D
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Molecular weight:
120,059 Da
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Basal Isoelectric point:
7.15
Predict pI for various phosphorylation states
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