Recombinant Human Rhodopsin (RHO), partial

1. using cryo-electron microscopy, it is shown that the major interactions between activated rhodopsin and Gi are mediated by the C-terminal helix of the Gi alpha-subunit, which is wedged into the cytoplasmic cavity of the transmembrane helix bundle and directly contacts the amino terminus of helix 8 of rhodopsin PMID: 29899450
2. The identification of the pathogenic variant p.E113 K is the first description of a naturally-occurring mutation in the Schiff base counterion of RHO in patients. The heterozygous mutation c.337G > A in exon 1 was confirmed in the retinitis pigmentosa index patient as well as in five stationary night blindness-affected relatives. PMID: 27812022
3. data provide the first evidence that T17M rhodopsin mutant disrupts C3 secretion via the induction of ROS and the suppression of TWIST1. PMID: 28569420
4. Wild-type opsin mainly formed oligomers. Only a minor population formed aggregates. The G188R opsin mutant mainly formed aggregates. When wild-type opsin and G188R opsin were coexpressed in cells, properly folded wild-type opsin did not aggregate with G188R opsin and was trafficked normally to the cell membrane. The autosomal dominant phenotype due to misfolded opsin mutants is not due to WT-mutant physical interaction. PMID: 27117643
5. Data suggest that retinitis pigmentosa-associated mutation G51A behaves differently in human rhodopsin compared to bovine rhodopsin; human rhodopsin is more thermally stable than ancestral ancestrally reconstructed mammalian rhodopsin. PMID: 28369862
6. These findings provide a new understanding of the effects of oxLDL on endothelial proliferation, which is essential for developing new treatments against neovascularization and progression of atherosclerosis. PMID: 28701359
7. Study reports an X-ray free electron laser crystal structure of the rhodopsin-arrestin complex, in which the phosphorylated C terminus of rhodopsin forms an extended intermolecular beta sheet with the N-terminal beta strands of arrestin. Phosphorylation was detected at rhodopsin C-terminal tail residues T336 and S338. PMID: 28753425
8. results suggest that nonsense-mediated mRNA decay modulates the severity of retinitis pigmentosa in patients with nonsense mutations in the rhodopsin gene PMID: 26416182
9. both the charged G90D(2.57) and the hydrophobic T94I(2.61) mutation alter the dark state by weakening the interaction between the Schiff base (SB) and its counterion E113(3.28) We propose that this interference with the tight regulation of the dim light photoreceptor rhodopsin increases background noise in the visual system and causes the loss of night vision characteristic for CSNB patients. PMID: 27458239
10. A mutation-independent strategy appears viable in this specific context but certain mutations could significantly influence ribozyme or RNAi efficacy through impact on accessibility at the target annealing site/region. PMID: 28715844
11. a recurrent missense mutation (c.403C > T, p.R135W) in the rhodopsin (RHO) gene cosegregated with all retinitis pigmentosa affected individuals in the family. PMID: 26794436
12. Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7. PMID: 26887858
13. Functional role of positively selected amino acid substitutions in mammalian rhodopsin evolution has been uncovered for a large number of mammalian species. PMID: 26865329
14. Our study shows that RHO mutations are a major cause of adRP in this cohort and are responsible for 28% of adRP families. PMID: 26962691
15. analysis of the crystal structure of the rhodopsin-arrestin complex PMID: 26467309
16. A whole-exome sequencing approach led to identification of a deletion in RHO through detection of a new linked variant in COL6A6 in autosomal dominant retinitis pigmentosa. PMID: 26321861
17. These insights into the dynamics of the ground states and the early photocycle stages enhance our understanding of the channel function of Channel rhodopsin. PMID: 26114863
18. Studies indicate that misfolding of rhodopsin can result in disruptions in cellular protein homeostasis, or proteostasis. PMID: 26427449
19. FIP3 (RAB11-FIP3) promotes the activity of Rab11a and the ASAP1 in the Arf4-dependent ciliary transport of the sensory receptor rhodopsin. PMID: 25673879
20. RHO polymorphisms (rs7984, rs2855557 and rs2410) and haplotypes may confer remarkable susceptibility to age-related macular degeneration PMID: 26045836
21. The study identified a RHO gene mutation (p.Thr58Met) not previously reported in RP in a patient with sector retinitis pigmentosa (RP). PMID: 25265376
22. Similar vacuolization in photoreceptor outer segment discs of transgenic mice expressing human rhodopsin with a T17M mutation or non-glycosylated form of rhodopsin was found. Non-glycosylated rhodopsin is unstable and is regulated via ubiquitin pathway PMID: 25637522
23. reveal the spectrum and frequency of RHO mutations in Chinese patients with different forms of retinitis pigmentosa and demonstrate that RHO mutations account for a high proportion of autosomal dominant retinitis pigmentosa cases PMID: 25221422
24. show that although the basic activation pathways of human and bovine rhodopsin are similar, structural deviations exist in the inactive conformation and during receptor activation, even between closely related rhodopsins PMID: 26105054
25. Rer1p regulates the ER retention of immature or misfolded rhodopsin and modulates its intracellular trafficking through the early secretory pathway. PMID: 25096327
26. crystal structure of a constitutively active form of human rhodopsin bound to a pre-activated form of the mouse visual arrestin, determined by serial femtosecond X-ray laser crystallography PMID: 26200343
27. RHO has an intrinsic water pathway, which in the receptors' resting state is interrupted by a hydrophobic layer of amino acid residues and upon agonist binding, opened to a continuous intrinsic water channel. PMID: 25203160
28. ERdj5 is a member of the proteostasis network that regulates rod opsin biogenesis and supports a role for disulfide bond formation/reduction in rod opsin biogenesis and disease. PMID: 25055872
29. This retrospective study provides a wide spectrum of mutations in the RHO gene in Spanish patients with autosomal dominant Retinitis Pigmentosa . PMID: 25408095
30. Data indicate that transfected human channelrhodopsin-2 (rhodopsin) increased the action potential in the rat spinal cord and activated the calcium channel in dorsal root ganglion neurons. PMID: 25171072
31. In this report we describe a New Zealand family, of European heritage, affected by a sectoral type RP phenotype in association with a novel rhodopsin mutation (proline-170-histidine) in a highly conserved site. PMID: 24918165
32. Data indicate that the number of nanodomains present in a single disc was dependent on the number of rhodopsin molecules incorporated into the membrane. PMID: 25305340
33. Electron paramagnetic resonance spectra of the spin-labeled samples indicate that the extracellular residues of RHO retain more rigidity in the denatured states than the cytoplasmic residues. PMID: 25268658
34. tHE results OF THIS STUDY identify a novel pathogenic mechanism in which the glycosylation-deficient rhodopsins are destabilized by light activation. PMID: 25274813
35. There is a correlation between the stability of rhodopsin mutations and disease severity and levels of membrane-bound rhodopsin. PMID: 24520188
36. Many biochemical studies have demonstrated that P23H mutation induces rhodopsin (RHO) misfolding leading to endoplasmic reticulum stress. PMID: 24664733
37. These studies indicate that activation of either IRE1, ATF6, or PERK prevents mutant rhodopsin from accumulating in the cells. PMID: 24664756
38. It regulates relaxation of vascular smooth muscle. PMID: 24717605
39. In the dark, rhodopsin 11-cis retinal chromophore serves as an inverse agonist to lock the receptor in an inactive state. (Review) PMID: 24183693
40. development of rod photoreceptors in TgP23H swine embryos. PMID: 24618321
41. Retinitis pigmentosa mutants provide insight into the role of the N-terminal cap in rhodopsin folding, structure, and function. PMID: 24106275
42. This study demonistrated that rhodopsin P23H mutation cause early degeneration of retin. PMID: 23557623
43. The purpose of this study was to test for mechanisms by which the autosomal dominant rhodopsin mutation Ter349Glu causes an early, rapid retinal degeneration. PMID: 23940033
44. X-ray crstallographic analysis of rhodopsin reveals the congenital stationary night blindness-causing G90D mutation introduces a salt bridge with K296. PMID: 23579341
45. The S186W mutant thermally destabilizes rhodopsin by disrupting a hydrogen bond network at the receptor's active site. PMID: 23625926
46. The c.233A>T mutation at RHO exon 1 caused sectorial retinitis pigmentosa in a pedigree with intrafamilial clinical heterogeneity. PMID: 23402891
47. Two mutations in the RHO gene have been found in two Chinese families with retinitis pigmentosa. PMID: 23288993
48. Pathogenic mutations in rhodopsin can lead to autosomal dominant retinitis pigmentosa. PMID: 22791210
49. Data suggest that BiP (HSPA5) is important for maintaining the solubility of rod opsin in the endoplasmic reticulum. PMID: 22855534
50. Less severe phenotypes occurred in patients with p.R135W in rhodopsin. PMID: 23049240

Show More

Hide All

HGNC: 10012

OMIM: 180380

KEGG: hsa:6010

STRING: 9606.ENSP00000296271

UniGene: Hs.247565