Property Summary

NCBI Gene PubMed Count 46
Grant Count 35
R01 Count 22
Funding $3,374,660.66
PubMed Score 240.97
PubTator Score 80.42

Knowledge Summary

Patent (29,873)

Gene RIF (21)

PMID Text
26387074 The study reports on a different regeneration mechanism among red and green cone opsins with retinal analogs using UV-Vis/fluorescence spectroscopic analyses, molecular modeling and site-directed mutagenesis.
26368273 The Ser180Ala polymorphisms on the L-opsin gene were found to influence the subject's color discrimination and their sensitivity to spatio-chromatic patterns.
26114493 Our study confirms the findings that unique variants in OPN1LW are responsible for both syndromic and nonsyndromic X-linked high myopia mapped to MYP1.
25820227 We identified 76 individuals with an L-M array. Four had exonic mutations, but the other 72 had no mutation in the exons or flanking introns. Sixty-nine of the 72 individuals had a -71A>C substitution in the M gene promoter.
24058409 Using several human ROP enhancer/promoter-luciferase reporter constructs, the study found that thyroid hormone receptor beta 2 increased luciferase activities through the 5'-UTR and intron 3-4 region.
23139274 The photoreceptor phenotype associated with OPN1LW and OPN1MW mutations is highly variable. These findings have implications for the potential restoration of visual function in subjects with opsin mutations.
22998501 Identification of one single red-green OPN1LW/MW hybrid gene harboring a point mutation that associates with blue cone monochromatism.
22732407 These results suggest that complete skipping of exon 3 at splicing, due to the unique haplotype of the exon, causes loss of expression of L-opsin in 119 Japanise men with protanopia color vision defect.
22183383 Missense mutation in both OPN1LW and OPN1MW cause X-linked cone dystrophy.
21451022 Opsin expression in terminally differentiated mammalian cones remains subject to control by thyroid hormone through its receptor TRbeta2.
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AA Sequence

MAQQWSLQRLAGRHPQDSYEDSTQSSIFTYTNSNSTRGPFEGPNYHIAPRWVYHLTSVWMIFVVTASVFT      1 - 70
NGLVLAATMKFKKLRHPLNWILVNLAVADLAETVIASTISIVNQVSGYFVLGHPMCVLEGYTVSLCGITG     71 - 140
LWSLAIISWERWLVVCKPFGNVRFDAKLAIVGIAFSWIWSAVWTAPPIFGWSRYWPHGLKTSCGPDVFSG    141 - 210
SSYPGVQSYMIVLMVTCCIIPLAIIMLCYLQVWLAIRAVAKQQKESESTQKAEKEVTRMVVVMIFAYCVC    211 - 280
WGPYTFFACFAAANPGYAFHPLMAALPAYFAKSATIYNPVIYVFMNRQFRNCILQLFGKKVDDGSELSSA    281 - 350
SKTEVSSVSSVSPA                                                            351 - 364
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Text Mined References (46)

PMID Year Title
26387074 2016 Beyond spectral tuning: human cone visual pigments adopt different transient conformations for chromophore regeneration.
26368273 2015 The influence of L-opsin gene polymorphisms and neural ageing on spatio-chromatic contrast sensitivity in 20-71 year olds.
26114493 2015 Unique Variants in OPN1LW Cause Both Syndromic and Nonsyndromic X-Linked High Myopia Mapped to MYP1.
25820227 2015 A new subset of deutan colour vision defect associated with an L/M visual pigment gene array of normal order and -71C substitution in the Japanese population.
24058409 2013 Enhancer/promoter activities of the long/middle wavelength-sensitive opsins of vertebrates mediated by thyroid hormone receptor ?2 and COUP-TFII.
23139274 2012 The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic.
22998501 Blue cone monochromatism in a female due to skewed X-inactivation.
22888021 2012 G protein-coupled receptors participate in cytokinesis.
22732407 2012 Unique haplotype in exon 3 of cone opsin mRNA affects splicing of its precursor, leading to congenital color vision defect.
22183383 2012 A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5).
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