{ "uniprot_canonical_ac": "P04000-1", "uniprot_ac": "P04000", "uniprot_id": "OPSR_HUMAN", "mass": { "chemical_mass": 40574.0, "monoisotopic_mass": 40574.0 }, "refseq": { "ac": "NP_064445", "name": "long-wave-sensitive opsin 1", "summary": "This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called red cone photopigment or long-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. This gene and the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of partial, protanopic colorblindness. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064445" }, "gene_names": [ { "name": "OPN1LW", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P04000", "id": "P04000" }, { "name": "CBBM; CBP; COD5; RCP; ROP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064445", "id": "NP_064445" }, { "name": "OPN1LW", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064445", "id": "NP_064445" }, { "name": "RCP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04000", "id": "P04000" } ], "protein_names": [ { "name": "Long-wave-sensitive opsin 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P04000" }, { "name": "ROP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04000" }, { "name": "Red cone photoreceptor pigment", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04000" }, { "name": "Red-sensitive opsin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04000" }, { "name": "cone dystrophy 5 (X-linked); red-sensitive opsin; red cone photoreceptor pigment; red cone opsin; opsin 1 (cone pigments), long-wave-sensitive", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064445", "id": "NP_064445" }, { "name": "long-wave-sensitive opsin 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064445", "id": "NP_064445" } ], "function": [ { "annotation": "In a Japanese male with congenital protan red/green color blindness the mutation Gly338Glu (GGG-->GAG) occurred in the single red gene resulting in no absorbance and loss of function", "evidence": [ { "database": "RefSeq", "id": "NP_064445", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064445" }, { "database": "PubMed", "id": "12051694", "url": "https://glygen.org/publication/PubMed/12051694" } ] }, { "annotation": "Insight from OPN1LW Gene Haplotypes into the Cause and Prevention of Myopia. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_064445", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064445" }, { "database": "PubMed", "id": "35741704", "url": "https://glygen.org/publication/PubMed/35741704" } ] }, { "annotation": "Intermixing the OPN1LW and OPN1MW Genes Disrupts the Exonic Splicing Code Causing an Array of Vision Disorders. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_064445", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064445" }, { "database": "PubMed", "id": "34440353", "url": "https://glygen.org/publication/PubMed/34440353" } ] }, { "annotation": "Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_064445", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064445" }, { "database": "PubMed", "id": "35743313", "url": "https://glygen.org/publication/PubMed/35743313" } ] }, { "annotation": "The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.", "evidence": [ { "database": "RefSeq", "id": "NP_064445", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064445" }, { "database": "PubMed", "id": "35759666", "url": "https://glygen.org/publication/PubMed/35759666" } ] }, { "annotation": "This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called red cone photopigment or long-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. This gene and the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of partial, protanopic colorblindness. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_064445", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064445" } ] }, { "annotation": "Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism.", "evidence": [ { "database": "RefSeq", "id": "NP_064445", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064445" }, { "database": "PubMed", "id": "37097228", "url": "https://glygen.org/publication/PubMed/37097228" } ] }, { "annotation": "Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal.", "evidence": [ { "database": "UniProtKB", "id": "P04000", "url": "https://www.uniprot.org/uniprot/P04000#function" } ] } ], "disease": [ { "disease_id": "DOID:0050679", "recommended_name": { "id": "DOID:0050679", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050679", "name": "blue cone monochromacy", "description": "An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance." }, "synonyms": [ { "id": "MONDO:0010563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010563", "name": "blue cone monochromacy", "description": "Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia." }, { "id": "MONDO:0010563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010563", "name": "S cone monochromacy", "description": "" }, { "id": "MONDO:0010563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010563", "name": "S cone monochromatism", "description": "" }, { "id": "MONDO:0010563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010563", "name": "X-linked incomplete achromatopsia", "description": "" }, { "id": "MONDO:0010563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010563", "name": "atypical X-linked achromatopsia", "description": "" }, { "id": "MONDO:0010563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010563", "name": "blue cone monochromacy", "description": "" }, { "id": "MONDO:0010563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010563", "name": "blue cone monochromacy, X-linked recessive", "description": "" }, { "id": "MONDO:0010563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010563", "name": "blue cone monochromatism", "description": "" }, { "id": "MONDO:0010563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010563", "name": "color blindness, blue monocone monochromatic type", "description": "" }, { "id": "MONDO:0010563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010563", "name": "colour blindness, blue monocone monochromatic type", "description": "" }, { "id": "MONDO:0010563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010563", "name": "BCM", "description": "" }, { "id": "MONDO:0010563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010563", "name": "CBBM", "description": "" }, { "id": "MONDO:0010563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010563", "name": "X-chromosome-linked achromatopsia", "description": "" }, { "id": "MONDO:0010563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010563", "name": "X-linked achromatopsia incomplete", "description": "" }, { "id": "MONDO:0010563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010563", "name": "achromatopsia incomplete X-linked", "description": "" }, { "id": "MONDO:0010563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010563", "name": "color blindness blue mono cone monochromatic type", "description": "" }, { "id": "MONDO:0010563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010563", "name": "colorblindness, blue-Mono-cone-monochromatic type", "description": "" }, { "id": "MONDO:0010563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010563", "name": "colour blindness blue mono cone monochromatic type", "description": "" }, { "id": "MONDO:0010563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010563", "name": "cone dystrophy 5, X-linked", "description": "" }, { "id": "MONDO:0010563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010563", "name": "incomplete achromatopsia X-linked", "description": "" }, { "id": "MIM:303700", "resource": "MIM", "url": "https://www.omim.org/entry/303700", "name": "Blue cone monochromacy", "description": "Blue cone monochromacy" } ], "evidence": [ { "id": "303700", "database": "MIM", "url": "https://www.omim.org/entry/303700" } ] }, { "disease_id": "DOID:13910", "recommended_name": { "id": "DOID:13910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13910", "name": "red color blindness", "description": "" }, "synonyms": [ { "id": "DOID:13910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13910", "name": "Protan defect", "description": "" }, { "id": "DOID:13910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13910", "name": "Protanopia", "description": "" }, { "id": "MONDO:0010565", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010565", "name": "red color blindness", "description": "Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males." }, { "id": "MONDO:0010565", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010565", "name": "colorblindness, protan", "description": "" }, { "id": "MONDO:0010565", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010565", "name": "partial achromatopsia, protan type", "description": "" }, { "id": "MONDO:0010565", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010565", "name": "protan defect", "description": "" }, { "id": "MONDO:0010565", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010565", "name": "protanopia", "description": "" }, { "id": "MONDO:0010565", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010565", "name": "red color blindness", "description": "" }, { "id": "MONDO:0010565", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010565", "name": "CBP", "description": "" }, { "id": "MONDO:0010565", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010565", "name": "colorblindness, partial, protan series", "description": "" }, { "id": "MONDO:0010565", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010565", "name": "protanomaly", "description": "" }, { "id": "MONDO:0010565", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010565", "name": "red colorblindness", "description": "" }, { "id": "MIM:303900", "resource": "MIM", "url": "https://www.omim.org/entry/303900", "name": "Colorblindness, partial, protan series", "description": "Colorblindness, partial, protan series" } ], "evidence": [ { "id": "303900", "database": "MIM", "url": "https://www.omim.org/entry/303900" } ] } ], "snv": [ { "evidence": [ { "id": "rs781989269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781989269" }, { "id": "rs781989269", "database": 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{ "database": "Ensembl Transcript", "id": "ENST00000369951.9", "url": "https://www.ensembl.org/id/ENST00000369951.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000358967.4", "url": "https://www.ensembl.org/id/ENSP00000358967.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "predicted", "site_seq": "S", "relation": "attached", "comment": "O-linked (GlcNAc) serine O-GlcNAcylation", "start_pos": 22, "start_aa": "Ser", "end_pos": 22, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser22", "evidence": [ { "id": "P04000", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04000#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 34, "start_aa": "Asn", "end_pos": 34, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn34", "evidence": [ { "id": "P04000", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04000#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported", "glycoprotein_predicted" ], "publication": [ { "title": "Encephalopsin: a novel mammalian extraretinal opsin discretely localized in the brain.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "1999", "authors": "Blackshaw S, Snyder SH", "evidence": [ { "database": "Reactome", "id": "R-HSA-419771", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419771" } ], "reference": [ { "type": "PubMed", "id": "10234000", "url": "https://glygen.org/publication/PubMed/10234000" } ] }, { "title": "Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus.", "journal": "Nature genetics", "date": "1999", "authors": "Yamamoto H, Simon A, Eriksson U, Harris E, Berson EL, Dryja TP", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "10369264", "url": "https://glygen.org/publication/PubMed/10369264" } ] }, { "title": "Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa.", "journal": "Nature genetics", "date": "1999", "authors": "Morimura H, Saindelle-Ribeaudeau F, Berson EL, Dryja TP", "evidence": [ { "database": "Reactome", "id": "R-HSA-419771", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419771" } ], "reference": [ { "type": "PubMed", "id": "10581022", "url": "https://glygen.org/publication/PubMed/10581022" } ] }, { "title": "11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus.", "journal": "Molecular vision", "date": "1999", "authors": "Gonzalez-Fernandez F, Kurz D, Bao Y, Newman S, Conway BP, Young JE, Han DP, Khani SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "10617778", "url": "https://glygen.org/publication/PubMed/10617778" } ] }, { "title": "A novel human opsin in the inner retina.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2000", "authors": "Provencio I, Rodriguez IR, Jiang G, Hayes WP, Moreira EF, Rollag MD", "evidence": [ { "database": "Reactome", "id": "R-HSA-419771", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419771" } ], "reference": [ { "type": "PubMed", "id": "10632589", "url": "https://glygen.org/publication/PubMed/10632589" } ] }, { "title": "Src tyrosine kinase is a novel direct effector of G proteins.", "journal": "Cell", "date": "2000", "authors": "Ma YC, Huang J, Ali S, Lowry W, Huang XY", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "11007482", "url": "https://glygen.org/publication/PubMed/11007482" } ] }, { "title": "A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.", "journal": "Investigative ophthalmology & visual science", "date": "2000", "authors": "Nakamura M, Hotta Y, Tanikawa A, Terasaki H, Miyake Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "11053295", "url": "https://glygen.org/publication/PubMed/11053295" } ] }, { "title": "A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus.", "journal": "American journal of ophthalmology", "date": "2000", "authors": "Kuroiwa S, Kikuchi T, Yoshimura N", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "11078852", "url": "https://glygen.org/publication/PubMed/11078852" } ] }, { "title": "Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man.", "journal": "Visual neuroscience", "date": "2000", "authors": "Cideciyan AV, Haeseleer F, Fariss RN, Aleman TS, Jang GF, Verlinde CLMJ, Marmor MF, Jacobson SG, Palczewski K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "11153648", "url": "https://glygen.org/publication/PubMed/11153648" } ] }, { "title": "Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.", "journal": "Nature genetics", "date": "2001", "authors": 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