OPN1LW
| Opsin 1 (cone pigments), long-wave-sensitive (color blindness, protan) | |||||||||||
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| Identifiers | |||||||||||
| Symbols | OPN1LW ; CBP; CBBM; RCP | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 68064 | ||||||||||
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| RNA expression pattern | |||||||||||
| File:PBB GE OPN1LW 221327 s at tn.png | |||||||||||
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| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
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| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
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Opsin 1 (cone pigments), long-wave-sensitive (color blindness, protan), also known as OPN1LW, is a human gene.[1]
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.[1]
See also
References
Further reading
- Applebury ML, Hargrave PA (1987). "Molecular biology of the visual pigments". Vision Res. 26 (12): 1881–95. PMID 3303660.
- Winderickx J, Lindsey DT, Sanocki E; et al. (1992). "Polymorphism in red photopigment underlies variation in colour matching". Nature. 356 (6368): 431–3. doi:10.1038/356431a0. PMID 1557123.
- Dietrich A, Korn B, Poustka A (1992). "Completion of the physical map of Xq28: the location of the gene for L1CAM on the human X chromosome". Mamm. Genome. 3 (3): 168–72. PMID 1617223.
- Arveiler B, Vincent A, Mandel JL (1989). "Toward a physical map of the Xq28 region in man: linking color vision, G6PD, and coagulation factor VIII genes to an X-Y homology region". Genomics. 4 (4): 460–71. PMID 2501212.
- Nathans J, Thomas D, Hogness DS (1986). "Molecular genetics of human color vision: the genes encoding blue, green, and red pigments". Science. 232 (4747): 193–202. PMID 2937147.
- Adams MD, Kerlavage AR, Fleischmann RD; et al. (1995). "Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence". Nature. 377 (6547 Suppl): 3–174. PMID 7566098.
- Li ZY, Kljavin IJ, Milam AH (1995). "Rod photoreceptor neurite sprouting in retinitis pigmentosa". J. Neurosci. 15 (8): 5429–38. PMID 7643192.
- Chen J, Tucker CL, Woodford B; et al. (1994). "The human blue opsin promoter directs transgene expression in short-wave cones and bipolar cells in the mouse retina". Proc. Natl. Acad. Sci. U.S.A. 91 (7): 2611–5. PMID 8146162.
- Nathans J, Maumenee IH, Zrenner E; et al. (1993). "Genetic heterogeneity among blue-cone monochromats". Am. J. Hum. Genet. 53 (5): 987–1000. PMID 8213841.
- Ladekjaer-Mikkelsen AS, Rosenberg T, Jørgensen AL (1996). "A new mechanism in blue cone monochromatism". Hum. Genet. 98 (4): 403–8. PMID 8792812.
- Ferreira PA, Nakayama TA, Pak WL, Travis GH (1996). "Cyclophilin-related protein RanBP2 acts as chaperone for red/green opsin". Nature. 383 (6601): 637–40. doi:10.1038/383637a0. PMID 8857542.
- Voegel JJ, Heine MJ, Tini M; et al. (1998). "The coactivator TIF2 contains three nuclear receptor-binding motifs and mediates transactivation through CBP binding-dependent and -independent pathways". EMBO J. 17 (2): 507–19. doi:10.1093/emboj/17.2.507. PMID 9430642.
- Zhao Z, Hewett-Emmett D, Li WH (1998). "Frequent gene conversion between human red and green opsin genes". J. Mol. Evol. 46 (4): 494–6. PMID 9541545.
- Nakayama TA, Zhang W, Cowan A, Kung M (1999). "Mutagenesis studies of human red opsin: trp-281 is essential for proper folding and protein-retinal interactions". Biochemistry. 37 (50): 17487–94. doi:10.1021/bi982077u. PMID 9860863.
- John SK, Smith JE, Aguirre GD, Milam AH (2000). "Loss of cone molecular markers in rhodopsin-mutant human retinas with retinitis pigmentosa". Mol. Vis. 6: 204–15. PMID 11063754.
- Ueyama H, Kuwayama S, Imai H; et al. (2002). "Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies". Biochem. Biophys. Res. Commun. 294 (2): 205–9. doi:10.1016/S0006-291X(02)00458-8. PMID 12051694.
- Fitzgerald KA, Rowe DC, Barnes BJ; et al. (2003). "LPS-TLR4 signaling to IRF-3/7 and NF-kappaB involves the toll adapters TRAM and TRIF". J. Exp. Med. 198 (7): 1043–55. doi:10.1084/jem.20031023. PMID 14517278.
- Long J, Wang G, Matsuura I; et al. (2004). "Activation of Smad transcriptional activity by protein inhibitor of activated STAT3 (PIAS3)". Proc. Natl. Acad. Sci. U.S.A. 101 (1): 99–104. doi:10.1073/pnas.0307598100. PMID 14691252.
- Ross MT, Grafham DV, Coffey AJ; et al. (2005). "The DNA sequence of the human X chromosome". Nature. 434 (7031): 325–37. doi:10.1038/nature03440. PMID 15772651.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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