OPN1LW

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Opsin 1 (cone pigments), long-wave-sensitive (color blindness, protan)
Identifiers
Symbol(s) OPN1LW; CBP; CBBM; RCP
External IDs OMIM: 303900 MGI: 1097692 HomoloGene: 68064
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 5956 14539
Ensembl ENSG00000102076 ENSMUSG00000031394
Uniprot P04000 O35599
Refseq NM_020061 (mRNA)
NP_064445 (protein)		 NM_008106 (mRNA)
NP_032132 (protein)
Location Chr X: 153.06 - 153.08 Mb Chr X: 70.38 - 70.4 Mb
Pubmed search [1] [2]

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]

[edit] See also

[edit] References

  1. ^ a b Entrez Gene: OPN1LW opsin 1 (cone pigments), long-wave-sensitive (color blindness, protan).

[edit] 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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v • d • e
Transmembrane receptor: G protein-coupled receptors
Class A: Rhodopsin like
Acetylcholine (M1, M2, M3, M4, M5) - Adrenergic (α1 (A, B, D), α2 (A, B, C), β1, β2, β3) - Adrenomedullin - Anaphylatoxin (C3a, C5a) - Angiotensin (1, 2) - Apelin - Bile acid - Bombesin (BRS3, GRPR, NMBR) - Bradykinin (B1, B2) - Cannabinoid (CB1, CB2) - Chemokine - Cholecystokinin (A, B) - Dopamine (D1, D2, D3, D4, D5) - Eicosanoid (CysLT (1, 2), LTB4 (1, 2), FPRL1, OXE, Prostaglandin ((DP (1, 2), EP (1, 2, 3, 4), PGF, Prostacyclin, Thromboxane) - EBI2 - Endothelin (A, B) - Estrogen - Formyl peptide (1, L1, L2) - Free fatty acid (1, 2, 3, 4) - FSH - Galanin (1, 2, 3) - Gonadotropin-releasing hormone (1, 2) - GPR (1, 3, 4, 6, 12, 15, 17, 18, 19, 20, 21, 22, 23, 25, 26, 27, 31, 32, 33, 34, 35, 37, 39, 42, 44, 45, 50, 52, 55, 61, 62, 63, 65, 68, 75, 77, 78, 79, 82, 83, 84, 85, 87, 88, 92, 101, 103, 119, 120, 132, 135, 139, 141, 142, 146, 148, 149, 150, 151, 152, 153, 160, 161, 162, 171, 172, 173, 174, 176, 177, 182) - Ghrelin - Histamine (H1, H2, H3, H4) - Kisspeptin - Luteinizing hormone/choriogonadotropin - Lysophospholipid (1, 2, 3, 4, 5, 6, 7, 8) - MAS (1, 1L, D, E, F, G, X1, X2, X3, X4) - Melanocortin (1, 2, 3, 4, 5) - MCHR (1, 2) - Melatonin (1A, 1B)- Motilin - neuromedin (B, U (1, 2)) - Neuropeptide (B/W (1, 2), FF (1, 2), S, Y (1, 2, 4, 5)) - Neurotensin (1, 2) - Opioid (Delta, Kappa, Mu, Nociceptin, but not Sigma) - Olfactory - Opsin (3, 4, 5, 1LW, 1MW, 1SW, RGR, RRH) - Orexin (1, 2) - Oxytocin - Oxoglutarate - PAF - Prokineticin (1, 2) - Prolactin-releasing peptide - Protease-activated (1, 2, 3, 4) - Purinergics (Adenosine (A1, A2a, A2b, A3), P2Y, (1, 2, 4, 5, 6, 8, 9, 10, 11, 12, 13, 14)) - Relaxin (1, 2, 3, 4) - Somatostatin (1, 2, 3, 4, 5) - Serotonin, all but 5-HT3 (5-HT1 (A, B, D, E, F), 5-HT2 (A, B, C), 5-HT (4, 5A, 6, 7)) - SREB - Succinate - TAAR (1, 2, 3, 5, 6, 8, 9) - Tachykinin (1, 2, 3) - Thyrotropin - Thyrotropin-releasing hormone - Urotensin-II - Vasopressin (1A, 1B, 2)
Class B: Secretin like
Class C: Metabotropic
glutamate / pheromone
Calcium-sensing receptor - GABA B (1, 2) - Glutamate receptor (Metabotropic glutamate (1, 2, 3, 4, 5, 6, 7, 8)) - GPRC6A - GPR (156, 158, 179) - RAIG (1, 2, 3, 4) - Taste receptors (TAS1R (1, 2, 3) TAS2R (1, 3, 4, 5, 8, 9, 10, 12, 13, 14, 16, 38, 39, 40, 41, 43, 44, 45, 46, 47, 48, 49, 50))
Frizzled / Smoothened
Frizzled (1, 2, 3, 4, 5, 6, 7, 8, 9, 10) - Smoothened