OPN1SW

OPN1SW
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1KPN
Identifiers
Aliases	OPN1SW , BCP, BOP, CBT, opsin 1 (cone pigments), short-wave-sensitive, opsin 1, short wave sensitive
External IDs	OMIM: 613522; MGI: 99438; HomoloGene: 1291; GeneCards: OPN1SW; OMA:OPN1SW - orthologs
Gene location (Human) Chr. Chromosome 7 (human) [1] Band 7q32.1 Start 128,772,485 bp [1] End 128,775,794 bp [1]
Gene location (Mouse) Chr. Chromosome 6 (mouse) [2] Band 6|6 A3.3 Start 29,376,670 bp [2] End 29,388,467 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve Brodmann area 46 stromal cell of endometrium retinal pigment epithelium Achilles tendon Descending thoracic aorta apex of heart prefrontal cortex ganglionic eminence exocrine gland Top expressed in blastocyst neural layer of retina epithelium of lens outer nuclear layer retinal pigment epithelium lumbar subsegment of spinal cord embryo morula lumbar spinal ganglion genital tubercle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function G protein-coupled receptor activity photoreceptor activity signal transducer activity G protein-coupled photoreceptor activity signaling receptor activity Cellular component integral component of membrane integral component of plasma membrane membrane photoreceptor outer segment photoreceptor disc membrane Biological process response to stimulus signal transduction visual perception retinoid metabolic process phototransduction detection of visible light G protein-coupled receptor signaling pathway cellular response to light stimulus Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 611 12057 Ensembl ENSG00000128617 ENSMUSG00000058831 UniProt P03999 P51491 RefSeq (mRNA) NM_001708 NM_001385125 NM_007538 RefSeq (protein) NP_001699 NP_031564 Location (UCSC) Chr 7: 128.77 – 128.78 Mb Chr 6: 29.38 – 29.39 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Blue-sensitive opsin is a protein that in humans is encoded by the OPN1SW gene. ^{[5] [6] [7]} The OPN1SW gene provides instructions for making a protein that is essential for normal color vision. This protein is found in the retina, which is the light-sensitive tissue at the back of the eye. ^[8]

The OPN1SW gene provides instructions for making an opsin pigment that is more sensitive to light in the blue/violet part of the visible spectrum (short-wavelength light). Cones with this pigment are called short-wavelength-sensitive or S cones. ^[8] In response to light, the photopigment triggers a series of chemical reactions within an S cone. These reactions ultimately alter the cell's electrical charge, generating a signal that is transmitted to the brain. The brain combines input from all three types of cones to produce normal color vision. ^[8]

See also

• Opsin
• OPN1LW
• OPN1MW

References

1. GRCh38: Ensembl release 89: ENSG00000128617 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000058831 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Nathans J, Thomas D, Hogness DS (Apr 1986). "Molecular genetics of human color vision: the genes encoding blue, green, and red pigments". Science. 232 (4747): 193–202. Bibcode:1986Sci...232..193N. CiteSeerX   10.1.1.461.5915 . doi:10.1126/science.2937147. PMID   2937147.
6. Fitzgibbon J, Appukuttan B, Gayther S, Wells D, Delhanty J, Hunt DM (Feb 1994). "Localisation of the human blue cone pigment gene to chromosome band 7q31.3-32". Hum Genet. 93 (1): 79–80. doi:10.1007/bf00218919. PMID   8270261. S2CID   43548690.
7. "Entrez Gene: OPN1SW opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan)".
8. "OPN1SW gene: MedlinePlus Genetics".

Further reading

• Applebury ML, Hargrave PA (1987). "Molecular biology of the visual pigments". Vision Res. 26 (12): 1881–95. doi:10.1016/0042-6989(86)90115-X. PMID   3303660. S2CID   34038855.
• Swanson WH, Cohen JM (2003). "Color vision". Ophthalmology Clinics of North America. 16 (2): 179–203. doi:10.1016/S0896-1549(03)00004-X. PMID   12809157.
• Weitz CJ, Went LN, Nathans J (1992). "Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment". Am. J. Hum. Genet. 51 (2): 444–6. PMC   1682686 . PMID   1386496.
• Weitz CJ, Miyake Y, Shinzato K, et al. (1992). "Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin". Am. J. Hum. Genet. 50 (3): 498–507. PMC   1684278 . PMID   1531728.
• Oprian DD, Asenjo AB, Lee N, Pelletier SL (1992). "Design, chemical synthesis, and expression of genes for the three human color vision pigments". Biochemistry. 30 (48): 11367–72. doi:10.1021/bi00112a002. PMID   1742276.
• Sarkar G, Sommer SS (1989). "Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity". Science. 244 (4902): 331–4. Bibcode:1989Sci...244..331S. doi:10.1126/science.2565599. PMID   2565599.
• Nathans J, Piantanida TP, Eddy RL, et al. (1986). "Molecular genetics of inherited variation in human color vision". Science. 232 (4747): 203–10. Bibcode:1986Sci...232..203N. doi:10.1126/science.3485310. PMID   3485310.
• Shimmin LC, Mai P, Li WH (1997). "Sequences and evolution of human and squirrel monkey blue opsin genes". J. Mol. Evol. 44 (4): 378–82. Bibcode:1997JMolE..44..378S. doi:10.1007/PL00006157. PMID   9089077. S2CID   6425474.
• Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human Chromosome 7: DNA Sequence and Biology". Science. 300 (5620): 767–72. Bibcode:2003Sci...300..767S. doi:10.1126/science.1083423. PMC   2882961 . PMID   12690205.
• Gunther KL, Neitz J, Neitz M (2006). "A novel mutation in the short-wavelength-sensitive cone pigment gene associated with a tritan color vision defect". Vis. Neurosci. 23 (3–4): 403–9. doi:10.1017/S0952523806233169. PMID   16961973. S2CID   3748083.