Rhodopsin

NameRhodopsin
Synonyms
  • OPN2
  • Opsin-2
Gene NameRHO
OrganismHuman
Amino acid sequence
>lcl|BSEQ0016346|Rhodopsin
MNGTEGPNFYVPFSNATGVVRSPFEYPQYYLAEPWQFSMLAAYMFLLIVLGFPINFLTLY
VTVQHKKLRTPLNYILLNLAVADLFMVLGGFTSTLYTSLHGYFVFGPTGCNLEGFFATLG
GEIALWSLVVLAIERYVVVCKPMSNFRFGENHAIMGVAFTWVMALACAAPPLAGWSRYIP
EGLQCSCGIDYYTLKPEVNNESFVIYMFVVHFTIPMIIIFFCYGQLVFTVKEAAAQQQES
ATTQKAEKEVTRMVIIMVIAFLICWVPYASVAFYIFTHQGSNFGPIFMTIPAFFAKSAAI
YNPVIYIMMNKQFRNCMLTTICCGKNPLGDDEASATVSKTETSQVAPA
Number of residues348
Molecular Weight38892.335
Theoretical pI6.64
GO Classification
Functions
  • G-protein coupled receptor activity
  • metal ion binding
  • photoreceptor activity
Processes
  • regulation of rhodopsin mediated signaling pathway
  • protein-chromophore linkage
  • rhodopsin mediated signaling pathway
  • protein phosphorylation
  • absorption of visible light
  • G-protein coupled receptor signaling pathway
  • phototransduction, visible light
  • organelle organization
  • retinoid metabolic process
  • retina development in camera-type eye
  • photoreceptor cell maintenance
  • visual perception
Components
  • Golgi apparatus
  • photoreceptor disc membrane
  • integral component of plasma membrane
  • photoreceptor outer segment membrane
  • photoreceptor outer segment
  • Golgi membrane
  • ciliary membrane
  • cell-cell junction
  • photoreceptor inner segment membrane
  • plasma membrane
  • Golgi-associated vesicle membrane
  • photoreceptor inner segment
General FunctionPhotoreceptor activity
Specific FunctionPhotoreceptor required for image-forming vision at low light intensity. Required for photoreceptor cell viability after birth. Light-induced isomerization of 11-cis to all-trans retinal triggers a conformational change leading to G-protein activation and release of all-trans retinal.
Pfam Domain Function
Transmembrane Regions37-61 74-98 114-133 153-176 203-230 253-276 285-309
GenBank Protein ID1236137
UniProtKB IDP08100
UniProtKB Entry NameOPSD_HUMAN
Cellular LocationMembrane
Gene sequence
>lcl|BSEQ0016347|Rhodopsin (RHO)
ATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTA
CGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTG
GCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTAC
GTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCC
GTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCAT
GGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGC
GGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGT
AAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACC
TGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTACATCCCC
GAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAAC
GAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTT
TTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGCCGCTGCCCAGCAGCAGGAGTCA
GCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCT
TTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGC
TCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATC
TACAACCCTGTCATCTATATCATGATGAACAAGCAGTTCCGGAACTGCATGCTCACCACC
ATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACG
GAGACGAGCCAGGTGGCCCCGGCCTAA
GenBank Gene IDU49742
GeneCard IDNot Available
GenAtlas IDRHO
HGNC IDHGNC:10012
Chromosome Location3
Locus3q21-q24
References
  1. Nathans J, Hogness DS: Isolation and nucleotide sequence of the gene encoding human rhodopsin. Proc Natl Acad Sci U S A. 1984 Aug;81(15):4851-5. 6589631
  2. Bechtel S, Rosenfelder H, Duda A, Schmidt CP, Ernst U, Wellenreuther R, Mehrle A, Schuster C, Bahr A, Blocker H, Heubner D, Hoerlein A, Michel G, Wedler H, Kohrer K, Ottenwalder B, Poustka A, Wiemann S, Schupp I: The full-ORF clone resource of the German cDNA Consortium. BMC Genomics. 2007 Oct 31;8:399. 17974005
  3. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. 15489334
  4. Bennett J, Sun D, Kariko K: Sequence analysis of the 5.34-kb 5' flanking region of the human rhodopsin-encoding gene. Gene. 1995 Dec 29;167(1-2):317-20. 8566799
  5. al-Maghtheh M, Gregory C, Inglehearn C, Hardcastle A, Bhattacharya S: Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Hum Mutat. 1993;2(4):249-55. 8401533
  6. Farrar GJ, Kenna P, Redmond R, McWilliam P, Bradley DG, Humphries MM, Sharp EM, Inglehearn CF, Bashir R, Jay M, et al.: Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe. Am J Hum Genet. 1990 Dec;47(6):941-5. 2239971
  7. Dryja TP, McGee TL, Reichel E, Hahn LB, Cowley GS, Yandell DW, Sandberg MA, Berson EL: A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature. 1990 Jan 25;343(6256):364-6. 2137202
  8. Dryja TP, McGee TL, Hahn LB, Cowley GS, Olsson JE, Reichel E, Sandberg MA, Berson EL: Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. N Engl J Med. 1990 Nov 8;323(19):1302-7. 2215617
  9. Inglehearn CF, Bashir R, Lester DH, Jay M, Bird AC, Bhattacharya SS: A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa. Am J Hum Genet. 1991 Jan;48(1):26-30. 1985460
  10. Sheffield VC, Fishman GA, Beck JS, Kimura AE, Stone EM: Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis. Am J Hum Genet. 1991 Oct;49(4):699-706. 1897520
  11. Gal A, Artlich A, Ludwig M, Niemeyer G, Olek K, Schwinger E, Schinzel A: Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa. Genomics. 1991 Oct;11(2):468-70. 1840561
  12. Sung CH, Davenport CM, Hennessey JC, Maumenee IH, Jacobson SG, Heckenlively JR, Nowakowski R, Fishman G, Gouras P, Nathans J: Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A. 1991 Aug 1;88(15):6481-5. 1862076
  13. Dryja TP, Hahn LB, Cowley GS, McGee TL, Berson EL: Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A. 1991 Oct 15;88(20):9370-4. 1833777
  14. Farrar GJ, Findlay JB, Kumar-Singh R, Kenna P, Humphries MM, Sharpe E, Humphries P: Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family. Hum Mol Genet. 1992 Dec;1(9):769-71. 1302614
  15. Fujiki K, Hotta Y, Hayakawa M, Sakuma H, Shiono T, Noro M, Sakuma T, Tamai M, Hikiji K, Kawaguchi R, et al.: Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP). Jpn J Hum Genet. 1992 Jun;37(2):125-32. 1391967
  16. Macke JP, Davenport CM, Jacobson SG, Hennessey JC, Gonzalez-Fernandez F, Conway BP, Heckenlively J, Palmer R, Maumenee IH, Sieving P, et al.: Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin. Am J Hum Genet. 1993 Jul;53(1):80-9. 8317502
  17. Kranich H, Bartkowski S, Denton MJ, Krey S, Dickinson P, Duvigneau C, Gal A: Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin. Hum Mol Genet. 1993 Jun;2(6):813-4. 8353500
  18. Dryja TP, Berson EL, Rao VR, Oprian DD: Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nat Genet. 1993 Jul;4(3):280-3. 8358437
  19. Vaithinathan R, Berson EL, Dryja TP: Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. Genomics. 1994 May 15;21(2):461-3. 8088850
  20. Reig C, Antich J, Gean E, Garcia-Sandoval B, Ramos C, Ayuso C, Carballo M: Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa. Hum Genet. 1994 Sep;94(3):283-6. 8076945
  21. Fuchs S, Kranich H, Denton MJ, Zrenner E, Bhattacharya SS, Humphries P, Gal A: Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa. Hum Mol Genet. 1994 Jul;3(7):1203. 7981701
  22. Antinolo G, Sanchez B, Borrego S, Rueda T, Chaparro P, Cabeza JC: Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa. Hum Mol Genet. 1994 Aug;3(8):1421. 7987326
  23. Souied E, Gerber S, Rozet JM, Bonneau D, Dufier JL, Ghazi I, Philip N, Soubrane G, Coscas G, Munnich A, et al.: Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa. Hum Mol Genet. 1994 Aug;3(8):1433-4. 7987331
  24. al-Maghtheh M, Inglehearn C, Lunt P, Jay M, Bird A, Bhattacharya S: Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa. Hum Mutat. 1994;3(4):409-10. 8081400
  25. Rosas DJ, Roman AJ, Weissbrod P, Macke JP, Nathans J: Autosomal dominant retinitis pigmentosa in a large family: a clinical and molecular genetic study. Invest Ophthalmol Vis Sci. 1994 Jul;35(8):3134-44. 8045708
  26. Kumaramanickavel G, Maw M, Denton MJ, John S, Srikumari CR, Orth U, Oehlmann R, Gal A: Missense rhodopsin mutation in a family with recessive RP. Nat Genet. 1994 Sep;8(1):10-1. 7987385
  27. Macke JP, Hennessey JC, Nathans J: Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347. Hum Mol Genet. 1995 Apr;4(4):775-6. 7633434
  28. Sieving PA, Richards JE, Naarendorp F, Bingham EL, Scott K, Alpern M: Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation. Proc Natl Acad Sci U S A. 1995 Jan 31;92(3):880-4. 7846071
  29. Souied E, Soubrane G, Benlian P, Coscas GJ, Gerber S, Munnich A, Kaplan J: Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. Am J Ophthalmol. 1996 Jan;121(1):19-25. 8554077
  30. Goliath R, Bardien S, September A, Martin R, Ramesar R, Greenberg J: Rhodopsin mutation G109R in a family with autosomal dominant retinitis pigmentosa. Hum Mutat. 1998;Suppl 1:S40-1. 9452035
  31. al-Jandal N, Farrar GJ, Kiang AS, Humphries MM, Bannon N, Findlay JB, Humphries P, Kenna PF: A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness. Hum Mutat. 1999;13(1):75-81. 9888392
  32. Kosmaoglou M, Kanuga N, Aguila M, Garriga P, Cheetham ME: A dual role for EDEM1 in the processing of rod opsin. J Cell Sci. 2009 Dec 15;122(Pt 24):4465-72. doi: 10.1242/jcs.055228. Epub 2009 Nov 24. 19934218
  33. Azam M, Khan MI, Gal A, Hussain A, Shah ST, Khan MS, Sadeque A, Bokhari H, Collin RW, Orth U, van Genderen MM, den Hollander AI, Cremers FP, Qamar R: A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa. Mol Vis. 2009 Dec 3;15:2526-34. 19960070
  34. Neveling K, Collin RW, Gilissen C, van Huet RA, Visser L, Kwint MP, Gijsen SJ, Zonneveld MN, Wieskamp N, de Ligt J, Siemiatkowska AM, Hoefsloot LH, Buckley MF, Kellner U, Branham KE, den Hollander AI, Hoischen A, Hoyng C, Klevering BJ, van den Born LI, Veltman JA, Cremers FP, Scheffer H: Next-generation genetic testing for retinitis pigmentosa. Hum Mutat. 2012 Jun;33(6):963-72. doi: 10.1002/humu.22045. Epub 2012 Mar 19. 22334370