Rhodopsin
Details
- Name
- Rhodopsin
- Synonyms
- OPN2
- Opsin-2
- Gene Name
- RHO
- Organism
- Humans
- Amino acid sequence
>lcl|BSEQ0016346|Rhodopsin MNGTEGPNFYVPFSNATGVVRSPFEYPQYYLAEPWQFSMLAAYMFLLIVLGFPINFLTLY VTVQHKKLRTPLNYILLNLAVADLFMVLGGFTSTLYTSLHGYFVFGPTGCNLEGFFATLG GEIALWSLVVLAIERYVVVCKPMSNFRFGENHAIMGVAFTWVMALACAAPPLAGWSRYIP EGLQCSCGIDYYTLKPEVNNESFVIYMFVVHFTIPMIIIFFCYGQLVFTVKEAAAQQQES ATTQKAEKEVTRMVIIMVIAFLICWVPYASVAFYIFTHQGSNFGPIFMTIPAFFAKSAAI YNPVIYIMMNKQFRNCMLTTICCGKNPLGDDEASATVSKTETSQVAPA
- Number of residues
- 348
- Molecular Weight
- 38892.335
- Theoretical pI
- 6.64
- GO Classification
- FunctionsG-protein coupled receptor activity / metal ion binding / photoreceptor activityProcessesabsorption of visible light / G-protein coupled receptor signaling pathway / organelle organization / photoreceptor cell maintenance / phototransduction, visible light / protein phosphorylation / protein-chromophore linkage / regulation of rhodopsin mediated signaling pathway / retina development in camera-type eye / retinoid metabolic process / rhodopsin mediated signaling pathway / visual perceptionComponentscell-cell junction / ciliary membrane / Golgi apparatus / Golgi membrane / Golgi-associated vesicle membrane / integral component of plasma membrane / photoreceptor disc membrane / photoreceptor inner segment / photoreceptor inner segment membrane / photoreceptor outer segment / photoreceptor outer segment membrane / plasma membrane
- General Function
- Photoreceptor activity
- Specific Function
- Photoreceptor 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 Regions
- 37-61 74-98 114-133 153-176 203-230 253-276 285-309
- Cellular Location
- Membrane
- Gene sequence
>lcl|BSEQ0016347|Rhodopsin (RHO) ATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTA CGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTG GCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTAC GTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCC GTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCAT GGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGC GGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGT AAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACC TGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTACATCCCC GAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAAC GAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTT TTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGCCGCTGCCCAGCAGCAGGAGTCA GCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCT TTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGC TCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATC TACAACCCTGTCATCTATATCATGATGAACAAGCAGTTCCGGAACTGCATGCTCACCACC ATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACG GAGACGAGCCAGGTGGCCCCGGCCTAA
- Chromosome Location
- 3
- Locus
- 3q21-q24
- External Identifiers
Resource Link UniProtKB ID P08100 UniProtKB Entry Name OPSD_HUMAN GenBank Protein ID 1236137 GenBank Gene ID U49742 GenAtlas ID RHO HGNC ID HGNC:10012 - General References
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- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
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- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
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- 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. [Article]
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Drug Relations
- Drug Relations
DrugBank ID Name Drug group Pharmacological action? Actions Details DB01159 Halothane approved, vet_approved unknown other Details DB01728 1,2-dihexadecanoyl-sn-glycero-3-phosphoethanolamine experimental unknown Details DB03381 Hexadecanal experimental unknown Details DB03796 Palmitic Acid approved unknown Details DB04079 Heptane-1,2,3-Triol experimental unknown Details DB02482 Phosphonothreonine experimental unknown Details DB04522 Dexfosfoserine experimental unknown Details DB01646 N-Acetylmethionine experimental unknown Details DB03152 B-2-Octylglucoside experimental unknown Details DB02451 B-nonylglucoside experimental unknown Details DB04233 (Hydroxyethyloxy)Tri(Ethyloxy)Octane experimental unknown Details DB04450 Heptyl 1-Thiohexopyranoside experimental unknown Details DB04147 Dodecyldimethylamine N-oxide experimental unknown Details