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Showing Protein Rhodopsin (HMDBP02100)

IdentificationBiological propertiesGene propertiesProtein propertiesExternal linksReferencesXMLShow 4 metabolites
Identification
HMDB Protein ID HMDBP02100
Secondary Accession Numbers
  • 7582
Name Rhodopsin
Synonyms
  1. Opsin-2
Gene Name RHO
Protein Type Enzyme
Biological Properties
General Function Involved in G-protein coupled receptor protein signaling pathway
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
Pathways Not Available
Reactions Not Available
GO Classification
Component
cell part
membrane part
intrinsic to membrane
integral to membrane
Process
multicellular organismal process
system process
neurological system process
sensory perception
sensory perception of light stimulus
visual perception
phototransduction
biological regulation
regulation of biological process
regulation of cellular process
signal transduction
signaling
signaling pathway
cell surface receptor linked signaling pathway
g-protein coupled receptor protein signaling pathway
Cellular Location
  1. Membrane
  2. Multi-pass membrane protein
Gene Properties
Chromosome Location Chromosome:3
Locus 3q21-q24
SNPs RHO
Gene Sequence 
>1047 bp
ATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTA
CGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTG
GCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTAC
GTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCC
GTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCAT
GGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGC
GGTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGT
AAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACC
TGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTACATCCCC
GAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAAC
GAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTT
TTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAGGCCGCTGCCCAGCAGCAGGAGTCA
GCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCT
TTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGC
TCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATC
TACAACCCTGTCATCTATATCATGATGAACAAGCAGTTCCGGAACTGCATGCTCACCACC
ATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACG
GAGACGAGCCAGGTGGCCCCGGCCTAA
Protein Properties
Number of Residues 348
Molecular Weight 38892.3
Theoretical pI 6.64
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • 37-61
  • 74-98
  • 114-133
  • 153-176
  • 203-230
  • 253-276
  • 285-309
Protein Sequence 
>Rhodopsin
MNGTEGPNFYVPFSNATGVVRSPFEYPQYYLAEPWQFSMLAAYMFLLIVLGFPINFLTLY
VTVQHKKLRTPLNYILLNLAVADLFMVLGGFTSTLYTSLHGYFVFGPTGCNLEGFFATLG
GEIALWSLVVLAIERYVVVCKPMSNFRFGENHAIMGVAFTWVMALACAAPPLAGWSRYIP
EGLQCSCGIDYYTLKPEVNNESFVIYMFVVHFTIPMIIIFFCYGQLVFTVKEAAAQQQES
ATTQKAEKEVTRMVIIMVIAFLICWVPYASVAFYIFTHQGSNFGPIFMTIPAFFAKSAAI
YNPVIYIMMNKQFRNCMLTTICCGKNPLGDDEASATVSKTETSQVAPA
GenBank ID Protein 31873264
UniProtKB/Swiss-Prot ID P08100
UniProtKB/Swiss-Prot Entry Name OPSD_HUMAN
PDB IDs
GenBank Gene ID BX537381
GeneCard ID RHO
GenAtlas ID RHO
HGNC ID HGNC:10012
References
General References
  1. 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. [PubMed:15489334 ]
  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. [PubMed:17974005 ]
  3. 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. [PubMed:6589631 ]
  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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed:19960070 ]