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P04000 (OPSR_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 148. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Long-wave-sensitive opsin 1
Alternative name(s):
Red cone photoreceptor pigment
Red-sensitive opsin
Short name=ROP
Gene names
Name:OPN1LW
Synonyms:RCP
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length364 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal.

Subcellular location

Membrane; Multi-pass membrane protein.

Tissue specificity

The three color pigments are found in the cone photoreceptor cells.

Post-translational modification

Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region.

Involvement in disease

Colorblindness, partial, protan series (CBP) [MIM:303900]: A color vision defect characterized by a dichromasy in which red and green are confused, with loss of luminance and shift of brightness and hue curves toward the short wave end of the spectrum. Dichromasy is due to the use of only two types of photoreceptors, blue plus red in deuteranopia and blue plus green in protanopia.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Blue cone monochromacy (BCM) [MIM:303700]: A rare X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, and photophobia. Patients often have myopia.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Ref.6

Sequence similarities

Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.

Biophysicochemical properties

Absorption:

Abs(max)=560 nm

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 364364Long-wave-sensitive opsin 1
PRO_0000197802

Regions

Topological domain1 – 5252Extracellular
Transmembrane53 – 7725Helical; Name=1; Potential
Topological domain78 – 8912Cytoplasmic
Transmembrane90 – 11526Helical; Name=2; Potential
Topological domain116 – 12914Extracellular
Transmembrane130 – 14920Helical; Name=3; Potential
Topological domain150 – 16819Cytoplasmic
Transmembrane169 – 19224Helical; Name=4; Potential
Topological domain193 – 21826Extracellular
Transmembrane219 – 24628Helical; Name=5; Potential
Topological domain247 – 26822Cytoplasmic
Transmembrane269 – 29224Helical; Name=6; Potential
Topological domain293 – 3008Extracellular
Transmembrane301 – 32525Helical; Name=7; Potential
Topological domain326 – 36439Cytoplasmic

Amino acid modifications

Modified residue3121N6-(retinylidene)lysine
Glycosylation341N-linked (GlcNAc...) Probable
Disulfide bond126 ↔ 203 Potential

Natural variations

Natural variant651T → I.
Corresponds to variant rs1065419 [ dbSNP | Ensembl ].
VAR_012009
Natural variant1111I → V.
Corresponds to variant rs1065421 [ dbSNP | Ensembl ].
VAR_012010
Natural variant1161S → Y.
Corresponds to variant rs1065422 [ dbSNP | Ensembl ].
VAR_012011
Natural variant1531L → M.
Corresponds to variant rs713 [ dbSNP | Ensembl ].
VAR_012012
Natural variant1741A → V.
Corresponds to variant rs731613 [ dbSNP | Ensembl ].
VAR_012013
Natural variant1801S → A in 38% of the population. Ref.4
Corresponds to variant rs949431 [ dbSNP | Ensembl ].
VAR_004842
Natural variant2031C → R in BCM. Ref.5 Ref.6
VAR_009298
Natural variant2301I → T.
Corresponds to variant rs1065425 [ dbSNP | Ensembl ].
VAR_012014
Natural variant2741I → V.
Corresponds to variant rs2315122 [ dbSNP | Ensembl ].
VAR_050612
Natural variant2981A → P.
Corresponds to variant rs1065440 [ dbSNP | Ensembl ].
VAR_012015
Natural variant3071P → L in BCM. Ref.5
VAR_009299
Natural variant3091Y → F.
Corresponds to variant rs1065441 [ dbSNP | Ensembl ].
VAR_012016
Natural variant3381G → E in CBP. Ref.7
VAR_064054

Sequences

Sequence LengthMass (Da)Tools
P04000 [UniParc].

Last modified October 23, 1986. Version 1.
Checksum: D9DACDC17BF20DB3

FASTA36440,572
        10         20         30         40         50         60 
MAQQWSLQRL AGRHPQDSYE DSTQSSIFTY TNSNSTRGPF EGPNYHIAPR WVYHLTSVWM 

        70         80         90        100        110        120 
IFVVTASVFT NGLVLAATMK FKKLRHPLNW ILVNLAVADL AETVIASTIS IVNQVSGYFV 

       130        140        150        160        170        180 
LGHPMCVLEG YTVSLCGITG LWSLAIISWE RWLVVCKPFG NVRFDAKLAI VGIAFSWIWS 

       190        200        210        220        230        240 
AVWTAPPIFG WSRYWPHGLK TSCGPDVFSG SSYPGVQSYM IVLMVTCCII PLAIIMLCYL 

       250        260        270        280        290        300 
QVWLAIRAVA KQQKESESTQ KAEKEVTRMV VVMIFAYCVC WGPYTFFACF AAANPGYAFH 

       310        320        330        340        350        360 
PLMAALPAYF AKSATIYNPV IYVFMNRQFR NCILQLFGKK VDDGSELSSA SKTEVSSVSS 


VSPA 

« Hide

References

« Hide 'large scale' references
[1]"Molecular genetics of human color vision: the genes encoding blue, green, and red pigments."
Nathans J., Thomas D., Hogness D.S.
Science 232:193-202(1986) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Tissue: Retinal cone cell.
[2]"The DNA sequence of the human X chromosome."
Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. expand/collapse author list , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"Molecular biology of the visual pigments."
Applebury M.L., Hargrave P.A.
Vision Res. 26:1881-1895(1986) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW.
[4]"Polymorphism in red photopigment underlies variation in colour matching."
Winderickx J., Lindsey D.T., Sanocki E., Teller D.Y., Motulsky A.G., Deeb S.S.
Nature 356:431-433(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ALA-180.
[5]"Genetic heterogeneity among blue-cone monochromats."
Nathans J., Maumenee I.H., Zrenner E., Sadowski B., Sharpe L.T., Lewis R.A., Hansen E., Rosenberg T., Schwartz M., Heckenlively J.R.
Am. J. Hum. Genet. 53:987-1000(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS BCM ARG-203 AND LEU-307.
[6]"Gene conversion between red and defective green opsin gene in blue cone monochromacy."
Reyniers E., Van Thienen M.N., Meire F., De Boulle K., Devries K., Kestelijn P., Willems P.J.
Genomics 29:323-328(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT BCM ARG-203.
[7]"Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies."
Ueyama H., Kuwayama S., Imai H., Tanabe S., Oda S., Nishida Y., Wada A., Shichida Y., Yamade S.
Biochem. Biophys. Res. Commun. 294:205-209(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CBP GLU-338.
+Additional computationally mapped references.

Web resources

Mutations of the color pigment genes

Retina International's Scientific Newsletter

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M13305 expand/collapse EMBL AC list , M13300, M13301, M13302, M13303, M13304 Genomic DNA. Translation: AAB59524.1.
Z68193 Genomic DNA. Translation: CAA92342.1.
PIROOHUR. A03157.
UniGeneHs.247787.
Hs.592247.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1KPXmodel-A1-364[»]
ProteinModelPortalP04000.
SMRP04000. Positions 21-359.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111889. 1 interaction.
STRING9606.ENSP00000358967.

Chemistry

ChEMBLCHEMBL1949482.

Protein family/group databases

TCDB9.A.14.1.1. the g-protein-coupled receptor (gpcr) family.
GPCRDBSearch...

Polymorphism databases

DMDM129219.

Proteomic databases

PaxDbP04000.
PRIDEP04000.

Protocols and materials databases

DNASU5956.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000369951; ENSP00000358967; ENSG00000102076.
UCSCuc004fjz.4. human.

Organism-specific databases

GeneCardsGC0XP153409.
H-InvDBHIX0203334.
HGNCHGNC:9936. OPN1LW.
MIM300822. gene.
303700. phenotype.
303900. phenotype.
neXtProtNX_P04000.
Orphanet16. Blue cone monochromatism.
1872. Cone rod dystrophy.
319691. Partial color blindness, protan type.
PharmGKBPA31936.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG240324.
HOGENOMHOG000253932.
HOVERGENHBG107442.
InParanoidP04000.
OMAMAEEWGK.
OrthoDBEOG72NRQJ.
PhylomeDBP04000.
TreeFamTF324998.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
REACT_116125. Disease.

Gene expression databases

BgeeP04000.
CleanExHS_OPN1LW.
GenevestigatorP04000.

Family and domain databases

Gene3D1.20.1070.10. 1 hit.
InterProIPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
IPR001760. Opsin.
IPR000378. Opsin_red/grn.
IPR027430. Retinal_BS.
[Graphical view]
PfamPF00001. 7tm_1. 1 hit.
[Graphical view]
PRINTSPR00237. GPCRRHODOPSN.
PR00238. OPSIN.
PR00575. OPSINREDGRN.
PROSITEPS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
PS00238. OPSIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSOPN1LW. human.
NextBio23196.
PROP04000.
SOURCESearch...

Entry information

Entry nameOPSR_HUMAN
AccessionPrimary (citable) accession number: P04000
Entry history
Integrated into UniProtKB/Swiss-Prot: October 23, 1986
Last sequence update: October 23, 1986
Last modified: April 16, 2014
This is version 148 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM

7-transmembrane G-linked receptors

List of 7-transmembrane G-linked receptor entries