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P04000

- OPSR_HUMAN

UniProt

P04000 - OPSR_HUMAN

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Protein

Long-wave-sensitive opsin 1

Gene
OPN1LW, RCP
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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

Absorptioni

Abs(max)=560 nm

GO - Molecular functioni

  1. G-protein coupled receptor activity Source: UniProtKB-KW
  2. photoreceptor activity Source: ProtInc

GO - Biological processi

  1. phototransduction, visible light Source: Reactome
  2. positive regulation of cytokinesis Source: UniProt
  3. protein-chromophore linkage Source: UniProtKB-KW
  4. retinoid metabolic process Source: Reactome
  5. signal transduction Source: ProtInc
  6. visual perception Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

G-protein coupled receptor, Photoreceptor protein, Receptor, Retinal protein, Transducer

Keywords - Biological processi

Sensory transduction, Vision

Keywords - Ligandi

Chromophore

Enzyme and pathway databases

ReactomeiREACT_160083. The retinoid cycle in cones (daylight vision).
REACT_160130. Retinoid cycle disease events.
REACT_18426. Opsins.
REACT_19231. G alpha (i) signalling events.

Protein family/group databases

TCDBi9.A.14.1.1. the g-protein-coupled receptor (gpcr) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Long-wave-sensitive opsin 1
Alternative name(s):
Red cone photoreceptor pigment
Red-sensitive opsin
Short name:
ROP
Gene namesi
Name:OPN1LW
Synonyms:RCP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:9936. OPN1LW.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 5252ExtracellularAdd
BLAST
Transmembranei53 – 7725Helical; Name=1; Reviewed predictionAdd
BLAST
Topological domaini78 – 8912CytoplasmicAdd
BLAST
Transmembranei90 – 11526Helical; Name=2; Reviewed predictionAdd
BLAST
Topological domaini116 – 12914ExtracellularAdd
BLAST
Transmembranei130 – 14920Helical; Name=3; Reviewed predictionAdd
BLAST
Topological domaini150 – 16819CytoplasmicAdd
BLAST
Transmembranei169 – 19224Helical; Name=4; Reviewed predictionAdd
BLAST
Topological domaini193 – 21826ExtracellularAdd
BLAST
Transmembranei219 – 24628Helical; Name=5; Reviewed predictionAdd
BLAST
Topological domaini247 – 26822CytoplasmicAdd
BLAST
Transmembranei269 – 29224Helical; Name=6; Reviewed predictionAdd
BLAST
Topological domaini293 – 3008Extracellular
Transmembranei301 – 32525Helical; Name=7; Reviewed predictionAdd
BLAST
Topological domaini326 – 36439CytoplasmicAdd
BLAST

GO - Cellular componenti

  1. integral component of plasma membrane Source: ProtInc
  2. photoreceptor outer segment membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti338 – 3381G → E in CBP. 1 Publication
VAR_064054
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.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti203 – 2031C → R in BCM. 2 Publications
VAR_009298
Natural varianti307 – 3071P → L in BCM. 1 Publication
VAR_009299

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi303700. phenotype.
303900. phenotype.
Orphaneti16. Blue cone monochromatism.
1872. Cone rod dystrophy.
319691. Partial color blindness, protan type.
PharmGKBiPA31936.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 364364Long-wave-sensitive opsin 1PRO_0000197802Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi34 – 341N-linked (GlcNAc...) Inferred
Disulfide bondi126 ↔ 203 Reviewed prediction
Modified residuei312 – 3121N6-(retinylidene)lysine

Post-translational modificationi

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

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiP04000.
PRIDEiP04000.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiP04000.
CleanExiHS_OPN1LW.
GenevestigatoriP04000.

Interactioni

Protein-protein interaction databases

BioGridi111889. 1 interaction.
STRINGi9606.ENSP00000358967.

Structurei

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1KPXmodel-A1-364[»]
ProteinModelPortaliP04000.
SMRiP04000. Positions 23-334.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG240324.
HOGENOMiHOG000253932.
HOVERGENiHBG107442.
InParanoidiP04000.
OMAiMAEEWGK.
OrthoDBiEOG72NRQJ.
PhylomeDBiP04000.
TreeFamiTF324998.

Family and domain databases

Gene3Di1.20.1070.10. 1 hit.
InterProiIPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
IPR001760. Opsin.
IPR000378. Opsin_red/grn.
IPR027430. Retinal_BS.
[Graphical view]
PfamiPF00001. 7tm_1. 1 hit.
[Graphical view]
PRINTSiPR00237. GPCRRHODOPSN.
PR00238. OPSIN.
PR00575. OPSINREDGRN.
PROSITEiPS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
PS00238. OPSIN. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P04000-1 [UniParc]FASTAAdd to Basket

« Hide

MAQQWSLQRL AGRHPQDSYE DSTQSSIFTY TNSNSTRGPF EGPNYHIAPR    50
WVYHLTSVWM IFVVTASVFT NGLVLAATMK FKKLRHPLNW ILVNLAVADL 100
AETVIASTIS IVNQVSGYFV LGHPMCVLEG YTVSLCGITG LWSLAIISWE 150
RWLVVCKPFG NVRFDAKLAI VGIAFSWIWS AVWTAPPIFG WSRYWPHGLK 200
TSCGPDVFSG SSYPGVQSYM IVLMVTCCII PLAIIMLCYL QVWLAIRAVA 250
KQQKESESTQ KAEKEVTRMV VVMIFAYCVC WGPYTFFACF AAANPGYAFH 300
PLMAALPAYF AKSATIYNPV IYVFMNRQFR NCILQLFGKK VDDGSELSSA 350
SKTEVSSVSS VSPA 364
Length:364
Mass (Da):40,572
Last modified:October 23, 1986 - v1
Checksum:iD9DACDC17BF20DB3
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti65 – 651T → I.
Corresponds to variant rs1065419 [ dbSNP | Ensembl ].
VAR_012009
Natural varianti111 – 1111I → V.
Corresponds to variant rs1065421 [ dbSNP | Ensembl ].
VAR_012010
Natural varianti116 – 1161S → Y.
Corresponds to variant rs1065422 [ dbSNP | Ensembl ].
VAR_012011
Natural varianti153 – 1531L → M.
Corresponds to variant rs713 [ dbSNP | Ensembl ].
VAR_012012
Natural varianti174 – 1741A → V.
Corresponds to variant rs731613 [ dbSNP | Ensembl ].
VAR_012013
Natural varianti180 – 1801S → A in 38% of the population. 1 Publication
Corresponds to variant rs949431 [ dbSNP | Ensembl ].
VAR_004842
Natural varianti203 – 2031C → R in BCM. 2 Publications
VAR_009298
Natural varianti230 – 2301I → T.
Corresponds to variant rs1065425 [ dbSNP | Ensembl ].
VAR_012014
Natural varianti274 – 2741I → V.
Corresponds to variant rs2315122 [ dbSNP | Ensembl ].
VAR_050612
Natural varianti298 – 2981A → P.
Corresponds to variant rs1065440 [ dbSNP | Ensembl ].
VAR_012015
Natural varianti307 – 3071P → L in BCM. 1 Publication
VAR_009299
Natural varianti309 – 3091Y → F.
Corresponds to variant rs1065441 [ dbSNP | Ensembl ].
VAR_012016
Natural varianti338 – 3381G → E in CBP. 1 Publication
VAR_064054

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M13305
, M13300, M13301, M13302, M13303, M13304 Genomic DNA. Translation: AAB59524.1.
Z68193 Genomic DNA. Translation: CAA92342.1.
CCDSiCCDS14742.1.
PIRiA03157. OOHUR.
UniGeneiHs.247787.
Hs.592247.

Genome annotation databases

EnsembliENST00000369951; ENSP00000358967; ENSG00000102076.
UCSCiuc004fjz.4. human.

Polymorphism databases

DMDMi129219.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Mutations of the color pigment genes

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M13305
, M13300 , M13301 , M13302 , M13303 , M13304 Genomic DNA. Translation: AAB59524.1 .
Z68193 Genomic DNA. Translation: CAA92342.1 .
CCDSi CCDS14742.1.
PIRi A03157. OOHUR.
UniGenei Hs.247787.
Hs.592247.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1KPX model - A 1-364 [» ]
ProteinModelPortali P04000.
SMRi P04000. Positions 23-334.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111889. 1 interaction.
STRINGi 9606.ENSP00000358967.

Chemistry

ChEMBLi CHEMBL1949482.

Protein family/group databases

TCDBi 9.A.14.1.1. the g-protein-coupled receptor (gpcr) family.
GPCRDBi Search...

Polymorphism databases

DMDMi 129219.

Proteomic databases

PaxDbi P04000.
PRIDEi P04000.

Protocols and materials databases

DNASUi 5956.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000369951 ; ENSP00000358967 ; ENSG00000102076 .
UCSCi uc004fjz.4. human.

Organism-specific databases

GeneCardsi GC0XP153409.
GeneReviewsi OPN1LW.
H-InvDB HIX0203334.
HGNCi HGNC:9936. OPN1LW.
MIMi 300822. gene.
303700. phenotype.
303900. phenotype.
neXtProti NX_P04000.
Orphaneti 16. Blue cone monochromatism.
1872. Cone rod dystrophy.
319691. Partial color blindness, protan type.
PharmGKBi PA31936.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG240324.
HOGENOMi HOG000253932.
HOVERGENi HBG107442.
InParanoidi P04000.
OMAi MAEEWGK.
OrthoDBi EOG72NRQJ.
PhylomeDBi P04000.
TreeFami TF324998.

Enzyme and pathway databases

Reactomei REACT_160083. The retinoid cycle in cones (daylight vision).
REACT_160130. Retinoid cycle disease events.
REACT_18426. Opsins.
REACT_19231. G alpha (i) signalling events.

Miscellaneous databases

ChiTaRSi OPN1LW. human.
NextBioi 23196.
PROi P04000.
SOURCEi Search...

Gene expression databases

Bgeei P04000.
CleanExi HS_OPN1LW.
Genevestigatori P04000.

Family and domain databases

Gene3Di 1.20.1070.10. 1 hit.
InterProi IPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
IPR001760. Opsin.
IPR000378. Opsin_red/grn.
IPR027430. Retinal_BS.
[Graphical view ]
Pfami PF00001. 7tm_1. 1 hit.
[Graphical view ]
PRINTSi PR00237. GPCRRHODOPSN.
PR00238. OPSIN.
PR00575. OPSINREDGRN.
PROSITEi PS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
PS00238. OPSIN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.

Entry informationi

Entry nameiOPSR_HUMAN
AccessioniPrimary (citable) accession number: P04000
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 23, 1986
Last sequence update: October 23, 1986
Last modified: September 3, 2014
This is version 151 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. 7-transmembrane G-linked receptors
    List of 7-transmembrane G-linked receptor entries
  2. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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