OPSR_HUMAN
ID OPSR_HUMAN Reviewed; 364 AA.
AC P04000;
DT 23-OCT-1986, integrated into UniProtKB/Swiss-Prot.
DT 23-FEB-2022, sequence version 2.
DT 03-AUG-2022, entry version 201.
DE RecName: Full=Long-wave-sensitive opsin 1;
DE AltName: Full=Red cone photoreceptor pigment;
DE AltName: Full=Red-sensitive opsin;
DE Short=ROP;
GN Name=OPN1LW; Synonyms=RCP;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS LEU-153 AND SER-180.
RC TISSUE=Retinal cone cell;
RX PubMed=2937147; DOI=10.1126/science.2937147;
RA Nathans J., Thomas D., Hogness D.S.;
RT "Molecular genetics of human color vision: the genes encoding blue, green,
RT and red pigments.";
RL Science 232:193-202(1986).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS LEU-153 AND
RP SER-180.
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [3]
RP REVIEW.
RX PubMed=3303660; DOI=10.1016/0042-6989(86)90115-x;
RA Applebury M.L., Hargrave P.A.;
RT "Molecular biology of the visual pigments.";
RL Vision Res. 26:1881-1895(1986).
RN [4]
RP VARIANT SER-180.
RX PubMed=1557123; DOI=10.1038/356431a0;
RA Winderickx J., Lindsey D.T., Sanocki E., Teller D.Y., Motulsky A.G.,
RA Deeb S.S.;
RT "Polymorphism in red photopigment underlies variation in colour matching.";
RL Nature 356:431-433(1992).
RN [5]
RP VARIANTS BCM ARG-203 AND LEU-307.
RX PubMed=8213841;
RA Nathans J., Maumenee I.H., Zrenner E., Sadowski B., Sharpe L.T.,
RA Lewis R.A., Hansen E., Rosenberg T., Schwartz M., Heckenlively J.R.;
RT "Genetic heterogeneity among blue-cone monochromats.";
RL Am. J. Hum. Genet. 53:987-1000(1993).
RN [6]
RP VARIANT BCM ARG-203.
RX PubMed=8666378; DOI=10.1006/geno.1995.9998;
RA Reyniers E., Van Thienen M.N., Meire F., De Boulle K., Devries K.,
RA Kestelijn P., Willems P.J.;
RT "Gene conversion between red and defective green opsin gene in blue cone
RT monochromacy.";
RL Genomics 29:323-328(1995).
RN [7]
RP VARIANT CBP GLU-338.
RX PubMed=12051694; DOI=10.1016/s0006-291x(02)00458-8;
RA Ueyama H., Kuwayama S., Imai H., Tanabe S., Oda S., Nishida Y., Wada A.,
RA Shichida Y., Yamade S.;
RT "Novel missense mutations in red/green opsin genes in congenital color-
RT vision deficiencies.";
RL Biochem. Biophys. Res. Commun. 294:205-209(2002).
CC -!- FUNCTION: Visual pigments are the light-absorbing molecules that
CC mediate vision. They consist of an apoprotein, opsin, covalently linked
CC to cis-retinal.
CC -!- BIOPHYSICOCHEMICAL PROPERTIES:
CC Absorption:
CC Abs(max)=560 nm;
CC -!- INTERACTION:
CC P04000; Q8IXM6: NRM; NbExp=3; IntAct=EBI-13294781, EBI-10262547;
CC P04000; A5PKU2: TUSC5; NbExp=3; IntAct=EBI-13294781, EBI-11988865;
CC -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
CC -!- TISSUE SPECIFICITY: The three color pigments are found in the cone
CC photoreceptor cells.
CC -!- PTM: Phosphorylated on some or all of the serine and threonine residues
CC present in the C-terminal region.
CC -!- DISEASE: Colorblindness, partial, protan series (CBP) [MIM:303900]: A
CC color vision defect characterized by a dichromasy in which red and
CC green are confused, with loss of luminance and shift of brightness and
CC hue curves toward the short wave end of the spectrum. Dichromasy is due
CC to the use of only two types of photoreceptors, blue plus red in
CC deuteranopia and blue plus green in protanopia.
CC {ECO:0000269|PubMed:12051694}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Blue cone monochromacy (BCM) [MIM:303700]: A rare X-linked
CC congenital stationary cone dysfunction syndrome characterized by the
CC absence of functional long wavelength-sensitive and medium wavelength-
CC sensitive cones in the retina. Color discrimination is severely
CC impaired from birth, and vision is derived from the remaining preserved
CC blue (S) cones and rod photoreceptors. BCM typically presents with
CC reduced visual acuity, pendular nystagmus, and photophobia. Patients
CC often have myopia. {ECO:0000269|PubMed:8213841,
CC ECO:0000269|PubMed:8666378}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the G-protein coupled receptor 1 family. Opsin
CC subfamily. {ECO:0000255|PROSITE-ProRule:PRU00521}.
CC -!- WEB RESOURCE: Name=Mutations of the color pigment genes; Note=Retina
CC International's Scientific Newsletter;
CC URL="https://www.retina-international.org/files/sci-news/cppmut.htm";
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DR EMBL; M13305; AAB59524.1; -; Genomic_DNA.
DR EMBL; M13300; AAB59524.1; JOINED; Genomic_DNA.
DR EMBL; M13301; AAB59524.1; JOINED; Genomic_DNA.
DR EMBL; M13302; AAB59524.1; JOINED; Genomic_DNA.
DR EMBL; M13303; AAB59524.1; JOINED; Genomic_DNA.
DR EMBL; M13304; AAB59524.1; JOINED; Genomic_DNA.
DR EMBL; Z68193; CAA92342.1; -; Genomic_DNA.
DR CCDS; CCDS14742.1; -.
DR PIR; A03157; OOHUR.
DR AlphaFoldDB; P04000; -.
DR IntAct; P04000; 2.
DR STRING; 9606.ENSP00000358967; -.
DR ChEMBL; CHEMBL1949482; -.
DR TCDB; 9.A.14.1.1; the g-protein-coupled receptor (gpcr) family.
DR GlyGen; P04000; 2 sites.
DR BioMuta; OPN1LW; -.
DR DMDM; 129219; -.
DR MassIVE; P04000; -.
DR PaxDb; P04000; -.
DR PeptideAtlas; P04000; -.
DR PRIDE; P04000; -.
DR Antibodypedia; 64269; 43 antibodies from 9 providers.
DR DNASU; 5956; -.
DR Ensembl; ENST00000369951.9; ENSP00000358967.4; ENSG00000102076.10.
DR MANE-Select; ENST00000369951.9; ENSP00000358967.4; NM_020061.6; NP_064445.2.
DR UCSC; uc033fax.1; human.
DR GeneCards; OPN1LW; -.
DR HGNC; HGNC:9936; OPN1LW.
DR HPA; ENSG00000102076; Tissue enriched (retina).
DR MalaCards; OPN1LW; -.
DR MIM; 300822; gene.
DR MIM; 303700; phenotype.
DR MIM; 303900; phenotype.
DR neXtProt; NX_P04000; -.
DR OpenTargets; ENSG00000102076; -.
DR Orphanet; 16; Blue cone monochromatism.
DR Orphanet; 1872; Cone rod dystrophy.
DR Orphanet; 319691; NON RARE IN EUROPE: Partial color blindness, protan type.
DR Orphanet; 90001; X-linked cone dysfunction syndrome with myopia.
DR PharmGKB; PA31936; -.
DR VEuPathDB; HostDB:ENSG00000102076; -.
DR eggNOG; KOG3656; Eukaryota.
DR GeneTree; ENSGT01030000234549; -.
DR HOGENOM; CLU_009579_3_0_1; -.
DR InParanoid; P04000; -.
DR OrthoDB; 940057at2759; -.
DR PhylomeDB; P04000; -.
DR TreeFam; TF324998; -.
DR PathwayCommons; P04000; -.
DR Reactome; R-HSA-2187335; The retinoid cycle in cones (daylight vision).
DR Reactome; R-HSA-2453864; Retinoid cycle disease events.
DR Reactome; R-HSA-418594; G alpha (i) signalling events.
DR Reactome; R-HSA-419771; Opsins.
DR SignaLink; P04000; -.
DR ChiTaRS; OPN1LW; human.
DR Pharos; P04000; Tbio.
DR PRO; PR:P04000; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; P04000; protein.
DR Bgee; ENSG00000102076; Expressed in ganglionic eminence and 9 other tissues.
DR ExpressionAtlas; P04000; baseline and differential.
DR Genevisible; P04000; HS.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:0097381; C:photoreceptor disc membrane; TAS:Reactome.
DR GO; GO:0001750; C:photoreceptor outer segment; IBA:GO_Central.
DR GO; GO:0008020; F:G protein-coupled photoreceptor activity; IBA:GO_Central.
DR GO; GO:0009881; F:photoreceptor activity; IMP:CACAO.
DR GO; GO:0071482; P:cellular response to light stimulus; IBA:GO_Central.
DR GO; GO:0007186; P:G protein-coupled receptor signaling pathway; IBA:GO_Central.
DR GO; GO:0007602; P:phototransduction; IBA:GO_Central.
DR GO; GO:0032467; P:positive regulation of cytokinesis; IMP:UniProtKB.
DR GO; GO:0007165; P:signal transduction; TAS:ProtInc.
DR GO; GO:0007601; P:visual perception; TAS:ProtInc.
DR InterPro; IPR000276; GPCR_Rhodpsn.
DR InterPro; IPR017452; GPCR_Rhodpsn_7TM.
DR InterPro; IPR001760; Opsin.
DR InterPro; IPR000378; Opsin_red/grn.
DR InterPro; IPR027430; Retinal_BS.
DR Pfam; PF00001; 7tm_1; 1.
DR PRINTS; PR00237; GPCRRHODOPSN.
DR PRINTS; PR00238; OPSIN.
DR PRINTS; PR00575; OPSINREDGRN.
DR PROSITE; PS00237; G_PROTEIN_RECEP_F1_1; 1.
DR PROSITE; PS50262; G_PROTEIN_RECEP_F1_2; 1.
DR PROSITE; PS00238; OPSIN; 1.
PE 1: Evidence at protein level;
KW Chromophore; Disease variant; Disulfide bond; G-protein coupled receptor;
KW Glycoprotein; Membrane; Phosphoprotein; Photoreceptor protein; Receptor;
KW Reference proteome; Retinal protein; Sensory transduction; Transducer;
KW Transmembrane; Transmembrane helix; Vision.
FT CHAIN 1..364
FT /note="Long-wave-sensitive opsin 1"
FT /id="PRO_0000197802"
FT TOPO_DOM 1..52
FT /note="Extracellular"
FT TRANSMEM 53..77
FT /note="Helical; Name=1"
FT /evidence="ECO:0000255"
FT TOPO_DOM 78..89
FT /note="Cytoplasmic"
FT TRANSMEM 90..115
FT /note="Helical; Name=2"
FT /evidence="ECO:0000255"
FT TOPO_DOM 116..129
FT /note="Extracellular"
FT TRANSMEM 130..149
FT /note="Helical; Name=3"
FT /evidence="ECO:0000255"
FT TOPO_DOM 150..168
FT /note="Cytoplasmic"
FT TRANSMEM 169..192
FT /note="Helical; Name=4"
FT /evidence="ECO:0000255"
FT TOPO_DOM 193..218
FT /note="Extracellular"
FT TRANSMEM 219..246
FT /note="Helical; Name=5"
FT /evidence="ECO:0000255"
FT TOPO_DOM 247..268
FT /note="Cytoplasmic"
FT TRANSMEM 269..292
FT /note="Helical; Name=6"
FT /evidence="ECO:0000255"
FT TOPO_DOM 293..300
FT /note="Extracellular"
FT TRANSMEM 301..325
FT /note="Helical; Name=7"
FT /evidence="ECO:0000255"
FT TOPO_DOM 326..364
FT /note="Cytoplasmic"
FT REGION 1..23
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 312
FT /note="N6-(retinylidene)lysine"
FT CARBOHYD 22
FT /note="O-linked (GlcNAc) serine"
FT /evidence="ECO:0000250|UniProtKB:Q9BGI7"
FT CARBOHYD 34
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00498"
FT DISULFID 126..203
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00521"
FT VARIANT 111
FT /note="I -> V (in dbSNP:rs1065421)"
FT /id="VAR_012010"
FT VARIANT 116
FT /note="S -> Y (in dbSNP:rs1065422)"
FT /id="VAR_012011"
FT VARIANT 153
FT /note="M -> L (in dbSNP:rs713)"
FT /evidence="ECO:0000269|PubMed:15772651,
FT ECO:0000269|PubMed:2937147"
FT /id="VAR_012012"
FT VARIANT 180
FT /note="A -> S (in 62% of the population;
FT dbSNP:rs1557157655)"
FT /evidence="ECO:0000269|PubMed:1557123,
FT ECO:0000269|PubMed:15772651, ECO:0000269|PubMed:2937147"
FT /id="VAR_004842"
FT VARIANT 203
FT /note="C -> R (in BCM; dbSNP:rs121434621)"
FT /evidence="ECO:0000269|PubMed:8213841,
FT ECO:0000269|PubMed:8666378"
FT /id="VAR_009298"
FT VARIANT 230
FT /note="I -> T (in dbSNP:rs148583295)"
FT /id="VAR_012014"
FT VARIANT 274
FT /note="I -> V (in dbSNP:rs2315122)"
FT /id="VAR_050612"
FT VARIANT 298
FT /note="A -> P (in dbSNP:rs1065440)"
FT /id="VAR_012015"
FT VARIANT 307
FT /note="P -> L (in BCM; dbSNP:rs782797093)"
FT /evidence="ECO:0000269|PubMed:8213841"
FT /id="VAR_009299"
FT VARIANT 338
FT /note="G -> E (in CBP; dbSNP:rs104894913)"
FT /evidence="ECO:0000269|PubMed:12051694"
FT /id="VAR_064054"
SQ SEQUENCE 364 AA; 40574 MW; 730367A9CA3AB7D0 CRC64;
MAQQWSLQRL AGRHPQDSYE DSTQSSIFTY TNSNSTRGPF EGPNYHIAPR WVYHLTSVWM
IFVVTASVFT NGLVLAATMK FKKLRHPLNW ILVNLAVADL AETVIASTIS IVNQVSGYFV
LGHPMCVLEG YTVSLCGITG LWSLAIISWE RWMVVCKPFG NVRFDAKLAI VGIAFSWIWA
AVWTAPPIFG WSRYWPHGLK TSCGPDVFSG SSYPGVQSYM IVLMVTCCII PLAIIMLCYL
QVWLAIRAVA KQQKESESTQ KAEKEVTRMV VVMIFAYCVC WGPYTFFACF AAANPGYAFH
PLMAALPAYF AKSATIYNPV IYVFMNRQFR NCILQLFGKK VDDGSELSSA SKTEVSSVSS
VSPA
