| 1: P04000. Reports Red-sensitive ops...[gi:129219] | BLink, Conserved Domains, Links |
LOCUS P04000 364 aa linear PRI 02-OCT-2007 DEFINITION Red-sensitive opsin (Red cone photoreceptor pigment). ACCESSION P04000 VERSION P04000 GI:129219 DBSOURCE swissprot: locus OPSR_HUMAN, accession P04000.1 release reviewed; class: standard. created: Oct 23, 1986. sequence updated: Oct 23, 1986. annotation updated: Oct 2, 2007. xrefs: M13305.1, AAB59524.1, M13300.1, M13301.1, M13302.1, M13303.1, M13304.1, Z68193.1, CAA92342.1, OOHUR, 1KPX_A xrefs (non-sequence databases): RefSeq:NP_064445.1, UniGene:Hs.592247, Ensembl:ENSG00000102076, GeneID:5956, KEGG:hsa:5956, HGNC:9936, MIM: 303900, Orphanet:16, PharmGKB:PA31936, GermOnline:ENSG00000102076, GO:0005887, GO:0009881, GO:0007165, GO:0007601, InterPro:IPR000276, InterPro:IPR001760, InterPro:IPR000378, Pfam:PF00001, PRINTS:PR00237, PRINTS:PR00238, PRINTS:PR00575, PROSITE:PS00237, PROSITE:PS50262, PROSITE:PS00238 KEYWORDS 3D-structure; Chromophore; Disease mutation; G-protein coupled receptor; Glycoprotein; Membrane; Phosphorylation; Photoreceptor protein; Polymorphism; Receptor; Retinal protein; Sensory transduction; Transducer; Transmembrane; Vision. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (residues 1 to 364) AUTHORS Nathans,J., Thomas,D. and Hogness,D.S. TITLE Molecular genetics of human color vision: the genes encoding blue, green, and red pigments JOURNAL Science 232 (4747), 193-202 (1986) PUBMED 2937147 REMARK NUCLEOTIDE SEQUENCE [GENOMIC DNA]. TISSUE=Retinal cone cell REFERENCE 2 (residues 1 to 364) AUTHORS 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., Glockner,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., Muller,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., Hubbard,T., Gibbs,R.A., Beck,S., Rogers,J. and Bentley,D.R. TITLE The DNA sequence of the human X chromosome JOURNAL Nature 434 (7031), 325-337 (2005) PUBMED 15772651 REMARK NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. REFERENCE 3 (residues 1 to 364) AUTHORS Applebury,M.L. and Hargrave,P.A. TITLE Molecular biology of the visual pigments JOURNAL Vision Res. 26 (12), 1881-1895 (1986) PUBMED 3303660 REMARK REVIEW. REFERENCE 4 (residues 1 to 364) AUTHORS Winderickx,J., Lindsey,D.T., Sanocki,E., Teller,D.Y., Motulsky,A.G. and Deeb,S.S. TITLE Polymorphism in red photopigment underlies variation in colour matching JOURNAL Nature 356 (6368), 431-433 (1992) PUBMED 1557123 REMARK VARIANT ALA-180. REFERENCE 5 (residues 1 to 364) AUTHORS Nathans,J., Maumenee,I.H., Zrenner,E., Sadowski,B., Sharpe,L.T., Lewis,R.A., Hansen,E., Rosenberg,T., Schwartz,M., Heckenlively,J.R. et al. TITLE Genetic heterogeneity among blue-cone monochromats JOURNAL Am. J. Hum. Genet. 53 (5), 987-1000 (1993) PUBMED 8213841 REMARK VARIANTS CBP ARG-203 AND LEU-307. COMMENT On Mar 15, 2005 this sequence version replaced gi:71932. [FUNCTION] Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal. [BIOPHYSICOCHEMICAL PROPERTIES] Absorption: Abs(max)=560 nm. [SUBCELLULAR LOCATION] Membrane; Multi-pass membrane protein. [TISSUE SPECIFICITY] The three color pigments are found in the cone photoreceptor cells. [PTM] Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region. [DISEASE] Defects in OPN1LW are the cause of partial colorblindness protan series (CBP) [MIM:303900]; also called protanopia. [SIMILARITY] Belongs to the G-protein coupled receptor 1 family. Opsin subfamily. [WEB RESOURCE] Name=Mutations of the color pigment genes; Note=Retina International's Scientific Newsletter; URL='http://www.retina-international.com/sci-news/cppmut.htm'. [WEB RESOURCE] Name=GeneReviews; URL='http://www.genetests.org/query?gene=OPN1LW'. FEATURES Location/Qualifiers source 1..364 /organism="Homo sapiens" /db_xref="taxon:9606" gene 1..364 /gene="OPN1LW" /note="synonym: RCP" Protein 1..364 /gene="OPN1LW" /product="Red-sensitive opsin" Region 1..364 /gene="OPN1LW" /region_name="Mature chain" /experiment="experimental evidence, no additional details recorded" /note="Red-sensitive opsin. /FTId=PRO_0000197802." Region 1..52 /gene="OPN1LW" /region_name="Topological domain" /experiment="experimental evidence, no additional details recorded" /note="Extracellular." Region 7..12 /gene="OPN1LW" /region_name="Beta-strand region" /experiment="experimental evidence, no additional details recorded" Region 21..23 /gene="OPN1LW" /region_name="Beta-strand region" /experiment="experimental evidence, no additional details recorded" Region 25..29 /gene="OPN1LW" /region_name="Beta-strand region" /experiment="experimental evidence, no additional details recorded" Region 32..34 /gene="OPN1LW" /region_name="Hydrogen bonded turn" /experiment="experimental evidence, no additional details recorded" Site 34 /gene="OPN1LW" /site_type="glycosylation" /inference="non-experimental evidence, no additional details recorded" /note="N-linked (GlcNAc...) (Probable)." Region 39..41 /gene="OPN1LW" /region_name="Hydrogen bonded turn" /experiment="experimental evidence, no additional details recorded" Region 45..47 /gene="OPN1LW" /region_name="Hydrogen bonded turn" /experiment="experimental evidence, no additional details recorded" Region 50..80 /gene="OPN1LW" /region_name="Helical region" /experiment="experimental evidence, no additional details recorded" Region 53..77 /gene="OPN1LW" /region_name="Transmembrane region" /inference="non-experimental evidence, no additional details recorded" /note="1 (Potential)." Region 65 /gene="OPN1LW" /region_name="Variant" /experiment="experimental evidence, no additional details recorded" /note="T -> I (in dbSNP:rs1065419). /FTId=VAR_012009." Region 71..322 /gene="OPN1LW" /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family). This family contains, amongst other G-protein-coupled receptors (GCPRs), members of the opsin family, which have been considered to be typical members of the rhodopsin superfamily; pfam00001" /db_xref="CDD:84429" Region 78..89 /gene="OPN1LW" /region_name="Topological domain" /experiment="experimental evidence, no additional details recorded" /note="Cytoplasmic." Region 82..85 /gene="OPN1LW" /region_name="Hydrogen bonded turn" /experiment="experimental evidence, no additional details recorded" Region 87..116 /gene="OPN1LW" /region_name="Helical region" /experiment="experimental evidence, no additional details recorded" Region 90..115 /gene="OPN1LW" /region_name="Transmembrane region" /inference="non-experimental evidence, no additional details recorded" /note="2 (Potential)." Region 111 /gene="OPN1LW" /region_name="Variant" /experiment="experimental evidence, no additional details recorded" /note="I -> V (in dbSNP:rs1065421). /FTId=VAR_012010." Region 116..129 /gene="OPN1LW" /region_name="Topological domain" /experiment="experimental evidence, no additional details recorded" /note="Extracellular." Region 116 /gene="OPN1LW" /region_name="Variant" /experiment="experimental evidence, no additional details recorded" /note="S -> Y (in dbSNP:rs1065422). /FTId=VAR_012011." Region 123..156 /gene="OPN1LW" /region_name="Helical region" /experiment="experimental evidence, no additional details recorded" Bond bond(126,203) /gene="OPN1LW" /bond_type="disulfide" /inference="non-experimental evidence, no additional details recorded" /note="Potential." Region 130..149 /gene="OPN1LW" /region_name="Transmembrane region" /inference="non-experimental evidence, no additional details recorded" /note="3 (Potential)." Region 150..168 /gene="OPN1LW" /region_name="Topological domain" /experiment="experimental evidence, no additional details recorded" /note="Cytoplasmic." Region 153 /gene="OPN1LW" /region_name="Variant" /experiment="experimental evidence, no additional details recorded" /note="L -> M (in dbSNP:rs713). /FTId=VAR_012012." Region 159..161 /gene="OPN1LW" /region_name="Beta-strand region" /experiment="experimental evidence, no additional details recorded" Region 166..184 /gene="OPN1LW" /region_name="Helical region" /experiment="experimental evidence, no additional details recorded" Region 169..192 /gene="OPN1LW" /region_name="Transmembrane region" /inference="non-experimental evidence, no additional details recorded" /note="4 (Potential)." Region 174 /gene="OPN1LW" /region_name="Variant" /experiment="experimental evidence, no additional details recorded" /note="A -> V (in dbSNP:rs731613). /FTId=VAR_012013." Region 180 /gene="OPN1LW" /region_name="Variant" /experiment="experimental evidence, no additional details recorded" /note="S -> A (in 38% of the population; dbSNP:rs949431). /FTId=VAR_004842." Region 186..189 /gene="OPN1LW" /region_name="Helical region" /experiment="experimental evidence, no additional details recorded" Region 193..218 /gene="OPN1LW" /region_name="Topological domain" /experiment="experimental evidence, no additional details recorded" /note="Extracellular." Region 194..197 /gene="OPN1LW" /region_name="Beta-strand region" /experiment="experimental evidence, no additional details recorded" Region 198..201 /gene="OPN1LW" /region_name="Hydrogen bonded turn" /experiment="experimental evidence, no additional details recorded" Region 202..205 /gene="OPN1LW" /region_name="Beta-strand region" /experiment="experimental evidence, no additional details recorded" Region 203 /gene="OPN1LW" /region_name="Variant" /experiment="experimental evidence, no additional details recorded" /note="C -> R (in CBP). /FTId=VAR_009298." Region 212..215 /gene="OPN1LW" /region_name="Hydrogen bonded turn" /experiment="experimental evidence, no additional details recorded" Region 216..225 /gene="OPN1LW" /region_name="Helical region" /experiment="experimental evidence, no additional details recorded" Region 219..246 /gene="OPN1LW" /region_name="Transmembrane region" /inference="non-experimental evidence, no additional details recorded" /note="5 (Potential)." Region 226..228 /gene="OPN1LW" /region_name="Hydrogen bonded turn" /experiment="experimental evidence, no additional details recorded" Region 229..245 /gene="OPN1LW" /region_name="Helical region" /experiment="experimental evidence, no additional details recorded" Region 230 /gene="OPN1LW" /region_name="Variant" /experiment="experimental evidence, no additional details recorded" /note="I -> T (in dbSNP:rs1065425). /FTId=VAR_012014." Region 247..268 /gene="OPN1LW" /region_name="Topological domain" /experiment="experimental evidence, no additional details recorded" /note="Cytoplasmic." Region 259..293 /gene="OPN1LW" /region_name="Helical region" /experiment="experimental evidence, no additional details recorded" Region 269..292 /gene="OPN1LW" /region_name="Transmembrane region" /inference="non-experimental evidence, no additional details recorded" /note="6 (Potential)." Region 293..300 /gene="OPN1LW" /region_name="Topological domain" /experiment="experimental evidence, no additional details recorded" /note="Extracellular." Region 298 /gene="OPN1LW" /region_name="Variant" /experiment="experimental evidence, no additional details recorded" /note="A -> P (in dbSNP:rs1065440). /FTId=VAR_012015." Region 301..325 /gene="OPN1LW" /region_name="Transmembrane region" /inference="non-experimental evidence, no additional details recorded" /note="7 (Potential)." Region 301..311 /gene="OPN1LW" /region_name="Helical region" /experiment="experimental evidence, no additional details recorded" Region 307 /gene="OPN1LW" /region_name="Variant" /experiment="experimental evidence, no additional details recorded" /note="P -> L (in CBP). /FTId=VAR_009299." Region 309 /gene="OPN1LW" /region_name="Variant" /experiment="experimental evidence, no additional details recorded" /note="Y -> F (in dbSNP:rs1065441). /FTId=VAR_012016." Site 312 /gene="OPN1LW" /site_type="binding" /experiment="experimental evidence, no additional details recorded" /note="Retinal chromophore (covalent)." Region 314..325 /gene="OPN1LW" /region_name="Helical region" /experiment="experimental evidence, no additional details recorded" Region 326..364 /gene="OPN1LW" /region_name="Topological domain" /experiment="experimental evidence, no additional details recorded" /note="Cytoplasmic." Region 327..336 /gene="OPN1LW" /region_name="Helical region" /experiment="experimental evidence, no additional details recorded" Region 352..356 /gene="OPN1LW" /region_name="Beta-strand region" /experiment="experimental evidence, no additional details recorded" Region 357..359 /gene="OPN1LW" /region_name="Hydrogen bonded turn" /experiment="experimental evidence, no additional details recorded" ORIGIN 1 maqqwslqrl agrhpqdsye dstqssifty tnsnstrgpf egpnyhiapr wvyhltsvwm 61 ifvvtasvft nglvlaatmk fkklrhplnw ilvnlavadl aetviastis ivnqvsgyfv 121 lghpmcvleg ytvslcgitg lwslaiiswe rwlvvckpfg nvrfdaklai vgiafswiws 181 avwtappifg wsrywphglk tscgpdvfsg ssypgvqsym ivlmvtccii plaiimlcyl 241 qvwlairava kqqkesestq kaekevtrmv vvmifaycvc wgpytffacf aaanpgyafh 301 plmaalpayf aksatiynpv iyvfmnrqfr ncilqlfgkk vddgselssa sktevssvss 361 vspa //
Aug 28 2007 16:53:42