ID OPSD_HUMAN Reviewed; 348 AA. AC P08100; Q16414; Q2M249; DT 01-AUG-1988, integrated into UniProtKB/Swiss-Prot. DT 01-AUG-1988, sequence version 1. DT 29-MAY-2013, entry version 154. DE RecName: Full=Rhodopsin; DE AltName: Full=Opsin-2; GN Name=RHO; Synonyms=OPN2; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RX PubMed=6589631; DOI=10.1073/pnas.81.15.4851; RA Nathans J., Hogness D.S.; RT "Isolation and nucleotide sequence of the gene encoding human RT rhodopsin."; RL Proc. Natl. Acad. Sci. U.S.A. 81:4851-4855(1984). RN [2] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RA Suwa M., Sato T., Okouchi I., Arita M., Futami K., Matsumoto S., RA Tsutsumi S., Aburatani H., Asai K., Akiyama Y.; RT "Genome-wide discovery and analysis of human seven transmembrane helix RT receptor genes."; RL Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases. RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Retina; RX PubMed=17974005; DOI=10.1186/1471-2164-8-399; RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.; RT "The full-ORF clone resource of the German cDNA consortium."; RL BMC Genomics 8:399-399(2007). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [5] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-120. RX PubMed=8566799; DOI=10.1016/0378-1119(95)00688-5; RA Bennett J., Beller B., Sun D., Kariko K.; RT "Sequence analysis of the 5.34-kb 5' flanking region of the human RT rhodopsin-encoding gene."; RL Gene 167:317-320(1995). RN [6] RP REVIEW ON RP4 VARIANTS. RX PubMed=8401533; DOI=10.1002/humu.1380020403; RA Al-Maghtheh M., Gregory C., Inglehearn C., Hardcastle A., RA Bhattacharya S.; RT "Rhodopsin mutations in autosomal dominant retinitis pigmentosa."; RL Hum. Mutat. 2:249-255(1993). RN [7] RP VARIANTS RP4. RX PubMed=2239971; RA Farrar G.J., Kenna P., Redmond R., McWilliam P., Bradley D.G., RA Humphries M.M., Sharp E.M., Inglehearn C.F., Bashir R., Jay M., RA Watty A., Ludwig M., Schinzel A., Samanns C., Gal A., RA Bhattacharya S.S., Humphries P.; RT "Autosomal dominant retinitis pigmentosa: absence of the rhodopsin RT proline-->histidine substitution (codon 23) in pedigrees from RT Europe."; RL Am. J. Hum. Genet. 47:941-945(1990). RN [8] RP VARIANT RP4 HIS-23. RX PubMed=2137202; DOI=10.1038/343364a0; RA Dryja T.P., McGee T.L., Reichei E., Hahn L.B., Cowley G.S., RA Yandell D.W., Sandberg M.A., Berson E.L.; RT "A point mutation of the rhodopsin gene in one form of retinitis RT pigmentosa."; RL Nature 343:364-366(1990). RN [9] RP VARIANTS RP4 HIS-23; ARG-58; LEU-347 AND SER-347. RX PubMed=2215617; RA Dryja T.P., McGee T.L., Hahn L.B., Cowley G.S., Olsson J.E., RA Reichel E., Sandberg M.A., Berson E.L.; RT "Mutations within the rhodopsin gene in patients with autosomal RT dominant retinitis pigmentosa."; RL N. Engl. J. Med. 323:1302-1307(1990). RN [10] RP VARIANT RP4 ILE-255 DEL. RX PubMed=1985460; RA Inglehearn C.F., Bashir R., Lester D.H., Jay M., Bird A.C., RA Bhattacharya S.S.; RT "A 3-bp deletion in the rhodopsin gene in a family with autosomal RT dominant retinitis pigmentosa."; RL Am. J. Hum. Genet. 48:26-30(1991). RN [11] RP VARIANTS RP4 MET-17; HIS-23; ARG-58; SER-182 AND LEU-267. RX PubMed=1897520; RA Sheffield V.C., Fishman G.A., Beck J.S., Kimura A.E., Stone E.M.; RT "Identification of novel rhodopsin mutations associated with retinitis RT pigmentosa by GC-clamped denaturing gradient gel electrophoresis."; RL Am. J. Hum. Genet. 49:699-706(1991). RN [12] RP VARIANT RP4 ARG-347. RX PubMed=1840561; RA Gal A., Artlich A., Ludwig M., Niemeyer G., Olek K., Schwinger E., RA Schinzel A.; RT "Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant RT retinitis pigmentosa."; RL Genomics 11:468-470(1991). RN [13] RP VARIANTS RP4. RX PubMed=1862076; DOI=10.1073/pnas.88.15.6481; RA Sung C.H., Davenport C.M., Hennessey J.C., Maumenee I.H., RA Jacobson S.G., Heckenlively J.R., Nowakowski R., Fishman G., RA Gouras P., Nathans J.; RT "Rhodopsin mutations in autosomal dominant retinitis pigmentosa."; RL Proc. Natl. Acad. Sci. U.S.A. 88:6481-6485(1991). RN [14] RP VARIANTS RP4. RX PubMed=1833777; DOI=10.1073/pnas.88.20.9370; RA Dryja T.P., Hahn L.B., Cowley G.S., McGee T.L., Berson E.L.; RT "Mutation spectrum of the rhodopsin gene among patients with autosomal RT dominant retinitis pigmentosa."; RL Proc. Natl. Acad. Sci. U.S.A. 88:9370-9374(1991). RN [15] RP VARIANT RP4 ARG-207. RX PubMed=1302614; DOI=10.1093/hmg/1.9.769; RA Farrar G.J., Findlay J.B.C., Kumar-Singh R., Kenna P., Humphries M.M., RA Sharpe E., Humphries P.; RT "Autosomal dominant retinitis pigmentosa: a novel mutation in the RT rhodopsin gene in the original 3q linked family."; RL Hum. Mol. Genet. 1:769-771(1992). RN [16] RP VARIANTS RP4 MET-17 AND LEU-347. RX PubMed=1391967; DOI=10.1007/BF01899733; RA Fujiki K., Hotta Y., Hayakawa M., Sakuma H., Shiono T., Noro M., RA Sakuma T., Tamai M., Hikiji K., Kawaguchi R., Hoshi A., Nakajima A., RA Kanai A.; RT "Point mutations of rhodopsin gene found in Japanese families with RT autosomal dominant retinitis pigmentosa (ADRP)."; RL Jpn. J. Hum. Genet. 37:125-132(1992). RN [17] RP VARIANTS RP4 ARG-106; GLY-135; SER-140; GLU-188 AND ARG-211, AND RP VARIANTS ALA-51; ILE-104 AND MET-209. RX PubMed=8317502; RA Macke J.P., Davenport C.M., Jacobson S.G., Hennessey J.C., RA Gonzalez-Fernandez F., Conway B.P., Heckenlively J., Palmer R., RA Maumenee I.H., Sieving P., Gouras P., Good W., Nathans J.; RT "Identification of novel rhodopsin mutations responsible for retinitis RT pigmentosa: implications for the structure and function of RT rhodopsin."; RL Am. J. Hum. Genet. 53:80-89(1993). RN [18] RP VARIANT RP4 SER-15. RX PubMed=8353500; DOI=10.1093/hmg/2.6.813; RA Kranich H., Bartkowski S., Denton M.J., Krey S., Dickinson P., RA Duvigneau C., Gal A.; RT "Autosomal dominant 'sector' retinitis pigmentosa due to a point RT mutation predicting an Asn-15-Ser substitution of rhodopsin."; RL Hum. Mol. Genet. 2:813-814(1993). RN [19] RP VARIANT CSNBAD1 GLU-292. RX PubMed=8358437; DOI=10.1038/ng0793-280; RA Dryja T.P., Berson E.L., Rao V.R., Oprian D.D.; RT "Heterozygous missense mutation in the rhodopsin gene as a cause of RT congenital stationary night blindness."; RL Nat. Genet. 4:280-283(1993). RN [20] RP VARIANTS RP4. RX PubMed=8088850; DOI=10.1006/geno.1994.1301; RA Vaithinathan R., Berson E.L., Dryja T.P.; RT "Further screening of the rhodopsin gene in patients with autosomal RT dominant retinitis pigmentosa."; RL Genomics 21:461-463(1994). RN [21] RP VARIANT RP4 THR-44. RX PubMed=8076945; DOI=10.1007/BF00208284; RA Reig C., Antich J., Gean E., Garcia-Sandoval B., Ramos C., Ayuso C., RA Carballo M.; RT "Identification of a novel rhodopsin mutation (Met-44-Thr) in a RT simplex case of retinitis pigmentosa."; RL Hum. Genet. 94:283-286(1994). RN [22] RP VARIANTS RP4 PHE-110; PRO-131 AND VAL-164. RX PubMed=7981701; DOI=10.1093/hmg/3.7.1203; RA Fuchs S., Kranich H., Denton M.J., Zrenner E., Bhattacharya S.S., RA Humphries P., Gal A.; RT "Three novel rhodopsin mutations (C110F, L131P, A164V) in patients RT with autosomal dominant retinitis pigmentosa."; RL Hum. Mol. Genet. 3:1203-1203(1994). RN [23] RP VARIANT RP4 GLN-171. RX PubMed=7987326; DOI=10.1093/hmg/3.8.1421; RA Antinolo G., Sanchez B., Borrego S., Rueda T., Chaparro P., RA Cabeza J.C.; RT "Identification of a new mutation at codon 171 of rhodopsin gene RT causing autosomal dominant retinitis pigmentosa."; RL Hum. Mol. Genet. 3:1421-1421(1994). RN [24] RP VARIANTS RP4 PHE-127; PRO-131; ASN-178; ARG-267 AND ARG-297. RX PubMed=7987331; DOI=10.1093/hmg/3.8.1433; RA Souied E., Gerber S., Rozet J.-M., Bonneau D., Dufier J.-L., Ghazi I., RA Philip N., Soubrane G., Coscas G., Munnich A.; RT "Five novel missense mutations of the rhodopsin gene in autosomal RT dominant retinitis pigmentosa."; RL Hum. Mol. Genet. 3:1433-1434(1994). RN [25] RP VARIANTS RP4 ARG-40 AND LYS-216. RX PubMed=8081400; DOI=10.1002/humu.1380030417; RA Al-Maghtheh M., Inglehearn C., Lunt P., Jay M., Bird A., RA Bhattacharya S.; RT "Two new rhodopsin transversion mutations (L40R; M216K) in families RT with autosomal dominant retinitis pigmentosa."; RL Hum. Mutat. 3:409-410(1994). RN [26] RP VARIANT RP4 LEU-345. RX PubMed=8045708; RA Rosas D.J., Roman A.J., Weissbrod P., Macke J.P., Nathans J.; RT "Autosomal dominant retinitis pigmentosa in a large family: a clinical RT and molecular genetic study."; RL Invest. Ophthalmol. Vis. Sci. 35:3134-3144(1994). RN [27] RP VARIANT ARRP LYS-150. RX PubMed=7987385; DOI=10.1038/ng0994-10; RA Kumaramanickavel G., Maw M., Denton M.J., John S., Srikumari C.R., RA Orth U., Oehlmann R., Gal A.; RT "Missense rhodopsin mutation in a family with recessive RP."; RL Nat. Genet. 8:10-11(1994). RN [28] RP VARIANT RP4 ALA-347. RX PubMed=7633434; DOI=10.1093/hmg/4.4.775; RA Macke J.P., Hennessey J.C., Nathans J.; RT "Rhodopsin mutation proline347-to-alanine in a family with autosomal RT dominant retinitis pigmentosa indicates an important role for proline RT at position 347."; RL Hum. Mol. Genet. 4:775-776(1995). RN [29] RP VARIANT CSNBAD1 ASP-90. RX PubMed=7846071; DOI=10.1073/pnas.92.3.880; RA Sieving P.A., Richards J.E., Naarendorp F., Bingham E.L., Scott K., RA Alpern M.; RT "Dark-light: model for nightblindness from the human rhodopsin Gly- RT 90-->Asp mutation."; RL Proc. Natl. Acad. Sci. U.S.A. 92:880-884(1995). RN [30] RP VARIANT RP4 TRP-135. RX PubMed=8554077; RA Souied E., Soubrane G., Benlian P., Coscas G.J., Gerber S., RA Munnich A., Kaplan J.; RT "Retinitis punctata albescens associated with the Arg135Trp mutation RT in the rhodopsin gene."; RL Am. J. Ophthalmol. 121:19-25(1996). RN [31] RP VARIANT RP4 ARG-109. RX PubMed=9452035; RA Goliath R., Bardien S., September A., Martin R., Ramesar R., RA Greenberg J.; RT "Rhodopsin mutation G109R in a family with autosomal dominant RT retinitis pigmentosa."; RL Hum. Mutat. Suppl. 1:S40-S41(1998). RN [32] RP VARIANT CSNBAD1 ILE-94. RX PubMed=9888392; RX DOI=10.1002/(SICI)1098-1004(1999)13:1<75::AID-HUMU9>3.0.CO;2-4; RA Al-Jandal N., Farrar G.J., Kiang A.-S., Humphries M.M., Bannon N., RA Findlay J.B.C., Humphries P., Kenna P.F.; RT "A novel mutation within the rhodopsin gene (Thr-94-Ile) causing RT autosomal dominant congenital stationary night blindness."; RL Hum. Mutat. 13:75-81(1999). RN [33] RP CHARACTERIZATION OF VARIANT RP4 HIS-23, AND SUBCELLULAR LOCATION. RX PubMed=19934218; DOI=10.1242/jcs.055228; RA Kosmaoglou M., Kanuga N., Aguila M., Garriga P., Cheetham M.E.; RT "A dual role for EDEM1 in the processing of rod opsin."; RL J. Cell Sci. 122:4465-4472(2009). RN [34] RP VARIANT RP4 LYS-150. RX PubMed=19960070; RA Azam M., Khan M.I., Gal A., Hussain A., Shah S.T., Khan M.S., RA Sadeque A., Bokhari H., Collin R.W., Orth U., van Genderen M.M., RA den Hollander A.I., Cremers F.P., Qamar R.; RT "A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani RT families with autosomal recessive retinitis pigmentosa."; RL Mol. Vis. 15:2526-2534(2009). RN [35] RP VARIANTS RP4 TRP-135; SER-180 AND ASN-214. RX PubMed=22334370; DOI=10.1002/humu.22045; RA Neveling K., Collin R.W., Gilissen C., van Huet R.A., Visser L., RA Kwint M.P., Gijsen S.J., Zonneveld M.N., Wieskamp N., de Ligt J., RA Siemiatkowska A.M., Hoefsloot L.H., Buckley M.F., Kellner U., RA Branham K.E., den Hollander A.I., Hoischen A., Hoyng C., RA Klevering B.J., van den Born L.I., Veltman J.A., Cremers F.P., RA Scheffer H.; RT "Next-generation genetic testing for retinitis pigmentosa."; RL Hum. Mutat. 33:963-972(2012). CC -!- FUNCTION: Photoreceptor required for image-forming vision at low CC light intensity. Required for photoreceptor cell viability after CC birth. Light-induced isomerization of 11-cis to all-trans retinal CC triggers a conformational change leading to G-protein activation CC and release of all-trans retinal. CC -!- BIOPHYSICOCHEMICAL PROPERTIES: CC Absorption: CC Abs(max)=495 nm; CC -!- SUBUNIT: Homodimer (By similarity). CC -!- INTERACTION: CC O95405:ZFYVE9; NbExp=2; IntAct=EBI-1394177, EBI-296817; CC -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. CC Note=Synthesized in the inner segment (IS) of rod photoreceptor CC cells before vectorial transport to the rod outer segment (OS) CC photosensory cilia. CC -!- TISSUE SPECIFICITY: Rod shaped photoreceptor cells which mediates CC vision in dim light. CC -!- PTM: Phosphorylated on some or all of the serine and threonine CC residues present in the C-terminal region. CC -!- PTM: Contains one covalently linked retinal chromophore (By CC similarity). CC -!- DISEASE: Retinitis pigmentosa 4 (RP4) [MIM:613731]: A retinal CC dystrophy belonging to the group of pigmentary retinopathies. CC Retinitis pigmentosa is characterized by retinal pigment deposits CC visible on fundus examination and primary loss of rod CC photoreceptor cells followed by secondary loss of cone CC photoreceptors. Patients typically have night vision blindness and CC loss of midperipheral visual field. As their condition progresses, CC they lose their far peripheral visual field and eventually central CC vision as well. Note=The disease is caused by mutations affecting CC the gene represented in this entry. CC -!- DISEASE: Congenital stationary night blindness, autosomal CC dominant, 1 (CSNBAD1) [MIM:610445]: A non-progressive retinal CC disorder characterized by impaired night vision, often associated CC with nystagmus and myopia. Note=The disease is caused by mutations CC affecting the gene represented in this entry. CC -!- SIMILARITY: Belongs to the G-protein coupled receptor 1 family. CC Opsin subfamily. CC -!- WEB RESOURCE: Name=Mutations of the RHO gene; Note=Retina CC International's Scientific Newsletter; CC URL="http://www.retina-international.org/files/sci-news/rhomut.htm"; CC -!- WEB RESOURCE: Name=GeneReviews; CC URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RHO"; CC -!- WEB RESOURCE: Name=Wikipedia; Note=Rhodopsin entry; CC URL="http://en.wikipedia.org/wiki/Rhodopsin"; CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; U49742; AAC31763.1; -; Genomic_DNA. DR EMBL; AB065668; BAC05894.1; -; Genomic_DNA. DR EMBL; BX537381; CAD97623.1; -; mRNA. DR EMBL; BC112104; AAI12105.1; -; mRNA. DR EMBL; BC112106; AAI12107.1; -; mRNA. DR EMBL; U16824; AAA97436.1; -; Genomic_DNA. DR EMBL; S81166; AAB35906.1; -; Genomic_DNA. DR IPI; IPI00027391; -. DR PIR; A41200; OOHU. DR RefSeq; NP_000530.1; NM_000539.3. DR UniGene; Hs.247565; -. DR ProteinModelPortal; P08100; -. DR IntAct; P08100; 3. DR STRING; 9606.ENSP00000296271; -. DR GlycoSuiteDB; P08100; -. DR PhosphoSite; P08100; -. DR DMDM; 129207; -. DR PaxDb; P08100; -. DR PRIDE; P08100; -. DR DNASU; 6010; -. DR Ensembl; ENST00000296271; ENSP00000296271; ENSG00000163914. DR GeneID; 6010; -. DR KEGG; hsa:6010; -. DR UCSC; uc003emt.3; human. DR CTD; 6010; -. DR GeneCards; GC03P129247; -. DR HGNC; HGNC:10012; RHO. DR MIM; 180380; gene. DR MIM; 610445; phenotype. DR MIM; 613731; phenotype. DR neXtProt; NX_P08100; -. DR Orphanet; 215; Congenital stationary night blindness. DR Orphanet; 791; Retinitis pigmentosa. DR Orphanet; 52427; Retinitis punctata albescens. DR PharmGKB; PA34390; -. DR eggNOG; NOG311294; -. DR HOGENOM; HOG000253932; -. DR HOVERGEN; HBG107442; -. DR InParanoid; P08100; -. DR KO; K04250; -. DR OMA; LAAYMFM; -. DR OrthoDB; EOG4P5K9D; -. DR PhylomeDB; P08100; -. DR Pathway_Interaction_DB; rhodopsin_pathway; Visual signal transduction: Rods. DR Reactome; REACT_111102; Signal Transduction. DR SignaLink; P08100; -. DR DrugBank; DB01159; Halothane. DR GenomeRNAi; 6010; -. DR NextBio; 23449; -. DR Bgee; P08100; -. DR CleanEx; HS_RHO; -. DR Genevestigator; P08100; -. DR GermOnline; ENSG00000163914; Homo sapiens. DR GO; GO:0005794; C:Golgi apparatus; IDA:MGI. DR GO; GO:0005887; C:integral to plasma membrane; TAS:ProtInc. DR GO; GO:0097381; C:photoreceptor disc membrane; TAS:Reactome. DR GO; GO:0060342; C:photoreceptor inner segment membrane; IDA:UniProtKB. DR GO; GO:0042622; C:photoreceptor outer segment membrane; IDA:UniProtKB. DR GO; GO:0030867; C:rough endoplasmic reticulum membrane; IEA:Compara. DR GO; GO:0004930; F:G-protein coupled receptor activity; TAS:ProtInc. DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW. DR GO; GO:0009881; F:photoreceptor activity; IEA:UniProtKB-KW. DR GO; GO:0016918; F:retinal binding; IEA:Compara. DR GO; GO:0006468; P:protein phosphorylation; IEA:Compara. DR GO; GO:0018298; P:protein-chromophore linkage; IEA:UniProtKB-KW. DR GO; GO:0009585; P:red, far-red light phototransduction; IEA:Compara. DR GO; GO:0060041; P:retina development in camera-type eye; IEA:Compara. DR GO; GO:0001523; P:retinoid metabolic process; TAS:Reactome. DR GO; GO:0016056; P:rhodopsin mediated signaling pathway; TAS:ProtInc. DR GO; GO:0007601; P:visual perception; IEA:UniProtKB-KW. DR Gene3D; 4.10.840.10; -; 1. DR InterPro; IPR000276; GPCR_Rhodpsn. DR InterPro; IPR017452; GPCR_Rhodpsn_7TM. DR InterPro; IPR001760; Opsin. DR InterPro; IPR027430; Retinal_BS. DR InterPro; IPR000732; Rhodopsin. DR InterPro; IPR019477; Rhodopsin_N. DR Pfam; PF00001; 7tm_1; 1. DR Pfam; PF10413; Rhodopsin_N; 1. DR PRINTS; PR00237; GPCRRHODOPSN. DR PRINTS; PR00238; OPSIN. DR PRINTS; PR00579; RHODOPSIN. 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 Acetylation; Chromophore; Complete proteome; KW Congenital stationary night blindness; Disease mutation; KW Disulfide bond; G-protein coupled receptor; Glycoprotein; Lipoprotein; KW Membrane; Metal-binding; Palmitate; Phosphoprotein; KW Photoreceptor protein; Polymorphism; Receptor; Reference proteome; KW Retinal protein; Retinitis pigmentosa; Sensory transduction; KW Transducer; Transmembrane; Transmembrane helix; Vision; Zinc. FT CHAIN 1 348 Rhodopsin. FT /FTId=PRO_0000197677. FT TOPO_DOM 1 36 Extracellular. FT TRANSMEM 37 61 Helical; Name=1; (Potential). FT TOPO_DOM 62 73 Cytoplasmic. FT TRANSMEM 74 98 Helical; Name=2; (Potential). FT TOPO_DOM 99 113 Extracellular. FT TRANSMEM 114 133 Helical; Name=3; (Potential). FT TOPO_DOM 134 152 Cytoplasmic. FT TRANSMEM 153 176 Helical; Name=4; (Potential). FT TOPO_DOM 177 202 Extracellular. FT TRANSMEM 203 230 Helical; Name=5; (Potential). FT TOPO_DOM 231 252 Cytoplasmic. FT TRANSMEM 253 276 Helical; Name=6; (Potential). FT TOPO_DOM 277 284 Extracellular. FT TRANSMEM 285 309 Helical; Name=7; (Potential). FT TOPO_DOM 310 348 Cytoplasmic. FT REGION 113 125 Retinal chromophore binding (By FT similarity). FT REGION 207 212 Retinal chromophore binding (By FT similarity). FT MOTIF 134 137 'Ionic lock' involved in activated form FT stabilization. FT METAL 201 201 Zinc (By similarity). FT METAL 279 279 Zinc (By similarity). FT BINDING 265 265 Retinal chromophore (By similarity). FT BINDING 296 296 Retinal chromophore (covalent) (By FT similarity). FT MOD_RES 1 1 N-acetylmethionine (By similarity). FT MOD_RES 296 296 N6-(retinylidene)lysine. FT MOD_RES 334 334 Phosphoserine (By similarity). FT MOD_RES 336 336 Phosphothreonine (By similarity). FT MOD_RES 338 338 Phosphoserine (By similarity). FT MOD_RES 340 340 Phosphothreonine (By similarity). FT MOD_RES 342 342 Phosphothreonine (By similarity). FT MOD_RES 343 343 Phosphoserine (By similarity). FT LIPID 322 322 S-palmitoyl cysteine (By similarity). FT LIPID 323 323 S-palmitoyl cysteine (By similarity). FT CARBOHYD 2 2 N-linked (GlcNAc...) (By similarity). FT CARBOHYD 15 15 N-linked (GlcNAc...) (By similarity). FT DISULFID 110 187 By similarity. FT VARIANT 4 4 T -> K (in RP4). FT /FTId=VAR_004765. FT VARIANT 15 15 N -> S (in RP4). FT /FTId=VAR_004766. FT VARIANT 17 17 T -> M (in RP4). FT /FTId=VAR_004767. FT VARIANT 23 23 P -> H (in RP4; most common variant, FT leads to interaction with EDEM1 followed FT by degradation by the ERAD system). FT /FTId=VAR_004768. FT VARIANT 23 23 P -> L (in RP4). FT /FTId=VAR_004769. FT VARIANT 28 28 Q -> H (in RP4). FT /FTId=VAR_004770. FT VARIANT 40 40 L -> R (in RP4). FT /FTId=VAR_004771. FT VARIANT 44 44 M -> T (in RP4). FT /FTId=VAR_004772. FT VARIANT 45 45 F -> L (in RP4). FT /FTId=VAR_004773. FT VARIANT 46 46 L -> R (in RP4). FT /FTId=VAR_004774. FT VARIANT 51 51 G -> A. FT /FTId=VAR_004775. FT VARIANT 51 51 G -> R (in RP4). FT /FTId=VAR_004776. FT VARIANT 51 51 G -> V (in RP4). FT /FTId=VAR_004777. FT VARIANT 53 53 P -> R (in RP4; dbSNP:rs28933395). FT /FTId=VAR_004778. FT VARIANT 58 58 T -> R (in RP4; dbSNP:rs28933394). FT /FTId=VAR_004779. FT VARIANT 68 71 Missing (in RP4). FT /FTId=VAR_004780. FT VARIANT 87 87 V -> D (in RP4). FT /FTId=VAR_004781. FT VARIANT 89 89 G -> D (in RP4). FT /FTId=VAR_004782. FT VARIANT 90 90 G -> D (in CSNBAD1). FT /FTId=VAR_004783. FT VARIANT 94 94 T -> I (in CSNBAD1). FT /FTId=VAR_004784. FT VARIANT 104 104 V -> I. FT /FTId=VAR_004785. FT VARIANT 106 106 G -> R (in RP4; dbSNP:rs28933994). FT /FTId=VAR_004786. FT VARIANT 106 106 G -> W (in RP4). FT /FTId=VAR_004787. FT VARIANT 109 109 G -> R (in RP4). FT /FTId=VAR_004788. FT VARIANT 110 110 C -> F (in RP4). FT /FTId=VAR_004789. FT VARIANT 110 110 C -> Y (in RP4). FT /FTId=VAR_004790. FT VARIANT 114 114 G -> D (in RP4). FT /FTId=VAR_004791. FT VARIANT 125 125 L -> R (in RP4). FT /FTId=VAR_004792. FT VARIANT 127 127 S -> F (in RP4). FT /FTId=VAR_004793. FT VARIANT 131 131 L -> P (in RP4). FT /FTId=VAR_004794. FT VARIANT 135 135 R -> G (in RP4). FT /FTId=VAR_004795. FT VARIANT 135 135 R -> L (in RP4). FT /FTId=VAR_004796. FT VARIANT 135 135 R -> W (in RP4). FT /FTId=VAR_004797. FT VARIANT 140 140 C -> S (in RP4). FT /FTId=VAR_004798. FT VARIANT 150 150 E -> K (in RP4; autosomal recessive). FT /FTId=VAR_004799. FT VARIANT 164 164 A -> E (in RP4). FT /FTId=VAR_004800. FT VARIANT 164 164 A -> V (in RP4). FT /FTId=VAR_004801. FT VARIANT 167 167 C -> R (in RP4). FT /FTId=VAR_004802. FT VARIANT 171 171 P -> L (in RP4). FT /FTId=VAR_004803. FT VARIANT 171 171 P -> Q (in RP4). FT /FTId=VAR_004804. FT VARIANT 171 171 P -> S (in RP4). FT /FTId=VAR_004805. FT VARIANT 178 178 Y -> C (in RP4). FT /FTId=VAR_004806. FT VARIANT 178 178 Y -> N (in RP4). FT /FTId=VAR_004807. FT VARIANT 180 180 P -> S (in RP4). FT /FTId=VAR_068359. FT VARIANT 181 181 E -> K (in RP4). FT /FTId=VAR_004808. FT VARIANT 182 182 G -> S (in RP4). FT /FTId=VAR_004809. FT VARIANT 186 186 S -> P (in RP4). FT /FTId=VAR_004810. FT VARIANT 188 188 G -> E (in RP4). FT /FTId=VAR_004811. FT VARIANT 188 188 G -> R (in RP4). FT /FTId=VAR_004812. FT VARIANT 190 190 D -> G (in RP4). FT /FTId=VAR_004814. FT VARIANT 190 190 D -> N (in RP4; dbSNP:rs28933992). FT /FTId=VAR_004813. FT VARIANT 190 190 D -> Y (in RP4). FT /FTId=VAR_004815. FT VARIANT 207 207 M -> R (in RP4; dbSNP:rs28933995). FT /FTId=VAR_004816. FT VARIANT 209 209 V -> M (effect not known). FT /FTId=VAR_004817. FT VARIANT 211 211 H -> P (in RP4; dbSNP:rs28933993). FT /FTId=VAR_004818. FT VARIANT 211 211 H -> R (in RP4). FT /FTId=VAR_004819. FT VARIANT 214 214 I -> N (in RP4). FT /FTId=VAR_068360. FT VARIANT 216 216 M -> K (in RP4). FT /FTId=VAR_004820. FT VARIANT 220 220 F -> C (in RP4). FT /FTId=VAR_004821. FT VARIANT 222 222 C -> R (in RP4). FT /FTId=VAR_004822. FT VARIANT 255 255 Missing (in RP4). FT /FTId=VAR_004823. FT VARIANT 264 264 Missing (in RP4). FT /FTId=VAR_004824. FT VARIANT 267 267 P -> L (in RP4). FT /FTId=VAR_004825. FT VARIANT 267 267 P -> R (in RP4). FT /FTId=VAR_004826. FT VARIANT 292 292 A -> E (in CSNBAD1). FT /FTId=VAR_004827. FT VARIANT 296 296 K -> E (in RP4; dbSNP:rs29001653). FT /FTId=VAR_004828. FT VARIANT 297 297 S -> R (in RP4). FT /FTId=VAR_004829. FT VARIANT 342 342 T -> M (in RP4). FT /FTId=VAR_004830. FT VARIANT 345 345 V -> L (in RP4). FT /FTId=VAR_004831. FT VARIANT 345 345 V -> M (in RP4). FT /FTId=VAR_004832. FT VARIANT 347 347 P -> A (in RP4). FT /FTId=VAR_004833. FT VARIANT 347 347 P -> L (in RP4; common variant). FT /FTId=VAR_004834. FT VARIANT 347 347 P -> Q (in RP4). FT /FTId=VAR_004835. FT VARIANT 347 347 P -> R (in RP4; dbSNP:rs29001566). FT /FTId=VAR_004836. FT VARIANT 347 347 P -> S (in RP4; dbSNP:rs29001637). FT /FTId=VAR_004837. SQ SEQUENCE 348 AA; 38893 MW; 6F4F6FCBA34265B2 CRC64; MNGTEGPNFY VPFSNATGVV RSPFEYPQYY LAEPWQFSML AAYMFLLIVL GFPINFLTLY VTVQHKKLRT PLNYILLNLA VADLFMVLGG FTSTLYTSLH GYFVFGPTGC NLEGFFATLG GEIALWSLVV LAIERYVVVC KPMSNFRFGE NHAIMGVAFT WVMALACAAP PLAGWSRYIP EGLQCSCGID YYTLKPEVNN ESFVIYMFVV HFTIPMIIIF FCYGQLVFTV KEAAAQQQES ATTQKAEKEV TRMVIIMVIA FLICWVPYAS VAFYIFTHQG SNFGPIFMTI PAFFAKSAAI YNPVIYIMMN KQFRNCMLTT ICCGKNPLGD DEASATVSKT ETSQVAPA //