UniProtKB - P08100 (OPSD_HUMAN)
(max 400 entries)x
Your basket is currently empty.
Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)
Protein
Rhodopsin
Gene
RHO
Organism
Homo sapiens (Human)
Status
Functioni
Photoreceptor required for image-forming vision at low light intensity. Required for photoreceptor cell viability after birth. Light-induced isomerization of 11-cis to all-trans retinal triggers a conformational change leading to G-protein activation and release of all-trans retinal.
Absorptioni
Abs(max)=495 nm
Sites
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Metal bindingi | 201 | ZincBy similarity | 1 | |
| Binding sitei | 265 | Retinal chromophoreBy similarity | 1 | |
| Metal bindingi | 279 | ZincBy similarity | 1 |
GO - Molecular functioni
- G-protein coupled photoreceptor activity Source: GO_Central
- G-protein coupled receptor activity Source: ProtInc
- metal ion binding Source: UniProtKB-KW
GO - Biological processi
- absorption of visible light Source: AgBase
- G-protein coupled receptor signaling pathway Source: ProtInc
- photoreceptor cell maintenance Source: Ensembl
- phototransduction, visible light Source: ProtInc
- protein-chromophore linkage Source: UniProtKB-KW
- protein phosphorylation Source: Ensembl
- regulation of rhodopsin mediated signaling pathway Source: Reactome
- retina development in camera-type eye Source: Ensembl
- retinoid metabolic process Source: Reactome
- rhodopsin mediated signaling pathway Source: Reactome
- visual perception Source: UniProtKB-KW
Keywordsi
| Molecular function | G-protein coupled receptor, Photoreceptor protein, Receptor, Retinal protein, Transducer |
| Biological process | Sensory transduction, Vision |
| Ligand | Chromophore, Metal-binding, Zinc |
Enzyme and pathway databases
| Reactomei | R-HSA-2453902. The canonical retinoid cycle in rods (twilight vision). R-HSA-2485179. Activation of the phototransduction cascade. R-HSA-2514859. Inactivation, recovery and regulation of the phototransduction cascade. R-HSA-418594. G alpha (i) signalling events. R-HSA-419771. Opsins. R-HSA-5620916. VxPx cargo-targeting to cilium. |
| SignaLinki | P08100. |
| SIGNORi | P08100. |
Protein family/group databases
| TCDBi | 9.A.14.1.2. the g-protein-coupled receptor (gpcr) family. |
Names & Taxonomyi
| Protein namesi | Recommended name: RhodopsinAlternative name(s): Opsin-2 |
| Gene namesi | Name:RHO Synonyms:OPN2 |
| Organismi | Homo sapiens (Human) |
| Taxonomic identifieri | 9606 [NCBI] |
| Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
| Proteomesi |
|
Organism-specific databases
| HGNCi | HGNC:10012. RHO. |
Subcellular locationi
- Membrane 1 Publication; Multi-pass membrane protein 1 Publication
Note: Synthesized in the inner segment (IS) of rod photoreceptor cells before vectorial transport to the rod outer segment (OS) photosensory cilia.
Topology
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Topological domaini | 1 – 36 | ExtracellularAdd BLAST | 36 | |
| Transmembranei | 37 – 61 | Helical; Name=1Sequence analysisAdd BLAST | 25 | |
| Topological domaini | 62 – 73 | CytoplasmicAdd BLAST | 12 | |
| Transmembranei | 74 – 98 | Helical; Name=2Sequence analysisAdd BLAST | 25 | |
| Topological domaini | 99 – 113 | ExtracellularAdd BLAST | 15 | |
| Transmembranei | 114 – 133 | Helical; Name=3Sequence analysisAdd BLAST | 20 | |
| Topological domaini | 134 – 152 | CytoplasmicAdd BLAST | 19 | |
| Transmembranei | 153 – 176 | Helical; Name=4Sequence analysisAdd BLAST | 24 | |
| Topological domaini | 177 – 202 | ExtracellularAdd BLAST | 26 | |
| Transmembranei | 203 – 230 | Helical; Name=5Sequence analysisAdd BLAST | 28 | |
| Topological domaini | 231 – 252 | CytoplasmicAdd BLAST | 22 | |
| Transmembranei | 253 – 276 | Helical; Name=6Sequence analysisAdd BLAST | 24 | |
| Topological domaini | 277 – 284 | Extracellular | 8 | |
| Transmembranei | 285 – 309 | Helical; Name=7Sequence analysisAdd BLAST | 25 | |
| Topological domaini | 310 – 348 | CytoplasmicAdd BLAST | 39 |
GO - Cellular componenti
- cell-cell junction Source: Ensembl
- ciliary membrane Source: Reactome
- Golgi apparatus Source: MGI
- Golgi-associated vesicle membrane Source: Reactome
- Golgi membrane Source: Reactome
- integral component of plasma membrane Source: ProtInc
- photoreceptor disc membrane Source: Reactome
- photoreceptor inner segment Source: MGI
- photoreceptor inner segment membrane Source: UniProtKB
- photoreceptor outer segment Source: MGI
- photoreceptor outer segment membrane Source: UniProtKB
- plasma membrane Source: LIFEdb
Keywords - Cellular componenti
MembranePathology & Biotechi
Involvement in diseasei
Retinitis pigmentosa 4 (RP4)25 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
See also OMIM:613731| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_004765 | 4 | T → K in RP4. | 1 | |
| Natural variantiVAR_004766 | 15 | N → S in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893786Ensembl. | 1 | |
| Natural variantiVAR_004767 | 17 | T → M in RP4. 2 PublicationsCorresponds to variant dbSNP:rs104893769Ensembl. | 1 | |
| Natural variantiVAR_004768 | 23 | P → H in RP4; most common variant; leads to interaction with EDEM1 followed by degradation by the ERAD system. 4 PublicationsCorresponds to variant dbSNP:rs104893768Ensembl. | 1 | |
| Natural variantiVAR_004769 | 23 | P → L in RP4. | 1 | |
| Natural variantiVAR_004770 | 28 | Q → H in RP4. | 1 | |
| Natural variantiVAR_004771 | 40 | L → R in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004772 | 44 | M → T in RP4. 1 PublicationCorresponds to variant dbSNP:rs774336493Ensembl. | 1 | |
| Natural variantiVAR_004773 | 45 | F → L in RP4. Corresponds to variant dbSNP:rs104893770Ensembl. | 1 | |
| Natural variantiVAR_004774 | 46 | L → R in RP4. | 1 | |
| Natural variantiVAR_004776 | 51 | G → R in RP4. Corresponds to variant dbSNP:rs104893792Ensembl. | 1 | |
| Natural variantiVAR_004777 | 51 | G → V in RP4. | 1 | |
| Natural variantiVAR_004778 | 53 | P → R in RP4. Corresponds to variant dbSNP:rs28933395Ensembl. | 1 | |
| Natural variantiVAR_004779 | 58 | T → R in RP4. 2 PublicationsCorresponds to variant dbSNP:rs28933394Ensembl. | 1 | |
| Natural variantiVAR_004780 | 68 – 71 | Missing in RP4. | 4 | |
| Natural variantiVAR_004781 | 87 | V → D in RP4. Corresponds to variant dbSNP:rs104893771Ensembl. | 1 | |
| Natural variantiVAR_004782 | 89 | G → D in RP4. Corresponds to variant dbSNP:rs104893772Ensembl. | 1 | |
| Natural variantiVAR_004786 | 106 | G → R in RP4. 1 PublicationCorresponds to variant dbSNP:rs28933994Ensembl. | 1 | |
| Natural variantiVAR_004787 | 106 | G → W in RP4. Corresponds to variant dbSNP:rs104893773Ensembl. | 1 | |
| Natural variantiVAR_004788 | 109 | G → R in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004789 | 110 | C → F in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004790 | 110 | C → Y in RP4. Corresponds to variant dbSNP:rs104893787Ensembl. | 1 | |
| Natural variantiVAR_004791 | 114 | G → D in RP4. Corresponds to variant dbSNP:rs104893788Ensembl. | 1 | |
| Natural variantiVAR_004792 | 125 | L → R in RP4. | 1 | |
| Natural variantiVAR_004793 | 127 | S → F in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004794 | 131 | L → P in RP4. 2 Publications | 1 | |
| Natural variantiVAR_004795 | 135 | R → G in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004796 | 135 | R → L in RP4. Corresponds to variant dbSNP:rs104893774Ensembl. | 1 | |
| Natural variantiVAR_004797 | 135 | R → W in RP4. 2 PublicationsCorresponds to variant dbSNP:rs104893775Ensembl. | 1 | |
| Natural variantiVAR_004798 | 140 | C → S in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004799 | 150 | E → K in RP4; autosomal recessive. 2 PublicationsCorresponds to variant dbSNP:rs104893791Ensembl. | 1 | |
| Natural variantiVAR_004800 | 164 | A → E in RP4. Corresponds to variant dbSNP:rs104893793Ensembl. | 1 | |
| Natural variantiVAR_004801 | 164 | A → V in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893793Ensembl. | 1 | |
| Natural variantiVAR_004802 | 167 | C → R in RP4. | 1 | |
| Natural variantiVAR_004803 | 171 | P → L in RP4. | 1 | |
| Natural variantiVAR_004804 | 171 | P → Q in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004805 | 171 | P → S in RP4. Corresponds to variant dbSNP:rs104893794Ensembl. | 1 | |
| Natural variantiVAR_004806 | 178 | Y → C in RP4. Corresponds to variant dbSNP:rs104893776Ensembl. | 1 | |
| Natural variantiVAR_004807 | 178 | Y → N in RP4. 1 Publication | 1 | |
| Natural variantiVAR_068359 | 180 | P → S in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004808 | 181 | E → K in RP4. | 1 | |
| Natural variantiVAR_004809 | 182 | G → S in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893780Ensembl. | 1 | |
| Natural variantiVAR_004810 | 186 | S → P in RP4. | 1 | |
| Natural variantiVAR_004811 | 188 | G → E in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004812 | 188 | G → R in RP4. Corresponds to variant dbSNP:rs527236100Ensembl. | 1 | |
| Natural variantiVAR_004814 | 190 | D → G in RP4. Corresponds to variant dbSNP:rs104893777Ensembl. | 1 | |
| Natural variantiVAR_004813 | 190 | D → N in RP4. Corresponds to variant dbSNP:rs28933992Ensembl. | 1 | |
| Natural variantiVAR_004815 | 190 | D → Y in RP4. Corresponds to variant dbSNP:rs104893779Ensembl. | 1 | |
| Natural variantiVAR_004816 | 207 | M → R in RP4. 1 PublicationCorresponds to variant dbSNP:rs28933995Ensembl. | 1 | |
| Natural variantiVAR_004818 | 211 | H → P in RP4. Corresponds to variant dbSNP:rs28933993Ensembl. | 1 | |
| Natural variantiVAR_004819 | 211 | H → R in RP4. 1 Publication | 1 | |
| Natural variantiVAR_068360 | 214 | I → N in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004820 | 216 | M → K in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004821 | 220 | F → C in RP4. Corresponds to variant dbSNP:rs766161322Ensembl. | 1 | |
| Natural variantiVAR_004822 | 222 | C → R in RP4. | 1 | |
| Natural variantiVAR_004823 | 255 | Missing in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004824 | 264 | Missing in RP4. | 1 | |
| Natural variantiVAR_004825 | 267 | P → L in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893781Ensembl. | 1 | |
| Natural variantiVAR_004826 | 267 | P → R in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004828 | 296 | K → E in RP4. Corresponds to variant dbSNP:rs29001653Ensembl. | 1 | |
| Natural variantiVAR_004829 | 297 | S → R in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004830 | 342 | T → M in RP4. Corresponds to variant dbSNP:rs183318466Ensembl. | 1 | |
| Natural variantiVAR_004831 | 345 | V → L in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893795Ensembl. | 1 | |
| Natural variantiVAR_004832 | 345 | V → M in RP4. Corresponds to variant dbSNP:rs104893795Ensembl. | 1 | |
| Natural variantiVAR_004833 | 347 | P → A in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004834 | 347 | P → L in RP4; common variant. 2 PublicationsCorresponds to variant dbSNP:rs29001566Ensembl. | 1 | |
| Natural variantiVAR_004835 | 347 | P → Q in RP4. Corresponds to variant dbSNP:rs29001566Ensembl. | 1 | |
| Natural variantiVAR_004836 | 347 | P → R in RP4. 1 PublicationCorresponds to variant dbSNP:rs29001566Ensembl. | 1 | |
| Natural variantiVAR_004837 | 347 | P → S in RP4. 1 PublicationCorresponds to variant dbSNP:rs29001637Ensembl. | 1 |
Night blindness, congenital stationary, autosomal dominant 1 (CSNBAD1)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.
See also OMIM:610445| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_004783 | 90 | G → D in CSNBAD1. 1 PublicationCorresponds to variant dbSNP:rs104893790Ensembl. | 1 | |
| Natural variantiVAR_004784 | 94 | T → I in CSNBAD1. 1 PublicationCorresponds to variant dbSNP:rs104893796Ensembl. | 1 | |
| Natural variantiVAR_004827 | 292 | A → E in CSNBAD1. 1 PublicationCorresponds to variant dbSNP:rs104893789Ensembl. | 1 |
Keywords - Diseasei
Congenital stationary night blindness, Disease mutation, Retinitis pigmentosaOrganism-specific databases
| DisGeNETi | 6010. |
| MalaCardsi | RHO. |
| MIMi | 610445. phenotype. 613731. phenotype. |
| OpenTargetsi | ENSG00000163914. |
| Orphaneti | 215. Congenital stationary night blindness. 791. Retinitis pigmentosa. 52427. Retinitis punctata albescens. |
| PharmGKBi | PA34390. |
Chemistry databases
| DrugBanki | DB04233. (Hydroxyethyloxy)Tri(Ethyloxy)Octane. DB03152. B-2-Octylglucoside. DB01159. Halothane. DB04450. Heptyl 1-Thiohexopyranoside. DB03381. Hexadecanal. DB04147. Lauryl Dimethylamine-N-Oxide. DB01646. N-Acetylmethionine. DB03796. Palmitic Acid. DB04522. Phosphonoserine. DB02482. Phosphonothreonine. |
Polymorphism and mutation databases
| BioMutai | RHO. |
| DMDMi | 129207. |
PTM / Processingi
Molecule processing
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| ChainiPRO_0000197677 | 1 – 348 | RhodopsinAdd BLAST | 348 |
Amino acid modifications
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Modified residuei | 1 | N-acetylmethionineBy similarity | 1 | |
| Glycosylationi | 2 | N-linked (GlcNAc...) asparagineBy similarity | 1 | |
| Glycosylationi | 15 | N-linked (GlcNAc...) asparagineBy similarity | 1 | |
| Disulfide bondi | 110 ↔ 187 | PROSITE-ProRule annotation | ||
| Modified residuei | 296 | N6-(retinylidene)lysineBy similarity | 1 | |
| Lipidationi | 322 | S-palmitoyl cysteineBy similarity | 1 | |
| Lipidationi | 323 | S-palmitoyl cysteineBy similarity | 1 | |
| Modified residuei | 334 | PhosphoserineBy similarity | 1 | |
| Modified residuei | 336 | PhosphothreonineBy similarity | 1 | |
| Modified residuei | 338 | PhosphoserineBy similarity | 1 | |
| Modified residuei | 340 | PhosphothreonineBy similarity | 1 | |
| Modified residuei | 342 | PhosphothreonineBy similarity | 1 | |
| Modified residuei | 343 | PhosphoserineBy similarity | 1 |
Post-translational modificationi
Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region.
Contains one covalently linked retinal chromophore.By similarity
Keywords - PTMi
Acetylation, Disulfide bond, Glycoprotein, Lipoprotein, Palmitate, PhosphoproteinProteomic databases
| EPDi | P08100. |
| PaxDbi | P08100. |
| PeptideAtlasi | P08100. |
| PRIDEi | P08100. |
PTM databases
| iPTMneti | P08100. |
| PhosphoSitePlusi | P08100. |
| UniCarbKBi | P08100. |
Expressioni
Tissue specificityi
Rod shaped photoreceptor cells which mediates vision in dim light.
Gene expression databases
| Bgeei | ENSG00000163914. |
| CleanExi | HS_RHO. |
| Genevisiblei | P08100. HS. |
Organism-specific databases
| HPAi | CAB022486. HPA013440. |
Interactioni
Subunit structurei
Homodimer.By similarity
Binary interactionsi
| With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| ZFYVE9 | O95405 | 2 | EBI-1394177,EBI-296817 |
Protein-protein interaction databases
| BioGridi | 111942. 11 interactors. |
| IntActi | P08100. 3 interactors. |
| STRINGi | 9606.ENSP00000296271. |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Beta strandi | 2 – 5 | Combined sources | 4 | |
| Beta strandi | 10 – 13 | Combined sources | 4 | |
| Beta strandi | 16 – 18 | Combined sources | 3 | |
| Turni | 23 – 25 | Combined sources | 3 | |
| Turni | 29 – 31 | Combined sources | 3 | |
| Helixi | 34 – 64 | Combined sources | 31 | |
| Beta strandi | 66 – 68 | Combined sources | 3 | |
| Helixi | 71 – 88 | Combined sources | 18 | |
| Helixi | 91 – 100 | Combined sources | 10 | |
| Helixi | 106 – 140 | Combined sources | 35 | |
| Helixi | 144 – 147 | Combined sources | 4 | |
| Helixi | 150 – 168 | Combined sources | 19 | |
| Turni | 170 – 173 | Combined sources | 4 | |
| Beta strandi | 174 – 176 | Combined sources | 3 | |
| Beta strandi | 178 – 180 | Combined sources | 3 | |
| Turni | 182 – 184 | Combined sources | 3 | |
| Beta strandi | 185 – 189 | Combined sources | 5 | |
| Turni | 196 – 199 | Combined sources | 4 | |
| Helixi | 200 – 236 | Combined sources | 37 | |
| Helixi | 241 – 277 | Combined sources | 37 | |
| Helixi | 285 – 306 | Combined sources | 22 | |
| Helixi | 311 – 321 | Combined sources | 11 | |
| Turni | 322 – 324 | Combined sources | 3 |
3D structure databases
| Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
| 4ZWJ | X-ray | 3.30 | A/B/C/D | 1-348 | [»] | |
| 5DGY | X-ray | 7.70 | A/B/C/D | 1-348 | [»] | |
| ProteinModelPortali | P08100. | |||||
| SMRi | P08100. | |||||
| ModBasei | Search... | |||||
| MobiDBi | Search... | |||||
Family & Domainsi
Region
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Regioni | 113 – 125 | Retinal chromophore bindingBy similarityAdd BLAST | 13 | |
| Regioni | 207 – 212 | Retinal chromophore bindingBy similarity | 6 |
Motif
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Motifi | 134 – 137 | 'Ionic lock' involved in activated form stabilization | 4 |
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
| eggNOGi | KOG3656. Eukaryota. ENOG410XRW9. LUCA. |
| GeneTreei | ENSGT00760000118977. |
| HOGENOMi | HOG000253932. |
| HOVERGENi | HBG107442. |
| InParanoidi | P08100. |
| KOi | K04250. |
| OMAi | LAAYMFM. |
| OrthoDBi | EOG091G0BDA. |
| PhylomeDBi | P08100. |
| TreeFami | TF324998. |
Family and domain databases
| Gene3Di | 4.10.840.10. 1 hit. |
| InterProi | View protein in InterPro IPR000276. GPCR_Rhodpsn. IPR017452. GPCR_Rhodpsn_7TM. IPR001760. Opsin. IPR027430. Retinal_BS. IPR000732. Rhodopsin. IPR019477. Rhodopsin_N. |
| Pfami | View protein in Pfam PF00001. 7tm_1. 1 hit. PF10413. Rhodopsin_N. 1 hit. |
| PRINTSi | PR00237. GPCRRHODOPSN. PR00238. OPSIN. PR00579. RHODOPSIN. |
| SMARTi | View protein in SMART SM01381. 7TM_GPCR_Srsx. 1 hit. |
| PROSITEi | View protein in PROSITE PS00237. G_PROTEIN_RECEP_F1_1. 1 hit. PS50262. G_PROTEIN_RECEP_F1_2. 1 hit. PS00238. OPSIN. 1 hit. |
Sequencei
Sequence statusi: Complete.
P08100-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MNGTEGPNFY VPFSNATGVV RSPFEYPQYY LAEPWQFSML AAYMFLLIVL
60 70 80 90 100
GFPINFLTLY VTVQHKKLRT PLNYILLNLA VADLFMVLGG FTSTLYTSLH
110 120 130 140 150
GYFVFGPTGC NLEGFFATLG GEIALWSLVV LAIERYVVVC KPMSNFRFGE
160 170 180 190 200
NHAIMGVAFT WVMALACAAP PLAGWSRYIP EGLQCSCGID YYTLKPEVNN
210 220 230 240 250
ESFVIYMFVV HFTIPMIIIF FCYGQLVFTV KEAAAQQQES ATTQKAEKEV
260 270 280 290 300
TRMVIIMVIA FLICWVPYAS VAFYIFTHQG SNFGPIFMTI PAFFAKSAAI
310 320 330 340
YNPVIYIMMN KQFRNCMLTT ICCGKNPLGD DEASATVSKT ETSQVAPA
Natural variant
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_004765 | 4 | T → K in RP4. | 1 | |
| Natural variantiVAR_004766 | 15 | N → S in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893786Ensembl. | 1 | |
| Natural variantiVAR_004767 | 17 | T → M in RP4. 2 PublicationsCorresponds to variant dbSNP:rs104893769Ensembl. | 1 | |
| Natural variantiVAR_004768 | 23 | P → H in RP4; most common variant; leads to interaction with EDEM1 followed by degradation by the ERAD system. 4 PublicationsCorresponds to variant dbSNP:rs104893768Ensembl. | 1 | |
| Natural variantiVAR_004769 | 23 | P → L in RP4. | 1 | |
| Natural variantiVAR_004770 | 28 | Q → H in RP4. | 1 | |
| Natural variantiVAR_004771 | 40 | L → R in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004772 | 44 | M → T in RP4. 1 PublicationCorresponds to variant dbSNP:rs774336493Ensembl. | 1 | |
| Natural variantiVAR_004773 | 45 | F → L in RP4. Corresponds to variant dbSNP:rs104893770Ensembl. | 1 | |
| Natural variantiVAR_004774 | 46 | L → R in RP4. | 1 | |
| Natural variantiVAR_004775 | 51 | G → A1 PublicationCorresponds to variant dbSNP:rs149079952Ensembl. | 1 | |
| Natural variantiVAR_004776 | 51 | G → R in RP4. Corresponds to variant dbSNP:rs104893792Ensembl. | 1 | |
| Natural variantiVAR_004777 | 51 | G → V in RP4. | 1 | |
| Natural variantiVAR_004778 | 53 | P → R in RP4. Corresponds to variant dbSNP:rs28933395Ensembl. | 1 | |
| Natural variantiVAR_004779 | 58 | T → R in RP4. 2 PublicationsCorresponds to variant dbSNP:rs28933394Ensembl. | 1 | |
| Natural variantiVAR_004780 | 68 – 71 | Missing in RP4. | 4 | |
| Natural variantiVAR_004781 | 87 | V → D in RP4. Corresponds to variant dbSNP:rs104893771Ensembl. | 1 | |
| Natural variantiVAR_004782 | 89 | G → D in RP4. Corresponds to variant dbSNP:rs104893772Ensembl. | 1 | |
| Natural variantiVAR_004783 | 90 | G → D in CSNBAD1. 1 PublicationCorresponds to variant dbSNP:rs104893790Ensembl. | 1 | |
| Natural variantiVAR_004784 | 94 | T → I in CSNBAD1. 1 PublicationCorresponds to variant dbSNP:rs104893796Ensembl. | 1 | |
| Natural variantiVAR_004785 | 104 | V → I1 PublicationCorresponds to variant dbSNP:rs144317206Ensembl. | 1 | |
| Natural variantiVAR_004786 | 106 | G → R in RP4. 1 PublicationCorresponds to variant dbSNP:rs28933994Ensembl. | 1 | |
| Natural variantiVAR_004787 | 106 | G → W in RP4. Corresponds to variant dbSNP:rs104893773Ensembl. | 1 | |
| Natural variantiVAR_004788 | 109 | G → R in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004789 | 110 | C → F in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004790 | 110 | C → Y in RP4. Corresponds to variant dbSNP:rs104893787Ensembl. | 1 | |
| Natural variantiVAR_004791 | 114 | G → D in RP4. Corresponds to variant dbSNP:rs104893788Ensembl. | 1 | |
| Natural variantiVAR_004792 | 125 | L → R in RP4. | 1 | |
| Natural variantiVAR_004793 | 127 | S → F in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004794 | 131 | L → P in RP4. 2 Publications | 1 | |
| Natural variantiVAR_004795 | 135 | R → G in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004796 | 135 | R → L in RP4. Corresponds to variant dbSNP:rs104893774Ensembl. | 1 | |
| Natural variantiVAR_004797 | 135 | R → W in RP4. 2 PublicationsCorresponds to variant dbSNP:rs104893775Ensembl. | 1 | |
| Natural variantiVAR_004798 | 140 | C → S in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004799 | 150 | E → K in RP4; autosomal recessive. 2 PublicationsCorresponds to variant dbSNP:rs104893791Ensembl. | 1 | |
| Natural variantiVAR_004800 | 164 | A → E in RP4. Corresponds to variant dbSNP:rs104893793Ensembl. | 1 | |
| Natural variantiVAR_004801 | 164 | A → V in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893793Ensembl. | 1 | |
| Natural variantiVAR_004802 | 167 | C → R in RP4. | 1 | |
| Natural variantiVAR_004803 | 171 | P → L in RP4. | 1 | |
| Natural variantiVAR_004804 | 171 | P → Q in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004805 | 171 | P → S in RP4. Corresponds to variant dbSNP:rs104893794Ensembl. | 1 | |
| Natural variantiVAR_004806 | 178 | Y → C in RP4. Corresponds to variant dbSNP:rs104893776Ensembl. | 1 | |
| Natural variantiVAR_004807 | 178 | Y → N in RP4. 1 Publication | 1 | |
| Natural variantiVAR_068359 | 180 | P → S in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004808 | 181 | E → K in RP4. | 1 | |
| Natural variantiVAR_004809 | 182 | G → S in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893780Ensembl. | 1 | |
| Natural variantiVAR_004810 | 186 | S → P in RP4. | 1 | |
| Natural variantiVAR_004811 | 188 | G → E in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004812 | 188 | G → R in RP4. Corresponds to variant dbSNP:rs527236100Ensembl. | 1 | |
| Natural variantiVAR_004814 | 190 | D → G in RP4. Corresponds to variant dbSNP:rs104893777Ensembl. | 1 | |
| Natural variantiVAR_004813 | 190 | D → N in RP4. Corresponds to variant dbSNP:rs28933992Ensembl. | 1 | |
| Natural variantiVAR_004815 | 190 | D → Y in RP4. Corresponds to variant dbSNP:rs104893779Ensembl. | 1 | |
| Natural variantiVAR_004816 | 207 | M → R in RP4. 1 PublicationCorresponds to variant dbSNP:rs28933995Ensembl. | 1 | |
| Natural variantiVAR_004817 | 209 | V → M Found in a patient with retinitis pigmentosa; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs567288669Ensembl. | 1 | |
| Natural variantiVAR_004818 | 211 | H → P in RP4. Corresponds to variant dbSNP:rs28933993Ensembl. | 1 | |
| Natural variantiVAR_004819 | 211 | H → R in RP4. 1 Publication | 1 | |
| Natural variantiVAR_068360 | 214 | I → N in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004820 | 216 | M → K in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004821 | 220 | F → C in RP4. Corresponds to variant dbSNP:rs766161322Ensembl. | 1 | |
| Natural variantiVAR_004822 | 222 | C → R in RP4. | 1 | |
| Natural variantiVAR_004823 | 255 | Missing in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004824 | 264 | Missing in RP4. | 1 | |
| Natural variantiVAR_004825 | 267 | P → L in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893781Ensembl. | 1 | |
| Natural variantiVAR_004826 | 267 | P → R in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004827 | 292 | A → E in CSNBAD1. 1 PublicationCorresponds to variant dbSNP:rs104893789Ensembl. | 1 | |
| Natural variantiVAR_004828 | 296 | K → E in RP4. Corresponds to variant dbSNP:rs29001653Ensembl. | 1 | |
| Natural variantiVAR_004829 | 297 | S → R in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004830 | 342 | T → M in RP4. Corresponds to variant dbSNP:rs183318466Ensembl. | 1 | |
| Natural variantiVAR_004831 | 345 | V → L in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893795Ensembl. | 1 | |
| Natural variantiVAR_004832 | 345 | V → M in RP4. Corresponds to variant dbSNP:rs104893795Ensembl. | 1 | |
| Natural variantiVAR_004833 | 347 | P → A in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004834 | 347 | P → L in RP4; common variant. 2 PublicationsCorresponds to variant dbSNP:rs29001566Ensembl. | 1 | |
| Natural variantiVAR_004835 | 347 | P → Q in RP4. Corresponds to variant dbSNP:rs29001566Ensembl. | 1 | |
| Natural variantiVAR_004836 | 347 | P → R in RP4. 1 PublicationCorresponds to variant dbSNP:rs29001566Ensembl. | 1 | |
| Natural variantiVAR_004837 | 347 | P → S in RP4. 1 PublicationCorresponds to variant dbSNP:rs29001637Ensembl. | 1 |
Sequence databases
| Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U49742 Genomic DNA. Translation: AAC31763.1. AB065668 Genomic DNA. Translation: BAC05894.1. BX537381 mRNA. Translation: CAD97623.1. BC112104 mRNA. Translation: AAI12105.1. BC112106 mRNA. Translation: AAI12107.1. U16824 Genomic DNA. Translation: AAA97436.1. S81166 Genomic DNA. Translation: AAB35906.1. |
| CCDSi | CCDS3063.1. |
| PIRi | A41200. OOHU. |
| RefSeqi | NP_000530.1. NM_000539.3. |
| UniGenei | Hs.247565. |
Genome annotation databases
| Ensembli | ENST00000296271; ENSP00000296271; ENSG00000163914. |
| GeneIDi | 6010. |
| KEGGi | hsa:6010. |
| UCSCi | uc003emt.4. human. |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:| 100% | UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry. |
| 90% | UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence). |
| 50% | UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster. |
Entry informationi
| Entry namei | OPSD_HUMAN | |
| Accessioni | P08100Primary (citable) accession number: P08100 Secondary accession number(s): Q16414, Q2M249 | |
| Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 1, 1988 |
| Last sequence update: | August 1, 1988 | |
| Last modified: | July 5, 2017 | |
| This is version 194 of the entry and version 1 of the sequence. See complete history. | ||
| Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
| Annotation program | Chordata Protein Annotation Program | |
| Disclaimer | Any 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 proteomeDocuments
- 7-transmembrane G-linked receptors
List of 7-transmembrane G-linked receptor entries - Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families
