UniProtKB - P08100 (OPSD_HUMAN)
Protein
Rhodopsin
Gene
RHO
Organism
Homo sapiens (Human)
Status
Functioni
Photoreceptor required for image-forming vision at low light intensity (PubMed:8107847, PubMed:7846071). Required for photoreceptor cell viability after birth (PubMed:2215617, PubMed:12566452). Light-induced isomerization of the chromophore 11-cis-retinal to all-trans-retinal triggers a conformational change that activates signaling via G-proteins (PubMed:8107847, PubMed:28524165, PubMed:26200343, PubMed:28753425). Subsequent receptor phosphorylation mediates displacement of the bound G-protein alpha subunit by the arrestin SAG and terminates signaling (PubMed:28524165, PubMed:26200343).1 Publication6 Publications
Sites
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Sitei | 113 | Plays an important role in the conformation switch to the active conformation1 Publication | 1 | |
| Metal bindingi | 201 | ZincBy similarity | 1 | |
| Metal bindingi | 279 | ZincBy similarity | 1 |
GO - Molecular functioni
- 11-cis retinal binding Source: UniProtKB
- G-protein coupled photoreceptor activity Source: UniProtKB
- 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: UniProtKB
- 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: UniProtKB
- 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
| EuPathDBi | HostDB:ENSG00000163914.4 |
| HGNCi | HGNC:10012 RHO |
| MIMi | 180380 gene |
| neXtProti | NX_P08100 |
Subcellular locationi
Topology
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Topological domaini | 1 – 36 | Extracellular2 PublicationsAdd BLAST | 36 | |
| Transmembranei | 37 – 61 | Helical; Name=12 PublicationsAdd BLAST | 25 | |
| Topological domaini | 62 – 73 | Cytoplasmic2 PublicationsAdd BLAST | 12 | |
| Transmembranei | 74 – 96 | Helical; Name=22 PublicationsAdd BLAST | 23 | |
| Topological domaini | 97 – 110 | Extracellular2 PublicationsAdd BLAST | 14 | |
| Transmembranei | 111 – 133 | Helical; Name=32 PublicationsAdd BLAST | 23 | |
| Topological domaini | 134 – 152 | Cytoplasmic2 PublicationsAdd BLAST | 19 | |
| Transmembranei | 153 – 173 | Helical; Name=42 PublicationsAdd BLAST | 21 | |
| Topological domaini | 174 – 202 | Extracellular2 PublicationsAdd BLAST | 29 | |
| Transmembranei | 203 – 224 | Helical; Name=52 PublicationsAdd BLAST | 22 | |
| Topological domaini | 225 – 252 | Cytoplasmic2 PublicationsAdd BLAST | 28 | |
| Transmembranei | 253 – 274 | Helical; Name=62 PublicationsAdd BLAST | 22 | |
| Topological domaini | 275 – 284 | Extracellular2 Publications | 10 | |
| Transmembranei | 285 – 309 | Helical; Name=72 PublicationsAdd BLAST | 25 | |
| Topological domaini | 310 – 348 | Cytoplasmic2 PublicationsAdd BLAST | 39 |
Keywords - Cellular componenti
Cell projection, MembranePathology & Biotechi
Involvement in diseasei
Retinitis pigmentosa 4 (RP4)26 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:rs104893786EnsemblClinVar. | 1 | |
| Natural variantiVAR_004767 | 17 | T → M in RP4. 2 PublicationsCorresponds to variant dbSNP:rs104893769EnsemblClinVar. | 1 | |
| Natural variantiVAR_004768 | 23 | P → H in RP4; most common variant; impairs protein folding; leads to interaction with EDEM1 followed by degradation by the ERAD system. 5 PublicationsCorresponds to variant dbSNP:rs104893768EnsemblClinVar. | 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:rs104893770EnsemblClinVar. | 1 | |
| Natural variantiVAR_004774 | 46 | L → R in RP4. | 1 | |
| Natural variantiVAR_004776 | 51 | G → R in RP4. Corresponds to variant dbSNP:rs104893792EnsemblClinVar. | 1 | |
| Natural variantiVAR_004777 | 51 | G → V in RP4. | 1 | |
| Natural variantiVAR_004778 | 53 | P → R in RP4. Corresponds to variant dbSNP:rs28933395EnsemblClinVar. | 1 | |
| Natural variantiVAR_004779 | 58 | T → R in RP4. 2 PublicationsCorresponds to variant dbSNP:rs28933394EnsemblClinVar. | 1 | |
| Natural variantiVAR_004780 | 68 – 71 | Missing in RP4. | 4 | |
| Natural variantiVAR_004781 | 87 | V → D in RP4. Corresponds to variant dbSNP:rs104893771EnsemblClinVar. | 1 | |
| Natural variantiVAR_004782 | 89 | G → D in RP4. Corresponds to variant dbSNP:rs104893772EnsemblClinVar. | 1 | |
| Natural variantiVAR_004786 | 106 | G → R in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893773EnsemblClinVar. | 1 | |
| Natural variantiVAR_004787 | 106 | G → W in RP4. Corresponds to variant dbSNP:rs104893773EnsemblClinVar. | 1 | |
| Natural variantiVAR_004788 | 109 | G → R in RP4. 1 PublicationCorresponds to variant dbSNP:rs1415160298Ensembl. | 1 | |
| Natural variantiVAR_004789 | 110 | C → F in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004790 | 110 | C → Y in RP4. Corresponds to variant dbSNP:rs104893787EnsemblClinVar. | 1 | |
| Natural variantiVAR_004791 | 114 | G → D in RP4. Corresponds to variant dbSNP:rs104893788EnsemblClinVar. | 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:rs104893774EnsemblClinVar. | 1 | |
| Natural variantiVAR_004797 | 135 | R → W in RP4. 2 PublicationsCorresponds to variant dbSNP:rs104893775EnsemblClinVar. | 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:rs104893791EnsemblClinVar. | 1 | |
| Natural variantiVAR_004800 | 164 | A → E in RP4. Corresponds to variant dbSNP:rs104893793EnsemblClinVar. | 1 | |
| Natural variantiVAR_004801 | 164 | A → V in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893793EnsemblClinVar. | 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:rs104893794EnsemblClinVar. | 1 | |
| Natural variantiVAR_004806 | 178 | Y → C in RP4. Corresponds to variant dbSNP:rs104893776EnsemblClinVar. | 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. Corresponds to variant dbSNP:rs775557680EnsemblClinVar. | 1 | |
| Natural variantiVAR_004809 | 182 | G → S in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893780EnsemblClinVar. | 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:rs527236100EnsemblClinVar. | 1 | |
| Natural variantiVAR_004814 | 190 | D → G in RP4. Corresponds to variant dbSNP:rs104893777EnsemblClinVar. | 1 | |
| Natural variantiVAR_004813 | 190 | D → N in RP4. Corresponds to variant dbSNP:rs104893779EnsemblClinVar. | 1 | |
| Natural variantiVAR_004815 | 190 | D → Y in RP4. Corresponds to variant dbSNP:rs104893779EnsemblClinVar. | 1 | |
| Natural variantiVAR_004816 | 207 | M → R in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893782EnsemblClinVar. | 1 | |
| Natural variantiVAR_004818 | 211 | H → P in RP4. Corresponds to variant dbSNP:rs28933993EnsemblClinVar. | 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:rs104893781EnsemblClinVar. | 1 | |
| Natural variantiVAR_004826 | 267 | P → R in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004828 | 296 | K → E in RP4. Corresponds to variant dbSNP:rs29001653EnsemblClinVar. | 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:rs104893795EnsemblClinVar. | 1 | |
| Natural variantiVAR_004832 | 345 | V → M in RP4. Corresponds to variant dbSNP:rs104893795EnsemblClinVar. | 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:rs29001566EnsemblClinVar. | 1 | |
| Natural variantiVAR_004835 | 347 | P → Q in RP4. Corresponds to variant dbSNP:rs29001566EnsemblClinVar. | 1 | |
| Natural variantiVAR_004836 | 347 | P → R in RP4. 1 PublicationCorresponds to variant dbSNP:rs29001566EnsemblClinVar. | 1 | |
| Natural variantiVAR_004837 | 347 | P → S in RP4. 1 PublicationCorresponds to variant dbSNP:rs29001637EnsemblClinVar. | 1 |
Night blindness, congenital stationary, autosomal dominant 1 (CSNBAD1)4 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; constitutive activity in the absence of bound retinal. 2 PublicationsCorresponds to variant dbSNP:rs104893790EnsemblClinVar. | 1 | |
| Natural variantiVAR_004784 | 94 | T → I in CSNBAD1. 1 PublicationCorresponds to variant dbSNP:rs104893796EnsemblClinVar. | 1 | |
| Natural variantiVAR_004827 | 292 | A → E in CSNBAD1. 1 PublicationCorresponds to variant dbSNP:rs104893789EnsemblClinVar. | 1 |
Mutagenesis
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Mutagenesisi | 113 | E → Q: Induces a conformation change that promotes interaction with GRK1 and SAG; when associated with Y-257. 1 Publication | 1 | |
| Mutagenesisi | 257 | M → Y: Induces a conformation change that promotes interaction with GRK1 and SAG; when associated with Q-113. 2 Publications | 1 | |
| Mutagenesisi | 336 – 340 | TVSKT → AVAKA: Loss of phosphorylation sites and decreased interaction with SAG. 1 Publication | 5 | |
| Mutagenesisi | 336 – 338 | TVS → AVA: Loss of phosphorylation sites and decreased interaction with SAG; when associated with A-343. 1 Publication | 3 | |
| Mutagenesisi | 343 | S → A: Loss of phosphorylation sites and decreased interaction with SAG; when associated with 336-A--A-338. 1 Publication | 1 |
Keywords - Diseasei
Congenital stationary night blindness, Disease mutation, Retinitis pigmentosaOrganism-specific databases
| DisGeNETi | 6010 |
| GeneReviewsi | RHO |
| 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...) asparagine1 Publication | 1 | |
| Disulfide bondi | 110 ↔ 187 | PROSITE-ProRule annotation2 Publications | ||
| 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 | Phosphoserine1 Publication | 1 | |
| Modified residuei | 336 | Phosphothreonine1 Publication | 1 | |
| Modified residuei | 338 | Phosphoserine1 Publication | 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 (By similarity). After activation by light, phosphorylated by GRK1 (in vitro) (PubMed:28524165).By similarity1 Publication
Contains one covalently linked retinal chromophore. Upon light absorption, the covalently bound 11-cis-retinal is converted to all-trans-retinal. After hydrolysis of the Schiff base and release of the covalently bound all-trans-retinal, active rhodopsin is regenerated by binding of a fresh molecule of 11-cis-retinal(PubMed:12566452).1 Publication
Keywords - PTMi
Acetylation, Disulfide bond, Glycoprotein, Lipoprotein, Palmitate, PhosphoproteinProteomic databases
| PaxDbi | P08100 |
| PeptideAtlasi | P08100 |
| PRIDEi | P08100 |
| ProteomicsDBi | 52066 |
PTM databases
| GlyConnecti | 525 |
| iPTMneti | P08100 |
| PhosphoSitePlusi | P08100 |
| SwissPalmi | P08100 |
| UniCarbKBi | P08100 |
Expressioni
Tissue specificityi
Rod shaped photoreceptor cells which mediate vision in dim light.
Gene expression databases
| Bgeei | ENSG00000163914 Expressed in 87 organ(s), highest expression level in retina |
| CleanExi | HS_RHO |
| Genevisiblei | P08100 HS |
Organism-specific databases
| HPAi | CAB022486 CAB034887 CAB034888 HPA013440 |
Interactioni
Subunit structurei
Homodimer (By similarity). Interacts (phosphorylated form) with SAG (PubMed:28524165, PubMed:26200343, PubMed:28753425). Interacts with GNAT1 (PubMed:26200343). Interacts with GNAT3. SAG and G-proteins compete for a common binding site (By similarity). Interacts with GRK1 (PubMed:28524165).By similarity3 Publications
Binary interactionsi
| With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| ZFYVE9 | O95405 | 2 | EBI-1394177,EBI-296817 |
Protein-protein interaction databases
| BioGridi | 111942, 11 interactors |
| IntActi | P08100, 4 interactors |
| STRINGi | 9606.ENSP00000296271 |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
| ProteinModelPortali | P08100 |
| SMRi | P08100 |
| ModBasei | Search... |
| MobiDBi | Search... |
Family & Domainsi
Region
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Regioni | 330 – 348 | Interaction with SAG2 PublicationsAdd BLAST | 19 |
Motif
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Motifi | 134 – 136 | 'Ionic lock' involved in activated form stabilization1 Publication | 3 |
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
| 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:rs104893786EnsemblClinVar. | 1 | |
| Natural variantiVAR_004767 | 17 | T → M in RP4. 2 PublicationsCorresponds to variant dbSNP:rs104893769EnsemblClinVar. | 1 | |
| Natural variantiVAR_004768 | 23 | P → H in RP4; most common variant; impairs protein folding; leads to interaction with EDEM1 followed by degradation by the ERAD system. 5 PublicationsCorresponds to variant dbSNP:rs104893768EnsemblClinVar. | 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:rs104893770EnsemblClinVar. | 1 | |
| Natural variantiVAR_004774 | 46 | L → R in RP4. | 1 | |
| Natural variantiVAR_004775 | 51 | G → A1 PublicationCorresponds to variant dbSNP:rs149079952EnsemblClinVar. | 1 | |
| Natural variantiVAR_004776 | 51 | G → R in RP4. Corresponds to variant dbSNP:rs104893792EnsemblClinVar. | 1 | |
| Natural variantiVAR_004777 | 51 | G → V in RP4. | 1 | |
| Natural variantiVAR_004778 | 53 | P → R in RP4. Corresponds to variant dbSNP:rs28933395EnsemblClinVar. | 1 | |
| Natural variantiVAR_004779 | 58 | T → R in RP4. 2 PublicationsCorresponds to variant dbSNP:rs28933394EnsemblClinVar. | 1 | |
| Natural variantiVAR_004780 | 68 – 71 | Missing in RP4. | 4 | |
| Natural variantiVAR_004781 | 87 | V → D in RP4. Corresponds to variant dbSNP:rs104893771EnsemblClinVar. | 1 | |
| Natural variantiVAR_004782 | 89 | G → D in RP4. Corresponds to variant dbSNP:rs104893772EnsemblClinVar. | 1 | |
| Natural variantiVAR_004783 | 90 | G → D in CSNBAD1; constitutive activity in the absence of bound retinal. 2 PublicationsCorresponds to variant dbSNP:rs104893790EnsemblClinVar. | 1 | |
| Natural variantiVAR_004784 | 94 | T → I in CSNBAD1. 1 PublicationCorresponds to variant dbSNP:rs104893796EnsemblClinVar. | 1 | |
| Natural variantiVAR_004785 | 104 | V → I Found in patients with pathologic myopia; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs144317206Ensembl. | 1 | |
| Natural variantiVAR_004786 | 106 | G → R in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893773EnsemblClinVar. | 1 | |
| Natural variantiVAR_004787 | 106 | G → W in RP4. Corresponds to variant dbSNP:rs104893773EnsemblClinVar. | 1 | |
| Natural variantiVAR_004788 | 109 | G → R in RP4. 1 PublicationCorresponds to variant dbSNP:rs1415160298Ensembl. | 1 | |
| Natural variantiVAR_004789 | 110 | C → F in RP4. 1 Publication | 1 | |
| Natural variantiVAR_004790 | 110 | C → Y in RP4. Corresponds to variant dbSNP:rs104893787EnsemblClinVar. | 1 | |
| Natural variantiVAR_004791 | 114 | G → D in RP4. Corresponds to variant dbSNP:rs104893788EnsemblClinVar. | 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:rs104893774EnsemblClinVar. | 1 | |
| Natural variantiVAR_004797 | 135 | R → W in RP4. 2 PublicationsCorresponds to variant dbSNP:rs104893775EnsemblClinVar. | 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:rs104893791EnsemblClinVar. | 1 | |
| Natural variantiVAR_004800 | 164 | A → E in RP4. Corresponds to variant dbSNP:rs104893793EnsemblClinVar. | 1 | |
| Natural variantiVAR_004801 | 164 | A → V in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893793EnsemblClinVar. | 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:rs104893794EnsemblClinVar. | 1 | |
| Natural variantiVAR_004806 | 178 | Y → C in RP4. Corresponds to variant dbSNP:rs104893776EnsemblClinVar. | 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. Corresponds to variant dbSNP:rs775557680EnsemblClinVar. | 1 | |
| Natural variantiVAR_004809 | 182 | G → S in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893780EnsemblClinVar. | 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:rs527236100EnsemblClinVar. | 1 | |
| Natural variantiVAR_004814 | 190 | D → G in RP4. Corresponds to variant dbSNP:rs104893777EnsemblClinVar. | 1 | |
| Natural variantiVAR_004813 | 190 | D → N in RP4. Corresponds to variant dbSNP:rs104893779EnsemblClinVar. | 1 | |
| Natural variantiVAR_004815 | 190 | D → Y in RP4. Corresponds to variant dbSNP:rs104893779EnsemblClinVar. | 1 | |
| Natural variantiVAR_004816 | 207 | M → R in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893782EnsemblClinVar. | 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:rs28933993EnsemblClinVar. | 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:rs104893781EnsemblClinVar. | 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:rs104893789EnsemblClinVar. | 1 | |
| Natural variantiVAR_004828 | 296 | K → E in RP4. Corresponds to variant dbSNP:rs29001653EnsemblClinVar. | 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:rs104893795EnsemblClinVar. | 1 | |
| Natural variantiVAR_004832 | 345 | V → M in RP4. Corresponds to variant dbSNP:rs104893795EnsemblClinVar. | 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:rs29001566EnsemblClinVar. | 1 | |
| Natural variantiVAR_004835 | 347 | P → Q in RP4. Corresponds to variant dbSNP:rs29001566EnsemblClinVar. | 1 | |
| Natural variantiVAR_004836 | 347 | P → R in RP4. 1 PublicationCorresponds to variant dbSNP:rs29001566EnsemblClinVar. | 1 | |
| Natural variantiVAR_004837 | 347 | P → S in RP4. 1 PublicationCorresponds to variant dbSNP:rs29001637EnsemblClinVar. | 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
Cross-referencesi
Web resourcesi
| Mutations of the RHO gene Retina International's Scientific Newsletter |
| Wikipedia Rhodopsin entry |
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 |
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 | [»] | |
| 5W0P | X-ray | 3.01 | A/B/C/D | 1-348 | [»] | |
| 6CMO | electron microscopy | 4.50 | R | 3-323 | [»] | |
| ProteinModelPortali | P08100 | |||||
| SMRi | P08100 | |||||
| ModBasei | Search... | |||||
| MobiDBi | Search... | |||||
Protein-protein interaction databases
| BioGridi | 111942, 11 interactors |
| IntActi | P08100, 4 interactors |
| STRINGi | 9606.ENSP00000296271 |
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 |
Protein family/group databases
| TCDBi | 9.A.14.1.2 the g-protein-coupled receptor (gpcr) family |
| GPCRDBi | Search... |
PTM databases
| GlyConnecti | 525 |
| iPTMneti | P08100 |
| PhosphoSitePlusi | P08100 |
| SwissPalmi | P08100 |
| UniCarbKBi | P08100 |
Polymorphism and mutation databases
| BioMutai | RHO |
| DMDMi | 129207 |
Proteomic databases
| PaxDbi | P08100 |
| PeptideAtlasi | P08100 |
| PRIDEi | P08100 |
| ProteomicsDBi | 52066 |
Protocols and materials databases
| DNASUi | 6010 |
| Structural Biology Knowledgebase | Search... |
Genome annotation databases
| Ensembli | ENST00000296271; ENSP00000296271; ENSG00000163914 |
| GeneIDi | 6010 |
| KEGGi | hsa:6010 |
| UCSCi | uc003emt.4 human |
Organism-specific databases
| CTDi | 6010 |
| DisGeNETi | 6010 |
| EuPathDBi | HostDB:ENSG00000163914.4 |
| GeneCardsi | RHO |
| GeneReviewsi | RHO |
| HGNCi | HGNC:10012 RHO |
| HPAi | CAB022486 CAB034887 CAB034888 HPA013440 |
| MalaCardsi | RHO |
| MIMi | 180380 gene 610445 phenotype 613731 phenotype |
| neXtProti | NX_P08100 |
| OpenTargetsi | ENSG00000163914 |
| Orphaneti | 215 Congenital stationary night blindness 791 Retinitis pigmentosa 52427 Retinitis punctata albescens |
| PharmGKBi | PA34390 |
| GenAtlasi | Search... |
Phylogenomic databases
| eggNOGi | KOG3656 Eukaryota ENOG410XRW9 LUCA |
| GeneTreei | ENSGT00760000118977 |
| HOGENOMi | HOG000253932 |
| HOVERGENi | HBG107442 |
| InParanoidi | P08100 |
| KOi | K04250 |
| OMAi | LAAYMFM |
| OrthoDBi | EOG091G0BDA |
| PhylomeDBi | P08100 |
| TreeFami | TF324998 |
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 |
Miscellaneous databases
| ChiTaRSi | RHO human |
| GeneWikii | Rhodopsin |
| GenomeRNAii | 6010 |
| PROi | PR:P08100 |
| SOURCEi | Search... |
Gene expression databases
| Bgeei | ENSG00000163914 Expressed in 87 organ(s), highest expression level in retina |
| CleanExi | HS_RHO |
| Genevisiblei | P08100 HS |
Family and domain databases
| 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 |
| ProtoNeti | Search... |
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: | October 10, 2018 | |
| This is version 207 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
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - 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 - 7-transmembrane G-linked receptors
List of 7-transmembrane G-linked receptor entries - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
