UniProtKB - P08100 (OPSD_HUMAN)
Rhodopsin
RHO
Functioni
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
- cellular response to light stimulus Source: GO_Central
- G protein-coupled receptor signaling pathway Source: UniProtKB
- photoreceptor cell maintenance Source: Ensembl
- phototransduction Source: GO_Central
- 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
PathwayCommonsi | P08100 |
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
Other locations
- Membrane 5 Publications; Multi-pass membrane protein 3 Publications
- photoreceptor outer segment 1 Publication
Note: Synthesized in the inner segment (IS) of rod photoreceptor cells before vectorial transport to disk membranes in the rod outer segment (OS) photosensory cilia.1 Publication
Golgi apparatus
- Golgi apparatus Source: MGI
- Golgi membrane Source: Reactome
Plasma Membrane
- ciliary membrane Source: Reactome
- integral component of plasma membrane Source: GO_Central
- photoreceptor inner segment membrane Source: UniProtKB
- photoreceptor outer segment membrane Source: UniProtKB
- plasma membrane Source: UniProtKB
Other locations
- cell-cell junction Source: Ensembl
- Golgi-associated vesicle membrane Source: Reactome
- integral component of membrane Source: UniProtKB
- photoreceptor disc membrane Source: UniProtKB
- photoreceptor inner segment Source: MGI
- photoreceptor outer segment Source: MGI
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
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 PublicationsCorresponds to variant dbSNP:rs1553781140EnsemblClinVar. | 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 PublicationCorresponds to variant dbSNP:rs1424131846EnsemblClinVar. | 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 PublicationCorresponds to variant dbSNP:rs142285818EnsemblClinVar. | 1 | |
Natural variantiVAR_004830 | 342 | T → M in RP4. Corresponds to variant dbSNP:rs183318466EnsemblClinVar. | 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
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 |
Miscellaneous databases
Pharosi | P08100, Tbio |
Chemistry databases
ChEMBLi | CHEMBL4296308 |
DrugBanki | DB04233, (Hydroxyethyloxy)Tri(Ethyloxy)Octane DB01728, 1,2-dihexadecanoyl-sn-glycero-3-phosphoethanolamine DB03152, B-2-Octylglucoside DB02451, B-nonylglucoside DB04522, Dexfosfoserine DB04147, Dodecyldimethylamine N-oxide DB01159, Halothane DB04079, Heptane-1,2,3-Triol DB04450, Heptyl 1-Thiohexopyranoside DB03381, Hexadecanal DB01646, N-Acetylmethionine DB03796, Palmitic Acid 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
Keywords - PTMi
Acetylation, Disulfide bond, Glycoprotein, Lipoprotein, Palmitate, PhosphoproteinProteomic databases
MassIVEi | P08100 |
PaxDbi | P08100 |
PeptideAtlasi | P08100 |
PRIDEi | P08100 |
ProteomicsDBi | 52066 |
PTM databases
GlyConnecti | 525, 12 N-Linked glycans |
GlyGeni | P08100, 2 sites |
iPTMneti | P08100 |
PhosphoSitePlusi | P08100 |
SwissPalmi | P08100 |
UniCarbKBi | P08100 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000163914, Expressed in retina and 92 other tissues |
Genevisiblei | P08100, HS |
Organism-specific databases
HPAi | ENSG00000163914, Tissue enriched (retina) |
Interactioni
Subunit structurei
Homodimer (By similarity). May form a complex composed of RHO, GRK1 and RCVRN in a Ca2+-dependent manner; RCVRN prevents the interaction between GRK1 and RHO (By similarity).
Interacts with GRK1 (PubMed:28524165).
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 (PubMed:26200343).
Interacts with PRCD; the interaction promotes PRCD stability (By similarity).
By similarity3 PublicationsBinary interactionsi
Hide detailsProtein-protein interaction databases
BioGRIDi | 111942, 12 interactors |
IntActi | P08100, 4 interactors |
STRINGi | 9606.ENSP00000296271 |
Miscellaneous databases
RNActi | P08100, protein |
Structurei
Secondary structure
3D structure databases
SMRi | P08100 |
ModBasei | Search... |
PDBe-KBi | 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 |
GeneTreei | ENSGT00960000186618 |
HOGENOMi | CLU_009579_3_0_1 |
InParanoidi | P08100 |
OMAi | EQPQYYL |
OrthoDBi | 940057at2759 |
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 |
i Sequence
Sequence statusi: Complete.
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 PublicationsCorresponds to variant dbSNP:rs1553781140EnsemblClinVar. | 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 PublicationCorresponds to variant dbSNP:rs1424131846EnsemblClinVar. | 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 PublicationCorresponds to variant dbSNP:rs142285818EnsemblClinVar. | 1 | |
Natural variantiVAR_004830 | 342 | T → M in RP4. Corresponds to variant dbSNP:rs183318466EnsemblClinVar. | 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 |
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 |
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 | [»] | |
SMRi | P08100 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 111942, 12 interactors |
IntActi | P08100, 4 interactors |
STRINGi | 9606.ENSP00000296271 |
Chemistry databases
ChEMBLi | CHEMBL4296308 |
DrugBanki | DB04233, (Hydroxyethyloxy)Tri(Ethyloxy)Octane DB01728, 1,2-dihexadecanoyl-sn-glycero-3-phosphoethanolamine DB03152, B-2-Octylglucoside DB02451, B-nonylglucoside DB04522, Dexfosfoserine DB04147, Dodecyldimethylamine N-oxide DB01159, Halothane DB04079, Heptane-1,2,3-Triol DB04450, Heptyl 1-Thiohexopyranoside DB03381, Hexadecanal DB01646, N-Acetylmethionine DB03796, Palmitic Acid 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, 12 N-Linked glycans |
GlyGeni | P08100, 2 sites |
iPTMneti | P08100 |
PhosphoSitePlusi | P08100 |
SwissPalmi | P08100 |
UniCarbKBi | P08100 |
Polymorphism and mutation databases
BioMutai | RHO |
DMDMi | 129207 |
Proteomic databases
MassIVEi | P08100 |
PaxDbi | P08100 |
PeptideAtlasi | P08100 |
PRIDEi | P08100 |
ProteomicsDBi | 52066 |
Protocols and materials databases
Antibodypediai | 17456, 522 antibodies |
DNASUi | 6010 |
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 | ENSG00000163914, Tissue enriched (retina) |
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 |
GeneTreei | ENSGT00960000186618 |
HOGENOMi | CLU_009579_3_0_1 |
InParanoidi | P08100 |
OMAi | EQPQYYL |
OrthoDBi | 940057at2759 |
PhylomeDBi | P08100 |
TreeFami | TF324998 |
Enzyme and pathway databases
PathwayCommonsi | P08100 |
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
BioGRID-ORCSi | 6010, 4 hits in 839 CRISPR screens |
ChiTaRSi | RHO, human |
GeneWikii | Rhodopsin |
GenomeRNAii | 6010 |
Pharosi | P08100, Tbio |
PROi | PR:P08100 |
RNActi | P08100, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000163914, Expressed in retina and 92 other tissues |
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... |
MobiDBi | 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: | December 2, 2020 | |
This is version 224 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, Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - 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 - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - 7-transmembrane G-linked receptors
List of 7-transmembrane G-linked receptor entries