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Protein

Rhodopsin

Gene

RHO

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi201 – 2011ZincBy similarity
Binding sitei265 – 2651Retinal chromophoreBy similarity
Metal bindingi279 – 2791ZincBy similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

G-protein coupled receptor, Photoreceptor protein, Receptor, Retinal protein, Transducer

Keywords - Biological processi

Sensory transduction, Vision

Keywords - Ligandi

Chromophore, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-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.
SignaLinkiP08100.
SIGNORiP08100.

Protein family/group databases

TCDBi9.A.14.1.2. the g-protein-coupled receptor (gpcr) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Rhodopsin
Alternative name(s):
Opsin-2
Gene namesi
Name:RHO
Synonyms:OPN2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:10012. RHO.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 3636ExtracellularAdd
BLAST
Transmembranei37 – 6125Helical; Name=1Sequence analysisAdd
BLAST
Topological domaini62 – 7312CytoplasmicAdd
BLAST
Transmembranei74 – 9825Helical; Name=2Sequence analysisAdd
BLAST
Topological domaini99 – 11315ExtracellularAdd
BLAST
Transmembranei114 – 13320Helical; Name=3Sequence analysisAdd
BLAST
Topological domaini134 – 15219CytoplasmicAdd
BLAST
Transmembranei153 – 17624Helical; Name=4Sequence analysisAdd
BLAST
Topological domaini177 – 20226ExtracellularAdd
BLAST
Transmembranei203 – 23028Helical; Name=5Sequence analysisAdd
BLAST
Topological domaini231 – 25222CytoplasmicAdd
BLAST
Transmembranei253 – 27624Helical; Name=6Sequence analysisAdd
BLAST
Topological domaini277 – 2848Extracellular
Transmembranei285 – 30925Helical; Name=7Sequence analysisAdd
BLAST
Topological domaini310 – 34839CytoplasmicAdd
BLAST

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
  • rough endoplasmic reticulum membrane Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 4 (RP4)24 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti4 – 41T → K in RP4.
VAR_004765
Natural varianti15 – 151N → S in RP4. 1 Publication
Corresponds to variant rs104893786 [ dbSNP | Ensembl ].
VAR_004766
Natural varianti17 – 171T → M in RP4. 2 Publications
Corresponds to variant rs104893769 [ dbSNP | Ensembl ].
VAR_004767
Natural varianti23 – 231P → H in RP4; most common variant; leads to interaction with EDEM1 followed by degradation by the ERAD system. 4 Publications
Corresponds to variant rs104893768 [ dbSNP | Ensembl ].
VAR_004768
Natural varianti23 – 231P → L in RP4.
VAR_004769
Natural varianti28 – 281Q → H in RP4.
VAR_004770
Natural varianti40 – 401L → R in RP4. 1 Publication
VAR_004771
Natural varianti44 – 441M → T in RP4. 1 Publication
Corresponds to variant rs774336493 [ dbSNP | Ensembl ].
VAR_004772
Natural varianti45 – 451F → L in RP4.
Corresponds to variant rs104893770 [ dbSNP | Ensembl ].
VAR_004773
Natural varianti46 – 461L → R in RP4.
VAR_004774
Natural varianti51 – 511G → R in RP4.
Corresponds to variant rs104893792 [ dbSNP | Ensembl ].
VAR_004776
Natural varianti51 – 511G → V in RP4.
VAR_004777
Natural varianti53 – 531P → R in RP4.
Corresponds to variant rs28933395 [ dbSNP | Ensembl ].
VAR_004778
Natural varianti58 – 581T → R in RP4. 2 Publications
Corresponds to variant rs28933394 [ dbSNP | Ensembl ].
VAR_004779
Natural varianti68 – 714Missing in RP4.
VAR_004780
Natural varianti87 – 871V → D in RP4.
Corresponds to variant rs104893771 [ dbSNP | Ensembl ].
VAR_004781
Natural varianti89 – 891G → D in RP4.
Corresponds to variant rs104893772 [ dbSNP | Ensembl ].
VAR_004782
Natural varianti106 – 1061G → R in RP4. 1 Publication
Corresponds to variant rs28933994 [ dbSNP | Ensembl ].
VAR_004786
Natural varianti106 – 1061G → W in RP4.
Corresponds to variant rs104893773 [ dbSNP | Ensembl ].
VAR_004787
Natural varianti109 – 1091G → R in RP4. 1 Publication
VAR_004788
Natural varianti110 – 1101C → F in RP4. 1 Publication
VAR_004789
Natural varianti110 – 1101C → Y in RP4.
Corresponds to variant rs104893787 [ dbSNP | Ensembl ].
VAR_004790
Natural varianti114 – 1141G → D in RP4.
Corresponds to variant rs104893788 [ dbSNP | Ensembl ].
VAR_004791
Natural varianti125 – 1251L → R in RP4.
VAR_004792
Natural varianti127 – 1271S → F in RP4. 1 Publication
VAR_004793
Natural varianti131 – 1311L → P in RP4. 2 Publications
VAR_004794
Natural varianti135 – 1351R → G in RP4. 1 Publication
VAR_004795
Natural varianti135 – 1351R → L in RP4.
Corresponds to variant rs104893774 [ dbSNP | Ensembl ].
VAR_004796
Natural varianti135 – 1351R → W in RP4. 2 Publications
Corresponds to variant rs104893775 [ dbSNP | Ensembl ].
VAR_004797
Natural varianti140 – 1401C → S in RP4. 1 Publication
VAR_004798
Natural varianti150 – 1501E → K in RP4; autosomal recessive. 2 Publications
Corresponds to variant rs104893791 [ dbSNP | Ensembl ].
VAR_004799
Natural varianti164 – 1641A → E in RP4.
Corresponds to variant rs104893793 [ dbSNP | Ensembl ].
VAR_004800
Natural varianti164 – 1641A → V in RP4. 1 Publication
Corresponds to variant rs104893793 [ dbSNP | Ensembl ].
VAR_004801
Natural varianti167 – 1671C → R in RP4.
VAR_004802
Natural varianti171 – 1711P → L in RP4.
VAR_004803
Natural varianti171 – 1711P → Q in RP4. 1 Publication
VAR_004804
Natural varianti171 – 1711P → S in RP4.
Corresponds to variant rs104893794 [ dbSNP | Ensembl ].
VAR_004805
Natural varianti178 – 1781Y → C in RP4.
Corresponds to variant rs104893776 [ dbSNP | Ensembl ].
VAR_004806
Natural varianti178 – 1781Y → N in RP4. 1 Publication
VAR_004807
Natural varianti180 – 1801P → S in RP4. 1 Publication
VAR_068359
Natural varianti181 – 1811E → K in RP4.
VAR_004808
Natural varianti182 – 1821G → S in RP4. 1 Publication
Corresponds to variant rs104893780 [ dbSNP | Ensembl ].
VAR_004809
Natural varianti186 – 1861S → P in RP4.
VAR_004810
Natural varianti188 – 1881G → E in RP4. 1 Publication
VAR_004811
Natural varianti188 – 1881G → R in RP4.
Corresponds to variant rs527236100 [ dbSNP | Ensembl ].
VAR_004812
Natural varianti190 – 1901D → G in RP4.
Corresponds to variant rs104893777 [ dbSNP | Ensembl ].
VAR_004814
Natural varianti190 – 1901D → N in RP4.
Corresponds to variant rs28933992 [ dbSNP | Ensembl ].
VAR_004813
Natural varianti190 – 1901D → Y in RP4.
Corresponds to variant rs104893779 [ dbSNP | Ensembl ].
VAR_004815
Natural varianti207 – 2071M → R in RP4. 1 Publication
Corresponds to variant rs28933995 [ dbSNP | Ensembl ].
VAR_004816
Natural varianti211 – 2111H → P in RP4.
Corresponds to variant rs28933993 [ dbSNP | Ensembl ].
VAR_004818
Natural varianti211 – 2111H → R in RP4. 1 Publication
VAR_004819
Natural varianti214 – 2141I → N in RP4. 1 Publication
VAR_068360
Natural varianti216 – 2161M → K in RP4. 1 Publication
VAR_004820
Natural varianti220 – 2201F → C in RP4.
Corresponds to variant rs766161322 [ dbSNP | Ensembl ].
VAR_004821
Natural varianti222 – 2221C → R in RP4.
VAR_004822
Natural varianti255 – 2551Missing in RP4. 1 Publication
VAR_004823
Natural varianti264 – 2641Missing in RP4.
VAR_004824
Natural varianti267 – 2671P → L in RP4. 1 Publication
Corresponds to variant rs104893781 [ dbSNP | Ensembl ].
VAR_004825
Natural varianti267 – 2671P → R in RP4. 1 Publication
VAR_004826
Natural varianti296 – 2961K → E in RP4.
Corresponds to variant rs29001653 [ dbSNP | Ensembl ].
VAR_004828
Natural varianti297 – 2971S → R in RP4. 1 Publication
VAR_004829
Natural varianti342 – 3421T → M in RP4.
Corresponds to variant rs183318466 [ dbSNP | Ensembl ].
VAR_004830
Natural varianti345 – 3451V → L in RP4. 1 Publication
Corresponds to variant rs104893795 [ dbSNP | Ensembl ].
VAR_004831
Natural varianti345 – 3451V → M in RP4.
Corresponds to variant rs104893795 [ dbSNP | Ensembl ].
VAR_004832
Natural varianti347 – 3471P → A in RP4. 1 Publication
VAR_004833
Natural varianti347 – 3471P → L in RP4; common variant. 2 Publications
Corresponds to variant rs29001566 [ dbSNP | Ensembl ].
VAR_004834
Natural varianti347 – 3471P → Q in RP4.
Corresponds to variant rs29001566 [ dbSNP | Ensembl ].
VAR_004835
Natural varianti347 – 3471P → R in RP4. 1 Publication
Corresponds to variant rs29001566 [ dbSNP | Ensembl ].
VAR_004836
Natural varianti347 – 3471P → S in RP4. 1 Publication
Corresponds to variant rs29001637 [ dbSNP | Ensembl ].
VAR_004837
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 keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti90 – 901G → D in CSNBAD1. 1 Publication
Corresponds to variant rs104893790 [ dbSNP | Ensembl ].
VAR_004783
Natural varianti94 – 941T → I in CSNBAD1. 1 Publication
Corresponds to variant rs104893796 [ dbSNP | Ensembl ].
VAR_004784
Natural varianti292 – 2921A → E in CSNBAD1. 1 Publication
Corresponds to variant rs104893789 [ dbSNP | Ensembl ].
VAR_004827

Keywords - Diseasei

Congenital stationary night blindness, Disease mutation, Retinitis pigmentosa

Organism-specific databases

MalaCardsiRHO.
MIMi610445. phenotype.
613731. phenotype.
Orphaneti215. Congenital stationary night blindness.
791. Retinitis pigmentosa.
52427. Retinitis punctata albescens.
PharmGKBiPA34390.

Chemistry

DrugBankiDB01159. Halothane.

Polymorphism and mutation databases

BioMutaiRHO.
DMDMi129207.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 348348RhodopsinPRO_0000197677Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionineBy similarity
Glycosylationi2 – 21N-linked (GlcNAc...)By similarity
Glycosylationi15 – 151N-linked (GlcNAc...)By similarity
Disulfide bondi110 ↔ 187PROSITE-ProRule annotation
Modified residuei296 – 2961N6-(retinylidene)lysineBy similarity
Lipidationi322 – 3221S-palmitoyl cysteineBy similarity
Lipidationi323 – 3231S-palmitoyl cysteineBy similarity
Modified residuei334 – 3341PhosphoserineBy similarity
Modified residuei336 – 3361PhosphothreonineBy similarity
Modified residuei338 – 3381PhosphoserineBy similarity
Modified residuei340 – 3401PhosphothreonineBy similarity
Modified residuei342 – 3421PhosphothreonineBy similarity
Modified residuei343 – 3431PhosphoserineBy similarity

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, Phosphoprotein

Proteomic databases

PaxDbiP08100.
PeptideAtlasiP08100.
PRIDEiP08100.

PTM databases

iPTMnetiP08100.
PhosphoSiteiP08100.
UniCarbKBiP08100.

Expressioni

Tissue specificityi

Rod shaped photoreceptor cells which mediates vision in dim light.

Gene expression databases

BgeeiENSG00000163914.
CleanExiHS_RHO.
GenevisibleiP08100. HS.

Interactioni

Subunit structurei

Homodimer.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
ZFYVE9O954052EBI-1394177,EBI-296817

Protein-protein interaction databases

BioGridi111942. 11 interactions.
IntActiP08100. 3 interactions.
STRINGi9606.ENSP00000296271.

Structurei

Secondary structure

1
348
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi2 – 54Combined sources
Beta strandi10 – 134Combined sources
Beta strandi16 – 183Combined sources
Turni23 – 253Combined sources
Turni29 – 313Combined sources
Helixi34 – 6431Combined sources
Beta strandi66 – 683Combined sources
Helixi71 – 8818Combined sources
Helixi91 – 10010Combined sources
Helixi106 – 14035Combined sources
Helixi144 – 1474Combined sources
Helixi150 – 16819Combined sources
Turni170 – 1734Combined sources
Beta strandi174 – 1763Combined sources
Beta strandi178 – 1803Combined sources
Turni182 – 1843Combined sources
Beta strandi185 – 1895Combined sources
Turni196 – 1994Combined sources
Helixi200 – 23637Combined sources
Helixi241 – 27737Combined sources
Helixi285 – 30622Combined sources
Helixi311 – 32111Combined sources
Turni322 – 3243Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4ZWJX-ray3.30A/B/C/D1-348[»]
5DGYX-ray7.70A/B/C/D1-348[»]
ProteinModelPortaliP08100.
SMRiP08100. Positions 1-326.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni113 – 12513Retinal chromophore bindingBy similarityAdd
BLAST
Regioni207 – 2126Retinal chromophore bindingBy similarity

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi134 – 1374'Ionic lock' involved in activated form stabilization

Sequence similaritiesi

Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3656. Eukaryota.
ENOG410XRW9. LUCA.
GeneTreeiENSGT00760000118977.
HOGENOMiHOG000253932.
HOVERGENiHBG107442.
InParanoidiP08100.
KOiK04250.
OMAiLAAYMFM.
OrthoDBiEOG091G0BDA.
PhylomeDBiP08100.
TreeFamiTF324998.

Family and domain databases

Gene3Di4.10.840.10. 1 hit.
InterProiIPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
IPR001760. Opsin.
IPR027430. Retinal_BS.
IPR000732. Rhodopsin.
IPR019477. Rhodopsin_N.
[Graphical view]
PfamiPF00001. 7tm_1. 1 hit.
PF10413. Rhodopsin_N. 1 hit.
[Graphical view]
PRINTSiPR00237. GPCRRHODOPSN.
PR00238. OPSIN.
PR00579. RHODOPSIN.
SMARTiSM01381. 7TM_GPCR_Srsx. 1 hit.
[Graphical view]
PROSITEiPS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
PS00238. OPSIN. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P08100-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:348
Mass (Da):38,893
Last modified:August 1, 1988 - v1
Checksum:i6F4F6FCBA34265B2
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti4 – 41T → K in RP4.
VAR_004765
Natural varianti15 – 151N → S in RP4. 1 Publication
Corresponds to variant rs104893786 [ dbSNP | Ensembl ].
VAR_004766
Natural varianti17 – 171T → M in RP4. 2 Publications
Corresponds to variant rs104893769 [ dbSNP | Ensembl ].
VAR_004767
Natural varianti23 – 231P → H in RP4; most common variant; leads to interaction with EDEM1 followed by degradation by the ERAD system. 4 Publications
Corresponds to variant rs104893768 [ dbSNP | Ensembl ].
VAR_004768
Natural varianti23 – 231P → L in RP4.
VAR_004769
Natural varianti28 – 281Q → H in RP4.
VAR_004770
Natural varianti40 – 401L → R in RP4. 1 Publication
VAR_004771
Natural varianti44 – 441M → T in RP4. 1 Publication
Corresponds to variant rs774336493 [ dbSNP | Ensembl ].
VAR_004772
Natural varianti45 – 451F → L in RP4.
Corresponds to variant rs104893770 [ dbSNP | Ensembl ].
VAR_004773
Natural varianti46 – 461L → R in RP4.
VAR_004774
Natural varianti51 – 511G → A.1 Publication
Corresponds to variant rs149079952 [ dbSNP | Ensembl ].
VAR_004775
Natural varianti51 – 511G → R in RP4.
Corresponds to variant rs104893792 [ dbSNP | Ensembl ].
VAR_004776
Natural varianti51 – 511G → V in RP4.
VAR_004777
Natural varianti53 – 531P → R in RP4.
Corresponds to variant rs28933395 [ dbSNP | Ensembl ].
VAR_004778
Natural varianti58 – 581T → R in RP4. 2 Publications
Corresponds to variant rs28933394 [ dbSNP | Ensembl ].
VAR_004779
Natural varianti68 – 714Missing in RP4.
VAR_004780
Natural varianti87 – 871V → D in RP4.
Corresponds to variant rs104893771 [ dbSNP | Ensembl ].
VAR_004781
Natural varianti89 – 891G → D in RP4.
Corresponds to variant rs104893772 [ dbSNP | Ensembl ].
VAR_004782
Natural varianti90 – 901G → D in CSNBAD1. 1 Publication
Corresponds to variant rs104893790 [ dbSNP | Ensembl ].
VAR_004783
Natural varianti94 – 941T → I in CSNBAD1. 1 Publication
Corresponds to variant rs104893796 [ dbSNP | Ensembl ].
VAR_004784
Natural varianti104 – 1041V → I.1 Publication
Corresponds to variant rs144317206 [ dbSNP | Ensembl ].
VAR_004785
Natural varianti106 – 1061G → R in RP4. 1 Publication
Corresponds to variant rs28933994 [ dbSNP | Ensembl ].
VAR_004786
Natural varianti106 – 1061G → W in RP4.
Corresponds to variant rs104893773 [ dbSNP | Ensembl ].
VAR_004787
Natural varianti109 – 1091G → R in RP4. 1 Publication
VAR_004788
Natural varianti110 – 1101C → F in RP4. 1 Publication
VAR_004789
Natural varianti110 – 1101C → Y in RP4.
Corresponds to variant rs104893787 [ dbSNP | Ensembl ].
VAR_004790
Natural varianti114 – 1141G → D in RP4.
Corresponds to variant rs104893788 [ dbSNP | Ensembl ].
VAR_004791
Natural varianti125 – 1251L → R in RP4.
VAR_004792
Natural varianti127 – 1271S → F in RP4. 1 Publication
VAR_004793
Natural varianti131 – 1311L → P in RP4. 2 Publications
VAR_004794
Natural varianti135 – 1351R → G in RP4. 1 Publication
VAR_004795
Natural varianti135 – 1351R → L in RP4.
Corresponds to variant rs104893774 [ dbSNP | Ensembl ].
VAR_004796
Natural varianti135 – 1351R → W in RP4. 2 Publications
Corresponds to variant rs104893775 [ dbSNP | Ensembl ].
VAR_004797
Natural varianti140 – 1401C → S in RP4. 1 Publication
VAR_004798
Natural varianti150 – 1501E → K in RP4; autosomal recessive. 2 Publications
Corresponds to variant rs104893791 [ dbSNP | Ensembl ].
VAR_004799
Natural varianti164 – 1641A → E in RP4.
Corresponds to variant rs104893793 [ dbSNP | Ensembl ].
VAR_004800
Natural varianti164 – 1641A → V in RP4. 1 Publication
Corresponds to variant rs104893793 [ dbSNP | Ensembl ].
VAR_004801
Natural varianti167 – 1671C → R in RP4.
VAR_004802
Natural varianti171 – 1711P → L in RP4.
VAR_004803
Natural varianti171 – 1711P → Q in RP4. 1 Publication
VAR_004804
Natural varianti171 – 1711P → S in RP4.
Corresponds to variant rs104893794 [ dbSNP | Ensembl ].
VAR_004805
Natural varianti178 – 1781Y → C in RP4.
Corresponds to variant rs104893776 [ dbSNP | Ensembl ].
VAR_004806
Natural varianti178 – 1781Y → N in RP4. 1 Publication
VAR_004807
Natural varianti180 – 1801P → S in RP4. 1 Publication
VAR_068359
Natural varianti181 – 1811E → K in RP4.
VAR_004808
Natural varianti182 – 1821G → S in RP4. 1 Publication
Corresponds to variant rs104893780 [ dbSNP | Ensembl ].
VAR_004809
Natural varianti186 – 1861S → P in RP4.
VAR_004810
Natural varianti188 – 1881G → E in RP4. 1 Publication
VAR_004811
Natural varianti188 – 1881G → R in RP4.
Corresponds to variant rs527236100 [ dbSNP | Ensembl ].
VAR_004812
Natural varianti190 – 1901D → G in RP4.
Corresponds to variant rs104893777 [ dbSNP | Ensembl ].
VAR_004814
Natural varianti190 – 1901D → N in RP4.
Corresponds to variant rs28933992 [ dbSNP | Ensembl ].
VAR_004813
Natural varianti190 – 1901D → Y in RP4.
Corresponds to variant rs104893779 [ dbSNP | Ensembl ].
VAR_004815
Natural varianti207 – 2071M → R in RP4. 1 Publication
Corresponds to variant rs28933995 [ dbSNP | Ensembl ].
VAR_004816
Natural varianti209 – 2091V → M Found in a patient with retinitis pigmentosa; unknown pathological significance. 1 Publication
Corresponds to variant rs567288669 [ dbSNP | Ensembl ].
VAR_004817
Natural varianti211 – 2111H → P in RP4.
Corresponds to variant rs28933993 [ dbSNP | Ensembl ].
VAR_004818
Natural varianti211 – 2111H → R in RP4. 1 Publication
VAR_004819
Natural varianti214 – 2141I → N in RP4. 1 Publication
VAR_068360
Natural varianti216 – 2161M → K in RP4. 1 Publication
VAR_004820
Natural varianti220 – 2201F → C in RP4.
Corresponds to variant rs766161322 [ dbSNP | Ensembl ].
VAR_004821
Natural varianti222 – 2221C → R in RP4.
VAR_004822
Natural varianti255 – 2551Missing in RP4. 1 Publication
VAR_004823
Natural varianti264 – 2641Missing in RP4.
VAR_004824
Natural varianti267 – 2671P → L in RP4. 1 Publication
Corresponds to variant rs104893781 [ dbSNP | Ensembl ].
VAR_004825
Natural varianti267 – 2671P → R in RP4. 1 Publication
VAR_004826
Natural varianti292 – 2921A → E in CSNBAD1. 1 Publication
Corresponds to variant rs104893789 [ dbSNP | Ensembl ].
VAR_004827
Natural varianti296 – 2961K → E in RP4.
Corresponds to variant rs29001653 [ dbSNP | Ensembl ].
VAR_004828
Natural varianti297 – 2971S → R in RP4. 1 Publication
VAR_004829
Natural varianti342 – 3421T → M in RP4.
Corresponds to variant rs183318466 [ dbSNP | Ensembl ].
VAR_004830
Natural varianti345 – 3451V → L in RP4. 1 Publication
Corresponds to variant rs104893795 [ dbSNP | Ensembl ].
VAR_004831
Natural varianti345 – 3451V → M in RP4.
Corresponds to variant rs104893795 [ dbSNP | Ensembl ].
VAR_004832
Natural varianti347 – 3471P → A in RP4. 1 Publication
VAR_004833
Natural varianti347 – 3471P → L in RP4; common variant. 2 Publications
Corresponds to variant rs29001566 [ dbSNP | Ensembl ].
VAR_004834
Natural varianti347 – 3471P → Q in RP4.
Corresponds to variant rs29001566 [ dbSNP | Ensembl ].
VAR_004835
Natural varianti347 – 3471P → R in RP4. 1 Publication
Corresponds to variant rs29001566 [ dbSNP | Ensembl ].
VAR_004836
Natural varianti347 – 3471P → S in RP4. 1 Publication
Corresponds to variant rs29001637 [ dbSNP | Ensembl ].
VAR_004837

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.
CCDSiCCDS3063.1.
PIRiA41200. OOHU.
RefSeqiNP_000530.1. NM_000539.3.
UniGeneiHs.247565.

Genome annotation databases

EnsembliENST00000296271; ENSP00000296271; ENSG00000163914.
GeneIDi6010.
KEGGihsa:6010.
UCSCiuc003emt.4. human.

Keywords - Coding sequence diversityi

Polymorphism

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.
CCDSiCCDS3063.1.
PIRiA41200. OOHU.
RefSeqiNP_000530.1. NM_000539.3.
UniGeneiHs.247565.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4ZWJX-ray3.30A/B/C/D1-348[»]
5DGYX-ray7.70A/B/C/D1-348[»]
ProteinModelPortaliP08100.
SMRiP08100. Positions 1-326.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111942. 11 interactions.
IntActiP08100. 3 interactions.
STRINGi9606.ENSP00000296271.

Chemistry

DrugBankiDB01159. Halothane.

Protein family/group databases

TCDBi9.A.14.1.2. the g-protein-coupled receptor (gpcr) family.
GPCRDBiSearch...

PTM databases

iPTMnetiP08100.
PhosphoSiteiP08100.
UniCarbKBiP08100.

Polymorphism and mutation databases

BioMutaiRHO.
DMDMi129207.

Proteomic databases

PaxDbiP08100.
PeptideAtlasiP08100.
PRIDEiP08100.

Protocols and materials databases

DNASUi6010.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000296271; ENSP00000296271; ENSG00000163914.
GeneIDi6010.
KEGGihsa:6010.
UCSCiuc003emt.4. human.

Organism-specific databases

CTDi6010.
GeneCardsiRHO.
GeneReviewsiRHO.
HGNCiHGNC:10012. RHO.
MalaCardsiRHO.
MIMi180380. gene.
610445. phenotype.
613731. phenotype.
neXtProtiNX_P08100.
Orphaneti215. Congenital stationary night blindness.
791. Retinitis pigmentosa.
52427. Retinitis punctata albescens.
PharmGKBiPA34390.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3656. Eukaryota.
ENOG410XRW9. LUCA.
GeneTreeiENSGT00760000118977.
HOGENOMiHOG000253932.
HOVERGENiHBG107442.
InParanoidiP08100.
KOiK04250.
OMAiLAAYMFM.
OrthoDBiEOG091G0BDA.
PhylomeDBiP08100.
TreeFamiTF324998.

Enzyme and pathway databases

ReactomeiR-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.
SignaLinkiP08100.
SIGNORiP08100.

Miscellaneous databases

ChiTaRSiRHO. human.
GeneWikiiRhodopsin.
GenomeRNAii6010.
PROiP08100.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163914.
CleanExiHS_RHO.
GenevisibleiP08100. HS.

Family and domain databases

Gene3Di4.10.840.10. 1 hit.
InterProiIPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
IPR001760. Opsin.
IPR027430. Retinal_BS.
IPR000732. Rhodopsin.
IPR019477. Rhodopsin_N.
[Graphical view]
PfamiPF00001. 7tm_1. 1 hit.
PF10413. Rhodopsin_N. 1 hit.
[Graphical view]
PRINTSiPR00237. GPCRRHODOPSN.
PR00238. OPSIN.
PR00579. RHODOPSIN.
SMARTiSM01381. 7TM_GPCR_Srsx. 1 hit.
[Graphical view]
PROSITEiPS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
PS00238. OPSIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiOPSD_HUMAN
AccessioniPrimary (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: September 7, 2016
This is version 188 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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 proteome

Documents

  1. 7-transmembrane G-linked receptors
    List of 7-transmembrane G-linked receptor entries
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

Similar 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.