Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
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)DescriptionActionsGraphical viewLength
Metal bindingi201ZincBy similarity1
Binding sitei265Retinal chromophoreBy similarity1
Metal bindingi279ZincBy similarity1

GO - Molecular functioni

  • G-protein coupled photoreceptor activity Source: GO_Central
  • G-protein coupled receptor activity Source: ProtInc
  • metal ion binding Source: UniProtKB-KW

GO - Biological processi

Keywordsi

Molecular functionG-protein coupled receptor, Photoreceptor protein, Receptor, Retinal protein, Transducer
Biological processSensory transduction, Vision
LigandChromophore, 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

EuPathDBiHostDB:ENSG00000163914.4.
HGNCiHGNC:10012. RHO.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 36ExtracellularAdd BLAST36
Transmembranei37 – 61Helical; Name=1Sequence analysisAdd BLAST25
Topological domaini62 – 73CytoplasmicAdd BLAST12
Transmembranei74 – 98Helical; Name=2Sequence analysisAdd BLAST25
Topological domaini99 – 113ExtracellularAdd BLAST15
Transmembranei114 – 133Helical; Name=3Sequence analysisAdd BLAST20
Topological domaini134 – 152CytoplasmicAdd BLAST19
Transmembranei153 – 176Helical; Name=4Sequence analysisAdd BLAST24
Topological domaini177 – 202ExtracellularAdd BLAST26
Transmembranei203 – 230Helical; Name=5Sequence analysisAdd BLAST28
Topological domaini231 – 252CytoplasmicAdd BLAST22
Transmembranei253 – 276Helical; Name=6Sequence analysisAdd BLAST24
Topological domaini277 – 284Extracellular8
Transmembranei285 – 309Helical; Name=7Sequence analysisAdd BLAST25
Topological domaini310 – 348CytoplasmicAdd BLAST39

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 4 (RP4)25 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
See also OMIM:613731
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0047654T → K in RP4. 1
Natural variantiVAR_00476615N → S in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893786Ensembl.1
Natural variantiVAR_00476717T → M in RP4. 2 PublicationsCorresponds to variant dbSNP:rs104893769Ensembl.1
Natural variantiVAR_00476823P → H in RP4; most common variant; leads to interaction with EDEM1 followed by degradation by the ERAD system. 4 PublicationsCorresponds to variant dbSNP:rs104893768Ensembl.1
Natural variantiVAR_00476923P → L in RP4. 1
Natural variantiVAR_00477028Q → H in RP4. 1
Natural variantiVAR_00477140L → R in RP4. 1 Publication1
Natural variantiVAR_00477244M → T in RP4. 1 PublicationCorresponds to variant dbSNP:rs774336493Ensembl.1
Natural variantiVAR_00477345F → L in RP4. Corresponds to variant dbSNP:rs104893770Ensembl.1
Natural variantiVAR_00477446L → R in RP4. 1
Natural variantiVAR_00477651G → R in RP4. Corresponds to variant dbSNP:rs104893792Ensembl.1
Natural variantiVAR_00477751G → V in RP4. 1
Natural variantiVAR_00477853P → R in RP4. Corresponds to variant dbSNP:rs28933395Ensembl.1
Natural variantiVAR_00477958T → R in RP4. 2 PublicationsCorresponds to variant dbSNP:rs28933394Ensembl.1
Natural variantiVAR_00478068 – 71Missing in RP4. 4
Natural variantiVAR_00478187V → D in RP4. Corresponds to variant dbSNP:rs104893771Ensembl.1
Natural variantiVAR_00478289G → D in RP4. Corresponds to variant dbSNP:rs104893772Ensembl.1
Natural variantiVAR_004786106G → R in RP4. 1 PublicationCorresponds to variant dbSNP:rs28933994Ensembl.1
Natural variantiVAR_004787106G → W in RP4. Corresponds to variant dbSNP:rs104893773Ensembl.1
Natural variantiVAR_004788109G → R in RP4. 1 Publication1
Natural variantiVAR_004789110C → F in RP4. 1 Publication1
Natural variantiVAR_004790110C → Y in RP4. Corresponds to variant dbSNP:rs104893787Ensembl.1
Natural variantiVAR_004791114G → D in RP4. Corresponds to variant dbSNP:rs104893788Ensembl.1
Natural variantiVAR_004792125L → R in RP4. 1
Natural variantiVAR_004793127S → F in RP4. 1 Publication1
Natural variantiVAR_004794131L → P in RP4. 2 Publications1
Natural variantiVAR_004795135R → G in RP4. 1 Publication1
Natural variantiVAR_004796135R → L in RP4. Corresponds to variant dbSNP:rs104893774Ensembl.1
Natural variantiVAR_004797135R → W in RP4. 2 PublicationsCorresponds to variant dbSNP:rs104893775Ensembl.1
Natural variantiVAR_004798140C → S in RP4. 1 Publication1
Natural variantiVAR_004799150E → K in RP4; autosomal recessive. 2 PublicationsCorresponds to variant dbSNP:rs104893791Ensembl.1
Natural variantiVAR_004800164A → E in RP4. Corresponds to variant dbSNP:rs104893793Ensembl.1
Natural variantiVAR_004801164A → V in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893793Ensembl.1
Natural variantiVAR_004802167C → R in RP4. 1
Natural variantiVAR_004803171P → L in RP4. 1
Natural variantiVAR_004804171P → Q in RP4. 1 Publication1
Natural variantiVAR_004805171P → S in RP4. Corresponds to variant dbSNP:rs104893794Ensembl.1
Natural variantiVAR_004806178Y → C in RP4. Corresponds to variant dbSNP:rs104893776Ensembl.1
Natural variantiVAR_004807178Y → N in RP4. 1 Publication1
Natural variantiVAR_068359180P → S in RP4. 1 Publication1
Natural variantiVAR_004808181E → K in RP4. 1
Natural variantiVAR_004809182G → S in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893780Ensembl.1
Natural variantiVAR_004810186S → P in RP4. 1
Natural variantiVAR_004811188G → E in RP4. 1 Publication1
Natural variantiVAR_004812188G → R in RP4. Corresponds to variant dbSNP:rs527236100Ensembl.1
Natural variantiVAR_004814190D → G in RP4. Corresponds to variant dbSNP:rs104893777Ensembl.1
Natural variantiVAR_004813190D → N in RP4. Corresponds to variant dbSNP:rs28933992Ensembl.1
Natural variantiVAR_004815190D → Y in RP4. Corresponds to variant dbSNP:rs104893779Ensembl.1
Natural variantiVAR_004816207M → R in RP4. 1 PublicationCorresponds to variant dbSNP:rs28933995Ensembl.1
Natural variantiVAR_004818211H → P in RP4. Corresponds to variant dbSNP:rs28933993Ensembl.1
Natural variantiVAR_004819211H → R in RP4. 1 Publication1
Natural variantiVAR_068360214I → N in RP4. 1 Publication1
Natural variantiVAR_004820216M → K in RP4. 1 Publication1
Natural variantiVAR_004821220F → C in RP4. Corresponds to variant dbSNP:rs766161322Ensembl.1
Natural variantiVAR_004822222C → R in RP4. 1
Natural variantiVAR_004823255Missing in RP4. 1 Publication1
Natural variantiVAR_004824264Missing in RP4. 1
Natural variantiVAR_004825267P → L in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893781Ensembl.1
Natural variantiVAR_004826267P → R in RP4. 1 Publication1
Natural variantiVAR_004828296K → E in RP4. Corresponds to variant dbSNP:rs29001653Ensembl.1
Natural variantiVAR_004829297S → R in RP4. 1 Publication1
Natural variantiVAR_004830342T → M in RP4. Corresponds to variant dbSNP:rs183318466Ensembl.1
Natural variantiVAR_004831345V → L in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893795Ensembl.1
Natural variantiVAR_004832345V → M in RP4. Corresponds to variant dbSNP:rs104893795Ensembl.1
Natural variantiVAR_004833347P → A in RP4. 1 Publication1
Natural variantiVAR_004834347P → L in RP4; common variant. 2 PublicationsCorresponds to variant dbSNP:rs29001566Ensembl.1
Natural variantiVAR_004835347P → Q in RP4. Corresponds to variant dbSNP:rs29001566Ensembl.1
Natural variantiVAR_004836347P → R in RP4. 1 PublicationCorresponds to variant dbSNP:rs29001566Ensembl.1
Natural variantiVAR_004837347P → S in RP4. 1 PublicationCorresponds to variant dbSNP:rs29001637Ensembl.1
Night blindness, congenital stationary, autosomal dominant 1 (CSNBAD1)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.
See also OMIM:610445
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00478390G → D in CSNBAD1. 1 PublicationCorresponds to variant dbSNP:rs104893790Ensembl.1
Natural variantiVAR_00478494T → I in CSNBAD1. 1 PublicationCorresponds to variant dbSNP:rs104893796Ensembl.1
Natural variantiVAR_004827292A → E in CSNBAD1. 1 PublicationCorresponds to variant dbSNP:rs104893789Ensembl.1

Keywords - Diseasei

Congenital stationary night blindness, Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNETi6010.
GeneReviewsiRHO.
MalaCardsiRHO.
MIMi610445. phenotype.
613731. phenotype.
OpenTargetsiENSG00000163914.
Orphaneti215. Congenital stationary night blindness.
791. Retinitis pigmentosa.
52427. Retinitis punctata albescens.
PharmGKBiPA34390.

Chemistry databases

DrugBankiDB04233. (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

BioMutaiRHO.
DMDMi129207.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001976771 – 348RhodopsinAdd BLAST348

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineBy similarity1
Glycosylationi2N-linked (GlcNAc...) asparagineBy similarity1
Glycosylationi15N-linked (GlcNAc...) asparagineBy similarity1
Disulfide bondi110 ↔ 187PROSITE-ProRule annotation
Modified residuei296N6-(retinylidene)lysineBy similarity1
Lipidationi322S-palmitoyl cysteineBy similarity1
Lipidationi323S-palmitoyl cysteineBy similarity1
Modified residuei334PhosphoserineBy similarity1
Modified residuei336PhosphothreonineBy similarity1
Modified residuei338PhosphoserineBy similarity1
Modified residuei340PhosphothreonineBy similarity1
Modified residuei342PhosphothreonineBy similarity1
Modified residuei343PhosphoserineBy similarity1

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

EPDiP08100.
PaxDbiP08100.
PeptideAtlasiP08100.
PRIDEiP08100.

PTM databases

iPTMnetiP08100.
PhosphoSitePlusiP08100.
UniCarbKBiP08100.

Expressioni

Tissue specificityi

Rod shaped photoreceptor cells which mediates vision in dim light.

Gene expression databases

BgeeiENSG00000163914.
CleanExiHS_RHO.
GenevisibleiP08100. HS.

Organism-specific databases

HPAiCAB022486.
HPA013440.

Interactioni

Subunit structurei

Homodimer.By similarity

Binary interactionsi

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

Protein-protein interaction databases

BioGridi111942. 11 interactors.
IntActiP08100. 3 interactors.
STRINGi9606.ENSP00000296271.

Structurei

Secondary structure

1348
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi2 – 5Combined sources4
Beta strandi10 – 13Combined sources4
Beta strandi16 – 18Combined sources3
Turni23 – 25Combined sources3
Turni29 – 31Combined sources3
Helixi34 – 64Combined sources31
Beta strandi66 – 68Combined sources3
Helixi71 – 88Combined sources18
Helixi91 – 100Combined sources10
Helixi106 – 140Combined sources35
Helixi144 – 147Combined sources4
Helixi150 – 168Combined sources19
Turni170 – 173Combined sources4
Beta strandi174 – 176Combined sources3
Beta strandi178 – 180Combined sources3
Turni182 – 184Combined sources3
Beta strandi185 – 189Combined sources5
Turni196 – 199Combined sources4
Helixi200 – 236Combined sources37
Helixi241 – 277Combined sources37
Helixi285 – 306Combined sources22
Helixi311 – 321Combined sources11
Turni322 – 324Combined sources3

3D structure databases

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

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni113 – 125Retinal chromophore bindingBy similarityAdd BLAST13
Regioni207 – 212Retinal chromophore bindingBy similarity6

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi134 – 137'Ionic lock' involved in activated form stabilization4

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.
InterProiView protein in InterPro
IPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
IPR001760. Opsin.
IPR027430. Retinal_BS.
IPR000732. Rhodopsin.
IPR019477. Rhodopsin_N.
PfamiView protein in Pfam
PF00001. 7tm_1. 1 hit.
PF10413. Rhodopsin_N. 1 hit.
PRINTSiPR00237. GPCRRHODOPSN.
PR00238. OPSIN.
PR00579. RHODOPSIN.
SMARTiView protein in SMART
SM01381. 7TM_GPCR_Srsx. 1 hit.
PROSITEiView 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

« 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)DescriptionActionsGraphical viewLength
Natural variantiVAR_0047654T → K in RP4. 1
Natural variantiVAR_00476615N → S in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893786Ensembl.1
Natural variantiVAR_00476717T → M in RP4. 2 PublicationsCorresponds to variant dbSNP:rs104893769Ensembl.1
Natural variantiVAR_00476823P → H in RP4; most common variant; leads to interaction with EDEM1 followed by degradation by the ERAD system. 4 PublicationsCorresponds to variant dbSNP:rs104893768Ensembl.1
Natural variantiVAR_00476923P → L in RP4. 1
Natural variantiVAR_00477028Q → H in RP4. 1
Natural variantiVAR_00477140L → R in RP4. 1 Publication1
Natural variantiVAR_00477244M → T in RP4. 1 PublicationCorresponds to variant dbSNP:rs774336493Ensembl.1
Natural variantiVAR_00477345F → L in RP4. Corresponds to variant dbSNP:rs104893770Ensembl.1
Natural variantiVAR_00477446L → R in RP4. 1
Natural variantiVAR_00477551G → A1 PublicationCorresponds to variant dbSNP:rs149079952Ensembl.1
Natural variantiVAR_00477651G → R in RP4. Corresponds to variant dbSNP:rs104893792Ensembl.1
Natural variantiVAR_00477751G → V in RP4. 1
Natural variantiVAR_00477853P → R in RP4. Corresponds to variant dbSNP:rs28933395Ensembl.1
Natural variantiVAR_00477958T → R in RP4. 2 PublicationsCorresponds to variant dbSNP:rs28933394Ensembl.1
Natural variantiVAR_00478068 – 71Missing in RP4. 4
Natural variantiVAR_00478187V → D in RP4. Corresponds to variant dbSNP:rs104893771Ensembl.1
Natural variantiVAR_00478289G → D in RP4. Corresponds to variant dbSNP:rs104893772Ensembl.1
Natural variantiVAR_00478390G → D in CSNBAD1. 1 PublicationCorresponds to variant dbSNP:rs104893790Ensembl.1
Natural variantiVAR_00478494T → I in CSNBAD1. 1 PublicationCorresponds to variant dbSNP:rs104893796Ensembl.1
Natural variantiVAR_004785104V → I1 PublicationCorresponds to variant dbSNP:rs144317206Ensembl.1
Natural variantiVAR_004786106G → R in RP4. 1 PublicationCorresponds to variant dbSNP:rs28933994Ensembl.1
Natural variantiVAR_004787106G → W in RP4. Corresponds to variant dbSNP:rs104893773Ensembl.1
Natural variantiVAR_004788109G → R in RP4. 1 Publication1
Natural variantiVAR_004789110C → F in RP4. 1 Publication1
Natural variantiVAR_004790110C → Y in RP4. Corresponds to variant dbSNP:rs104893787Ensembl.1
Natural variantiVAR_004791114G → D in RP4. Corresponds to variant dbSNP:rs104893788Ensembl.1
Natural variantiVAR_004792125L → R in RP4. 1
Natural variantiVAR_004793127S → F in RP4. 1 Publication1
Natural variantiVAR_004794131L → P in RP4. 2 Publications1
Natural variantiVAR_004795135R → G in RP4. 1 Publication1
Natural variantiVAR_004796135R → L in RP4. Corresponds to variant dbSNP:rs104893774Ensembl.1
Natural variantiVAR_004797135R → W in RP4. 2 PublicationsCorresponds to variant dbSNP:rs104893775Ensembl.1
Natural variantiVAR_004798140C → S in RP4. 1 Publication1
Natural variantiVAR_004799150E → K in RP4; autosomal recessive. 2 PublicationsCorresponds to variant dbSNP:rs104893791Ensembl.1
Natural variantiVAR_004800164A → E in RP4. Corresponds to variant dbSNP:rs104893793Ensembl.1
Natural variantiVAR_004801164A → V in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893793Ensembl.1
Natural variantiVAR_004802167C → R in RP4. 1
Natural variantiVAR_004803171P → L in RP4. 1
Natural variantiVAR_004804171P → Q in RP4. 1 Publication1
Natural variantiVAR_004805171P → S in RP4. Corresponds to variant dbSNP:rs104893794Ensembl.1
Natural variantiVAR_004806178Y → C in RP4. Corresponds to variant dbSNP:rs104893776Ensembl.1
Natural variantiVAR_004807178Y → N in RP4. 1 Publication1
Natural variantiVAR_068359180P → S in RP4. 1 Publication1
Natural variantiVAR_004808181E → K in RP4. 1
Natural variantiVAR_004809182G → S in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893780Ensembl.1
Natural variantiVAR_004810186S → P in RP4. 1
Natural variantiVAR_004811188G → E in RP4. 1 Publication1
Natural variantiVAR_004812188G → R in RP4. Corresponds to variant dbSNP:rs527236100Ensembl.1
Natural variantiVAR_004814190D → G in RP4. Corresponds to variant dbSNP:rs104893777Ensembl.1
Natural variantiVAR_004813190D → N in RP4. Corresponds to variant dbSNP:rs28933992Ensembl.1
Natural variantiVAR_004815190D → Y in RP4. Corresponds to variant dbSNP:rs104893779Ensembl.1
Natural variantiVAR_004816207M → R in RP4. 1 PublicationCorresponds to variant dbSNP:rs28933995Ensembl.1
Natural variantiVAR_004817209V → M Found in a patient with retinitis pigmentosa; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs567288669Ensembl.1
Natural variantiVAR_004818211H → P in RP4. Corresponds to variant dbSNP:rs28933993Ensembl.1
Natural variantiVAR_004819211H → R in RP4. 1 Publication1
Natural variantiVAR_068360214I → N in RP4. 1 Publication1
Natural variantiVAR_004820216M → K in RP4. 1 Publication1
Natural variantiVAR_004821220F → C in RP4. Corresponds to variant dbSNP:rs766161322Ensembl.1
Natural variantiVAR_004822222C → R in RP4. 1
Natural variantiVAR_004823255Missing in RP4. 1 Publication1
Natural variantiVAR_004824264Missing in RP4. 1
Natural variantiVAR_004825267P → L in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893781Ensembl.1
Natural variantiVAR_004826267P → R in RP4. 1 Publication1
Natural variantiVAR_004827292A → E in CSNBAD1. 1 PublicationCorresponds to variant dbSNP:rs104893789Ensembl.1
Natural variantiVAR_004828296K → E in RP4. Corresponds to variant dbSNP:rs29001653Ensembl.1
Natural variantiVAR_004829297S → R in RP4. 1 Publication1
Natural variantiVAR_004830342T → M in RP4. Corresponds to variant dbSNP:rs183318466Ensembl.1
Natural variantiVAR_004831345V → L in RP4. 1 PublicationCorresponds to variant dbSNP:rs104893795Ensembl.1
Natural variantiVAR_004832345V → M in RP4. Corresponds to variant dbSNP:rs104893795Ensembl.1
Natural variantiVAR_004833347P → A in RP4. 1 Publication1
Natural variantiVAR_004834347P → L in RP4; common variant. 2 PublicationsCorresponds to variant dbSNP:rs29001566Ensembl.1
Natural variantiVAR_004835347P → Q in RP4. Corresponds to variant dbSNP:rs29001566Ensembl.1
Natural variantiVAR_004836347P → R in RP4. 1 PublicationCorresponds to variant dbSNP:rs29001566Ensembl.1
Natural variantiVAR_004837347P → S in RP4. 1 PublicationCorresponds to variant dbSNP:rs29001637Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U49742 Genomic DNA. Translation: AAC31763.1.
AB065668 Genomic DNA. Translation: BAC05894.1.
BX537381 mRNA. Translation: CAD97623.1.
BC112104 mRNA. Translation: AAI12105.1.
BC112106 mRNA. Translation: AAI12107.1.
U16824 Genomic DNA. Translation: AAA97436.1.
S81166 Genomic DNA. Translation: AAB35906.1.
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

Similar proteinsi

Entry informationi

Entry nameiOPSD_HUMAN
AccessioniPrimary (citable) accession number: P08100
Secondary accession number(s): Q16414, Q2M249
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1988
Last sequence update: August 1, 1988
Last modified: September 27, 2017
This is version 196 of the entry and version 1 of the sequence. See 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