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P08100

- OPSD_HUMAN

UniProt

P08100 - OPSD_HUMAN

Protein

Rhodopsin

Gene

RHO

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 168 (01 Oct 2014)
      Sequence version 1 (01 Aug 1988)
      Previous versions | rss
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    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

    1. G-protein coupled receptor activity Source: ProtInc
    2. metal ion binding Source: UniProtKB-KW
    3. photoreceptor activity Source: UniProtKB-KW
    4. protein binding Source: UniProtKB
    5. retinal binding Source: Ensembl

    GO - Biological processi

    1. G-protein coupled receptor signaling pathway Source: ProtInc
    2. phototransduction, visible light Source: Reactome
    3. protein-chromophore linkage Source: UniProtKB-KW
    4. protein phosphorylation Source: Ensembl
    5. red, far-red light phototransduction Source: Ensembl
    6. regulation of rhodopsin mediated signaling pathway Source: Reactome
    7. retina development in camera-type eye Source: Ensembl
    8. retinoid metabolic process Source: Reactome
    9. rhodopsin mediated signaling pathway Source: Reactome
    10. visual perception Source: UniProtKB-KW

    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

    ReactomeiREACT_160156. The canonical retinoid cycle in rods (twilight vision).
    REACT_163919. Inactivation, recovery and regulation of the phototransduction cascade.
    REACT_163932. Activation of the phototransduction cascade.
    REACT_18426. Opsins.
    REACT_19231. G alpha (i) signalling events.
    SignaLinkiP08100.

    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
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:10012. RHO.

    Subcellular locationi

    Membrane 1 Publication; Multi-pass membrane protein 1 Publication
    Note: Synthesized in the inner segment (IS) of rod photoreceptor cells before vectorial transport to the rod outer segment (OS) photosensory cilia.

    GO - Cellular componenti

    1. Golgi apparatus Source: MGI
    2. integral component of plasma membrane Source: ProtInc
    3. photoreceptor disc membrane Source: Reactome
    4. photoreceptor inner segment Source: MGI
    5. photoreceptor inner segment membrane Source: UniProtKB
    6. photoreceptor outer segment Source: MGI
    7. photoreceptor outer segment membrane Source: UniProtKB
    8. plasma membrane Source: LIFEdb
    9. rough endoplasmic reticulum membrane Source: Ensembl

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Retinitis pigmentosa 4 (RP4) [MIM:613731]: A 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.24 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti4 – 41T → K in RP4.
    VAR_004765
    Natural varianti15 – 151N → S in RP4. 1 Publication
    VAR_004766
    Natural varianti17 – 171T → M in RP4. 2 Publications
    VAR_004767
    Natural varianti23 – 231P → H in RP4; most common variant, leads to interaction with EDEM1 followed by degradation by the ERAD system. 3 Publications
    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
    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.
    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.
    VAR_004781
    Natural varianti89 – 891G → D in RP4.
    VAR_004782
    Natural varianti106 – 1061G → R in RP4. 1 Publication
    Corresponds to variant rs28933994 [ dbSNP | Ensembl ].
    VAR_004786
    Natural varianti106 – 1061G → W in RP4.
    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.
    VAR_004790
    Natural varianti114 – 1141G → D in RP4.
    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.
    VAR_004796
    Natural varianti135 – 1351R → W in RP4. 2 Publications
    VAR_004797
    Natural varianti140 – 1401C → S in RP4. 1 Publication
    VAR_004798
    Natural varianti150 – 1501E → K in RP4; autosomal recessive. 2 Publications
    VAR_004799
    Natural varianti164 – 1641A → E in RP4.
    VAR_004800
    Natural varianti164 – 1641A → V in RP4. 1 Publication
    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.
    VAR_004805
    Natural varianti178 – 1781Y → C in RP4.
    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
    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.
    VAR_004812
    Natural varianti190 – 1901D → G in RP4.
    VAR_004814
    Natural varianti190 – 1901D → N in RP4.
    Corresponds to variant rs28933992 [ dbSNP | Ensembl ].
    VAR_004813
    Natural varianti190 – 1901D → Y in RP4.
    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.
    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
    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.
    VAR_004830
    Natural varianti345 – 3451V → L in RP4. 1 Publication
    VAR_004831
    Natural varianti345 – 3451V → M in RP4.
    VAR_004832
    Natural varianti347 – 3471P → A in RP4. 1 Publication
    VAR_004833
    Natural varianti347 – 3471P → L in RP4; common variant. 2 Publications
    VAR_004834
    Natural varianti347 – 3471P → Q in RP4.
    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) [MIM:610445]: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti90 – 901G → D in CSNBAD1. 1 Publication
    VAR_004783
    Natural varianti94 – 941T → I in CSNBAD1. 1 Publication
    VAR_004784
    Natural varianti292 – 2921A → E in CSNBAD1. 1 Publication
    VAR_004827

    Keywords - Diseasei

    Congenital stationary night blindness, Disease mutation, Retinitis pigmentosa

    Organism-specific databases

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

    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.
    PRIDEiP08100.

    PTM databases

    PhosphoSiteiP08100.
    UniCarbKBiP08100.

    Expressioni

    Tissue specificityi

    Rod shaped photoreceptor cells which mediates vision in dim light.

    Gene expression databases

    BgeeiP08100.
    CleanExiHS_RHO.
    GenevestigatoriP08100.

    Interactioni

    Subunit structurei

    Homodimer.By similarity

    Binary interactionsi

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

    Protein-protein interaction databases

    BioGridi111942. 13 interactions.
    IntActiP08100. 3 interactions.
    STRINGi9606.ENSP00000296271.

    Structurei

    3D structure databases

    ProteinModelPortaliP08100.
    SMRiP08100. Positions 1-348.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 3636ExtracellularAdd
    BLAST
    Topological domaini62 – 7312CytoplasmicAdd
    BLAST
    Topological domaini99 – 11315ExtracellularAdd
    BLAST
    Topological domaini134 – 15219CytoplasmicAdd
    BLAST
    Topological domaini177 – 20226ExtracellularAdd
    BLAST
    Topological domaini231 – 25222CytoplasmicAdd
    BLAST
    Topological domaini277 – 2848Extracellular
    Topological domaini310 – 34839CytoplasmicAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei37 – 6125Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei74 – 9825Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei114 – 13320Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei153 – 17624Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei203 – 23028Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei253 – 27624Helical; Name=6Sequence AnalysisAdd
    BLAST
    Transmembranei285 – 30925Helical; Name=7Sequence AnalysisAdd
    BLAST

    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

    eggNOGiNOG311294.
    HOGENOMiHOG000253932.
    HOVERGENiHBG107442.
    InParanoidiP08100.
    KOiK04250.
    OMAiLAAYMFM.
    OrthoDBiEOG72NRQJ.
    PhylomeDBiP08100.
    TreeFamiTF324998.

    Family and domain databases

    Gene3Di1.20.1070.10. 1 hit.
    4.10.840.10. 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.
    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

    MNGTEGPNFY VPFSNATGVV RSPFEYPQYY LAEPWQFSML AAYMFLLIVL    50
    GFPINFLTLY VTVQHKKLRT PLNYILLNLA VADLFMVLGG FTSTLYTSLH 100
    GYFVFGPTGC NLEGFFATLG GEIALWSLVV LAIERYVVVC KPMSNFRFGE 150
    NHAIMGVAFT WVMALACAAP PLAGWSRYIP EGLQCSCGID YYTLKPEVNN 200
    ESFVIYMFVV HFTIPMIIIF FCYGQLVFTV KEAAAQQQES ATTQKAEKEV 250
    TRMVIIMVIA FLICWVPYAS VAFYIFTHQG SNFGPIFMTI PAFFAKSAAI 300
    YNPVIYIMMN KQFRNCMLTT ICCGKNPLGD DEASATVSKT ETSQVAPA 348
    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
    VAR_004766
    Natural varianti17 – 171T → M in RP4. 2 Publications
    VAR_004767
    Natural varianti23 – 231P → H in RP4; most common variant, leads to interaction with EDEM1 followed by degradation by the ERAD system. 3 Publications
    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
    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.
    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.
    VAR_004781
    Natural varianti89 – 891G → D in RP4.
    VAR_004782
    Natural varianti90 – 901G → D in CSNBAD1. 1 Publication
    VAR_004783
    Natural varianti94 – 941T → I in CSNBAD1. 1 Publication
    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.
    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.
    VAR_004790
    Natural varianti114 – 1141G → D in RP4.
    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.
    VAR_004796
    Natural varianti135 – 1351R → W in RP4. 2 Publications
    VAR_004797
    Natural varianti140 – 1401C → S in RP4. 1 Publication
    VAR_004798
    Natural varianti150 – 1501E → K in RP4; autosomal recessive. 2 Publications
    VAR_004799
    Natural varianti164 – 1641A → E in RP4.
    VAR_004800
    Natural varianti164 – 1641A → V in RP4. 1 Publication
    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.
    VAR_004805
    Natural varianti178 – 1781Y → C in RP4.
    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
    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.
    VAR_004812
    Natural varianti190 – 1901D → G in RP4.
    VAR_004814
    Natural varianti190 – 1901D → N in RP4.
    Corresponds to variant rs28933992 [ dbSNP | Ensembl ].
    VAR_004813
    Natural varianti190 – 1901D → Y in RP4.
    VAR_004815
    Natural varianti207 – 2071M → R in RP4. 1 Publication
    Corresponds to variant rs28933995 [ dbSNP | Ensembl ].
    VAR_004816
    Natural varianti209 – 2091V → M Effect not known. 1 Publication
    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.
    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
    VAR_004825
    Natural varianti267 – 2671P → R in RP4. 1 Publication
    VAR_004826
    Natural varianti292 – 2921A → E in CSNBAD1. 1 Publication
    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.
    VAR_004830
    Natural varianti345 – 3451V → L in RP4. 1 Publication
    VAR_004831
    Natural varianti345 – 3451V → M in RP4.
    VAR_004832
    Natural varianti347 – 3471P → A in RP4. 1 Publication
    VAR_004833
    Natural varianti347 – 3471P → L in RP4; common variant. 2 Publications
    VAR_004834
    Natural varianti347 – 3471P → Q in RP4.
    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:
    EMBL
    GenBank
    DDBJ
    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.3. human.

    Polymorphism databases

    DMDMi129207.

    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:
    EMBL
    GenBank
    DDBJ
    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

    ProteinModelPortali P08100.
    SMRi P08100. Positions 1-348.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111942. 13 interactions.
    IntActi P08100. 3 interactions.
    STRINGi 9606.ENSP00000296271.

    Chemistry

    DrugBanki DB01159. Halothane.

    Protein family/group databases

    TCDBi 9.A.14.1.2. the g-protein-coupled receptor (gpcr) family.
    GPCRDBi Search...

    PTM databases

    PhosphoSitei P08100.
    UniCarbKBi P08100.

    Polymorphism databases

    DMDMi 129207.

    Proteomic databases

    PaxDbi P08100.
    PRIDEi P08100.

    Protocols and materials databases

    DNASUi 6010.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000296271 ; ENSP00000296271 ; ENSG00000163914 .
    GeneIDi 6010.
    KEGGi hsa:6010.
    UCSCi uc003emt.3. human.

    Organism-specific databases

    CTDi 6010.
    GeneCardsi GC03P129247.
    GeneReviewsi RHO.
    HGNCi HGNC:10012. RHO.
    MIMi 180380. gene.
    610445. phenotype.
    613731. phenotype.
    neXtProti NX_P08100.
    Orphaneti 215. Congenital stationary night blindness.
    791. Retinitis pigmentosa.
    52427. Retinitis punctata albescens.
    PharmGKBi PA34390.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG311294.
    HOGENOMi HOG000253932.
    HOVERGENi HBG107442.
    InParanoidi P08100.
    KOi K04250.
    OMAi LAAYMFM.
    OrthoDBi EOG72NRQJ.
    PhylomeDBi P08100.
    TreeFami TF324998.

    Enzyme and pathway databases

    Reactomei REACT_160156. The canonical retinoid cycle in rods (twilight vision).
    REACT_163919. Inactivation, recovery and regulation of the phototransduction cascade.
    REACT_163932. Activation of the phototransduction cascade.
    REACT_18426. Opsins.
    REACT_19231. G alpha (i) signalling events.
    SignaLinki P08100.

    Miscellaneous databases

    GeneWikii Rhodopsin.
    GenomeRNAii 6010.
    NextBioi 23449.
    PROi P08100.
    SOURCEi Search...

    Gene expression databases

    Bgeei P08100.
    CleanExi HS_RHO.
    Genevestigatori P08100.

    Family and domain databases

    Gene3Di 1.20.1070.10. 1 hit.
    4.10.840.10. 1 hit.
    InterProi IPR000276. GPCR_Rhodpsn.
    IPR017452. GPCR_Rhodpsn_7TM.
    IPR001760. Opsin.
    IPR027430. Retinal_BS.
    IPR000732. Rhodopsin.
    IPR019477. Rhodopsin_N.
    [Graphical view ]
    Pfami PF00001. 7tm_1. 1 hit.
    PF10413. Rhodopsin_N. 1 hit.
    [Graphical view ]
    PRINTSi PR00237. GPCRRHODOPSN.
    PR00238. OPSIN.
    PR00579. RHODOPSIN.
    PROSITEi PS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
    PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
    PS00238. OPSIN. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Isolation and nucleotide sequence of the gene encoding human rhodopsin."
      Nathans J., Hogness D.S.
      Proc. Natl. Acad. Sci. U.S.A. 81:4851-4855(1984) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. "Genome-wide discovery and analysis of human seven transmembrane helix receptor genes."
      Suwa M., Sato T., Okouchi I., Arita M., Futami K., Matsumoto S., Tsutsumi S., Aburatani H., Asai K., Akiyama Y.
      Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Retina.
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    5. "Sequence analysis of the 5.34-kb 5' flanking region of the human rhodopsin-encoding gene."
      Bennett J., Beller B., Sun D., Kariko K.
      Gene 167:317-320(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-120.
    6. "Rhodopsin mutations in autosomal dominant retinitis pigmentosa."
      Al-Maghtheh M., Gregory C., Inglehearn C., Hardcastle A., Bhattacharya S.
      Hum. Mutat. 2:249-255(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON RP4 VARIANTS.
    7. "Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline-->histidine substitution (codon 23) in pedigrees from Europe."
      Farrar G.J., Kenna P., Redmond R., McWilliam P., Bradley D.G., Humphries M.M., Sharp E.M., Inglehearn C.F., Bashir R., Jay M., Watty A., Ludwig M., Schinzel A., Samanns C., Gal A., Bhattacharya S.S., Humphries P.
      Am. J. Hum. Genet. 47:941-945(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS RP4.
    8. "A point mutation of the rhodopsin gene in one form of retinitis pigmentosa."
      Dryja T.P., McGee T.L., Reichei E., Hahn L.B., Cowley G.S., Yandell D.W., Sandberg M.A., Berson E.L.
      Nature 343:364-366(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RP4 HIS-23.
    9. "Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa."
      Dryja T.P., McGee T.L., Hahn L.B., Cowley G.S., Olsson J.E., Reichel E., Sandberg M.A., Berson E.L.
      N. Engl. J. Med. 323:1302-1307(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS RP4 HIS-23; ARG-58; LEU-347 AND SER-347.
    10. "A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa."
      Inglehearn C.F., Bashir R., Lester D.H., Jay M., Bird A.C., Bhattacharya S.S.
      Am. J. Hum. Genet. 48:26-30(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RP4 ILE-255 DEL.
    11. "Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis."
      Sheffield V.C., Fishman G.A., Beck J.S., Kimura A.E., Stone E.M.
      Am. J. Hum. Genet. 49:699-706(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS RP4 MET-17; HIS-23; ARG-58; SER-182 AND LEU-267.
    12. "Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa."
      Gal A., Artlich A., Ludwig M., Niemeyer G., Olek K., Schwinger E., Schinzel A.
      Genomics 11:468-470(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RP4 ARG-347.
    13. Cited for: VARIANTS RP4.
    14. "Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa."
      Dryja T.P., Hahn L.B., Cowley G.S., McGee T.L., Berson E.L.
      Proc. Natl. Acad. Sci. U.S.A. 88:9370-9374(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS RP4.
    15. "Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family."
      Farrar G.J., Findlay J.B.C., Kumar-Singh R., Kenna P., Humphries M.M., Sharpe E., Humphries P.
      Hum. Mol. Genet. 1:769-771(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RP4 ARG-207.
    16. "Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP)."
      Fujiki K., Hotta Y., Hayakawa M., Sakuma H., Shiono T., Noro M., Sakuma T., Tamai M., Hikiji K., Kawaguchi R., Hoshi A., Nakajima A., Kanai A.
      Jpn. J. Hum. Genet. 37:125-132(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS RP4 MET-17 AND LEU-347.
    17. "Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin."
      Macke J.P., Davenport C.M., Jacobson S.G., Hennessey J.C., Gonzalez-Fernandez F., Conway B.P., Heckenlively J., Palmer R., Maumenee I.H., Sieving P., Gouras P., Good W., Nathans J.
      Am. J. Hum. Genet. 53:80-89(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS RP4 ARG-106; GLY-135; SER-140; GLU-188 AND ARG-211, VARIANTS ALA-51; ILE-104 AND MET-209.
    18. "Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin."
      Kranich H., Bartkowski S., Denton M.J., Krey S., Dickinson P., Duvigneau C., Gal A.
      Hum. Mol. Genet. 2:813-814(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RP4 SER-15.
    19. "Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness."
      Dryja T.P., Berson E.L., Rao V.R., Oprian D.D.
      Nat. Genet. 4:280-283(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CSNBAD1 GLU-292.
    20. "Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa."
      Vaithinathan R., Berson E.L., Dryja T.P.
      Genomics 21:461-463(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS RP4.
    21. "Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa."
      Reig C., Antich J., Gean E., Garcia-Sandoval B., Ramos C., Ayuso C., Carballo M.
      Hum. Genet. 94:283-286(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RP4 THR-44.
    22. "Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa."
      Fuchs S., Kranich H., Denton M.J., Zrenner E., Bhattacharya S.S., Humphries P., Gal A.
      Hum. Mol. Genet. 3:1203-1203(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS RP4 PHE-110; PRO-131 AND VAL-164.
    23. "Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa."
      Antinolo G., Sanchez B., Borrego S., Rueda T., Chaparro P., Cabeza J.C.
      Hum. Mol. Genet. 3:1421-1421(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RP4 GLN-171.
    24. "Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa."
      Souied E., Gerber S., Rozet J.-M., Bonneau D., Dufier J.-L., Ghazi I., Philip N., Soubrane G., Coscas G., Munnich A.
      Hum. Mol. Genet. 3:1433-1434(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS RP4 PHE-127; PRO-131; ASN-178; ARG-267 AND ARG-297.
    25. "Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa."
      Al-Maghtheh M., Inglehearn C., Lunt P., Jay M., Bird A., Bhattacharya S.
      Hum. Mutat. 3:409-410(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS RP4 ARG-40 AND LYS-216.
    26. "Autosomal dominant retinitis pigmentosa in a large family: a clinical and molecular genetic study."
      Rosas D.J., Roman A.J., Weissbrod P., Macke J.P., Nathans J.
      Invest. Ophthalmol. Vis. Sci. 35:3134-3144(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RP4 LEU-345.
    27. Cited for: VARIANT ARRP LYS-150.
    28. "Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347."
      Macke J.P., Hennessey J.C., Nathans J.
      Hum. Mol. Genet. 4:775-776(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RP4 ALA-347.
    29. "Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation."
      Sieving P.A., Richards J.E., Naarendorp F., Bingham E.L., Scott K., Alpern M.
      Proc. Natl. Acad. Sci. U.S.A. 92:880-884(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CSNBAD1 ASP-90.
    30. "Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene."
      Souied E., Soubrane G., Benlian P., Coscas G.J., Gerber S., Munnich A., Kaplan J.
      Am. J. Ophthalmol. 121:19-25(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RP4 TRP-135.
    31. "Rhodopsin mutation G109R in a family with autosomal dominant retinitis pigmentosa."
      Goliath R., Bardien S., September A., Martin R., Ramesar R., Greenberg J.
      Hum. Mutat. Suppl. 1:S40-S41(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RP4 ARG-109.
    32. "A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness."
      Al-Jandal N., Farrar G.J., Kiang A.-S., Humphries M.M., Bannon N., Findlay J.B.C., Humphries P., Kenna P.F.
      Hum. Mutat. 13:75-81(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CSNBAD1 ILE-94.
    33. Cited for: CHARACTERIZATION OF VARIANT RP4 HIS-23, SUBCELLULAR LOCATION.
    34. "A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa."
      Azam M., Khan M.I., Gal A., Hussain A., Shah S.T., Khan M.S., Sadeque A., Bokhari H., Collin R.W., Orth U., van Genderen M.M., den Hollander A.I., Cremers F.P., Qamar R.
      Mol. Vis. 15:2526-2534(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RP4 LYS-150.
    35. Cited for: VARIANTS RP4 TRP-135; SER-180 AND ASN-214.

    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: October 1, 2014
    This is version 168 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

    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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3