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P47804

- RGR_HUMAN

UniProt

P47804 - RGR_HUMAN

Protein

RPE-retinal G protein-coupled receptor

Gene

RGR

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 1 (01 Feb 1996)
      Previous versions | rss
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    Functioni

    Receptor for all-trans- and 11-cis-retinal. Binds preferentially to the former and may catalyze the isomerization of the chromophore by a retinochrome-like mechanism.

    GO - Molecular functioni

    1. chemokine receptor activity Source: InterPro
    2. G-protein coupled receptor activity Source: ProtInc
    3. photoreceptor activity Source: UniProtKB-KW
    4. protein binding Source: IntAct

    GO - Biological processi

    1. chemotaxis Source: InterPro
    2. G-protein coupled receptor signaling pathway Source: ProtInc
    3. phototransduction Source: UniProtKB-KW
    4. protein-chromophore linkage Source: UniProtKB-KW
    5. visual perception Source: ProtInc

    Keywords - Molecular functioni

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

    Keywords - Biological processi

    Sensory transduction, Vision

    Keywords - Ligandi

    Chromophore

    Enzyme and pathway databases

    ReactomeiREACT_18426. Opsins.
    REACT_19231. G alpha (i) signalling events.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    RPE-retinal G protein-coupled receptor
    Gene namesi
    Name:RGR
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:9990. RGR.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of plasma membrane Source: ProtInc

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Retinitis pigmentosa 44 (RP44) [MIM:613769]: 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti66 – 661S → R in RP44. 1 Publication
    VAR_017034

    Keywords - Diseasei

    Disease mutation, Retinitis pigmentosa

    Organism-specific databases

    MIMi613769. phenotype.
    Orphaneti791. Retinitis pigmentosa.
    PharmGKBiPA34360.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 291291RPE-retinal G protein-coupled receptorPRO_0000197822Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi88 ↔ 162PROSITE-ProRule annotation
    Glycosylationi172 – 1721N-linked (GlcNAc...)Sequence Analysis
    Modified residuei255 – 2551N6-(retinylidene)lysineBy similarity

    Post-translational modificationi

    Covalently binds all-trans- and 11-cis-retinal.

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiP47804.
    PRIDEiP47804.

    Expressioni

    Tissue specificityi

    Preferentially expressed at high levels in the retinal pigment epithelium (RPE) and Mueller cells of the neural retina.

    Gene expression databases

    ArrayExpressiP47804.
    BgeeiP47804.
    CleanExiHS_RGR.
    GenevestigatoriP47804.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    KIAA1279Q96EK52EBI-745818,EBI-744150

    Protein-protein interaction databases

    BioGridi111927. 1 interaction.
    IntActiP47804. 1 interaction.
    MINTiMINT-1452896.
    STRINGi9606.ENSP00000352427.

    Structurei

    3D structure databases

    ProteinModelPortaliP47804.
    SMRiP47804. Positions 13-270.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 1515ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini37 – 5216CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini74 – 9118ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini113 – 13018CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini152 – 17524ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini197 – 21923CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini241 – 2477ExtracellularSequence Analysis
    Topological domaini269 – 29123CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei16 – 3621Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei53 – 7321Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei92 – 11221Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei131 – 15121Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei176 – 19621Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei220 – 24021Helical; Name=6Sequence AnalysisAdd
    BLAST
    Transmembranei248 – 26821Helical; Name=7Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

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

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG236124.
    HOGENOMiHOG000293329.
    HOVERGENiHBG017721.
    KOiK04254.
    OMAiGICINAF.
    OrthoDBiEOG75MVWJ.
    PhylomeDBiP47804.
    TreeFamiTF324998.

    Family and domain databases

    Gene3Di1.20.1070.10. 1 hit.
    InterProiIPR000355. Chemokine_rcpt.
    IPR000276. GPCR_Rhodpsn.
    IPR017452. GPCR_Rhodpsn_7TM.
    IPR027430. Retinal_BS.
    IPR001793. RPE_GPCR.
    [Graphical view]
    PANTHERiPTHR24227. PTHR24227. 1 hit.
    PfamiPF00001. 7tm_1. 1 hit.
    [Graphical view]
    PRINTSiPR00237. GPCRRHODOPSN.
    PR00667. RPERETINALR.
    PROSITEiPS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
    PS00238. OPSIN. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P47804-1) [UniParc]FASTAAdd to Basket

    Also known as: Short

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAETSALPTG FGELEVLAVG MVLLVEALSG LSLNTLTIFS FCKTPELRTP    50
    CHLLVLSLAL ADSGISLNAL VAATSSLLRR WPYGSDGCQA HGFQGFVTAL 100
    ASICSSAAIA WGRYHHYCTR SQLAWNSAVS LVLFVWLSSA FWAALPLLGW 150
    GHYDYEPLGT CCTLDYSKGD RNFTSFLFTM SFFNFAMPLF ITITSYSLME 200
    QKLGKSGHLQ VNTTLPARTL LLGWGPYAIL YLYAVIADVT SISPKLQMVP 250
    ALIAKMVPTI NAINYALGNE MVCRGIWQCL SPQKREKDRT K 291
    Length:291
    Mass (Da):31,874
    Last modified:February 1, 1996 - v1
    Checksum:i85AB087E09719E88
    GO
    Isoform 2 (identifier: P47804-2) [UniParc]FASTAAdd to Basket

    Also known as: Long

    The sequence of this isoform differs from the canonical sequence as follows:
         78-78: L → LRVSH

    Show »
    Length:295
    Mass (Da):32,354
    Checksum:i4224150E95726B6D
    GO
    Isoform 3 (identifier: P47804-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         211-248: Missing.

    Show »
    Length:253
    Mass (Da):27,728
    Checksum:i4D610689536B5767
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti66 – 661S → R in RP44. 1 Publication
    VAR_017034
    Natural varianti132 – 1321V → L.1 Publication
    VAR_017055
    Natural varianti152 – 1521H → N.1 Publication
    Corresponds to variant rs150808273 [ dbSNP | Ensembl ].
    VAR_017056
    Natural varianti234 – 2341A → T.1 Publication
    VAR_017058
    Natural varianti241 – 2411S → F.1 Publication
    VAR_017057

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei78 – 781L → LRVSH in isoform 2. 2 PublicationsVSP_003773
    Alternative sequencei211 – 24838Missing in isoform 3. 1 PublicationVSP_038387Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U15790
    , U14911, U15785, U15786, U15787, U15788, U15789 Genomic DNA. Translation: AAB92384.1.
    U14910 mRNA. Translation: AAA56748.1.
    AC022389 Genomic DNA. No translation available.
    BG912392 mRNA. No translation available.
    BC011349 mRNA. Translation: AAH11349.1.
    CCDSiCCDS41543.1. [P47804-3]
    CCDS7374.1. [P47804-2]
    PIRiA55980.
    B55980.
    RefSeqiNP_001012738.1. NM_001012720.1. [P47804-1]
    NP_001012740.1. NM_001012722.1. [P47804-3]
    NP_002912.2. NM_002921.3. [P47804-2]
    UniGeneiHs.1544.

    Genome annotation databases

    EnsembliENST00000358110; ENSP00000350823; ENSG00000148604. [P47804-3]
    ENST00000359452; ENSP00000352427; ENSG00000148604. [P47804-2]
    GeneIDi5995.
    KEGGihsa:5995.
    UCSCiuc001kdc.1. human. [P47804-1]
    uc001kdd.1. human. [P47804-2]
    uc001kde.1. human. [P47804-3]

    Polymorphism databases

    DMDMi1350592.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Mutations of the RGR gene

    Retina International's Scientific Newsletter

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U15790
    , U14911 , U15785 , U15786 , U15787 , U15788 , U15789 Genomic DNA. Translation: AAB92384.1 .
    U14910 mRNA. Translation: AAA56748.1 .
    AC022389 Genomic DNA. No translation available.
    BG912392 mRNA. No translation available.
    BC011349 mRNA. Translation: AAH11349.1 .
    CCDSi CCDS41543.1. [P47804-3 ]
    CCDS7374.1. [P47804-2 ]
    PIRi A55980.
    B55980.
    RefSeqi NP_001012738.1. NM_001012720.1. [P47804-1 ]
    NP_001012740.1. NM_001012722.1. [P47804-3 ]
    NP_002912.2. NM_002921.3. [P47804-2 ]
    UniGenei Hs.1544.

    3D structure databases

    ProteinModelPortali P47804.
    SMRi P47804. Positions 13-270.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111927. 1 interaction.
    IntActi P47804. 1 interaction.
    MINTi MINT-1452896.
    STRINGi 9606.ENSP00000352427.

    Protein family/group databases

    GPCRDBi Search...

    Polymorphism databases

    DMDMi 1350592.

    Proteomic databases

    PaxDbi P47804.
    PRIDEi P47804.

    Protocols and materials databases

    DNASUi 5995.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000358110 ; ENSP00000350823 ; ENSG00000148604 . [P47804-3 ]
    ENST00000359452 ; ENSP00000352427 ; ENSG00000148604 . [P47804-2 ]
    GeneIDi 5995.
    KEGGi hsa:5995.
    UCSCi uc001kdc.1. human. [P47804-1 ]
    uc001kdd.1. human. [P47804-2 ]
    uc001kde.1. human. [P47804-3 ]

    Organism-specific databases

    CTDi 5995.
    GeneCardsi GC10P085994.
    GeneReviewsi RGR.
    HGNCi HGNC:9990. RGR.
    MIMi 600342. gene.
    613769. phenotype.
    neXtProti NX_P47804.
    Orphaneti 791. Retinitis pigmentosa.
    PharmGKBi PA34360.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG236124.
    HOGENOMi HOG000293329.
    HOVERGENi HBG017721.
    KOi K04254.
    OMAi GICINAF.
    OrthoDBi EOG75MVWJ.
    PhylomeDBi P47804.
    TreeFami TF324998.

    Enzyme and pathway databases

    Reactomei REACT_18426. Opsins.
    REACT_19231. G alpha (i) signalling events.

    Miscellaneous databases

    GeneWikii Retinal_G_protein_coupled_receptor.
    GenomeRNAii 5995.
    NextBioi 23359.
    PROi P47804.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P47804.
    Bgeei P47804.
    CleanExi HS_RGR.
    Genevestigatori P47804.

    Family and domain databases

    Gene3Di 1.20.1070.10. 1 hit.
    InterProi IPR000355. Chemokine_rcpt.
    IPR000276. GPCR_Rhodpsn.
    IPR017452. GPCR_Rhodpsn_7TM.
    IPR027430. Retinal_BS.
    IPR001793. RPE_GPCR.
    [Graphical view ]
    PANTHERi PTHR24227. PTHR24227. 1 hit.
    Pfami PF00001. 7tm_1. 1 hit.
    [Graphical view ]
    PRINTSi PR00237. GPCRRHODOPSN.
    PR00667. RPERETINALR.
    PROSITEi PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
    PS00238. OPSIN. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A human opsin-related gene that encodes a retinaldehyde-binding protein."
      Shen D., Jiang M., Hao W., Tao L., Salazar M., Fong H.K.W.
      Biochemistry 33:13117-13125(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2).
      Tissue: Retina.
    2. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-265 (ISOFORM 3).
      Tissue: Brain.
    4. "Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa."
      Morimura H., Saindelle-Ribeaudeau F., Berson E.L., Dryja T.P.
      Nat. Genet. 23:393-394(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RP44 ARG-66, VARIANTS LEU-132; ASN-152; THR-234 AND PHE-241.

    Entry informationi

    Entry nameiRGR_HUMAN
    AccessioniPrimary (citable) accession number: P47804
    Secondary accession number(s): A6NKK7, Q96FC5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1996
    Last sequence update: February 1, 1996
    Last modified: October 1, 2014
    This is version 131 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 10
      Human chromosome 10: 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