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Protein

RPE-retinal G protein-coupled receptor

Gene

RGR

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

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

  • G-protein coupled receptor activity Source: ProtInc
  • photoreceptor activity Source: UniProtKB-KW

GO - Biological processi

  • G-protein coupled receptor signaling pathway Source: ProtInc
  • phototransduction Source: UniProtKB-KW
  • protein-chromophore linkage Source: UniProtKB-KW
  • visual perception Source: ProtInc
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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000148604-MONOMER.
ReactomeiR-HSA-418594. G alpha (i) signalling events.
R-HSA-419771. Opsins.

Names & Taxonomyi

Protein namesi
Recommended name:
RPE-retinal G protein-coupled receptor
Gene namesi
Name:RGR
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:9990. RGR.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 15ExtracellularSequence analysisAdd BLAST15
Transmembranei16 – 36Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini37 – 52CytoplasmicSequence analysisAdd BLAST16
Transmembranei53 – 73Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini74 – 91ExtracellularSequence analysisAdd BLAST18
Transmembranei92 – 112Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini113 – 130CytoplasmicSequence analysisAdd BLAST18
Transmembranei131 – 151Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini152 – 175ExtracellularSequence analysisAdd BLAST24
Transmembranei176 – 196Helical; Name=5Sequence analysisAdd BLAST21
Topological domaini197 – 219CytoplasmicSequence analysisAdd BLAST23
Transmembranei220 – 240Helical; Name=6Sequence analysisAdd BLAST21
Topological domaini241 – 247ExtracellularSequence analysis7
Transmembranei248 – 268Helical; Name=7Sequence analysisAdd BLAST21
Topological domaini269 – 291CytoplasmicSequence analysisAdd BLAST23

GO - Cellular componenti

  • integral component of plasma membrane Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 44 (RP44)1 Publication
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:613769
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01703466S → R in RP44. 1 Publication1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNETi5995.
MalaCardsiRGR.
MIMi613769. phenotype.
OpenTargetsiENSG00000148604.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA34360.

Polymorphism and mutation databases

BioMutaiRGR.
DMDMi1350592.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001978221 – 291RPE-retinal G protein-coupled receptorAdd BLAST291

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi88 ↔ 162PROSITE-ProRule annotation
Glycosylationi172N-linked (GlcNAc...)Sequence analysis1
Modified residuei255N6-(retinylidene)lysineBy similarity1

Post-translational modificationi

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

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP47804.
PeptideAtlasiP47804.
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

BgeeiENSG00000148604.
CleanExiHS_RGR.
ExpressionAtlasiP47804. baseline and differential.
GenevisibleiP47804. HS.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
KIF1BPQ96EK52EBI-745818,EBI-744150

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliP47804.
ModBaseiSearch...
MobiDBiSearch...

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

eggNOGiKOG3656. Eukaryota.
ENOG410XRW9. LUCA.
GeneTreeiENSGT00760000119394.
HOGENOMiHOG000293329.
HOVERGENiHBG017721.
InParanoidiP47804.
KOiK04254.
OMAiSHRRWPY.
OrthoDBiEOG091G0CL2.
PhylomeDBiP47804.
TreeFamiTF324998.

Family and domain databases

InterProiIPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
IPR027430. Retinal_BS.
IPR001793. RPE_GPCR.
[Graphical view]
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. AlignAdd to basket

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

        10         20         30         40         50
MAETSALPTG FGELEVLAVG MVLLVEALSG LSLNTLTIFS FCKTPELRTP
60 70 80 90 100
CHLLVLSLAL ADSGISLNAL VAATSSLLRR WPYGSDGCQA HGFQGFVTAL
110 120 130 140 150
ASICSSAAIA WGRYHHYCTR SQLAWNSAVS LVLFVWLSSA FWAALPLLGW
160 170 180 190 200
GHYDYEPLGT CCTLDYSKGD RNFTSFLFTM SFFNFAMPLF ITITSYSLME
210 220 230 240 250
QKLGKSGHLQ VNTTLPARTL LLGWGPYAIL YLYAVIADVT SISPKLQMVP
260 270 280 290
ALIAKMVPTI NAINYALGNE MVCRGIWQCL SPQKREKDRT K
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_01703466S → R in RP44. 1 Publication1
Natural variantiVAR_017055132V → L.1 Publication1
Natural variantiVAR_017056152H → N.1 PublicationCorresponds to variant rs150808273dbSNPEnsembl.1
Natural variantiVAR_017058234A → T.1 Publication1
Natural variantiVAR_017057241S → F.1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00377378L → LRVSH in isoform 2. 2 Publications1
Alternative sequenceiVSP_038387211 – 248Missing in isoform 3. 1 PublicationAdd BLAST38

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.
UCSCiuc001kdd.2. human. [P47804-1]

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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliP47804.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

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

Protein family/group databases

GPCRDBiSearch...

Polymorphism and mutation databases

BioMutaiRGR.
DMDMi1350592.

Proteomic databases

PaxDbiP47804.
PeptideAtlasiP47804.
PRIDEiP47804.

Protocols and materials databases

DNASUi5995.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000358110; ENSP00000350823; ENSG00000148604. [P47804-3]
ENST00000359452; ENSP00000352427; ENSG00000148604. [P47804-2]
GeneIDi5995.
KEGGihsa:5995.
UCSCiuc001kdd.2. human. [P47804-1]

Organism-specific databases

CTDi5995.
DisGeNETi5995.
GeneCardsiRGR.
GeneReviewsiRGR.
HGNCiHGNC:9990. RGR.
MalaCardsiRGR.
MIMi600342. gene.
613769. phenotype.
neXtProtiNX_P47804.
OpenTargetsiENSG00000148604.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA34360.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3656. Eukaryota.
ENOG410XRW9. LUCA.
GeneTreeiENSGT00760000119394.
HOGENOMiHOG000293329.
HOVERGENiHBG017721.
InParanoidiP47804.
KOiK04254.
OMAiSHRRWPY.
OrthoDBiEOG091G0CL2.
PhylomeDBiP47804.
TreeFamiTF324998.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000148604-MONOMER.
ReactomeiR-HSA-418594. G alpha (i) signalling events.
R-HSA-419771. Opsins.

Miscellaneous databases

GeneWikiiRetinal_G_protein_coupled_receptor.
GenomeRNAii5995.
PROiP47804.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000148604.
CleanExiHS_RGR.
ExpressionAtlasiP47804. baseline and differential.
GenevisibleiP47804. HS.

Family and domain databases

InterProiIPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
IPR027430. Retinal_BS.
IPR001793. RPE_GPCR.
[Graphical view]
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]
ProtoNetiSearch...

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: November 2, 2016
This is version 146 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

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.