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P47804 (RGR_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 126. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
RPE-retinal G protein-coupled receptor
Gene names
Name:RGR
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length291 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subcellular location

Membrane; Multi-pass membrane protein.

Tissue specificity

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

Post-translational modification

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

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Sequence similarities

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

Binary interactions

With

Entry

#Exp.

IntAct

Notes

KIAA1279Q96EK52EBI-745818,EBI-744150

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P47804-1)

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.
Isoform 2 (identifier: P47804-2)

Also known as: Long;

The sequence of this isoform differs from the canonical sequence as follows:
     78-78: L → LRVSH
Isoform 3 (identifier: P47804-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 291291RPE-retinal G protein-coupled receptor
PRO_0000197822

Regions

Topological domain1 – 1515Extracellular Potential
Transmembrane16 – 3621Helical; Name=1; Potential
Topological domain37 – 5216Cytoplasmic Potential
Transmembrane53 – 7321Helical; Name=2; Potential
Topological domain74 – 9118Extracellular Potential
Transmembrane92 – 11221Helical; Name=3; Potential
Topological domain113 – 13018Cytoplasmic Potential
Transmembrane131 – 15121Helical; Name=4; Potential
Topological domain152 – 17524Extracellular Potential
Transmembrane176 – 19621Helical; Name=5; Potential
Topological domain197 – 21923Cytoplasmic Potential
Transmembrane220 – 24021Helical; Name=6; Potential
Topological domain241 – 2477Extracellular Potential
Transmembrane248 – 26821Helical; Name=7; Potential
Topological domain269 – 29123Cytoplasmic Potential

Amino acid modifications

Modified residue2551N6-(retinylidene)lysine By similarity
Glycosylation1721N-linked (GlcNAc...) Potential
Disulfide bond88 ↔ 162 Potential

Natural variations

Alternative sequence781L → LRVSH in isoform 2.
VSP_003773
Alternative sequence211 – 24838Missing in isoform 3.
VSP_038387
Natural variant661S → R in RP44. Ref.4
VAR_017034
Natural variant1321V → L. Ref.4
VAR_017055
Natural variant1521H → N. Ref.4
Corresponds to variant rs150808273 [ dbSNP | Ensembl ].
VAR_017056
Natural variant2341A → T. Ref.4
VAR_017058
Natural variant2411S → F. Ref.4
VAR_017057

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Short) [UniParc].

Last modified February 1, 1996. Version 1.
Checksum: 85AB087E09719E88

FASTA29131,874
        10         20         30         40         50         60 
MAETSALPTG FGELEVLAVG MVLLVEALSG LSLNTLTIFS FCKTPELRTP CHLLVLSLAL 

        70         80         90        100        110        120 
ADSGISLNAL VAATSSLLRR WPYGSDGCQA HGFQGFVTAL ASICSSAAIA WGRYHHYCTR 

       130        140        150        160        170        180 
SQLAWNSAVS LVLFVWLSSA FWAALPLLGW GHYDYEPLGT CCTLDYSKGD RNFTSFLFTM 

       190        200        210        220        230        240 
SFFNFAMPLF ITITSYSLME QKLGKSGHLQ VNTTLPARTL LLGWGPYAIL YLYAVIADVT 

       250        260        270        280        290 
SISPKLQMVP ALIAKMVPTI NAINYALGNE MVCRGIWQCL SPQKREKDRT K 

« Hide

Isoform 2 (Long) [UniParc].

Checksum: 4224150E95726B6D
Show »

FASTA29532,354
Isoform 3 [UniParc].

Checksum: 4D610689536B5767
Show »

FASTA25327,728

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Web resources

Mutations of the RGR gene

Retina International's Scientific Newsletter

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U15790 expand/collapse EMBL AC list , 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.
PIRA55980.
B55980.
RefSeqNP_001012738.1. NM_001012720.1.
NP_001012740.1. NM_001012722.1.
NP_002912.2. NM_002921.3.
UniGeneHs.1544.

3D structure databases

ProteinModelPortalP47804.
SMRP47804. Positions 13-270.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111927. 1 interaction.
IntActP47804. 1 interaction.
MINTMINT-1452896.
STRING9606.ENSP00000352427.

Protein family/group databases

GPCRDBSearch...

Polymorphism databases

DMDM1350592.

Proteomic databases

PaxDbP47804.
PRIDEP47804.

Protocols and materials databases

DNASU5995.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000358110; ENSP00000350823; ENSG00000148604. [P47804-3]
ENST00000359452; ENSP00000352427; ENSG00000148604. [P47804-2]
GeneID5995.
KEGGhsa:5995.
UCSCuc001kdc.1. human. [P47804-1]
uc001kdd.1. human. [P47804-2]
uc001kde.1. human. [P47804-3]

Organism-specific databases

CTD5995.
GeneCardsGC10P085994.
HGNCHGNC:9990. RGR.
MIM600342. gene.
613769. phenotype.
neXtProtNX_P47804.
Orphanet791. Retinitis pigmentosa.
PharmGKBPA34360.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG236124.
HOGENOMHOG000293329.
HOVERGENHBG017721.
KOK04254.
OMAFCWGPYG.
OrthoDBEOG75MVWJ.
PhylomeDBP47804.
TreeFamTF324998.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.

Gene expression databases

ArrayExpressP47804.
BgeeP47804.
CleanExHS_RGR.
GenevestigatorP47804.

Family and domain databases

Gene3D1.20.1070.10. 1 hit.
InterProIPR000355. Chemokine_rcpt.
IPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
IPR027430. Retinal_BS.
IPR001793. RPE_GPCR.
[Graphical view]
PANTHERPTHR24227. PTHR24227. 1 hit.
PfamPF00001. 7tm_1. 1 hit.
[Graphical view]
PRINTSPR00237. GPCRRHODOPSN.
PR00667. RPERETINALR.
PROSITEPS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
PS00238. OPSIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiRetinal_G_protein_coupled_receptor.
GenomeRNAi5995.
NextBio23359.
PROP47804.
SOURCESearch...

Entry information

Entry nameRGR_HUMAN
AccessionPrimary (citable) accession number: P47804
Secondary accession number(s): A6NKK7, Q96FC5
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: April 16, 2014
This is version 126 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM

7-transmembrane G-linked receptors

List of 7-transmembrane G-linked receptor entries