RGR
RPE-retinal G protein-coupled receptor
Also known as: RGR_HUMAN, RP44
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P47804
- Gene
- RGR
- Ensembl
- ENSG00000148604
- Chromosome
- 10
- Canonical length
- 291 aa
- Protein class
- Disease related genes, G-protein coupled receptors, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Vesicles,Plasma membrane,Cytosol
OverviewNCBI Gene
This gene encodes a putative retinal G-protein coupled receptor. The gene is a member of the opsin subfamily of the 7 transmembrane, G-protein coupled receptor 1 family. Like other opsins which bind retinaldehyde, it contains a conserved lysine residue in the seventh transmembrane domain. The protein acts as a photoisomerase to catalyze the conversion of all-trans-retinal to 11-cis-retinal. The reverse isomerization occurs with rhodopsin in retinal photoreceptor cells. The protein is exclusively expressed in tissue adjacent to retinal photoreceptor cells, the retinal pigment epithelium and Mueller cells. This gene may be associated with autosomal recessive and autosomal dominant retinitis pigmentosa (arRP and adRP, respectively). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
291 residues, UniProt reviewed canonical sequence.
>P47804|RGR
1 MAETSALPTG FGELEVLAVG MVLLVEALSG LSLNTLTIFS FCKTPELRTP CHLLVLSLAL
61 ADSGISLNAL VAATSSLLRR WPYGSDGCQA HGFQGFVTAL ASICSSAAIA WGRYHHYCTR
121 SQLAWNSAVS LVLFVWLSSA FWAALPLLGW GHYDYEPLGT CCTLDYSKGD RNFTSFLFTM
181 SFFNFAMPLF ITITSYSLME QKLGKSGHLQ VNTTLPARTL LLGWGPYAIL YLYAVIADVT
241 SISPKLQMVP ALIAKMVPTI NAINYALGNE MVCRGIWQCL SPQKREKDRT KLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RGR can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 7
- Mean surface accessibility (rSASA)
- 0.27
- Highest tissue expression
- 129 nTPM
Expression across tissuesHPA
Tissue
- retina: 129 nTPM
- choroid plexus: 32 nTPM
- cerebral cortex: 12 nTPM
- basal ganglia: 7.3 nTPM
- amygdala: 7.1 nTPM
- midbrain: 3.5 nTPM
Single-cell type
- retinal pigment epithelial cells: 2,639 nCPM
- müller glia: 1,640 nCPM
- late spermatids: 74 nCPM
- cone photoreceptor cells: 35 nCPM
- astrocytes: 26 nCPM
- early spermatids: 26 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- choroid plexus: 24 nTPM
- amygdala: 19 nTPM
- basal ganglia: 19 nTPM
- cerebral cortex: 16 nTPM
- thalamus: 15 nTPM
- hypothalamus: 12 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about RGR.
Disease | AllUniProt
Conditions RGR is implicated in, by any mechanism.
- Retinitis pigmentosa 44 (RP44) MIM:613769
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 324 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.69
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.28
- DepMap mean gene effect
- -0.07
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to light stimulus
- G protein-coupled receptor signaling pathway
- phototransduction
- visual perception
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RGR in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads RGR as an antibody target. Whether an autoantibody or antibody against RGR could matter depends on whether native RGR is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RGR is annotated at the cell surface, where native RGR is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label RGR as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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