RGR
entrez
5995
canonical
uniprot
P47804
canonical
ensembl
ENSG00000148604
resolver
ensp
ENSP00000350823
resolver
ensp
ENSP00000352427
resolver
ensp
ENSP00000498299
resolver
genesymbol
RGR
resolver
hgnc
HGNC:9990
resolver
uniprot
A0A0S2Z494
resolver
uniprot
A0A0S2Z498
resolver
uniprot
A6NKK7
resolver
uniprot
Q96FC5
resolver
uniprot_entry
A0A0S2Z494_HUMAN
resolver
uniprot_entry
A0A0S2Z498_HUMAN
resolver
uniprot_entry
RGR_HUMAN
resolver
uniprot_sec
A6NKK7
resolver
uniprot_sec
Q96FC5
resolver
amino_acid_sequence
MAETSALPTGFGELEVLAVGMVLLVEALSGLSLNTLTIFSFCKTPELRTPCHLLVLSLALADSGISLNALVAATSSLLRRWPYGSDGCQAHGFQGFVTALASICSSAAIAWGRYHHYCTRSQLAWNSAVSLVLFVWLSSAFWAALPLLGWGHYDYEPLGTCCTLDYSKGDRNFTSFLFTMSFFNFAMPLFITITSYSLMEQKLGKSGHLQVNTTLPARTLLLGWGPYAILYLYAVIADVTSISPKLQMVPALIAKMVPTINAINYALGNEMVCRGIWQCLSPQKREKDRTK
uniprot
proteins
disease_involvement
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. {ECO:0000269|PubMed:10581022}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Non-visual opsin that functions as a light-dependent facilitator of retinoid isomerization and trafficking in retinal pigment epithelium (RPE) and Mueller glia (PubMed:18474598). Participates in a photic visual cycle by complementing the classical enzymatic RPE65/RDH pathway for chromophore regeneration (By similarity). Binds all-trans-retinal via a conserved Schiff-base lysine and, upon illumination, promotes photoisomerization of all-trans-retinal to 11-cis-retinal required for regeneration of visual pigments (By similarity). Also mediates light-dependent mobilization of stored all-trans-retinyl esters from lipid droplets to endoplasmic reticulum membranes, facilitating their processing into 11-cis-retinoids (PubMed:18474598). May also modulate isomerohydrolase activity independent of light (By similarity). Although RGR is structurally a GPCR-family opsin, there is no consistent evidence that RGR activates G proteins or initiates a canonical second-messenger signaling cascade (Probable). {ECO:0000250|UniProtKB:Q9Z2B3, ECO:0000269|PubMed:18474598, ECO:0000305}.
uniprot
proteins
mass_dalton
31874
uniprot
proteins
post_translational_modification
PTM: Contains a covalently bound retinal chromophore linked via a Schiff base to a conserved lysine, and can bind both all-trans-retinal and 11-cis-retinal (PubMed:7947717). Upon illumination, mediates photoisomerization of all-trans-retinal to 11-cis-retinal (PubMed:7947717). {ECO:0000269|PubMed:7947717}.
uniprot
proteins
protein_family
G protein-coupled receptor 1 family
uniprot
proteins
protein_family
Opsin subfamily
uniprot
proteins
pubmed
10581022
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18474598
uniprot
proteins
pubmed
7947717
uniprot
proteins
sequence_length
291
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:Q9Z2B3}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 16..36; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 53..73; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 92..112; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 131..151; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 176..196; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 220..240; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 248..268; /note="Helical; Name=7"; /evidence="ECO:0000255
uniprot
proteins