RGR_HUMAN
ID RGR_HUMAN Reviewed; 291 AA.
AC P47804; A6NKK7; Q96FC5;
DT 01-FEB-1996, integrated into UniProtKB/Swiss-Prot.
DT 01-FEB-1996, sequence version 1.
DT 03-AUG-2022, entry version 181.
DE RecName: Full=RPE-retinal G protein-coupled receptor;
GN Name=RGR;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Retina;
RX PubMed=7947717; DOI=10.1021/bi00248a022;
RA Shen D., Jiang M., Hao W., Tao L., Salazar M., Fong H.K.W.;
RT "A human opsin-related gene that encodes a retinaldehyde-binding protein.";
RL Biochemistry 33:13117-13125(1994).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 1-265 (ISOFORM 3).
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP VARIANT RP44 ARG-66, AND VARIANTS LEU-132; ASN-152; THR-234 AND PHE-241.
RX PubMed=10581022; DOI=10.1038/70496;
RA Morimura H., Saindelle-Ribeaudeau F., Berson E.L., Dryja T.P.;
RT "Mutations in RGR, encoding a light-sensitive opsin homologue, in patients
RT with retinitis pigmentosa.";
RL Nat. Genet. 23:393-394(1999).
CC -!- FUNCTION: Receptor for all-trans- and 11-cis-retinal. Binds
CC preferentially to the former and may catalyze the isomerization of the
CC chromophore by a retinochrome-like mechanism.
CC -!- INTERACTION:
CC P47804; Q96EK5: KIFBP; NbExp=2; IntAct=EBI-745818, EBI-744150;
CC P47804-3; P46379-2: BAG6; NbExp=3; IntAct=EBI-25834767, EBI-10988864;
CC P47804-3; P55212: CASP6; NbExp=3; IntAct=EBI-25834767, EBI-718729;
CC P47804-3; P06307: CCK; NbExp=3; IntAct=EBI-25834767, EBI-6624398;
CC P47804-3; P28329-3: CHAT; NbExp=3; IntAct=EBI-25834767, EBI-25837549;
CC P47804-3; Q8NI60: COQ8A; NbExp=3; IntAct=EBI-25834767, EBI-745535;
CC P47804-3; P02489: CRYAA; NbExp=3; IntAct=EBI-25834767, EBI-6875961;
CC P47804-3; G5E9A7: DMWD; NbExp=3; IntAct=EBI-25834767, EBI-10976677;
CC P47804-3; O14645: DNALI1; NbExp=3; IntAct=EBI-25834767, EBI-395638;
CC P47804-3; P22607: FGFR3; NbExp=3; IntAct=EBI-25834767, EBI-348399;
CC P47804-3; Q14957: GRIN2C; NbExp=3; IntAct=EBI-25834767, EBI-8285963;
CC P47804-3; P06396: GSN; NbExp=3; IntAct=EBI-25834767, EBI-351506;
CC P47804-3; O00291: HIP1; NbExp=3; IntAct=EBI-25834767, EBI-473886;
CC P47804-3; O14901: KLF11; NbExp=3; IntAct=EBI-25834767, EBI-948266;
CC P47804-3; Q92876: KLK6; NbExp=3; IntAct=EBI-25834767, EBI-2432309;
CC P47804-3; P13473-2: LAMP2; NbExp=3; IntAct=EBI-25834767, EBI-21591415;
CC P47804-3; Q9BVL2: NUP58; NbExp=3; IntAct=EBI-25834767, EBI-2811583;
CC P47804-3; D3DTS7: PMP22; NbExp=3; IntAct=EBI-25834767, EBI-25882629;
CC P47804-3; P62826: RAN; NbExp=3; IntAct=EBI-25834767, EBI-286642;
CC P47804-3; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-25834767, EBI-5235340;
CC P47804-3; Q86WV8: TSC1; NbExp=3; IntAct=EBI-25834767, EBI-12806590;
CC P47804-3; Q9UMX0: UBQLN1; NbExp=3; IntAct=EBI-25834767, EBI-741480;
CC P47804-3; Q9Y649; NbExp=3; IntAct=EBI-25834767, EBI-25900580;
CC -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1; Synonyms=Short;
CC IsoId=P47804-1; Sequence=Displayed;
CC Name=2; Synonyms=Long;
CC IsoId=P47804-2; Sequence=VSP_003773;
CC Name=3;
CC IsoId=P47804-3; Sequence=VSP_038387;
CC -!- TISSUE SPECIFICITY: Preferentially expressed at high levels in the
CC retinal pigment epithelium (RPE) and Mueller cells of the neural
CC retina.
CC -!- PTM: Covalently binds all-trans- and 11-cis-retinal.
CC -!- DISEASE: Retinitis pigmentosa 44 (RP44) [MIM:613769]: A retinal
CC dystrophy belonging to the group of pigmentary retinopathies. Retinitis
CC pigmentosa is characterized by retinal pigment deposits visible on
CC fundus examination and primary loss of rod photoreceptor cells followed
CC by secondary loss of cone photoreceptors. Patients typically have night
CC vision blindness and loss of midperipheral visual field. As their
CC condition progresses, they lose their far peripheral visual field and
CC eventually central vision as well. {ECO:0000269|PubMed:10581022}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
CC -!- SIMILARITY: Belongs to the G-protein coupled receptor 1 family. Opsin
CC subfamily. {ECO:0000255|PROSITE-ProRule:PRU00521}.
CC -!- WEB RESOURCE: Name=Mutations of the RGR gene; Note=Retina
CC International's Scientific Newsletter;
CC URL="https://www.retina-international.org/files/sci-news/rgrmut.htm";
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DR EMBL; U15790; AAB92384.1; -; Genomic_DNA.
DR EMBL; U14911; AAB92384.1; JOINED; Genomic_DNA.
DR EMBL; U15785; AAB92384.1; JOINED; Genomic_DNA.
DR EMBL; U15786; AAB92384.1; JOINED; Genomic_DNA.
DR EMBL; U15787; AAB92384.1; JOINED; Genomic_DNA.
DR EMBL; U15788; AAB92384.1; JOINED; Genomic_DNA.
DR EMBL; U15789; AAB92384.1; JOINED; Genomic_DNA.
DR EMBL; U14910; AAA56748.1; -; mRNA.
DR EMBL; AC022389; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BG912392; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC011349; AAH11349.1; -; mRNA.
DR CCDS; CCDS41543.1; -. [P47804-3]
DR CCDS; CCDS7374.1; -. [P47804-2]
DR PIR; A55980; A55980.
DR PIR; B55980; B55980.
DR RefSeq; NP_001012738.1; NM_001012720.1. [P47804-1]
DR RefSeq; NP_001012740.1; NM_001012722.1. [P47804-3]
DR RefSeq; NP_002912.2; NM_002921.3. [P47804-2]
DR AlphaFoldDB; P47804; -.
DR SMR; P47804; -.
DR BioGRID; 111927; 10.
DR IntAct; P47804; 26.
DR MINT; P47804; -.
DR STRING; 9606.ENSP00000352427; -.
DR GlyGen; P47804; 1 site.
DR iPTMnet; P47804; -.
DR PhosphoSitePlus; P47804; -.
DR BioMuta; RGR; -.
DR DMDM; 1350592; -.
DR MassIVE; P47804; -.
DR PaxDb; P47804; -.
DR PeptideAtlas; P47804; -.
DR PRIDE; P47804; -.
DR ProteomicsDB; 55796; -. [P47804-1]
DR ProteomicsDB; 55797; -. [P47804-2]
DR ProteomicsDB; 55798; -. [P47804-3]
DR Antibodypedia; 15900; 223 antibodies from 28 providers.
DR DNASU; 5995; -.
DR Ensembl; ENST00000358110.7; ENSP00000350823.5; ENSG00000148604.15. [P47804-3]
DR Ensembl; ENST00000359452.9; ENSP00000352427.4; ENSG00000148604.15. [P47804-2]
DR Ensembl; ENST00000652092.2; ENSP00000498299.1; ENSG00000148604.15. [P47804-1]
DR GeneID; 5995; -.
DR KEGG; hsa:5995; -.
DR MANE-Select; ENST00000652092.2; ENSP00000498299.1; NM_001012720.2; NP_001012738.1.
DR UCSC; uc001kdd.2; human. [P47804-1]
DR CTD; 5995; -.
DR DisGeNET; 5995; -.
DR GeneCards; RGR; -.
DR GeneReviews; RGR; -.
DR HGNC; HGNC:9990; RGR.
DR HPA; ENSG00000148604; Tissue enriched (retina).
DR MalaCards; RGR; -.
DR MIM; 600342; gene.
DR MIM; 613769; phenotype.
DR neXtProt; NX_P47804; -.
DR OpenTargets; ENSG00000148604; -.
DR Orphanet; 791; Retinitis pigmentosa.
DR PharmGKB; PA34360; -.
DR VEuPathDB; HostDB:ENSG00000148604; -.
DR eggNOG; KOG3656; Eukaryota.
DR GeneTree; ENSGT01050000244811; -.
DR HOGENOM; CLU_009579_3_2_1; -.
DR InParanoid; P47804; -.
DR OMA; CWGPYAL; -.
DR PhylomeDB; P47804; -.
DR TreeFam; TF324998; -.
DR PathwayCommons; P47804; -.
DR Reactome; R-HSA-418594; G alpha (i) signalling events.
DR Reactome; R-HSA-419771; Opsins.
DR SignaLink; P47804; -.
DR BioGRID-ORCS; 5995; 11 hits in 1062 CRISPR screens.
DR ChiTaRS; RGR; human.
DR GeneWiki; Retinal_G_protein_coupled_receptor; -.
DR GenomeRNAi; 5995; -.
DR Pharos; P47804; Tbio.
DR PRO; PR:P47804; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; P47804; protein.
DR Bgee; ENSG00000148604; Expressed in pigmented layer of retina and 117 other tissues.
DR ExpressionAtlas; P47804; baseline and differential.
DR Genevisible; P47804; HS.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:0001750; C:photoreceptor outer segment; IBA:GO_Central.
DR GO; GO:0008020; F:G protein-coupled photoreceptor activity; IBA:GO_Central.
DR GO; GO:0004930; F:G protein-coupled receptor activity; TAS:ProtInc.
DR GO; GO:0071482; P:cellular response to light stimulus; IBA:GO_Central.
DR GO; GO:0007186; P:G protein-coupled receptor signaling pathway; IBA:GO_Central.
DR GO; GO:0007602; P:phototransduction; IBA:GO_Central.
DR GO; GO:0007601; P:visual perception; TAS:ProtInc.
DR InterPro; IPR000276; GPCR_Rhodpsn.
DR InterPro; IPR017452; GPCR_Rhodpsn_7TM.
DR InterPro; IPR027430; Retinal_BS.
DR InterPro; IPR001793; RPE_GPCR.
DR Pfam; PF00001; 7tm_1; 1.
DR PRINTS; PR00237; GPCRRHODOPSN.
DR PRINTS; PR00667; RPERETINALR.
DR PROSITE; PS50262; G_PROTEIN_RECEP_F1_2; 1.
DR PROSITE; PS00238; OPSIN; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Chromophore; Disease variant; Disulfide bond;
KW G-protein coupled receptor; Glycoprotein; Membrane; Photoreceptor protein;
KW Receptor; Reference proteome; Retinal protein; Retinitis pigmentosa;
KW Sensory transduction; Transducer; Transmembrane; Transmembrane helix;
KW Vision.
FT CHAIN 1..291
FT /note="RPE-retinal G protein-coupled receptor"
FT /id="PRO_0000197822"
FT TOPO_DOM 1..15
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 16..36
FT /note="Helical; Name=1"
FT /evidence="ECO:0000255"
FT TOPO_DOM 37..52
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 53..73
FT /note="Helical; Name=2"
FT /evidence="ECO:0000255"
FT TOPO_DOM 74..91
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 92..112
FT /note="Helical; Name=3"
FT /evidence="ECO:0000255"
FT TOPO_DOM 113..130
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 131..151
FT /note="Helical; Name=4"
FT /evidence="ECO:0000255"
FT TOPO_DOM 152..175
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 176..196
FT /note="Helical; Name=5"
FT /evidence="ECO:0000255"
FT TOPO_DOM 197..219
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 220..240
FT /note="Helical; Name=6"
FT /evidence="ECO:0000255"
FT TOPO_DOM 241..247
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 248..268
FT /note="Helical; Name=7"
FT /evidence="ECO:0000255"
FT TOPO_DOM 269..291
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT MOD_RES 255
FT /note="N6-(retinylidene)lysine"
FT /evidence="ECO:0000250"
FT CARBOHYD 172
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 88..162
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00521"
FT VAR_SEQ 78
FT /note="L -> LRVSH (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:7947717"
FT /id="VSP_003773"
FT VAR_SEQ 211..248
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_038387"
FT VARIANT 66
FT /note="S -> R (in RP44; dbSNP:rs104894187)"
FT /evidence="ECO:0000269|PubMed:10581022"
FT /id="VAR_017034"
FT VARIANT 132
FT /note="V -> L (in dbSNP:rs370808520)"
FT /evidence="ECO:0000269|PubMed:10581022"
FT /id="VAR_017055"
FT VARIANT 152
FT /note="H -> N (in dbSNP:rs150808273)"
FT /evidence="ECO:0000269|PubMed:10581022"
FT /id="VAR_017056"
FT VARIANT 234
FT /note="A -> T (in dbSNP:rs377043137)"
FT /evidence="ECO:0000269|PubMed:10581022"
FT /id="VAR_017058"
FT VARIANT 241
FT /note="S -> F (in dbSNP:rs61730895)"
FT /evidence="ECO:0000269|PubMed:10581022"
FT /id="VAR_017057"
SQ SEQUENCE 291 AA; 31874 MW; 85AB087E09719E88 CRC64;
MAETSALPTG FGELEVLAVG MVLLVEALSG LSLNTLTIFS FCKTPELRTP CHLLVLSLAL
ADSGISLNAL VAATSSLLRR WPYGSDGCQA HGFQGFVTAL ASICSSAAIA WGRYHHYCTR
SQLAWNSAVS LVLFVWLSSA FWAALPLLGW GHYDYEPLGT CCTLDYSKGD RNFTSFLFTM
SFFNFAMPLF ITITSYSLME QKLGKSGHLQ VNTTLPARTL LLGWGPYAIL YLYAVIADVT
SISPKLQMVP ALIAKMVPTI NAINYALGNE MVCRGIWQCL SPQKREKDRT K
