LOCUS       NM_001012720            2235 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens retinal G protein coupled receptor (RGR), transcript
            variant 2, mRNA.
ACCESSION   NM_001012720
VERSION     NM_001012720.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2235)
  AUTHORS   Feng,J., Zhang,W., Zeng,W., Dong,X., Wang,Y., Gu,Y., Lan,Y.,
            Yang,W. and Lu,H.
  TITLE     Expression Analysis of Retinal G Protein-coupled Receptor and its
            Correlation with Regulation of the Balance between Proliferation
            and Aberrant Differentiation in Cutaneous Squamous Cell Carcinoma
  JOURNAL   Acta Derm Venereol 104, adv13213 (2024)
   PUBMED   38299232
  REMARK    GeneRIF: Expression Analysis of Retinal G Protein-coupled Receptor
            and its Correlation with Regulation of the Balance between
            Proliferation and Aberrant Differentiation in Cutaneous Squamous
            Cell Carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2235)
  AUTHORS   Ren,C., Cui,H., Bao,X., Huang,L., He,S., Fong,H.K.W. and Zhao,M.
  TITLE     Proteopathy Linked to Exon-Skipping Isoform of RGR-Opsin
            Contributes to the Pathogenesis of Age-Related Macular Degeneration
  JOURNAL   Invest Ophthalmol Vis Sci 64 (13), 41 (2023)
   PUBMED   37883094
  REMARK    GeneRIF: Proteopathy Linked to Exon-Skipping Isoform of RGR-Opsin
            Contributes to the Pathogenesis of Age-Related Macular
            Degeneration.
REFERENCE   3  (bases 1 to 2235)
  AUTHORS   Feng,J., Zhang,W., Zeng,W., Wang,Y., Gu,Y., Lan,Y., Yang,W. and
            Lu,H.
  TITLE     A pan-cancer analysis of RGR opsin expression and its
            downregulation associated with poor prognosis in glioma
  JOURNAL   Neoplasma 70 (5), 683-696 (2023)
   PUBMED   38053380
  REMARK    GeneRIF: A pan-cancer analysis of RGR opsin expression and its
            downregulation associated with poor prognosis in glioma.
REFERENCE   4  (bases 1 to 2235)
  AUTHORS   Mermeklieva,E., Kamenarova,K., Mihova,K., Shakola,F. and Kaneva,R.
  TITLE     A rare case of RGR/CDHR1 haplotype identified in Bulgarian patient
            with cone-rod dystrophy
  JOURNAL   Ophthalmic Genet 42 (6), 747-752 (2021)
   PUBMED   34229535
  REMARK    GeneRIF: A rare case of RGR/CDHR1 haplotype identified in Bulgarian
            patient with cone-rod dystrophy.
REFERENCE   5  (bases 1 to 2235)
  AUTHORS   Bao,X., Zhang,Z., Guo,Y., Buser,C., Kochounian,H., Wu,N., Li,X.,
            He,S., Sun,B., Ross-Cisneros,F.N., Sadun,A.A., Huang,L., Zhao,M.
            and Fong,H.K.W.
  TITLE     Human RGR Gene and Associated Features of Age-Related Macular
            Degeneration in Models of Retina-Choriocapillaris Atrophy
  JOURNAL   Am J Pathol 191 (8), 1454-1473 (2021)
   PUBMED   34022179
  REMARK    GeneRIF: Human RGR Gene and Associated Features of Age-Related
            Macular Degeneration in Models of Retina-Choriocapillaris Atrophy.
REFERENCE   6  (bases 1 to 2235)
  AUTHORS   Morimura,H., Saindelle-Ribeaudeau,F., Berson,E.L. and Dryja,T.P.
  TITLE     Mutations in RGR, encoding a light-sensitive opsin homologue, in
            patients with retinitis pigmentosa
  JOURNAL   Nat Genet 23 (4), 393-394 (1999)
   PUBMED   10581022
REFERENCE   7  (bases 1 to 2235)
  AUTHORS   Chen,X.N., Korenberg,J.R., Jiang,M., Shen,D. and Fong,H.K.
  TITLE     Localization of the human RGR opsin gene to chromosome 10q23
  JOURNAL   Hum Genet 97 (6), 720-722 (1996)
   PUBMED   8641686
REFERENCE   8  (bases 1 to 2235)
  AUTHORS   Jiang,M., Shen,D., Tao,L., Pandey,S., Heller,K. and Fong,H.K.
  TITLE     Alternative splicing in human retinal mRNA transcripts of an
            opsin-related protein
  JOURNAL   Exp Eye Res 60 (4), 401-406 (1995)
   PUBMED   7789419
REFERENCE   9  (bases 1 to 2235)
  AUTHORS   Shen,D., Jiang,M., Hao,W., Tao,L., Salazar,M. and Fong,H.K.
  TITLE     A human opsin-related gene that encodes a retinaldehyde-binding
            protein
  JOURNAL   Biochemistry 33 (44), 13117-13125 (1994)
   PUBMED   7947717
REFERENCE   10 (bases 1 to 2235)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U14910.1 and AC022389.9.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_001012720.1.
            
            Summary: 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].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 5' coding region, compared to variant 1,
            resulting in a shorter protein (isoform 2), compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.262935.1,
                                           SRR1803613.40360.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154665, SAMEA2157437
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000652092.2/ ENSP00000498299.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-496               U14910.1           1-496
            497-497             AC022389.9         111371-111371
            498-978             U14910.1           498-978
            979-1463            AC022389.9         117118-117602
            1464-2235           AC022389.9         117603-118374
FEATURES             Location/Qualifiers
     source          1..2235
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.1"
     gene            1..2235
                     /gene="RGR"
                     /gene_synonym="RP44"
                     /note="retinal G protein coupled receptor"
                     /db_xref="GeneID:5995"
                     /db_xref="HGNC:HGNC:9990"
                     /db_xref="MIM:600342"
     exon            1..117
                     /gene="RGR"
                     /gene_synonym="RP44"
                     /inference="alignment:Splign:2.1.0"
     CDS             39..914
                     /gene="RGR"
                     /gene_synonym="RP44"
                     /note="isoform 2 is encoded by transcript variant 2;
                     RGR-opsin; RPE-retinal G protein-coupled receptor"
                     /codon_start=1
                     /product="RPE-retinal G protein-coupled receptor isoform
                     2"
                     /protein_id="NP_001012738.1"
                     /db_xref="CCDS:CCDS91288.1"
                     /db_xref="GeneID:5995"
                     /db_xref="HGNC:HGNC:9990"
                     /db_xref="MIM:600342"
                     /translation="MAETSALPTGFGELEVLAVGMVLLVEALSGLSLNTLTIFSFCKT
                     PELRTPCHLLVLSLALADSGISLNALVAATSSLLRRWPYGSDGCQAHGFQGFVTALAS
                     ICSSAAIAWGRYHHYCTRSQLAWNSAVSLVLFVWLSSAFWAALPLLGWGHYDYEPLGT
                     CCTLDYSKGDRNFTSFLFTMSFFNFAMPLFITITSYSLMEQKLGKSGHLQVNTTLPAR
                     TLLLGWGPYAILYLYAVIADVTSISPKLQMVPALIAKMVPTINAINYALGNEMVCRGI
                     WQCLSPQKREKDRTK"
     exon            118..274
                     /gene="RGR"
                     /gene_synonym="RP44"
                     /inference="alignment:Splign:2.1.0"
     exon            275..396
                     /gene="RGR"
                     /gene_synonym="RP44"
                     /inference="alignment:Splign:2.1.0"
     exon            397..550
                     /gene="RGR"
                     /gene_synonym="RP44"
                     /inference="alignment:Splign:2.1.0"
     exon            551..668
                     /gene="RGR"
                     /gene_synonym="RP44"
                     /inference="alignment:Splign:2.1.0"
     exon            669..782
                     /gene="RGR"
                     /gene_synonym="RP44"
                     /inference="alignment:Splign:2.1.0"
     exon            783..2235
                     /gene="RGR"
                     /gene_synonym="RP44"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1414
                     /gene="RGR"
                     /gene_synonym="RP44"
                     /note="major polyA site"
     regulatory      1438..1443
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RGR"
                     /gene_synonym="RP44"
                     /note="hexamer: AATAAT"
     polyA_site      1461
                     /gene="RGR"
                     /gene_synonym="RP44"
                     /note="major polyA site"
     regulatory      1845..1850
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RGR"
                     /gene_synonym="RP44"
                     /note="hexamer: AATAAT"
     polyA_site      1870
                     /gene="RGR"
                     /gene_synonym="RP44"
     regulatory      2076..2081
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RGR"
                     /gene_synonym="RP44"
                     /note="hexamer: AATATA"
     polyA_site      2095
                     /gene="RGR"
                     /gene_synonym="RP44"
ORIGIN      
        1 agagacagct gggccactgg cagtgaggga gagtgaggat ggcagagacc agtgccctgc
       61 ccactggctt cggggagctc gaggtgctgg ctgtggggat ggtgctactg gtggaagctc
      121 tctccggtct cagcctcaat accctgacca tcttctcttt ctgcaagacc ccggagctgc
      181 ggactccctg ccacctactg gtgctgagct tggctcttgc ggacagtggg atcagcctga
      241 atgccctcgt tgcagccaca tccagccttc tccggcgctg gccctacggc tcggacggct
      301 gccaggctca cggcttccag ggctttgtga cagcgttggc cagcatctgc agcagtgcag
      361 ccatcgcatg ggggcgttat caccactact gcacccgtag ccagctggcc tggaactcag
      421 ccgtctctct ggtgctcttc gtgtggctgt cttctgcctt ctgggcagct ctgccccttc
      481 tgggttgggg tcactacgac tatgagccac tggggacatg ctgcaccctg gactactcca
      541 agggggacag aaacttcacc agcttcctct tcaccatgtc cttcttcaac ttcgccatgc
      601 ccctcttcat cacgatcact tcctacagtc tcatggagca gaaactgggg aagagtggcc
      661 atctccaggt aaacaccact ctgccagcaa ggacgctgct gctcggctgg ggcccctatg
      721 ccatcctgta tctatacgca gtcatcgcag acgtgacttc catctccccc aaactgcaga
      781 tggtgcccgc cctcattgcc aaaatggtgc ccacgatcaa tgccatcaac tatgccctgg
      841 gcaatgagat ggtctgcagg ggaatctggc agtgcctctc accgcagaag agggagaagg
      901 accgaaccaa gtgagcctgc caccctggag tgagccccag gccaggaggc tgttccagga
      961 gtcctgccca gcagcctcag tggccaagcc cagacactca cccaccttcc ccagtggccc
     1021 cgtggatcct ggtcctaggc tggacacagg attcagaaag acaccaggct gcacagaaag
     1081 agccagatgg acctgagtgt cggtcacagc cccctacact caaggctgag aggcctcagg
     1141 aaagtcattc ctttttaaaa ataataataa atgtaagggg gtacagtgca gttttgttac
     1201 atggatagat tgcctagtgg tgaagtctgg gcttttagtg taaccatcac cctaataata
     1261 tacgttgtac ccattaagtt atttctcatc cctcaccccc tcccaccttg tcacccttct
     1321 gagtctccaa tgtctattat tccacactcc atgtccacgt gtacacatta tttagctccc
     1381 acttacaagt gagaacatgt ggtatttgac tttctgtttt tgagttattt cacttaaaat
     1441 aatgacctcc agtttcatcc atgttgctgc aaaagacatg atctcgttct tttttatggc
     1501 agtgtagtat tccattccat atacatatat aaacgttata tatatgtaac gttttcttta
     1561 tccaatcatc tgttgatgga tagattccat atctttgcta ctgtaaacag ctgtgataag
     1621 catacaagtg caggtttctt tttgatatac tgatttcttt tcctttgggt agataccagt
     1681 agtaggactg ctggatcaaa tggtagctct atttttaaga cagtatggag aaatcaccat
     1741 actgttttcc ataggggttg tactaattta cagtcccacc aacagtgtat aggtgttccc
     1801 ttttctctgc atccttacca atatctgtaa ttttttgact ttttaataat agccattctc
     1861 acttgtgtga gataaggtct cattgtggtt ttaatttcca tttctctgat gacttttgat
     1921 gttaagcatt ttttcatatg cttcttagcc acgtgtatgt attctttttg aaaaaatgtt
     1981 tattcatgtc ttttgcccac tttttaatgg cattatttgg attttttttg ttgagttatt
     2041 tgagtttctt atatattctg gataatagtc tggataatat attctggata atatataata
     2101 gtcttatata ttctggatat attctggata catggtttgc aaatattttc tccggttctg
     2161 cacgttgttc attctgttga tggtttattt tgctgtgcag aaactttttt agtttaatta
     2221 agtcccattt gtcta
//
