LOCUS       NM_000539               2768 bp    mRNA    linear   PRI 12-DEC-2024
DEFINITION  Homo sapiens rhodopsin (RHO), mRNA.
ACCESSION   NM_000539
VERSION     NM_000539.3
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 2768)
  AUTHORS   Hu,Y., Li,G., Zhao,S., Dai,J., Peng,X. and Zhao,Q.
  TITLE     Charge transfer characteristics in rhodopsin mimics during
            photoexcitation
  JOURNAL   Phys Chem Chem Phys 26 (40), 26004-26011 (2024)
   PUBMED   39370953
  REMARK    GeneRIF: Charge transfer characteristics in rhodopsin mimics during
            photoexcitation.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2768)
  AUTHORS   Chai,Z., Ye,Y., Silverman,D., Rose,K., Madura,A., Reed,R.R.,
            Chen,J. and Yau,K.W.
  TITLE     Dark continuous noise from mutant G90D-rhodopsin predominantly
            underlies congenital stationary night blindness
  JOURNAL   Proc Natl Acad Sci U S A 121 (21), e2404763121 (2024)
   PUBMED   38743626
  REMARK    GeneRIF: Dark continuous noise from mutant G90D-rhodopsin
            predominantly underlies congenital stationary night blindness.
REFERENCE   3  (bases 1 to 2768)
  AUTHORS   Zhuang,J., Zhang,R., Zhou,B., Cao,Z., Zhou,J., Chen,X., Zhang,N.,
            Zhu,Y. and Yang,J.
  TITLE     Mutation analysis of RHO in patients with non-syndromic retinitis
            pigmentosa
  JOURNAL   Ophthalmic Genet 45 (2), 147-152 (2024)
   PUBMED   38284172
  REMARK    GeneRIF: Mutation analysis of RHO in patients with non-syndromic
            retinitis pigmentosa.
REFERENCE   4  (bases 1 to 2768)
  AUTHORS   Tsutsui,S., Murakami,Y., Fujiwara,K., Koyanagi,Y., Akiyama,M.,
            Takeda,A., Ikeda,Y. and Sonoda,K.H.
  TITLE     Genotypes and clinical features of RHO-associated retinitis
            pigmentosa in a Japanese population
  JOURNAL   Jpn J Ophthalmol 68 (1), 1-11 (2024)
   PUBMED   38070066
  REMARK    GeneRIF: Genotypes and clinical features of RHO-associated
            retinitis pigmentosa in a Japanese population.
REFERENCE   5  (bases 1 to 2768)
  AUTHORS   Struts,A.V., Barmasov,A.V., Fried,S.D.E., Hewage,K.S.K.,
            Perera,S.M.D.C. and Brown,M.F.
  TITLE     Osmotic stress studies of G-protein-coupled receptor rhodopsin
            activation
  JOURNAL   Biophys Chem 304, 107112 (2024)
   PUBMED   37952496
  REMARK    GeneRIF: Osmotic stress studies of G-protein-coupled receptor
            rhodopsin activation.
REFERENCE   6  (bases 1 to 2768)
  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
REFERENCE   7  (bases 1 to 2768)
  AUTHORS   Farrar,G.J., Findlay,J.B., Kumar-Singh,R., Kenna,P.,
            Humphries,M.M., Sharpe,E. and Humphries,P.
  TITLE     Autosomal dominant retinitis pigmentosa: a novel mutation in the
            rhodopsin gene in the original 3q linked family
  JOURNAL   Hum Mol Genet 1 (9), 769-771 (1992)
   PUBMED   1302614
REFERENCE   8  (bases 1 to 2768)
  AUTHORS   Robinson,P.R., Cohen,G.B., Zhukovsky,E.A. and Oprian,D.D.
  TITLE     Constitutively active mutants of rhodopsin
  JOURNAL   Neuron 9 (4), 719-725 (1992)
   PUBMED   1356370
REFERENCE   9  (bases 1 to 2768)
  AUTHORS   Fujiki,K., Hotta,Y., Hayakawa,M., Sakuma,H., Shiono,T., Noro,M.,
            Sakuma,T., Tamai,M., Hikiji,K., Kawaguchi,R. et al.
  TITLE     Point mutations of rhodopsin gene found in Japanese families with
            autosomal dominant retinitis pigmentosa (ADRP)
  JOURNAL   Jpn J Hum Genet 37 (2), 125-132 (1992)
   PUBMED   1391967
REFERENCE   10 (bases 1 to 2768)
  AUTHORS   Inglehearn,C.F., Keen,T.J., Bashir,R., Jay,M., Fitzke,F.,
            Bird,A.C., Crombie,A. and Bhattacharya,S.
  TITLE     A completed screen for mutations of the rhodopsin gene in a panel
            of patients with autosomal dominant retinitis pigmentosa
  JOURNAL   Hum Mol Genet 1 (1), 41-45 (1992)
   PUBMED   1301135
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC080007.26.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 13, 2008 this sequence version replaced NM_000539.2.
            
            Summary: The protein encoded by this gene is found in rod cells in
            the back of the eye and is essential for vision in low-light
            conditions. The encoded protein binds to 11-cis retinal and is
            activated when light hits the retinal molecule. Defects in this
            gene are a cause of congenital stationary night blindness.
            [provided by RefSeq, Aug 2017].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: BX537381.1, BC112104.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA2142680,
                                           SAMEA2144333 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000296271.4/ ENSP00000296271.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-456               AC080007.26        37704-38159         c
            457-625             AC080007.26        35754-35922         c
            626-791             AC080007.26        34382-34547         c
            792-1031            AC080007.26        34026-34265         c
            1032-2768           AC080007.26        31454-33190         c
FEATURES             Location/Qualifiers
     source          1..2768
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.1"
     gene            1..2768
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
                     /note="rhodopsin"
                     /db_xref="GeneID:6010"
                     /db_xref="HGNC:HGNC:10012"
                     /db_xref="MIM:180380"
     exon            1..456
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
                     /inference="alignment:Splign:2.1.0"
     CDS             96..1142
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
                     /note="opsin 2, rod pigment; opsin-2"
                     /codon_start=1
                     /product="rhodopsin"
                     /protein_id="NP_000530.1"
                     /db_xref="CCDS:CCDS3063.1"
                     /db_xref="GeneID:6010"
                     /db_xref="HGNC:HGNC:10012"
                     /db_xref="MIM:180380"
                     /translation="MNGTEGPNFYVPFSNATGVVRSPFEYPQYYLAEPWQFSMLAAYM
                     FLLIVLGFPINFLTLYVTVQHKKLRTPLNYILLNLAVADLFMVLGGFTSTLYTSLHGY
                     FVFGPTGCNLEGFFATLGGEIALWSLVVLAIERYVVVCKPMSNFRFGENHAIMGVAFT
                     WVMALACAAPPLAGWSRYIPEGLQCSCGIDYYTLKPEVNNESFVIYMFVVHFTIPMII
                     IFFCYGQLVFTVKEAAAQQQESATTQKAEKEVTRMVIIMVIAFLICWVPYASVAFYIF
                     THQGSNFGPIFMTIPAFFAKSAAIYNPVIYIMMNKQFRNCMLTTICCGKNPLGDDEAS
                     ATVSKTETSQVAPA"
     exon            457..625
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
                     /inference="alignment:Splign:2.1.0"
     exon            626..791
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
                     /inference="alignment:Splign:2.1.0"
     exon            792..1031
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1032..2768
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1506..1511
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
     polyA_site      1530
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
     polyA_site      1786
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
     polyA_site      1835
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
     regulatory      2563..2568
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
     polyA_site      2593
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
ORIGIN      
        1 agagtcatcc agctggagcc ctgagtggct gagctcaggc cttcgcagca ttcttgggtg
       61 ggagcagcca cgggtcagcc acaagggcca cagccatgaa tggcacagaa ggccctaact
      121 tctacgtgcc cttctccaat gcgacgggtg tggtacgcag ccccttcgag tacccacagt
      181 actacctggc tgagccatgg cagttctcca tgctggccgc ctacatgttt ctgctgatcg
      241 tgctgggctt ccccatcaac ttcctcacgc tctacgtcac cgtccagcac aagaagctgc
      301 gcacgcctct caactacatc ctgctcaacc tagccgtggc tgacctcttc atggtcctag
      361 gtggcttcac cagcaccctc tacacctctc tgcatggata cttcgtcttc gggcccacag
      421 gatgcaattt ggagggcttc tttgccaccc tgggcggtga aattgccctg tggtccttgg
      481 tggtcctggc catcgagcgg tacgtggtgg tgtgtaagcc catgagcaac ttccgcttcg
      541 gggagaacca tgccatcatg ggcgttgcct tcacctgggt catggcgctg gcctgcgccg
      601 cacccccact cgccggctgg tccaggtaca tccccgaggg cctgcagtgc tcgtgtggaa
      661 tcgactacta cacgctcaag ccggaggtca acaacgagtc ttttgtcatc tacatgttcg
      721 tggtccactt caccatcccc atgattatca tctttttctg ctatgggcag ctcgtcttca
      781 ccgtcaagga ggccgctgcc cagcagcagg agtcagccac cacacagaag gcagagaagg
      841 aggtcacccg catggtcatc atcatggtca tcgctttcct gatctgctgg gtgccctacg
      901 ccagcgtggc attctacatc ttcacccacc agggctccaa cttcggtccc atcttcatga
      961 ccatcccagc gttctttgcc aagagcgccg ccatctacaa ccctgtcatc tatatcatga
     1021 tgaacaagca gttccggaac tgcatgctca ccaccatctg ctgcggcaag aacccactgg
     1081 gtgacgatga ggcctctgct accgtgtcca agacggagac gagccaggtg gccccggcct
     1141 aagacctgcc taggactctg tggccgacta taggcgtctc ccatccccta caccttcccc
     1201 cagccacagc catcccacca ggagcagcgc ctgtgcagaa tgaacgaagt cacataggct
     1261 ccttaatttt tttttttttt ttaagaaata attaatgagg ctcctcactc acctgggaca
     1321 gcctgagaag ggacatccac caagacctac tgatctggag tcccacgttc cccaaggcca
     1381 gcgggatgtg tgcccctcct cctcccaact catctttcag gaacacgagg attcttgctt
     1441 tctggaaaag tgtcccagct tagggataag tgtctagcac agaatggggc acacagtagg
     1501 tgcttaataa atgctggatg gatgcaggaa ggaatggagg aatgaatggg aagggagaac
     1561 atatctatcc tctcagaccc tcgcagcagc agcaactcat acttggctaa tgatatggag
     1621 cagttgtttt tccctccctg ggcctcactt tcttctccta taaaatggaa atcccagatc
     1681 cctggtcctg ccgacacgca gctactgaga agaccaaaag aggtgtgtgt gtgtctatgt
     1741 gtgtgtttca gcactttgta aatagcaaga agctgtacag attctagtta atgttgtgaa
     1801 taacatcaat taatgtaact agttaattac tatgattatc acctcctgat agtgaacatt
     1861 ttgagattgg gcattcagat gatggggttt cacccaacct tggggcaggt ttttaaaaat
     1921 tagctaggca tcaaggccag accagggctg ggggttgggc tgtaggcagg gacagtcaca
     1981 ggaatgcaga atgcagtcat cagacctgaa aaaacaacac tgggggaggg ggacggtgaa
     2041 ggccaagttc ccaatgaggg tgagattggg cctggggtct cacccctagt gtggggcccc
     2101 aggtcccgtg cctccccttc ccaatgtggc ctatggagag acaggccttt ctctcagcct
     2161 ctggaagcca cctgctcttt tgctctagca cctgggtccc agcatctaga gcatggagcc
     2221 tctagaagcc atgctcaccc gcccacattt aattaacagc tgagtccctg atgtcatcct
     2281 tatctcgaag agcttagaaa caaagagtgg gaaattccac tgggcctacc ttccttgggg
     2341 atgttcatgg gccccagttt ccagtttccc ttgccagaca agcccatctt cagcagttgc
     2401 tagtccattc tccattctgg agaatctgct ccaaaaagct ggccacatct ctgaggtgtc
     2461 agaattaagc tgcctcagta actgctcccc cttctccata taagcaaagc cagaagctct
     2521 agctttaccc agctctgcct ggagactaag gcaaattggg ccattaaaag ctcagctcct
     2581 atgttggtat taacggtggt gggttttgtt gctttcacac tctatccaca ggatagattg
     2641 aaactgccag cttccacctg atccctgacc ctgggatggc tggattgagc aatgagcaga
     2701 gccaagcagc acagagtccc ctggggctag aggtggagga ggcagtcctg ggaatgggaa
     2761 aaacccca
//
