LOCUS       NM_000513               1998 bp    mRNA    linear   PRI 03-APR-2024
DEFINITION  Homo sapiens opsin 1, medium wave sensitive (OPN1MW), mRNA.
ACCESSION   NM_000513 XM_351936
VERSION     NM_000513.2
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 1998)
  AUTHORS   Wissinger,B., Baumann,B., Buena-Atienza,E., Ravesh,Z.,
            Cideciyan,A.V., Stingl,K., Audo,I., Meunier,I., Bocquet,B.,
            Traboulsi,E.I., Hardcastle,A.J., Gardner,J.C., Michaelides,M.,
            Branham,K.E., Rosenberg,T., Andreasson,S., Dollfus,H., Birch,D.,
            Vincent,A.L., Martorell,L., Catala Mora,J., Kellner,U., Ruther,K.,
            Lorenz,B., Preising,M.N., Manfredini,E., Zarate,Y.A., Vijzelaar,R.,
            Zrenner,E., Jacobson,S.G. and Kohl,S.
  TITLE     The landscape of submicroscopic structural variants at the
            OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone
            monochromacy
  JOURNAL   Proc Natl Acad Sci U S A 119 (27), e2115538119 (2022)
   PUBMED   35759666
  REMARK    GeneRIF: The landscape of submicroscopic structural variants at the
            OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone
            monochromacy.
REFERENCE   2  (bases 1 to 1998)
  AUTHORS   Stingl,K., Baumann,B., De Angeli,P., Vincent,A., Heon,E.,
            Cordonnier,M., De Baere,E., Raskin,S., Sato,M.T., Shiokawa,N.,
            Kohl,S. and Wissinger,B.
  TITLE     Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in
            Patients with X-Linked Cone Dysfunction
  JOURNAL   Int J Mol Sci 23 (12), 6868 (2022)
   PUBMED   35743313
  REMARK    GeneRIF: Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing
            Defect in Patients with X-Linked Cone Dysfunction.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1998)
  AUTHORS   Neitz,M. and Neitz,J.
  TITLE     Intermixing the OPN1LW and OPN1MW Genes Disrupts the Exonic
            Splicing Code Causing an Array of Vision Disorders
  JOURNAL   Genes (Basel) 12 (8), 1180 (2021)
   PUBMED   34440353
  REMARK    GeneRIF: Intermixing the OPN1LW and OPN1MW Genes Disrupts the
            Exonic Splicing Code Causing an Array of Vision Disorders.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1998)
  AUTHORS   Salom,D., Jin,H., Gerken,T.A., Yu,C., Huang,L. and Palczewski,K.
  TITLE     Human red and green cone opsins are O-glycosylated at an N-terminal
            Ser/Thr-rich domain conserved in vertebrates
  JOURNAL   J Biol Chem 294 (20), 8123-8133 (2019)
   PUBMED   30948514
  REMARK    GeneRIF: These results suggest that O-glycosylation is a
            fundamental feature of red and green cone opsins, which may be
            relevant to their function or to cone cell development, and that
            differences in this post-translational modification also could
            contribute to the different morphologies of rod and cone
            photoreceptors.
REFERENCE   5  (bases 1 to 1998)
  AUTHORS   Buena-Atienza,E., Nasser,F., Kohl,S. and Wissinger,B.
  TITLE     A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene
            cluster in sporadic Blue Cone Monochromacy: a case report
  JOURNAL   BMC Med Genet 19 (1), 107 (2018)
   PUBMED   29940872
  REMARK    GeneRIF: Molecular genetic analysis of the OPN1LW/OPN1MW gene
            cluster revealed a novel deletion of about 73 kb in the patient
            encompassing the LCR.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1998)
  AUTHORS   Li,Z.Y., Kljavin,I.J. and Milam,A.H.
  TITLE     Rod photoreceptor neurite sprouting in retinitis pigmentosa
  JOURNAL   J Neurosci 15 (8), 5429-5438 (1995)
   PUBMED   7643192
REFERENCE   7  (bases 1 to 1998)
  AUTHORS   Winderickx,J., Sanocki,E., Lindsey,D.T., Teller,D.Y., Motulsky,A.G.
            and Deeb,S.S.
  TITLE     Defective colour vision associated with a missense mutation in the
            human green visual pigment gene
  JOURNAL   Nat Genet 1 (4), 251-256 (1992)
   PUBMED   1302020
REFERENCE   8  (bases 1 to 1998)
  AUTHORS   Neitz,J., Neitz,M. and Jacobs,G.H.
  TITLE     Analysis of fusion gene and encoded photopigment of colour-blind
            humans
  JOURNAL   Nature 342 (6250), 679-682 (1989)
   PUBMED   2574415
REFERENCE   9  (bases 1 to 1998)
  AUTHORS   Nathans,J., Thomas,D. and Hogness,D.S.
  TITLE     Molecular genetics of human color vision: the genes encoding blue,
            green, and red pigments
  JOURNAL   Science 232 (4747), 193-202 (1986)
   PUBMED   2937147
REFERENCE   10 (bases 1 to 1998)
  AUTHORS   Applebury,M.L. and Hargrave,P.A.
  TITLE     Molecular biology of the visual pigments
  JOURNAL   Vision Res 26 (12), 1881-1895 (1986)
   PUBMED   3303660
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC244097.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 11, 2009 this sequence version replaced NM_000513.1.
            
            Summary: This gene encodes for a light absorbing visual pigment of
            the opsin gene family. The encoded protein is called green cone
            photopigment or medium-wavelength sensitive opsin. Opsins are
            G-protein coupled receptors with seven transmembrane domains, an
            N-terminal extracellular domain, and a C-terminal cytoplasmic
            domain. The long-wavelength opsin gene and multiple copies of the
            medium-wavelength opsin gene are tandemly arrayed on the X
            chromosome and frequent unequal recombination and gene conversion
            may occur between these sequences. X chromosomes may have fusions
            of the medium- and long-wavelength opsin genes or may have more
            than one copy of these genes. Defects in this gene are the cause of
            deutanopic colorblindness. [provided by RefSeq, Mar 2009].
            
            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 :: BC140938.1, BC143790.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000595290.6/ ENSP00000472316.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-194               AC244097.3         114102-114295
            195-491             AC244097.3         119276-119572
            492-660             AC244097.3         121560-121728
            661-826             AC244097.3         123194-123359
            827-1066            AC244097.3         124914-125153
            1067-1998           AC244097.3         127436-128367
FEATURES             Location/Qualifiers
     source          1..1998
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..1998
                     /gene="OPN1MW"
                     /gene_synonym="CBBM; CBD; COD5; GCP; GOP; OPN1MW1"
                     /note="opsin 1, medium wave sensitive"
                     /db_xref="GeneID:2652"
                     /db_xref="HGNC:HGNC:4206"
                     /db_xref="MIM:300821"
     exon            1..194
                     /gene="OPN1MW"
                     /gene_synonym="CBBM; CBD; COD5; GCP; GOP; OPN1MW1"
                     /inference="alignment:Splign:2.1.0"
     CDS             83..1177
                     /gene="OPN1MW"
                     /gene_synonym="CBBM; CBD; COD5; GCP; GOP; OPN1MW1"
                     /note="green cone photoreceptor pigment; cone dystrophy 5
                     (X-linked); green cone pigment; green-sensitive opsin;
                     photopigment apoprotein; opsin 1 (cone pigments),
                     medium-wave-sensitive; Medium-wave-sensitive opsin 2;
                     Opsin 1 cone pigments medium-wave-sensitive 2"
                     /codon_start=1
                     /product="medium-wave-sensitive opsin 1"
                     /protein_id="NP_000504.1"
                     /db_xref="CCDS:CCDS14743.1"
                     /db_xref="GeneID:2652"
                     /db_xref="HGNC:HGNC:4206"
                     /db_xref="MIM:300821"
                     /translation="MAQQWSLQRLAGRHPQDSYEDSTQSSIFTYTNSNSTRGPFEGPN
                     YHIAPRWVYHLTSVWMIFVVIASVFTNGLVLAATMKFKKLRHPLNWILVNLAVADLAE
                     TVIASTISVVNQVYGYFVLGHPMCVLEGYTVSLCGITGLWSLAIISWERWMVVCKPFG
                     NVRFDAKLAIVGIAFSWIWAAVWTAPPIFGWSRYWPHGLKTSCGPDVFSGSSYPGVQS
                     YMIVLMVTCCITPLSIIVLCYLQVWLAIRAVAKQQKESESTQKAEKEVTRMVVVMVLA
                     FCFCWGPYAFFACFAAANPGYPFHPLMAALPAFFAKSATIYNPVIYVFMNRQFRNCIL
                     QLFGKKVDDGSELSSASKTEVSSVSSVSPA"
     exon            195..491
                     /gene="OPN1MW"
                     /gene_synonym="CBBM; CBD; COD5; GCP; GOP; OPN1MW1"
                     /inference="alignment:Splign:2.1.0"
     exon            492..660
                     /gene="OPN1MW"
                     /gene_synonym="CBBM; CBD; COD5; GCP; GOP; OPN1MW1"
                     /inference="alignment:Splign:2.1.0"
     exon            661..826
                     /gene="OPN1MW"
                     /gene_synonym="CBBM; CBD; COD5; GCP; GOP; OPN1MW1"
                     /inference="alignment:Splign:2.1.0"
     exon            827..1066
                     /gene="OPN1MW"
                     /gene_synonym="CBBM; CBD; COD5; GCP; GOP; OPN1MW1"
                     /inference="alignment:Splign:2.1.0"
     exon            1067..1998
                     /gene="OPN1MW"
                     /gene_synonym="CBBM; CBD; COD5; GCP; GOP; OPN1MW1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1253..1258
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OPN1MW"
                     /gene_synonym="CBBM; CBD; COD5; GCP; GOP; OPN1MW1"
     polyA_site      1283
                     /gene="OPN1MW"
                     /gene_synonym="CBBM; CBD; COD5; GCP; GOP; OPN1MW1"
     polyA_site      1998
                     /gene="OPN1MW"
                     /gene_synonym="CBBM; CBD; COD5; GCP; GOP; OPN1MW1"
ORIGIN      
        1 cccactggcc ggtataaagc accgtgaccc tcaggtgacg caccagggcc ggctgccgtc
       61 ggggacaggg ctttccatag ccatggccca gcagtggagc ctccaaaggc tcgcaggccg
      121 ccatccgcag gacagctatg aggacagcac ccagtccagc atcttcacct acaccaacag
      181 caactccacc agaggcccct tcgaaggccc gaattaccac atcgctccca gatgggtgta
      241 ccacctcacc agtgtctgga tgatctttgt ggtcattgca tccgtcttca caaatgggct
      301 tgtgctggcg gccaccatga agttcaagaa gctgcgccac ccgctgaact ggatcctggt
      361 gaacctggcg gtcgctgacc tggcagagac cgtcatcgcc agcactatca gcgttgtgaa
      421 ccaggtctat ggctacttcg tgctgggcca ccctatgtgt gtcctggagg gctacaccgt
      481 ctccctgtgt gggatcacag gtctctggtc tctggccatc atttcctggg agagatggat
      541 ggtggtctgc aagccctttg gcaatgtgag atttgatgcc aagctggcca tcgtgggcat
      601 tgccttctcc tggatctggg ctgctgtgtg gacagccccg cccatctttg gttggagcag
      661 gtactggccc cacggcctga agacttcatg cggcccagac gtgttcagcg gcagctcgta
      721 ccccggggtg cagtcttaca tgattgtcct catggtcacc tgctgcatca ccccactcag
      781 catcatcgtg ctctgctacc tccaagtgtg gctggccatc cgagcggtgg caaagcagca
      841 gaaagagtct gaatccaccc agaaggcaga gaaggaagtg acgcgcatgg tggtggtgat
      901 ggtcctggca ttctgcttct gctggggacc atacgccttc ttcgcatgct ttgctgctgc
      961 caaccctggc taccccttcc accctttgat ggctgccctg ccggccttct ttgccaaaag
     1021 tgccactatc tacaaccccg ttatctatgt ctttatgaac cggcagtttc gaaactgcat
     1081 cttgcagctt ttcgggaaga aggttgacga tggctctgaa ctctccagcg cctccaaaac
     1141 ggaggtctca tctgtgtcct cggtatcgcc tgcatgaggt ctgcctccta cccatcccgc
     1201 ccaccggggc tttggccacc tctcctttcc ccctccttct ccatccctgt aaaataaatg
     1261 taatttatct ttgccaaaac caacaaagtc acagaggctt tcactgcagt gtgggaccac
     1321 ctgagcctct gcgtgtgcag gcactgggtc tcgagagggt gcaaggggga taaagaggag
     1381 agagcgcttc atagacttta agttttcccg agcctcatgt ctaccgatgg cgtgaaagga
     1441 tcctggcaaa acagaagtgt gaggcaggtg ggcgtctata tccatttcac caggctggtg
     1501 gttacataat cggcaagcaa gagctgtgga ggggcttgct ggatgccctc agcacccagg
     1561 aggagggagg gagctagcaa gctaaggcag gtggccctcc tggcccctta aggtccatct
     1621 gctggaggcc cagagtcctt ggagtacagt ctacacctgg aggggaccca ttcctgccag
     1681 tctgtggcag ggatggcgcg ccacctctgc caggccagga ccccaagccc gatcagcatc
     1741 agcatggtgc aggtgcacag gcgtgagctg atcagtgacg aggggcaggc acacaaggtg
     1801 gagacaaaga ccaagaggac ggttgccagt gagaggcgcg gactcaggaa cttgaacaac
     1861 atctgcgggg gacggctttg gaggtgctcc gctgcctcca gttgggtgac ttgctgtagc
     1921 atctccagct tggatattcg gctcttgaag gtctccgtga tctcctgcag gagacgaaaa
     1981 tgcacgcacc agaagtca
//
