LOCUS       NM_020061               1242 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens opsin 1, long wave sensitive (OPN1LW), mRNA.
ACCESSION   NM_020061
VERSION     NM_020061.6
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 1242)
  AUTHORS   Wang,Y., Sun,W., Xiao,X., Jiang,Y., Ouyang,J., Wang,J., Yi,Z.,
            Li,S., Jia,X., Wang,P., Hejtmancik,J.F. and Zhang,Q.
  TITLE     Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With
            or Without Protanopia: A Potential Window Into Myopic Mechanism
  JOURNAL   Invest Ophthalmol Vis Sci 64 (4), 29 (2023)
   PUBMED   37097228
  REMARK    GeneRIF: Unique Haplotypes in OPN1LW as a Common Cause of High
            Myopia With or Without Protanopia: A Potential Window Into Myopic
            Mechanism.
REFERENCE   2  (bases 1 to 1242)
  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   3  (bases 1 to 1242)
  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   4  (bases 1 to 1242)
  AUTHORS   Neitz,M., Wagner-Schuman,M., Rowlan,J.S., Kuchenbecker,J.A. and
            Neitz,J.
  TITLE     Insight from OPN1LW Gene Haplotypes into the Cause and Prevention
            of Myopia
  JOURNAL   Genes (Basel) 13 (6), 942 (2022)
   PUBMED   35741704
  REMARK    GeneRIF: Insight from OPN1LW Gene Haplotypes into the Cause and
            Prevention of Myopia.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1242)
  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   6  (bases 1 to 1242)
  AUTHORS   Ueyama,H., Kuwayama,S., Imai,H., Tanabe,S., Oda,S., Nishida,Y.,
            Wada,A., Shichida,Y. and Yamade,S.
  TITLE     Novel missense mutations in red/green opsin genes in congenital
            color-vision deficiencies
  JOURNAL   Biochem Biophys Res Commun 294 (2), 205-209 (2002)
   PUBMED   12051694
  REMARK    GeneRIF: In a Japanese male with congenital protan red/green color
            blindness the mutation Gly338Glu (GGG-->GAG) occurred in the single
            red gene resulting in no absorbance and loss of function
REFERENCE   7  (bases 1 to 1242)
  AUTHORS   Winderickx,J., Lindsey,D.T., Sanocki,E., Teller,D.Y., Motulsky,A.G.
            and Deeb,S.S.
  TITLE     Polymorphism in red photopigment underlies variation in colour
            matching
  JOURNAL   Nature 356 (6368), 431-433 (1992)
   PUBMED   1557123
REFERENCE   8  (bases 1 to 1242)
  AUTHORS   Dietrich,A., Korn,B. and Poustka,A.
  TITLE     Completion of the physical map of Xq28: the location of the gene
            for L1CAM on the human X chromosome
  JOURNAL   Mamm Genome 3 (3), 168-172 (1992)
   PUBMED   1617223
REFERENCE   9  (bases 1 to 1242)
  AUTHORS   Arveiler,B., Vincent,A. and Mandel,J.L.
  TITLE     Toward a physical map of the Xq28 region in man: linking color
            vision, G6PD, and coagulation factor VIII genes to an X-Y homology
            region
  JOURNAL   Genomics 4 (4), 460-471 (1989)
   PUBMED   2501212
REFERENCE   10 (bases 1 to 1242)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DN693335.1, BQ639996.1,
            EL949562.1, BM688032.1 and BU726889.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_020061.5.
            
            Summary: This gene encodes for a light absorbing visual pigment of
            the opsin gene family. The encoded protein is called red cone
            photopigment or long-wavelength sensitive opsin. Opsins are
            G-protein coupled receptors with seven transmembrane domains, an
            N-terminal extracellular domain, and a C-terminal cytoplasmic
            domain. This gene and 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 partial, protanopic colorblindness. [provided by
            RefSeq, Jul 2008].
            
            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 :: CR749814.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369951.9/ ENSP00000358967.4
            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
            1-493               DN693335.1         20-512
            494-561             BQ639996.1         456-523
            562-1006            EL949562.1         90-534
            1007-1241           BM688032.1         254-488
            1242-1242           BU726889.1         17-17               c
FEATURES             Location/Qualifiers
     source          1..1242
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..1242
                     /gene="OPN1LW"
                     /gene_synonym="CBBM; CBP; COD5; RCP; ROP"
                     /note="opsin 1, long wave sensitive"
                     /db_xref="GeneID:5956"
                     /db_xref="HGNC:HGNC:9936"
                     /db_xref="MIM:300822"
     exon            1..153
                     /gene="OPN1LW"
                     /gene_synonym="CBBM; CBP; COD5; RCP; ROP"
                     /inference="alignment:Splign:2.1.0"
     CDS             42..1136
                     /gene="OPN1LW"
                     /gene_synonym="CBBM; CBP; COD5; RCP; ROP"
                     /note="cone dystrophy 5 (X-linked); red-sensitive opsin;
                     red cone photoreceptor pigment; red cone opsin; opsin 1
                     (cone pigments), long-wave-sensitive"
                     /codon_start=1
                     /product="long-wave-sensitive opsin 1"
                     /protein_id="NP_064445.2"
                     /db_xref="CCDS:CCDS14742.1"
                     /db_xref="GeneID:5956"
                     /db_xref="HGNC:HGNC:9936"
                     /db_xref="MIM:300822"
                     /translation="MAQQWSLQRLAGRHPQDSYEDSTQSSIFTYTNSNSTRGPFEGPN
                     YHIAPRWVYHLTSVWMIFVVTASVFTNGLVLAATMKFKKLRHPLNWILVNLAVADLAE
                     TVIASTISIVNQVSGYFVLGHPMCVLEGYTVSLCGITGLWSLAIISWERWMVVCKPFG
                     NVRFDAKLAIVGIAFSWIWAAVWTAPPIFGWSRYWPHGLKTSCGPDVFSGSSYPGVQS
                     YMIVLMVTCCIIPLAIIMLCYLQVWLAIRAVAKQQKESESTQKAEKEVTRMVVVMIFA
                     YCVCWGPYTFFACFAAANPGYAFHPLMAALPAYFAKSATIYNPVIYVFMNRQFRNCIL
                     QLFGKKVDDGSELSSASKTEVSSVSSVSPA"
     exon            154..450
                     /gene="OPN1LW"
                     /gene_synonym="CBBM; CBP; COD5; RCP; ROP"
                     /inference="alignment:Splign:2.1.0"
     exon            451..619
                     /gene="OPN1LW"
                     /gene_synonym="CBBM; CBP; COD5; RCP; ROP"
                     /inference="alignment:Splign:2.1.0"
     exon            620..785
                     /gene="OPN1LW"
                     /gene_synonym="CBBM; CBP; COD5; RCP; ROP"
                     /inference="alignment:Splign:2.1.0"
     exon            786..1025
                     /gene="OPN1LW"
                     /gene_synonym="CBBM; CBP; COD5; RCP; ROP"
                     /inference="alignment:Splign:2.1.0"
     exon            1026..1242
                     /gene="OPN1LW"
                     /gene_synonym="CBBM; CBP; COD5; RCP; ROP"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gccagggccg gctgccgtcg gggacagggc tttccatagc catggcccag cagtggagcc
       61 tccaaaggct cgcaggccgc catccgcagg acagctatga ggacagcacc cagtccagca
      121 tcttcaccta caccaacagc aactccacca gaggcccctt cgaaggcccg aattaccaca
      181 tcgctcccag atgggtgtac cacctcacca gtgtctggat gatctttgtg gtcactgcat
      241 ccgtcttcac aaatgggctt gtgctggcgg ccaccatgaa gttcaagaag ctgcgccacc
      301 cgctgaactg gatcctggtg aacctggcgg tcgctgacct agcagagacc gtcatcgcca
      361 gcactatcag cattgtgaac caggtctctg gctacttcgt gctgggccac cctatgtgtg
      421 tcctggaggg ctacaccgtc tccctgtgtg ggatcacagg tctctggtct ctggccatca
      481 tttcctggga gagatggatg gtggtctgca agccctttgg caatgtgaga tttgatgcca
      541 agctggccat cgtgggcatt gccttctcct ggatctgggc tgctgtgtgg acagccccgc
      601 ccatctttgg ttggagcagg tactggcccc acggcctgaa gacttcatgc ggcccagacg
      661 tgttcagcgg cagctcgtac cccggggtgc agtcttacat gattgtcctc atggtcacct
      721 gctgcatcat cccactcgct atcatcatgc tctgctacct ccaagtgtgg ctggccatcc
      781 gagcggtggc aaagcagcag aaagagtctg aatccaccca gaaggcagag aaggaagtga
      841 cgcgcatggt ggtggtgatg atctttgcgt actgcgtctg ctggggaccc tacaccttct
      901 tcgcatgctt tgctgctgcc aaccctggtt acgccttcca ccctttgatg gctgccctgc
      961 cggcctactt tgccaaaagt gccactatct acaaccccgt tatctatgtc tttatgaacc
     1021 ggcagtttcg aaactgcatc ttgcagcttt tcgggaagaa ggttgacgat ggctctgaac
     1081 tctccagcgc ctccaaaacg gaggtctcat ctgtgtcctc ggtatcgcct gcatgaggtc
     1141 tgcctcctac ccatcccgcc caccggggct ttggccacct ctcctttccc cctccttctc
     1201 catccctgta aaataaatgt aatttatctt tgccaaaacc aa
//
