LOCUS       NM_001385125            1106 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens opsin 1, short wave sensitive (OPN1SW), mRNA.
ACCESSION   NM_001385125
VERSION     NM_001385125.1
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 1106)
  AUTHORS   Lan,Y., Wang,Y. and Lu,H.
  TITLE     Opsin 3 is a key regulator of ultraviolet A-induced photoageing in
            human dermal fibroblast cells
  JOURNAL   Br J Dermatol 182 (5), 1228-1244 (2020)
   PUBMED   31380578
REFERENCE   2  (bases 1 to 1106)
  AUTHORS   Neitz,M., Krekling,E.D., Hagen,L.A., Pedersen,H.R., Rowlan,J.,
            Barborek,R., Neitz,J., Crain,A. and Baraas,R.C.
  TITLE     Tritan color vision deficiency may be associated with an OPN1SW
            splicing defect and haploinsufficiency
  JOURNAL   J Opt Soc Am A Opt Image Sci Vis 37 (4), A26-A34 (2020)
   PUBMED   32400513
  REMARK    GeneRIF: Tritan color vision deficiency may be associated with an
            OPN1SW splicing defect and haploinsufficiency.
REFERENCE   3  (bases 1 to 1106)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1106)
  AUTHORS   Wang,Y., Lan,Y. and Lu,H.
  TITLE     Opsin3 Downregulation Induces Apoptosis of Human Epidermal
            Melanocytes via Mitochondrial Pathway
  JOURNAL   Photochem Photobiol 96 (1), 83-93 (2020)
   PUBMED   31730232
REFERENCE   5  (bases 1 to 1106)
  AUTHORS   Fitzgibbon,J., Appukuttan,B., Gayther,S., Wells,D., Delhanty,J. and
            Hunt,D.M.
  TITLE     Localisation of the human blue cone pigment gene to chromosome band
            7q31.3-32
  JOURNAL   Hum Genet 93 (1), 79-80 (1994)
   PUBMED   8270261
REFERENCE   6  (bases 1 to 1106)
  AUTHORS   Weitz,C.J., Went,L.N. and Nathans,J.
  TITLE     Human tritanopia associated with a third amino acid substitution in
            the blue-sensitive visual pigment
  JOURNAL   Am J Hum Genet 51 (2), 444-446 (1992)
   PUBMED   1386496
REFERENCE   7  (bases 1 to 1106)
  AUTHORS   Weitz,C.J., Miyake,Y., Shinzato,K., Montag,E., Zrenner,E.,
            Went,L.N. and Nathans,J.
  TITLE     Human tritanopia associated with two amino acid substitutions in
            the blue-sensitive opsin
  JOURNAL   Am J Hum Genet 50 (3), 498-507 (1992)
   PUBMED   1531728
REFERENCE   8  (bases 1 to 1106)
  AUTHORS   Oprian,D.D., Asenjo,A.B., Lee,N. and Pelletier,S.L.
  TITLE     Design, chemical synthesis, and expression of genes for the three
            human color vision pigments
  JOURNAL   Biochemistry 30 (48), 11367-11372 (1991)
   PUBMED   1742276
REFERENCE   9  (bases 1 to 1106)
  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 1106)
  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 AC024952.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene belongs to the G-protein coupled receptor 1
            family, opsin subfamily. It encodes the blue cone pigment gene
            which is one of three types of cone photoreceptors responsible for
            normal color vision. Defects in this gene are the cause of tritan
            color blindness (tritanopia). Affected individuals lack blue and
            yellow sensory mechanisms while retaining those for red and green.
            Defective blue vision is characteristic. [provided by RefSeq, Jul
            2008].
            
            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 :: DQ822478.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000249389.3/
                                                ENSP00000249389.3
            RefSeq Select criteria           :: based on single protein-coding
                                                transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-356               AC024952.4         59896-60251         c
            357-525             AC024952.4         59443-59611         c
            526-691             AC024952.4         58955-59120         c
            692-931             AC024952.4         58106-58345         c
            932-1106            AC024952.4         56942-57116         c
FEATURES             Location/Qualifiers
     source          1..1106
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q32.1"
     gene            1..1106
                     /gene="OPN1SW"
                     /gene_synonym="BCP; BOP; CBT"
                     /note="opsin 1, short wave sensitive"
                     /db_xref="GeneID:611"
                     /db_xref="HGNC:HGNC:1012"
                     /db_xref="MIM:613522"
     exon            1..356
                     /gene="OPN1SW"
                     /gene_synonym="BCP; BOP; CBT"
                     /inference="alignment:Splign:2.1.0"
     exon            357..525
                     /gene="OPN1SW"
                     /gene_synonym="BCP; BOP; CBT"
                     /inference="alignment:Splign:2.1.0"
     exon            526..691
                     /gene="OPN1SW"
                     /gene_synonym="BCP; BOP; CBT"
                     /inference="alignment:Splign:2.1.0"
     exon            692..931
                     /gene="OPN1SW"
                     /gene_synonym="BCP; BOP; CBT"
                     /inference="alignment:Splign:2.1.0"
     exon            932..1106
                     /gene="OPN1SW"
                     /gene_synonym="BCP; BOP; CBT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1085..1090
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OPN1SW"
                     /gene_synonym="BCP; BOP; CBT"
                     /note="hexamer: ATTAAA"
     polyA_site      1106
                     /gene="OPN1SW"
                     /gene_synonym="BCP; BOP; CBT"
                     /note="major polyA site"
ORIGIN      
        1 atccatgaga aaaatgtcgg aggaagagtt ttatctgttc aaaaatatct cttcagtggg
       61 gccgtgggat gggcctcagt accacattgc ccctgtctgg gccttctacc tccaggcagc
      121 tttcatgggc actgtcttcc ttatagggtt cccactcaat gccatggtgc tggtggccac
      181 actgcgctac aaaaagttgc ggcagcccct caactacatt ctggtcaacg tgtccttcgg
      241 aggcttcctc ctctgcatct tctctgtctt ccctgtcttc gtcgccagct gtaacggata
      301 cttcgtcttc ggtcgccatg tttgtgcttt ggagggcttc ctgggcactg tagcaggtct
      361 ggttacagga tggtcactgg ccttcctggc ctttgagcgc tacattgtca tctgtaagcc
      421 cttcggcaac ttccgcttca gctccaagca tgcactgacg gtggtcctgg ctacctggac
      481 cattggtatt ggcgtctcca tcccaccctt ctttggctgg agccggttca tccctgaggg
      541 cctgcagtgt tcctgtggcc ctgactggta caccgtgggc accaaatacc gcagcgagtc
      601 ctatacgtgg ttcctcttca tcttctgctt cattgtgcct ctctccctca tctgcttctc
      661 ctacactcag ctgctgaggg ccctgaaagc tgttgcagct cagcagcagg agtcagctac
      721 gacccagaag gctgaacggg aggtgagccg catggtggtt gtgatggtag gatccttctg
      781 tgtctgctac gtgccctacg cggccttcgc catgtacatg gtcaacaacc gtaaccatgg
      841 gctggactta cggcttgtca ccattccttc attcttctcc aagagtgctt gcatctacaa
      901 tcccatcatc tactgcttca tgaataagca gttccaagct tgcatcatga agatggtgtg
      961 tgggaaggcc atgacagatg aatccgacac atgcagctcc cagaaaacag aagtttctac
     1021 tgtctcgtct acccaagttg gccccaactg aggacccaat attggcctgt ttgcaacagc
     1081 tagaattaaa ttttactttt aagtaa
//
