LOCUS       NM_014322               2628 bp    mRNA    linear   PRI 24-SEP-2024
DEFINITION  Homo sapiens opsin 3 (OPN3), transcript variant 1, mRNA.
ACCESSION   NM_014322
VERSION     NM_014322.3
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 2628)
  AUTHORS   Liu,T., Zhang,W., Zeng,W., Wang,Y., Luo,H., Dong,X., Feng,J.,
            Zhang,Y., Jin,S. and Lu,H.
  TITLE     Downregulation of OPN3 Gene Induces Ferroptosis, Apoptosis, and
            Pyroptosis of Human Dermal Fibroblasts In Vitro
  JOURNAL   J Invest Dermatol 144 (10), 2305-2308 (2024)
   PUBMED   38548258
  REMARK    GeneRIF: Downregulation of OPN3 Gene Induces Ferroptosis,
            Apoptosis, and Pyroptosis of Human Dermal Fibroblasts In Vitro.
REFERENCE   2  (bases 1 to 2628)
  AUTHORS   Jin,S., Zhang,W., Zeng,W., Zhang,Y., Feng,J., Wang,Y., Luo,H.,
            Liu,T. and Lu,H.
  TITLE     In vitro differentiation of human amniotic epithelial stem cells
            into keratinocytes regulated by OPN3
  JOURNAL   Exp Dermatol 33 (1), e15007 (2024)
   PUBMED   38284195
  REMARK    GeneRIF: In vitro differentiation of human amniotic epithelial stem
            cells into keratinocytes regulated by OPN3.
REFERENCE   3  (bases 1 to 2628)
  AUTHORS   Ye,T., Lan,Y., Zhang,W., Feng,J., Luo,H., Zeng,W., Wang,Y., Mou,H.,
            Dong,X., Zuo,L. and Lu,H.
  TITLE     Opsin 3 expression in human Langerhans cell histiocytosis and its
            mediation of ELD-1 cellular function
  JOURNAL   Eur J Dermatol 33 (4), 368-382 (2023)
   PUBMED   37823488
  REMARK    GeneRIF: Opsin 3 expression in human Langerhans cell histiocytosis
            and its mediation of ELD-1 cellular function.
REFERENCE   4  (bases 1 to 2628)
  AUTHORS   Lan,Y., Zeng,W., Wang,Y., Dong,X., Shen,X., Gu,Y., Zhang,W. and
            Lu,H.
  TITLE     Opsin 3 mediates UVA-induced keratinocyte supranuclear melanin cap
            formation
  JOURNAL   Commun Biol 6 (1), 238 (2023)
   PUBMED   36869204
  REMARK    GeneRIF: Opsin 3 mediates UVA-induced keratinocyte supranuclear
            melanin cap formation.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2628)
  AUTHORS   Zhang,W., Zeng,W., Li,P., Feng,J., Zhang,Y., Jin,S., Deng,J., Qi,S.
            and Lu,H.
  TITLE     The effects of missense OPN3 mutations in melanocytic lesions on
            protein structure and light-sensitive function
  JOURNAL   Exp Dermatol 31 (12), 1932-1938 (2022)
   PUBMED   36017595
  REMARK    GeneRIF: The effects of missense OPN3 mutations in melanocytic
            lesions on protein structure and light-sensitive function.
REFERENCE   6  (bases 1 to 2628)
  AUTHORS   Alam,N.A., Gorman,P., Jaeger,E.E., Kelsell,D., Leigh,I.M.,
            Ratnavel,R., Murdoch,M.E., Houlston,R.S., Aaltonen,L.A.,
            Roylance,R.R. and Tomlinson,I.P.
  TITLE     Germline deletions of EXO1 do not cause colorectal tumors and
            lesions which are null for EXO1 do not have microsatellite
            instability
  JOURNAL   Cancer Genet Cytogenet 147 (2), 121-127 (2003)
   PUBMED   14623461
  REMARK    GeneRIF: Related persons with heterozygous germline deletions of
            1q42.3, which includes EXO1, RGS7, KMO, CHML, and OPN3, showed no
            phenotypic abnormalities other than multiple leiomyomatosis.
REFERENCE   7  (bases 1 to 2628)
  AUTHORS   Kasper,G., Taudien,S., Staub,E., Mennerich,D., Rieder,M.,
            Hinzmann,B., Dahl,E., Schwidetzky,U., Rosenthal,A. and Rump,A.
  TITLE     Different structural organization of the encephalopsin gene in man
            and mouse
  JOURNAL   Gene 295 (1), 27-32 (2002)
   PUBMED   12242008
  REMARK    GeneRIF: Human OPN3 gene consists of six exons and expresses
            various splice variants.
REFERENCE   8  (bases 1 to 2628)
  AUTHORS   Halford,S., Freedman,M.S., Bellingham,J., Inglis,S.L.,
            Poopalasundaram,S., Soni,B.G., Foster,R.G. and Hunt,D.M.
  TITLE     Characterization of a novel human opsin gene with wide tissue
            expression and identification of embedded and flanking genes on
            chromosome 1q43
  JOURNAL   Genomics 72 (2), 203-208 (2001)
   PUBMED   11401433
REFERENCE   9  (bases 1 to 2628)
  AUTHORS   Halford,S., Bellingham,J., Ocaka,L., Fox,M., Johnson,S.,
            Foster,R.G. and Hunt,D.M.
  TITLE     Assignment of panopsin (OPN3) to human chromosome band 1q43 by in
            situ hybridization and somatic cell hybrids
  JOURNAL   Cytogenet Cell Genet 95 (3-4), 234-235 (2001)
   PUBMED   12063405
  REMARK    GeneRIF: Assignment of panopsin (OPN3) to human chromosome band
            1q43
REFERENCE   10 (bases 1 to 2628)
  AUTHORS   Blackshaw,S. and Snyder,S.H.
  TITLE     Encephalopsin: a novel mammalian extraretinal opsin discretely
            localized in the brain
  JOURNAL   J Neurosci 19 (10), 3681-3690 (1999)
   PUBMED   10234000
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB989739.1, AF140242.1,
            AF303588.1, BM679966.1 and AL133390.7.
            
            On Nov 23, 2018 this sequence version replaced NM_014322.2.
            
            Summary: Opsins are members of the guanine nucleotide-binding
            protein (G protein)-coupled receptor superfamily. In addition to
            the visual opsins, mammals possess several photoreceptive
            non-visual opsins that are expressed in extraocular tissues. This
            gene, opsin 3, is strongly expressed in brain and testis and weakly
            expressed in liver, placenta, heart, lung, skeletal muscle, kidney,
            and pancreas. The gene may also be expressed in the retina. The
            protein has the canonical features of a photoreceptive opsin
            protein. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longest 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 :: AF303588.1, SRR1660809.257301.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000366554.3/ ENSP00000355512.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-60                CB989739.1         78-137
            61-1283             AF140242.1         1-1223
            1284-2546           AF303588.1         1271-2533
            2547-2602           BM679966.1         44-99               c
            2603-2628           AL133390.7         17298-17323         c
FEATURES             Location/Qualifiers
     source          1..2628
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q43"
     gene            1..2628
                     /gene="OPN3"
                     /gene_synonym="ECPN; PPP1R116"
                     /note="opsin 3"
                     /db_xref="GeneID:23596"
                     /db_xref="HGNC:HGNC:14007"
                     /db_xref="MIM:606695"
     exon            1..488
                     /gene="OPN3"
                     /gene_synonym="ECPN; PPP1R116"
                     /inference="alignment:Splign:2.1.0"
     CDS             116..1324
                     /gene="OPN3"
                     /gene_synonym="ECPN; PPP1R116"
                     /note="isoform 1 is encoded by transcript variant 1; opsin
                     3 (encephalopsin, panopsin); protein phosphatase 1,
                     regulatory subunit 116"
                     /codon_start=1
                     /product="opsin-3 isoform 1"
                     /protein_id="NP_055137.2"
                     /db_xref="CCDS:CCDS31072.1"
                     /db_xref="GeneID:23596"
                     /db_xref="HGNC:HGNC:14007"
                     /db_xref="MIM:606695"
                     /translation="MYSGNRSGGHGYWDGGGAAGAEGPAPAGTLSPAPLFSPGTYERL
                     ALLLGSIGLLGVGNNLLVLVLYYKFQRLRTPTHLLLVNISLSDLLVSLFGVTFTFVSC
                     LRNGWVWDTVGCVWDGFSGSLFGIVSIATLTVLAYERYIRVVHARVINFSWAWRAITY
                     IWLYSLAWAGAPLLGWNRYILDVHGLGCTVDWKSKDANDSSFVLFLFLGCLVVPLGVI
                     AHCYGHILYSIRMLRCVEDLQTIQVIKILKYEKKLAKMCFLMIFTFLVCWMPYIVICF
                     LVVNGHGHLVTPTISIVSYLFAKSNTVYNPVIYVFMIRKFRRSLLQLLCLRLLRCQRP
                     AKDLPAAGSEMQIRPIVMSQKDGDRPKKKVTFNSSSIIFIITSDESLSVDDSDKTNGS
                     KVDVIQVRPL"
     exon            489..808
                     /gene="OPN3"
                     /gene_synonym="ECPN; PPP1R116"
                     /inference="alignment:Splign:2.1.0"
     exon            809..1060
                     /gene="OPN3"
                     /gene_synonym="ECPN; PPP1R116"
                     /inference="alignment:Splign:2.1.0"
     exon            1061..2628
                     /gene="OPN3"
                     /gene_synonym="ECPN; PPP1R116"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2120..2125
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OPN3"
                     /gene_synonym="ECPN; PPP1R116"
                     /note="hexamer: AATAAA"
     polyA_site      2150
                     /gene="OPN3"
                     /gene_synonym="ECPN; PPP1R116"
                     /note="major polyA site"
     regulatory      2520..2525
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OPN3"
                     /gene_synonym="ECPN; PPP1R116"
                     /note="hexamer: AATAAA"
     polyA_site      2550
                     /gene="OPN3"
                     /gene_synonym="ECPN; PPP1R116"
                     /note="major polyA site"
     regulatory      2605..2610
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OPN3"
                     /gene_synonym="ECPN; PPP1R116"
                     /note="hexamer: AATAAA"
     polyA_site      2628
                     /gene="OPN3"
                     /gene_synonym="ECPN; PPP1R116"
ORIGIN      
        1 agtgcacaat ggctagagca ggcggcggag ccccaacccc acccagtgcg gagcgcgccg
       61 cgagccccgc cgcaagctga gcgcctccgc ccgccaggcg cgccggcgcc gggccatgta
      121 ctcggggaac cgcagcggcg gccacggcta ctgggacggc ggcggggccg cgggcgctga
      181 ggggccggcg ccggcgggga cactgagccc cgcgcccctc ttcagccccg gcacctacga
      241 gcgcctggcg ctgctgctgg gctccattgg gctgctgggc gtcggcaaca acctgctggt
      301 gctcgtcctc tactacaagt tccagcggct ccgcactccc actcacctcc tcctggtcaa
      361 catcagcctc agcgacctgc tggtgtccct cttcggggtc acctttacct tcgtgtcctg
      421 cctgaggaac ggctgggtgt gggacaccgt gggctgcgtg tgggacgggt ttagcggcag
      481 cctcttcggg attgtttcca ttgccaccct aaccgtgctg gcctatgaac gttacattcg
      541 cgtggtccat gccagagtga tcaatttttc ctgggcctgg agggccatta cctacatctg
      601 gctctactca ctggcgtggg caggagcacc tctcctggga tggaacaggt acatcctgga
      661 cgtacacgga ctaggctgca ctgtggactg gaaatccaag gatgccaacg attcctcctt
      721 tgtgcttttc ttatttcttg gctgcctggt ggtgcccctg ggtgtcatag cccattgcta
      781 tggccatatt ctatattcca ttcgaatgct tcgttgtgtg gaagatcttc agacaattca
      841 agtgatcaag attttaaaat atgaaaagaa actggccaaa atgtgctttt taatgatatt
      901 caccttcctg gtctgttgga tgccttatat cgtgatctgc ttcttggtgg ttaatggtca
      961 tggtcacctg gtcactccaa caatatctat tgtttcgtac ctctttgcta aatcgaacac
     1021 tgtatacaat ccagtgattt atgtcttcat gatcagaaag tttcgaagat cccttttgca
     1081 gcttctgtgc ctccgactgc tgaggtgcca gaggcctgct aaagacctac cagcagctgg
     1141 aagtgaaatg cagatcagac ccattgtgat gtcacagaaa gatggggaca ggccaaagaa
     1201 aaaagtgact ttcaactctt cttccatcat ttttatcatc accagtgatg aatcactgtc
     1261 agttgacgac agcgacaaaa ccaatgggtc caaagttgat gtaatccaag ttcgtccttt
     1321 gtaggaatga agaatggcaa cgaaagatgg ggccttaaat tggatgccac ttttggactt
     1381 tcatcataag aagtgtctgg aatacccgtt ctatgtaata tcaacagaac cttgtggtcc
     1441 agcaggaaat ccgaattgcc catatgctct tgggcctcag gaagaggttg aacaaaaaca
     1501 aattctttta attcaacggg tgctttacat aatgaaaaaa ccacttgtgg cacacgatgg
     1561 gcatctaaca tcatcatctt ctaatgtgtt ggagattttc atttcaaata tattttttaa
     1621 attactctat tttccaaaac acgtaatgca tttttctcga aaatacctta ctgtaaaaat
     1681 aactgtcgcg tacacatgtg tgaagtagct agaacatact gaattttttt tgtactgttg
     1741 gactctattc agtgtcatgt cctatatctg atcaagttat caaggagata attctagaat
     1801 gaaaaagaaa atcctcttgt tggaaacaaa agacgtttta tatgtgcagt atgacaaaga
     1861 ggagtttcag agacaacttt gaatccttgt cagcctggag accagcacca gaggaatcta
     1921 caaggcaaac tcccatatat ttgcttcccc caaattgctg cccctacaga ctcaaagctc
     1981 tttttctttg ttttgttgtt tctctaaaaa tttactgttc tttgtcgatg ctatataagc
     2041 cagggagttc taagacgcca gctctttgag atttgctcat tcccctgtat ttcccacata
     2101 tatattacat atacccgcta ataaatttat gtttgttttt ctcttgtcaa tctgtctttt
     2161 gttatagggg ccccagccaa ggaacctaaa gtgggtagaa ggaaaaatta ttttttcttt
     2221 ccctacaaac tgaacatgga ttattagaac tcaaggtttt cattgacaat atagaaaaga
     2281 aacactgaat cattttattt tattgcccaa tttttatttc ttatatgact ctagtgtttc
     2341 atcttcataa ttaatcatgt ttgaaggatt tctgagtgac tcagcagcct gttaaagaag
     2401 gatgaaccaa agaaaacatt tcactaaatg tgcttttaaa aatcaagtgt attgctggtt
     2461 ctgctgcagt atgtagtcga agaataaatt agtaaattgc ttctgagggt ctgaaattga
     2521 ataaagtaat ggctttgtat ttctataaaa gttgtctccc cttgtttcct ttccattctg
     2581 gcacatgtag acatttaatt tatgaataaa accctttcct gtccttca
//
