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    OPN3 opsin 3 [ Homo sapiens (human) ]

    Gene ID: 23596, updated on 10-Dec-2024

    Summary

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    Official Symbol
    OPN3provided by HGNC
    Official Full Name
    opsin 3provided by HGNC
    Primary source
    HGNC:HGNC:14007
    See related
    Ensembl:ENSG00000054277 MIM:606695; AllianceGenome:HGNC:14007
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ECPN; PPP1R116
    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]
    Expression
    Broad expression in placenta (RPKM 19.5), lung (RPKM 11.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See OPN3 in Genome Data Viewer
    Location:
    1q43
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (241593124..241640369, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (241004525..241051843, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (241756426..241803671, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904601 Neighboring gene NANOG hESC enhancer GRCh37_chr1:241581573-241582074 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:241602586-241603173 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2007 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:241682833-241683429 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2828 Neighboring gene fumarate hydratase Neighboring gene kynurenine 3-monooxygenase Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:241802798-241803368 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:241803369-241803938 Neighboring gene uncharacterized LOC124904603 Neighboring gene CHM like Rab escort protein Neighboring gene WD repeat domain 64 Neighboring gene CRISPRi-validated cis-regulatory element chr1.12743 Neighboring gene uncharacterized LOC105373231

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Expression of OPN3 in acral lentiginous melanoma and its associated with clinicohistopathologic features and prognosis. Zeng W, et al. Immun Inflamm Dis, 2021 Sep. PMID 33955704, Free PMC Article
    2. Downregulation of OPN3 Gene Induces Ferroptosis, Apoptosis, and Pyroptosis of Human Dermal Fibroblasts In Vitro. Liu T, et al. J Invest Dermatol, 2024 Oct. PMID 38548258
    3. Opsin3 sensitizes hepatocellular carcinoma cells to 5-fluorouracil treatment by regulating the apoptotic pathway. Jiao J, et al. Cancer Lett, 2012 Jul 1. PMID 22313545
    4. Expression of OPN3 in lung adenocarcinoma promotes epithelial-mesenchymal transition and tumor metastasis. Xu C, et al. Thorac Cancer, 2020 Feb. PMID 31802643, Free PMC Article
    5. Activation of an Endogenous Opsin 3 Light Receptor Mediates Photo-Relaxation of Pre-Contracting Late Gestation Human Uterine Smooth Muscle Ex Vivo. Yim PD, et al. Reprod Sci, 2020 Sep. PMID 32166706, Free PMC Article

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Downregulation of OPN3 Gene Induces Ferroptosis, Apoptosis, and Pyroptosis of Human Dermal Fibroblasts In Vitro.
      Title: Downregulation of OPN3 Gene Induces Ferroptosis, Apoptosis, and Pyroptosis of Human Dermal Fibroblasts In Vitro.
    2. In vitro differentiation of human amniotic epithelial stem cells into keratinocytes regulated by OPN3.
      Title: In vitro differentiation of human amniotic epithelial stem cells into keratinocytes regulated by OPN3.
    3. Opsin 3 expression in human Langerhans cell histiocytosis and its mediation of ELD-1 cellular function.
      Title: Opsin 3 expression in human Langerhans cell histiocytosis and its mediation of ELD-1 cellular function.
    4. Opsin 3 mediates UVA-induced keratinocyte supranuclear melanin cap formation.
      Title: Opsin 3 mediates UVA-induced keratinocyte supranuclear melanin cap formation.
    5. The effects of missense OPN3 mutations in melanocytic lesions on protein structure and light-sensitive function.
      Title: The effects of missense OPN3 mutations in melanocytic lesions on protein structure and light-sensitive function.
    6. OPN3 Regulates Melanogenesis in Human Congenital Melanocytic Nevus Cells through Functional Interaction with BRAF(V600E).
      Title: OPN3 Regulates Melanogenesis in Human Congenital Melanocytic Nevus Cells through Functional Interaction with BRAF(V600E).
    7. Identification of OPN3 as associated with non-syndromic oligodontia in a Japanese population.
      Title: Identification of OPN3 as associated with non-syndromic oligodontia in a Japanese population.
    8. TGFbeta2 Upregulates Tyrosinase Activity through Opsin-3 in Human Skin Melanocytes In Vitro.
      Title: TGFβ2 Upregulates Tyrosinase Activity through Opsin-3 in Human Skin Melanocytes In Vitro.
    9. Expression of OPN3 in acral lentiginous melanoma and its associated with clinicohistopathologic features and prognosis.
      Title: Expression of OPN3 in acral lentiginous melanoma and its associated with clinicohistopathologic features and prognosis.
    10. Expression of OPN3 in lung adenocarcinoma promotes epithelial-mesenchymal transition and tumor metastasis.
      Title: Expression of OPN3 in lung adenocarcinoma promotes epithelial-mesenchymal transition and tumor metastasis.
    Submit: New GeneRIF Correction See all GeneRIFs (22)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 11-cis retinal binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables G protein-coupled photoreceptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables G protein-coupled photoreceptor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables G protein-coupled receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables all-trans retinal binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables photoreceptor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cellular response to UV-A IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to light stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in detection of light stimulus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in detection of visible light IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in keratinocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of melanin biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in phototransduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phototransduction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of D-glucose import IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cellular respiration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of melanin biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of circadian rhythm NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in response to blue light IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to blue light IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in photoreceptor outer segment IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    opsin-3
    Names
    encephalopsin
    opsin 3 (encephalopsin, panopsin)
    protein phosphatase 1, regulatory subunit 116

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001381855.1 → NP_001368784.1  opsin-3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL133390
      Consensus CDS
      CCDS91183.1
      UniProtKB/TrEMBL
      A0A1B0GVA4, Q6GMT1
      Conserved Domains (2) summary
      cd14964
      Location:77 → 99
      7tm_GPCRs; TM helix 2 [structural motif]
      cl28897
      Location:58 → 128
      7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily

    2. NM_001381856.1 → NP_001368785.1  opsin-3 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL133390
      Consensus CDS
      CCDS91184.1
      UniProtKB/TrEMBL
      A0A1B0GVX9, Q6GMT1
      Conserved Domains (2) summary
      cd14964
      Location:77 → 99
      7tm_GPCRs; TM helix 2 [structural motif]
      cl28897
      Location:58 → 124
      7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily

    3. NM_014322.3 → NP_055137.2  opsin-3 isoform 1

      See identical proteins and their annotated locations for NP_055137.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AF140242, AF303588, AL133390, BM679966, CB989739
      Consensus CDS
      CCDS31072.1
      UniProtKB/Swiss-Prot
      Q8IX08, Q9H1Y3, Q9Y344
      Related
      ENSP00000355512.2, ENST00000366554.3
      Conserved Domains (1) summary
      cd15078
      Location:58 → 316
      7tmA_Encephalopsin; encephalopsins (opsin-3), member of the class A family of seven-transmembrane G protein-coupled receptors

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      241593124..241640369 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      241004525..241051843 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001030011.1: Suppressed sequence

      Description
      NM_001030011.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    2. NM_001030012.1: Suppressed sequence

      Description
      NM_001030012.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H1Y3.1 GenPept UniProtKB/Swiss-Prot:Q9H1Y3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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