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OPN3 opsin 3 [ Homo sapiens (human) ]

Gene ID: 23596, updated on 11-Apr-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
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Genomic context

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Location:
1q43
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (241593124..241640369, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (241004525..241051843, complement)
105.20220307 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. Opsin 3 mediates UVA-induced keratinocyte supranuclear melanin cap formation. Lan Y, et al. Commun Biol, 2023 Mar 3. PMID 36869204, Free PMC Article
  2. The effects of missense OPN3 mutations in melanocytic lesions on protein structure and light-sensitive function. Zhang W, et al. Exp Dermatol, 2022 Dec. PMID 36017595
  3. OPN3 Regulates Melanogenesis in Human Congenital Melanocytic Nevus Cells through Functional Interaction with BRAF(V600E). Dong X, et al. J Invest Dermatol, 2022 Nov. PMID 35577105
  4. 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
  5. Identification of OPN3 as associated with non-syndromic oligodontia in a Japanese population. Inagaki Y, et al. J Hum Genet, 2021 Aug. PMID 33611338

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. Opsin 3 mediates UVA-induced keratinocyte supranuclear melanin cap formation.
    Title: Opsin 3 mediates UVA-induced keratinocyte supranuclear melanin cap formation.
  4. 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.
  5. 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).
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. Opsin3 Downregulation Induces Apoptosis of Human Epidermal Melanocytes via Mitochondrial Pathway.
    Title: Opsin3 Downregulation Induces Apoptosis of Human Epidermal Melanocytes via Mitochondrial Pathway.
Submit: New GeneRIF Correction See all GeneRIFs (21)

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)

Genotypes

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 cellular respiration IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of glucose import 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_2023_10

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

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