OPN3 opsin 3 [Homo sapiens (human)] - Gene

Summary

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

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Opsin 3 mediates UVA-induced keratinocyte supranuclear melanin cap formation.
Title: Opsin 3 mediates UVA-induced keratinocyte supranuclear melanin cap formation.
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.
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).
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-76600 (e-PCR)
- UniSTS:3131

SHGC-76599 (e-PCR)
- UniSTS:69949

SHGC-76603 (e-PCR)
- UniSTS:53590

D1S3591 (e-PCR)
- UniSTS:64342

SHGC-33718 (e-PCR)
- UniSTS:54364

SHGC-76595 (e-PCR)
- UniSTS:11101

AL033675 (e-PCR)
- UniSTS:93533

99-1638 (e-PCR)
- UniSTS:240746

RH99149 (e-PCR)
- UniSTS:90734

SHGC-76597 (e-PCR)
- UniSTS:68281

SHGC-12642 (e-PCR)
- UniSTS:34242

SHGC-106687 (e-PCR)
- UniSTS:169972

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)

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
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
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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

241593124..241640369 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

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

NM_001030011.1: Suppressed sequence

Description

NM_001030011.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_001030012.1: Suppressed sequence

Description

NM_001030012.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.