Opn1sw opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Opn1swprovided by MGI
Official Full Name: opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan)provided by MGI
Primary source: MGI:MGI:99438
See related: Ensembl:ENSMUSG00000058831 AllianceGenome:MGI:99438
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Bcp
Summary: Predicted to enable G protein-coupled photoreceptor activity. Predicted to be involved in G protein-coupled receptor signaling pathway; cellular response to UV-A; and phototransduction. Predicted to act upstream of or within protein-chromophore linkage and signal transduction. Located in photoreceptor outer segment. Is expressed in several structures, including brain; eye; genitourinary system; gut; and liver and biliary system. Human ortholog(s) of this gene implicated in blue color blindness. Orthologous to human OPN1SW (opsin 1, short wave sensitive). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in bladder adult (RPKM 1.4), limb E14.5 (RPKM 0.3) and 8 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 A3.3; 6 12.36 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (29376670..29380512, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (29376671..29380513, complement)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

True S-cones are concentrated in the ventral mouse retina and wired for color detection in the upper visual field.
Title: True S-cones are concentrated in the ventral mouse retina and wired for color detection in the upper visual field.
These findings indicate that the aggregation of S-opsin induced by exposure to blue -emitting diode light causes endoplasmic reticulum stress, and ATF4 activation in particular.
Title: The involvement of ATF4 and S-opsin in retinal photoreceptor cell damage induced by blue LED light.
quantitative FRET analysis in acutely isolated cone OS revealed that the cone degeneration-causing V268I mutation in peripherin-2 selectively reduced binding to M-opsin without affecting the peripherin-2 interaction to S-opsin or rhodopsin
Title: Peripherin-2 differentially interacts with cone opsins in outer segments of cone photoreceptors.
Deletion of one allele of S-opsin from Lrat(-) (/-) mice (model of Leber congenital amaurosis) is sufficient to prevent rapid cone degeneration for at least 1 month. Deletion of both alleles of S-opsin prevents cone degeneration for at least 12 months.
Title: Genetic deletion of S-opsin prevents rapid cone degeneration in a mouse model of Leber congenital amaurosis.
TR beta 2 and S opsin are expressed in cone photoreceptors only. Both are transcribed by E13, and their levels increase with cone genesis.
Title: Transient expression of thyroid hormone nuclear receptor TRbeta2 sets S opsin patterning during cone photoreceptor genesis.
Opn1sw is a target gene for RORbeta.
Title: Activation of the blue opsin gene in cone photoreceptor development by retinoid-related orphan receptor beta.
Thus, the three types of mouse opsin appear distinctive in the degree to which their bleached, unregenerated opsins generate "dark light."
Title: Physiological features of the S- and M-cone photoreceptors of wild-type mice from single-cell recordings.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW541262 (e-PCR)
- UniSTS:159489

Opn1sw (e-PCR), detects polymorphism
- UniSTS:141171

NoName (e-PCR)
- UniSTS:235394

Opn1sw (e-PCR), detects polymorphism
- UniSTS:536457

AW551857 (e-PCR)
- UniSTS:179352

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables G protein-coupled photoreceptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables G protein-coupled receptor activity	IEA Inferred from Electronic Annotation more info
enables photoreceptor activity	IEA Inferred from Electronic Annotation more info

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	ISO Inferred from Sequence Orthology more info
involved_in cellular response to light stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in phototransduction	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within response to stimulus	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within signal transduction	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within visual perception	IEA Inferred from Electronic Annotation more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell body	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cone photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in intercellular bridge	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in photoreceptor outer segment	IBA Inferred from Biological aspect of Ancestor more info
located_in photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor outer segment	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in terminal bouton	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: short-wave-sensitive opsin 1

Names: BOP; S opsin; SWS opsin; UV cone pigment; blue cone opsin; blue cone photoreceptor pigment; blue cone pigment; blue opsin; blue visual pigment protein; blue-sensitive opsin; blue/UV opsin; short wavelength sensitive opsin; short wavelength-sensitive cone opsin

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.