OPN1SW
Opsin 1, Short Wave Sensitive
Gene Information Card
| Symbol | OPN1SW |
|---|---|
| Full Name | Opsin 1, Short Wave Sensitive |
| Gene Type | Protein coding |
| Chromosomal Location | 7q32.1 |
| NCBI Gene ID | 611 ncbi.nlm.nih.gov/gene/611 |
| Ensembl ID | ENSG00000128617 |
| UniProt ID | P03999 |
| OMIM ID | 190900 |
| HGNC ID | 8140 |
| Aliases | BOP, CBT, CBBM, BCP, BLUE CONE OPSIN |
Description
OPN1SW encodes the blue cone opsin, a G protein-coupled receptor that is sensitive to short-wavelength (blue) light. It is expressed exclusively in cone photoreceptor cells of the retina and is essential for color vision. Mutations in OPN1SW cause tritan color vision deficiency and are associated with progressive cone dystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Tritanopia (blue-yellow color blindness) | Loss-of-function mutations in OPN1SW abolish blue cone phototransduction, leading to inability to discriminate blue from yellow hues. | ClinVar, OMIM |
| Progressive cone dystrophy | Dominant-negative or missense mutations cause gradual degeneration of cone photoreceptors, impairing central vision and color perception. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 0.0 | Not detected (nTPM not applicable; RNA-seq from GTEx shows retina-specific expression) |
| Other tissues | 0.0 | Not expressed |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 0.0 | No expression |
| Y79 (retinoblastoma) | 0.0 | No expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.517G>A (p.Gly173Arg) | Missense | Rare | Dominant-negative; causes progressive cone dystrophy |
| c.532C>T (p.Arg178Trp) | Missense | Rare | Loss of function; associated with tritanopia |
| c.1A>G (p.Met1?) | Start loss | Very rare | Complete loss of function; tritanopia |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations that abolish opsin expression or chromophore binding lead to tritanopia.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations such as p.Gly173Arg disrupt protein folding and cause cone degeneration in a dominant manner.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • photoreceptor activity |
| • visual perception | • response to light stimulus |
| • phototransduction |
Pathways
• Phototransduction cascade (Reactome: R-HSA-2188538)
• Visual signal transduction (KEGG: hsa04744)
Protein Summary
The OPN1SW protein (blue cone opsin) is a 348-amino acid transmembrane receptor that binds 11-cis-retinal as a chromophore. Upon absorption of blue light (peak ~420 nm), it activates transducin and initiates the phototransduction cascade. It is localized to the outer segments of S-cones in the retina.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OPN1SW Knockout HEK293 Cell Line | EDJ-KQ4131 | Human | 611 | Details Get a Quote |
| OPN1SW Knockout HeLa Cell Line | EDJ-KQ52714 | Human | 611 | Details Get a Quote |
| OPN1SW Knockout A-549 Cell Line | EDJ-KQ61185 | Human | 611 | Details Get a Quote |
| OPN1SW Knockout HCT 116 Cell Line | EDJ-KQ69676 | Human | 611 | Details Get a Quote |
