OPN1LW
Long-wave-sensitive opsin 1, red cone pigment gene
Gene Information Card
| Symbol | OPN1LW |
|---|---|
| Full Name | opsin 1, long wave sensitive |
| Gene Type | protein-coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 5956 ncbi.nlm.nih.gov/gene/5956 |
| Ensembl ID | ENSG00000102076 |
| UniProt ID | P04000 |
| OMIM ID | 300822 |
| HGNC ID | 8141 |
| Aliases | CBBM, RCP, L-opsin, red cone pigment |
Description
OPN1LW (opsin 1, long wave sensitive) encodes a photopigment in cone photoreceptor cells sensitive to long wavelengths (red light). It is located on the X chromosome and is essential for normal color vision. Mutations in OPN1LW cause protanopia (red-green color blindness) and can contribute to X-linked cone dystrophy. The gene is part of a tandem array on Xq28 with OPN1MW (medium-wave opsin).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Protanopia | Loss of function of red cone pigment due to missense or deletion variants in OPN1LW, leading to inability to discriminate red hues. | ClinVar, OMIM #303900 |
| X-linked cone dystrophy | Mutations in OPN1LW disrupt cone photoreceptor function, causing progressive vision loss and photophobia. | OMIM #304020 |
| Blue cone monochromacy | Deletion or rearrangement of the OPN1LW/OPN1MW gene array abolishes L- and M-cone function, leaving only S-cones. | OMIM #303700 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | — | High |
| Eye | — | High |
| Testis | — | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Retinal cone cells | — | High |
| ARPE-19 (retinal pigment epithelium) | — | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.607C>T (p.Arg203Trp) | Missense | Rare in general population | Disrupts chromophore binding; causes protanopia |
| c.886A>G (p.Asn296Asp) | Missense | Rare | Alters spectral tuning; associated with color vision deficiency |
| Complete deletion of OPN1LW | Structural variant | Rare | Loss of red cone function; causes protanopia |
Mutation functional classification
Loss of Function (LOF)
Missense or nonsense variants that abolish opsin expression or chromophore binding lead to protanopia.
Gain of Function (GOF)
Not reported for OPN1LW.
Dominant Negative (DN)
Not reported; OPN1LW mutations are typically recessive or X-linked.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • photoreceptor activity |
| • visual perception | • response to light stimulus |
| • integral component of membrane |
Pathways
• Phototransduction cascade (Reactome R-HSA-2188538)
• Visual signal transduction (KEGG hsa04744)
Protein Summary
OPN1LW encodes a 364-amino acid G protein-coupled receptor (opsin) that binds 11-cis-retinal as a chromophore. Upon photon absorption, it activates transducin and initiates the phototransduction cascade. The protein is specifically expressed in L-cone photoreceptors of the retina and is responsible for red color perception.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OPN1LW Knockout HEK293 Cell Line | EDJ-KQ50565 | Human | 5956 | Details Get a Quote |
| OPN1LW Knockout HeLa Cell Line | EDJ-KQ54303 | Human | 5956 | Details Get a Quote |
| OPN1LW Knockout A-549 Cell Line | EDJ-KQ62797 | Human | 5956 | Details Get a Quote |
| OPN1LW Knockout HCT 116 Cell Line | EDJ-KQ71263 | Human | 5956 | Details Get a Quote |
