OPN1SW
Short-wave-sensitive opsin 1
Also known as: BCP, BOP, CBT, OPSB_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P03999
- Gene
- OPN1SW
- Ensembl
- ENSG00000128617
- Chromosome
- 7
- Canonical length
- 345 aa
- Protein class
- Disease related genes, G-protein coupled receptors, Human disease related genes, Potential drug targets, Predicted membrane proteins
OverviewNCBI Gene
This gene belongs to the G-protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vision. Defects in this gene are the cause of tritan color blindness (tritanopia). Affected individuals lack blue and yellow sensory mechanisms while retaining those for red and green. Defective blue vision is characteristic. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
345 residues, UniProt reviewed canonical sequence.
>P03999|OPN1SW
1 MSEEEFYLFK NISSVGPWDG PQYHIAPVWA FYLQAAFMGT VFLIGFPLNA MVLVATLRYK
61 KLRQPLNYIL VNVSFGGFLL CIFSVFPVFV ASCNGYFVFG RHVCALEGFL GTVAGLVTGW
121 SLAFLAFERY IVICKPFGNF RFSSKHALTV VLATWTIGIG VSIPPFFGWS RFIPEGLQCS
181 CGPDWYTVGT KYRSESYTWF LFIFCFIVPL SLICFSYTQL LRALKAVAAQ QQESATTQKA
241 EREVSRMVVV MVGSFCVCYV PYAAFAMYMV NNRNHGLDLR LVTIPSFFSK SACIYNPIIY
301 CFMNKQFQAC IMKMVCGKAM TDESDTCSSQ KTEVSTVSST QVGPNLocalizationUniProt · AlphaFold · HPA
Whether an antibody against OPN1SW can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 7
- Mean surface accessibility (rSASA)
- 0.26
- Highest tissue expression
- 38 nTPM
Expression across tissuesHPA
Tissue
- retina: 38 nTPM
- testis: 0.2 nTPM
- adipose tissue: 0.1 nTPM
- cerebral cortex: 0.1 nTPM
- endometrium: 0.1 nTPM
- hypothalamus: 0.1 nTPM
Single-cell type
- cone photoreceptor cells: 182 nCPM
- epicardial cells: 21 nCPM
- fibro-adipogenic progenitors: 6.5 nCPM
- hepatic stellate cells: 6.5 nCPM
- cardiomyocytes: 6.2 nCPM
- adipocytes: 4.6 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebellum: 1.1 nTPM
- white matter: 1.1 nTPM
- choroid plexus: 1 nTPM
- cerebral cortex: 0.9 nTPM
- hippocampal formation: 0.8 nTPM
- basal ganglia: 0.6 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about OPN1SW.
Disease | AllUniProt
Conditions OPN1SW is implicated in, by any mechanism.
- Tritan color blindness (CBT) MIM:190900
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.79
- gnomAD pLI
- 0.02
- gnomAD missense Z
- 0.01
- DepMap mean gene effect
- 0.08
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- absorption of visible light
- cellular response to light stimulus
- cellular response to UV-A
- G protein-coupled receptor signaling pathway
- phototransduction
- signal transduction
- visual perception
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads OPN1SW as an antibody target. Whether an autoantibody or antibody against OPN1SW could matter depends on whether native OPN1SW is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
OPN1SW is annotated at the cell surface, where native OPN1SW is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label OPN1SW as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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